pheval 0.1.0__py3-none-any.whl → 0.2.0__py3-none-any.whl

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Files changed (42) hide show
  1. pheval/__init__.py +0 -5
  2. pheval/analyse/__init__.py +0 -0
  3. pheval/analyse/analysis.py +703 -0
  4. pheval/analyse/generate_plots.py +312 -0
  5. pheval/analyse/generate_summary_outputs.py +186 -0
  6. pheval/analyse/rank_stats.py +61 -0
  7. pheval/cli.py +22 -7
  8. pheval/cli_pheval.py +37 -12
  9. pheval/cli_pheval_utils.py +225 -8
  10. pheval/config_parser.py +36 -0
  11. pheval/constants.py +1 -0
  12. pheval/implementations/__init__.py +1 -3
  13. pheval/post_processing/__init__.py +0 -0
  14. pheval/post_processing/post_processing.py +210 -0
  15. pheval/prepare/__init__.py +0 -0
  16. pheval/prepare/create_noisy_phenopackets.py +173 -0
  17. pheval/prepare/create_spiked_vcf.py +366 -0
  18. pheval/prepare/custom_exceptions.py +47 -0
  19. pheval/prepare/update_phenopacket.py +53 -0
  20. pheval/resources/alternate_ouputs/CADA_results.txt +11 -0
  21. pheval/resources/alternate_ouputs/DeepPVP_results.txt +22 -0
  22. pheval/resources/alternate_ouputs/OVA_results.txt +11 -0
  23. pheval/resources/alternate_ouputs/Phen2Gene_results.json +814 -0
  24. pheval/resources/alternate_ouputs/Phenolyzer_results.txt +12 -0
  25. pheval/resources/alternate_ouputs/lirical_results.tsv +152 -0
  26. pheval/resources/alternate_ouputs/svanna_results.tsv +9 -0
  27. pheval/resources/hgnc_complete_set_2022-10-01.txt +43222 -0
  28. pheval/run_metadata.py +27 -0
  29. pheval/runners/runner.py +92 -11
  30. pheval/utils/__init__.py +0 -0
  31. pheval/utils/docs_gen.py +105 -0
  32. pheval/utils/docs_gen.sh +18 -0
  33. pheval/utils/file_utils.py +88 -0
  34. pheval/utils/phenopacket_utils.py +356 -0
  35. pheval/utils/semsim_utils.py +156 -0
  36. {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/METADATA +12 -4
  37. pheval-0.2.0.dist-info/RECORD +41 -0
  38. {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/WHEEL +1 -1
  39. pheval/utils.py +0 -7
  40. pheval-0.1.0.dist-info/RECORD +0 -13
  41. {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/LICENSE +0 -0
  42. {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/entry_points.txt +0 -0
pheval/resources/alternate_ouputs/lirical_results.tsv ADDED
@@ -0,0 +1,152 @@
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+ ! LIRICAL TSV Output (2.0.0-RC1)
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+ ! Sample: Patient 5
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+ ! Observed HPO terms
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+ ! Macrocephaly <a href="https://hpo.jax.org/app/browse/term/HP:0000256">HP:0000256</a>
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+ ! Cerebral atrophy <a href="https://hpo.jax.org/app/browse/term/HP:0002059">HP:0002059</a>
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+ ! Subdural hemorrhage <a href="https://hpo.jax.org/app/browse/term/HP:0100309">HP:0100309</a>
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+ ! Glutaric aciduria <a href="https://hpo.jax.org/app/browse/term/HP:0003150">HP:0003150</a>
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+ ! Dystonia <a href="https://hpo.jax.org/app/browse/term/HP:0001332">HP:0001332</a>
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+ rank diseaseName diseaseCurie pretestprob posttestprob compositeLR entrezGeneId variants
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+ 1 Glutaric acidemia I OMIM:231670 1/8371 65.60% 4.203 NCBIGene:2639 19:12998205G>C NM_006563.3:: pathogenicity:0.0 [0/0]; 19:13002033A>G NM_000159.3:c.-35+17A>G:p.(=) pathogenicity:0.0 [1/1]; 19:13002400G>C NM_000159.3:c.127+64G>C:p.(=) pathogenicity:0.0 [0/1]; 19:13002563T>G NM_000159.3:c.128-82T>G:p.(=) pathogenicity:0.0 [0/1]; 19:13007113G>A NM_000159.3:c.730G>A:p.(G244S) pathogenicity:1.0 [1/1]; 19:13008264C>T NM_000159.3:c.1082+22C>T:p.(=) pathogenicity:0.0 [0/1]; 19:13008607G>T NM_000159.3:c.1173G>T:p.(=) pathogenicity:0.0 [0/1]; 19:13010520A>G NM_013976.3:c.1250A>G:p.(Q417R) pathogenicity:0.0 [0/1]; 19:13010643G>T NM_001105578.1:c.612+175C>A:p.(=) pathogenicity:0.0 [0/1]
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+ 2 Brain small vessel disease 2 OMIM:614483 1/8371 0.00% -1.876 NCBIGene:1284 13:110959643A>C NM_001846.2:c.-277A>C:p.(=) pathogenicity:0.0 [1/1]; 13:110962155G>A NM_001846.2:c.99+1685G>A:p.(=) pathogenicity:0.0 [1/1]; 13:110963428G>T NM_001846.2:c.99+2958G>T:p.(=) pathogenicity:0.0 [./.]; 13:110966164TGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGC>T NM_001846.2:c.99+5695_99+5728del:p.(=) pathogenicity:0.0 [./.]; 13:110979797G>C NM_001846.2:c.99+19327G>C:p.(=) pathogenicity:0.0 [1/1]; 13:110988416G>A NM_001846.2:c.100-21403G>A:p.(=) pathogenicity:0.0 [1/1]; 13:110999616C>A NM_001846.2:c.100-10203C>A:p.(=) pathogenicity:0.0 [1/1]; 13:110999664A>T NM_001846.2:c.100-10155A>T:p.(=) pathogenicity:0.0 [1/1]; 13:111008442GC>G NM_001846.2:c.100-1376del:p.(=) pathogenicity:0.0 [0/1]; 13:111009643G>A NM_001846.2:c.100-176G>A:p.(=) pathogenicity:0.0 [0/1]; 13:111014165A>C NM_001846.2:c.180+4266A>C:p.(=) pathogenicity:0.0 [1/1]; 13:111016025C>T NM_001846.2:c.180+6126C>T:p.(=) pathogenicity:0.0 [./.]; 13:111022143T>C NM_001846.2:c.180+12244T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111033821C>A NM_001846.2:c.180+23922C>A:p.(=) pathogenicity:0.0 [1/1]; 13:111035556T>C NM_001846.2:c.180+25657T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111040299C>T NM_001846.2:c.180+30400C>T:p.(=) pathogenicity:0.0 [1/1]; 13:111047350C>A NM_001846.2:c.181-29731C>A:p.(=) pathogenicity:0.0 [1/1]; 13:111060503G>A NM_001846.2:c.181-16578G>A:p.(=) pathogenicity:0.0 [0/0]; 13:111060509G>C NM_001846.2:c.181-16572G>C:p.(=) pathogenicity:0.0 [0/0]; 13:111061059T>C NM_001846.2:c.181-16022T>C:p.(=) pathogenicity:0.0 [./.]; 13:111062076A>G NM_001846.2:c.181-15005A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111062680G>A NM_001846.2:c.181-14401G>A:p.(=) pathogenicity:0.0 [./.]; 13:111063757C>T NM_001846.2:c.181-13324C>T:p.(=) pathogenicity:0.0 [1/1]; 13:111069635G>A NM_001846.2:c.181-7446G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111074859A>G NM_001846.2:c.181-2222A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111076987C>CAAAA NM_001846.2:c.181-94_181-93insAAAA:p.(=) pathogenicity:0.0 [1/1]; 13:111077197G>A NM_001846.2:c.297G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111077400AT>A NM_001846.2:c.360+57del:p.(=) pathogenicity:0.0 [1/1]; 13:111077450G>A NM_001846.2:c.360+106G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111077516A>G NM_001846.2:c.360+172A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111080525TAGAC>T NM_001846.2:c.361-288_361-285del:p.(=) pathogenicity:0.0 [1/1]; 13:111080609G>A NM_001846.2:c.361-205G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111082058T>C NM_001846.2:c.478-174T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111082157C>A NM_001846.2:c.478-75C>A:p.(=) pathogenicity:0.0 [1/1]; 13:111085789G>GA NM_001846.2:c.685-959_685-958insA:p.(=) pathogenicity:0.0 [./.]; 13:111086506G>A NM_001846.2:c.685-242G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111090854A>G NM_001846.2:c.862-111A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111090909T>C NM_001846.2:c.862-56T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111090924G>A NM_001846.2:c.862-41G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111091157C>A NM_001846.2:c.912+142C>A:p.(=) pathogenicity:0.0 [0/1]; 13:111091231A>G NM_001846.2:c.912+216A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111098110C>T NM_001846.2:c.958-66C>T:p.(=) pathogenicity:0.0 [1/1]; 13:111098338A>T NM_001846.2:c.1011+109A>T:p.(=) pathogenicity:0.0 [1/1]; 13:111098700A>G NM_001846.2:c.1012-445A>G:p.(=) pathogenicity:0.0 [./.]; 13:111099057G>A NM_001846.2:c.1012-88G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111099122G>A NM_001846.2:c.1012-23G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111102718C>T NM_001846.2:c.1256C>T:p.(A419V) pathogenicity:1.0 [0/1]; 13:111102865G>A NM_001846.2:c.1339+64G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111107640G>A NM_001846.2:c.1340-2050G>A:p.(=) pathogenicity:0.0 [./.]; 13:111109157G>A NM_001846.2:c.1340-533G>A:p.(=) pathogenicity:0.0 [./.]; 13:111109575TGATG>T NM_001846.2:c.1340-114_1340-111del:p.(=) pathogenicity:0.0 [1/1]; 13:111109580CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG>C NM_001846.2:c.1340-109_1340-72del:p.(=) pathogenicity:0.0 [1/1]; 13:111109859A>G NM_001846.2:c.1432+77A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111109960T>C NM_001846.2:c.1432+178T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111111023T>C NM_001846.2:c.1433-95T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111111043G>A NM_001846.2:c.1433-75G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111111173G>A NM_001846.2:c.1488G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111111235G>A NM_001846.2:c.1550G>A:p.(R517K) pathogenicity:0.0 [1/1]; 13:111111382G>A NM_001846.2:c.1596+101G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111111455T>C NM_001846.2:c.1596+174T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111114176C>A NM_001846.2:c.1597-285C>A:p.(=) pathogenicity:0.0 [./.]; 13:111114177C>A NM_001846.2:c.1597-284C>A:p.(=) pathogenicity:0.0 [./.]; 13:111114554G>A NM_001846.2:c.1669+21G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111114920A>G NM_001846.2:c.1776+189A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111117668G>A NM_001846.2:c.1777-84G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111117745C>T NM_001846.2:c.1777-7C>T:p.? pathogenicity:0.0 [1/1]; 13:111118102G>A NM_001846.2:c.1978+149G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111118221T>C NM_001846.2:c.1979-129T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111118546T>G NM_001846.2:c.2038+137T>G:p.(=) pathogenicity:0.0 [1/1]; 13:111119052C>G NM_001846.2:c.2039-335C>G:p.(=) pathogenicity:0.0 [1/1]; 13:111119077A>G NM_001846.2:c.2039-310A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111119146A>T NM_001846.2:c.2039-241A>T:p.(=) pathogenicity:0.0 [1/1]; 13:111119296A>G NM_001846.2:c.2039-91A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111119620C>T NM_001846.2:c.2095+177C>T:p.(=) pathogenicity:0.0 [1/1]; 13:111119654T>C NM_001846.2:c.2095+211T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111121444C>A NM_001846.2:c.2096-120C>A:p.(=) pathogenicity:0.0 [0/1]; 13:111121483A>G NM_001846.2:c.2096-81A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111121620C>T NM_001846.2:c.2152C>T:p.(P718S) pathogenicity:0.0 [1/1]; 13:111121717A>G NM_001846.2:c.2203+46A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111121873C>T NM_001846.2:c.2203+202C>T:p.(=) pathogenicity:0.0 [1/1]; 13:111130226G>A NM_001846.2:c.2426-124G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111130599G>C NM_001846.2:c.2587+88G>C:p.(=) pathogenicity:0.0 [1/1]; 13:111132413C>T NM_001846.2:c.2588-154C>T:p.(=) pathogenicity:0.0 [0/1]; 13:111132490A>G NM_001846.2:c.2588-77A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111132556C>T NM_001846.2:c.2588-11C>T:p.(=) pathogenicity:0.0 [0/1]; 13:111132820G>A NM_001846.2:c.2758+83G>A:p.(=) pathogenicity:0.0 [0/1]; 13:111134466A>T NM_001846.2:c.2759-397A>T:p.(=) pathogenicity:0.0 [./.]; 13:111134780G>A NM_001846.2:c.2759-83G>A:p.(=) pathogenicity:0.0 [0/1]; 13:111137167T>C NM_001846.2:c.2903-85T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111138538T>C NM_001846.2:c.3207+355T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111143755T>C NM_001846.2:c.3454+68T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111145073G>C NM_001846.2:c.3563-485G>C:p.(=) pathogenicity:0.0 [1/1]; 13:111145310A>C NM_001846.2:c.3563-248A>C:p.(=) pathogenicity:0.0 [./.]; 13:111145398AGGTGAAATAACGATGAGTGACACCCCCATG>A NM_001846.2:c.3563-159_3563-130del:p.(=) pathogenicity:0.0 [1/1]; 13:111145676G>C NM_001846.2:c.3634+47G>C:p.(=) pathogenicity:0.0 [1/1]; 13:111146417A>ATT NM_001846.2:c.3634+788_3634+789insTT:p.(=) pathogenicity:0.0 [1/1]; 13:111146678GA>G NM_001846.2:c.3635-1010del:p.(=) pathogenicity:0.0 [1/1]; 13:111148659G>C NM_001846.2:c.3760+845G>C:p.(=) pathogenicity:0.0 [1/1]; 13:111149960CAG>C NM_001846.2:c.3760+2147_3760+2148del:p.(=) pathogenicity:0.0 [1/1]; 13:111150706T>C NM_001846.2:c.3760+2892T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111150714T>C NM_001846.2:c.3760+2900T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111151692T>C NM_001846.2:c.3761-2323T>C:p.(=) pathogenicity:0.0 [./.]; 13:111153934G>A NM_001846.2:c.3761-81G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111154058T>A NM_001846.2:c.3804A>A:p.(=) pathogenicity:0.0 [1/1]; 13:111154061T>C NM_001846.2:c.3807C>C:p.(=) pathogenicity:0.0 [1/1]; 13:111154160G>A NM_001846.2:c.3877+29G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111155271T>C NM_001846.2:c.3878-197T>C:p.(=) pathogenicity:0.0 [0/1]; 13:111155363G>A NM_001846.2:c.3878-105G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111155428C>T NM_001846.2:c.3878-40C>T:p.(=) pathogenicity:0.0 [1/1]; 13:111155711C>T NM_001846.2:c.4040-19C>T:p.(=) pathogenicity:0.0 [0/1]; 13:111155773T>C NM_001846.2:c.4083C>C:p.(=) pathogenicity:0.0 [1/1]; 13:111155779G>A NM_001846.2:c.4089G>A:p.(=) pathogenicity:0.0 [0/1]; 13:111156011A>C NM_001846.2:c.4138+183A>C:p.(=) pathogenicity:0.0 [0/1]; 13:111156021C>T NM_001846.2:c.4139-173C>T:p.(=) pathogenicity:0.0 [0/1]; 13:111156047C>G NM_001846.2:c.4139-147C>G:p.(=) pathogenicity:0.0 [0/1]; 13:111156153G>A NM_001846.2:c.4139-41G>A:p.(=) pathogenicity:0.0 [0/1]; 13:111156411G>A NM_001846.2:c.4285+71G>A:p.(=) pathogenicity:0.0 [0/1]; 13:111156499C>T NM_001846.2:c.4290T>T:p.(=) pathogenicity:0.0 [1/1]; 13:111156773A>G NM_001846.2:c.4402+162A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111158874A>G NM_001846.2:c.4515A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111159054G>A NM_001846.2:c.4594+101G>A:p.(=) pathogenicity:0.0 [1/1]; 13:111160418C>T NM_001846.2:c.4731C>T:p.(=) pathogenicity:0.1 [0/1]; 13:111164614T>C NM_001846.2:c.*76T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111164628TAA>T NM_001846.2:c.*101_*102del:p.(=) pathogenicity:0.0 [1/1]; 13:111164955C>G NM_001846.2:c.*417C>G:p.(=) pathogenicity:0.0 [1/1]; 13:111165095A>G NM_001846.2:c.*557A>G:p.(=) pathogenicity:0.0 [1/1]; 13:111165188T>C NM_001846.2:c.*650T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111165201T>C NM_001846.2:c.*663T>C:p.(=) pathogenicity:0.0 [1/1]; 13:111169661T>C NM_001846.2:: pathogenicity:0.0 [1/1]
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+ 3 Diencephalic-mesencephalic junction dysplasia syndrome 2 OMIM:618646 1/8371 0.00% -2.487 NCBIGene:170825 4:54950725C>T NM_133267.2:: pathogenicity:0.0 [1/1]; 4:54966667C>T NM_133267.2:c.156C>T:p.(=) pathogenicity:0.0 [1/1]; 4:54966830G>A NM_133267.2:c.319A>A:p.(=) pathogenicity:0.0 [1/1]; 4:54966910G>GCACCAC NM_133267.2:c.402_407dup:p.(H138_H139dup) pathogenicity:0.9 [1/1]; 4:54967709C>A NM_133267.2:c.575-40C>A:p.(=) pathogenicity:0.0 [1/1]; 4:55002331T>C NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55009968C>T NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55010012G>T NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55011769T>C NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55013951T>C NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55026539ACT>A NM_133267.2:: pathogenicity:0.0 [./.]; 4:55075763AG>A NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55075765AAAG>A NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55082158G>A NM_133267.2:: pathogenicity:0.0 [1/1]; 4:55087144G>A NM_133267.2:: pathogenicity:0.0 [0/1]; 4:55087241C>CA NM_133267.2:: pathogenicity:0.0 [0/1]; 4:55087581C>A NM_133267.2:: pathogenicity:0.0 [0/1]
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+ 4 Phenylketonuria OMIM:261600 1/8371 0.00% -3.244 NCBIGene:5053 12:103227951A>T NM_000277.1:: pathogenicity:0.0 [1/1]; 12:103227955A>T NM_000277.1:: pathogenicity:0.0 [1/1]; 12:103227959A>T NM_000277.1:: pathogenicity:0.0 [1/1]; 12:103234252T>C NM_000277.1:c.1241A>G:p.(Y414C) pathogenicity:1.0 [0/1]; 12:103234479A>G NM_000277.1:c.1200-186T>C:p.(=) pathogenicity:0.0 [1/1]; 12:103237468G>C NM_000277.1:c.1155G>G:p.(=) pathogenicity:0.0 [1/1]; 12:103237909T>A NM_000277.1:c.1065+205A>T:p.(=) pathogenicity:0.0 [1/1]; 12:103238017C>T NM_000277.1:c.1065+97G>A:p.(=) pathogenicity:0.0 [1/1]; 12:103238319GTGTCTA>G NM_000277.1:c.970-116_970-111del:p.(=) pathogenicity:0.0 [1/1]; 12:103238404C>T NM_000277.1:c.970-195G>A:p.(=) pathogenicity:0.0 [./.]; 12:103246700C>T NM_000277.1:c.735G>A:p.(=) pathogenicity:0.0 [1/1]; 12:103250460T>C NM_000277.1:c.510-1350A>G:p.(=) pathogenicity:0.0 [1/1]; 12:103260273T>G NM_000277.1:c.509+101A>C:p.(=) pathogenicity:0.0 [1/1]; 12:103271350G>A NM_000277.1:c.353-22C>T:p.(=) pathogenicity:0.0 [1/1]
14
+ 5 Smith-Lemli-Opitz syndrome OMIM:270400 1/8371 0.00% -3.341 NCBIGene:1717 11:71139736A>C NM_001163817.1:: pathogenicity:0.0 [1/1]; 11:71140455T>G NM_001163817.1:: pathogenicity:0.0 [./.]; 11:71140486C>A NM_001163817.1:: pathogenicity:0.0 [./.]; 11:71145778G>A NM_001163817.1:c.*643C>T:p.(=) pathogenicity:0.0 [./.]; 11:71146577G>A NM_001163817.1:c.1272C>T:p.(=) pathogenicity:0.0 [1/1]; 11:71146691A>G NM_001163817.1:c.1158T>C:p.(=) pathogenicity:0.0 [1/1]; 11:71146837C>T NM_001163817.1:c.1012G>A:p.(V338M) pathogenicity:0.8 [0/1]; 11:71146952G>A NM_001163817.1:c.964-67C>T:p.(=) pathogenicity:0.0 [1/1]; 11:71148304T>G NM_001163817.1:c.963+554A>C:p.(=) pathogenicity:0.0 [1/1]; 11:71149069A>G NM_001163817.1:c.832-80T>C:p.(=) pathogenicity:0.0 [1/1]; 11:71149137G>A NM_001163817.1:c.832-148C>T:p.(=) pathogenicity:0.0 [1/1]; 11:71149856C>T NM_001163817.1:c.831+69G>A:p.(=) pathogenicity:0.0 [1/1]; 11:71150217C>T NM_001163817.1:c.627-88G>A:p.(=) pathogenicity:0.0 [1/1]; 11:71150296C>T NM_001163817.1:c.627-167G>A:p.(=) pathogenicity:0.0 [1/1]; 11:71153459C>A NM_001163817.1:c.322-60G>T:p.(=) pathogenicity:0.0 [1/1]; 11:71154204A>G NM_001163817.1:c.322-805T>C:p.(=) pathogenicity:0.0 [./.]; 11:71154820G>A NM_001163817.1:c.321+219C>T:p.(=) pathogenicity:0.0 [1/1]; 11:71155153A>G NM_001163817.1:c.207T>C:p.(=) pathogenicity:0.0 [1/1]; 11:71155171C>T NM_001163817.1:c.189G>A:p.(=) pathogenicity:0.0 [1/1]; 11:71155641A>G NM_001163817.1:c.98+260T>C:p.(=) pathogenicity:0.0 [1/1]; 11:71158841A>C NM_001163817.1:c.-131-61T>G:p.(=) pathogenicity:0.0 [0/1]; 11:71159429G>A NM_001163817.1:c.-202C>T:p.(=) pathogenicity:0.0 [1/1]; 11:71160395G>C NM_001360.2:: pathogenicity:0.0 [1/1]
15
+ 6 Leber optic atrophy OMIM:535000 1/8371 0.00% -3.559 NCBIGene:4540 MT:12706T>C MTND5:c.370T>C:p.(F124L) pathogenicity:1.0 [1/1]; MT:12851G>A MTND5:c.515T>A:p.(I172N) pathogenicity:0.6 [1/1]; MT:13327T>C MTND5:c.991A>C:p.(T331P) pathogenicity:0.6 [1/1]; MT:13681C>T MTND5:c.1345A>T:p.(T449S) pathogenicity:0.6 [1/1]
16
+ 7 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes OMIM:540000 1/8371 0.00% -3.762 NCBIGene:4540 MT:12706T>C MTND5:c.370T>C:p.(F124L) pathogenicity:1.0 [1/1]; MT:12851G>A MTND5:c.515T>A:p.(I172N) pathogenicity:0.6 [1/1]; MT:13327T>C MTND5:c.991A>C:p.(T331P) pathogenicity:0.6 [1/1]; MT:13681C>T MTND5:c.1345A>T:p.(T449S) pathogenicity:0.6 [1/1]
17
+ 8 Mucolipidosis IV OMIM:252650 1/8371 0.00% -3.777 NCBIGene:57192 19:7593048C>T NM_020533.2:c.782C>T:p.(T261M) pathogenicity:0.8 [0/1]; 19:7593169A>G NM_020533.2:c.877+26A>G:p.(=) pathogenicity:0.0 [0/1]; 19:7594392G>C NM_020533.2:c.1237-84G>C:p.(=) pathogenicity:0.0 [0/1]; 19:7594397T>C NM_020533.2:c.1237-79T>C:p.(=) pathogenicity:0.0 [0/1]; 19:7594401A>C NM_020533.2:c.1237-75A>C:p.(=) pathogenicity:0.0 [0/1]; 19:7595074A>G NM_020533.2:c.1360-98A>G:p.(=) pathogenicity:0.0 [0/1]
18
+ 9 Combined oxidative phosphorylation deficiency 22 OMIM:616045 1/8371 0.00% -4.099 NCBIGene:498 18:43652345A>G NM_024430.3:: pathogenicity:0.0 [1/1]; 18:43655239G>A NM_024430.3:: pathogenicity:0.0 [1/1]; 18:43656620T>A NM_024430.3:: pathogenicity:0.0 [./.]; 18:43661443C>T NM_001257334.1:: pathogenicity:0.0 [1/1]; 18:43661446C>G NM_001257334.1:: pathogenicity:0.0 [1/1]; 18:43664115T>C NM_001001935.2:c.*133A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43664801AAC>A NM_001001935.2:c.1280-183_1280-182del:p.(=) pathogenicity:0.0 [1/1]; 18:43665982C>T NM_001001935.2:c.1279+97G>A:p.(=) pathogenicity:0.0 [1/1]; 18:43666280TAGTTAATATATTAATACCTTAAGA>T NM_001001935.2:c.1134+49_1135-58del:p.(=) pathogenicity:0.0 [1/1]; 18:43666774T>C NM_001001935.2:c.1026+200A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43666786C>T NM_001001935.2:c.1026+188G>A:p.(=) pathogenicity:0.0 [1/1]; 18:43666861T>C NM_001001935.2:c.1026+113A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43666952C>A NM_001001935.2:c.1026+22G>T:p.(=) pathogenicity:0.0 [1/1]; 18:43667528T>C NM_001001935.2:c.650-70A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43668321G>T NM_001001935.2:c.501-98C>A:p.(=) pathogenicity:0.0 [1/1]; 18:43669980T>C NM_001001935.2:c.160-18A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43674879A>T NM_001001937.1:c.139+140T>A:p.(=) pathogenicity:0.0 [0/1]; 18:43675364T>C NM_001001937.1:c.61-267A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43678024G>A NM_001001937.1:c.60+114C>T:p.(=) pathogenicity:0.0 [1/1]; 18:43678035T>C NM_001001937.1:c.60+103A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43678328ACC>A XM_005258282.1:c.34_35del:p.(G12fs) pathogenicity:1.0 [1/1]; 18:43678333CTCT>C XM_005258282.1:c.28_30del:p.(R10del) pathogenicity:0.0 [1/1]; 18:43678336T>C XM_005258282.1:c.28A>G:p.(R10G) pathogenicity:0.0 [0/1]; 18:43678706C>T NM_001001937.1:c.-48-461G>A:p.(=) pathogenicity:0.0 [1/1]
19
+ 10 Congenital cataracts, hearing loss, and neurodegeneration OMIM:614482 1/8371 0.00% -4.234 NCBIGene:9197 3:155526790C>T XM_005247378.1:: pathogenicity:0.0 [./.]; 3:155527287A>T XM_005247378.1:: pathogenicity:0.0 [./.]; 3:155528565T>C XM_005247378.1:: pathogenicity:0.0 [1/1]; 3:155546124C>T NM_001190992.1:c.1525G>A:p.(G509S) pathogenicity:0.9 [0/1]; 3:155551990G>A NM_001190992.1:c.964-160C>T:p.(=) pathogenicity:0.0 [1/1]; 3:155569197AT>A NM_001190992.1:c.775+1814del:p.(=) pathogenicity:0.0 [1/1]; 3:155570076C>A NM_001190992.1:c.775+936G>T:p.(=) pathogenicity:0.0 [./.]; 3:155572129C>T NM_001190992.1:c.-343G>A:p.(=) pathogenicity:0.0 [1/1]; 3:155578665C>A NM_003875.2:: pathogenicity:0.0 [./.]; 3:155579375AT>A NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155582285C>T NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155582293A>C NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155582301T>C NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155584650A>C NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155584653C>G NM_003875.2:: pathogenicity:0.0 [1/1]
20
+ 11 Epileptic encephalopathy, early infantile, 14 OMIM:614959 1/8371 0.00% -4.359 NCBIGene:57582 9:138591980C>T NM_001101677.1:: pathogenicity:0.0 [1/1]; 9:138596974G>A NM_001272003.1:c.110+2760G>A:p.(=) pathogenicity:0.0 [./.]; 9:138610259A>G NM_001272003.1:c.110+16045A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138639874A>G NM_001272003.1:c.111-2070A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138642912C>A NM_001272003.1:c.290+25C>A:p.(=) pathogenicity:0.0 [0/1]; 9:138644203T>C NM_001272003.1:c.290+1316T>C:p.(=) pathogenicity:0.0 [1/1]; 9:138645716C>T NM_001272003.1:c.291-67C>T:p.(=) pathogenicity:0.0 [0/1]; 9:138646881C>T NM_001272003.1:c.348-86C>T:p.(=) pathogenicity:0.0 [0/1]; 9:138648851C>CTCCCATCT NM_001272003.1:c.456+73_456+74insTCCCATCT:p.(=) pathogenicity:0.0 [0/1]; 9:138648955A>C NM_001272003.1:c.457-47A>C:p.(=) pathogenicity:0.0 [0/0]; 9:138653491G>T NM_001272003.1:c.900+1786G>T:p.(=) pathogenicity:0.0 [0/0]; 9:138653508A>G NM_001272003.1:c.900+1803A>G:p.(=) pathogenicity:0.0 [0/0]; 9:138655660G>A NM_001272003.1:c.901-1217G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138655672T>G NM_001272003.1:c.901-1205T>G:p.(=) pathogenicity:0.0 [1/1]; 9:138656707A>G NM_001272003.1:c.901-170A>G:p.(=) pathogenicity:0.0 [./.]; 9:138656783T>C NM_001272003.1:c.901-94T>C:p.(=) pathogenicity:0.0 [1/1]; 9:138656838A>G NM_001272003.1:c.901-39A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138657053T>G NM_001272003.1:c.1065+12T>G:p.(=) pathogenicity:0.0 [1/1]; 9:138657171T>C NM_001272003.1:c.1065+130T>C:p.(=) pathogenicity:0.0 [1/1]; 9:138657195CGCCATCCTCTCCCCAGGACT>C NM_001272003.1:c.1065+155_1065+174del:p.(=) pathogenicity:0.0 [1/1]; 9:138657635A>G NM_001272003.1:c.1202+29A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138657687G>A NM_001272003.1:c.1202+81G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138657727A>C NM_001272003.1:c.1202+121A>C:p.(=) pathogenicity:0.0 [1/1]; 9:138659562C>G NM_001272003.1:c.1203-894C>G:p.(=) pathogenicity:0.0 [1/1]; 9:138660237G>A NM_001272003.1:c.1203-219G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138660879A>G NM_001272003.1:c.1375+96A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138660945ATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGG>A NM_001272003.1:c.1375+163_1375+202del:p.(=) pathogenicity:0.0 [1/1]; 9:138660989A>G NM_001272003.1:c.1375+206A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138662309A>G NM_001272003.1:c.1634+16A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138662360T>G NM_001272003.1:c.1634+67T>G:p.(=) pathogenicity:0.0 [1/1]; 9:138662962G>A NM_001272003.1:c.1873+21G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138663945G>A NM_001272003.1:c.1874-616G>A:p.(=) pathogenicity:0.0 [./.]; 9:138664973G>A NM_001272003.1:c.2108+178G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138665623A>G NM_001272003.1:c.2108+828A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138669261G>A NM_001272003.1:c.2292G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138669831A>ATGCTCTCAGCTCCTCCC NM_001272003.1:c.2388-439_2388-438insTGCTCTCAGCTCCTCCC:p.(=) pathogenicity:0.0 [0/1]; 9:138672257C>T NM_001272003.1:c.2706+941C>T:p.(=) pathogenicity:0.0 [1/1]; 9:138674133C>T NM_001272003.1:c.2707-1737C>T:p.(=) pathogenicity:0.0 [1/1]; 9:138674134A>G NM_001272003.1:c.2707-1736A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138675790C>G NM_001272003.1:c.2707-80C>G:p.(=) pathogenicity:0.0 [0/1]; 9:138675801A>C NM_001272003.1:c.2707-69A>C:p.(=) pathogenicity:0.0 [0/1]; 9:138676328GCTCCCTCCCTCC>G NM_001272003.1:c.2809-52_2809-41del:p.(=) pathogenicity:0.0 [0/1]; 9:138678016CGCCCT>C NM_001272003.1:c.3043-26_3043-22del:p.(=) pathogenicity:0.0 [0/1]; 9:138683575T>C NM_001272003.1:c.3431-68T>C:p.(=) pathogenicity:0.0 [0/1]; 9:138683790T>C NM_001272003.1:c.3515+63T>C:p.(=) pathogenicity:0.0 [0/1]; 9:138683798C>T NM_001272003.1:c.3515+71C>T:p.(=) pathogenicity:0.0 [0/1]; 9:138683984A>G NM_001272003.1:c.3613A>G:p.(T1205A) pathogenicity:1.0 [0/1]; 9:138684454A>G NM_001272003.1:c.*447A>G:p.(=) pathogenicity:0.0 [0/1]; 9:138695875CT>C XM_005263397.1:: pathogenicity:0.0 [./.]
21
+ 12 Plasminogen deficiency, type I OMIM:217090 1/8371 0.00% -4.364 NCBIGene:5340 6:161100557G>T XM_005266985.1:: pathogenicity:0.0 [1/1]; 6:161100558C>T XM_005266985.1:: pathogenicity:0.0 [1/1]; 6:161122931G>A NM_001168338.1:: pathogenicity:0.0 [0/1]; 6:161123158G>T NM_001168338.1:: pathogenicity:0.0 [0/1]; 6:161123185T>C NM_001168338.1:: pathogenicity:0.0 [0/1]; 6:161123413G>T NM_000301.3:c.49+28G>T:p.(=) pathogenicity:0.0 [0/1]; 6:161123842C>A NM_000301.3:c.49+457C>A:p.(=) pathogenicity:0.0 [0/0]; 6:161127501A>G NM_000301.3:c.112A>G:p.(K38E) pathogenicity:0.8 [0/1]; 6:161128922A>G NM_000301.3:c.292+84A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161129013G>A NM_000301.3:c.292+175G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161132146C>T NM_000301.3:c.330C>T:p.(=) pathogenicity:0.0 [1/1]; 6:161132417T>G NM_000301.3:c.407+194T>G:p.(=) pathogenicity:0.0 [1/1]; 6:161132725T>C NM_000301.3:c.407+502T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161132804T>C NM_000301.3:c.407+581T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161132830G>A NM_000301.3:c.407+607G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161133125G>C NM_000301.3:c.408-893G>C:p.(=) pathogenicity:0.0 [./.]; 6:161134273C>G NM_000301.3:c.547+116C>G:p.(=) pathogenicity:0.0 [1/1]; 6:161135667CTTATTGCCAATT>C NM_000301.3:c.548-158_548-147del:p.(=) pathogenicity:0.0 [1/1]; 6:161137663T>G NM_000301.3:c.669-14T>G:p.(=) pathogenicity:0.0 [1/1]; 6:161139857A>G NM_000301.3:c.1083A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161143608T>C NM_000301.3:c.1256+9T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161152240G>A NM_000301.3:c.1414G>A:p.(D472N) pathogenicity:0.0 [1/1]; 6:161152294A>G NM_000301.3:c.1438+30A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161153080A>C NM_000301.3:c.1587+155A>C:p.(=) pathogenicity:0.0 [1/1]; 6:161156296C>T NM_000301.3:c.1681+1176C>T:p.(=) pathogenicity:0.0 [1/1]; 6:161158998C>CA NM_000301.3:c.1803-572_1803-571insA:p.(=) pathogenicity:0.0 [1/1]; 6:161159001T>A NM_000301.3:c.1803-569T>A:p.(=) pathogenicity:0.0 [1/1]; 6:161159006T>C NM_000301.3:c.1803-564T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161159016A>G NM_000301.3:c.1803-554A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161160083G>A NM_000301.3:c.1878-17G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161174658G>A NM_000301.3:c.*565G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161175004C>T NM_000301.3:c.*911C>T:p.(=) pathogenicity:0.0 [1/1]; 6:161204811T>TGA XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161240761C>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161268900G>GA XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161316375G>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161318736C>A XR_245517.1:: pathogenicity:0.0 [./.]; 6:161318811A>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161319046T>A XR_245517.1:: pathogenicity:0.0 [./.]; 6:161319183C>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161319568ATT>A XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161319570T>TAGAAA XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161319572C>CAGGAGAA XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161319573T>A XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161321103A>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161321552C>A XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161337411A>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161343052T>G XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161353662T>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161398072CAAA>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161410588CAA>C XR_245517.1:: pathogenicity:0.0 [./.]
22
+ 13 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4 OMIM:615268 1/8371 0.00% -4.831 NCBIGene:51761 13:25919524A>ATAGAT NM_014089.3:: pathogenicity:0.0 [./.]; 13:25919624C>T NM_014089.3:: pathogenicity:0.0 [./.]; 13:25919651TTTC>T NM_014089.3:: pathogenicity:0.0 [1/1]; 13:25924330A>G NM_016529.4:: pathogenicity:0.0 [./.]; 13:25946418C>G NM_016529.4:c.68C>G:p.(S23W) pathogenicity:1.0 [0/1]; 13:25948641T>C NM_016529.4:c.76+2215T>C:p.(=) pathogenicity:0.0 [1/1]; 13:25955112C>T NM_016529.4:c.76+8686C>T:p.(=) pathogenicity:0.0 [./.]; 13:25988656T>C NM_016529.4:c.76+42230T>C:p.(=) pathogenicity:0.0 [1/1]; 13:25996178C>T NM_016529.4:c.77-46937C>T:p.(=) pathogenicity:0.0 [1/1]; 13:25998243A>G NM_016529.4:c.77-44872A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26000360C>A NM_016529.4:c.77-42755C>A:p.(=) pathogenicity:0.0 [1/1]; 13:26003981A>G NM_016529.4:c.77-39134A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26014412C>A NM_016529.4:c.77-28703C>A:p.(=) pathogenicity:0.0 [1/1]; 13:26020247G>T NM_016529.4:c.77-22868G>T:p.(=) pathogenicity:0.0 [0/0]; 13:26020255C>T NM_016529.4:c.77-22860C>T:p.(=) pathogenicity:0.0 [0/0]; 13:26034969C>G NM_016529.4:c.77-8146C>G:p.(=) pathogenicity:0.0 [1/1]; 13:26038245A>G NM_016529.4:c.77-4870A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26043182A>C NM_016529.4:c.144A>C:p.(=) pathogenicity:0.0 [0/1]; 13:26043405T>C NM_016529.4:c.221+146T>C:p.(=) pathogenicity:0.0 [0/1]; 13:26064368G>A NM_016529.4:c.221+21109G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26074297A>G NM_016529.4:c.222-29840A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26104547G>A NM_016529.4:c.322-153G>A:p.(=) pathogenicity:0.0 [0/1]; 13:26104943T>G NM_016529.4:c.420+145T>G:p.(=) pathogenicity:0.0 [1/1]; 13:26107591A>C NM_016529.4:c.507+140A>C:p.(=) pathogenicity:0.0 [0/1]; 13:26107595C>T NM_016529.4:c.507+144C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26107596T>G NM_016529.4:c.507+145T>G:p.(=) pathogenicity:0.0 [1/1]; 13:26107606C>T NM_016529.4:c.507+155C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26120809C>T NM_016529.4:c.891+3269C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26121300A>G NM_016529.4:c.891+3760A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26125651G>A NM_016529.4:c.1057+10G>A:p.(=) pathogenicity:0.0 [0/1]; 13:26125731T>C NM_016529.4:c.1057+90T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26127821G>C NM_016529.4:c.1058-110G>C:p.(=) pathogenicity:0.0 [1/1]; 13:26128096T>C NM_016529.4:c.1185+38T>C:p.(=) pathogenicity:0.0 [0/1]; 13:26128128C>A NM_016529.4:c.1185+70C>A:p.(=) pathogenicity:0.0 [1/1]; 13:26128129A>G NM_016529.4:c.1185+71A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26128260C>G NM_016529.4:c.1185+202C>G:p.(=) pathogenicity:0.0 [1/1]; 13:26128982G>A NM_016529.4:c.1186-147G>A:p.(=) pathogenicity:0.0 [0/1]; 13:26132841C>A NM_016529.4:c.1264-270C>A:p.(=) pathogenicity:0.0 [1/1]; 13:26132951G>A NM_016529.4:c.1264-160G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26133009C>T NM_016529.4:c.1264-102C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26137813T>A NM_016529.4:c.1398-281T>A:p.(=) pathogenicity:0.0 [./.]; 13:26137957T>C NM_016529.4:c.1398-137T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26137989T>C NM_016529.4:c.1398-105T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26139746T>C NM_016529.4:c.1473+1577T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26144896C>T NM_016529.4:c.1474-9C>T:p.(=) pathogenicity:0.0 [0/1]; 13:26148727A>G NM_016529.4:c.1663-219A>G:p.(=) pathogenicity:0.0 [0/1]; 13:26148966C>T NM_016529.4:c.1683C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26155953G>C NM_016529.4:c.2008-4G>C:p.? pathogenicity:0.0 [1/1]; 13:26156262C>T NM_016529.4:c.2146+167C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26166650C>G NM_016529.4:c.2211+2813C>G:p.(=) pathogenicity:0.0 [./.]; 13:26170250T>C NM_016529.4:c.2211+6413T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26199181C>G NM_016529.4:c.2211+35344C>G:p.(=) pathogenicity:0.0 [./.]; 13:26217491G>A NM_016529.4:c.2211+53654G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26231549G>A NM_016529.4:c.2212-41762G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26234647G>T NM_016529.4:c.2212-38664G>T:p.(=) pathogenicity:0.0 [./.]; 13:26236041A>G NM_016529.4:c.2212-37270A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26260765AT>A NM_016529.4:c.2212-12545del:p.(=) pathogenicity:0.0 [1/1]; 13:26260770G>A NM_016529.4:c.2212-12541G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26261637A>AC NM_016529.4:c.2212-11674_2212-11673insC:p.(=) pathogenicity:0.0 [1/1]; 13:26268019C>T NM_016529.4:c.2212-5292C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26273385G>C NM_016529.4:c.2286G>C:p.(=) pathogenicity:0.0 [1/1]; 13:26273403C>A NM_016529.4:c.2304C>A:p.(=) pathogenicity:0.0 [0/1]; 13:26289912A>G NM_016529.4:c.2384+16429A>G:p.(=) pathogenicity:0.0 [./.]; 13:26293871A>G NM_016529.4:c.2384+20388A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26307413T>C NM_016529.4:c.2384+33930T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26319140A>G NM_016529.4:c.2385-24044A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26345934T>C NM_016529.4:c.2568+2567T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26345936G>T NM_016529.4:c.2568+2569G>T:p.(=) pathogenicity:0.0 [1/1]; 13:26356961C>T NM_016529.4:c.2679+7864C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26377897T>C NM_016529.4:c.2680-24359T>C:p.(=) pathogenicity:0.0 [./.]; 13:26386553C>T NM_016529.4:c.2680-15703C>T:p.(=) pathogenicity:0.0 [1/1]; 13:26410742T>C NM_016529.4:c.2755-559T>C:p.(=) pathogenicity:0.0 [./.]; 13:26411084T>C NM_016529.4:c.2755-217T>C:p.(=) pathogenicity:0.0 [./.]; 13:26417186T>TA NM_016529.4:c.2956+3424_2956+3425insA:p.(=) pathogenicity:0.0 [1/1]; 13:26421178T>A NM_016529.4:c.2956+7416T>A:p.(=) pathogenicity:0.0 [1/1]; 13:26422130G>A NM_016529.4:c.2956+8368G>A:p.(=) pathogenicity:0.0 [./.]; 13:26423082A>C NM_016529.4:c.2956+9320A>C:p.(=) pathogenicity:0.0 [./.]; 13:26435774T>C NM_016529.4:c.3076-665T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26436641C>T NM_016529.4:c.3183+95C>T:p.(=) pathogenicity:0.0 [0/1]; 13:26442685CT>C NM_016529.4:c.3183+6140del:p.(=) pathogenicity:0.0 [./.]; 13:26442696A>G NM_016529.4:c.3183+6150A>G:p.(=) pathogenicity:0.0 [./.]; 13:26448329T>C NM_016529.4:c.3183+11783T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26459619G>A NM_016529.4:c.3183+23073G>A:p.(=) pathogenicity:0.0 [0/1]; 13:26466128CT>C NM_016529.4:c.3183+29583del:p.(=) pathogenicity:0.0 [1/1]; 13:26466393T>C NM_016529.4:c.3183+29847T>C:p.(=) pathogenicity:0.0 [./.]; 13:26480090G>T NM_016529.4:c.3183+43544G>T:p.(=) pathogenicity:0.0 [1/1]; 13:26480093A>G NM_016529.4:c.3183+43547A>G:p.(=) pathogenicity:0.0 [1/1]; 13:26519541G>A NM_016529.4:c.3184-16172G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26523252A>G NM_016529.4:c.3184-12461A>G:p.(=) pathogenicity:0.0 [./.]; 13:26532182G>A NM_016529.4:c.3184-3531G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26532473C>A NM_016529.4:c.3184-3240C>A:p.(=) pathogenicity:0.0 [1/1]; 13:26535052T>C NM_016529.4:c.3184-661T>C:p.(=) pathogenicity:0.0 [1/1]; 13:26535625G>A NM_016529.4:c.3184-88G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26547225A>T NM_016529.4:c.3377+4408A>T:p.(=) pathogenicity:0.0 [1/1]; 13:26547353G>A NM_016529.4:c.3377+4536G>A:p.(=) pathogenicity:0.0 [0/1]; 13:26570050A>C NM_016529.4:c.3378-16619A>C:p.(=) pathogenicity:0.0 [1/1]; 13:26577357A>G NM_016529.4:c.3378-9312A>G:p.(=) pathogenicity:0.0 [./.]; 13:26577498T>TC NM_016529.4:c.3378-9171_3378-9170insC:p.(=) pathogenicity:0.0 [./.]; 13:26577514G>A NM_016529.4:c.3378-9155G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26579592G>A NM_016529.4:c.3378-7077G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26586073T>TA NM_016529.4:c.3378-596_3378-595insA:p.(=) pathogenicity:0.0 [1/1]; 13:26586775C>T NM_016529.4:c.3469+15C>T:p.(=) pathogenicity:0.0 [0/1]; 13:26586788A>C NM_016529.4:c.3469+28A>C:p.(=) pathogenicity:0.0 [0/1]; 13:26587321C>A NM_016529.4:c.3469+561C>A:p.(=) pathogenicity:0.0 [1/1]; 13:26594700T>G NM_016529.4:c.*577T>G:p.(=) pathogenicity:0.0 [0/1]; 13:26595421G>A XM_005266419.1:c.*1298G>A:p.(=) pathogenicity:0.0 [1/1]; 13:26601738A>G XM_005266420.1:: pathogenicity:0.0 [1/1]; 13:26613382C>G NM_001007538.1:: pathogenicity:0.0 [1/1]
23
+ 14 Ceroid lipofuscinosis, neuronal, 2 OMIM:204500 1/8371 0.00% -4.887 NCBIGene:1200 11:6636300A>G NM_000391.3:c.1426-78T>C:p.(=) pathogenicity:0.0 [0/1]; 11:6636900G>C NM_000391.3:c.1146-107C>G:p.(=) pathogenicity:0.0 [0/1]; 11:6637518A>G NM_000391.3:c.1075+28T>C:p.(=) pathogenicity:0.0 [1/1]; 11:6637739ATT>A NM_000391.3:c.887-7_887-6del:p.? pathogenicity:0.0 [0/1]; 11:6638385C>T NM_000391.3:c.509-1G>A:p.? pathogenicity:1.0 [0/1]; 11:6638506A>T NM_000391.3:c.508+26T>A:p.(=) pathogenicity:0.0 [0/1]; 11:6639351T>C NM_000391.3:c.230-344A>G:p.(=) pathogenicity:0.0 [1/1]
24
+ 15 Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 OMIM:615228 1/8371 0.00% -4.924 NCBIGene:498 18:43652345A>G NM_024430.3:: pathogenicity:0.0 [1/1]; 18:43655239G>A NM_024430.3:: pathogenicity:0.0 [1/1]; 18:43656620T>A NM_024430.3:: pathogenicity:0.0 [./.]; 18:43661443C>T NM_001257334.1:: pathogenicity:0.0 [1/1]; 18:43661446C>G NM_001257334.1:: pathogenicity:0.0 [1/1]; 18:43664115T>C NM_001001935.2:c.*133A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43664801AAC>A NM_001001935.2:c.1280-183_1280-182del:p.(=) pathogenicity:0.0 [1/1]; 18:43665982C>T NM_001001935.2:c.1279+97G>A:p.(=) pathogenicity:0.0 [1/1]; 18:43666280TAGTTAATATATTAATACCTTAAGA>T NM_001001935.2:c.1134+49_1135-58del:p.(=) pathogenicity:0.0 [1/1]; 18:43666774T>C NM_001001935.2:c.1026+200A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43666786C>T NM_001001935.2:c.1026+188G>A:p.(=) pathogenicity:0.0 [1/1]; 18:43666861T>C NM_001001935.2:c.1026+113A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43666952C>A NM_001001935.2:c.1026+22G>T:p.(=) pathogenicity:0.0 [1/1]; 18:43667528T>C NM_001001935.2:c.650-70A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43668321G>T NM_001001935.2:c.501-98C>A:p.(=) pathogenicity:0.0 [1/1]; 18:43669980T>C NM_001001935.2:c.160-18A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43674879A>T NM_001001937.1:c.139+140T>A:p.(=) pathogenicity:0.0 [0/1]; 18:43675364T>C NM_001001937.1:c.61-267A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43678024G>A NM_001001937.1:c.60+114C>T:p.(=) pathogenicity:0.0 [1/1]; 18:43678035T>C NM_001001937.1:c.60+103A>G:p.(=) pathogenicity:0.0 [1/1]; 18:43678328ACC>A XM_005258282.1:c.34_35del:p.(G12fs) pathogenicity:1.0 [1/1]; 18:43678333CTCT>C XM_005258282.1:c.28_30del:p.(R10del) pathogenicity:0.0 [1/1]; 18:43678336T>C XM_005258282.1:c.28A>G:p.(R10G) pathogenicity:0.0 [0/1]; 18:43678706C>T NM_001001937.1:c.-48-461G>A:p.(=) pathogenicity:0.0 [1/1]
25
+ 16 Neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM:619797 1/8371 0.00% -4.994 NCBIGene:9759 2:239849183T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239849200A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239850235C>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239850444A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239854543GAAGAA>G NR_034162.1:: pathogenicity:0.0 [./.]; 2:239854550TGAACC>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239862093A>G NR_034162.1:: pathogenicity:0.0 [./.]; 2:239864510C>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239864519G>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239865546C>T NR_034162.1:: pathogenicity:0.0 [0/1]; 2:239871408T>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239876891G>C NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239888961C>CA NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239889955T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239892918C>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239910013G>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239915134G>GGAAA NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239919408G>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239919412G>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239928243T>TTCTC NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239935135T>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239935144C>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239935441A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239937343C>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239937344A>G NR_034162.1:: pathogenicity:0.0 [./.]; 2:239937683C>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239937689A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239937948T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239947653C>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239949455T>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239951235G>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239953723T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239959350AC>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239960133CGGGGCGGCTGGCCAGGCGGGGGCTGCCCCCCACCTCCCAGAT>C NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239960194G>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239961625C>CACAT NR_034162.1:: pathogenicity:0.0 [./.]; 2:239962156T>C NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239976597C>T NM_006037.3:c.2989-68G>A:p.(=) pathogenicity:0.0 [0/1]; 2:240003870G>A NM_006037.3:c.2565C>T:p.(=) pathogenicity:0.0 [0/1]; 2:240015784T>C NM_006037.3:c.2265+922A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240016488A>G NM_006037.3:c.2265+218T>C:p.(=) pathogenicity:0.0 [0/1]; 2:240020717T>G NM_006037.3:c.2218+3755A>C:p.(=) pathogenicity:0.0 [1/1]; 2:240028660T>C NM_006037.3:c.2097+1086A>G:p.(=) pathogenicity:0.0 [./.]; 2:240028669T>C NM_006037.3:c.2097+1077A>G:p.(=) pathogenicity:0.0 [./.]; 2:240029736T>C NM_006037.3:c.2097+10A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240032319G>A NM_006037.3:c.1963+903C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240033685T>C NM_006037.3:c.1777-277A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240039119C>A NM_006037.3:c.1519-2113G>T:p.(=) pathogenicity:0.0 [1/1]; 2:240041048G>A NM_006037.3:c.1519-4042C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240041184A>G NM_006037.3:c.1519-4178T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240048027C>T NM_006037.3:c.1518+125G>A:p.(=) pathogenicity:0.0 [0/1]; 2:240055901G>A NM_006037.3:c.1294+40C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240061400C>T NM_006037.3:c.958G>A:p.(V320I) pathogenicity:0.9 [0/1]; 2:240063802G>T NM_006037.3:c.866-2310C>A:p.(=) pathogenicity:0.0 [./.]; 2:240065919T>C NM_006037.3:c.865+360A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240066417A>G NM_006037.3:c.734-7T>C:p.? pathogenicity:0.0 [1/1]; 2:240066526T>C NM_006037.3:c.734-116A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240067229G>A NM_006037.3:c.734-819C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240067231C>T NM_006037.3:c.734-821G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240067704A>G NM_006037.3:c.734-1294T>C:p.(=) pathogenicity:0.0 [./.]; 2:240069503C>A NM_006037.3:c.734-3093G>T:p.(=) pathogenicity:0.0 [./.]; 2:240070419A>G NM_006037.3:c.734-4009T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240074584A>G NM_006037.3:c.733+3764T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240084785T>TC NM_006037.3:c.611+713_611+714insG:p.(=) pathogenicity:0.0 [1/1]; 2:240085403C>A NM_006037.3:c.611+96G>T:p.(=) pathogenicity:0.0 [1/1]; 2:240088475G>A NM_006037.3:c.491-2856C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240092739G>A NM_006037.3:c.490+5370C>T:p.(=) pathogenicity:0.0 [./.]; 2:240092865CAAA>C NM_006037.3:c.490+5241_490+5243del:p.(=) pathogenicity:0.0 [1/1]; 2:240100263T>C NM_006037.3:c.340-2004A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240102871C>T NM_006037.3:c.340-4612G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240110777G>A NM_006037.3:c.339+752C>T:p.(=) pathogenicity:0.0 [./.]; 2:240111870CG>C NM_006037.3:c.95-98del:p.(=) pathogenicity:0.0 [0/1]; 2:240112972G>A NM_006037.3:c.95-1199C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240113365T>C NM_006037.3:c.95-1592A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240113374T>C NM_006037.3:c.95-1601A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240113394T>C NM_006037.3:c.95-1621A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240113436C>T NM_006037.3:c.95-1663G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240115701G>A NM_006037.3:c.95-3928C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240116841A>G NM_006037.3:c.95-5068T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240127416G>A NM_006037.3:c.95-15643C>T:p.(=) pathogenicity:0.0 [./.]; 2:240137886TTA>T NM_006037.3:c.94+20401_94+20402del:p.(=) pathogenicity:0.0 [1/1]; 2:240143872C>T NM_006037.3:c.94+14417G>A:p.(=) pathogenicity:0.0 [./.]; 2:240144903G>A NM_006037.3:c.94+13386C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240144958C>A NM_006037.3:c.94+13331G>T:p.(=) pathogenicity:0.0 [1/1]; 2:240147224G>T NM_006037.3:c.94+11065C>A:p.(=) pathogenicity:0.0 [0/0]; 2:240148361T>TGGG NM_006037.3:c.94+9927_94+9928insCCC:p.(=) pathogenicity:0.0 [./.]; 2:240151759C>T NM_006037.3:c.94+6530G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240153158C>CG NM_006037.3:c.94+5130_94+5131insC:p.(=) pathogenicity:0.0 [./.]; 2:240153159A>G NM_006037.3:c.94+5130T>C:p.(=) pathogenicity:0.0 [./.]; 2:240176498T>A NM_006037.3:c.23-18138A>T:p.(=) pathogenicity:0.0 [1/1]; 2:240190926T>C NM_006037.3:c.23-32566A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240198239A>C NM_006037.3:c.23-39879T>G:p.(=) pathogenicity:0.0 [1/1]; 2:240215819A>G NM_006037.3:c.23-57459T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240215984G>GTCCC NM_006037.3:c.23-57625_23-57624insGGGA:p.(=) pathogenicity:0.0 [1/1]; 2:240230131CAG>C NM_006037.3:c.22+44240_22+44241del:p.(=) pathogenicity:0.0 [./.]; 2:240241121C>T NM_006037.3:c.22+33252G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240304863C>G NM_006037.3:c.-220+17208G>C:p.(=) pathogenicity:0.0 [1/1]; 2:240307801A>G NM_006037.3:c.-220+14270T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240321793C>T NM_006037.3:c.-220+278G>A:p.(=) pathogenicity:0.0 [1/1]
26
+ 17 Epileptic encephalopathy, early infantile, 68 OMIM:618201 1/8371 0.00% -5.016 NCBIGene:22906 3:42069490A>C XM_005264959.1:c.-519+13881A>C:p.(=) pathogenicity:0.0 [./.]; 3:42084422A>AC XM_005264959.1:c.-519+28813_-519+28814insC:p.(=) pathogenicity:0.0 [./.]; 3:42105675A>G XM_005264959.1:c.-518-22921A>G:p.(=) pathogenicity:0.0 [1/1]; 3:42115781A>G XM_005264959.1:c.-518-12815A>G:p.(=) pathogenicity:0.0 [./.]; 3:42117484C>A XM_005264959.1:c.-518-11112C>A:p.(=) pathogenicity:0.0 [1/1]; 3:42121629G>A XM_005264959.1:c.-518-6967G>A:p.(=) pathogenicity:0.0 [./.]; 3:42124035C>T XM_005264959.1:c.-518-4561C>T:p.(=) pathogenicity:0.0 [1/1]; 3:42124365C>T XM_005264959.1:c.-518-4231C>T:p.(=) pathogenicity:0.0 [1/1]; 3:42133149C>G NM_001042646.2:c.91+97C>G:p.(=) pathogenicity:0.0 [1/1]; 3:42136009T>C NM_001042646.2:c.91+2957T>C:p.(=) pathogenicity:0.0 [./.]; 3:42144981C>T NM_001042646.2:c.91+11929C>T:p.(=) pathogenicity:0.0 [1/1]; 3:42148299A>G NM_001042646.2:c.91+15247A>G:p.(=) pathogenicity:0.0 [1/1]; 3:42185509G>T NM_001042646.2:c.286+18403G>T:p.(=) pathogenicity:0.0 [0/0]; 3:42185562G>A NM_001042646.2:c.286+18456G>A:p.(=) pathogenicity:0.0 [0/0]; 3:42201759G>A NM_001042646.2:c.287-16547G>A:p.(=) pathogenicity:0.0 [0/1]; 3:42202061G>T NM_001042646.2:c.287-16245G>T:p.(=) pathogenicity:0.0 [1/1]; 3:42203993A>G NM_001042646.2:c.287-14313A>G:p.(=) pathogenicity:0.0 [1/1]; 3:42207539T>C NM_001042646.2:c.287-10767T>C:p.(=) pathogenicity:0.0 [1/1]; 3:42219452T>C NM_001042646.2:c.363+1070T>C:p.(=) pathogenicity:0.0 [1/1]; 3:42219684AGGC>A NM_001042646.2:c.363+1303_363+1305del:p.(=) pathogenicity:0.0 [1/1]; 3:42226151T>C NM_001042646.2:c.364-26T>C:p.(=) pathogenicity:0.0 [1/1]; 3:42226438C>G NM_001042646.2:c.480+145C>G:p.(=) pathogenicity:0.0 [1/1]; 3:42229296G>A NM_001042646.2:c.481-241G>A:p.(=) pathogenicity:0.0 [1/1]; 3:42232837G>A NM_001042646.2:c.691-213G>A:p.(=) pathogenicity:0.0 [1/1]; 3:42234758C>A NM_001042646.2:c.900+61C>A:p.(=) pathogenicity:0.0 [0/1]; 3:42235280TATCTTAGGAAGTG>T NM_001042646.2:c.901-35_901-23del:p.(=) pathogenicity:0.0 [0/1]; 3:42236415A>G NM_001042646.2:c.1095A>G:p.(=) pathogenicity:0.0 [1/1]; 3:42241661A>C NM_001042646.2:c.1191-649A>C:p.(=) pathogenicity:0.0 [1/1]; 3:42249636G>A NM_001042646.2:c.1745-1623G>A:p.(=) pathogenicity:0.0 [1/1]; 3:42251263C>T NM_001042646.2:c.1749C>T:p.(=) pathogenicity:0.0 [1/1]; 3:42251329C>T NM_001042646.2:c.1815C>T:p.(=) pathogenicity:0.0 [0/1]; 3:42251498G>C NM_001265608.1:c.1984G>C:p.(V662L) pathogenicity:0.9 [0/1]; 3:42264393A>G NM_001042646.2:c.2067-41A>G:p.(=) pathogenicity:0.0 [0/1]; 3:42264422T>C NM_001042646.2:c.2067-12T>C:p.(=) pathogenicity:0.0 [0/1]; 3:42265270TCTC>T NM_001042646.2:c.*45_*47del:p.(=) pathogenicity:0.0 [0/1]; 3:42265369C>T NM_001042646.2:c.*140C>T:p.(=) pathogenicity:0.0 [0/1]; 3:42265634C>T NM_001042646.2:c.*405C>T:p.(=) pathogenicity:0.0 [0/1]; 3:42266346A>G NM_001042646.2:c.*1117A>G:p.(=) pathogenicity:0.0 [0/1]; 3:42266349C>T NM_001042646.2:c.*1120C>T:p.(=) pathogenicity:0.0 [0/1]; 3:42266360T>C NM_001042646.2:c.*1131T>C:p.(=) pathogenicity:0.0 [0/1]; 3:42266621T>C NM_001042646.2:c.*1392T>C:p.(=) pathogenicity:0.0 [1/1]; 3:42266833C>A NM_001042646.2:c.*1604C>A:p.(=) pathogenicity:0.0 [0/1]; 3:42299220G>T XM_005265527.1:: pathogenicity:0.0 [0/0]
27
+ 18 Microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 1/8371 0.00% -5.099 NCBIGene:85378 22:50656096A>G XM_005261939.1:: pathogenicity:0.0 [1/1]; 22:50657010C>G XM_005261954.1:c.4837G>C:p.(V1613L) pathogenicity:0.0 [1/1]; 22:50657112C>T NM_020461.3:c.4821+20G>A:p.(=) pathogenicity:0.0 [0/1]; 22:50658053A>G NM_020461.3:c.4315+20T>C:p.(=) pathogenicity:0.0 [1/1]; 22:50658274C>G NM_020461.3:c.4168-54G>C:p.(=) pathogenicity:0.0 [0/1]; 22:50658424T>C NM_020461.3:c.4129A>G:p.(T1377A) pathogenicity:0.0 [0/1]; 22:50658501A>G NM_020461.3:c.4109-57T>C:p.(=) pathogenicity:0.0 [0/1]; 22:50658570A>G NM_020461.3:c.4108+110T>C:p.(=) pathogenicity:0.0 [0/1]; 22:50664612A>G NM_020461.3:c.1700T>C:p.(L567S) pathogenicity:0.0 [1/1]; 22:50666223G>A NM_020461.3:c.1412+113C>T:p.(=) pathogenicity:0.0 [0/1]; 22:50672479A>G NM_020461.3:c.906-524T>C:p.(=) pathogenicity:0.0 [1/1]; 22:50672877T>C NM_020461.3:c.906-922A>G:p.(=) pathogenicity:0.0 [1/1]; 22:50676566A>AAG NM_020461.3:c.905+2066_905+2067insCT:p.(=) pathogenicity:0.0 [1/1]; 22:50678571T>C NM_020461.3:c.905+62A>G:p.(=) pathogenicity:0.0 [0/1]; 22:50682064G>A NM_020461.3:c.741+84C>T:p.(=) pathogenicity:0.0 [1/1]; 22:50682067G>A NM_020461.3:c.741+81C>T:p.(=) pathogenicity:0.0 [1/1]; 22:50682446T>C NM_020461.3:c.443A>G:p.(Y148C) pathogenicity:1.0 [0/1]; 22:50682865G>A NM_020461.3:c.24C>T:p.(=) pathogenicity:0.0 [0/1]; 22:50683032A>AT NM_020461.3:c.-145dup:p.(=) pathogenicity:0.0 [0/1]
28
+ 19 Dystonia 24 OMIM:615034 1/8371 0.00% -5.229 NCBIGene:63982 11:25110148T>C NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25116395CAAAAA>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25129580C>T NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25137818AG>A NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25162545C>T NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25168602C>T NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25168607CA>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25178402A>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25180965A>G NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25185208C>T NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25185247G>A NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25192541T>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25194323C>G NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25195026C>T NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25243463G>A NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25281943G>A NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25297323T>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25316492C>T NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25319731G>A NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25322019CTTTT>C NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25323707T>A NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25326229T>TAG NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25336459A>G NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25336649G>C NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25341240CT>C NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25355933C>CAG NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25360592C>T NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25370782A>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25382530A>G NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25394403A>G NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25394425A>G NM_001252010.1:: pathogenicity:0.0 [./.]; 11:25394751C>T NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25404830T>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25404880A>C NM_001252010.1:: pathogenicity:0.0 [1/1]; 11:25404929A>ACTT NM_001252010.1:: pathogenicity:0.0 [1/1]; 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11:26619549A>G NM_031418.2:c.1448-363A>G:p.(=) pathogenicity:0.0 [1/1]; 11:26624297CA>C NM_031418.2:c.1836+3037del:p.(=) pathogenicity:0.0 [1/1]; 11:26645894A>T NM_031418.2:c.1837-115A>T:p.(=) pathogenicity:0.0 [0/1]; 11:26655627CA>C NM_031418.2:c.1874-123del:p.(=) pathogenicity:0.0 [1/1]; 11:26661107A>G NM_031418.2:c.2141+319A>G:p.(=) pathogenicity:0.0 [0/1]; 11:26664190A>G NM_031418.2:c.2276-539A>G:p.(=) pathogenicity:0.0 [1/1]; 11:26664241C>T NM_031418.2:c.2276-488C>T:p.(=) pathogenicity:0.0 [1/1]; 11:26683500T>C NM_031418.2:c.*1509T>C:p.(=) pathogenicity:0.0 [0/1]
29
+ 20 Dworschak-Punetha neurodevelopmental syndrome OMIM:619955 1/8371 0.00% -5.232 NCBIGene:5361 3:126682205C>CA NM_032343.2:: pathogenicity:0.0 [1/1]; 3:126684898A>C NM_032242.3:: pathogenicity:0.0 [./.]; 3:126706800C>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126707376T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126708453T>C NM_032242.3:c.1017T>C:p.(=) pathogenicity:0.0 [1/1]; 3:126709863T>C NM_032242.3:c.1195-364T>C:p.(=) pathogenicity:0.0 [1/1]; 3:126713999G>A NM_032242.3:c.1377+3590G>A:p.(=) pathogenicity:0.0 [1/1]; 3:126715803C>A NM_032242.3:c.1377+5394C>A:p.(=) pathogenicity:0.0 [./.]; 3:126723373G>T NM_032242.3:c.1519-81G>T:p.(=) pathogenicity:0.0 [0/1]; 3:126723374C>T NM_032242.3:c.1519-80C>T:p.(=) pathogenicity:0.0 [0/1]; 3:126724151G>A NM_032242.3:c.1897+65G>A:p.(=) pathogenicity:0.0 [0/1]; 3:126726705A>G NM_032242.3:c.2061A>G:p.(=) pathogenicity:0.0 [0/1]; 3:126729263C>T NM_032242.3:c.2113-1538C>T:p.(=) pathogenicity:0.0 [1/1]; 3:126730873G>A NM_032242.3:c.2185G>A:p.(A729T) pathogenicity:1.0 [0/1]; 3:126733053C>T NM_032242.3:c.2439C>T:p.(=) pathogenicity:0.0 [0/1]; 3:126739291T>C NM_032242.3:c.4038+104T>C:p.(=) pathogenicity:0.0 [1/1]; 3:126741108G>A NM_032242.3:c.4219G>A:p.(V1407M) pathogenicity:1.0 [0/1]; 3:126742581A>G NM_032242.3:c.4362+920A>G:p.(=) pathogenicity:0.0 [./.]; 3:126746690A>G NM_032242.3:c.4363-93A>G:p.(=) pathogenicity:0.0 [1/1]; 3:126746731T>G NM_032242.3:c.4363-52T>G:p.(=) pathogenicity:0.0 [1/1]; 3:126747190G>A NM_032242.3:c.4669+7G>A:p.? pathogenicity:0.4 [0/1]; 3:126747367T>C NM_032242.3:c.4669+184T>C:p.(=) pathogenicity:0.0 [1/1]; 3:126747633G>A NM_032242.3:c.4670-203G>A:p.(=) pathogenicity:0.0 [1/1]; 3:126748151T>C NM_032242.3:c.4774-132T>C:p.(=) pathogenicity:0.0 [1/1]; 3:126748688A>G NM_032242.3:c.4871-29A>G:p.(=) pathogenicity:0.0 [0/1]; 3:126751478C>T NM_032242.3:c.5444+36C>T:p.(=) pathogenicity:0.0 [1/1]; 3:126751689G>A NM_032242.3:c.5595+10G>A:p.(=) pathogenicity:0.0 [1/1]; 3:126752969C>A NM_032242.3:c.*109C>A:p.(=) pathogenicity:0.0 [0/1]; 3:126753195G>A NM_032242.3:c.*335G>A:p.(=) pathogenicity:0.0 [0/1]; 3:126753508G>GC NM_032242.3:c.*652dup:p.(=) pathogenicity:0.0 [0/1]; 3:126753566C>T NM_032242.3:c.*706C>T:p.(=) pathogenicity:0.0 [0/1]; 3:126753653G>A NM_032242.3:c.*793G>A:p.(=) pathogenicity:0.0 [0/1]; 3:126753834T>G NM_032242.3:c.*974T>G:p.(=) pathogenicity:0.0 [0/1]; 3:126754644G>C NM_032242.3:c.*1784G>C:p.(=) pathogenicity:0.0 [1/1]; 3:126754746C>T NM_032242.3:c.*1886C>T:p.(=) pathogenicity:0.0 [0/1]; 3:126755552T>C NM_032242.3:c.*2692T>C:p.(=) pathogenicity:0.0 [0/1]; 3:126756275C>T NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126756304G>T NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126771417A>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126783267A>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126789225G>A NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126794362C>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126801956T>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126813954T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126819635T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126823115A>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126823121C>T NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126824251A>G NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126824354G>T NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126825686G>A NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126825918T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126826956G>C NM_032242.3:: pathogenicity:0.0 [./.]; 3:126838838G>T NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126838848G>T NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126868547T>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126868879A>G NM_032242.3:: pathogenicity:0.0 [./.]; 3:126870738G>A NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126870844T>A NM_032242.3:: pathogenicity:0.0 [0/1]; 3:126870851TTAAAAAA>T NM_032242.3:: pathogenicity:0.0 [0/1]; 3:126871475A>G NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126872209T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126874166T>TTG NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126880488T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126887306T>C NM_032242.3:: pathogenicity:0.0 [./.]; 3:126893716A>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126896547G>A NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126899748T>C NM_032242.3:: pathogenicity:0.0 [1/1]; 3:126904293C>T NM_032242.3:: pathogenicity:0.0 [1/1]
30
+ 21 Factor V and factor VIII, combined deficiency of OMIM:613625 1/8371 0.00% -5.323 NCBIGene:90411 2:47086617G>T NR_024452.1:: pathogenicity:0.0 [1/1]; 2:47090944T>C NR_024452.1:: pathogenicity:0.0 [1/1]; 2:47091785A>G NR_024452.1:: pathogenicity:0.0 [./.]; 2:47094449C>G NR_024452.1:: pathogenicity:0.0 [1/1]; 2:47100999T>C NR_024452.1:: pathogenicity:0.0 [1/1]; 2:47105359C>CCA NR_024452.1:: pathogenicity:0.0 [./.]; 2:47115200A>G NR_024452.1:: pathogenicity:0.0 [0/1]; 2:47132627G>A NM_001171506.2:c.416C>T:p.(A139V) pathogenicity:1.0 [0/1]; 2:47140531AAG>A NM_001171511.2:c.93-5425_93-5424del:p.(=) pathogenicity:0.0 [1/1]; 2:47142950GCCCC>G NM_001171511.2:c.93-7846_93-7843del:p.(=) pathogenicity:0.0 [1/1]
31
+ 22 Robinow syndrome, autosomal dominant 3 OMIM:616894 1/8371 0.00% -5.395 NCBIGene:1857 3:183876512A>C NM_004423.3:c.161+2928A>C:p.(=) pathogenicity:0.0 [1/1]; 3:183882962C>G NM_004423.3:c.661C>G:p.(R221G) pathogenicity:1.0 [0/1]; 3:183884550T>C NM_004423.3:c.1049-64T>C:p.(=) pathogenicity:0.0 [0/1]; 3:183889337A>T XM_005247172.1:c.2126-18A>T:p.(=) pathogenicity:0.0 [0/1]; 3:183890097G>A NM_004423.3:c.*1554G>A:p.(=) pathogenicity:0.0 [0/1]
32
+ 23 Ventricular tachycardia, catecholaminergic polymorphic, 2 OMIM:611938 1/8371 0.00% -5.736 NCBIGene:845 1:116242737CAT>C NM_001232.3:c.*1123_*1124del:p.(=) pathogenicity:0.0 [0/1]; 1:116242844AT>A NM_001232.3:c.*1017del:p.(=) pathogenicity:0.0 [0/1]; 1:116243230C>G NM_001232.3:c.*632G>C:p.(=) pathogenicity:0.0 [1/1]; 1:116243380G>A NM_001232.3:c.*482C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116243877G>A NM_001232.3:c.1185C>T:p.(=) pathogenicity:0.0 [0/1]; 1:116245809C>T NM_001232.3:c.940-193G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116247466C>T NM_001232.3:c.939+347G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116247535G>C NM_001232.3:c.939+278C>G:p.(=) pathogenicity:0.0 [1/1]; 1:116247545C>T NM_001232.3:c.939+268G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116247557C>G NM_001232.3:c.939+256G>C:p.(=) pathogenicity:0.0 [./.]; 1:116247623C>T NM_001232.3:c.939+190G>A:p.(=) pathogenicity:0.0 [./.]; 1:116247790G>A NM_001232.3:c.939+23C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116247826T>C NM_001232.3:c.926A>G:p.(D309G) pathogenicity:1.0 [0/1]; 1:116254213G>GGT NM_001232.3:c.838+6247_838+6248insAC:p.(=) pathogenicity:0.0 [1/1]; 1:116254214A>T NM_001232.3:c.838+6247T>A:p.(=) pathogenicity:0.0 [1/1]; 1:116257891C>T NM_001232.3:c.838+2570G>A:p.(=) pathogenicity:0.0 [./.]; 1:116260066C>G NM_001232.3:c.838+395G>C:p.(=) pathogenicity:0.0 [./.]; 1:116260532A>T NM_001232.3:c.784-17T>A:p.(=) pathogenicity:0.0 [1/1]; 1:116260544C>T NM_001232.3:c.784-29G>A:p.(=) pathogenicity:0.0 [0/1]; 1:116260604G>A NM_001232.3:c.784-89C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116268283C>T NM_001232.3:c.738-109G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116268699A>G NM_001232.3:c.738-525T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116278503C>A NM_001232.3:c.532+2342G>T:p.(=) pathogenicity:0.0 [./.]; 1:116280144G>A NM_001232.3:c.532+701C>T:p.(=) pathogenicity:0.0 [./.]; 1:116281902T>TTGG NM_001232.3:c.421-947_421-946insCCA:p.(=) pathogenicity:0.0 [1/1]; 1:116281904A>T NM_001232.3:c.421-948T>A:p.(=) pathogenicity:0.0 [1/1]; 1:116281910GTAT>G NM_001232.3:c.421-957_421-955del:p.(=) pathogenicity:0.0 [1/1]; 1:116283343A>G NM_001232.3:c.420+6T>C:p.? pathogenicity:0.0 [1/1]; 1:116283526G>A NM_001232.3:c.320-77C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116283849A>G NM_001232.3:c.320-400T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116283921T>C NM_001232.3:c.320-472A>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284135A>C NM_001232.3:c.320-686T>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284547G>C NM_001232.3:c.320-1098C>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284557A>C NM_001232.3:c.320-1108T>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284575G>A NM_001232.3:c.320-1126C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116284602G>A NM_001232.3:c.320-1153C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116284606A>G NM_001232.3:c.320-1157T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116284726G>T NM_001232.3:c.320-1277C>A:p.(=) pathogenicity:0.0 [1/1]; 1:116285449T>G NM_001232.3:c.319+2000A>C:p.(=) pathogenicity:0.0 [1/1]; 1:116285853T>TATTC NM_001232.3:c.319+1595_319+1596insGAAT:p.(=) pathogenicity:0.0 [1/1]; 1:116285906T>G NM_001232.3:c.319+1543A>C:p.(=) pathogenicity:0.0 [1/1]; 1:116287305C>T NM_001232.3:c.319+144G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116287634A>G NM_001232.3:c.235-101T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116287651G>A NM_001232.3:c.235-118C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116289164A>G NM_001232.3:c.235-1631T>C:p.(=) pathogenicity:0.0 [./.]; 1:116292355G>A NM_001232.3:c.235-4822C>T:p.(=) pathogenicity:0.0 [./.]; 1:116292369T>C NM_001232.3:c.235-4836A>G:p.(=) pathogenicity:0.0 [./.]; 1:116292387C>T NM_001232.3:c.235-4854G>A:p.(=) pathogenicity:0.0 [./.]; 1:116292402A>G NM_001232.3:c.235-4869T>C:p.(=) pathogenicity:0.0 [./.]; 1:116293111A>C NM_001232.3:c.235-5578T>G:p.(=) pathogenicity:0.0 [1/1]; 1:116310818G>C NM_001232.3:c.234+111C>G:p.(=) pathogenicity:0.0 [./.]; 1:116310967T>C NM_001232.3:c.196A>G:p.(T66A) pathogenicity:0.0 [0/1]; 1:116311198T>C NM_001232.3:c.-36A>G:p.(=) pathogenicity:0.0 [1/1]; 1:116311366G>GCACACACA NM_001232.3:c.-212_-205dup:p.(=) pathogenicity:0.0 [0/1]; 1:116315386C>CG NM_001232.3:: pathogenicity:0.0 [1/1]; 1:116315787T>C NM_001232.3:: pathogenicity:0.0 [1/1]; 1:116323181C>T NM_001111061.1:: pathogenicity:0.0 [./.]; 1:116340260A>G NM_001111061.1:: pathogenicity:0.0 [./.]
33
+ 24 Polyendocrine-Polyneuropathy syndrome OMIM:616113 1/8371 0.00% -5.857 NCBIGene:23312 15:51706015A>G NM_001174117.1:: pathogenicity:0.0 [1/1]; 15:51717067T>TA NM_001174117.1:: pathogenicity:0.0 [1/1]; 15:51741056G>A NM_001174116.1:c.*125C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51741579C>T NM_001174116.1:c.8905-189G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51745608CTG>C NM_001174116.1:c.8633+137_8633+138del:p.(=) pathogenicity:0.0 [1/1]; 15:51748146T>C NM_001174116.1:c.8463+117A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51748610A>G NM_001174116.1:c.8275-44T>C:p.(=) pathogenicity:0.0 [0/1]; 15:51749345C>G NM_001174116.1:c.8274+180G>C:p.(=) pathogenicity:0.0 [1/1]; 15:51749726A>C NM_001174116.1:c.8136-63T>G:p.(=) pathogenicity:0.0 [0/1]; 15:51750609C>T NM_001174116.1:c.8135+94G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51750652G>A NM_001174116.1:c.8135+51C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51750846G>A NM_001174116.1:c.8014-22C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51751091TAGCAGC>T NM_001174116.1:c.7927-105_7927-100del:p.(=) pathogenicity:0.0 [1/1]; 15:51751435T>G NM_001174116.1:c.7927-443A>C:p.(=) pathogenicity:0.0 [1/1]; 15:51757621G>A NM_001174116.1:c.7606+142C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51757826T>C NM_001174116.1:c.7543A>G:p.(M2515V) pathogenicity:1.0 [0/1]; 15:51758345CA>C NM_001174116.1:c.7520+35del:p.(=) pathogenicity:0.0 [1/1]; 15:51763249C>G NM_001174116.1:c.7392+171G>C:p.(=) pathogenicity:0.0 [1/1]; 15:51768755AT>A NM_001174116.1:c.6964+30del:p.(=) pathogenicity:0.0 [0/1]; 15:51770456AT>A NM_001174116.1:c.6833+11del:p.(=) pathogenicity:0.0 [1/1]; 15:51780722C>T NM_001174116.1:c.5051+23G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51783820T>C NM_001174116.1:c.4908A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51783981G>C NM_001174116.1:c.4784-37C>G:p.(=) pathogenicity:0.0 [0/1]; 15:51784689T>G NM_001174116.1:c.4784-745A>C:p.(=) pathogenicity:0.0 [1/1]; 15:51784694G>GT NM_001174116.1:c.4784-751_4784-750insA:p.(=) pathogenicity:0.0 [1/1]; 15:51791559A>G NM_001174116.1:c.3862T>C:p.(S1288P) pathogenicity:0.0 [0/1]; 15:51795172G>A NM_001174116.1:c.2823C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51829812G>A NM_001174116.1:c.1490C>T:p.(T497M) pathogenicity:0.0 [0/1]; 15:51829995T>C NM_001174116.1:c.1346-39A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51840194T>C NM_001174116.1:c.568-589A>G:p.(=) pathogenicity:0.0 [./.]; 15:51856190GA>G NM_001174116.1:c.500+131del:p.(=) pathogenicity:0.0 [0/1]; 15:51857220C>T NM_001174116.1:c.364+65G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51865334C>A NM_001174116.1:c.213+2919G>T:p.(=) pathogenicity:0.0 [./.]; 15:51865877T>C NM_001174116.1:c.213+2376A>G:p.(=) pathogenicity:0.0 [./.]; 15:51868373A>G NM_001174116.1:c.93T>C:p.(=) pathogenicity:0.0 [0/1]; 15:51891562G>C NM_001174116.1:c.87+23094C>G:p.(=) pathogenicity:0.0 [1/1]; 15:51905498C>T NM_001174116.1:c.87+9158G>A:p.(=) pathogenicity:0.0 [./.]; 15:51914662G>A NM_001174116.1:c.81C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51914716T>C NM_001174116.1:c.27A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51914778T>G NM_001174116.1:c.-36A>C:p.(=) pathogenicity:0.0 [0/1]; 15:51927562C>T XM_005254257.1:: pathogenicity:0.0 [1/1]; 15:51951245C>T XM_005254257.1:: pathogenicity:0.0 [./.]; 15:51961871C>A XM_005254257.1:: pathogenicity:0.0 [1/1]
34
+ 25 Neurodevelopmental disorder with impaired speech and hyperkinetic movements OMIM:618425 1/8371 0.00% -5.872 NCBIGene:7701 2:219505465G>A NM_001105537.2:c.4516C>T:p.(R1506W) pathogenicity:0.9 [0/1]; 2:219508372A>T NM_001105537.2:c.2867T>A:p.(L956H) pathogenicity:0.0 [1/1]; 2:219511730CAACAG>C NM_001105537.2:c.1274-664_1274-660del:p.(=) pathogenicity:0.0 [1/1]
35
+ 26 Apert syndrome OMIM:101200 1/8371 0.00% -6.114 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
36
+ 27 Craniometaphyseal dysplasia, autosomal recessive OMIM:218400 1/8371 0.00% -6.118 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
37
+ 28 Crouzon syndrome OMIM:123500 1/8371 0.00% -6.171 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
38
+ 29 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM:618087 1/8371 0.00% -6.207 NCBIGene:8913 17:48646346A>AGT NM_001256324.1:c.354+4_354+5insGT:p.? pathogenicity:0.8 [0/1]; 17:48646376T>TGTGTGTGTGGTG NM_001256324.1:c.354+34_354+35insGTGTGTGTGGTG:p.(=) pathogenicity:0.0 [0/1]; 17:48652806G>A NM_001256324.1:c.1141-98G>A:p.(=) pathogenicity:0.0 [0/1]; 17:48652875A>G NM_001256324.1:c.1141-29A>G:p.(=) pathogenicity:0.0 [0/1]; 17:48655493A>G NM_001256324.1:c.1925-56A>G:p.(=) pathogenicity:0.0 [0/1]; 17:48678325A>T NM_001256324.1:c.3792-87A>T:p.(=) pathogenicity:0.0 [1/1]; 17:48679099C>G NM_001256324.1:c.3915+564C>G:p.(=) pathogenicity:0.0 [./.]; 17:48680657T>C NM_001256324.1:c.4169+97T>C:p.(=) pathogenicity:0.0 [0/1]; 17:48680780T>A NM_001256324.1:c.4169+220T>A:p.(=) pathogenicity:0.0 [./.]; 17:48685019C>A NM_001256324.1:c.4513-169C>A:p.(=) pathogenicity:0.0 [0/0]; 17:48687430C>T NM_001256324.1:c.4705+2050C>T:p.(=) pathogenicity:0.0 [0/1]; 17:48692881C>T NM_001256324.1:c.4857+8C>T:p.? pathogenicity:0.0 [0/1]; 17:48693760G>C NM_001256324.1:c.4967+15G>C:p.(=) pathogenicity:0.0 [0/1]; 17:48696827T>A NM_001256324.1:c.5728-217T>A:p.(=) pathogenicity:0.0 [0/0]; 17:48697481A>G NM_001256324.1:c.5871+294A>G:p.(=) pathogenicity:0.0 [./.]; 17:48701697T>C NM_001256324.1:c.6041-24T>C:p.(=) pathogenicity:0.0 [0/1]; 17:48703752T>C NM_001256324.1:c.6585T>C:p.(=) pathogenicity:0.0 [0/1]
39
+ 30 Kabuki syndrome 1 OMIM:147920 1/8371 0.00% -6.227 NCBIGene:8085 12:49414367T>C NM_003482.3:c.*1196A>G:p.(=) pathogenicity:0.0 [0/1]; 12:49421179G>C NM_003482.3:c.14644-74C>G:p.(=) pathogenicity:0.0 [1/1]; 12:49427108G>A NM_003482.3:c.11380C>T:p.(P3794S) pathogenicity:0.9 [0/1]; 12:49439659C>T NM_003482.3:c.4741+44G>A:p.(=) pathogenicity:0.0 [1/1]
40
+ 31 Intellectual developmental disorder with autism and macrocephaly OMIM:615032 1/8371 0.00% -6.383 NCBIGene:57680 14:21859536T>C NM_001170629.1:c.7065+86A>G:p.(=) pathogenicity:0.0 [0/1]; 14:21860360G>A NM_001170629.1:c.6772-255C>T:p.(=) pathogenicity:0.0 [0/1]; 14:21860494T>C NM_001170629.1:c.6771+172A>G:p.(=) pathogenicity:0.0 [0/1]; 14:21861211C>A NM_001170629.1:c.6468+54G>T:p.(=) pathogenicity:0.0 [0/1]; 14:21863716C>T NM_001170629.1:c.5128-205G>A:p.(=) pathogenicity:0.0 [0/0]; 14:21864124C>A NM_001170629.1:c.5052-73G>T:p.(=) pathogenicity:0.0 [0/1]; 14:21869096G>C NM_001170629.1:c.4308C>G:p.(D1436E) pathogenicity:1.0 [0/1]; 14:21869705C>CT NM_001170629.1:c.4063-34_4063-33insA:p.(=) pathogenicity:0.0 [0/1]; 14:21871653C>T NM_001170629.1:c.3477G>A:p.(=) pathogenicity:0.0 [0/1]; 14:21871999T>G NM_001170629.1:c.3308-177A>C:p.(=) pathogenicity:0.0 [0/1]; 14:21874068G>C NM_001170629.1:c.2908-45C>G:p.(=) pathogenicity:0.0 [0/1]
41
+ 32 Febrile seizures, familial, 11 OMIM:614418 1/8371 0.00% -6.442 NCBIGene:57094 8:68272023G>A XM_005251134.1:: pathogenicity:0.0 [1/1]; 8:68311113CTT>C XM_005251134.1:: pathogenicity:0.0 [./.]; 8:68334782G>A NM_020361.4:c.1271C>T:p.(A424V) pathogenicity:1.0 [0/1]; 8:68347863ATG>A NM_020361.4:c.839-1390_839-1389del:p.(=) pathogenicity:0.0 [0/1]; 8:68348487A>G NM_020361.4:c.839-2012T>C:p.(=) pathogenicity:0.0 [1/1]; 8:68355456T>C NM_020361.4:c.839-8981A>G:p.(=) pathogenicity:0.0 [1/1]; 8:68421565A>G NM_020361.4:c.534+187T>C:p.(=) pathogenicity:0.0 [0/1]; 8:68421998T>C NM_020361.4:c.433-145A>G:p.(=) pathogenicity:0.0 [0/0]; 8:68462201T>C NM_020361.4:c.193-31919A>G:p.(=) pathogenicity:0.0 [./.]; 8:68462304A>G NM_020361.4:c.193-32022T>C:p.(=) pathogenicity:0.0 [./.]; 8:68474641A>G NM_020361.4:c.193-44359T>C:p.(=) pathogenicity:0.0 [1/1]; 8:68569931A>T NM_020361.4:c.117-33445T>A:p.(=) pathogenicity:0.0 [1/1]; 8:68603370C>T NM_020361.4:c.116+54879G>A:p.(=) pathogenicity:0.0 [./.]; 8:68662662A>G NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68698420T>A NM_020361.4:: pathogenicity:0.0 [./.]; 8:68725862G>A NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68725959A>G NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68728131T>TC NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68740862C>T NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68745786C>G NM_020361.4:: pathogenicity:0.0 [./.]; 8:68752448C>T NM_020361.4:: pathogenicity:0.0 [./.]; 8:68759522C>T NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68775817T>C NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68804242T>C NM_020361.4:: pathogenicity:0.0 [./.]; 8:68856803G>A NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68860423A>G XM_005251312.1:: pathogenicity:0.0 [1/1]
42
+ 33 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity OMIM:618890 1/8371 0.00% -6.451 NCBIGene:25930 3:47391588CTT>C XM_005265005.1:: pathogenicity:0.0 [1/1]; 3:47398225A>AATC XM_005265005.1:: pathogenicity:0.0 [1/1]; 3:47405456A>G XM_005265005.1:: pathogenicity:0.0 [./.]; 3:47431736C>A NM_015466.2:c.85-5897C>A:p.(=) pathogenicity:0.0 [1/1]; 3:47431743C>A NM_015466.2:c.85-5890C>A:p.(=) pathogenicity:0.0 [1/1]; 3:47431869GTCT>G NM_015466.2:c.85-5763_85-5761del:p.(=) pathogenicity:0.0 [./.]; 3:47437148G>A NM_015466.2:c.85-485G>A:p.(=) pathogenicity:0.0 [./.]; 3:47437449C>A NM_015466.2:c.85-184C>A:p.(=) pathogenicity:0.0 [1/1]; 3:47447673C>G NM_015466.2:c.546+137C>G:p.(=) pathogenicity:0.0 [1/1]; 3:47449058T>C NM_015466.2:c.987T>C:p.(=) pathogenicity:0.0 [1/1]; 3:47449580T>C NM_015466.2:c.1184+135T>C:p.(=) pathogenicity:0.0 [1/1]; 3:47451411C>T NM_015466.2:c.2130-7C>T:p.? pathogenicity:0.0 [0/1]; 3:47452087G>A NM_015466.2:c.2799G>A:p.(=) pathogenicity:0.0 [1/1]; 3:47452118G>A NM_015466.2:c.2830G>A:p.(A944T) pathogenicity:0.0 [0/1]; 3:47452311G>T NM_015466.2:c.3023G>T:p.(G1008V) pathogenicity:1.0 [0/1]; 3:47452786G>A NM_015466.2:c.3498G>A:p.(=) pathogenicity:0.0 [0/1]; 3:47453216G>A NM_015466.2:c.3888+40G>A:p.(=) pathogenicity:0.0 [0/1]; 3:47454399G>A NM_015466.2:c.4635G>A:p.(=) pathogenicity:0.0 [./1]; 3:47454399G>C NM_015466.2:c.4635G>C:p.(=) pathogenicity:0.0 [./1]; 3:47455086G>A NM_012235.2:: pathogenicity:0.0 [0/1]
43
+ 34 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 1/8371 0.00% -6.512 NCBIGene:4627 22:36663627C>T NM_001136540.1:: pathogenicity:0.0 [1/1]; 22:36664486T>C NM_001136540.1:: pathogenicity:0.0 [1/1]; 22:36672627G>A NM_002473.4:: pathogenicity:0.0 [1/1]; 22:36678118C>T NM_002473.4:c.*596G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36682618A>G NM_002473.4:c.5061+146T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36688178G>A NM_002473.4:c.4198C>T:p.(R1400W) pathogenicity:1.0 [0/1]; 22:36690026G>C NM_002473.4:c.3837+112C>G:p.(=) pathogenicity:0.0 [1/1]; 22:36690113G>A NM_002473.4:c.3837+25C>T:p.(=) pathogenicity:0.0 [1/1]; 22:36691607A>C NM_002473.4:c.3429T>G:p.(=) pathogenicity:0.0 [1/1]; 22:36693653G>A NM_002473.4:c.3101-593C>T:p.(=) pathogenicity:0.0 [./.]; 22:36693980T>A NM_002473.4:c.3101-920A>T:p.(=) pathogenicity:0.0 [1/1]; 22:36695173C>T NM_002473.4:c.2977-85G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36695247G>T NM_002473.4:c.2977-159C>A:p.(=) pathogenicity:0.0 [1/1]; 22:36695942C>T NM_002473.4:c.2976+231G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36700175A>G NM_002473.4:c.2256T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36702300C>T NM_002473.4:c.2037+160G>A:p.(=) pathogenicity:0.0 [./.]; 22:36705141A>AG NM_002473.4:c.1843+185_1843+186insC:p.(=) pathogenicity:0.0 [1/1]; 22:36705529A>G NM_002473.4:c.1729-88T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36705652G>A NM_002473.4:c.1729-211C>T:p.(=) pathogenicity:0.0 [./.]; 22:36708084C>T NM_002473.4:c.1728+10G>A:p.(=) pathogenicity:0.0 [0/1]; 22:36708338A>G NM_002473.4:c.1555-71T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36710047T>C NM_002473.4:c.1554+143A>G:p.(=) pathogenicity:0.0 [0/1]; 22:36710056A>G NM_002473.4:c.1554+134T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36710183T>C NM_002473.4:c.1554+7A>G:p.? pathogenicity:0.0 [0/1]; 22:36712387A>G NM_002473.4:c.1380+175T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36712472A>G NM_002473.4:c.1380+90T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36712810C>G NM_002473.4:c.1228-96G>C:p.(=) pathogenicity:0.0 [0/1]; 22:36713020C>T NM_002473.4:c.1228-306G>A:p.(=) pathogenicity:0.0 [./.]; 22:36715274A>G NM_002473.4:c.1108+311T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36715871AC>A NM_002473.4:c.1013-192del:p.(=) pathogenicity:0.0 [1/1]; 22:36716202C>CT NM_002473.4:c.1012+62_1012+63insA:p.(=) pathogenicity:0.0 [1/1]; 22:36716209G>A NM_002473.4:c.1012+56C>T:p.(=) pathogenicity:0.0 [1/1]; 22:36717001A>AT NM_002473.4:c.770-61_770-60insA:p.(=) pathogenicity:0.0 [0/0]; 22:36720424C>T NM_002473.4:c.613-1858G>A:p.(=) pathogenicity:0.0 [./.]; 22:36722534G>A NM_002473.4:c.612+79C>T:p.(=) pathogenicity:0.0 [1/1]; 22:36722838CG>C NM_002473.4:c.519-133del:p.(=) pathogenicity:0.0 [1/1]; 22:36723697T>G NM_002473.4:c.491-164A>C:p.(=) pathogenicity:0.0 [1/1]; 22:36737304C>A NM_002473.4:c.490+111G>T:p.(=) pathogenicity:0.0 [0/1]; 22:36741740G>C NM_002473.4:c.333+3209C>G:p.(=) pathogenicity:0.0 [./.]; 22:36743516G>A NM_002473.4:c.333+1433C>T:p.(=) pathogenicity:0.0 [./.]; 22:36744886GC>G NM_002473.4:c.333+62del:p.(=) pathogenicity:0.0 [1/1]; 22:36744888C>G NM_002473.4:c.333+61G>C:p.(=) pathogenicity:0.0 [1/1]; 22:36744890C>T NM_002473.4:c.333+59G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36748993A>G NM_002473.4:c.-19-3693T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36755498A>G NM_002473.4:c.-19-10198T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36791050T>C XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36793548C>T XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36804385T>TC XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36804389T>G XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36849581ATTAAC>A XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36851207C>T XM_005261508.1:: pathogenicity:0.0 [1/1]
44
+ 35 Seckel syndrome 1 OMIM:210600 1/8371 0.00% -6.573 NCBIGene:545 3:142168331C>T NM_001184.3:c.7875G>A:p.(=) pathogenicity:0.0 [1/1]; 3:142169199A>AG NM_001184.3:c.7762-756_7762-755insC:p.(=) pathogenicity:0.0 [0/1]; 3:142178144C>T NM_001184.3:c.7274G>A:p.(R2425Q) pathogenicity:0.0 [0/1]; 3:142181316C>CT NM_001184.3:c.7042-385_7042-384insA:p.(=) pathogenicity:0.0 [1/1]; 3:142184163TA>T NM_001184.3:c.6898-82del:p.(=) pathogenicity:0.0 [0/1]; 3:142188337A>C NM_001184.3:c.6394T>G:p.(Y2132D) pathogenicity:0.8 [0/1]; 3:142204634C>T NM_001184.3:c.6079-510G>A:p.(=) pathogenicity:0.0 [0/1]; 3:142204728C>T NM_001184.3:c.6079-604G>A:p.(=) pathogenicity:0.0 [1/1]; 3:142217537A>G NM_001184.3:c.5460T>C:p.(=) pathogenicity:0.0 [0/1]; 3:142217727CT>C NM_001184.3:c.5381-112del:p.(=) pathogenicity:0.0 [0/1]; 3:142221956A>G NM_001184.3:c.5288+248T>C:p.(=) pathogenicity:0.0 [1/1]; 3:142239055A>G NM_001184.3:c.4267-429T>C:p.(=) pathogenicity:0.0 [0/0]; 3:142241692G>GA NM_001184.3:c.4153-10_4153-9insT:p.(=) pathogenicity:0.0 [0/1]; 3:142255090T>C NM_001184.3:c.3726-47A>G:p.(=) pathogenicity:0.0 [0/1]; 3:142259706CA>C NM_001184.3:c.3581+39del:p.(=) pathogenicity:0.0 [0/1]; 3:142270950G>GT NM_001184.3:c.2805+1118_2805+1119insA:p.(=) pathogenicity:0.0 [./.]; 3:142272314G>A NM_001184.3:c.2634-74C>T:p.(=) pathogenicity:0.0 [0/1]; 3:142277423GATAA>G NM_001184.3:c.1885+39_1885+42del:p.(=) pathogenicity:0.0 [0/1]; 3:142277575A>T NM_001184.3:c.1776T>A:p.(=) pathogenicity:0.0 [0/1]; 3:142279796T>C NM_001184.3:c.1349+289A>G:p.(=) pathogenicity:0.0 [0/0]; 3:142281612A>G NM_001184.3:c.632T>C:p.(M211T) pathogenicity:0.0 [0/1]; 3:142304543T>C NM_001145319.1:: pathogenicity:0.0 [1/1]; 3:142315074G>A NM_001145319.1:: pathogenicity:0.0 [0/1]; 3:142315114C>A NM_001145319.1:: pathogenicity:0.0 [0/1]
45
+ 36 Raine syndrome OMIM:259775 1/8371 0.00% -6.639 NCBIGene:56975 7:170370T>G NM_020223.3:: pathogenicity:0.0 [./.]; 7:170889C>G NM_020223.3:: pathogenicity:0.0 [1/1]; 7:174656CT>C NM_020223.3:: pathogenicity:0.0 [./.]; 7:187673A>AGT NM_020223.3:: pathogenicity:0.0 [./.]; 7:190115G>A NM_020223.3:: pathogenicity:0.0 [1/1]; 7:197913C>A NM_020223.3:c.784+2181C>A:p.(=) pathogenicity:0.0 [1/1]; 7:197933G>C NM_020223.3:c.784+2201G>C:p.(=) pathogenicity:0.0 [1/1]; 7:198903C>T NM_020223.3:c.784+3171C>T:p.(=) pathogenicity:0.0 [1/1]; 7:200011G>A NM_020223.3:c.784+4279G>A:p.(=) pathogenicity:0.0 [1/1]; 7:207371T>G NM_020223.3:c.785-1527T>G:p.(=) pathogenicity:0.0 [1/1]; 7:207379T>C NM_020223.3:c.785-1519T>C:p.(=) pathogenicity:0.0 [1/1]; 7:212980GC>G NM_020223.3:c.863+4005del:p.(=) pathogenicity:0.0 [./.]; 7:216512A>C NM_020223.3:c.863+7536A>C:p.(=) pathogenicity:0.0 [1/1]; 7:216570A>G NM_020223.3:c.863+7594A>G:p.(=) pathogenicity:0.0 [1/1]; 7:220524G>T NM_020223.3:c.863+11548G>T:p.(=) pathogenicity:0.0 [./.]; 7:223988G>A NM_020223.3:c.863+15012G>A:p.(=) pathogenicity:0.0 [./.]; 7:285268TG>T NM_020223.3:c.864-1112del:p.(=) pathogenicity:0.0 [./.]; 7:286468G>GGACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGC NM_020223.3:c.957_958insTGAGCCCTTCCTTCCTCCCTCCATCCGCGACAGG:p.(I320*) pathogenicity:1.0 [1/1]; 7:286534A>G NM_020223.3:c.956+61A>G:p.(=) pathogenicity:0.0 [1/1]; 7:288102T>C NM_020223.3:c.957-179T>C:p.(=) pathogenicity:0.0 [1/1]; 7:288501G>C NM_020223.3:c.1072+105G>C:p.(=) pathogenicity:0.0 [1/1]; 7:288574T>C NM_020223.3:c.1072+178T>C:p.(=) pathogenicity:0.0 [1/1]; 7:289014ACT>A NM_020223.3:c.1072+619_1072+620del:p.(=) pathogenicity:0.0 [./.]; 7:295624C>A NM_020223.3:c.1073-191C>A:p.(=) pathogenicity:0.0 [1/1]; 7:295683T>TG NM_020223.3:c.1073-132_1073-131insG:p.(=) pathogenicity:0.0 [1/1]; 7:296557T>C NM_020223.3:c.1254-63T>C:p.(=) pathogenicity:0.0 [1/1]; 7:296739G>A NM_020223.3:c.1363+10G>A:p.(=) pathogenicity:0.0 [1/1]; 7:298807T>C NM_020223.3:c.1505+136T>C:p.(=) pathogenicity:0.0 [1/1]; 7:298911T>C NM_020223.3:c.1505+240T>C:p.(=) pathogenicity:0.0 [1/1]; 7:299558T>TTCTC NM_020223.3:c.1506-139_1506-138insTCTC:p.(=) pathogenicity:0.0 [1/1]; 7:299642G>A NM_020223.3:c.1506-55G>A:p.(=) pathogenicity:0.0 [0/1]; 7:299652A>G NM_020223.3:c.1506-45A>G:p.(=) pathogenicity:0.0 [0/1]; 7:299850G>T NM_020223.3:c.1659G>T:p.(=) pathogenicity:0.0 [0/1]; 7:299863C>T NM_020223.3:c.1672C>T:p.(R558W) pathogenicity:0.0 [0/1]; 7:299881A>G NM_020223.3:c.1690A>G:p.(N564D) pathogenicity:0.0 [0/1]; 7:299976G>A NM_020223.3:c.*30G>A:p.(=) pathogenicity:0.0 [0/1]; 7:299987C>G NM_020223.3:c.*41C>G:p.(=) pathogenicity:0.0 [1/1]; 7:300512G>A NM_020223.3:c.*566G>A:p.(=) pathogenicity:0.0 [0/1]; 7:300864G>T NM_020223.3:: pathogenicity:0.0 [0/1]
46
+ 37 Mental retardation, x-linked syndromic, Christianson type OMIM:300243 1/8371 0.00% -6.649 NCBIGene:10479 X:135056299G>A XM_005262496.1:: pathogenicity:0.0 [1/1]; X:135067675G>C NM_001042537.1:c.14G>C:p.(G5A) pathogenicity:1.0 [0/1]; X:135080623C>CT NM_001042537.1:c.604-18_604-17insT:p.(=) pathogenicity:0.0 [0/1]; X:135092383A>AC NM_001042537.1:c.900-218_900-217insC:p.(=) pathogenicity:0.0 [0/1]; X:135095656T>A NM_001042537.1:c.1236+60T>A:p.(=) pathogenicity:0.0 [0/1]; X:135148483T>C XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135154425A>AG XM_005262353.1:: pathogenicity:0.0 [./.]; X:135166923T>TTTTA XM_005262353.1:: pathogenicity:0.0 [./.]; X:135167565T>C XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135168810A>G XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135169707G>C XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135169757C>T XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135185684TTGTG>T XM_005262353.1:: pathogenicity:0.0 [./.]; X:135190794A>G XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135196681T>C XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135198691G>A XM_005262353.1:: pathogenicity:0.0 [./.]; X:135198976G>A XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135200714G>A XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135201047T>C XM_005262353.1:: pathogenicity:0.0 [./.]; X:135201508T>C XM_005262353.1:: pathogenicity:0.0 [./.]; X:135206823TA>T XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135220189T>C XM_005262353.1:: pathogenicity:0.0 [1/1]; X:135223071T>C XM_005262353.1:: pathogenicity:0.0 [1/1]
47
+ 38 Velocardiofacial syndrome OMIM:192430 1/8371 0.00% -6.7 NCBIGene:8220 22:19113015C>T NM_001173533.1:: pathogenicity:0.0 [0/1]; 22:19113028G>A NM_001173533.1:: pathogenicity:0.0 [0/1]; 22:19116351G>A NM_022719.2:: pathogenicity:0.0 [1/1]; 22:19117250A>G NM_022719.2:: pathogenicity:0.0 [0/1]; 22:19117267T>C NM_022719.2:: pathogenicity:0.0 [0/1]; 22:19119545C>T NM_053006.4:c.633C>T:p.(=) pathogenicity:0.0 [0/1]; 22:19119672C>A NM_053006.4:c.760C>A:p.(Q254K) pathogenicity:1.0 [1/1]; 22:19119938G>A NM_053006.4:c.1026G>A:p.(=) pathogenicity:0.0 [./.]; 22:19120867T>C NM_022719.2:c.*842A>G:p.(=) pathogenicity:0.0 [0/1]; 22:19120959C>A NM_022719.2:c.*750G>T:p.(=) pathogenicity:0.0 [0/1]; 22:19122665C>T NM_022719.2:c.1059G>A:p.(=) pathogenicity:0.0 [0/1]; 22:19125136G>A NM_022719.2:c.926-191C>T:p.(=) pathogenicity:0.0 [./.]; 22:19126631T>C NM_022719.2:c.822+41A>G:p.(=) pathogenicity:0.0 [0/1]; 22:19132061C>T NM_022719.2:c.93G>A:p.(=) pathogenicity:0.0 [0/1]; 22:19132325A>G NM_022719.2:: pathogenicity:0.0 [0/0]
48
+ 39 Dyskeratosis congenita, autosomal recessive 1 OMIM:224230 1/8371 0.00% -6.71 NCBIGene:55651 5:177580349A>T NM_001034833.1:c.230+143T>A:p.(=) pathogenicity:0.0 [0/1]; 5:177580532C>T NM_001034833.1:c.190G>A:p.(V64M) pathogenicity:1.0 [0/1]; 5:177581346G>T NM_017838.3:: pathogenicity:0.0 [./.]; 5:177591776G>A NM_017838.3:: pathogenicity:0.0 [0/1]; 5:177611377GA>G NR_003281.1:: pathogenicity:0.0 [0/1]
49
+ 40 Hyperammonemia due to carbonic anhydrase VA deficiency OMIM:615751 1/8371 0.00% -6.778 NCBIGene:763 16:87925430T>C NM_001739.1:c.749A>G:p.(E250G) pathogenicity:0.8 [0/1]; 16:87927380C>T NM_001739.1:c.619-1820G>A:p.(=) pathogenicity:0.0 [0/1]; 16:87947266CCTCCT>C NM_001739.1:c.341-8761_341-8757del:p.(=) pathogenicity:0.0 [0/1]; 16:87947540A>G NM_001739.1:c.341-9030T>C:p.(=) pathogenicity:0.0 [0/1]; 16:87947549T>C NM_001739.1:c.341-9039A>G:p.(=) pathogenicity:0.0 [1/1]; 16:87947973A>G NM_001739.1:c.341-9463T>C:p.(=) pathogenicity:0.0 [0/0]; 16:87958699C>G NM_001739.1:c.340+1655G>C:p.(=) pathogenicity:0.0 [0/1]; 16:87958752T>C NM_001739.1:c.340+1602A>G:p.(=) pathogenicity:0.0 [1/1]; 16:87960133G>A NM_001739.1:c.340+221C>T:p.(=) pathogenicity:0.0 [1/1]; 16:87960560A>T NM_001739.1:c.143-9T>A:p.(=) pathogenicity:0.0 [0/1]; 16:87963261G>A NM_001739.1:c.143-2710C>T:p.(=) pathogenicity:0.0 [./.]; 16:87963263G>A NM_001739.1:c.143-2712C>T:p.(=) pathogenicity:0.0 [./.]; 16:87976461C>T XM_005256011.1:: pathogenicity:0.0 [1/1]; 16:87976479A>G XM_005256011.1:: pathogenicity:0.0 [1/1]; 16:87979162G>A XM_005256011.1:: pathogenicity:0.0 [1/1]
50
+ 41 Diarrhea 8, secretory sodium, congenital OMIM:616868 1/8371 0.00% -6.805 NCBIGene:6550 5:473368G>A NM_004174.2:c.*126C>T:p.(=) pathogenicity:0.0 [0/1]; 5:474769CCT>C NM_004174.2:c.2501+227_2501+228del:p.(=) pathogenicity:0.0 [1/1]; 5:474870CCTGGAGGGAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGACAGCGCGCGCGAGGCGGAGACCT>C NM_004174.2:c.2501+56_2501+127del:p.(=) pathogenicity:0.0 [0/1]; 5:474875AGGGAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAG>A NM_004174.2:c.2501+52_2501+122del:p.(=) pathogenicity:0.0 [0/1]; 5:474974C>T NM_004174.2:c.2501+24G>A:p.(=) pathogenicity:0.0 [0/1]; 5:475104A>G NM_004174.2:c.2395T>C:p.(C799R) pathogenicity:0.0 [1/1]; 5:475346A>T NM_004174.2:c.2252-99T>A:p.(=) pathogenicity:0.0 [0/1]; 5:475408T>G NM_004174.2:c.2252-161A>C:p.(=) pathogenicity:0.0 [1/1]; 5:475463C>T NM_004174.2:c.2251+213G>A:p.(=) pathogenicity:0.0 [1/1]; 5:475621T>TG NM_004174.2:c.2251+54_2251+55insC:p.(=) pathogenicity:0.0 [0/1]; 5:475626C>G NM_004174.2:c.2251+50G>C:p.(=) pathogenicity:0.0 [0/1]; 5:476353C>T NM_004174.2:c.2031G>A:p.(=) pathogenicity:0.0 [0/1]; 5:476530C>G NM_004174.2:c.1891-37G>C:p.(=) pathogenicity:0.0 [1/1]; 5:476848C>T NM_004174.2:c.1761-61G>A:p.(=) pathogenicity:0.0 [0/1]; 5:476910T>C NM_004174.2:c.1761-123A>G:p.(=) pathogenicity:0.0 [1/1]; 5:477303A>G NM_004174.2:c.1760+144T>C:p.(=) pathogenicity:0.0 [0/1]; 5:477317C>T NM_004174.2:c.1760+130G>A:p.(=) pathogenicity:0.0 [0/1]; 5:477634G>A NM_004174.2:c.1648-75C>T:p.(=) pathogenicity:0.0 [0/1]; 5:477639G>A NM_004174.2:c.1648-80C>T:p.(=) pathogenicity:0.0 [0/1]; 5:477719A>G NM_004174.2:c.1648-160T>C:p.(=) pathogenicity:0.0 [1/1]; 5:478458T>C NM_004174.2:c.1648-899A>G:p.(=) pathogenicity:0.0 [1/1]; 5:478466T>C NM_004174.2:c.1648-907A>G:p.(=) pathogenicity:0.0 [1/1]; 5:478655G>A NM_004174.2:c.1648-1096C>T:p.(=) pathogenicity:0.0 [1/1]; 5:479746C>G NM_004174.2:c.1647+205G>C:p.(=) pathogenicity:0.0 [1/1]; 5:479879G>GC NM_004174.2:c.1647+71_1647+72insG:p.(=) pathogenicity:0.0 [1/1]; 5:479905A>C NM_004174.2:c.1647+46T>G:p.(=) pathogenicity:0.0 [1/1]; 5:480387AG>A NM_004174.2:c.1518-308del:p.(=) pathogenicity:0.0 [./.]; 5:481610T>C NM_004174.2:c.1517+70A>G:p.(=) pathogenicity:0.0 [1/1]; 5:482151GC>G NM_004174.2:c.1446+31del:p.(=) pathogenicity:0.0 [0/1]; 5:482162G>C NM_004174.2:c.1446+21C>G:p.(=) pathogenicity:0.0 [0/1]; 5:482168CAG>C NM_004174.2:c.1446+13_1446+14del:p.(=) pathogenicity:0.0 [0/1]; 5:482175G>C NM_004174.2:c.1446+8C>G:p.? pathogenicity:0.0 [0/1]; 5:482176CACTTA>C NM_004174.2:c.1446+2_1446+6del:p.? pathogenicity:0.9 [0/1]; 5:482183G>C NM_004174.2:c.1446C>G:p.(=) pathogenicity:0.0 [0/1]; 5:482185G>C NM_004174.2:c.1444C>G:p.(R482G) pathogenicity:1.0 [0/1]; 5:482186C>G NM_004174.2:c.1443G>C:p.(=) pathogenicity:0.0 [0/1]; 5:482653T>C NM_004174.2:c.1356+10A>G:p.(=) pathogenicity:0.0 [1/1]; 5:482948C>T NM_004174.2:c.1154-83G>A:p.(=) pathogenicity:0.0 [0/1]; 5:483002A>G NM_004174.2:c.1154-137T>C:p.(=) pathogenicity:0.0 [1/1]; 5:483564A>G NM_004174.2:c.966T>C:p.(=) pathogenicity:0.0 [0/1]; 5:485259G>T NM_004174.2:c.754+9C>A:p.(=) pathogenicity:0.0 [0/1]; 5:485826A>G NM_004174.2:c.676-480T>C:p.(=) pathogenicity:0.0 [./.]; 5:488192C>G NM_004174.2:c.675+239G>C:p.(=) pathogenicity:0.0 [1/1]; 5:488298A>G NM_004174.2:c.675+133T>C:p.(=) pathogenicity:0.0 [1/1]; 5:488310C>T NM_004174.2:c.675+121G>A:p.(=) pathogenicity:0.0 [0/1]; 5:488850T>C NM_004174.2:c.515-259A>G:p.(=) pathogenicity:0.0 [./.]; 5:491826G>C NM_004174.2:c.514+58C>G:p.(=) pathogenicity:0.0 [1/1]; 5:494906G>C NM_004174.2:c.212-2720C>G:p.(=) pathogenicity:0.0 [1/1]; 5:504850G>A NM_004174.2:c.212-12664C>T:p.(=) pathogenicity:0.0 [./.]; 5:504859G>A NM_004174.2:c.212-12673C>T:p.(=) pathogenicity:0.0 [./.]; 5:515096G>A NM_004174.2:c.211+9131C>T:p.(=) pathogenicity:0.0 [./.]; 5:517927A>ACCAT NM_004174.2:c.211+6299_211+6300insATGG:p.(=) pathogenicity:0.0 [1/1]; 5:518434C>T NM_004174.2:c.211+5793G>A:p.(=) pathogenicity:0.0 [./.]; 5:520829A>G NM_004174.2:c.211+3398T>C:p.(=) pathogenicity:0.0 [1/1]
51
+ 42 Saethre-Chotzen syndrome OMIM:101400 1/8371 0.00% -6.905 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
52
+ 43 Autoimmune disease, multisystem, infantile-onset, 2 OMIM:617006 1/8371 0.00% -7.123 NCBIGene:7535 2:98321905C>A NR_038386.1:: pathogenicity:0.0 [./.]; 2:98329043T>C NM_001079.3:: pathogenicity:0.0 [1/1]; 2:98329047T>G NM_001079.3:: pathogenicity:0.0 [1/1]; 2:98330218A>G NM_001079.3:c.-101+81A>G:p.(=) pathogenicity:0.0 [1/1]; 2:98334450A>G NM_001079.3:c.-22+3993A>G:p.(=) pathogenicity:0.0 [./.]; 2:98340364A>C NM_001079.3:c.-21-115A>C:p.(=) pathogenicity:0.0 [1/1]; 2:98355838G>T NM_001079.3:c.1737G>T:p.(K579N) pathogenicity:1.0 [0/1]; 2:98365250G>A NM_015348.1:: pathogenicity:0.0 [1/1]
53
+ 44 Nijmegen breakage syndrome-like disorder OMIM:613078 1/8371 0.00% -7.137 NCBIGene:10111 5:131892979G>A NM_005732.3:c.-38G>A:p.(=) pathogenicity:0.0 [1/1]; 5:131915213G>A NM_005732.3:c.551+19G>A:p.(=) pathogenicity:0.0 [0/1]; 5:131915317T>C NM_005732.3:c.551+123T>C:p.(=) pathogenicity:0.0 [1/1]; 5:131925483G>C NM_005732.3:c.1406G>C:p.(G469A) pathogenicity:1.0 [0/1]; 5:131951996T>C NM_005732.3:c.3164+174T>C:p.(=) pathogenicity:0.0 [0/1]; 5:131952072C>T NM_005732.3:c.3164+250C>T:p.(=) pathogenicity:0.0 [./.]; 5:131973663T>C NM_005732.3:c.3476-110T>C:p.(=) pathogenicity:0.0 [0/1]; 5:131974063T>A NM_005732.3:c.3618+148T>A:p.(=) pathogenicity:0.0 [1/1]; 5:131974677A>T NM_005732.3:c.3618+762A>T:p.(=) pathogenicity:0.0 [./.]
54
+ 45 Machado-Joseph disease OMIM:109150 1/8371 0.00% -7.146 NCBIGene:4287 14:92506583T>C XM_005268213.1:: pathogenicity:0.0 [0/1]; 14:92506864CA>C XM_005268213.1:: pathogenicity:0.0 [0/1]; 14:92525289CA>C NM_001127696.1:c.*5374del:p.(=) pathogenicity:0.0 [0/1]; 14:92525471C>T NM_001127696.1:c.*5193G>A:p.(=) pathogenicity:0.0 [1/1]; 14:92527078AT>A NM_001127696.1:c.*3585del:p.(=) pathogenicity:0.0 [0/1]; 14:92527977T>C NM_001127696.1:c.*2687A>G:p.(=) pathogenicity:0.0 [0/1]; 14:92528595C>T NM_001127696.1:c.*2069G>A:p.(=) pathogenicity:0.0 [0/1]; 14:92537088CT>C NM_001127696.1:c.946+190del:p.(=) pathogenicity:0.0 [0/1]; 14:92537354C>CCTGCTGCTGCTGCTGCTGCTGCTGCTG NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.(Q282_Q290dup) pathogenicity:0.9 [./1]; 14:92537354C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.(Q281_Q290dup) pathogenicity:0.9 [./1]; 14:92549586G>A NR_028458.1:n.459-7C>T: pathogenicity:0.0 [0/1]; 14:92560311A>G NM_001127696.1:c.190-136T>C:p.(=) pathogenicity:0.0 [1/1]; 14:92563254AT>A NM_001127696.1:c.25-73del:p.(=) pathogenicity:0.0 [./1]; 14:92563254A>AT NM_001127696.1:c.25-73_25-72insA:p.(=) pathogenicity:0.0 [./1]; 14:92567300A>G NM_001127696.1:c.25-4118T>C:p.(=) pathogenicity:0.0 [1/1]; 14:92568362T>C NM_001127696.1:c.24+4511A>G:p.(=) pathogenicity:0.0 [1/1]; 14:92576008T>A XM_005267660.1:: pathogenicity:0.0 [1/1]; 14:92582251A>G NM_004545.3:: pathogenicity:0.0 [1/1]; 14:92582291C>T NM_004545.3:: pathogenicity:0.0 [0/1]
55
+ 46 Microcephaly, short stature, and polymicrogyria with or without seizures OMIM:614833 1/8371 0.00% -7.215 NCBIGene:25914 18:67626876C>A XM_005266642.1:: pathogenicity:0.0 [./.]; 18:67626880CAT>C XM_005266642.1:: pathogenicity:0.0 [./.]; 18:67651538A>G XM_005266642.1:: pathogenicity:0.0 [1/1]; 18:67671656C>T NM_173630.3:c.6596-184G>A:p.(=) pathogenicity:0.0 [1/1]; 18:67671745T>C NM_173630.3:c.6596-273A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67672105TA>T NM_173630.3:c.6595+328del:p.(=) pathogenicity:0.0 [1/1]; 18:67672109T>C NM_173630.3:c.6595+325A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67672751T>C NM_173630.3:c.6526-248A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67675220T>C NM_173630.3:c.6422-1500A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67678777T>C NM_173630.3:c.6422-5057A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67685007C>T NM_173630.3:c.6154-97G>A:p.(=) pathogenicity:0.0 [1/1]; 18:67687860T>C NM_173630.3:c.6144A>G:p.(=) pathogenicity:0.0 [0/1]; 18:67705131A>T NM_173630.3:c.5542-6914T>A:p.(=) pathogenicity:0.0 [1/1]; 18:67710987T>C NM_173630.3:c.5541+4220A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67717203T>C NM_173630.3:c.5323+1444A>G:p.(=) pathogenicity:0.0 [./.]; 18:67718688A>G NM_173630.3:c.5282T>C:p.(F1761S) pathogenicity:0.0 [1/1]; 18:67721751A>C NM_173630.3:c.5032-231T>G:p.(=) pathogenicity:0.0 [1/1]; 18:67724802A>G NM_173630.3:c.5031+176T>C:p.(=) pathogenicity:0.0 [1/1]; 18:67724840G>C NM_173630.3:c.5031+138C>G:p.(=) pathogenicity:0.0 [0/1]; 18:67726975A>G NM_173630.3:c.4940+111T>C:p.(=) pathogenicity:0.0 [1/1]; 18:67727003A>T NM_173630.3:c.4940+83T>A:p.(=) pathogenicity:0.0 [1/1]; 18:67733234T>A NM_173630.3:c.4654-76A>T:p.(=) pathogenicity:0.0 [1/1]; 18:67741117G>A NM_173630.3:c.4653+25C>T:p.(=) pathogenicity:0.0 [1/1]; 18:67741309G>A NM_173630.3:c.4565-79C>T:p.(=) pathogenicity:0.0 [1/1]; 18:67742801G>A NM_173630.3:c.4375-24C>T:p.(=) pathogenicity:0.0 [1/1]; 18:67755337T>G NM_173630.3:c.4190A>C:p.(E1397A) pathogenicity:1.0 [0/1]; 18:67757852T>C NM_173630.3:c.4143+1494A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67759549C>A NM_173630.3:c.4033-93G>T:p.(=) pathogenicity:0.0 [1/1]; 18:67762363C>CT NM_173630.3:c.3904-2324_3904-2323insA:p.(=) pathogenicity:0.0 [./.]; 18:67770003A>G NM_173630.3:c.3903+6731T>C:p.(=) pathogenicity:0.0 [1/1]; 18:67772103CA>C NM_173630.3:c.3903+4630del:p.(=) pathogenicity:0.0 [1/1]; 18:67782463T>C NM_173630.3:c.3529-628A>G:p.(=) pathogenicity:0.0 [./.]; 18:67790181C>G NM_173630.3:c.3384-1245G>C:p.(=) pathogenicity:0.0 [1/1]; 18:67797167AAAT>A NM_173630.3:c.2955-1388_2955-1386del:p.(=) pathogenicity:0.0 [./.]; 18:67802250T>C NM_173630.3:c.2885+170A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67809647A>C NM_173630.3:c.2482-24T>G:p.(=) pathogenicity:0.0 [1/1]; 18:67812773G>A NM_173630.3:c.2481+75C>T:p.(=) pathogenicity:0.0 [1/1]; 18:67817744T>C NM_173630.3:c.2055+100A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67818046C>T NM_173630.3:c.1930-77G>A:p.(=) pathogenicity:0.0 [1/1]; 18:67818066T>C NM_173630.3:c.1930-97A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67818116CCTGT>C NM_173630.3:c.1930-151_1930-148del:p.(=) pathogenicity:0.0 [1/1]; 18:67819880G>A NM_173630.3:c.1930-1911C>T:p.(=) pathogenicity:0.0 [./.]; 18:67825625C>A NM_173630.3:c.1930-7656G>T:p.(=) pathogenicity:0.0 [1/1]; 18:67825629C>T NM_173630.3:c.1930-7660G>A:p.(=) pathogenicity:0.0 [1/1]; 18:67831786C>CA NM_173630.3:c.1929+1511_1929+1512insT:p.(=) pathogenicity:0.0 [1/1]; 18:67837241T>C NM_173630.3:c.1477-938A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67860719T>C NM_173630.3:c.842-30A>G:p.(=) pathogenicity:0.0 [1/1]; 18:67863532GA>G NM_173630.3:c.841+204del:p.(=) pathogenicity:0.0 [1/1]; 18:67863850T>TCTC NM_173630.3:c.725_727dup:p.(G242dup) pathogenicity:0.0 [1/1]; 18:67867663G>A NM_173630.3:c.488-923C>T:p.(=) pathogenicity:0.0 [1/1]; 18:67871343A>C NM_173630.3:c.376T>G:p.(S126A) pathogenicity:0.0 [1/1]; 18:67934824C>T NM_173630.3:: pathogenicity:0.0 [./.]; 18:67954028A>T NM_004232.3:: pathogenicity:0.0 [1/1]
56
+ 47 Knobloch syndrome 2 OMIM:618458 1/8371 0.00% -7.231 NCBIGene:5062 3:196466874G>T NM_002577.4:c.-176G>T:p.(=) pathogenicity:0.0 [1/1]; 3:196467338C>T NM_002577.4:c.-22+310C>T:p.(=) pathogenicity:0.0 [./.]; 3:196467603T>G NM_002577.4:c.-22+575T>G:p.(=) pathogenicity:0.0 [./.]; 3:196474856T>C NM_002577.4:c.-22+7828T>C:p.(=) pathogenicity:0.0 [1/1]; 3:196475142G>C NM_002577.4:c.-22+8114G>C:p.(=) pathogenicity:0.0 [1/1]; 3:196480335G>A NM_002577.4:c.-22+13307G>A:p.(=) pathogenicity:0.0 [1/1]; 3:196482195A>G NM_002577.4:c.-22+15167A>G:p.(=) pathogenicity:0.0 [1/1]; 3:196482211T>C NM_002577.4:c.-22+15183T>C:p.(=) pathogenicity:0.0 [1/1]; 3:196485590T>C NM_002577.4:c.-22+18562T>C:p.(=) pathogenicity:0.0 [1/1]; 3:196495363A>G NM_002577.4:c.-21-14134A>G:p.(=) pathogenicity:0.0 [1/1]; 3:196495375G>T NM_002577.4:c.-21-14122G>T:p.(=) pathogenicity:0.0 [1/1]; 3:196496687CAAAAAAGAAAAA>C NM_002577.4:c.-21-12809_-21-12798del:p.(=) pathogenicity:0.0 [1/1]; 3:196509425T>G NM_002577.4:c.-21-72T>G:p.(=) pathogenicity:0.0 [0/1]; 3:196525220C>CT NM_002577.4:c.188-3578_188-3577insT:p.(=) pathogenicity:0.0 [1/1]; 3:196526329G>A NM_002577.4:c.188-2469G>A:p.(=) pathogenicity:0.0 [1/1]; 3:196529902G>C NM_002577.4:c.303G>C:p.(Q101H) pathogenicity:1.0 [0/1]; 3:196529926C>A NM_002577.4:c.327C>A:p.(=) pathogenicity:0.0 [0/1]; 3:196529978C>T NM_002577.4:c.379C>T:p.(=) pathogenicity:0.0 [0/1]; 3:196529982A>G NM_002577.4:c.383A>G:p.(K128R) pathogenicity:0.0 [0/1]; 3:196530013A>G NM_002577.4:c.414A>G:p.(=) pathogenicity:0.0 [0/1]; 3:196530022C>T NM_002577.4:c.423C>T:p.(=) pathogenicity:0.0 [0/1]; 3:196532148C>CT NM_002577.4:c.437-75_437-74insT:p.(=) pathogenicity:0.0 [0/1]; 3:196541580G>A NM_002577.4:c.1053+141G>A:p.(=) pathogenicity:0.0 [0/1]; 3:196550439C>A NM_002577.4:c.1350+3001C>A:p.(=) pathogenicity:0.0 [0/1]; 3:196552109CG>C NM_002577.4:c.1351-1957del:p.(=) pathogenicity:0.0 [1/1]; 3:196554020C>T NM_002577.4:c.1351-47C>T:p.(=) pathogenicity:0.0 [0/1]; 3:196554266C>T XM_005269341.1:c.1550C>T:p.(A517V) pathogenicity:0.0 [0/1]; 3:196555443C>A NM_002577.4:c.*167C>A:p.(=) pathogenicity:0.0 [0/1]; 3:196555482G>A NM_002577.4:c.*206G>A:p.(=) pathogenicity:0.0 [0/1]; 3:196556809T>C NM_002577.4:c.*1533T>C:p.(=) pathogenicity:0.0 [0/1]; 3:196556843G>A NM_002577.4:c.*1567G>A:p.(=) pathogenicity:0.0 [0/1]; 3:196580958T>A NM_152699.4:: pathogenicity:0.0 [1/1]; 3:196580987C>T NM_152699.4:: pathogenicity:0.0 [1/1]; 3:196588631C>A NM_152699.4:: pathogenicity:0.0 [0/1]; 3:196593603T>TA NM_152699.4:: pathogenicity:0.0 [1/1]
57
+ 48 Kaufman oculocerebrofacial syndrome OMIM:244450 1/8371 0.00% -7.234 NCBIGene:89910 12:109915727G>T NM_001270449.1:c.-315G>T:p.(=) pathogenicity:0.0 [0/1]; 12:109919337C>A NM_001270449.1:c.-127-105C>A:p.(=) pathogenicity:0.0 [0/1]; 12:109924385CAAA>C NM_001270449.1:c.447+6_447+8del:p.? pathogenicity:0.8 [0/1]; 12:109925722A>G NM_001270449.1:c.448-655A>G:p.(=) pathogenicity:0.0 [1/1]; 12:109926207A>G NM_001270449.1:c.448-170A>G:p.(=) pathogenicity:0.0 [0/1]; 12:109930905C>G NM_130466.3:c.713+1973C>G:p.(=) pathogenicity:0.0 [0/1]; 12:109935475C>T NM_130466.3:c.714-148C>T:p.(=) pathogenicity:0.0 [0/1]; 12:109935894G>C NM_130466.3:c.820-144G>C:p.(=) pathogenicity:0.0 [0/1]; 12:109936211G>A NM_130466.3:c.940+53G>A:p.(=) pathogenicity:0.0 [0/1]; 12:109937534G>A NM_130466.3:c.1037G>A:p.(R346Q) pathogenicity:0.0 [1/1]; 12:109937907C>T NM_130466.3:c.1118+292C>T:p.(=) pathogenicity:0.0 [./.]; 12:109941000G>A NM_130466.3:c.1450+5G>A:p.? pathogenicity:0.8 [0/1]; 12:109941303G>A NM_130466.3:c.1450+308G>A:p.(=) pathogenicity:0.0 [0/1]; 12:109945203G>A NM_130466.3:c.1451-166G>A:p.(=) pathogenicity:0.0 [0/1]; 12:109949134C>T NM_130466.3:c.1956+26C>T:p.(=) pathogenicity:0.0 [0/1]; 12:109955317C>T NM_130466.3:c.2076+628C>T:p.(=) pathogenicity:0.0 [1/1]; 12:109959389TA>T NM_130466.3:c.2364+34del:p.(=) pathogenicity:0.0 [0/1]; 12:109964102C>T NM_130466.3:c.2569-61C>T:p.(=) pathogenicity:0.0 [0/1]; 12:109971215C>T NM_130466.3:c.2923-56C>T:p.(=) pathogenicity:0.0 [0/1]; 12:109971481C>G NM_130466.3:c.3015+118C>G:p.(=) pathogenicity:0.0 [0/1]; 12:109973273T>C NM_130466.3:c.*686T>C:p.(=) pathogenicity:0.0 [1/1]; 12:109973297A>G NM_130466.3:c.*710A>G:p.(=) pathogenicity:0.0 [0/1]; 12:109973979G>C NM_130466.3:c.*1392G>C:p.(=) pathogenicity:0.0 [1/1]; 12:109973981G>A NM_130466.3:c.*1394G>A:p.(=) pathogenicity:0.0 [0/1]; 12:109974151C>T NM_130466.3:c.*1564C>T:p.(=) pathogenicity:0.0 [0/1]; 12:109974191A>G NM_130466.3:c.*1604A>G:p.(=) pathogenicity:0.0 [0/1]; 12:109974264G>A NM_130466.3:c.*1677G>A:p.(=) pathogenicity:0.0 [0/1]; 12:109974295CAAG>C NM_130466.3:c.*1709_*1711del:p.(=) pathogenicity:0.0 [0/1]; 12:109977088G>A NM_183415.2:: pathogenicity:0.0 [1/1]; 12:109986918C>G NR_038118.1:: pathogenicity:0.0 [1/1]; 12:109986935G>A NR_038118.1:: pathogenicity:0.0 [1/1]; 12:109989228G>T NR_038118.1:: pathogenicity:0.0 [1/1]; 12:109990369T>C NR_038118.1:: pathogenicity:0.0 [1/1]
58
+ 49 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 1/8371 0.00% -7.243 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
59
+ 50 Pfeiffer syndrome OMIM:101600 1/8371 0.00% -7.243 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
60
+ 51 Primary aldosteronism, seizures, and neurologic abnormalities OMIM:615474 1/8371 0.00% -7.266 NCBIGene:776 3:53456524T>C NM_018403.5:: pathogenicity:0.0 [1/1]; 3:53457309A>C NM_018403.5:: pathogenicity:0.0 [./.]; 3:53475648T>G NM_018403.5:: pathogenicity:0.0 [./.]; 3:53479938G>A NM_018403.5:: pathogenicity:0.0 [./.]; 3:53504251C>T NM_018403.5:: pathogenicity:0.0 [1/1]; 3:53545454G>C NM_000720.3:c.483+9707G>C:p.(=) pathogenicity:0.0 [1/1]; 3:53612818T>C NM_000720.3:c.484-71988T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53619142C>T NM_000720.3:c.484-65664C>T:p.(=) pathogenicity:0.0 [./.]; 3:53619143G>GC NM_000720.3:c.484-65663_484-65662insC:p.(=) pathogenicity:0.0 [./.]; 3:53685039T>C NM_000720.3:c.623+94T>C:p.(=) pathogenicity:0.0 [0/1]; 3:53700550T>C NM_000720.3:c.1104T>C:p.(=) pathogenicity:0.0 [0/1]; 3:53717737CAGT>C NM_000720.3:c.1220+9895_1220+9897del:p.(=) pathogenicity:0.0 [1/1]; 3:53738774C>T NM_000720.3:c.1390+1937C>T:p.(=) pathogenicity:0.0 [./.]; 3:53745625A>C NM_000720.3:c.1391-6703A>C:p.(=) pathogenicity:0.0 [./.]; 3:53752120T>C NM_000720.3:c.1391-208T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53752602A>C NM_000720.3:c.1479-107A>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752609G>C NM_000720.3:c.1479-100G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752617G>C NM_000720.3:c.1479-92G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752624G>C NM_000720.3:c.1479-85G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752625G>C NM_000720.3:c.1479-84G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752643C>T NM_000720.3:c.1479-66C>T:p.(=) pathogenicity:0.0 [0/1]; 3:53752676G>A NM_000720.3:c.1479-33G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53765448A>G NM_000720.3:c.2466+275A>G:p.(=) pathogenicity:0.0 [./.]; 3:53766026T>C NM_000720.3:c.2467-17T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53767689G>C NM_000720.3:c.2681+700G>C:p.(=) pathogenicity:0.0 [./.]; 3:53776995T>C NM_000720.3:c.2872-43T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53777176T>C NM_000720.3:c.2978+32T>C:p.(=) pathogenicity:0.0 [0/1]; 3:53778621G>A NM_000720.3:c.2979-146G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53778875G>T NM_000720.3:c.3066+21G>T:p.(=) pathogenicity:0.0 [0/1]; 3:53779580G>C NM_000720.3:c.3067-71G>C:p.(=) pathogenicity:0.0 [1/1]; 3:53780081C>T NM_000720.3:c.3227+179C>T:p.(=) pathogenicity:0.0 [1/1]; 3:53780082A>G NM_000720.3:c.3227+180A>G:p.(=) pathogenicity:0.0 [1/1]; 3:53780217T>C NM_000720.3:c.3227+315T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53798334C>G NM_000720.3:c.3930+2226C>G:p.(=) pathogenicity:0.0 [./.]; 3:53798465A>T NM_000720.3:c.3930+2357A>T:p.(=) pathogenicity:0.0 [./.]; 3:53798466G>C NM_000720.3:c.3930+2358G>C:p.(=) pathogenicity:0.0 [./.]; 3:53803263G>A NM_000720.3:c.3931-737G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53806803G>C NM_000720.3:c.4105-57G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53806817G>A NM_000720.3:c.4105-43G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53808387C>G NM_000720.3:c.4171-227C>G:p.(=) pathogenicity:0.0 [0/1]; 3:53814197G>A NM_000720.3:c.4750+42G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53818052C>T NM_000720.3:c.4852+2358C>T:p.(=) pathogenicity:0.0 [1/1]; 3:53821261T>G NM_000720.3:c.4983+282T>G:p.(=) pathogenicity:0.0 [1/1]; 3:53845236G>A NM_000720.3:c.6349G>A:p.(D2117N) pathogenicity:1.0 [0/1]
61
+ 52 Epileptic encephalopathy, early infantile, 81 OMIM:618663 1/8371 0.00% -7.38 NCBIGene:23312 15:51706015A>G NM_001174117.1:: pathogenicity:0.0 [1/1]; 15:51717067T>TA NM_001174117.1:: pathogenicity:0.0 [1/1]; 15:51741056G>A NM_001174116.1:c.*125C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51741579C>T NM_001174116.1:c.8905-189G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51745608CTG>C NM_001174116.1:c.8633+137_8633+138del:p.(=) pathogenicity:0.0 [1/1]; 15:51748146T>C NM_001174116.1:c.8463+117A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51748610A>G NM_001174116.1:c.8275-44T>C:p.(=) pathogenicity:0.0 [0/1]; 15:51749345C>G NM_001174116.1:c.8274+180G>C:p.(=) pathogenicity:0.0 [1/1]; 15:51749726A>C NM_001174116.1:c.8136-63T>G:p.(=) pathogenicity:0.0 [0/1]; 15:51750609C>T NM_001174116.1:c.8135+94G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51750652G>A NM_001174116.1:c.8135+51C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51750846G>A NM_001174116.1:c.8014-22C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51751091TAGCAGC>T NM_001174116.1:c.7927-105_7927-100del:p.(=) pathogenicity:0.0 [1/1]; 15:51751435T>G NM_001174116.1:c.7927-443A>C:p.(=) pathogenicity:0.0 [1/1]; 15:51757621G>A NM_001174116.1:c.7606+142C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51757826T>C NM_001174116.1:c.7543A>G:p.(M2515V) pathogenicity:1.0 [0/1]; 15:51758345CA>C NM_001174116.1:c.7520+35del:p.(=) pathogenicity:0.0 [1/1]; 15:51763249C>G NM_001174116.1:c.7392+171G>C:p.(=) pathogenicity:0.0 [1/1]; 15:51768755AT>A NM_001174116.1:c.6964+30del:p.(=) pathogenicity:0.0 [0/1]; 15:51770456AT>A NM_001174116.1:c.6833+11del:p.(=) pathogenicity:0.0 [1/1]; 15:51780722C>T NM_001174116.1:c.5051+23G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51783820T>C NM_001174116.1:c.4908A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51783981G>C NM_001174116.1:c.4784-37C>G:p.(=) pathogenicity:0.0 [0/1]; 15:51784689T>G NM_001174116.1:c.4784-745A>C:p.(=) pathogenicity:0.0 [1/1]; 15:51784694G>GT NM_001174116.1:c.4784-751_4784-750insA:p.(=) pathogenicity:0.0 [1/1]; 15:51791559A>G NM_001174116.1:c.3862T>C:p.(S1288P) pathogenicity:0.0 [0/1]; 15:51795172G>A NM_001174116.1:c.2823C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51829812G>A NM_001174116.1:c.1490C>T:p.(T497M) pathogenicity:0.0 [0/1]; 15:51829995T>C NM_001174116.1:c.1346-39A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51840194T>C NM_001174116.1:c.568-589A>G:p.(=) pathogenicity:0.0 [./.]; 15:51856190GA>G NM_001174116.1:c.500+131del:p.(=) pathogenicity:0.0 [0/1]; 15:51857220C>T NM_001174116.1:c.364+65G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51865334C>A NM_001174116.1:c.213+2919G>T:p.(=) pathogenicity:0.0 [./.]; 15:51865877T>C NM_001174116.1:c.213+2376A>G:p.(=) pathogenicity:0.0 [./.]; 15:51868373A>G NM_001174116.1:c.93T>C:p.(=) pathogenicity:0.0 [0/1]; 15:51891562G>C NM_001174116.1:c.87+23094C>G:p.(=) pathogenicity:0.0 [1/1]; 15:51905498C>T NM_001174116.1:c.87+9158G>A:p.(=) pathogenicity:0.0 [./.]; 15:51914662G>A NM_001174116.1:c.81C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51914716T>C NM_001174116.1:c.27A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51914778T>G NM_001174116.1:c.-36A>C:p.(=) pathogenicity:0.0 [0/1]; 15:51927562C>T XM_005254257.1:: pathogenicity:0.0 [1/1]; 15:51951245C>T XM_005254257.1:: pathogenicity:0.0 [./.]; 15:51961871C>A XM_005254257.1:: pathogenicity:0.0 [1/1]
62
+ 53 Spastic paraplegia 42, autosomal dominant OMIM:612539 1/8371 0.00% -7.499 NCBIGene:9197 3:155526790C>T XM_005247378.1:: pathogenicity:0.0 [./.]; 3:155527287A>T XM_005247378.1:: pathogenicity:0.0 [./.]; 3:155528565T>C XM_005247378.1:: pathogenicity:0.0 [1/1]; 3:155546124C>T NM_001190992.1:c.1525G>A:p.(G509S) pathogenicity:0.9 [0/1]; 3:155551990G>A NM_001190992.1:c.964-160C>T:p.(=) pathogenicity:0.0 [1/1]; 3:155569197AT>A NM_001190992.1:c.775+1814del:p.(=) pathogenicity:0.0 [1/1]; 3:155570076C>A NM_001190992.1:c.775+936G>T:p.(=) pathogenicity:0.0 [./.]; 3:155572129C>T NM_001190992.1:c.-343G>A:p.(=) pathogenicity:0.0 [1/1]; 3:155578665C>A NM_003875.2:: pathogenicity:0.0 [./.]; 3:155579375AT>A NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155582285C>T NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155582293A>C NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155582301T>C NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155584650A>C NM_003875.2:: pathogenicity:0.0 [1/1]; 3:155584653C>G NM_003875.2:: pathogenicity:0.0 [1/1]
63
+ 54 Metaphyseal chondrodysplasia, Jansen type OMIM:156400 1/8371 0.00% -7.516 NCBIGene:5745 3:46910618A>C NM_000258.2:: pathogenicity:0.0 [./.]; 3:46915059C>T NM_000316.2:: pathogenicity:0.0 [0/1]; 3:46933266G>T NM_000316.2:c.76-2131G>T:p.(=) pathogenicity:0.0 [./.]; 3:46938247A>C NM_000316.2:c.313+888A>C:p.(=) pathogenicity:0.0 [1/1]; 3:46939588G>A NM_000316.2:c.449G>A:p.(R150H) pathogenicity:0.8 [0/1]; 3:46941116A>G NM_000316.2:c.988+170A>G:p.(=) pathogenicity:0.0 [1/1]; 3:46943028T>C NM_000316.2:c.1116+58T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46944274T>C NM_000316.2:c.1389T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46945263G>GA NM_000316.2:c.*127dup:p.(=) pathogenicity:0.0 [1/1]; 3:46947087T>A XM_005265343.1:: pathogenicity:0.0 [1/1]; 3:46949379G>A XM_005265343.1:: pathogenicity:0.0 [./.]; 3:46957298G>A NR_102269.1:: pathogenicity:0.0 [1/1]
64
+ 55 Sinoatrial node dysfunction and deafness OMIM:614896 1/8371 0.00% -7.577 NCBIGene:776 3:53456524T>C NM_018403.5:: pathogenicity:0.0 [1/1]; 3:53457309A>C NM_018403.5:: pathogenicity:0.0 [./.]; 3:53475648T>G NM_018403.5:: pathogenicity:0.0 [./.]; 3:53479938G>A NM_018403.5:: pathogenicity:0.0 [./.]; 3:53504251C>T NM_018403.5:: pathogenicity:0.0 [1/1]; 3:53545454G>C NM_000720.3:c.483+9707G>C:p.(=) pathogenicity:0.0 [1/1]; 3:53612818T>C NM_000720.3:c.484-71988T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53619142C>T NM_000720.3:c.484-65664C>T:p.(=) pathogenicity:0.0 [./.]; 3:53619143G>GC NM_000720.3:c.484-65663_484-65662insC:p.(=) pathogenicity:0.0 [./.]; 3:53685039T>C NM_000720.3:c.623+94T>C:p.(=) pathogenicity:0.0 [0/1]; 3:53700550T>C NM_000720.3:c.1104T>C:p.(=) pathogenicity:0.0 [0/1]; 3:53717737CAGT>C NM_000720.3:c.1220+9895_1220+9897del:p.(=) pathogenicity:0.0 [1/1]; 3:53738774C>T NM_000720.3:c.1390+1937C>T:p.(=) pathogenicity:0.0 [./.]; 3:53745625A>C NM_000720.3:c.1391-6703A>C:p.(=) pathogenicity:0.0 [./.]; 3:53752120T>C NM_000720.3:c.1391-208T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53752602A>C NM_000720.3:c.1479-107A>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752609G>C NM_000720.3:c.1479-100G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752617G>C NM_000720.3:c.1479-92G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752624G>C NM_000720.3:c.1479-85G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752625G>C NM_000720.3:c.1479-84G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53752643C>T NM_000720.3:c.1479-66C>T:p.(=) pathogenicity:0.0 [0/1]; 3:53752676G>A NM_000720.3:c.1479-33G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53765448A>G NM_000720.3:c.2466+275A>G:p.(=) pathogenicity:0.0 [./.]; 3:53766026T>C NM_000720.3:c.2467-17T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53767689G>C NM_000720.3:c.2681+700G>C:p.(=) pathogenicity:0.0 [./.]; 3:53776995T>C NM_000720.3:c.2872-43T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53777176T>C NM_000720.3:c.2978+32T>C:p.(=) pathogenicity:0.0 [0/1]; 3:53778621G>A NM_000720.3:c.2979-146G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53778875G>T NM_000720.3:c.3066+21G>T:p.(=) pathogenicity:0.0 [0/1]; 3:53779580G>C NM_000720.3:c.3067-71G>C:p.(=) pathogenicity:0.0 [1/1]; 3:53780081C>T NM_000720.3:c.3227+179C>T:p.(=) pathogenicity:0.0 [1/1]; 3:53780082A>G NM_000720.3:c.3227+180A>G:p.(=) pathogenicity:0.0 [1/1]; 3:53780217T>C NM_000720.3:c.3227+315T>C:p.(=) pathogenicity:0.0 [1/1]; 3:53798334C>G NM_000720.3:c.3930+2226C>G:p.(=) pathogenicity:0.0 [./.]; 3:53798465A>T NM_000720.3:c.3930+2357A>T:p.(=) pathogenicity:0.0 [./.]; 3:53798466G>C NM_000720.3:c.3930+2358G>C:p.(=) pathogenicity:0.0 [./.]; 3:53803263G>A NM_000720.3:c.3931-737G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53806803G>C NM_000720.3:c.4105-57G>C:p.(=) pathogenicity:0.0 [0/1]; 3:53806817G>A NM_000720.3:c.4105-43G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53808387C>G NM_000720.3:c.4171-227C>G:p.(=) pathogenicity:0.0 [0/1]; 3:53814197G>A NM_000720.3:c.4750+42G>A:p.(=) pathogenicity:0.0 [0/1]; 3:53818052C>T NM_000720.3:c.4852+2358C>T:p.(=) pathogenicity:0.0 [1/1]; 3:53821261T>G NM_000720.3:c.4983+282T>G:p.(=) pathogenicity:0.0 [1/1]; 3:53845236G>A NM_000720.3:c.6349G>A:p.(D2117N) pathogenicity:1.0 [0/1]
65
+ 56 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy OMIM:604772 1/8371 0.00% -7.606 NCBIGene:845 1:116242737CAT>C NM_001232.3:c.*1123_*1124del:p.(=) pathogenicity:0.0 [0/1]; 1:116242844AT>A NM_001232.3:c.*1017del:p.(=) pathogenicity:0.0 [0/1]; 1:116243230C>G NM_001232.3:c.*632G>C:p.(=) pathogenicity:0.0 [1/1]; 1:116243380G>A NM_001232.3:c.*482C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116243877G>A NM_001232.3:c.1185C>T:p.(=) pathogenicity:0.0 [0/1]; 1:116245809C>T NM_001232.3:c.940-193G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116247466C>T NM_001232.3:c.939+347G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116247535G>C NM_001232.3:c.939+278C>G:p.(=) pathogenicity:0.0 [1/1]; 1:116247545C>T NM_001232.3:c.939+268G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116247557C>G NM_001232.3:c.939+256G>C:p.(=) pathogenicity:0.0 [./.]; 1:116247623C>T NM_001232.3:c.939+190G>A:p.(=) pathogenicity:0.0 [./.]; 1:116247790G>A NM_001232.3:c.939+23C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116247826T>C NM_001232.3:c.926A>G:p.(D309G) pathogenicity:1.0 [0/1]; 1:116254213G>GGT NM_001232.3:c.838+6247_838+6248insAC:p.(=) pathogenicity:0.0 [1/1]; 1:116254214A>T NM_001232.3:c.838+6247T>A:p.(=) pathogenicity:0.0 [1/1]; 1:116257891C>T NM_001232.3:c.838+2570G>A:p.(=) pathogenicity:0.0 [./.]; 1:116260066C>G NM_001232.3:c.838+395G>C:p.(=) pathogenicity:0.0 [./.]; 1:116260532A>T NM_001232.3:c.784-17T>A:p.(=) pathogenicity:0.0 [1/1]; 1:116260544C>T NM_001232.3:c.784-29G>A:p.(=) pathogenicity:0.0 [0/1]; 1:116260604G>A NM_001232.3:c.784-89C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116268283C>T NM_001232.3:c.738-109G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116268699A>G NM_001232.3:c.738-525T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116278503C>A NM_001232.3:c.532+2342G>T:p.(=) pathogenicity:0.0 [./.]; 1:116280144G>A NM_001232.3:c.532+701C>T:p.(=) pathogenicity:0.0 [./.]; 1:116281902T>TTGG NM_001232.3:c.421-947_421-946insCCA:p.(=) pathogenicity:0.0 [1/1]; 1:116281904A>T NM_001232.3:c.421-948T>A:p.(=) pathogenicity:0.0 [1/1]; 1:116281910GTAT>G NM_001232.3:c.421-957_421-955del:p.(=) pathogenicity:0.0 [1/1]; 1:116283343A>G NM_001232.3:c.420+6T>C:p.? pathogenicity:0.0 [1/1]; 1:116283526G>A NM_001232.3:c.320-77C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116283849A>G NM_001232.3:c.320-400T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116283921T>C NM_001232.3:c.320-472A>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284135A>C NM_001232.3:c.320-686T>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284547G>C NM_001232.3:c.320-1098C>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284557A>C NM_001232.3:c.320-1108T>G:p.(=) pathogenicity:0.0 [1/1]; 1:116284575G>A NM_001232.3:c.320-1126C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116284602G>A NM_001232.3:c.320-1153C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116284606A>G NM_001232.3:c.320-1157T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116284726G>T NM_001232.3:c.320-1277C>A:p.(=) pathogenicity:0.0 [1/1]; 1:116285449T>G NM_001232.3:c.319+2000A>C:p.(=) pathogenicity:0.0 [1/1]; 1:116285853T>TATTC NM_001232.3:c.319+1595_319+1596insGAAT:p.(=) pathogenicity:0.0 [1/1]; 1:116285906T>G NM_001232.3:c.319+1543A>C:p.(=) pathogenicity:0.0 [1/1]; 1:116287305C>T NM_001232.3:c.319+144G>A:p.(=) pathogenicity:0.0 [1/1]; 1:116287634A>G NM_001232.3:c.235-101T>C:p.(=) pathogenicity:0.0 [1/1]; 1:116287651G>A NM_001232.3:c.235-118C>T:p.(=) pathogenicity:0.0 [1/1]; 1:116289164A>G NM_001232.3:c.235-1631T>C:p.(=) pathogenicity:0.0 [./.]; 1:116292355G>A NM_001232.3:c.235-4822C>T:p.(=) pathogenicity:0.0 [./.]; 1:116292369T>C NM_001232.3:c.235-4836A>G:p.(=) pathogenicity:0.0 [./.]; 1:116292387C>T NM_001232.3:c.235-4854G>A:p.(=) pathogenicity:0.0 [./.]; 1:116292402A>G NM_001232.3:c.235-4869T>C:p.(=) pathogenicity:0.0 [./.]; 1:116293111A>C NM_001232.3:c.235-5578T>G:p.(=) pathogenicity:0.0 [1/1]; 1:116310818G>C NM_001232.3:c.234+111C>G:p.(=) pathogenicity:0.0 [./.]; 1:116310967T>C NM_001232.3:c.196A>G:p.(T66A) pathogenicity:0.0 [0/1]; 1:116311198T>C NM_001232.3:c.-36A>G:p.(=) pathogenicity:0.0 [1/1]; 1:116311366G>GCACACACA NM_001232.3:c.-212_-205dup:p.(=) pathogenicity:0.0 [0/1]; 1:116315386C>CG NM_001232.3:: pathogenicity:0.0 [1/1]; 1:116315787T>C NM_001232.3:: pathogenicity:0.0 [1/1]; 1:116323181C>T NM_001111061.1:: pathogenicity:0.0 [./.]; 1:116340260A>G NM_001111061.1:: pathogenicity:0.0 [./.]
66
+ 57 Oculodentodigital dysplasia OMIM:164200 1/8371 0.00% -7.868 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
67
+ 58 Long QT syndrome 11 OMIM:611820 1/8371 0.00% -7.994 NCBIGene:10142 7:91515419G>A XM_005250103.1:: pathogenicity:0.0 [./.]; 7:91547369C>A XM_005250103.1:: pathogenicity:0.0 [1/1]; 7:91558326A>T XM_005250103.1:: pathogenicity:0.0 [1/1]; 7:91558342G>T XM_005250103.1:: pathogenicity:0.0 [1/1]; 7:91561709C>T XM_005250103.1:: pathogenicity:0.0 [1/1]; 7:91570129C>T XM_005250103.1:: pathogenicity:0.0 [0/1]; 7:91570290G>C NM_005751.4:c.-124G>C:p.(=) pathogenicity:0.0 [0/1]; 7:91586389A>G NM_005751.4:c.48+15928A>G:p.(=) pathogenicity:0.0 [0/1]; 7:91588776TAA>T NM_005751.4:c.49-14248_49-14247del:p.(=) pathogenicity:0.0 [./.]; 7:91627234T>C NM_005751.4:c.930+2120T>C:p.(=) pathogenicity:0.0 [./.]; 7:91630620G>T NM_005751.4:c.1389G>T:p.(M463I) pathogenicity:0.0 [0/1]; 7:91632306C>T NM_005751.4:c.3075C>T:p.(=) pathogenicity:0.0 [1/1]; 7:91641928A>G NM_005751.4:c.3504A>G:p.(=) pathogenicity:0.0 [0/1]; 7:91643402G>T NM_005751.4:c.3533-161G>T:p.(=) pathogenicity:0.0 [0/1]; 7:91646198C>T NM_005751.4:c.3752-133C>T:p.(=) pathogenicity:0.0 [1/1]; 7:91652178A>AAAC NM_005751.4:c.4004_4006dup:p.(K1335_L1336insQ) pathogenicity:0.0 [0/1]; 7:91659150C>G NM_005751.4:c.4149-59C>G:p.(=) pathogenicity:0.0 [0/1]; 7:91667577C>T NM_005751.4:c.4339-156C>T:p.(=) pathogenicity:0.0 [./.]; 7:91667692T>G NM_005751.4:c.4339-41T>G:p.(=) pathogenicity:0.0 [1/1]; 7:91669960G>GT NM_005751.4:c.4693-28_4693-27insT:p.(=) pathogenicity:0.0 [0/1]; 7:91670318A>AT NM_005751.4:c.4917+106_4917+107insT:p.(=) pathogenicity:0.0 [0/1]; 7:91671853C>A NM_005751.4:c.5059-129C>A:p.(=) pathogenicity:0.0 [0/1]; 7:91674302G>A NM_005751.4:c.5163-20G>A:p.(=) pathogenicity:0.0 [1/1]; 7:91690457A>G NM_005751.4:c.5602-117A>G:p.(=) pathogenicity:0.0 [0/1]; 7:91691601C>T NM_005751.4:c.5778C>T:p.(=) pathogenicity:0.0 [0/1]; 7:91694743A>G NM_005751.4:c.6176A>G:p.(E2059G) pathogenicity:1.0 [0/1]; 7:91699715GTTGTT>G NM_005751.4:c.6507+196_6507+200del:p.(=) pathogenicity:0.0 [1/1]; 7:91699779G>A NM_005751.4:c.6507+259G>A:p.(=) pathogenicity:0.0 [0/1]; 7:91699980C>T NM_005751.4:c.6508-239C>T:p.(=) pathogenicity:0.0 [0/1]; 7:91707197C>T NM_005751.4:c.6945+8C>T:p.? pathogenicity:0.0 [0/1]; 7:91707620T>TTTTAA NM_005751.4:c.6945+431_6945+432insTTTAA:p.(=) pathogenicity:0.0 [1/1]; 7:91711791A>G NM_005751.4:c.8020-45A>G:p.(=) pathogenicity:0.0 [0/1]; 7:91712698A>G NM_005751.4:c.8375A>G:p.(N2792S) pathogenicity:0.0 [0/1]; 7:91713972C>T NM_005751.4:c.8665C>T:p.(=) pathogenicity:0.0 [0/1]; 7:91714092AT>A NM_005751.4:c.8711-40del:p.(=) pathogenicity:0.0 [0/1]; 7:91714911C>T NM_005751.4:c.8935C>T:p.(P2979S) pathogenicity:0.0 [1/1]; 7:91715662C>T NM_005751.4:c.9145C>T:p.(=) pathogenicity:0.0 [0/1]; 7:91726927A>C NM_005751.4:c.10426A>C:p.(=) pathogenicity:0.0 [0/1]; 7:91727385G>A NM_005751.4:c.10608-38G>A:p.(=) pathogenicity:0.0 [0/1]; 7:91733507T>TA NM_005751.4:c.11330+1367_11330+1368insA:p.(=) pathogenicity:0.0 [./.]; 7:91733511T>A NM_005751.4:c.11330+1371T>A:p.(=) pathogenicity:0.0 [./.]; 7:91736464T>G NM_005751.4:c.11417-143T>G:p.(=) pathogenicity:0.0 [0/1]; 7:91736794T>A NM_005751.4:c.11546+58T>A:p.(=) pathogenicity:0.0 [0/1]; 7:91736874A>G NM_005751.4:c.11546+138A>G:p.(=) pathogenicity:0.0 [0/1]; 7:91736921C>T NM_005751.4:c.11546+185C>T:p.(=) pathogenicity:0.0 [0/1]
68
+ 59 Epilepsy, nocturnal frontal lobe, 5 OMIM:615005 1/8371 0.00% -8.007 NCBIGene:57582 9:138591980C>T NM_001101677.1:: pathogenicity:0.0 [1/1]; 9:138596974G>A NM_001272003.1:c.110+2760G>A:p.(=) pathogenicity:0.0 [./.]; 9:138610259A>G NM_001272003.1:c.110+16045A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138639874A>G NM_001272003.1:c.111-2070A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138642912C>A NM_001272003.1:c.290+25C>A:p.(=) pathogenicity:0.0 [0/1]; 9:138644203T>C NM_001272003.1:c.290+1316T>C:p.(=) pathogenicity:0.0 [1/1]; 9:138645716C>T NM_001272003.1:c.291-67C>T:p.(=) pathogenicity:0.0 [0/1]; 9:138646881C>T NM_001272003.1:c.348-86C>T:p.(=) pathogenicity:0.0 [0/1]; 9:138648851C>CTCCCATCT NM_001272003.1:c.456+73_456+74insTCCCATCT:p.(=) pathogenicity:0.0 [0/1]; 9:138648955A>C NM_001272003.1:c.457-47A>C:p.(=) pathogenicity:0.0 [0/0]; 9:138653491G>T NM_001272003.1:c.900+1786G>T:p.(=) pathogenicity:0.0 [0/0]; 9:138653508A>G NM_001272003.1:c.900+1803A>G:p.(=) pathogenicity:0.0 [0/0]; 9:138655660G>A NM_001272003.1:c.901-1217G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138655672T>G NM_001272003.1:c.901-1205T>G:p.(=) pathogenicity:0.0 [1/1]; 9:138656707A>G NM_001272003.1:c.901-170A>G:p.(=) pathogenicity:0.0 [./.]; 9:138656783T>C NM_001272003.1:c.901-94T>C:p.(=) pathogenicity:0.0 [1/1]; 9:138656838A>G NM_001272003.1:c.901-39A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138657053T>G NM_001272003.1:c.1065+12T>G:p.(=) pathogenicity:0.0 [1/1]; 9:138657171T>C NM_001272003.1:c.1065+130T>C:p.(=) pathogenicity:0.0 [1/1]; 9:138657195CGCCATCCTCTCCCCAGGACT>C NM_001272003.1:c.1065+155_1065+174del:p.(=) pathogenicity:0.0 [1/1]; 9:138657635A>G NM_001272003.1:c.1202+29A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138657687G>A NM_001272003.1:c.1202+81G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138657727A>C NM_001272003.1:c.1202+121A>C:p.(=) pathogenicity:0.0 [1/1]; 9:138659562C>G NM_001272003.1:c.1203-894C>G:p.(=) pathogenicity:0.0 [1/1]; 9:138660237G>A NM_001272003.1:c.1203-219G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138660879A>G NM_001272003.1:c.1375+96A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138660945ATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGG>A NM_001272003.1:c.1375+163_1375+202del:p.(=) pathogenicity:0.0 [1/1]; 9:138660989A>G NM_001272003.1:c.1375+206A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138662309A>G NM_001272003.1:c.1634+16A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138662360T>G NM_001272003.1:c.1634+67T>G:p.(=) pathogenicity:0.0 [1/1]; 9:138662962G>A NM_001272003.1:c.1873+21G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138663945G>A NM_001272003.1:c.1874-616G>A:p.(=) pathogenicity:0.0 [./.]; 9:138664973G>A NM_001272003.1:c.2108+178G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138665623A>G NM_001272003.1:c.2108+828A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138669261G>A NM_001272003.1:c.2292G>A:p.(=) pathogenicity:0.0 [1/1]; 9:138669831A>ATGCTCTCAGCTCCTCCC NM_001272003.1:c.2388-439_2388-438insTGCTCTCAGCTCCTCCC:p.(=) pathogenicity:0.0 [0/1]; 9:138672257C>T NM_001272003.1:c.2706+941C>T:p.(=) pathogenicity:0.0 [1/1]; 9:138674133C>T NM_001272003.1:c.2707-1737C>T:p.(=) pathogenicity:0.0 [1/1]; 9:138674134A>G NM_001272003.1:c.2707-1736A>G:p.(=) pathogenicity:0.0 [1/1]; 9:138675790C>G NM_001272003.1:c.2707-80C>G:p.(=) pathogenicity:0.0 [0/1]; 9:138675801A>C NM_001272003.1:c.2707-69A>C:p.(=) pathogenicity:0.0 [0/1]; 9:138676328GCTCCCTCCCTCC>G NM_001272003.1:c.2809-52_2809-41del:p.(=) pathogenicity:0.0 [0/1]; 9:138678016CGCCCT>C NM_001272003.1:c.3043-26_3043-22del:p.(=) pathogenicity:0.0 [0/1]; 9:138683575T>C NM_001272003.1:c.3431-68T>C:p.(=) pathogenicity:0.0 [0/1]; 9:138683790T>C NM_001272003.1:c.3515+63T>C:p.(=) pathogenicity:0.0 [0/1]; 9:138683798C>T NM_001272003.1:c.3515+71C>T:p.(=) pathogenicity:0.0 [0/1]; 9:138683984A>G NM_001272003.1:c.3613A>G:p.(T1205A) pathogenicity:1.0 [0/1]; 9:138684454A>G NM_001272003.1:c.*447A>G:p.(=) pathogenicity:0.0 [0/1]; 9:138695875CT>C XM_005263397.1:: pathogenicity:0.0 [./.]
69
+ 60 Gastric cancer, somatic OMIM:613659 1/8371 0.00% -8.055 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 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10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
70
+ 61 Chromosome 2q37 deletion syndrome OMIM:600430 1/8371 0.00% -8.136 NCBIGene:9759 2:239849183T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239849200A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239850235C>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239850444A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239854543GAAGAA>G NR_034162.1:: pathogenicity:0.0 [./.]; 2:239854550TGAACC>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239862093A>G NR_034162.1:: pathogenicity:0.0 [./.]; 2:239864510C>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239864519G>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239865546C>T NR_034162.1:: pathogenicity:0.0 [0/1]; 2:239871408T>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239876891G>C NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239888961C>CA NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239889955T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239892918C>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239910013G>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239915134G>GGAAA NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239919408G>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239919412G>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239928243T>TTCTC NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239935135T>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239935144C>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239935441A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239937343C>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239937344A>G NR_034162.1:: pathogenicity:0.0 [./.]; 2:239937683C>T NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239937689A>G NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239937948T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239947653C>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239949455T>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239951235G>T NR_034162.1:: pathogenicity:0.0 [./.]; 2:239953723T>C NR_034162.1:: pathogenicity:0.0 [./.]; 2:239959350AC>A NR_034162.1:: pathogenicity:0.0 [./.]; 2:239960133CGGGGCGGCTGGCCAGGCGGGGGCTGCCCCCCACCTCCCAGAT>C NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239960194G>A NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239961625C>CACAT NR_034162.1:: pathogenicity:0.0 [./.]; 2:239962156T>C NR_034162.1:: pathogenicity:0.0 [1/1]; 2:239976597C>T NM_006037.3:c.2989-68G>A:p.(=) pathogenicity:0.0 [0/1]; 2:240003870G>A NM_006037.3:c.2565C>T:p.(=) pathogenicity:0.0 [0/1]; 2:240015784T>C NM_006037.3:c.2265+922A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240016488A>G NM_006037.3:c.2265+218T>C:p.(=) pathogenicity:0.0 [0/1]; 2:240020717T>G NM_006037.3:c.2218+3755A>C:p.(=) pathogenicity:0.0 [1/1]; 2:240028660T>C NM_006037.3:c.2097+1086A>G:p.(=) pathogenicity:0.0 [./.]; 2:240028669T>C NM_006037.3:c.2097+1077A>G:p.(=) pathogenicity:0.0 [./.]; 2:240029736T>C NM_006037.3:c.2097+10A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240032319G>A NM_006037.3:c.1963+903C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240033685T>C NM_006037.3:c.1777-277A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240039119C>A NM_006037.3:c.1519-2113G>T:p.(=) pathogenicity:0.0 [1/1]; 2:240041048G>A NM_006037.3:c.1519-4042C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240041184A>G NM_006037.3:c.1519-4178T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240048027C>T NM_006037.3:c.1518+125G>A:p.(=) pathogenicity:0.0 [0/1]; 2:240055901G>A NM_006037.3:c.1294+40C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240061400C>T NM_006037.3:c.958G>A:p.(V320I) pathogenicity:0.9 [0/1]; 2:240063802G>T NM_006037.3:c.866-2310C>A:p.(=) pathogenicity:0.0 [./.]; 2:240065919T>C NM_006037.3:c.865+360A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240066417A>G NM_006037.3:c.734-7T>C:p.? pathogenicity:0.0 [1/1]; 2:240066526T>C NM_006037.3:c.734-116A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240067229G>A NM_006037.3:c.734-819C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240067231C>T NM_006037.3:c.734-821G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240067704A>G NM_006037.3:c.734-1294T>C:p.(=) pathogenicity:0.0 [./.]; 2:240069503C>A NM_006037.3:c.734-3093G>T:p.(=) pathogenicity:0.0 [./.]; 2:240070419A>G NM_006037.3:c.734-4009T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240074584A>G NM_006037.3:c.733+3764T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240084785T>TC NM_006037.3:c.611+713_611+714insG:p.(=) pathogenicity:0.0 [1/1]; 2:240085403C>A NM_006037.3:c.611+96G>T:p.(=) pathogenicity:0.0 [1/1]; 2:240088475G>A NM_006037.3:c.491-2856C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240092739G>A NM_006037.3:c.490+5370C>T:p.(=) pathogenicity:0.0 [./.]; 2:240092865CAAA>C NM_006037.3:c.490+5241_490+5243del:p.(=) pathogenicity:0.0 [1/1]; 2:240100263T>C NM_006037.3:c.340-2004A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240102871C>T NM_006037.3:c.340-4612G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240110777G>A NM_006037.3:c.339+752C>T:p.(=) pathogenicity:0.0 [./.]; 2:240111870CG>C NM_006037.3:c.95-98del:p.(=) pathogenicity:0.0 [0/1]; 2:240112972G>A NM_006037.3:c.95-1199C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240113365T>C NM_006037.3:c.95-1592A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240113374T>C NM_006037.3:c.95-1601A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240113394T>C NM_006037.3:c.95-1621A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240113436C>T NM_006037.3:c.95-1663G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240115701G>A NM_006037.3:c.95-3928C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240116841A>G NM_006037.3:c.95-5068T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240127416G>A NM_006037.3:c.95-15643C>T:p.(=) pathogenicity:0.0 [./.]; 2:240137886TTA>T NM_006037.3:c.94+20401_94+20402del:p.(=) pathogenicity:0.0 [1/1]; 2:240143872C>T NM_006037.3:c.94+14417G>A:p.(=) pathogenicity:0.0 [./.]; 2:240144903G>A NM_006037.3:c.94+13386C>T:p.(=) pathogenicity:0.0 [1/1]; 2:240144958C>A NM_006037.3:c.94+13331G>T:p.(=) pathogenicity:0.0 [1/1]; 2:240147224G>T NM_006037.3:c.94+11065C>A:p.(=) pathogenicity:0.0 [0/0]; 2:240148361T>TGGG NM_006037.3:c.94+9927_94+9928insCCC:p.(=) pathogenicity:0.0 [./.]; 2:240151759C>T NM_006037.3:c.94+6530G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240153158C>CG NM_006037.3:c.94+5130_94+5131insC:p.(=) pathogenicity:0.0 [./.]; 2:240153159A>G NM_006037.3:c.94+5130T>C:p.(=) pathogenicity:0.0 [./.]; 2:240176498T>A NM_006037.3:c.23-18138A>T:p.(=) pathogenicity:0.0 [1/1]; 2:240190926T>C NM_006037.3:c.23-32566A>G:p.(=) pathogenicity:0.0 [1/1]; 2:240198239A>C NM_006037.3:c.23-39879T>G:p.(=) pathogenicity:0.0 [1/1]; 2:240215819A>G NM_006037.3:c.23-57459T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240215984G>GTCCC NM_006037.3:c.23-57625_23-57624insGGGA:p.(=) pathogenicity:0.0 [1/1]; 2:240230131CAG>C NM_006037.3:c.22+44240_22+44241del:p.(=) pathogenicity:0.0 [./.]; 2:240241121C>T NM_006037.3:c.22+33252G>A:p.(=) pathogenicity:0.0 [1/1]; 2:240304863C>G NM_006037.3:c.-220+17208G>C:p.(=) pathogenicity:0.0 [1/1]; 2:240307801A>G NM_006037.3:c.-220+14270T>C:p.(=) pathogenicity:0.0 [1/1]; 2:240321793C>T NM_006037.3:c.-220+278G>A:p.(=) pathogenicity:0.0 [1/1]
71
+ 62 Pigmented nodular adrenocortical disease, primary, 2 OMIM:610475 1/8371 0.00% -8.158 NCBIGene:50940 2:178485698A>G NM_152275.3:: pathogenicity:0.0 [1/1]; 2:178487729T>G NM_152275.3:: pathogenicity:0.0 [1/1]; 2:178488281C>G NM_001077196.1:c.*5854G>C:p.(=) pathogenicity:0.0 [1/1]; 2:178488499A>AT NM_001077196.1:c.*5635_*5636insA:p.(=) pathogenicity:0.0 [1/1]; 2:178488988G>GTT NM_001077196.1:c.*5145_*5146dup:p.(=) pathogenicity:0.0 [0/1]; 2:178489264C>T NM_001077196.1:c.*4871G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178490341G>A NM_001077196.1:c.*3794C>T:p.(=) pathogenicity:0.0 [0/1]; 2:178491217G>A NM_001077196.1:c.*2918C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178491398C>T NM_001077196.1:c.*2737G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178491627CTT>C NM_001077196.1:c.*2506_*2507del:p.(=) pathogenicity:0.0 [./1]; 2:178491627CT>C NM_001077196.1:c.*2507del:p.(=) pathogenicity:0.0 [./1]; 2:178491939G>A NM_001077196.1:c.*2196C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178492403G>T NM_001077196.1:c.*1732C>A:p.(=) pathogenicity:0.0 [1/1]; 2:178492722C>T NM_001077196.1:c.*1413G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178492934T>C NM_001077196.1:c.*1201A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178493301G>T NM_001077196.1:c.*834C>A:p.(=) pathogenicity:0.0 [1/1]; 2:178493713A>G NM_001077196.1:c.*422T>C:p.(=) pathogenicity:0.0 [1/1]; 2:178493731G>A NM_001077196.1:c.*404C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178493770C>T NM_001077196.1:c.*365G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178494012C>G NM_001077196.1:c.*123G>C:p.(=) pathogenicity:0.0 [1/1]; 2:178494173G>GGGA NM_001077196.1:c.1429_1431dup:p.(S477dup) pathogenicity:0.0 [1/1]; 2:178494629G>A NM_001077196.1:c.1315-339C>T:p.(=) pathogenicity:0.0 [./.]; 2:178495858TTC>T NM_001077196.1:c.1315-1570_1315-1569del:p.(=) pathogenicity:0.0 [./.]; 2:178498625A>G NM_001077196.1:c.1315-4335T>C:p.(=) pathogenicity:0.0 [./.]; 2:178498746T>C NM_001077196.1:c.1315-4456A>G:p.(=) pathogenicity:0.0 [./.]; 2:178502353T>C NM_001077196.1:c.1315-8063A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178508739T>G NM_001077196.1:c.1315-14449A>C:p.(=) pathogenicity:0.0 [1/1]; 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2:178569850G>A NM_001077196.1:c.822-3911C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178569958G>GAA NM_001077196.1:c.822-4020_822-4019insTT:p.(=) pathogenicity:0.0 [1/1]; 2:178572964ATTT>A NM_001077196.1:c.821+3530_821+3532del:p.(=) pathogenicity:0.0 [./.]; 2:178573184A>G NM_001077196.1:c.821+3313T>C:p.(=) pathogenicity:0.0 [1/1]; 2:178581932T>A NM_001077196.1:c.712-5326A>T:p.(=) pathogenicity:0.0 [1/1]; 2:178602318C>CAA NM_001077196.1:c.457-9419_457-9418insTT:p.(=) pathogenicity:0.0 [1/1]; 2:178604789C>T NM_001077196.1:c.457-11889G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178605770C>A NM_001077196.1:c.457-12870G>T:p.(=) pathogenicity:0.0 [1/1]; 2:178609339A>G NM_001077196.1:c.457-16439T>C:p.(=) pathogenicity:0.0 [./.]; 2:178609340A>T NM_001077196.1:c.457-16440T>A:p.(=) pathogenicity:0.0 [./.]; 2:178611029C>T NM_001077196.1:c.457-18129G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178634113G>GA NM_001077196.1:c.406-13_406-12insT:p.(=) pathogenicity:0.0 [0/0]; 2:178635938C>A NM_001077196.1:c.406-1837G>T:p.(=) pathogenicity:0.0 [./.]; 2:178666729T>TC NM_001077196.1:c.405+14826_405+14827insG:p.(=) pathogenicity:0.0 [./.]; 2:178670144C>A NM_001077196.1:c.405+11412G>T:p.(=) pathogenicity:0.0 [1/1]; 2:178681447C>A NM_001077196.1:c.405+109G>T:p.(=) pathogenicity:0.0 [0/1]; 2:178681534C>T NM_001077196.1:c.405+22G>A:p.(=) pathogenicity:0.0 [0/1]; 2:178681716G>C NM_001077196.1:c.313-68C>G:p.(=) pathogenicity:0.0 [0/1]; 2:178682558A>ATATAAAC NM_001077196.1:c.312+26_312+27insGTTTATA:p.(=) pathogenicity:0.0 [0/1]; 2:178682603T>C NM_001077196.1:c.294A>G:p.(=) pathogenicity:0.0 [0/1]; 2:178682655A>G NM_001077196.1:c.245-3T>C:p.? pathogenicity:0.0 [0/1]; 2:178684595T>TTC NM_001077196.1:c.244+351_244+352insGA:p.(=) pathogenicity:0.0 [1/1]; 2:178684820G>A NM_001077196.1:c.244+127C>T:p.(=) pathogenicity:0.0 [0/0]; 2:178684878A>AAG NM_001077196.1:c.244+68_244+69insCT:p.(=) pathogenicity:0.0 [0/1]; 2:178684879T>G NM_001077196.1:c.244+68A>C:p.(=) pathogenicity:0.0 [0/1]; 2:178684921G>A NM_001077196.1:c.244+26C>T:p.(=) pathogenicity:0.0 [0/1]; 2:178685129C>T NM_001077196.1:c.169-107G>A:p.(=) pathogenicity:0.0 [0/1]; 2:178688938A>G NM_001077196.1:c.169-3916T>C:p.(=) pathogenicity:0.0 [1/1]; 2:178699894C>T NM_001077196.1:c.168+5084G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178705254G>A NM_001077196.1:c.36-144C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178714640T>C NM_001077196.1:c.36-9530A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178721558G>T NM_001077196.1:c.36-16448C>A:p.(=) pathogenicity:0.0 [1/1]; 2:178740622A>C NM_001077197.1:c.581T>G:p.(L194W) pathogenicity:1.0 [0/1]; 2:178759835T>C NM_001077197.1:c.552+2950A>G:p.(=) pathogenicity:0.0 [./.]; 2:178765494G>GA NM_001077197.1:c.412-2570_412-2569insT:p.(=) pathogenicity:0.0 [./.]; 2:178769982T>C NM_001077197.1:c.322-68A>G:p.(=) pathogenicity:0.0 [0/1]; 2:178769992T>C NM_001077197.1:c.322-78A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178770301G>A NM_001077197.1:c.322-387C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178774528A>AAT NM_001077197.1:c.322-4615_322-4614insAT:p.(=) pathogenicity:0.0 [./.]; 2:178775647T>C NM_001077197.1:c.322-5733A>G:p.(=) pathogenicity:0.0 [./.]; 2:178844943T>C NM_001077197.1:c.321+34086A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178845755G>C NM_001077197.1:c.321+33274C>G:p.(=) pathogenicity:0.0 [./.]; 2:178846901C>T NM_001077197.1:c.321+32128G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178859743T>C NM_001077197.1:c.321+19286A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178860377A>C NM_001077197.1:c.321+18652T>G:p.(=) pathogenicity:0.0 [1/1]; 2:178860910C>T NM_001077197.1:c.321+18119G>A:p.(=) pathogenicity:0.0 [0/0]; 2:178860958TAA>T NM_001077197.1:c.321+18069_321+18070del:p.(=) pathogenicity:0.0 [1/1]; 2:178861177T>C NM_001077197.1:c.321+17852A>G:p.(=) pathogenicity:0.0 [0/1]; 2:178861614A>G NM_001077197.1:c.321+17415T>C:p.(=) pathogenicity:0.0 [0/0]; 2:178861725C>T NM_001077197.1:c.321+17304G>A:p.(=) pathogenicity:0.0 [0/1]; 2:178861750T>C NM_001077197.1:c.321+17279A>G:p.(=) pathogenicity:0.0 [1/1]; 2:178862460A>C NM_001077197.1:c.321+16569T>G:p.(=) pathogenicity:0.0 [0/1]; 2:178862673C>T NM_001077197.1:c.321+16356G>A:p.(=) pathogenicity:0.0 [0/1]; 2:178863260G>A NM_001077197.1:c.321+15769C>T:p.(=) pathogenicity:0.0 [0/1]; 2:178864949G>GAAGA NM_001077197.1:c.321+14079_321+14080insTCTT:p.(=) pathogenicity:0.0 [1/1]; 2:178871550AGG>A NM_001077197.1:c.321+7477_321+7478del:p.(=) pathogenicity:0.0 [1/1]; 2:178871562G>A NM_001077197.1:c.321+7467C>T:p.(=) pathogenicity:0.0 [1/1]; 2:178878858C>A NM_001077197.1:c.321+171G>T:p.(=) pathogenicity:0.0 [./.]; 2:178918487C>A NM_001077197.1:c.163-39300G>T:p.(=) pathogenicity:0.0 [1/1]; 2:178919855A>C NM_001077197.1:c.163-40668T>G:p.(=) pathogenicity:0.0 [1/1]; 2:178935837C>T NM_001077197.1:c.162+33192G>A:p.(=) pathogenicity:0.0 [./.]; 2:178936373T>G NM_016953.3:c.792A>C:p.(=) pathogenicity:0.0 [1/1]; 2:178936614C>T NM_016953.3:c.551G>A:p.(R184Q) pathogenicity:0.0 [1/1]; 2:178938978G>T NM_001077197.1:c.162+30051C>A:p.(=) pathogenicity:0.0 [./.]; 2:178944307A>G NM_001077197.1:c.162+24722T>C:p.(=) pathogenicity:0.0 [./.]; 2:178952219A>T NM_001077197.1:c.162+16810T>A:p.(=) pathogenicity:0.0 [1/1]; 2:178958539G>T NM_001077197.1:c.162+10490C>A:p.(=) pathogenicity:0.0 [1/1]; 2:178958540C>T NM_001077197.1:c.162+10489G>A:p.(=) pathogenicity:0.0 [1/1]; 2:178958695AC>A NM_001077197.1:c.162+10333del:p.(=) pathogenicity:0.0 [1/1]; 2:178970575G>A NM_001077197.1:c.-13-1372C>T:p.(=) pathogenicity:0.0 [./.]; 2:178973118G>A XM_005246287.1:: pathogenicity:0.0 [0/1]
72
+ 63 Beare-Stevenson cutis gyrata syndrome OMIM:123790 1/8371 0.00% -8.159 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 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10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
73
+ 64 Renal tubular dysgenesis OMIM:267430 1/8371 0.00% -8.186 NCBIGene:1636 17:61529580A>G XM_005257092.1:: pathogenicity:0.0 [1/1]; 17:61543861T>C XM_005257092.1:: pathogenicity:0.0 [1/1]; 17:61548918C>T XM_005257092.1:: pathogenicity:0.0 [1/1]; 17:61548948C>A XM_005257092.1:: pathogenicity:0.0 [0/1]; 17:61556298C>G NM_000789.3:c.418-70C>G:p.(=) pathogenicity:0.0 [1/1]; 17:61556527A>G NM_000789.3:c.511+66A>G:p.(=) pathogenicity:0.0 [1/1]; 17:61559923C>T NM_000789.3:c.1215C>T:p.(=) pathogenicity:0.0 [1/1]; 17:61560763T>C NM_000789.3:c.1488-58T>C:p.(=) pathogenicity:0.0 [1/1]; 17:61561896G>A NM_000789.3:c.1915G>A:p.(G639S) pathogenicity:0.8 [0/1]; 17:61562309C>T NM_001178057.1:c.81C>T:p.(=) pathogenicity:0.0 [1/1]; 17:61562490A>AG NM_000789.3:c.1922-107_1922-106insG:p.(=) pathogenicity:0.0 [1/1]; 17:61562553G>A NM_000789.3:c.1922-44G>A:p.(=) pathogenicity:0.0 [1/1]; 17:61562774T>C NM_000789.3:c.2058+41T>C:p.(=) pathogenicity:0.0 [1/1]; 17:61563171A>G NM_000789.3:c.2058+438A>G:p.(=) pathogenicity:0.0 [1/1]; 17:61564052A>G NM_000789.3:c.2193A>G:p.(=) pathogenicity:0.0 [1/1]; 17:61564281T>C NM_000789.3:c.2218-66T>C:p.(=) pathogenicity:0.0 [1/1]; 17:61564522T>C NM_000789.3:c.2305+88T>C:p.(=) pathogenicity:0.0 [1/1]; 17:61565990G>C NM_000789.3:c.2306-19G>C:p.(=) pathogenicity:0.0 [1/1]; 17:61565998A>C NM_000789.3:c.2306-11A>C:p.(=) pathogenicity:0.0 [1/1]; 17:61566031G>A NM_000789.3:c.2328G>A:p.(=) pathogenicity:0.0 [1/1]; 17:61573761T>C NM_000789.3:c.3387T>C:p.(=) pathogenicity:0.0 [1/1]; 17:61574492G>A NM_000789.3:c.3692-6G>A:p.? pathogenicity:0.0 [1/1]; 17:61578048T>C NM_152830.2:: pathogenicity:0.0 [1/1]; 17:61578207G>A NM_152830.2:: pathogenicity:0.0 [1/1]; 17:61579937GA>G NM_152830.2:: pathogenicity:0.0 [./.]; 17:61581021C>CT NM_152830.2:: pathogenicity:0.0 [./.]; 17:61586549T>C NM_152830.2:: pathogenicity:0.0 [0/1]; 17:61595693C>T NM_152830.2:: pathogenicity:0.0 [1/1]
74
+ 65 Speech-language disorder-1 OMIM:602081 1/8371 0.00% -8.256 NCBIGene:93986 7:113574155T>G NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113577907CTTA>C NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113577958G>A NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113579588TA>T NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113583172T>A NM_002711.3:: pathogenicity:0.0 [./.]; 7:113586174C>G NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113586869C>G NM_002711.3:: pathogenicity:0.0 [./.]; 7:113586875C>T NM_002711.3:: pathogenicity:0.0 [./.]; 7:113591217A>C NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113591227G>A NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113602402G>A NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113603972G>T NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113607915A>G NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113607931A>T NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113615871G>A NM_002711.3:: pathogenicity:0.0 [./.]; 7:113642077CCAA>C NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113646099T>C NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113649618C>A NM_002711.3:: pathogenicity:0.0 [./.]; 7:113649625G>A NM_002711.3:: pathogenicity:0.0 [./.]; 7:113650147T>C NM_002711.3:: pathogenicity:0.0 [./.]; 7:113653693G>GGAA NM_002711.3:: pathogenicity:0.0 [./.]; 7:113662922C>T NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113679942A>G NM_002711.3:: pathogenicity:0.0 [./.]; 7:113686160T>C NM_002711.3:: pathogenicity:0.0 [1/1]; 7:113733767G>A NR_033766.1:n.302+7101G>A: pathogenicity:0.0 [1/1]; 7:113774021A>G NR_033766.1:n.302+47355A>G: pathogenicity:0.0 [1/1]; 7:113783536T>G NR_033766.1:n.302+56870T>G: pathogenicity:0.0 [1/1]; 7:113783541T>C NR_033766.1:n.302+56875T>C: pathogenicity:0.0 [1/1]; 7:113784618A>G NR_033766.1:n.302+57952A>G: pathogenicity:0.0 [1/1]; 7:113786361T>G NR_033766.1:n.302+59695T>G: pathogenicity:0.0 [./.]; 7:113825281G>GT NR_033766.1:n.302+98615_302+98616insT: pathogenicity:0.0 [1/1]; 7:113873159G>A NR_033766.1:n.303-54915G>A: pathogenicity:0.0 [1/1]; 7:113895259T>TG NR_033766.1:n.303-32815_303-32814insG: pathogenicity:0.0 [./.]; 7:113940809A>G NR_033766.1:n.393+12645A>G: pathogenicity:0.0 [./.]; 7:113954180A>G NR_033766.1:n.393+26016A>G: pathogenicity:0.0 [./.]; 7:114011594C>T NR_033766.1:n.394-54963C>T: pathogenicity:0.0 [1/1]; 7:114012603G>A NR_033766.1:n.394-53954G>A: pathogenicity:0.0 [1/1]; 7:114025485A>G NR_033766.1:n.394-41072A>G: pathogenicity:0.0 [1/1]; 7:114039169CT>C NR_033766.1:n.394-27387del: pathogenicity:0.0 [1/1]; 7:114102332G>GAAA NM_001172766.2:c.168+35598_168+35599insAAA:p.(=) pathogenicity:0.0 [1/1]; 7:114172466T>TC NM_001172766.2:c.169-2206_169-2205insC:p.(=) pathogenicity:0.0 [./.]; 7:114204298GT>G NM_001172766.2:c.258+29538del:p.(=) pathogenicity:0.0 [1/1]; 7:114210814T>C NM_001172766.2:c.258+36053T>C:p.(=) pathogenicity:0.0 [1/1]; 7:114269997ACAG>A NM_001172766.2:c.549_551del:p.(Q191del) pathogenicity:0.8 [0/1]; 7:114303491A>AT NM_001172766.2:c.1767-14_1767-13insT:p.(=) pathogenicity:0.0 [0/1]; 7:114303617CT>C NM_001172766.2:c.1836+44del:p.(=) pathogenicity:0.0 [0/1]; 7:114304563C>T NM_001172766.2:c.2000+72C>T:p.(=) pathogenicity:0.0 [0/1]; 7:114304630A>T NM_001172766.2:c.2000+139A>T:p.(=) pathogenicity:0.0 [0/1]; 7:114315686C>T NM_001172766.2:c.2000+11195C>T:p.(=) pathogenicity:0.0 [./.]; 7:114330184CTT>C NM_001172766.2:c.*219_*220del:p.(=) pathogenicity:0.0 [0/1]; 7:114343602T>C XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114348653T>G XR_242234.1:: pathogenicity:0.0 [./.]; 7:114351527A>G XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114352394C>G XR_242234.1:: pathogenicity:0.0 [0/1]; 7:114371252A>G XR_242234.1:: pathogenicity:0.0 [./.]; 7:114383049T>A XR_242234.1:: pathogenicity:0.0 [./.]; 7:114383056C>A XR_242234.1:: pathogenicity:0.0 [./.]; 7:114387761T>A XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114402551A>G XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114405945G>A XR_242234.1:: pathogenicity:0.0 [./.]; 7:114407567G>GA XR_242234.1:: pathogenicity:0.0 [./.]; 7:114414094G>A XR_242234.1:: pathogenicity:0.0 [./.]; 7:114429678T>C XR_242234.1:: pathogenicity:0.0 [./.]; 7:114433633GA>G XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114436380G>A XR_242234.1:: pathogenicity:0.0 [./.]; 7:114442336T>C XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114445234C>T XR_242234.1:: pathogenicity:0.0 [./.]; 7:114454794T>C XR_242234.1:: pathogenicity:0.0 [./.]; 7:114455431T>C XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114456358A>G XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114457275G>A XR_242234.1:: pathogenicity:0.0 [./.]; 7:114460320G>C XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114481937G>C XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114483251ACT>A XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114490661A>G XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114501142C>G XR_242234.1:: pathogenicity:0.0 [./.]; 7:114535159T>C XR_242234.1:: pathogenicity:0.0 [1/1]; 7:114535721C>G XR_242234.1:: pathogenicity:0.0 [1/1]
75
+ 66 Spinocerebellar ataxia, autosomal recessive 7 OMIM:609270 1/8371 0.00% -8.285 NCBIGene:1200 11:6636300A>G NM_000391.3:c.1426-78T>C:p.(=) pathogenicity:0.0 [0/1]; 11:6636900G>C NM_000391.3:c.1146-107C>G:p.(=) pathogenicity:0.0 [0/1]; 11:6637518A>G NM_000391.3:c.1075+28T>C:p.(=) pathogenicity:0.0 [1/1]; 11:6637739ATT>A NM_000391.3:c.887-7_887-6del:p.? pathogenicity:0.0 [0/1]; 11:6638385C>T NM_000391.3:c.509-1G>A:p.? pathogenicity:1.0 [0/1]; 11:6638506A>T NM_000391.3:c.508+26T>A:p.(=) pathogenicity:0.0 [0/1]; 11:6639351T>C NM_000391.3:c.230-344A>G:p.(=) pathogenicity:0.0 [1/1]
76
+ 67 Adams-Oliver syndrome 6 OMIM:616589 1/8371 0.00% -8.345 NCBIGene:54567 15:41201150A>G NM_020857.2:: pathogenicity:0.0 [1/1]; 15:41202595CTTTT>C NM_019074.3:: pathogenicity:0.0 [0/1]; 15:41205853T>C NM_019074.3:: pathogenicity:0.0 [1/1]; 15:41210620C>G NM_019074.3:: pathogenicity:0.0 [1/1]; 15:41212062C>A NM_019074.3:: pathogenicity:0.0 [1/1]; 15:41215175G>A NM_019074.3:: pathogenicity:0.0 [1/1]; 15:41215181G>T NM_019074.3:: pathogenicity:0.0 [1/1]; 15:41224280G>T NM_019074.3:c.659-89G>T:p.(=) pathogenicity:0.0 [1/1]; 15:41229631T>G NM_019074.3:c.1959T>G:p.(C653W) pathogenicity:1.0 [0/1]; 15:41231131GT>G NM_019074.3:c.*916del:p.(=) pathogenicity:0.0 [0/1]; 15:41239324AAAGT>A NM_019074.3:: pathogenicity:0.0 [1/1]; 15:41242902T>A NM_024111.3:: pathogenicity:0.0 [1/1]
77
+ 68 Angioedema, hereditary, 4 OMIM:619360 1/8371 0.00% -8.368 NCBIGene:5340 6:161100557G>T XM_005266985.1:: pathogenicity:0.0 [1/1]; 6:161100558C>T XM_005266985.1:: pathogenicity:0.0 [1/1]; 6:161122931G>A NM_001168338.1:: pathogenicity:0.0 [0/1]; 6:161123158G>T NM_001168338.1:: pathogenicity:0.0 [0/1]; 6:161123185T>C NM_001168338.1:: pathogenicity:0.0 [0/1]; 6:161123413G>T NM_000301.3:c.49+28G>T:p.(=) pathogenicity:0.0 [0/1]; 6:161123842C>A NM_000301.3:c.49+457C>A:p.(=) pathogenicity:0.0 [0/0]; 6:161127501A>G NM_000301.3:c.112A>G:p.(K38E) pathogenicity:0.8 [0/1]; 6:161128922A>G NM_000301.3:c.292+84A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161129013G>A NM_000301.3:c.292+175G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161132146C>T NM_000301.3:c.330C>T:p.(=) pathogenicity:0.0 [1/1]; 6:161132417T>G NM_000301.3:c.407+194T>G:p.(=) pathogenicity:0.0 [1/1]; 6:161132725T>C NM_000301.3:c.407+502T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161132804T>C NM_000301.3:c.407+581T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161132830G>A NM_000301.3:c.407+607G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161133125G>C NM_000301.3:c.408-893G>C:p.(=) pathogenicity:0.0 [./.]; 6:161134273C>G NM_000301.3:c.547+116C>G:p.(=) pathogenicity:0.0 [1/1]; 6:161135667CTTATTGCCAATT>C NM_000301.3:c.548-158_548-147del:p.(=) pathogenicity:0.0 [1/1]; 6:161137663T>G NM_000301.3:c.669-14T>G:p.(=) pathogenicity:0.0 [1/1]; 6:161139857A>G NM_000301.3:c.1083A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161143608T>C NM_000301.3:c.1256+9T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161152240G>A NM_000301.3:c.1414G>A:p.(D472N) pathogenicity:0.0 [1/1]; 6:161152294A>G NM_000301.3:c.1438+30A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161153080A>C NM_000301.3:c.1587+155A>C:p.(=) pathogenicity:0.0 [1/1]; 6:161156296C>T NM_000301.3:c.1681+1176C>T:p.(=) pathogenicity:0.0 [1/1]; 6:161158998C>CA NM_000301.3:c.1803-572_1803-571insA:p.(=) pathogenicity:0.0 [1/1]; 6:161159001T>A NM_000301.3:c.1803-569T>A:p.(=) pathogenicity:0.0 [1/1]; 6:161159006T>C NM_000301.3:c.1803-564T>C:p.(=) pathogenicity:0.0 [1/1]; 6:161159016A>G NM_000301.3:c.1803-554A>G:p.(=) pathogenicity:0.0 [1/1]; 6:161160083G>A NM_000301.3:c.1878-17G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161174658G>A NM_000301.3:c.*565G>A:p.(=) pathogenicity:0.0 [1/1]; 6:161175004C>T NM_000301.3:c.*911C>T:p.(=) pathogenicity:0.0 [1/1]; 6:161204811T>TGA XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161240761C>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161268900G>GA XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161316375G>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161318736C>A XR_245517.1:: pathogenicity:0.0 [./.]; 6:161318811A>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161319046T>A XR_245517.1:: pathogenicity:0.0 [./.]; 6:161319183C>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161319568ATT>A XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161319570T>TAGAAA XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161319572C>CAGGAGAA XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161319573T>A XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161321103A>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161321552C>A XR_245517.1:: pathogenicity:0.0 [0/1]; 6:161337411A>T XR_245517.1:: pathogenicity:0.0 [./.]; 6:161343052T>G XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161353662T>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161398072CAAA>C XR_245517.1:: pathogenicity:0.0 [1/1]; 6:161410588CAA>C XR_245517.1:: pathogenicity:0.0 [./.]
78
+ 69 Spastic paraplegia 48, autosomal recessive OMIM:613647 1/8371 0.00% -8.403 NCBIGene:9907 7:4817287C>A NM_014855.2:c.41+1900C>A:p.(=) pathogenicity:0.0 [1/1]; 7:4825245C>A NM_014855.2:c.1062C>A:p.(H354Q) pathogenicity:0.9 [0/1]; 7:4827637G>A NM_014855.2:c.1455-148G>A:p.(=) pathogenicity:0.0 [0/0]
79
+ 70 Nicolaides-Baraitser syndrome OMIM:601358 1/8371 0.00% -8.427 NCBIGene:6595 9:1486723G>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1505702G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1505704A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1517205G>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1530170T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1533937G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1533965T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1546425C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1550919T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1554811C>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1555134C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1556594G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1557214C>CA NM_139045.2:: pathogenicity:0.0 [0/1]; 9:1558597C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1558598A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1576103T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1577505T>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1578770G>GAC NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1579445TAGAG>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1580060G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1582511G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1582525A>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1582679C>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1582701A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1588429A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1594205T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1598874G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1598885A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1601438C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1605359T>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1605367C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1606680G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1610861A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1611984C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1614989C>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1615065A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1619944A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1625446T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1625756C>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1633319T>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1634740T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1636875G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1671726G>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1689298T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1702401A>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1711577A>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1711705G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1716479T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1717597A>C NM_139045.2:: pathogenicity:0.0 [0/1]; 9:1717627T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1717674T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1717960G>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1718324A>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718433A>AG NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718436A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718496G>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718536T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718830A>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718978A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1719049G>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1719130G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1723451G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1723453T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1732319C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1734768T>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1734814G>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1792095A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1885261A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1894067G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1909883G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1928054C>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1975279G>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1976239G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1980819C>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980882GC>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980918T>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980947T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980949C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:2006089T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:2021158G>C NM_003070.3:c.-37+5754G>C:p.(=) pathogenicity:0.0 [./.]; 9:2022988C>G NM_003070.3:c.-36-5999C>G:p.(=) pathogenicity:0.0 [./.]; 9:2023316T>C NM_003070.3:c.-36-5671T>C:p.(=) pathogenicity:0.0 [./.]; 9:2027563T>G NM_003070.3:c.-36-1424T>G:p.(=) pathogenicity:0.0 [1/1]; 9:2028942A>G NM_003070.3:c.-36-45A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2029199G>A NM_003070.3:c.177G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2032829T>C NM_003070.3:c.226-123T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2032845G>A NM_003070.3:c.226-107G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2039776ACAG>A NM_003070.3:c.705_707del:p.(Q238del) pathogenicity:0.0 [1/1]; 9:2039973C>T NM_003070.3:c.790+73C>T:p.(=) pathogenicity:0.0 [1/1]; 9:2039983A>C NM_003070.3:c.790+83A>C:p.(=) pathogenicity:0.0 [1/1]; 9:2052014C>T NM_003070.3:c.1047-2583C>T:p.(=) pathogenicity:0.0 [1/1]; 9:2054409C>T NM_003070.3:c.1047-188C>T:p.(=) pathogenicity:0.0 [0/1]; 9:2056563G>A NM_003070.3:c.1174-109G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2058133T>C NM_003070.3:c.1348-158T>C:p.(=) pathogenicity:0.0 [0/0]; 9:2060768T>C NM_003070.3:c.1522-48T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2073514A>T NM_003070.3:c.1878-52A>T:p.(=) pathogenicity:0.0 [0/1]; 9:2073708G>T NM_003070.3:c.1935+85G>T:p.(=) pathogenicity:0.0 [0/1]; 9:2076174A>T NM_003070.3:c.1936-55A>T:p.(=) pathogenicity:0.0 [0/1]; 9:2077875T>C NM_003070.3:c.2184+99T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2077888A>G NM_003070.3:c.2184+112A>G:p.(=) pathogenicity:0.0 [0/1]; 9:2086804G>A NM_003070.3:c.2527-25G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2095374G>A NM_003070.3:c.2884-1283G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2095434T>C NM_003070.3:c.2884-1223T>C:p.(=) pathogenicity:0.0 [1/1]; 9:2096706A>T NM_003070.3:c.2933A>T:p.(Y978F) pathogenicity:1.0 [0/1]; 9:2096774G>A NM_003070.3:c.2991+10G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2097548GA>G NM_003070.3:c.3078+78del:p.(=) pathogenicity:0.0 [0/1]; 9:2097585C>T NM_003070.3:c.3078+114C>T:p.(=) pathogenicity:0.0 [0/1]; 9:2101434G>A NM_003070.3:c.3079-136G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2101545T>A NM_003070.3:c.3079-25T>A:p.(=) pathogenicity:0.0 [0/1]; 9:2103950T>C NM_003070.3:c.3126-53T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2110581A>G NM_003070.3:c.3456+164A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2120825G>A NM_003070.3:c.3762+1290G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2122780T>C NM_003070.3:c.3763-939T>C:p.(=) pathogenicity:0.0 [./.]; 9:2123420A>T NM_003070.3:c.3763-299A>T:p.(=) pathogenicity:0.0 [0/0]; 9:2123435G>A NM_003070.3:c.3763-284G>A:p.(=) pathogenicity:0.0 [0/0]; 9:2123523A>G NM_003070.3:c.3763-196A>G:p.(=) pathogenicity:0.0 [0/1]; 9:2123531G>A NM_003070.3:c.3763-188G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2125489CTTT>C NM_003070.3:c.3981+1553_3981+1555del:p.(=) pathogenicity:0.0 [1/1]; 9:2128398C>G NM_003070.3:c.3981+4461C>G:p.(=) pathogenicity:0.0 [1/1]; 9:2133189A>G NM_003070.3:c.3981+9252A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2133775C>T NM_003070.3:c.3981+9838C>T:p.(=) pathogenicity:0.0 [./.]; 9:2136142T>C NM_003070.3:c.3981+12205T>C:p.(=) pathogenicity:0.0 [./.]; 9:2137351T>A NM_003070.3:c.3981+13414T>A:p.(=) pathogenicity:0.0 [1/1]; 9:2138752A>T NM_003070.3:c.3981+14815A>T:p.(=) pathogenicity:0.0 [1/1]; 9:2139360T>G NM_003070.3:c.3981+15423T>G:p.(=) pathogenicity:0.0 [1/1]; 9:2141192TA>T NM_003070.3:c.3981+17256del:p.(=) pathogenicity:0.0 [./.]; 9:2141969C>G NM_003070.3:c.3981+18032C>G:p.(=) pathogenicity:0.0 [./.]; 9:2144373T>G NM_003070.3:c.3982-17313T>G:p.(=) pathogenicity:0.0 [1/1]; 9:2146675C>T NM_003070.3:c.3982-15011C>T:p.(=) pathogenicity:0.0 [./.]; 9:2150862G>A NM_003070.3:c.3982-10824G>A:p.(=) pathogenicity:0.0 [./.]; 9:2154284GGTA>G NM_003070.3:c.3982-7401_3982-7399del:p.(=) pathogenicity:0.0 [./.]; 9:2169179C>A NM_003070.3:c.4200-1240C>A:p.(=) pathogenicity:0.0 [./.]; 9:2170512G>C NM_003070.3:c.4253+40G>C:p.(=) pathogenicity:0.0 [0/1]; 9:2171906G>T NM_003070.3:c.4253+1434G>T:p.(=) pathogenicity:0.0 [1/1]; 9:2175247G>A NM_003070.3:c.4253+4775G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2182062A>G NM_003070.3:c.4360-79A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2183634CAA>C NM_003070.3:c.4461+1393_4461+1394del:p.(=) pathogenicity:0.0 [1/1]; 9:2183638G>GGA NM_003070.3:c.4461+1396_4461+1397insGA:p.(=) pathogenicity:0.0 [1/1]; 9:2186460T>C NM_003070.3:c.4594+232T>C:p.(=) pathogenicity:0.0 [1/1]; 9:2188759T>G NM_003070.3:c.4595-2507T>G:p.(=) pathogenicity:0.0 [./.]; 9:2194227C>T XM_005251557.1:: pathogenicity:0.0 [./.]; 9:2195846G>A XM_005251557.1:: pathogenicity:0.0 [1/1]; 9:2209976A>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2210010T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2229243A>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2229335T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2229436A>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2231188A>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2234367A>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2239137C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2245401G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2245417A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2249520AT>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2249523CACCCGCTG>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2259054A>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2309351G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2312205C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2325765C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2336621C>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2340935A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2340963C>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2341000T>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2347194C>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2373534T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2373544G>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2383439G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2394021T>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2394539C>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2409349A>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2413100GTCTT>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2427960A>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2435075A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2435209A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2439310G>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2439864T>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2448235G>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2448244G>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2451856T>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2459493GA>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2483942C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2484013T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2488261T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2496009T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2496480T>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2497314G>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2497738C>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2502873G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2509601G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2511920T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2511948T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2511952G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512222C>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512225G>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512309T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512313T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512324G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512328G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2513426G>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2518927G>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2519035A>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2531488G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2531629C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2531967A>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2531983A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2535501C>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2535524C>T NR_015375.1:: pathogenicity:0.0 [0/1]; 9:2535566A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2535574G>A NR_015375.1:: pathogenicity:0.0 [0/1]
80
+ 71 Familial scaphocephaly syndrome, Mcgillivray type OMIM:609579 1/8371 0.00% -8.439 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
81
+ 72 Immunodeficiency 48 OMIM:269840 1/8371 0.00% -8.442 NCBIGene:7535 2:98321905C>A NR_038386.1:: pathogenicity:0.0 [./.]; 2:98329043T>C NM_001079.3:: pathogenicity:0.0 [1/1]; 2:98329047T>G NM_001079.3:: pathogenicity:0.0 [1/1]; 2:98330218A>G NM_001079.3:c.-101+81A>G:p.(=) pathogenicity:0.0 [1/1]; 2:98334450A>G NM_001079.3:c.-22+3993A>G:p.(=) pathogenicity:0.0 [./.]; 2:98340364A>C NM_001079.3:c.-21-115A>C:p.(=) pathogenicity:0.0 [1/1]; 2:98355838G>T NM_001079.3:c.1737G>T:p.(K579N) pathogenicity:1.0 [0/1]; 2:98365250G>A NM_015348.1:: pathogenicity:0.0 [1/1]
82
+ 73 Cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 1/8371 0.00% -8.51 NCBIGene:545 3:142168331C>T NM_001184.3:c.7875G>A:p.(=) pathogenicity:0.0 [1/1]; 3:142169199A>AG NM_001184.3:c.7762-756_7762-755insC:p.(=) pathogenicity:0.0 [0/1]; 3:142178144C>T NM_001184.3:c.7274G>A:p.(R2425Q) pathogenicity:0.0 [0/1]; 3:142181316C>CT NM_001184.3:c.7042-385_7042-384insA:p.(=) pathogenicity:0.0 [1/1]; 3:142184163TA>T NM_001184.3:c.6898-82del:p.(=) pathogenicity:0.0 [0/1]; 3:142188337A>C NM_001184.3:c.6394T>G:p.(Y2132D) pathogenicity:0.8 [0/1]; 3:142204634C>T NM_001184.3:c.6079-510G>A:p.(=) pathogenicity:0.0 [0/1]; 3:142204728C>T NM_001184.3:c.6079-604G>A:p.(=) pathogenicity:0.0 [1/1]; 3:142217537A>G NM_001184.3:c.5460T>C:p.(=) pathogenicity:0.0 [0/1]; 3:142217727CT>C NM_001184.3:c.5381-112del:p.(=) pathogenicity:0.0 [0/1]; 3:142221956A>G NM_001184.3:c.5288+248T>C:p.(=) pathogenicity:0.0 [1/1]; 3:142239055A>G NM_001184.3:c.4267-429T>C:p.(=) pathogenicity:0.0 [0/0]; 3:142241692G>GA NM_001184.3:c.4153-10_4153-9insT:p.(=) pathogenicity:0.0 [0/1]; 3:142255090T>C NM_001184.3:c.3726-47A>G:p.(=) pathogenicity:0.0 [0/1]; 3:142259706CA>C NM_001184.3:c.3581+39del:p.(=) pathogenicity:0.0 [0/1]; 3:142270950G>GT NM_001184.3:c.2805+1118_2805+1119insA:p.(=) pathogenicity:0.0 [./.]; 3:142272314G>A NM_001184.3:c.2634-74C>T:p.(=) pathogenicity:0.0 [0/1]; 3:142277423GATAA>G NM_001184.3:c.1885+39_1885+42del:p.(=) pathogenicity:0.0 [0/1]; 3:142277575A>T NM_001184.3:c.1776T>A:p.(=) pathogenicity:0.0 [0/1]; 3:142279796T>C NM_001184.3:c.1349+289A>G:p.(=) pathogenicity:0.0 [0/0]; 3:142281612A>G NM_001184.3:c.632T>C:p.(M211T) pathogenicity:0.0 [0/1]; 3:142304543T>C NM_001145319.1:: pathogenicity:0.0 [1/1]; 3:142315074G>A NM_001145319.1:: pathogenicity:0.0 [0/1]; 3:142315114C>A NM_001145319.1:: pathogenicity:0.0 [0/1]
83
+ 74 Calcification of joints and arteries OMIM:211800 1/8371 0.00% -8.516 NCBIGene:4907 6:86137741A>G XR_241868.1:: pathogenicity:0.0 [./.]; 6:86138488T>G XR_241868.1:: pathogenicity:0.0 [./.]; 6:86148903A>G XR_241868.1:: pathogenicity:0.0 [1/1]; 6:86159143A>G NM_002526.3:: pathogenicity:0.0 [1/1]; 6:86175892C>A NM_001204813.1:c.340-886C>A:p.(=) pathogenicity:0.0 [0/1]; 6:86180926A>G NM_001204813.1:c.563-29A>G:p.(=) pathogenicity:0.0 [0/1]; 6:86199162TAAGG>T NM_001204813.1:c.1105-49_1105-46del:p.(=) pathogenicity:0.0 [0/1]; 6:86199233A>G NM_001204813.1:c.1126A>G:p.(T376A) pathogenicity:0.0 [1/1]; 6:86199329G>C NM_001204813.1:c.1210+12G>C:p.(=) pathogenicity:0.0 [1/1]; 6:86200277T>A NM_002526.3:c.1262T>A:p.(F421Y) pathogenicity:1.0 [0/1]; 6:86205323T>G NM_001204813.1:c.*1601T>G:p.(=) pathogenicity:0.0 [1/1]; 6:86207947TG>T NM_001204813.1:: pathogenicity:0.0 [0/0]; 6:86210162C>T NM_001204813.1:: pathogenicity:0.0 [1/1]; 6:86212026T>C NM_020468.3:: pathogenicity:0.0 [1/1]
84
+ 75 Dyskeratosis congenita, autosomal recessive, 2 OMIM:613987 1/8371 0.00% -8.61 NCBIGene:55651 5:177580349A>T NM_001034833.1:c.230+143T>A:p.(=) pathogenicity:0.0 [0/1]; 5:177580532C>T NM_001034833.1:c.190G>A:p.(V64M) pathogenicity:1.0 [0/1]; 5:177581346G>T NM_017838.3:: pathogenicity:0.0 [./.]; 5:177591776G>A NM_017838.3:: pathogenicity:0.0 [0/1]; 5:177611377GA>G NR_003281.1:: pathogenicity:0.0 [0/1]
85
+ 76 Eiken syndrome OMIM:600002 1/8371 0.00% -8.637 NCBIGene:5745 3:46910618A>C NM_000258.2:: pathogenicity:0.0 [./.]; 3:46915059C>T NM_000316.2:: pathogenicity:0.0 [0/1]; 3:46933266G>T NM_000316.2:c.76-2131G>T:p.(=) pathogenicity:0.0 [./.]; 3:46938247A>C NM_000316.2:c.313+888A>C:p.(=) pathogenicity:0.0 [1/1]; 3:46939588G>A NM_000316.2:c.449G>A:p.(R150H) pathogenicity:0.8 [0/1]; 3:46941116A>G NM_000316.2:c.988+170A>G:p.(=) pathogenicity:0.0 [1/1]; 3:46943028T>C NM_000316.2:c.1116+58T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46944274T>C NM_000316.2:c.1389T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46945263G>GA NM_000316.2:c.*127dup:p.(=) pathogenicity:0.0 [1/1]; 3:46947087T>A XM_005265343.1:: pathogenicity:0.0 [1/1]; 3:46949379G>A XM_005265343.1:: pathogenicity:0.0 [./.]; 3:46957298G>A NR_102269.1:: pathogenicity:0.0 [1/1]
86
+ 77 Erythrokeratodermia variabilis et progressiva 3 OMIM:617525 1/8371 0.00% -8.638 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
87
+ 78 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM:616738 1/8371 0.00% -8.712 NCBIGene:2122 3:168689566GATA>G XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168697717G>A XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168698132G>A XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168700590C>T XR_108509.2:: pathogenicity:0.0 [./.]; 3:168703053C>G XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168712782T>C XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168731617G>A XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168734333C>T XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168771114G>T XR_108509.2:: pathogenicity:0.0 [./.]; 3:168774943C>G XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168779331G>C XR_108509.2:: pathogenicity:0.0 [./.]; 3:168785079C>T XR_108509.2:: pathogenicity:0.0 [1/1]; 3:168797063C>A NM_001105077.3:: pathogenicity:0.0 [1/1]; 3:168801213G>GC NM_001105077.3:: pathogenicity:0.0 [1/1]; 3:168801495C>A NM_001105077.3:c.*1202G>T:p.(=) pathogenicity:0.0 [1/1]; 3:168815099T>C NM_001105077.3:c.2481-2066A>G:p.(=) pathogenicity:0.0 [./.]; 3:168818560C>T NM_001105077.3:c.2480+113G>A:p.(=) pathogenicity:0.0 [1/1]; 3:168819788A>G NM_001105077.3:c.2402+60T>C:p.(=) pathogenicity:0.0 [1/1]; 3:168825911T>C NM_001105077.3:c.2209-171A>G:p.(=) pathogenicity:0.0 [./.]; 3:168839264G>A NM_001105077.3:c.607-264C>T:p.(=) pathogenicity:0.0 [./.]; 3:168840462T>C NM_001105077.3:c.512A>G:p.(Q171R) pathogenicity:0.9 [0/1]; 3:168840571A>T NM_001105077.3:c.459-56T>A:p.(=) pathogenicity:0.0 [1/1]; 3:168840607C>T NM_001105077.3:c.459-92G>A:p.(=) pathogenicity:0.0 [1/1]; 3:168848579A>G NM_001105077.3:c.241+638T>C:p.(=) pathogenicity:0.0 [1/1]; 3:168862967CACACACACACAGAG>C NM_004991.3:c.376-1361_376-1348del:p.(=) pathogenicity:0.0 [1/1]; 3:168863993G>GA NM_004991.3:c.376-2374_376-2373insT:p.(=) pathogenicity:0.0 [0/1]; 3:168864538C>G NM_004991.3:c.376-2918G>C:p.(=) pathogenicity:0.0 [0/1]; 3:168864550T>A NM_004991.3:c.376-2930A>T:p.(=) pathogenicity:0.0 [1/1]; 3:168864643A>C NM_004991.3:c.376-3023T>G:p.(=) pathogenicity:0.0 [1/1]; 3:168865503G>GGT NM_004991.3:c.376-3884_376-3883insAC:p.(=) pathogenicity:0.0 [0/1]; 3:168882534TA>T NM_004991.3:c.376-20915del:p.(=) pathogenicity:0.0 [./.]; 3:168882538C>G NM_004991.3:c.376-20918G>C:p.(=) pathogenicity:0.0 [./.]; 3:168893931CA>C NM_004991.3:c.376-32312del:p.(=) pathogenicity:0.0 [1/1]; 3:168917282G>A NM_004991.3:c.376-55662C>T:p.(=) pathogenicity:0.0 [./.]; 3:168935870C>T NM_004991.3:c.376-74250G>A:p.(=) pathogenicity:0.0 [./.]; 3:169099907T>C NM_004991.3:c.38-595A>G:p.(=) pathogenicity:0.0 [1/1]; 3:169102689G>A NM_004991.3:c.38-3377C>T:p.(=) pathogenicity:0.0 [1/1]; 3:169177556A>AC NM_004991.3:c.38-78245_38-78244insG:p.(=) pathogenicity:0.0 [1/1]; 3:169194832G>A NM_004991.3:c.38-95520C>T:p.(=) pathogenicity:0.0 [1/1]; 3:169196390A>T NM_004991.3:c.38-97078T>A:p.(=) pathogenicity:0.0 [./.]; 3:169196398C>A NM_004991.3:c.38-97086G>T:p.(=) pathogenicity:0.0 [./.]; 3:169200812T>G NM_004991.3:c.38-101500A>C:p.(=) pathogenicity:0.0 [1/1]; 3:169200927G>A NM_004991.3:c.38-101615C>T:p.(=) pathogenicity:0.0 [0/1]; 3:169200968C>A NM_004991.3:c.38-101656G>T:p.(=) pathogenicity:0.0 [0/1]; 3:169200990ATTTTTT>A NM_004991.3:c.38-101684_38-101679del:p.(=) pathogenicity:0.0 [0/1]; 3:169201002T>A NM_004991.3:c.38-101690A>T:p.(=) pathogenicity:0.0 [0/1]; 3:169201287A>C NM_004991.3:c.38-101975T>G:p.(=) pathogenicity:0.0 [0/1]; 3:169202626T>C NM_004991.3:c.38-103314A>G:p.(=) pathogenicity:0.0 [1/1]; 3:169211037A>T NM_004991.3:c.38-111725T>A:p.(=) pathogenicity:0.0 [1/1]; 3:169217406G>GA NM_004991.3:c.38-118095_38-118094insT:p.(=) pathogenicity:0.0 [./.]; 3:169220211T>A NM_004991.3:c.38-120899A>T:p.(=) pathogenicity:0.0 [1/1]; 3:169283495T>C NM_004991.3:c.37+97629A>G:p.(=) pathogenicity:0.0 [1/1]; 3:169298006G>T NM_004991.3:c.37+83118C>A:p.(=) pathogenicity:0.0 [1/1]; 3:169307917A>G NM_004991.3:c.37+73207T>C:p.(=) pathogenicity:0.0 [1/1]; 3:169324196CAAA>C NM_004991.3:c.37+56925_37+56927del:p.(=) pathogenicity:0.0 [1/1]; 3:169325569C>T NM_004991.3:c.37+55555G>A:p.(=) pathogenicity:0.0 [1/1]; 3:169325570A>G NM_004991.3:c.37+55554T>C:p.(=) pathogenicity:0.0 [1/1]; 3:169325573C>T NM_004991.3:c.37+55551G>A:p.(=) pathogenicity:0.0 [1/1]; 3:169332833G>T NM_004991.3:c.37+48291C>A:p.(=) pathogenicity:0.0 [1/1]; 3:169356787CTGTT>C NM_004991.3:c.37+24333_37+24336del:p.(=) pathogenicity:0.0 [0/1]; 3:169471979AGT>A NM_001205194.1:: pathogenicity:0.0 [./.]
88
+ 79 Blepharophimosis-impaired intellectual development syndrome OMIM:619293 1/8371 0.00% -8.722 NCBIGene:6595 9:1486723G>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1505702G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1505704A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1517205G>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1530170T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1533937G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1533965T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1546425C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1550919T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1554811C>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1555134C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1556594G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1557214C>CA NM_139045.2:: pathogenicity:0.0 [0/1]; 9:1558597C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1558598A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1576103T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1577505T>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1578770G>GAC NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1579445TAGAG>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1580060G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1582511G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1582525A>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1582679C>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1582701A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1588429A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1594205T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1598874G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1598885A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1601438C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1605359T>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1605367C>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1606680G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1610861A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1611984C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1614989C>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1615065A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1619944A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1625446T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1625756C>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1633319T>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1634740T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1636875G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1671726G>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1689298T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1702401A>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1711577A>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1711705G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1716479T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1717597A>C NM_139045.2:: pathogenicity:0.0 [0/1]; 9:1717627T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1717674T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1717960G>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1718324A>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718433A>AG NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718436A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718496G>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718536T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718830A>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1718978A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1719049G>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1719130G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1723451G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1723453T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1732319C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1734768T>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1734814G>C NM_139045.2:: pathogenicity:0.0 [./.]; 9:1792095A>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1885261A>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1894067G>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1909883G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1928054C>G NM_139045.2:: pathogenicity:0.0 [./.]; 9:1975279G>A NM_139045.2:: pathogenicity:0.0 [./.]; 9:1976239G>T NM_139045.2:: pathogenicity:0.0 [./.]; 9:1980819C>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980882GC>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980918T>G NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980947T>A NM_139045.2:: pathogenicity:0.0 [1/1]; 9:1980949C>T NM_139045.2:: pathogenicity:0.0 [1/1]; 9:2006089T>C NM_139045.2:: pathogenicity:0.0 [1/1]; 9:2021158G>C NM_003070.3:c.-37+5754G>C:p.(=) pathogenicity:0.0 [./.]; 9:2022988C>G NM_003070.3:c.-36-5999C>G:p.(=) pathogenicity:0.0 [./.]; 9:2023316T>C NM_003070.3:c.-36-5671T>C:p.(=) pathogenicity:0.0 [./.]; 9:2027563T>G NM_003070.3:c.-36-1424T>G:p.(=) pathogenicity:0.0 [1/1]; 9:2028942A>G NM_003070.3:c.-36-45A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2029199G>A NM_003070.3:c.177G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2032829T>C NM_003070.3:c.226-123T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2032845G>A NM_003070.3:c.226-107G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2039776ACAG>A NM_003070.3:c.705_707del:p.(Q238del) pathogenicity:0.0 [1/1]; 9:2039973C>T NM_003070.3:c.790+73C>T:p.(=) pathogenicity:0.0 [1/1]; 9:2039983A>C NM_003070.3:c.790+83A>C:p.(=) pathogenicity:0.0 [1/1]; 9:2052014C>T NM_003070.3:c.1047-2583C>T:p.(=) pathogenicity:0.0 [1/1]; 9:2054409C>T NM_003070.3:c.1047-188C>T:p.(=) pathogenicity:0.0 [0/1]; 9:2056563G>A NM_003070.3:c.1174-109G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2058133T>C NM_003070.3:c.1348-158T>C:p.(=) pathogenicity:0.0 [0/0]; 9:2060768T>C NM_003070.3:c.1522-48T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2073514A>T NM_003070.3:c.1878-52A>T:p.(=) pathogenicity:0.0 [0/1]; 9:2073708G>T NM_003070.3:c.1935+85G>T:p.(=) pathogenicity:0.0 [0/1]; 9:2076174A>T NM_003070.3:c.1936-55A>T:p.(=) pathogenicity:0.0 [0/1]; 9:2077875T>C NM_003070.3:c.2184+99T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2077888A>G NM_003070.3:c.2184+112A>G:p.(=) pathogenicity:0.0 [0/1]; 9:2086804G>A NM_003070.3:c.2527-25G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2095374G>A NM_003070.3:c.2884-1283G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2095434T>C NM_003070.3:c.2884-1223T>C:p.(=) pathogenicity:0.0 [1/1]; 9:2096706A>T NM_003070.3:c.2933A>T:p.(Y978F) pathogenicity:1.0 [0/1]; 9:2096774G>A NM_003070.3:c.2991+10G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2097548GA>G NM_003070.3:c.3078+78del:p.(=) pathogenicity:0.0 [0/1]; 9:2097585C>T NM_003070.3:c.3078+114C>T:p.(=) pathogenicity:0.0 [0/1]; 9:2101434G>A NM_003070.3:c.3079-136G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2101545T>A NM_003070.3:c.3079-25T>A:p.(=) pathogenicity:0.0 [0/1]; 9:2103950T>C NM_003070.3:c.3126-53T>C:p.(=) pathogenicity:0.0 [0/1]; 9:2110581A>G NM_003070.3:c.3456+164A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2120825G>A NM_003070.3:c.3762+1290G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2122780T>C NM_003070.3:c.3763-939T>C:p.(=) pathogenicity:0.0 [./.]; 9:2123420A>T NM_003070.3:c.3763-299A>T:p.(=) pathogenicity:0.0 [0/0]; 9:2123435G>A NM_003070.3:c.3763-284G>A:p.(=) pathogenicity:0.0 [0/0]; 9:2123523A>G NM_003070.3:c.3763-196A>G:p.(=) pathogenicity:0.0 [0/1]; 9:2123531G>A NM_003070.3:c.3763-188G>A:p.(=) pathogenicity:0.0 [0/1]; 9:2125489CTTT>C NM_003070.3:c.3981+1553_3981+1555del:p.(=) pathogenicity:0.0 [1/1]; 9:2128398C>G NM_003070.3:c.3981+4461C>G:p.(=) pathogenicity:0.0 [1/1]; 9:2133189A>G NM_003070.3:c.3981+9252A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2133775C>T NM_003070.3:c.3981+9838C>T:p.(=) pathogenicity:0.0 [./.]; 9:2136142T>C NM_003070.3:c.3981+12205T>C:p.(=) pathogenicity:0.0 [./.]; 9:2137351T>A NM_003070.3:c.3981+13414T>A:p.(=) pathogenicity:0.0 [1/1]; 9:2138752A>T NM_003070.3:c.3981+14815A>T:p.(=) pathogenicity:0.0 [1/1]; 9:2139360T>G NM_003070.3:c.3981+15423T>G:p.(=) pathogenicity:0.0 [1/1]; 9:2141192TA>T NM_003070.3:c.3981+17256del:p.(=) pathogenicity:0.0 [./.]; 9:2141969C>G NM_003070.3:c.3981+18032C>G:p.(=) pathogenicity:0.0 [./.]; 9:2144373T>G NM_003070.3:c.3982-17313T>G:p.(=) pathogenicity:0.0 [1/1]; 9:2146675C>T NM_003070.3:c.3982-15011C>T:p.(=) pathogenicity:0.0 [./.]; 9:2150862G>A NM_003070.3:c.3982-10824G>A:p.(=) pathogenicity:0.0 [./.]; 9:2154284GGTA>G NM_003070.3:c.3982-7401_3982-7399del:p.(=) pathogenicity:0.0 [./.]; 9:2169179C>A NM_003070.3:c.4200-1240C>A:p.(=) pathogenicity:0.0 [./.]; 9:2170512G>C NM_003070.3:c.4253+40G>C:p.(=) pathogenicity:0.0 [0/1]; 9:2171906G>T NM_003070.3:c.4253+1434G>T:p.(=) pathogenicity:0.0 [1/1]; 9:2175247G>A NM_003070.3:c.4253+4775G>A:p.(=) pathogenicity:0.0 [1/1]; 9:2182062A>G NM_003070.3:c.4360-79A>G:p.(=) pathogenicity:0.0 [1/1]; 9:2183634CAA>C NM_003070.3:c.4461+1393_4461+1394del:p.(=) pathogenicity:0.0 [1/1]; 9:2183638G>GGA NM_003070.3:c.4461+1396_4461+1397insGA:p.(=) pathogenicity:0.0 [1/1]; 9:2186460T>C NM_003070.3:c.4594+232T>C:p.(=) pathogenicity:0.0 [1/1]; 9:2188759T>G NM_003070.3:c.4595-2507T>G:p.(=) pathogenicity:0.0 [./.]; 9:2194227C>T XM_005251557.1:: pathogenicity:0.0 [./.]; 9:2195846G>A XM_005251557.1:: pathogenicity:0.0 [1/1]; 9:2209976A>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2210010T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2229243A>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2229335T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2229436A>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2231188A>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2234367A>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2239137C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2245401G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2245417A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2249520AT>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2249523CACCCGCTG>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2259054A>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2309351G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2312205C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2325765C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2336621C>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2340935A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2340963C>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2341000T>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2347194C>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2373534T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2373544G>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2383439G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2394021T>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2394539C>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2409349A>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2413100GTCTT>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2427960A>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2435075A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2435209A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2439310G>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2439864T>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2448235G>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2448244G>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2451856T>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2459493GA>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2483942C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2484013T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2488261T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2496009T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2496480T>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2497314G>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2497738C>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2502873G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2509601G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2511920T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2511948T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2511952G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512222C>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512225G>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512309T>C NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512313T>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512324G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2512328G>A NR_015375.1:: pathogenicity:0.0 [./.]; 9:2513426G>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2518927G>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2519035A>G NR_015375.1:: pathogenicity:0.0 [./.]; 9:2531488G>A NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2531629C>T NR_015375.1:: pathogenicity:0.0 [./.]; 9:2531967A>C NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2531983A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2535501C>T NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2535524C>T NR_015375.1:: pathogenicity:0.0 [0/1]; 9:2535566A>G NR_015375.1:: pathogenicity:0.0 [1/1]; 9:2535574G>A NR_015375.1:: pathogenicity:0.0 [0/1]
89
+ 80 Neuropathy, hereditary sensory and autonomic, type II OMIM:201300 1/8371 0.00% -8.747 NCBIGene:54463 5:16473838C>T NM_001034850.2:c.*1012G>A:p.(=) pathogenicity:0.0 [0/1]; 5:16474644T>G NM_001034850.2:c.*206A>C:p.(=) pathogenicity:0.0 [0/1]; 5:16477751C>A NM_001034850.2:c.1000+20G>T:p.(=) pathogenicity:0.0 [0/1]; 5:16478200G>A NM_001034850.2:c.816C>T:p.(=) pathogenicity:0.0 [0/1]; 5:16479220A>G NM_001034850.2:c.671-124T>C:p.(=) pathogenicity:0.0 [0/0]; 5:16479919G>A NM_001034850.2:c.671-823C>T:p.(=) pathogenicity:0.0 [0/1]; 5:16480770T>C NM_001034850.2:c.670+348A>G:p.(=) pathogenicity:0.0 [1/1]; 5:16481062C>T NM_001034850.2:c.670+56G>A:p.(=) pathogenicity:0.0 [0/1]; 5:16495013T>A NM_001034850.2:c.459-11432A>T:p.(=) pathogenicity:0.0 [./.]; 5:16500790A>G NM_001034850.2:c.459-17209T>C:p.(=) pathogenicity:0.0 [1/1]; 5:16508674A>G NM_001034850.2:c.459-25093T>C:p.(=) pathogenicity:0.0 [0/1]; 5:16508898T>C NM_001034850.2:c.459-25317A>G:p.(=) pathogenicity:0.0 [0/1]; 5:16513112T>C NM_001034850.2:c.459-29531A>G:p.(=) pathogenicity:0.0 [./.]; 5:16529556G>A NM_001034850.2:c.458+36316C>T:p.(=) pathogenicity:0.0 [1/1]; 5:16572322CT>C NM_001034850.2:c.321-112del:p.(=) pathogenicity:0.0 [0/1]; 5:16595199A>C NM_001034850.2:c.320+21562T>G:p.(=) pathogenicity:0.0 [1/1]; 5:16605738G>T NM_001034850.2:c.320+11023C>A:p.(=) pathogenicity:0.0 [1/1]; 5:16610057A>G NM_001034850.2:c.320+6704T>C:p.(=) pathogenicity:0.0 [./.]; 5:16616950G>A NM_001034850.2:c.131C>T:p.(A44V) pathogenicity:0.9 [0/1]; 5:16616973C>A NM_001034850.2:c.108G>T:p.(E36D) pathogenicity:0.7 [0/1]
90
+ 81 Neuropathy, hereditary sensory and autonomic, type IIB OMIM:613115 1/8371 0.00% -8.747 NCBIGene:54463 5:16473838C>T NM_001034850.2:c.*1012G>A:p.(=) pathogenicity:0.0 [0/1]; 5:16474644T>G NM_001034850.2:c.*206A>C:p.(=) pathogenicity:0.0 [0/1]; 5:16477751C>A NM_001034850.2:c.1000+20G>T:p.(=) pathogenicity:0.0 [0/1]; 5:16478200G>A NM_001034850.2:c.816C>T:p.(=) pathogenicity:0.0 [0/1]; 5:16479220A>G NM_001034850.2:c.671-124T>C:p.(=) pathogenicity:0.0 [0/0]; 5:16479919G>A NM_001034850.2:c.671-823C>T:p.(=) pathogenicity:0.0 [0/1]; 5:16480770T>C NM_001034850.2:c.670+348A>G:p.(=) pathogenicity:0.0 [1/1]; 5:16481062C>T NM_001034850.2:c.670+56G>A:p.(=) pathogenicity:0.0 [0/1]; 5:16495013T>A NM_001034850.2:c.459-11432A>T:p.(=) pathogenicity:0.0 [./.]; 5:16500790A>G NM_001034850.2:c.459-17209T>C:p.(=) pathogenicity:0.0 [1/1]; 5:16508674A>G NM_001034850.2:c.459-25093T>C:p.(=) pathogenicity:0.0 [0/1]; 5:16508898T>C NM_001034850.2:c.459-25317A>G:p.(=) pathogenicity:0.0 [0/1]; 5:16513112T>C NM_001034850.2:c.459-29531A>G:p.(=) pathogenicity:0.0 [./.]; 5:16529556G>A NM_001034850.2:c.458+36316C>T:p.(=) pathogenicity:0.0 [1/1]; 5:16572322CT>C NM_001034850.2:c.321-112del:p.(=) pathogenicity:0.0 [0/1]; 5:16595199A>C NM_001034850.2:c.320+21562T>G:p.(=) pathogenicity:0.0 [1/1]; 5:16605738G>T NM_001034850.2:c.320+11023C>A:p.(=) pathogenicity:0.0 [1/1]; 5:16610057A>G NM_001034850.2:c.320+6704T>C:p.(=) pathogenicity:0.0 [./.]; 5:16616950G>A NM_001034850.2:c.131C>T:p.(A44V) pathogenicity:0.9 [0/1]; 5:16616973C>A NM_001034850.2:c.108G>T:p.(E36D) pathogenicity:0.7 [0/1]
91
+ 82 Jackson-Weiss syndrome OMIM:123150 1/8371 0.00% -8.758 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
92
+ 83 Mental retardation, autosomal dominant 34 OMIM:616351 1/8371 0.00% -8.764 NCBIGene:10087 5:74675250T>C NM_001130105.1:c.2180A>G:p.(K727R) pathogenicity:1.0 [0/1]; 5:74753784ATG>A NM_001130105.1:c.732+1104_732+1105del:p.(=) pathogenicity:0.0 [1/1]
93
+ 84 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency OMIM:201810 1/8371 0.00% -8.857 NCBIGene:3284 1:119938651A>G XM_005270917.1:: pathogenicity:0.0 [./.]; 1:119944173T>C NM_001166120.1:: pathogenicity:0.0 [1/1]; 1:119964000G>GTA NM_000198.3:c.308-432_308-431insTA:p.(=) pathogenicity:0.0 [1/1]; 1:119964933T>C NM_000198.3:c.809T>C:p.(I270T) pathogenicity:0.8 [0/1]; 1:119977703C>T NM_000862.2:: pathogenicity:0.0 [0/1]; 1:119977761T>A NM_000862.2:: pathogenicity:0.0 [1/1]; 1:119981612C>T NM_000862.2:: pathogenicity:0.0 [0/1]; 1:119988071C>T NM_000862.2:: pathogenicity:0.0 [0/0]; 1:119988404C>T NM_000862.2:: pathogenicity:0.0 [1/1]; 1:119988784T>C NM_000862.2:: pathogenicity:0.0 [0/1]; 1:119988799G>C NM_000862.2:: pathogenicity:0.0 [0/1]; 1:119991385G>T NM_000862.2:: pathogenicity:0.0 [./.]; 1:119991429T>C NM_000862.2:: pathogenicity:0.0 [./.]; 1:119992928T>C NM_000862.2:: pathogenicity:0.0 [1/1]; 1:120009476C>T NM_000862.2:: pathogenicity:0.0 [1/1]; 1:120013875C>T NM_000862.2:: pathogenicity:0.0 [0/1]; 1:120017900A>G NM_000862.2:: pathogenicity:0.0 [1/1]; 1:120022671A>G NM_000862.2:: pathogenicity:0.0 [1/1]; 1:120023877C>CA NM_000862.2:: pathogenicity:0.0 [./.]
94
+ 85 Spastic paraplegia 45, autosomal recessive OMIM:613162 1/8371 0.00% -8.863 NCBIGene:22978 10:104846219G>GTTGT NM_012229.4:: pathogenicity:0.0 [0/1]; 10:104846797C>T NM_012229.4:: pathogenicity:0.0 [0/1]; 10:104846984GA>G NM_012229.4:: pathogenicity:0.0 [1/1]; 10:104848123G>A NM_001134373.2:c.*1306C>T:p.(=) pathogenicity:0.0 [0/1]; 10:104849468G>A NM_001134373.2:c.1647C>T:p.(=) pathogenicity:0.0 [0/1]; 10:104850621TAATA>T NM_001134373.2:c.1272+68_1272+71del:p.(=) pathogenicity:0.0 [0/1]; 10:104850632G>A NM_001134373.2:c.1272+61C>T:p.(=) pathogenicity:0.0 [0/1]; 10:104851285G>A NM_001134373.2:c.1211+36C>T:p.(=) pathogenicity:0.0 [0/1]; 10:104851396G>T NM_001134373.2:c.1160-24C>A:p.(=) pathogenicity:0.0 [0/1]; 10:104854004T>TA NM_001134373.2:c.921+100_921+101insT:p.(=) pathogenicity:0.0 [0/1]; 10:104855656T>C NM_001134373.2:c.813+40A>G:p.(=) pathogenicity:0.0 [0/1]; 10:104855670G>A NM_001134373.2:c.813+26C>T:p.(=) pathogenicity:0.0 [0/1]; 10:104860053T>A NM_001134373.2:c.540-277A>T:p.(=) pathogenicity:0.0 [1/1]; 10:104861271A>AT NM_001134373.2:c.390-189_390-188insA:p.(=) pathogenicity:0.0 [0/1]; 10:104864805C>T NM_001134373.2:c.389+658G>A:p.(=) pathogenicity:0.0 [1/1]; 10:104899197C>G NM_001134373.2:c.141G>C:p.(K47N) pathogenicity:1.0 [0/1]; 10:104934952C>T NM_001134373.2:c.-24-213G>A:p.(=) pathogenicity:0.0 [1/1]; 10:104952587C>G NM_001134373.2:c.-25+406G>C:p.(=) pathogenicity:0.0 [0/1]; 10:104961405AAAAC>A NM_001134373.2:: pathogenicity:0.0 [./.]; 10:104968050T>G NM_001134373.2:: pathogenicity:0.0 [1/1]; 10:104976963A>G NM_001134373.2:: pathogenicity:0.0 [0/1]; 10:104981167C>G NM_001134373.2:: pathogenicity:0.0 [1/1]; 10:105005500T>C NM_001143909.1:: pathogenicity:0.0 [0/1]
95
+ 86 Focal facial dermal dysplasia 4 OMIM:614974 1/8371 0.00% -8.963 NCBIGene:340665 10:94819365T>TACACAC XR_246086.1:: pathogenicity:0.0 [1/1]; 10:94821061C>A NM_183374.2:c.41C>A:p.(A14E) pathogenicity:1.0 [0/1]; 10:94822686C>T NM_183374.2:c.639C>T:p.(=) pathogenicity:0.0 [1/1]; 10:94822895G>T NM_183374.2:c.705+143G>T:p.(=) pathogenicity:0.0 [1/1]; 10:94824488T>A NM_183374.2:c.861+195T>A:p.(=) pathogenicity:0.0 [1/1]; 10:94825098C>A NM_183374.2:c.862-615C>A:p.(=) pathogenicity:0.0 [1/1]
96
+ 87 Oculodentodigital dysplasia, autosomal recessive OMIM:257850 1/8371 0.00% -9.007 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
97
+ 88 ABETALIPOPROTEINEMIA OMIM:200100 1/8371 0.00% -9.028 NCBIGene:4547 4:100485244G>C NM_000253.2:c.-252G>C:p.(=) pathogenicity:0.0 [0/1]; 4:100485255G>A XM_005263025.1:c.3G>A:p.0? pathogenicity:0.0 [0/1]; 4:100485577T>A XM_005263025.1:c.142+183T>A:p.(=) pathogenicity:0.0 [1/1]; 4:100486558CTAT>C XM_005263025.1:c.142+1165_142+1167del:p.(=) pathogenicity:0.0 [./.]; 4:100488580G>C XM_005263025.1:c.142+3186G>C:p.(=) pathogenicity:0.0 [1/1]; 4:100495817T>C XM_005263025.1:c.143-7245T>C:p.(=) pathogenicity:0.0 [./.]; 4:100503159C>A NM_000253.2:c.159C>A:p.(D53E) pathogenicity:0.8 [0/1]; 4:100504664T>C NM_000253.2:c.383T>C:p.(I128T) pathogenicity:0.0 [0/1]; 4:100512350C>T NM_000253.2:c.502-42C>T:p.(=) pathogenicity:0.0 [0/1]; 4:100534041G>A NM_000253.2:c.1990-29G>A:p.(=) pathogenicity:0.0 [0/1]; 4:100544440GA>G NM_000253.2:c.*454del:p.(=) pathogenicity:0.0 [0/1]; 4:100545051C>G NM_000253.2:c.*1046C>G:p.(=) pathogenicity:0.0 [0/1]
98
+ 89 Deafness, autosomal dominant nonsyndromic sensorineural 17 OMIM:603622 1/8371 0.00% -9.031 NCBIGene:4627 22:36663627C>T NM_001136540.1:: pathogenicity:0.0 [1/1]; 22:36664486T>C NM_001136540.1:: pathogenicity:0.0 [1/1]; 22:36672627G>A NM_002473.4:: pathogenicity:0.0 [1/1]; 22:36678118C>T NM_002473.4:c.*596G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36682618A>G NM_002473.4:c.5061+146T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36688178G>A NM_002473.4:c.4198C>T:p.(R1400W) pathogenicity:1.0 [0/1]; 22:36690026G>C NM_002473.4:c.3837+112C>G:p.(=) pathogenicity:0.0 [1/1]; 22:36690113G>A NM_002473.4:c.3837+25C>T:p.(=) pathogenicity:0.0 [1/1]; 22:36691607A>C NM_002473.4:c.3429T>G:p.(=) pathogenicity:0.0 [1/1]; 22:36693653G>A NM_002473.4:c.3101-593C>T:p.(=) pathogenicity:0.0 [./.]; 22:36693980T>A NM_002473.4:c.3101-920A>T:p.(=) pathogenicity:0.0 [1/1]; 22:36695173C>T NM_002473.4:c.2977-85G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36695247G>T NM_002473.4:c.2977-159C>A:p.(=) pathogenicity:0.0 [1/1]; 22:36695942C>T NM_002473.4:c.2976+231G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36700175A>G NM_002473.4:c.2256T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36702300C>T NM_002473.4:c.2037+160G>A:p.(=) pathogenicity:0.0 [./.]; 22:36705141A>AG NM_002473.4:c.1843+185_1843+186insC:p.(=) pathogenicity:0.0 [1/1]; 22:36705529A>G NM_002473.4:c.1729-88T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36705652G>A NM_002473.4:c.1729-211C>T:p.(=) pathogenicity:0.0 [./.]; 22:36708084C>T NM_002473.4:c.1728+10G>A:p.(=) pathogenicity:0.0 [0/1]; 22:36708338A>G NM_002473.4:c.1555-71T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36710047T>C NM_002473.4:c.1554+143A>G:p.(=) pathogenicity:0.0 [0/1]; 22:36710056A>G NM_002473.4:c.1554+134T>C:p.(=) pathogenicity:0.0 [0/1]; 22:36710183T>C NM_002473.4:c.1554+7A>G:p.? pathogenicity:0.0 [0/1]; 22:36712387A>G NM_002473.4:c.1380+175T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36712472A>G NM_002473.4:c.1380+90T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36712810C>G NM_002473.4:c.1228-96G>C:p.(=) pathogenicity:0.0 [0/1]; 22:36713020C>T NM_002473.4:c.1228-306G>A:p.(=) pathogenicity:0.0 [./.]; 22:36715274A>G NM_002473.4:c.1108+311T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36715871AC>A NM_002473.4:c.1013-192del:p.(=) pathogenicity:0.0 [1/1]; 22:36716202C>CT NM_002473.4:c.1012+62_1012+63insA:p.(=) pathogenicity:0.0 [1/1]; 22:36716209G>A NM_002473.4:c.1012+56C>T:p.(=) pathogenicity:0.0 [1/1]; 22:36717001A>AT NM_002473.4:c.770-61_770-60insA:p.(=) pathogenicity:0.0 [0/0]; 22:36720424C>T NM_002473.4:c.613-1858G>A:p.(=) pathogenicity:0.0 [./.]; 22:36722534G>A NM_002473.4:c.612+79C>T:p.(=) pathogenicity:0.0 [1/1]; 22:36722838CG>C NM_002473.4:c.519-133del:p.(=) pathogenicity:0.0 [1/1]; 22:36723697T>G NM_002473.4:c.491-164A>C:p.(=) pathogenicity:0.0 [1/1]; 22:36737304C>A NM_002473.4:c.490+111G>T:p.(=) pathogenicity:0.0 [0/1]; 22:36741740G>C NM_002473.4:c.333+3209C>G:p.(=) pathogenicity:0.0 [./.]; 22:36743516G>A NM_002473.4:c.333+1433C>T:p.(=) pathogenicity:0.0 [./.]; 22:36744886GC>G NM_002473.4:c.333+62del:p.(=) pathogenicity:0.0 [1/1]; 22:36744888C>G NM_002473.4:c.333+61G>C:p.(=) pathogenicity:0.0 [1/1]; 22:36744890C>T NM_002473.4:c.333+59G>A:p.(=) pathogenicity:0.0 [1/1]; 22:36748993A>G NM_002473.4:c.-19-3693T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36755498A>G NM_002473.4:c.-19-10198T>C:p.(=) pathogenicity:0.0 [1/1]; 22:36791050T>C XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36793548C>T XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36804385T>TC XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36804389T>G XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36849581ATTAAC>A XM_005261508.1:: pathogenicity:0.0 [1/1]; 22:36851207C>T XM_005261508.1:: pathogenicity:0.0 [1/1]
99
+ 90 Spinocerebellar ataxia 42 OMIM:616795 1/8371 0.00% -9.062 NCBIGene:8913 17:48646346A>AGT NM_001256324.1:c.354+4_354+5insGT:p.? pathogenicity:0.8 [0/1]; 17:48646376T>TGTGTGTGTGGTG NM_001256324.1:c.354+34_354+35insGTGTGTGTGGTG:p.(=) pathogenicity:0.0 [0/1]; 17:48652806G>A NM_001256324.1:c.1141-98G>A:p.(=) pathogenicity:0.0 [0/1]; 17:48652875A>G NM_001256324.1:c.1141-29A>G:p.(=) pathogenicity:0.0 [0/1]; 17:48655493A>G NM_001256324.1:c.1925-56A>G:p.(=) pathogenicity:0.0 [0/1]; 17:48678325A>T NM_001256324.1:c.3792-87A>T:p.(=) pathogenicity:0.0 [1/1]; 17:48679099C>G NM_001256324.1:c.3915+564C>G:p.(=) pathogenicity:0.0 [./.]; 17:48680657T>C NM_001256324.1:c.4169+97T>C:p.(=) pathogenicity:0.0 [0/1]; 17:48680780T>A NM_001256324.1:c.4169+220T>A:p.(=) pathogenicity:0.0 [./.]; 17:48685019C>A NM_001256324.1:c.4513-169C>A:p.(=) pathogenicity:0.0 [0/0]; 17:48687430C>T NM_001256324.1:c.4705+2050C>T:p.(=) pathogenicity:0.0 [0/1]; 17:48692881C>T NM_001256324.1:c.4857+8C>T:p.? pathogenicity:0.0 [0/1]; 17:48693760G>C NM_001256324.1:c.4967+15G>C:p.(=) pathogenicity:0.0 [0/1]; 17:48696827T>A NM_001256324.1:c.5728-217T>A:p.(=) pathogenicity:0.0 [0/0]; 17:48697481A>G NM_001256324.1:c.5871+294A>G:p.(=) pathogenicity:0.0 [./.]; 17:48701697T>C NM_001256324.1:c.6041-24T>C:p.(=) pathogenicity:0.0 [0/1]; 17:48703752T>C NM_001256324.1:c.6585T>C:p.(=) pathogenicity:0.0 [0/1]
100
+ 91 Cone-rod dystrophy and hearing loss OMIM:617236 1/8371 0.00% -9.063 NCBIGene:84131 9:80718995A>G NM_002072.3:: pathogenicity:0.0 [1/1]; 9:80741650C>T NM_002072.3:: pathogenicity:0.0 [1/1]; 9:80771165T>C NM_002072.3:: pathogenicity:0.0 [./.]; 9:80771166G>A NM_002072.3:: pathogenicity:0.0 [./.]; 9:80780814T>A NM_002072.3:: pathogenicity:0.0 [1/1]; 9:80793253G>A NM_002072.3:: pathogenicity:0.0 [0/1]; 9:80793256C>A NM_002072.3:: pathogenicity:0.0 [0/1]; 9:80793592C>G NM_002072.3:: pathogenicity:0.0 [0/1]; 9:80794254G>C NM_002072.3:: pathogenicity:0.0 [0/1]; 9:80834173A>G NM_002072.3:: pathogenicity:0.0 [0/1]; 9:80837758G>T NM_002072.3:: pathogenicity:0.0 [./.]; 9:80851350G>C NM_001098802.1:c.84G>C:p.(=) pathogenicity:0.0 [0/1]; 9:80851527G>A NM_001098802.1:c.253+8G>A:p.? pathogenicity:0.0 [0/1]; 9:80856061C>G NM_001098802.1:c.500-551C>G:p.(=) pathogenicity:0.0 [1/1]; 9:80856418C>G NM_001098802.1:c.500-194C>G:p.(=) pathogenicity:0.0 [0/1]; 9:80856909A>G NM_001098802.1:c.603+194A>G:p.(=) pathogenicity:0.0 [./.]; 9:80857346C>T NM_001098802.1:c.603+631C>T:p.(=) pathogenicity:0.0 [1/1]; 9:80863088G>A NM_001098802.1:c.893-119G>A:p.(=) pathogenicity:0.0 [1/1]; 9:80863212T>C NM_001098802.1:c.898T>C:p.(S300P) pathogenicity:0.8 [0/1]; 9:80864140T>TTTGTTGTTG NM_001098802.1:c.1069+351_1069+352insTTGTTGTTG:p.(=) pathogenicity:0.0 [1/1]; 9:80864512T>C NM_001098802.1:c.1069+723T>C:p.(=) pathogenicity:0.0 [./.]; 9:80868354G>T NM_001098802.1:c.1254+161G>T:p.(=) pathogenicity:0.0 [1/1]; 9:80869933A>C NM_001098802.1:c.1383+53A>C:p.(=) pathogenicity:0.0 [1/1]; 9:80877777C>T NM_001098802.1:c.1384-46C>T:p.(=) pathogenicity:0.0 [0/1]; 9:80879999AC>A NM_001098802.1:c.1629-288del:p.(=) pathogenicity:0.0 [0/0]; 9:80881771C>T XM_005252263.1:c.2110+152C>T:p.(=) pathogenicity:0.0 [0/1]; 9:80890697AC>A XM_005252265.1:: pathogenicity:0.0 [1/1]
101
+ 92 Dental noneruption OMIM:125350 1/8371 0.00% -9.067 NCBIGene:5745 3:46910618A>C NM_000258.2:: pathogenicity:0.0 [./.]; 3:46915059C>T NM_000316.2:: pathogenicity:0.0 [0/1]; 3:46933266G>T NM_000316.2:c.76-2131G>T:p.(=) pathogenicity:0.0 [./.]; 3:46938247A>C NM_000316.2:c.313+888A>C:p.(=) pathogenicity:0.0 [1/1]; 3:46939588G>A NM_000316.2:c.449G>A:p.(R150H) pathogenicity:0.8 [0/1]; 3:46941116A>G NM_000316.2:c.988+170A>G:p.(=) pathogenicity:0.0 [1/1]; 3:46943028T>C NM_000316.2:c.1116+58T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46944274T>C NM_000316.2:c.1389T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46945263G>GA NM_000316.2:c.*127dup:p.(=) pathogenicity:0.0 [1/1]; 3:46947087T>A XM_005265343.1:: pathogenicity:0.0 [1/1]; 3:46949379G>A XM_005265343.1:: pathogenicity:0.0 [./.]; 3:46957298G>A NR_102269.1:: pathogenicity:0.0 [1/1]
102
+ 93 Lymphatic malformation 9 OMIM:619319 1/8371 0.00% -9.125 NCBIGene:9620 22:46762360G>A NM_014246.1:c.8223C>T:p.(=) pathogenicity:0.0 [0/1]; 22:46765181G>GTCAGGTCGCCGAC NM_014246.1:c.7873-27_7873-26insGTCGGCGACCTGA:p.(=) pathogenicity:0.0 [1/1]; 22:46773124T>C NM_014246.1:c.7418A>G:p.(Y2473C) pathogenicity:1.0 [0/1]; 22:46775195T>C NM_014246.1:c.7257-581A>G:p.(=) pathogenicity:0.0 [1/1]; 22:46786058G>T NM_014246.1:c.6345+231C>A:p.(=) pathogenicity:0.0 [0/1]; 22:46802783A>AG NM_014246.1:c.5226+2109_5226+2110insC:p.(=) pathogenicity:0.0 [1/1]; 22:46820321G>T NM_014246.1:c.4611+8969C>A:p.(=) pathogenicity:0.0 [1/1]; 22:46841719C>A NM_014246.1:c.4184-6411G>T:p.(=) pathogenicity:0.0 [0/1]; 22:46841727C>A NM_014246.1:c.4184-6419G>T:p.(=) pathogenicity:0.0 [0/1]; 22:46852930A>C NM_014246.1:c.4183+6674T>G:p.(=) pathogenicity:0.0 [1/1]; 22:46862892T>C NM_014246.1:c.3545-2650A>G:p.(=) pathogenicity:0.0 [1/1]; 22:46862943G>A NM_014246.1:c.3545-2701C>T:p.(=) pathogenicity:0.0 [1/1]; 22:46870025C>T NM_014246.1:c.3545-9783G>A:p.(=) pathogenicity:0.0 [./.]; 22:46874442AT>A NM_014246.1:c.3545-14201del:p.(=) pathogenicity:0.0 [./.]; 22:46874458G>C NM_014246.1:c.3545-14216C>G:p.(=) pathogenicity:0.0 [./.]; 22:46877139C>CA NM_014246.1:c.3545-16898_3545-16897insT:p.(=) pathogenicity:0.0 [1/1]; 22:46877174TA>T NM_014246.1:c.3545-16933del:p.(=) pathogenicity:0.0 [1/1]; 22:46877389G>A NM_014246.1:c.3545-17147C>T:p.(=) pathogenicity:0.0 [1/1]; 22:46879022G>A NM_014246.1:c.3545-18780C>T:p.(=) pathogenicity:0.0 [1/1]; 22:46891896C>G NM_014246.1:c.3545-31654G>C:p.(=) pathogenicity:0.0 [1/1]; 22:46913774T>C NM_014246.1:c.3544+15750A>G:p.(=) pathogenicity:0.0 [1/1]; 22:46927855T>A NM_014246.1:c.3544+1669A>T:p.(=) pathogenicity:0.0 [1/1]; 22:46927856GGA>G NM_014246.1:c.3544+1666_3544+1667del:p.(=) pathogenicity:0.0 [1/1]; 22:46929692A>G NM_014246.1:c.3376T>C:p.(C1126R) pathogenicity:0.0 [1/1]; 22:46931077G>C NM_014246.1:c.1991C>G:p.(S664W) pathogenicity:0.0 [1/1]; 22:46931793G>C NM_014246.1:c.1275C>G:p.(=) pathogenicity:0.0 [1/1]; 22:46931838G>A NM_014246.1:c.1230C>T:p.(=) pathogenicity:0.0 [1/1]; 22:46937090T>C NM_014246.1:: pathogenicity:0.0 [1/1]; 22:46943554T>C XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46946120T>C XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46948030G>T XM_005261396.1:: pathogenicity:0.0 [./.]; 22:46951129T>G XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46955987T>C XM_005261396.1:: pathogenicity:0.0 [./.]; 22:46956040G>GA XM_005261396.1:: pathogenicity:0.0 [./.]; 22:46957337CA>C XM_005261396.1:: pathogenicity:0.0 [0/1]; 22:46957341A>G XM_005261396.1:: pathogenicity:0.0 [0/1]; 22:46960486AG>A XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46961472A>G XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46962046C>T XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46963413A>ACTCCCAAGATAACTAACCCG XM_005261396.1:: pathogenicity:0.0 [1/1]; 22:46964646A>T XM_005261396.1:: pathogenicity:0.0 [./.]; 22:46968056T>C XM_005261396.1:: pathogenicity:0.0 [./.]
103
+ 94 Keratolytic winter erythema OMIM:148370 1/8371 0.00% -9.126 NCBIGene:1508 8:11698747A>G XM_005272368.1:: pathogenicity:0.0 [1/1]; 8:11700445CTTT>C NM_001908.3:c.*2186_*2188del:p.(=) pathogenicity:0.0 [./.]; 8:11700727A>C NM_001908.3:c.*1907T>G:p.(=) pathogenicity:0.0 [0/1]; 8:11700745G>C NM_001908.3:c.*1889C>G:p.(=) pathogenicity:0.0 [1/1]; 8:11700967T>A NM_001908.3:c.*1667A>T:p.(=) pathogenicity:0.0 [0/1]; 8:11701096A>C NM_001908.3:c.*1538T>G:p.(=) pathogenicity:0.0 [0/1]; 8:11701198G>A NM_001908.3:c.*1436C>T:p.(=) pathogenicity:0.0 [0/1]; 8:11701253A>G NM_001908.3:c.*1381T>C:p.(=) pathogenicity:0.0 [0/1]; 8:11701278G>A NM_001908.3:c.*1356C>T:p.(=) pathogenicity:0.0 [0/1]; 8:11701330G>A NM_001908.3:c.*1304C>T:p.(=) pathogenicity:0.0 [0/1]; 8:11701842A>C NM_001908.3:c.*792T>G:p.(=) pathogenicity:0.0 [1/1]; 8:11701933T>C NM_001908.3:c.*701A>G:p.(=) pathogenicity:0.0 [0/1]; 8:11702006A>T NM_001908.3:c.*628T>A:p.(=) pathogenicity:0.0 [0/1]; 8:11702122G>C NM_001908.3:c.*512C>G:p.(=) pathogenicity:0.0 [0/1]; 8:11702204G>A NM_001908.3:c.*430C>T:p.(=) pathogenicity:0.0 [1/1]; 8:11702313C>G NM_001908.3:c.*321G>C:p.(=) pathogenicity:0.0 [0/1]; 8:11702375G>A NM_001908.3:c.*259C>T:p.(=) pathogenicity:0.0 [0/1]; 8:11702542T>C NM_001908.3:c.*92A>G:p.(=) pathogenicity:0.0 [0/1]; 8:11702594G>C NM_001908.3:c.*40C>G:p.(=) pathogenicity:0.0 [0/1]; 8:11702840T>G NM_001908.3:c.923-109A>C:p.(=) pathogenicity:0.0 [0/1]; 8:11703241C>G NM_001908.3:c.851G>C:p.(G284A) pathogenicity:1.0 [0/1]; 8:11704457A>C NM_001908.3:c.793+104T>G:p.(=) pathogenicity:0.0 [0/1]; 8:11704719C>A NM_001908.3:c.677-42G>T:p.(=) pathogenicity:0.0 [0/1]; 8:11705342G>C NM_001908.3:c.533-11C>G:p.(=) pathogenicity:0.0 [0/1]; 8:11705380A>AAGCCCCAGCTGGGCGAGGC NM_001908.3:c.533-50_533-49insGCCTCGCCCAGCTGGGGCT:p.(=) pathogenicity:0.0 [0/0]; 8:11705448G>A NM_001908.3:c.533-117C>T:p.(=) pathogenicity:0.0 [0/1]; 8:11706513C>G NM_001908.3:c.446+42G>C:p.(=) pathogenicity:0.0 [0/1]; 8:11706581T>G NM_001908.3:c.420A>C:p.(=) pathogenicity:0.0 [0/1]; 8:11706856C>T NM_001908.3:c.328-183G>A:p.(=) pathogenicity:0.0 [0/1]; 8:11707027A>G NM_001908.3:c.328-354T>C:p.(=) pathogenicity:0.0 [0/1]; 8:11707032G>C NM_001908.3:c.328-359C>G:p.(=) pathogenicity:0.0 [0/1]; 8:11710301A>G NM_001908.3:c.127-97T>C:p.(=) pathogenicity:0.0 [0/1]; 8:11710369G>A NM_001908.3:c.127-165C>T:p.(=) pathogenicity:0.0 [1/1]; 8:11725388G>T NM_001908.3:c.-26+122C>A:p.(=) pathogenicity:0.0 [0/1]; 8:11734178G>A NM_001908.3:: pathogenicity:0.0 [0/1]; 8:11734248T>A NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11735303C>A NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11735631A>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11735641C>A NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11749447C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11750239C>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11754523A>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11769716A>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11770158C>G NM_001908.3:: pathogenicity:0.0 [./.]; 8:11771619A>C NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11771658T>C NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11771663A>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11771688G>C NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11776799T>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11777406C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11777764C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11777807GA>G NM_001908.3:: pathogenicity:0.0 [0/1]; 8:11778295AG>A NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11778803G>A NM_001908.3:: pathogenicity:0.0 [./.]; 8:11778911C>A NM_001908.3:: pathogenicity:0.0 [./.]; 8:11778966T>G NM_001908.3:: pathogenicity:0.0 [./.]; 8:11779707C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11780454A>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11780687T>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11782349G>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11782359C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11782433A>G NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11782570A>C NM_001908.3:: pathogenicity:0.0 [./.]; 8:11782603C>T NM_001908.3:: pathogenicity:0.0 [./.]; 8:11782609T>A NM_001908.3:: pathogenicity:0.0 [./.]; 8:11782919A>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11783118C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11784326T>C NM_001908.3:: pathogenicity:0.0 [./.]; 8:11784403A>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11786205T>C NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11786974C>T NM_001908.3:: pathogenicity:0.0 [0/1]; 8:11787152G>A NM_001908.3:: pathogenicity:0.0 [0/1]; 8:11796338G>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11797470G>A NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11798385C>T NM_001908.3:: pathogenicity:0.0 [./.]; 8:11800741C>T NM_001908.3:: pathogenicity:0.0 [./.]; 8:11802975CA>C NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11802995G>A NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11803154T>C NM_001908.3:: pathogenicity:0.0 [./.]; 8:11804618C>T NM_001908.3:: pathogenicity:0.0 [1/1]; 8:11805670G>A NM_001908.3:: pathogenicity:0.0 [0/1]; 8:11806269T>C NM_001908.3:: pathogenicity:0.0 [./.]; 8:11817632CTTTT>C NM_001908.3:: pathogenicity:0.0 [./.]; 8:11825183G>A NM_001908.3:: pathogenicity:0.0 [1/1]
104
+ 95 Deafness, autosomal dominant nonsyndromic sensorineural 12 OMIM:601543 1/8371 0.00% -9.156 NCBIGene:7007 11:120968462A>G NM_005422.2:: pathogenicity:0.0 [1/1]; 11:120976413G>A NM_005422.2:c.65-127G>A:p.(=) pathogenicity:0.0 [0/1]; 11:120976428A>G NM_005422.2:c.65-112A>G:p.(=) pathogenicity:0.0 [1/1]; 11:120979513T>C NM_005422.2:c.199-407T>C:p.(=) pathogenicity:0.0 [1/1]; 11:120983264A>C NM_005422.2:c.487-517A>C:p.(=) pathogenicity:0.0 [1/1]; 11:120984087C>G NM_005422.2:c.624+169C>G:p.(=) pathogenicity:0.0 [0/1]; 11:120984999G>A NM_005422.2:c.790+572G>A:p.(=) pathogenicity:0.0 [./.]; 11:121028581C>G NM_005422.2:c.4337C>G:p.(T1446R) pathogenicity:1.0 [0/1]; 11:121032978G>A NM_005422.2:c.5171G>A:p.(S1724N) pathogenicity:0.0 [1/1]; 11:121039811C>T NM_005422.2:c.5999+177C>T:p.(=) pathogenicity:0.0 [1/1]; 11:121065345C>A XM_005271653.1:: pathogenicity:0.0 [1/1]; 11:121076227G>A NM_006918.4:: pathogenicity:0.0 [./.]; 11:121083812T>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121085567C>A NM_006918.4:: pathogenicity:0.0 [./.]; 11:121090812A>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121090822A>G NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093473C>T NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093474A>G NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093676T>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093766T>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121098681A>G NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121100764G>T NM_006918.4:: pathogenicity:0.0 [./.]; 11:121108907C>A NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121111458C>A NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121114571C>T NM_006918.4:: pathogenicity:0.0 [1/1]
105
+ 96 Surfactant metabolism dysfunction, pulmonary, 3 OMIM:610921 1/8371 0.00% -9.199 NCBIGene:21 16:2329261C>T NM_001089.2:c.4360-130G>A:p.(=) pathogenicity:0.0 [1/1]; 16:2331430A>G NM_001089.2:c.4116C>C:p.(=) pathogenicity:0.0 [1/1]; 16:2334554A>T NM_001089.2:c.3704-116T>A:p.(=) pathogenicity:0.0 [1/1]; 16:2336394T>C NM_001089.2:c.3278+301A>G:p.(=) pathogenicity:0.0 [1/1]; 16:2338363C>G NM_001089.2:c.2701-33G>C:p.(=) pathogenicity:0.0 [./.]; 16:2340603G>C NM_001089.2:c.2514-982C>G:p.(=) pathogenicity:0.0 [1/1]; 16:2345709G>A NM_001089.2:c.2296C>T:p.(P766S) pathogenicity:0.9 [0/1]; 16:2349371T>C NM_001089.2:c.1741+33A>G:p.(=) pathogenicity:0.0 [1/1]; 16:2349760G>T NM_001089.2:c.1612-227C>A:p.(=) pathogenicity:0.0 [1/1]; 16:2367878C>T NM_001089.2:c.874-113G>A:p.(=) pathogenicity:0.0 [0/1]; 16:2373786C>A NM_001089.2:c.448-97G>T:p.(=) pathogenicity:0.0 [1/1]; 16:2374286T>C NM_001089.2:c.447+119A>G:p.(=) pathogenicity:0.0 [1/1]; 16:2376706T>C NM_001089.2:c.-26-213A>G:p.(=) pathogenicity:0.0 [1/1]
106
+ 97 Hamamy syndrome OMIM:611174 1/8371 0.00% -9.217 NCBIGene:10265 16:54966768A>G NM_001252197.1:c.608A>G:p.(E203G) pathogenicity:1.0 [0/1]; 16:54967096C>A NM_001252197.1:c.760C>A:p.(P254T) pathogenicity:0.0 [0/1]; 16:54967957A>C NM_001252197.1:c.*172A>C:p.(=) pathogenicity:0.0 [1/1]; 16:54967959A>C NM_001252197.1:c.*174A>C:p.(=) pathogenicity:0.0 [1/1]; 16:54968239A>G NM_001252197.1:c.*454A>G:p.(=) pathogenicity:0.0 [1/1]; 16:54975729T>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:54975735T>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:54991694A>T NM_005853.5:: pathogenicity:0.0 [./.]; 16:54991695C>T NM_005853.5:: pathogenicity:0.0 [./.]; 16:54997001G>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:54998943T>C NM_005853.5:: pathogenicity:0.0 [./.]; 16:55051479A>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55053485T>C NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55053497C>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55053879T>TCA NM_005853.5:: pathogenicity:0.0 [./.]; 16:55055724A>G NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55058740T>C NM_005853.5:: pathogenicity:0.0 [./.]; 16:55059876T>G NM_005853.5:: pathogenicity:0.0 [./.]; 16:55064124C>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55064212C>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55081203G>T NM_005853.5:: pathogenicity:0.0 [./.]; 16:55085496G>A NM_005853.5:: pathogenicity:0.0 [0/0]; 16:55092463A>T NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55093016C>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55100944A>C NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55113858AATCC>A NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55128197C>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55136344CT>C NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55142616G>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55146519G>A NM_005853.5:: pathogenicity:0.0 [./.]; 16:55146829A>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55156841AG>A NM_005853.5:: pathogenicity:0.0 [./.]; 16:55158480A>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55160946T>A NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55166074G>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55192543G>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55194191A>AT NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55195393T>C NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55201463A>AAAAT NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55205548T>C NM_005853.5:: pathogenicity:0.0 [0/0]; 16:55212441T>C NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55223207A>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55239042T>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55239089A>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55257784C>G NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55261669G>C NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55262591C>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55268266A>T NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55268294AATT>A NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55268442T>TC NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55268449T>G NM_005853.5:: pathogenicity:0.0 [0/1]; 16:55268544C>A NM_005853.5:: pathogenicity:0.0 [./.]; 16:55306296C>A NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55311671C>T NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55322817C>A NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55325122C>A NM_005853.5:: pathogenicity:0.0 [1/1]; 16:55325789T>C NM_005853.5:: pathogenicity:0.0 [./.]
107
+ 98 Cardiomyopathy, familial hypertrophic, 2 OMIM:115195 1/8371 0.00% -9.232 NCBIGene:7139 1:201330754G>A NM_000364.3:c.711-257C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201331068A>G NM_000364.3:c.683T>C:p.(I228T) pathogenicity:1.0 [0/1]; 1:201331554T>G NM_000364.3:c.601-404A>C:p.(=) pathogenicity:0.0 [1/1]; 1:201331950G>A NM_000364.3:c.600+474C>T:p.(=) pathogenicity:0.0 [./.]; 1:201332886G>T NM_000364.3:c.490-352C>A:p.(=) pathogenicity:0.0 [1/1]; 1:201334382G>A NM_000364.3:c.348C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201334795C>T NM_000364.3:c.237G>A:p.(=) pathogenicity:0.0 [0/1]; 1:201335899C>T NM_000364.3:c.233+67G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201336386T>C NM_000364.3:c.200-387A>G:p.(=) pathogenicity:0.0 [./.]; 1:201336641G>A NM_000364.3:c.199+258C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201336984C>T NM_000364.3:c.164-50G>A:p.(=) pathogenicity:0.0 [0/1]; 1:201337170A>G NM_000364.3:c.163+120T>C:p.(=) pathogenicity:0.0 [1/1]; 1:201338553T>C NM_000364.3:c.97+391A>G:p.(=) pathogenicity:0.0 [1/1]; 1:201338586A>G NM_000364.3:c.97+358T>C:p.(=) pathogenicity:0.0 [1/1]; 1:201338896T>C NM_000364.3:c.97+48A>G:p.(=) pathogenicity:0.0 [1/1]; 1:201339043C>T NM_000364.3:c.68-70G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201341175CAGAAG>C NM_000364.3:c.53-11_53-7del:p.? pathogenicity:0.0 [1/1]; 1:201341341C>T NM_000364.3:c.42-58G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201348043G>A XM_005245470.1:: pathogenicity:0.0 [./.]; 1:201348045G>T XM_005245470.1:: pathogenicity:0.0 [./.]
108
+ 99 Cardiomyopathy, dilated, 1D OMIM:601494 1/8371 0.00% -9.232 NCBIGene:7139 1:201330754G>A NM_000364.3:c.711-257C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201331068A>G NM_000364.3:c.683T>C:p.(I228T) pathogenicity:1.0 [0/1]; 1:201331554T>G NM_000364.3:c.601-404A>C:p.(=) pathogenicity:0.0 [1/1]; 1:201331950G>A NM_000364.3:c.600+474C>T:p.(=) pathogenicity:0.0 [./.]; 1:201332886G>T NM_000364.3:c.490-352C>A:p.(=) pathogenicity:0.0 [1/1]; 1:201334382G>A NM_000364.3:c.348C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201334795C>T NM_000364.3:c.237G>A:p.(=) pathogenicity:0.0 [0/1]; 1:201335899C>T NM_000364.3:c.233+67G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201336386T>C NM_000364.3:c.200-387A>G:p.(=) pathogenicity:0.0 [./.]; 1:201336641G>A NM_000364.3:c.199+258C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201336984C>T NM_000364.3:c.164-50G>A:p.(=) pathogenicity:0.0 [0/1]; 1:201337170A>G NM_000364.3:c.163+120T>C:p.(=) pathogenicity:0.0 [1/1]; 1:201338553T>C NM_000364.3:c.97+391A>G:p.(=) pathogenicity:0.0 [1/1]; 1:201338586A>G NM_000364.3:c.97+358T>C:p.(=) pathogenicity:0.0 [1/1]; 1:201338896T>C NM_000364.3:c.97+48A>G:p.(=) pathogenicity:0.0 [1/1]; 1:201339043C>T NM_000364.3:c.68-70G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201341175CAGAAG>C NM_000364.3:c.53-11_53-7del:p.? pathogenicity:0.0 [1/1]; 1:201341341C>T NM_000364.3:c.42-58G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201348043G>A XM_005245470.1:: pathogenicity:0.0 [./.]; 1:201348045G>T XM_005245470.1:: pathogenicity:0.0 [./.]
109
+ 100 Cardiomyopathy, familial restrictive, 3 OMIM:612422 1/8371 0.00% -9.232 NCBIGene:7139 1:201330754G>A NM_000364.3:c.711-257C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201331068A>G NM_000364.3:c.683T>C:p.(I228T) pathogenicity:1.0 [0/1]; 1:201331554T>G NM_000364.3:c.601-404A>C:p.(=) pathogenicity:0.0 [1/1]; 1:201331950G>A NM_000364.3:c.600+474C>T:p.(=) pathogenicity:0.0 [./.]; 1:201332886G>T NM_000364.3:c.490-352C>A:p.(=) pathogenicity:0.0 [1/1]; 1:201334382G>A NM_000364.3:c.348C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201334795C>T NM_000364.3:c.237G>A:p.(=) pathogenicity:0.0 [0/1]; 1:201335899C>T NM_000364.3:c.233+67G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201336386T>C NM_000364.3:c.200-387A>G:p.(=) pathogenicity:0.0 [./.]; 1:201336641G>A NM_000364.3:c.199+258C>T:p.(=) pathogenicity:0.0 [1/1]; 1:201336984C>T NM_000364.3:c.164-50G>A:p.(=) pathogenicity:0.0 [0/1]; 1:201337170A>G NM_000364.3:c.163+120T>C:p.(=) pathogenicity:0.0 [1/1]; 1:201338553T>C NM_000364.3:c.97+391A>G:p.(=) pathogenicity:0.0 [1/1]; 1:201338586A>G NM_000364.3:c.97+358T>C:p.(=) pathogenicity:0.0 [1/1]; 1:201338896T>C NM_000364.3:c.97+48A>G:p.(=) pathogenicity:0.0 [1/1]; 1:201339043C>T NM_000364.3:c.68-70G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201341175CAGAAG>C NM_000364.3:c.53-11_53-7del:p.? pathogenicity:0.0 [1/1]; 1:201341341C>T NM_000364.3:c.42-58G>A:p.(=) pathogenicity:0.0 [1/1]; 1:201348043G>A XM_005245470.1:: pathogenicity:0.0 [./.]; 1:201348045G>T XM_005245470.1:: pathogenicity:0.0 [./.]
110
+ 101 Deafness, autosomal dominant 71 OMIM:617605 1/8371 0.00% -9.241 NCBIGene:23312 15:51706015A>G NM_001174117.1:: pathogenicity:0.0 [1/1]; 15:51717067T>TA NM_001174117.1:: pathogenicity:0.0 [1/1]; 15:51741056G>A NM_001174116.1:c.*125C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51741579C>T NM_001174116.1:c.8905-189G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51745608CTG>C NM_001174116.1:c.8633+137_8633+138del:p.(=) pathogenicity:0.0 [1/1]; 15:51748146T>C NM_001174116.1:c.8463+117A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51748610A>G NM_001174116.1:c.8275-44T>C:p.(=) pathogenicity:0.0 [0/1]; 15:51749345C>G NM_001174116.1:c.8274+180G>C:p.(=) pathogenicity:0.0 [1/1]; 15:51749726A>C NM_001174116.1:c.8136-63T>G:p.(=) pathogenicity:0.0 [0/1]; 15:51750609C>T NM_001174116.1:c.8135+94G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51750652G>A NM_001174116.1:c.8135+51C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51750846G>A NM_001174116.1:c.8014-22C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51751091TAGCAGC>T NM_001174116.1:c.7927-105_7927-100del:p.(=) pathogenicity:0.0 [1/1]; 15:51751435T>G NM_001174116.1:c.7927-443A>C:p.(=) pathogenicity:0.0 [1/1]; 15:51757621G>A NM_001174116.1:c.7606+142C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51757826T>C NM_001174116.1:c.7543A>G:p.(M2515V) pathogenicity:1.0 [0/1]; 15:51758345CA>C NM_001174116.1:c.7520+35del:p.(=) pathogenicity:0.0 [1/1]; 15:51763249C>G NM_001174116.1:c.7392+171G>C:p.(=) pathogenicity:0.0 [1/1]; 15:51768755AT>A NM_001174116.1:c.6964+30del:p.(=) pathogenicity:0.0 [0/1]; 15:51770456AT>A NM_001174116.1:c.6833+11del:p.(=) pathogenicity:0.0 [1/1]; 15:51780722C>T NM_001174116.1:c.5051+23G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51783820T>C NM_001174116.1:c.4908A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51783981G>C NM_001174116.1:c.4784-37C>G:p.(=) pathogenicity:0.0 [0/1]; 15:51784689T>G NM_001174116.1:c.4784-745A>C:p.(=) pathogenicity:0.0 [1/1]; 15:51784694G>GT NM_001174116.1:c.4784-751_4784-750insA:p.(=) pathogenicity:0.0 [1/1]; 15:51791559A>G NM_001174116.1:c.3862T>C:p.(S1288P) pathogenicity:0.0 [0/1]; 15:51795172G>A NM_001174116.1:c.2823C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51829812G>A NM_001174116.1:c.1490C>T:p.(T497M) pathogenicity:0.0 [0/1]; 15:51829995T>C NM_001174116.1:c.1346-39A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51840194T>C NM_001174116.1:c.568-589A>G:p.(=) pathogenicity:0.0 [./.]; 15:51856190GA>G NM_001174116.1:c.500+131del:p.(=) pathogenicity:0.0 [0/1]; 15:51857220C>T NM_001174116.1:c.364+65G>A:p.(=) pathogenicity:0.0 [0/1]; 15:51865334C>A NM_001174116.1:c.213+2919G>T:p.(=) pathogenicity:0.0 [./.]; 15:51865877T>C NM_001174116.1:c.213+2376A>G:p.(=) pathogenicity:0.0 [./.]; 15:51868373A>G NM_001174116.1:c.93T>C:p.(=) pathogenicity:0.0 [0/1]; 15:51891562G>C NM_001174116.1:c.87+23094C>G:p.(=) pathogenicity:0.0 [1/1]; 15:51905498C>T NM_001174116.1:c.87+9158G>A:p.(=) pathogenicity:0.0 [./.]; 15:51914662G>A NM_001174116.1:c.81C>T:p.(=) pathogenicity:0.0 [0/1]; 15:51914716T>C NM_001174116.1:c.27A>G:p.(=) pathogenicity:0.0 [0/1]; 15:51914778T>G NM_001174116.1:c.-36A>C:p.(=) pathogenicity:0.0 [0/1]; 15:51927562C>T XM_005254257.1:: pathogenicity:0.0 [1/1]; 15:51951245C>T XM_005254257.1:: pathogenicity:0.0 [./.]; 15:51961871C>A XM_005254257.1:: pathogenicity:0.0 [1/1]
111
+ 102 Chondrodysplasia, Blomstrand type OMIM:215045 1/8371 0.00% -9.253 NCBIGene:5745 3:46910618A>C NM_000258.2:: pathogenicity:0.0 [./.]; 3:46915059C>T NM_000316.2:: pathogenicity:0.0 [0/1]; 3:46933266G>T NM_000316.2:c.76-2131G>T:p.(=) pathogenicity:0.0 [./.]; 3:46938247A>C NM_000316.2:c.313+888A>C:p.(=) pathogenicity:0.0 [1/1]; 3:46939588G>A NM_000316.2:c.449G>A:p.(R150H) pathogenicity:0.8 [0/1]; 3:46941116A>G NM_000316.2:c.988+170A>G:p.(=) pathogenicity:0.0 [1/1]; 3:46943028T>C NM_000316.2:c.1116+58T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46944274T>C NM_000316.2:c.1389T>C:p.(=) pathogenicity:0.0 [1/1]; 3:46945263G>GA NM_000316.2:c.*127dup:p.(=) pathogenicity:0.0 [1/1]; 3:46947087T>A XM_005265343.1:: pathogenicity:0.0 [1/1]; 3:46949379G>A XM_005265343.1:: pathogenicity:0.0 [./.]; 3:46957298G>A NR_102269.1:: pathogenicity:0.0 [1/1]
112
+ 103 Trichothiodystrophy 7, nonphotosensitive OMIM:618546 1/8371 0.00% -9.286 NCBIGene:6897 5:32965461T>G NR_033832.1:: pathogenicity:0.0 [1/1]; 5:32985007A>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:32985011C>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:32987516A>T NR_033832.1:: pathogenicity:0.0 [0/0]; 5:32989315T>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33050560T>C NR_033832.1:: pathogenicity:0.0 [./.]; 5:33051443G>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33067148G>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33068980G>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33073884GT>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:33083295C>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:33101807G>T NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33115754G>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33121254TAA>T NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33121997C>G NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33138348C>G NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33162034C>T NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33162962TC>T NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33162973C>A NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33165292GTT>G NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33180179GA>G NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33181656A>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:33182070T>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33202119C>T NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33223579CCA>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33229606G>A NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33230725G>T NR_033832.1:: pathogenicity:0.0 [0/0]; 5:33232822G>A NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33245010T>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33245574G>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33245575A>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33246704C>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33252557A>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33252559A>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33260963C>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33260966G>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33269303G>C NR_033832.1:: pathogenicity:0.0 [./.]; 5:33272647C>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33272696A>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:33276988T>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33277773T>C NR_033832.1:: pathogenicity:0.0 [./.]; 5:33281584G>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33281592G>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33295989AAACAT>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33297881A>G NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33311486A>T NR_033832.1:: pathogenicity:0.0 [0/0]; 5:33321247A>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:33335293T>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33338668T>C NR_033832.1:: pathogenicity:0.0 [./.]; 5:33343691C>A NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33354071G>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33354681G>T NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33354994G>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33362393T>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33363062T>C NR_033832.1:: pathogenicity:0.0 [./.]; 5:33364005G>C NR_033832.1:: pathogenicity:0.0 [./.]; 5:33365116T>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33365124A>G NR_033832.1:: pathogenicity:0.0 [./.]; 5:33401470G>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33403202A>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33404628CAT>C NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33428445G>A NR_033832.1:: pathogenicity:0.0 [1/1]; 5:33430909TAG>T NR_033832.1:: pathogenicity:0.0 [./.]; 5:33432271T>A NR_033832.1:: pathogenicity:0.0 [./.]; 5:33438532C>G NM_001258437.1:: pathogenicity:0.0 [1/1]; 5:33438533T>G NM_001258437.1:: pathogenicity:0.0 [1/1]; 5:33440810T>G NM_001258437.1:c.-129T>G:p.(=) pathogenicity:0.0 [0/1]; 5:33440946C>T NM_001258438.1:c.-247C>T:p.(=) pathogenicity:0.0 [0/1]; 5:33441124C>G NM_001258438.1:c.-69C>G:p.(=) pathogenicity:0.0 [0/1]; 5:33447997A>G NM_001258437.1:c.139-650A>G:p.(=) pathogenicity:0.0 [1/1]; 5:33448962A>AT NM_001258437.1:c.329+125_329+126insT:p.(=) pathogenicity:0.0 [1/1]; 5:33453866T>C NM_001258437.1:c.453+349T>C:p.(=) pathogenicity:0.0 [1/1]; 5:33454858C>CTT NM_001258437.1:c.454-192_454-191insTT:p.(=) pathogenicity:0.0 [1/1]; 5:33455943AT>A NM_001258437.1:c.693+135del:p.(=) pathogenicity:0.0 [0/1]; 5:33457143A>G NM_001258437.1:c.838-219A>G:p.(=) pathogenicity:0.0 [0/1]; 5:33457535T>A NM_001258437.1:c.984+27T>A:p.(=) pathogenicity:0.0 [1/1]; 5:33457618G>A NM_001258437.1:c.984+110G>A:p.(=) pathogenicity:0.0 [1/1]; 5:33457650A>G NM_001258437.1:c.984+142A>G:p.(=) pathogenicity:0.0 [1/1]; 5:33458636G>A NM_001258437.1:c.985-35G>A:p.(=) pathogenicity:0.0 [1/1]; 5:33458833T>C NM_001258437.1:c.1083+64T>C:p.(=) pathogenicity:0.0 [0/1]; 5:33458881G>A NM_001258437.1:c.1083+112G>A:p.(=) pathogenicity:0.0 [0/1]; 5:33459757A>G NM_001258437.1:c.1084-43A>G:p.(=) pathogenicity:0.0 [0/1]; 5:33462017A>G NM_001258437.1:c.1636A>G:p.(I546V) pathogenicity:1.0 [0/1]; 5:33462034G>A NM_001258437.1:c.1653G>A:p.(=) pathogenicity:0.0 [0/1]; 5:33467929T>C NM_001258437.1:c.*116T>C:p.(=) pathogenicity:0.0 [0/1]; 5:33469107T>C NM_001258438.1:: pathogenicity:0.0 [1/1]; 5:33502959G>T NM_001258438.1:: pathogenicity:0.0 [0/1]; 5:33503032A>T NM_001258438.1:: pathogenicity:0.0 [0/1]; 5:33503076C>G NM_001258438.1:: pathogenicity:0.0 [0/1]; 5:33503391C>T NM_001258438.1:: pathogenicity:0.0 [0/1]; 5:33509059C>T NM_001258438.1:: pathogenicity:0.0 [0/0]
113
+ 104 Deafness, autosomal recessive 21 OMIM:603629 1/8371 0.00% -9.289 NCBIGene:7007 11:120968462A>G NM_005422.2:: pathogenicity:0.0 [1/1]; 11:120976413G>A NM_005422.2:c.65-127G>A:p.(=) pathogenicity:0.0 [0/1]; 11:120976428A>G NM_005422.2:c.65-112A>G:p.(=) pathogenicity:0.0 [1/1]; 11:120979513T>C NM_005422.2:c.199-407T>C:p.(=) pathogenicity:0.0 [1/1]; 11:120983264A>C NM_005422.2:c.487-517A>C:p.(=) pathogenicity:0.0 [1/1]; 11:120984087C>G NM_005422.2:c.624+169C>G:p.(=) pathogenicity:0.0 [0/1]; 11:120984999G>A NM_005422.2:c.790+572G>A:p.(=) pathogenicity:0.0 [./.]; 11:121028581C>G NM_005422.2:c.4337C>G:p.(T1446R) pathogenicity:1.0 [0/1]; 11:121032978G>A NM_005422.2:c.5171G>A:p.(S1724N) pathogenicity:0.0 [1/1]; 11:121039811C>T NM_005422.2:c.5999+177C>T:p.(=) pathogenicity:0.0 [1/1]; 11:121065345C>A XM_005271653.1:: pathogenicity:0.0 [1/1]; 11:121076227G>A NM_006918.4:: pathogenicity:0.0 [./.]; 11:121083812T>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121085567C>A NM_006918.4:: pathogenicity:0.0 [./.]; 11:121090812A>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121090822A>G NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093473C>T NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093474A>G NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093676T>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121093766T>C NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121098681A>G NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121100764G>T NM_006918.4:: pathogenicity:0.0 [./.]; 11:121108907C>A NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121111458C>A NM_006918.4:: pathogenicity:0.0 [1/1]; 11:121114571C>T NM_006918.4:: pathogenicity:0.0 [1/1]
114
+ 105 Pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 1/8371 0.00% -9.327 NCBIGene:10058 2:220074442T>C XM_005246215.1:: pathogenicity:0.0 [0/1]; 2:220078496T>C NM_005689.2:c.1578+52A>G:p.(=) pathogenicity:0.0 [1/1]; 2:220081475C>T NM_005689.2:c.767G>A:p.(R256Q) pathogenicity:0.9 [0/1]; 2:220083279C>T NM_005689.2:c.117G>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083453G>T NM_005689.2:c.-58C>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083655C>T NM_005689.2:c.-260G>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083814A>G NM_005689.2:: pathogenicity:0.0 [1/1]
115
+ 106 Dyschromatosis universalis hereditaria 3 OMIM:615402 1/8371 0.00% -9.327 NCBIGene:10058 2:220074442T>C XM_005246215.1:: pathogenicity:0.0 [0/1]; 2:220078496T>C NM_005689.2:c.1578+52A>G:p.(=) pathogenicity:0.0 [1/1]; 2:220081475C>T NM_005689.2:c.767G>A:p.(R256Q) pathogenicity:0.9 [0/1]; 2:220083279C>T NM_005689.2:c.117G>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083453G>T NM_005689.2:c.-58C>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083655C>T NM_005689.2:c.-260G>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083814A>G NM_005689.2:: pathogenicity:0.0 [1/1]
116
+ 107 Microphthalmia, isolated, with coloboma 7 OMIM:614497 1/8371 0.00% -9.327 NCBIGene:10058 2:220074442T>C XM_005246215.1:: pathogenicity:0.0 [0/1]; 2:220078496T>C NM_005689.2:c.1578+52A>G:p.(=) pathogenicity:0.0 [1/1]; 2:220081475C>T NM_005689.2:c.767G>A:p.(R256Q) pathogenicity:0.9 [0/1]; 2:220083279C>T NM_005689.2:c.117G>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083453G>T NM_005689.2:c.-58C>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083655C>T NM_005689.2:c.-260G>A:p.(=) pathogenicity:0.0 [1/1]; 2:220083814A>G NM_005689.2:: pathogenicity:0.0 [1/1]
117
+ 108 Aortic aneurysm, familial thoracic 12 OMIM:619825 1/8371 0.00% -9.366 NCBIGene:79875 15:71415301T>C XM_005254678.1:c.-80+7264T>C:p.(=) pathogenicity:0.0 [./.]; 15:71429147A>C XM_005254678.1:c.-79-4641A>C:p.(=) pathogenicity:0.0 [./.]; 15:71437895CA>C NM_024817.2:c.29+4001del:p.(=) pathogenicity:0.0 [1/1]; 15:71454602G>T NM_024817.2:c.99+7331G>T:p.(=) pathogenicity:0.0 [1/1]; 15:71456314A>G NM_024817.2:c.99+9043A>G:p.(=) pathogenicity:0.0 [0/1]; 15:71456705CTT>C NM_024817.2:c.99+9435_99+9436del:p.(=) pathogenicity:0.0 [0/1]; 15:71457127T>A NM_024817.2:c.99+9856T>A:p.(=) pathogenicity:0.0 [0/1]; 15:71457690C>CAA NM_024817.2:c.99+10419_99+10420insAA:p.(=) pathogenicity:0.0 [0/1]; 15:71457899G>A NM_024817.2:c.99+10628G>A:p.(=) pathogenicity:0.0 [0/1]; 15:71484950C>T NM_024817.2:c.100-22424C>T:p.(=) pathogenicity:0.0 [./.]; 15:71499523A>G NM_024817.2:c.100-7851A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71503141G>A NM_024817.2:c.100-4233G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71503202T>C NM_024817.2:c.100-4172T>C:p.(=) pathogenicity:0.0 [1/1]; 15:71513693C>T NM_024817.2:c.464+5955C>T:p.(=) pathogenicity:0.0 [./.]; 15:71518235A>T NM_024817.2:c.464+10497A>T:p.(=) pathogenicity:0.0 [1/1]; 15:71520765T>C NM_024817.2:c.464+13027T>C:p.(=) pathogenicity:0.0 [1/1]; 15:71529459G>A NM_024817.2:c.465-5529G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71529661G>T NM_024817.2:c.465-5327G>T:p.(=) pathogenicity:0.0 [./.]; 15:71529667G>A NM_024817.2:c.465-5321G>A:p.(=) pathogenicity:0.0 [./.]; 15:71535458G>C NM_024817.2:c.912+23G>C:p.(=) pathogenicity:0.0 [0/1]; 15:71543445C>A NM_024817.2:c.913-5507C>A:p.(=) pathogenicity:0.0 [0/1]; 15:71548937T>C NM_024817.2:c.913-15T>C:p.(=) pathogenicity:0.0 [0/1]; 15:71548995C>T NM_024817.2:c.956C>T:p.(A319V) pathogenicity:1.0 [0/1]; 15:71556375C>T NM_024817.2:c.1015+7321C>T:p.(=) pathogenicity:0.0 [./.]; 15:71574821CA>C NM_024817.2:c.1015+25768del:p.(=) pathogenicity:0.0 [./.]; 15:71603498A>G NM_024817.2:c.1015+54444A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71603623T>C NM_024817.2:c.1015+54569T>C:p.(=) pathogenicity:0.0 [1/1]; 15:71604250G>A NM_024817.2:c.1015+55196G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71605657A>G NM_024817.2:c.1015+56603A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71605799G>T NM_024817.2:c.1015+56745G>T:p.(=) pathogenicity:0.0 [1/1]; 15:71619811GC>G NM_024817.2:c.1015+70758del:p.(=) pathogenicity:0.0 [1/1]; 15:71635196C>A NM_024817.2:c.1016-68830C>A:p.(=) pathogenicity:0.0 [./.]; 15:71648497A>G NM_024817.2:c.1016-55529A>G:p.(=) pathogenicity:0.0 [./.]; 15:71662282G>T NM_024817.2:c.1016-41744G>T:p.(=) pathogenicity:0.0 [1/1]; 15:71691431C>T NM_024817.2:c.1016-12595C>T:p.(=) pathogenicity:0.0 [1/1]; 15:71691438T>C NM_024817.2:c.1016-12588T>C:p.(=) pathogenicity:0.0 [1/1]; 15:71695223T>A NM_024817.2:c.1016-8803T>A:p.(=) pathogenicity:0.0 [1/1]; 15:71697440A>C NM_024817.2:c.1016-6586A>C:p.(=) pathogenicity:0.0 [./.]; 15:71701436C>T NM_024817.2:c.1016-2590C>T:p.(=) pathogenicity:0.0 [1/1]; 15:71701495C>T NM_024817.2:c.1016-2531C>T:p.(=) pathogenicity:0.0 [1/1]; 15:71703827A>G NM_024817.2:c.1016-199A>G:p.(=) pathogenicity:0.0 [0/0]; 15:71707884G>T NM_024817.2:c.1152+3722G>T:p.(=) pathogenicity:0.0 [1/1]; 15:71707889A>G NM_024817.2:c.1152+3727A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71718442A>T NM_024817.2:c.1152+14280A>T:p.(=) pathogenicity:0.0 [./.]; 15:71722042G>C NM_024817.2:c.1152+17880G>C:p.(=) pathogenicity:0.0 [1/1]; 15:71727218A>G NM_024817.2:c.1152+23056A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71729913G>A NM_024817.2:c.1152+25751G>A:p.(=) pathogenicity:0.0 [0/0]; 15:71731334A>G NM_024817.2:c.1152+27172A>G:p.(=) pathogenicity:0.0 [./.]; 15:71734022A>G NM_024817.2:c.1152+29860A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71734025T>C NM_024817.2:c.1152+29863T>C:p.(=) pathogenicity:0.0 [1/1]; 15:71735772C>CCT NM_024817.2:c.1152+31610_1152+31611insCT:p.(=) pathogenicity:0.0 [1/1]; 15:71738740C>G NM_024817.2:c.1152+34578C>G:p.(=) pathogenicity:0.0 [1/1]; 15:71738743C>A NM_024817.2:c.1152+34581C>A:p.(=) pathogenicity:0.0 [1/1]; 15:71742364C>G NM_024817.2:c.1152+38202C>G:p.(=) pathogenicity:0.0 [1/1]; 15:71742553G>T NM_024817.2:c.1152+38391G>T:p.(=) pathogenicity:0.0 [1/1]; 15:71770388T>A NM_024817.2:c.1152+66226T>A:p.(=) pathogenicity:0.0 [1/1]; 15:71772931A>G NM_024817.2:c.1152+68769A>G:p.(=) pathogenicity:0.0 [./.]; 15:71773333C>T NM_024817.2:c.1152+69171C>T:p.(=) pathogenicity:0.0 [1/1]; 15:71793359A>T NM_024817.2:c.1152+89197A>T:p.(=) pathogenicity:0.0 [1/1]; 15:71810524G>A NM_024817.2:c.1152+106362G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71822565C>T NM_024817.2:c.1152+118403C>T:p.(=) pathogenicity:0.0 [1/1]; 15:71824815ATT>A NM_024817.2:c.1152+120654_1152+120655del:p.(=) pathogenicity:0.0 [1/1]; 15:71828726A>C NM_024817.2:c.1153-124143A>C:p.(=) pathogenicity:0.0 [1/1]; 15:71838170A>G NM_024817.2:c.1153-114699A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71844397G>A NM_024817.2:c.1153-108472G>A:p.(=) pathogenicity:0.0 [0/1]; 15:71852133G>A NM_024817.2:c.1153-100736G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71852239T>C NM_024817.2:c.1153-100630T>C:p.(=) pathogenicity:0.0 [./.]; 15:71859935A>ACCCCCCC NM_024817.2:c.1153-92934_1153-92933insCCCCCCC:p.(=) pathogenicity:0.0 [./.]; 15:71863398A>T NM_024817.2:c.1153-89471A>T:p.(=) pathogenicity:0.0 [./.]; 15:71897171A>C NM_024817.2:c.1153-55698A>C:p.(=) pathogenicity:0.0 [./.]; 15:71912583G>A NM_024817.2:c.1153-40286G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71918027T>G NM_024817.2:c.1153-34842T>G:p.(=) pathogenicity:0.0 [./.]; 15:71920065G>A NM_024817.2:c.1153-32804G>A:p.(=) pathogenicity:0.0 [./.]; 15:71926387A>G NM_024817.2:c.1153-26482A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71926524C>T NM_024817.2:c.1153-26345C>T:p.(=) pathogenicity:0.0 [1/1]; 15:71926537A>G NM_024817.2:c.1153-26332A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71926559T>G NM_024817.2:c.1153-26310T>G:p.(=) pathogenicity:0.0 [1/1]; 15:71926587CT>C NM_024817.2:c.1153-26281del:p.(=) pathogenicity:0.0 [1/1]; 15:71947270T>C NM_024817.2:c.1153-5599T>C:p.(=) pathogenicity:0.0 [1/1]; 15:71951045A>G NM_024817.2:c.1153-1824A>G:p.(=) pathogenicity:0.0 [1/1]; 15:71952772C>A NM_024817.2:c.1153-97C>A:p.(=) pathogenicity:0.0 [0/1]; 15:71952899G>A NM_024817.2:c.1183G>A:p.(D395N) pathogenicity:0.0 [0/1]; 15:71953045G>A NM_024817.2:c.1329G>A:p.(=) pathogenicity:0.0 [0/1]; 15:71981042ATC>A NM_024817.2:c.1357+27970_1357+27971del:p.(=) pathogenicity:0.0 [./.]; 15:71985319G>GATA NM_024817.2:c.1357+32246_1357+32247insATA:p.(=) pathogenicity:0.0 [1/1]; 15:71989305A>G NM_024817.2:c.1358-31583A>G:p.(=) pathogenicity:0.0 [0/1]; 15:71991979G>A NM_024817.2:c.1358-28909G>A:p.(=) pathogenicity:0.0 [1/1]; 15:71994762G>A NM_024817.2:c.1358-26126G>A:p.(=) pathogenicity:0.0 [./.]; 15:72002441A>G NM_024817.2:c.1358-18447A>G:p.(=) pathogenicity:0.0 [./.]; 15:72005193G>A NM_024817.2:c.1358-15695G>A:p.(=) pathogenicity:0.0 [./.]; 15:72005267C>T NM_024817.2:c.1358-15621C>T:p.(=) pathogenicity:0.0 [./.]; 15:72010949G>A NM_024817.2:c.1358-9939G>A:p.(=) pathogenicity:0.0 [./.]; 15:72010954A>G NM_024817.2:c.1358-9934A>G:p.(=) pathogenicity:0.0 [./.]; 15:72016522G>A NM_024817.2:c.1358-4366G>A:p.(=) pathogenicity:0.0 [1/1]; 15:72016866C>T NM_024817.2:c.1358-4022C>T:p.(=) pathogenicity:0.0 [./.]; 15:72016870A>T NM_024817.2:c.1358-4018A>T:p.(=) pathogenicity:0.0 [./.]; 15:72016876A>G NM_024817.2:c.1358-4012A>G:p.(=) pathogenicity:0.0 [./.]; 15:72016923CT>C NM_024817.2:c.1358-3964del:p.(=) pathogenicity:0.0 [./.]; 15:72040774C>T NM_024817.2:c.2256C>T:p.(=) pathogenicity:0.0 [1/1]; 15:72041134C>A NM_024817.2:c.2415+201C>A:p.(=) pathogenicity:0.0 [1/1]; 15:72050163C>G NM_024817.2:c.2416-78C>G:p.(=) pathogenicity:0.0 [0/0]; 15:72070067A>G NM_024817.2:c.*354A>G:p.(=) pathogenicity:0.0 [1/1]; 15:72070929G>A NM_024817.2:c.*1216G>A:p.(=) pathogenicity:0.0 [1/1]; 15:72071236A>G NM_024817.2:c.*1523A>G:p.(=) pathogenicity:0.0 [1/1]; 15:72072185C>CT NM_024817.2:c.*2483dup:p.(=) pathogenicity:0.0 [./1]; 15:72072185C>CTT NM_024817.2:c.*2482_*2483dup:p.(=) pathogenicity:0.0 [./1]; 15:72072497C>T NM_024817.2:c.*2784C>T:p.(=) pathogenicity:0.0 [1/1]; 15:72072557C>T NM_024817.2:c.*2844C>T:p.(=) pathogenicity:0.0 [1/1]; 15:72073003C>T NM_024817.2:c.*3290C>T:p.(=) pathogenicity:0.0 [1/1]; 15:72073939C>G NM_024817.2:c.*4226C>G:p.(=) pathogenicity:0.0 [./.]; 15:72074590A>AG NM_024817.2:c.*4886dup:p.(=) pathogenicity:0.0 [1/1]; 15:72078763A>G NM_024817.2:: pathogenicity:0.0 [1/1]; 15:72084834C>T NM_016346.3:: pathogenicity:0.0 [1/1]; 15:72092792C>G NM_016346.3:: pathogenicity:0.0 [1/1]; 15:72098672A>G NM_016346.3:: pathogenicity:0.0 [./.]; 15:72099216G>A NM_016346.3:: pathogenicity:0.0 [./.]
118
+ 109 Adams-Oliver syndrome 5 OMIM:616028 1/8371 0.00% -9.366 NCBIGene:4851 9:139389184A>G NM_017617.3:c.*1339T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139390397C>T NM_017617.3:c.*126G>A:p.(=) pathogenicity:0.0 [0/1]; 9:139391636G>A NM_017617.3:c.6555C>T:p.(=) pathogenicity:0.0 [1/1]; 9:139393162G>A NM_017617.3:c.6180+189C>T:p.(=) pathogenicity:0.0 [./.]; 9:139393175A>G NM_017617.3:c.6180+176T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139396408A>G NM_017617.3:c.5473-43T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139396690C>T NM_017617.3:c.5384+34G>A:p.(=) pathogenicity:0.0 [0/1]; 9:139397707G>A NM_017617.3:c.5094C>T:p.(=) pathogenicity:0.0 [1/1]; 9:139400299C>A NM_017617.3:c.4049G>T:p.(R1350L) pathogenicity:0.8 [0/1]; 9:139400904C>T NM_017617.3:c.4014+75G>A:p.(=) pathogenicity:0.0 [1/1]; 9:139401504G>A NM_017617.3:c.3644-79C>T:p.(=) pathogenicity:0.0 [1/1]; 9:139402663T>C NM_017617.3:c.3325+21A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139402908T>C NM_017617.3:c.3172-71A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139402959A>G NM_017617.3:c.3172-122T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139403240T>TG NM_017617.3:c.3171+81_3171+82insC:p.(=) pathogenicity:0.0 [1/1]; 9:139403268T>C NM_017617.3:c.3171+54A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139403554T>C NM_017617.3:c.2970-31A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139405261C>T NM_017617.3:c.2588-4G>A:p.? pathogenicity:0.0 [0/1]; 9:139405501A>G NM_017617.3:c.2587+103T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139407452C>T NM_017617.3:c.2467+21G>A:p.(=) pathogenicity:0.0 [0/1]; 9:139407932A>G NM_017617.3:c.2265T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139410177T>C NM_017617.3:c.1670-9A>G:p.(=) pathogenicity:0.0 [0/1]; 9:139410424A>G NM_017617.3:c.1669+9T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139410589A>G NM_017617.3:c.1556-43T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139410679T>C NM_017617.3:c.1556-133A>G:p.(=) pathogenicity:0.0 [0/1]; 9:139411103A>C NM_017617.3:c.1556-557T>G:p.(=) pathogenicity:0.0 [./.]; 9:139411622G>A NM_017617.3:c.1555+102C>T:p.(=) pathogenicity:0.0 [0/1]; 9:139411714T>C NM_017617.3:c.1555+10A>G:p.(=) pathogenicity:0.0 [0/1]; 9:139411880G>A NM_017617.3:c.1442-43C>T:p.(=) pathogenicity:0.0 [0/1]; 9:139412073T>C NM_017617.3:c.1441+131A>G:p.(=) pathogenicity:0.0 [./.]; 9:139412197G>A NM_017617.3:c.1441+7C>T:p.? pathogenicity:0.0 [0/1]; 9:139412884C>T NM_017617.3:c.1100-140G>A:p.(=) pathogenicity:0.0 [./.]; 9:139417689G>T NM_017617.3:c.404-49C>A:p.(=) pathogenicity:0.0 [0/1]; 9:139418260A>G NM_017617.3:c.312T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139420776C>T NM_017617.3:c.141-2345G>A:p.(=) pathogenicity:0.0 [1/1]
119
+ 110 Bent bone dysplasia syndrome OMIM:614592 1/8371 0.00% -9.374 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
120
+ 111 Lacrimoauriculodentodigital syndrome OMIM:149730 1/8371 0.00% -9.374 NCBIGene:2263 10:122945609T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952949G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122952977T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122955099G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956457A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122956466T>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:122957629C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957907T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957909T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122957978G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966192T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122966199G>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122988285G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990333G>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990338A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:122990486T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:122990491T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123003782AG>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123012755GC>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123018937A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123019020T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123021889T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123023456C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123028019C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123031237T>TC XR_246197.1:: pathogenicity:0.0 [./.]; 10:123033831A>AAAT XR_246197.1:: pathogenicity:0.0 [./.]; 10:123044383G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123087186C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123088199C>T XR_246197.1:: pathogenicity:0.0 [0/1]; 10:123089127C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123102705C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123130834C>CAATA XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123150301A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123165700A>G XR_246197.1:: pathogenicity:0.0 [./.]; 10:123172616T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172742T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172893A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123172899A>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180679T>C XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123180685C>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184085G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123184875G>A XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123198286T>G XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123217507C>T XR_246197.1:: pathogenicity:0.0 [1/1]; 10:123232189G>A XR_246197.1:: pathogenicity:0.0 [./.]; 10:123232212A>T XR_246197.1:: pathogenicity:0.0 [./.]; 10:123238968T>C NM_000141.4:c.*403A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123239112G>A NM_001144915.1:c.2107C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123243197G>A NM_000141.4:c.2301+15C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123246732TTTCTAAGGCCAGCTCCTGCACC>T NM_000141.4:c.2057+114_2057+135del:p.(=) pathogenicity:0.0 [1/1]; 10:123247037C>T NM_000141.4:c.1987-99G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123247044T>C NM_000141.4:c.1987-106A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123248663C>T NM_000141.4:c.1864-1036G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123250248G>A NM_000141.4:c.1864-2621C>T:p.(=) pathogenicity:0.0 [1/1]; 10:123263616C>T NM_000141.4:c.1288-161G>A:p.(=) pathogenicity:0.0 [0/1]; 10:123279745C>T NM_000141.4:c.749-62G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123281491A>C NM_000141.4:c.749-1808T>G:p.(=) pathogenicity:0.0 [./.]; 10:123281870G>A NM_000141.4:c.749-2187C>T:p.(=) pathogenicity:0.0 [./.]; 10:123287104CA>C NM_000141.4:c.749-7422del:p.(=) pathogenicity:0.0 [1/1]; 10:123287703T>C NM_000141.4:c.749-8020A>G:p.(=) pathogenicity:0.0 [./.]; 10:123287727T>C NM_000141.4:c.749-8044A>G:p.(=) pathogenicity:0.0 [./.]; 10:123297240A>AAG NM_000141.4:c.748+865_748+866insCT:p.(=) pathogenicity:0.0 [1/1]; 10:123298158T>C NM_000141.4:c.696A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123313847C>CT NM_000141.4:c.455-2875_455-2874insA:p.(=) pathogenicity:0.0 [0/0]; 10:123329429T>G NM_000141.4:c.110-4211A>C:p.(=) pathogenicity:0.0 [1/1]; 10:123331165C>A NM_000141.4:c.110-5947G>T:p.(=) pathogenicity:0.0 [1/1]; 10:123340633T>C NM_000141.4:c.109+12590A>G:p.(=) pathogenicity:0.0 [1/1]; 10:123350521GCA>G NM_000141.4:c.109+2700_109+2701del:p.(=) pathogenicity:0.0 [0/1]; 10:123353267C>A NM_000141.4:c.65G>T:p.(R22L) pathogenicity:1.0 [0/1]; 10:123356175A>T NM_000141.4:c.-151+1301T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123356197A>T NM_000141.4:c.-151+1279T>A:p.(=) pathogenicity:0.0 [1/1]; 10:123357482T>C NM_000141.4:c.-157A>G:p.(=) pathogenicity:0.0 [0/1]; 10:123357561C>T NM_000141.4:c.-236G>A:p.(=) pathogenicity:0.0 [1/1]; 10:123360913T>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123360914G>C NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123361741AAAAC>A NM_001144919.1:: pathogenicity:0.0 [1/1]; 10:123366924A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123377377C>A XM_005269460.1:: pathogenicity:0.0 [0/0]; 10:123403292A>G XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403293C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123403944A>G XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123412894TAA>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123426771TATGG>T XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123435538G>GCA XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123442841G>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464764C>A XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123464783C>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123468092A>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123473173A>G XM_005269460.1:: pathogenicity:0.0 [0/1]; 10:123480130A>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123487931T>TG XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123488061G>T XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123488067T>C XM_005269460.1:: pathogenicity:0.0 [1/1]; 10:123495024G>A XM_005269460.1:: pathogenicity:0.0 [./.]; 10:123498473A>T XM_005269460.1:: pathogenicity:0.0 [1/1]
121
+ 112 Toe syndactyly, telecanthus, and anogenital and renal malformations OMIM:300707 1/8371 0.00% -9.391 NCBIGene:92002 X:152848425A>C NM_021949.3:: pathogenicity:0.0 [1/1]; X:152848459T>G NM_021949.3:: pathogenicity:0.0 [1/1]; X:152850715C>CTCTT NM_021949.3:: pathogenicity:0.0 [1/1]; X:152851630T>TTTGTC NM_021949.3:: pathogenicity:0.0 [1/1]; X:152857820G>A NM_001130997.2:c.657+144C>T:p.(=) pathogenicity:0.0 [0/1]; X:152858047CG>C NM_001130997.2:c.573del:p.(I191Ifs*15) pathogenicity:1.0 [0/1]; X:152858927AG>A NM_001130997.2:c.430-737del:p.(=) pathogenicity:0.0 [./.]; X:152861390G>A NM_001130997.2:c.296+72C>T:p.(=) pathogenicity:0.0 [0/1]; X:152861730A>G NM_001130997.2:c.113-85T>C:p.(=) pathogenicity:0.0 [0/1]; X:152864477G>GC NM_001130997.2:c.55dup:p.(Q19Afs*39) pathogenicity:0.0 [1/1]; X:152864513G>GC NM_001130997.2:c.18dup:p.(G7Rfs*51) pathogenicity:0.0 [0/0]; X:152865666C>G NM_152274.4:: pathogenicity:0.0 [./.]; X:152870241G>T NM_001395.2:: pathogenicity:0.0 [0/1]; X:152870242A>T NM_001395.2:: pathogenicity:0.0 [0/1]; X:152874801A>G NM_001395.2:: pathogenicity:0.0 [./.]; X:152875193A>T NM_001395.2:: pathogenicity:0.0 [1/1]; X:152876697G>A NM_001395.2:: pathogenicity:0.0 [1/1]; X:152898384C>T NM_001395.2:: pathogenicity:0.0 [0/1]; X:152902035G>GC NM_001395.2:: pathogenicity:0.0 [1/1]
122
+ 113 Epilepsy, familial temporal lobe, 5 OMIM:614417 1/8371 0.00% -9.422 NCBIGene:57094 8:68272023G>A XM_005251134.1:: pathogenicity:0.0 [1/1]; 8:68311113CTT>C XM_005251134.1:: pathogenicity:0.0 [./.]; 8:68334782G>A NM_020361.4:c.1271C>T:p.(A424V) pathogenicity:1.0 [0/1]; 8:68347863ATG>A NM_020361.4:c.839-1390_839-1389del:p.(=) pathogenicity:0.0 [0/1]; 8:68348487A>G NM_020361.4:c.839-2012T>C:p.(=) pathogenicity:0.0 [1/1]; 8:68355456T>C NM_020361.4:c.839-8981A>G:p.(=) pathogenicity:0.0 [1/1]; 8:68421565A>G NM_020361.4:c.534+187T>C:p.(=) pathogenicity:0.0 [0/1]; 8:68421998T>C NM_020361.4:c.433-145A>G:p.(=) pathogenicity:0.0 [0/0]; 8:68462201T>C NM_020361.4:c.193-31919A>G:p.(=) pathogenicity:0.0 [./.]; 8:68462304A>G NM_020361.4:c.193-32022T>C:p.(=) pathogenicity:0.0 [./.]; 8:68474641A>G NM_020361.4:c.193-44359T>C:p.(=) pathogenicity:0.0 [1/1]; 8:68569931A>T NM_020361.4:c.117-33445T>A:p.(=) pathogenicity:0.0 [1/1]; 8:68603370C>T NM_020361.4:c.116+54879G>A:p.(=) pathogenicity:0.0 [./.]; 8:68662662A>G NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68698420T>A NM_020361.4:: pathogenicity:0.0 [./.]; 8:68725862G>A NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68725959A>G NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68728131T>TC NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68740862C>T NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68745786C>G NM_020361.4:: pathogenicity:0.0 [./.]; 8:68752448C>T NM_020361.4:: pathogenicity:0.0 [./.]; 8:68759522C>T NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68775817T>C NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68804242T>C NM_020361.4:: pathogenicity:0.0 [./.]; 8:68856803G>A NM_020361.4:: pathogenicity:0.0 [1/1]; 8:68860423A>G XM_005251312.1:: pathogenicity:0.0 [1/1]
123
+ 114 Palmoplantar keratoderma with congenital alopecia OMIM:104100 1/8371 0.00% -9.468 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
124
+ 115 Syndactyly, type III OMIM:186100 1/8371 0.00% -9.468 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
125
+ 116 Hypoplastic left heart syndrome OMIM:241550 1/8371 0.00% -9.468 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
126
+ 117 Atrioventricular septal defect 3 OMIM:600309 1/8371 0.00% -9.468 NCBIGene:2697 6:121701733C>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121701985CT>C XM_005266861.1:: pathogenicity:0.0 [1/1]; 6:121709228G>A XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121729745G>A XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121729994GTACACA>G XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730002T>TGA XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121730650A>G XM_005266861.1:: pathogenicity:0.0 [0/0]; 6:121738969C>T XM_005266861.1:: pathogenicity:0.0 [0/1]; 6:121739801A>G XM_005266861.1:: pathogenicity:0.0 [./.]; 6:121757084A>G NM_000165.3:c.-17+106A>G:p.(=) pathogenicity:0.0 [0/1]; 6:121768699G>A NM_000165.3:c.706G>A:p.(V236I) pathogenicity:0.9 [0/1]; 6:121769905A>AT NM_000165.3:c.*773dup:p.(=) pathogenicity:0.0 [0/1]; 6:121809450G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121836362T>TTTTG NM_000165.3:: pathogenicity:0.0 [./.]; 6:121857989C>CAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121880939G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:121884929G>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121904870T>G NM_000165.3:: pathogenicity:0.0 [0/1]; 6:121905686A>AAAAT NM_000165.3:: pathogenicity:0.0 [./.]; 6:121907225T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:121958168A>AAAG NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121962207A>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121975563A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121977549T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:121989296G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001307G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001385C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122001743T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122005073A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122006130C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122020965A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021680C>CAA NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122021882A>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122030290C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122030293A>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122038796T>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122040346C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122050860C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122051142G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122051143G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122052145G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122062937C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122125094T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122225035C>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122290881T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122292845T>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122301496T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122319875CTTT>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122322464T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122323858T>C NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122331651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331733G>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122331742C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122344111G>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122346667G>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122358547C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122418275C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122431692C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122432585C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122459832T>C NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122491037G>GT NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122562949T>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122574069G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122636651A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122650534C>T NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122682277C>A NM_000165.3:: pathogenicity:0.0 [0/1]; 6:122682327C>A NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122684658G>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686952G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122686954A>G NM_000165.3:: pathogenicity:0.0 [./.]; 6:122687584A>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122687648C>G NM_000165.3:: pathogenicity:0.0 [1/1]; 6:122688288G>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122690880T>C NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698043C>A NM_000165.3:: pathogenicity:0.0 [./.]; 6:122698053C>T NM_000165.3:: pathogenicity:0.0 [./.]; 6:122712859T>C NM_000165.3:: pathogenicity:0.0 [./.]
127
+ 118 Autoimmune disease, susceptibility to, 1 OMIM:607836 1/8371 0.00% -9.485 NCBIGene:27022 1:63789088C>T NM_012183.2:c.359C>T:p.(P120L) pathogenicity:0.9 [0/1]; 1:63794113A>T NM_012183.2:: pathogenicity:0.0 [./.]
128
+ 119 Cataract 45 OMIM:616851 1/8371 0.00% -9.608 NCBIGene:23094 19:38397554C>A XM_005258672.1:c.-823C>A:p.(=) pathogenicity:0.0 [0/1]; 19:38398079C>T NM_015073.1:c.-379+81C>T:p.(=) pathogenicity:0.0 [0/0]; 19:38421949T>C NM_015073.1:c.-379+23951T>C:p.(=) pathogenicity:0.0 [1/1]; 19:38423737C>G NM_015073.1:c.-379+25739C>G:p.(=) pathogenicity:0.0 [0/0]; 19:38442270G>A NM_015073.1:c.-379+44272G>A:p.(=) pathogenicity:0.0 [1/1]; 19:38445328A>T NM_015073.1:c.-379+47330A>T:p.(=) pathogenicity:0.0 [./.]; 19:38501051TAA>T NM_015073.1:c.-378-18677_-378-18676del:p.(=) pathogenicity:0.0 [1/1]; 19:38525403G>A NM_015073.1:c.-311+5607G>A:p.(=) pathogenicity:0.0 [./.]; 19:38531422T>A NM_015073.1:c.-311+11626T>A:p.(=) pathogenicity:0.0 [1/1]; 19:38538748C>A NM_015073.1:c.-311+18952C>A:p.(=) pathogenicity:0.0 [0/0]; 19:38554304C>T NM_015073.1:c.-310-17592C>T:p.(=) pathogenicity:0.0 [1/1]; 19:38571609CAAA>C NM_015073.1:c.-310-286_-310-284del:p.(=) pathogenicity:0.0 [1/1]; 19:38572894C>T NM_015073.1:c.689C>T:p.(P230L) pathogenicity:0.0 [0/1]; 19:38573139G>T NM_015073.1:c.934G>T:p.(G312W) pathogenicity:0.0 [0/1]; 19:38584306AG>A NM_015073.1:c.1665+4816del:p.(=) pathogenicity:0.0 [./.]; 19:38589731A>G NM_015073.1:c.1666-871A>G:p.(=) pathogenicity:0.0 [0/0]; 19:38590700T>C NM_015073.1:c.1764T>C:p.(=) pathogenicity:0.0 [0/1]; 19:38601664GTTT>G NM_015073.1:c.2291+641_2291+643del:p.(=) pathogenicity:0.0 [1/1]; 19:38609551C>CTGTT NM_015073.1:c.2292-395_2292-394insTGTT:p.(=) pathogenicity:0.0 [./.]; 19:38610523G>T NM_015073.1:c.2868+1G>T:p.? pathogenicity:1.0 [0/1]; 19:38621473G>A NM_015073.1:c.3143+61G>A:p.(=) pathogenicity:0.0 [1/1]; 19:38633159C>T NM_015073.1:c.3396-54C>T:p.(=) pathogenicity:0.0 [0/1]; 19:38652993C>T NM_015073.1:c.3762T>T:p.(=) pathogenicity:0.0 [0/1]; 19:38653097A>C NM_015073.1:c.3780+86A>C:p.(=) pathogenicity:0.0 [0/1]; 19:38660992G>A NM_015073.1:c.4208+5446G>A:p.(=) pathogenicity:0.0 [1/1]; 19:38661471G>T NM_015073.1:c.4208+5925G>T:p.(=) pathogenicity:0.0 [0/0]; 19:38661480G>A NM_015073.1:c.4208+5934G>A:p.(=) pathogenicity:0.0 [0/0]; 19:38687075C>CGG NM_015073.1:c.4841-1954_4841-1953insGG:p.(=) pathogenicity:0.0 [0/1]; 19:38687076A>AGCAAGGAGGTCAAGGGCAGAGCATGGAGGTCAAGGGCG NM_015073.1:c.4841-1953_4841-1952insGCAAGGAGGTCAAGGGCAGAGCATGGAGGTCAAGGGCG:p.(=) pathogenicity:0.0 [0/1]; 19:38697054G>A NM_015073.1:c.*174G>A:p.(=) pathogenicity:0.0 [0/1]; 19:38698634G>C NM_015073.1:c.*1754G>C:p.(=) pathogenicity:0.0 [0/1]; 19:38698641A>C NM_015073.1:c.*1761A>C:p.(=) pathogenicity:0.0 [0/1]; 19:38698647A>C NM_015073.1:c.*1767A>C:p.(=) pathogenicity:0.0 [0/1]; 19:38698997G>T NM_015073.1:c.*2117G>T:p.(=) pathogenicity:0.0 [0/1]; 19:38701230C>A XM_005258671.1:: pathogenicity:0.0 [0/1]
129
+ 120 Van maldergem syndrome 1 OMIM:601390 1/8371 0.00% -9.636 NCBIGene:8642 11:6643976C>T NM_003737.2:c.8931G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6644600C>T NM_003737.2:c.8307G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6644801A>C NM_003737.2:c.8106T>G:p.(H2702Q) pathogenicity:1.0 [0/1]; 11:6647622T>C NM_003737.2:c.6365-11A>G:p.(=) pathogenicity:0.0 [0/1]; 11:6647931C>T NM_003737.2:c.6251-35G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6647978C>T NM_003737.2:c.6250+42G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6648424G>A NM_003737.2:c.5846C>T:p.(T1949M) pathogenicity:0.0 [0/1]; 11:6651810A>G NM_003737.2:c.4215C>C:p.(=) pathogenicity:0.0 [0/1]; 11:6652618C>T NM_003737.2:c.3696A>A:p.(=) pathogenicity:0.0 [0/1]; 11:6653232C>G NM_003737.2:c.3481+30G>C:p.(=) pathogenicity:0.0 [0/1]; 11:6654613A>G NM_003737.2:c.2455+30T>C:p.(=) pathogenicity:0.0 [1/1]; 11:6655332T>A NM_003737.2:c.1986+17A>T:p.(=) pathogenicity:0.0 [1/1]; 11:6655433G>A NM_003737.2:c.1902T>T:p.(=) pathogenicity:0.0 [1/1]; 11:6660318G>A NM_003737.2:c.1797+730C>T:p.(=) pathogenicity:0.0 [1/1]; 11:6672457G>A XM_005253207.1:c.315+4337C>T:p.(=) pathogenicity:0.0 [1/1]; 11:6673686C>T XM_005253207.1:c.315+3108G>A:p.(=) pathogenicity:0.0 [1/1]; 11:6676884A>G XM_005253207.1:c.225T>C:p.(=) pathogenicity:0.0 [0/1]; 11:6679132T>C XM_005253207.1:c.105-2128A>G:p.(=) pathogenicity:0.0 [./.]; 11:6679378TA>T XM_005253207.1:c.105-2375del:p.(=) pathogenicity:0.0 [1/1]; 11:6684511G>A XM_005253207.1:c.104+706C>T:p.(=) pathogenicity:0.0 [1/1]
130
+ 121 Febrile seizures, familial, 4 OMIM:604352 1/8371 0.00% -9.682 NCBIGene:84059 5:89828016T>TTTA NM_198273.1:: pathogenicity:0.0 [1/1]; 5:89830061A>G NM_198273.1:: pathogenicity:0.0 [1/1]; 5:89836558A>T NM_198273.1:: pathogenicity:0.0 [1/1]; 5:89854448G>C NM_032119.3:: pathogenicity:0.0 [1/1]; 5:89868937T>TCA NM_032119.3:c.22+14203_22+14204insCA:p.(=) pathogenicity:0.0 [1/1]; 5:89882618G>T NM_032119.3:c.22+27884G>T:p.(=) pathogenicity:0.0 [0/1]; 5:89914687A>G NM_032119.3:c.358-216A>G:p.(=) pathogenicity:0.0 [0/1]; 5:89918232C>A NM_032119.3:c.454-182C>A:p.(=) pathogenicity:0.0 [0/1]; 5:89918620CGATCTCAG>C NM_032119.3:c.558+103_558+110del:p.(=) pathogenicity:0.0 [0/1]; 5:89918632A>C NM_032119.3:c.558+114A>C:p.(=) pathogenicity:0.0 [0/1]; 5:89918634T>G NM_032119.3:c.558+116T>G:p.(=) pathogenicity:0.0 [0/1]; 5:89918636CA>C NM_032119.3:c.558+119del:p.(=) pathogenicity:0.0 [0/1]; 5:89918639CCT>C NM_032119.3:c.558+122_558+123del:p.(=) pathogenicity:0.0 [0/1]; 5:89918813G>C NM_032119.3:c.558+295G>C:p.(=) pathogenicity:0.0 [./.]; 5:89919820A>G NM_032119.3:c.559-1127A>G:p.(=) pathogenicity:0.0 [./.]; 5:89919826A>G NM_032119.3:c.559-1121A>G:p.(=) pathogenicity:0.0 [./.]; 5:89922763G>A NM_032119.3:c.673-265G>A:p.(=) pathogenicity:0.0 [./.]; 5:89923667A>T NM_032119.3:c.1238+74A>T:p.(=) pathogenicity:0.0 [1/1]; 5:89925410C>T NM_032119.3:c.1839+54C>T:p.(=) pathogenicity:0.0 [0/1]; 5:89931159CA>C NM_032119.3:c.2016+53del:p.(=) pathogenicity:0.0 [0/1]; 5:89933828AT>A NM_032119.3:c.2240+64del:p.(=) pathogenicity:0.0 [0/1]; 5:89934843A>C NM_032119.3:c.2240+1078A>C:p.(=) pathogenicity:0.0 [1/1]; 5:89937430A>G NM_032119.3:c.2241-1023A>G:p.(=) pathogenicity:0.0 [0/0]; 5:89938434G>T NM_032119.3:c.2241-19G>T:p.(=) pathogenicity:0.0 [0/1]; 5:89938587C>T NM_032119.3:c.2367+8C>T:p.? pathogenicity:0.0 [0/1]; 5:89939480G>A NM_032119.3:c.2554-140G>A:p.(=) pathogenicity:0.0 [0/1]; 5:89940005G>C NM_032119.3:c.2734+205G>C:p.(=) pathogenicity:0.0 [0/0]; 5:89940771A>G NM_032119.3:c.2898+85A>G:p.(=) pathogenicity:0.0 [0/1]; 5:89941743T>C NM_032119.3:c.2899-42T>C:p.(=) pathogenicity:0.0 [0/1]; 5:89969880A>G NM_032119.3:c.4939A>G:p.(I1647V) pathogenicity:0.3 [0/1]; 5:89981414TATAA>T NM_032119.3:c.6275-182_6275-179del:p.(=) pathogenicity:0.0 [0/1]; 5:90107108A>G NM_032119.3:c.16031A>G:p.(E5344G) pathogenicity:0.0 [1/1]; 5:90109218A>G NM_032119.3:c.16078+2063A>G:p.(=) pathogenicity:0.0 [1/1]; 5:90109230T>C NM_032119.3:c.16078+2075T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90111700T>C NM_032119.3:c.16196+147T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90119324G>A NM_032119.3:c.16279G>A:p.(V5427M) pathogenicity:0.0 [1/1]; 5:90119922T>A NM_032119.3:c.16368+509T>A:p.(=) pathogenicity:0.0 [./.]; 5:90133981A>G NM_032119.3:c.16612-2414A>G:p.(=) pathogenicity:0.0 [1/1]; 5:90151630C>G NM_032119.3:c.17667C>G:p.(H5889Q) pathogenicity:1.0 [0/1]; 5:90194889G>T NM_032119.3:c.17856+35215G>T:p.(=) pathogenicity:0.0 [1/1]; 5:90216806G>A NM_032119.3:c.17857-44426G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90229530C>A NM_032119.3:c.17857-31702C>A:p.(=) pathogenicity:0.0 [1/1]; 5:90229542A>G NM_032119.3:c.17857-31690A>G:p.(=) pathogenicity:0.0 [1/1]; 5:90232132T>C NM_032119.3:c.17857-29100T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90236647AC>A NM_032119.3:c.17857-24584del:p.(=) pathogenicity:0.0 [1/1]; 5:90238905G>A NM_032119.3:c.17857-22327G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90300039G>A NM_032119.3:c.18152+18700G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90300419A>ACT NM_032119.3:c.18152+19080_18152+19081insCT:p.(=) pathogenicity:0.0 [./.]; 5:90305586T>C NM_032119.3:c.18152+24247T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90307152C>T NM_032119.3:c.18152+25813C>T:p.(=) pathogenicity:0.0 [1/1]; 5:90311099T>G NM_032119.3:c.18152+29760T>G:p.(=) pathogenicity:0.0 [1/1]; 5:90314653G>A NM_032119.3:c.18152+33314G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90317558A>C NM_032119.3:c.18152+36219A>C:p.(=) pathogenicity:0.0 [1/1]; 5:90322671C>G NM_032119.3:c.18152+41332C>G:p.(=) pathogenicity:0.0 [1/1]; 5:90326582T>C NM_032119.3:c.18153-41682T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90330959A>C NM_032119.3:c.18153-37305A>C:p.(=) pathogenicity:0.0 [1/1]; 5:90349562A>C NM_032119.3:c.18153-18702A>C:p.(=) pathogenicity:0.0 [1/1]; 5:90356690A>G NM_032119.3:c.18153-11574A>G:p.(=) pathogenicity:0.0 [./.]; 5:90368596C>T NM_032119.3:c.18310+175C>T:p.(=) pathogenicity:0.0 [1/1]; 5:90389450A>C NM_032119.3:c.18311-8586A>C:p.(=) pathogenicity:0.0 [./.]; 5:90405193G>A NM_032119.3:c.18432+7036G>A:p.(=) pathogenicity:0.0 [./.]; 5:90445829T>TTC NM_032119.3:c.18433-18_18433-17insTC:p.(=) pathogenicity:0.0 [0/1]; 5:90449031T>C NM_032119.3:c.18625-7T>C:p.? pathogenicity:0.0 [1/1]; 5:90464827T>C XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90464937T>C XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90471077T>G XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90542492A>G XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90543970G>A XM_005248613.1:: pathogenicity:0.0 [./.]; 5:90562003G>A XM_005248613.1:: pathogenicity:0.0 [1/1]
131
+ 122 Fanconi anemia, complementation group P OMIM:613951 1/8371 0.00% -9.765 NCBIGene:84464 16:3635586CAAAA>C NM_032444.2:c.4637-718_4637-715del:p.(=) pathogenicity:0.0 [0/1]; 16:3639139A>G NM_032444.2:c.4500T>C:p.(=) pathogenicity:0.0 [0/1]; 16:3639230G>A NM_032444.2:c.4409C>T:p.(P1470L) pathogenicity:0.9 [0/1]; 16:3653995C>A NM_032444.2:c.761-1687G>T:p.(=) pathogenicity:0.0 [./.]
132
+ 123 Cardiac valvular dysplasia 2 OMIM:620067 1/8371 0.00% -9.779 NCBIGene:171019 5:128796464T>C NM_133638.3:c.73+289T>C:p.(=) pathogenicity:0.0 [0/1]; 5:128863471A>G NM_133638.3:c.1099A>G:p.(S367G) pathogenicity:0.0 [1/1]; 5:128891632A>G NM_133638.3:c.1354+4032A>G:p.(=) pathogenicity:0.0 [1/1]; 5:128900117T>A NM_133638.3:c.1354+12517T>A:p.(=) pathogenicity:0.0 [1/1]; 5:128902667G>GGACT NM_133638.3:c.1354+15067_1354+15068insGACT:p.(=) pathogenicity:0.0 [./.]; 5:128903444G>GA NM_133638.3:c.1354+15844_1354+15845insA:p.(=) pathogenicity:0.0 [1/1]; 5:128919335T>C NM_133638.3:c.1355-12917T>C:p.(=) pathogenicity:0.0 [1/1]; 5:128919336G>A NM_133638.3:c.1355-12916G>A:p.(=) pathogenicity:0.0 [1/1]; 5:128922758T>TTAAC NM_133638.3:c.1355-9494_1355-9493insTAAC:p.(=) pathogenicity:0.0 [1/1]; 5:128932138T>C NM_133638.3:c.1355-114T>C:p.(=) pathogenicity:0.0 [1/1]; 5:128957634T>G NM_133638.3:c.1602-257T>G:p.(=) pathogenicity:0.0 [0/0]; 5:128969615G>A NM_133638.3:c.1753-7937G>A:p.(=) pathogenicity:0.0 [0/0]; 5:128977732A>G NM_133638.3:c.1854+79A>G:p.(=) pathogenicity:0.0 [0/1]; 5:128984996GT>G NM_133638.3:c.2158+334del:p.(=) pathogenicity:0.0 [1/1]; 5:128990307G>A NM_133638.3:c.2286+181G>A:p.(=) pathogenicity:0.0 [1/1]; 5:128996873G>C NM_133638.3:c.2407+2443G>C:p.(=) pathogenicity:0.0 [1/1]; 5:129000952G>T NM_133638.3:c.2408-240G>T:p.(=) pathogenicity:0.0 [0/0]; 5:129009924CAA>C NM_133638.3:c.2489-5532_2489-5531del:p.(=) pathogenicity:0.0 [./.]; 5:129015668T>C NM_133638.3:c.2646+54T>C:p.(=) pathogenicity:0.0 [1/1]; 5:129020193C>CATTAT NM_133638.3:c.2800+227_2800+228insATTAT:p.(=) pathogenicity:0.0 [1/1]; 5:129025813CCA>C NM_133638.3:c.2801-4599_2801-4598del:p.(=) pathogenicity:0.0 [./.]; 5:129037267G>T NM_133638.3:c.3123G>T:p.(E1041D) pathogenicity:1.0 [0/1]; 5:129072943G>T NM_133638.3:c.*32G>T:p.(=) pathogenicity:0.0 [1/1]; 5:129073197T>G NM_133638.3:c.*286T>G:p.(=) pathogenicity:0.0 [1/1]; 5:129081915G>T NM_001257308.1:: pathogenicity:0.0 [1/1]
133
+ 124 Mitral valve prolapse, myxomatous 2 OMIM:607829 1/8371 0.00% -9.816 NCBIGene:8642 11:6643976C>T NM_003737.2:c.8931G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6644600C>T NM_003737.2:c.8307G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6644801A>C NM_003737.2:c.8106T>G:p.(H2702Q) pathogenicity:1.0 [0/1]; 11:6647622T>C NM_003737.2:c.6365-11A>G:p.(=) pathogenicity:0.0 [0/1]; 11:6647931C>T NM_003737.2:c.6251-35G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6647978C>T NM_003737.2:c.6250+42G>A:p.(=) pathogenicity:0.0 [0/1]; 11:6648424G>A NM_003737.2:c.5846C>T:p.(T1949M) pathogenicity:0.0 [0/1]; 11:6651810A>G NM_003737.2:c.4215C>C:p.(=) pathogenicity:0.0 [0/1]; 11:6652618C>T NM_003737.2:c.3696A>A:p.(=) pathogenicity:0.0 [0/1]; 11:6653232C>G NM_003737.2:c.3481+30G>C:p.(=) pathogenicity:0.0 [0/1]; 11:6654613A>G NM_003737.2:c.2455+30T>C:p.(=) pathogenicity:0.0 [1/1]; 11:6655332T>A NM_003737.2:c.1986+17A>T:p.(=) pathogenicity:0.0 [1/1]; 11:6655433G>A NM_003737.2:c.1902T>T:p.(=) pathogenicity:0.0 [1/1]; 11:6660318G>A NM_003737.2:c.1797+730C>T:p.(=) pathogenicity:0.0 [1/1]; 11:6672457G>A XM_005253207.1:c.315+4337C>T:p.(=) pathogenicity:0.0 [1/1]; 11:6673686C>T XM_005253207.1:c.315+3108G>A:p.(=) pathogenicity:0.0 [1/1]; 11:6676884A>G XM_005253207.1:c.225T>C:p.(=) pathogenicity:0.0 [0/1]; 11:6679132T>C XM_005253207.1:c.105-2128A>G:p.(=) pathogenicity:0.0 [./.]; 11:6679378TA>T XM_005253207.1:c.105-2375del:p.(=) pathogenicity:0.0 [1/1]; 11:6684511G>A XM_005253207.1:c.104+706C>T:p.(=) pathogenicity:0.0 [1/1]
134
+ 125 Spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961 1/8371 0.00% -9.842 NCBIGene:5331 11:64022459A>G NM_000932.2:c.336A>G:p.(=) pathogenicity:0.0 [1/1]; 11:64023270C>T NM_000932.2:c.675C>T:p.(=) pathogenicity:0.0 [0/1]; 11:64023752G>C NM_000932.2:c.699-96G>C:p.(=) pathogenicity:0.0 [0/1]; 11:64023971G>A NM_000932.2:c.822G>A:p.(=) pathogenicity:0.0 [0/1]; 11:64024056C>A NM_000932.2:c.866-34C>A:p.(=) pathogenicity:0.0 [1/1]; 11:64026144G>A NM_000932.2:c.1212G>A:p.(=) pathogenicity:0.0 [1/1]; 11:64026639G>A NM_000932.2:c.1448G>A:p.(R483H) pathogenicity:0.0 [0/1]; 11:64026685C>T NM_000932.2:c.1494C>T:p.(=) pathogenicity:0.0 [0/1]; 11:64027888G>A NM_000932.2:c.1731+182G>A:p.(=) pathogenicity:0.0 [./.]; 11:64030944T>C NM_000932.2:c.2356-26T>C:p.(=) pathogenicity:0.0 [1/1]; 11:64032516T>TCCCC NM_000932.2:c.2749_2752dup:p.(R918Pfs*23) pathogenicity:1.0 [0/1]; 11:64033555C>T NM_000932.2:c.3190-43C>T:p.(=) pathogenicity:0.0 [0/1]
135
+ 126 Hyperaldosteronism, familial, type IV OMIM:617027 1/8371 0.00% -9.884 NCBIGene:8912 16:1146254G>C NM_207419.3:: pathogenicity:0.0 [0/1]; 16:1163871A>AC NM_207419.3:: pathogenicity:0.0 [1/1]; 16:1168642A>C NM_207419.3:: pathogenicity:0.0 [1/1]; 16:1169707T>G NM_207419.3:: pathogenicity:0.0 [./.]; 16:1216561G>T NM_001005407.1:c.299+12525G>T:p.(=) pathogenicity:0.0 [./.]; 16:1244201G>A NM_001005407.1:c.300-771G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1244877G>A NM_001005407.1:c.300-95G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1244887T>A NM_001005407.1:c.300-85T>A:p.(=) pathogenicity:0.0 [0/1]; 16:1250389A>G NM_001005407.1:c.937A>G:p.(M313V) pathogenicity:0.0 [0/1]; 16:1250559T>C NM_001005407.1:c.1107T>C:p.(=) pathogenicity:0.0 [0/1]; 16:1251298C>T NM_001005407.1:c.1213-365C>T:p.(=) pathogenicity:0.0 [1/1]; 16:1251562G>A NM_001005407.1:c.1213-101G>A:p.(=) pathogenicity:0.0 [./.]; 16:1251568C>T NM_001005407.1:c.1213-95C>T:p.(=) pathogenicity:0.0 [./.]; 16:1251803C>T NM_001005407.1:c.1353C>T:p.(=) pathogenicity:0.0 [0/1]; 16:1251967GGGCA>G NM_001005407.1:c.1526_1529del:p.(R509Tfs*73) pathogenicity:1.0 [0/1]; 16:1252118C>T NM_001005407.1:c.1668C>T:p.(=) pathogenicity:0.0 [0/1]; 16:1252259A>G NM_001005407.1:c.1809A>G:p.(=) pathogenicity:0.0 [0/1]; 16:1252369C>T NM_001005407.1:c.1919C>T:p.(P640L) pathogenicity:0.0 [0/1]; 16:1254577T>C NM_001005407.1:c.2451+119T>C:p.(=) pathogenicity:0.0 [0/1]; 16:1255277C>T NM_001005407.1:c.2603+12C>T:p.(=) pathogenicity:0.0 [0/1]; 16:1257731G>A NM_001005407.1:c.3064-39G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1260021G>T NM_001005407.1:c.3745-14G>T:p.(=) pathogenicity:0.0 [1/1]; 16:1260354G>C NM_001005407.1:c.3846-16G>C:p.(=) pathogenicity:0.0 [0/1]; 16:1260481T>C NM_001005407.1:c.3957T>C:p.(=) pathogenicity:0.0 [1/1]; 16:1260767G>A NM_001005407.1:c.4039-20G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1261024C>T NM_001005407.1:c.4223+53C>T:p.(=) pathogenicity:0.0 [1/1]; 16:1261119G>A NM_001005407.1:c.4224-49G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1261219A>G NM_001005407.1:c.4275A>G:p.(=) pathogenicity:0.0 [1/1]; 16:1261222A>G NM_001005407.1:c.4278A>G:p.(=) pathogenicity:0.0 [1/1]; 16:1261282T>C NM_001005407.1:c.4338T>C:p.(=) pathogenicity:0.0 [1/1]; 16:1261377G>A NM_001005407.1:c.4350+83G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1263510G>A NM_001005407.1:c.4760-270G>A:p.(=) pathogenicity:0.0 [1/1]; 16:1265720C>T NM_001005407.1:c.5226+127C>T:p.(=) pathogenicity:0.0 [./.]; 16:1268494C>T NM_001005407.1:c.5712C>T:p.(=) pathogenicity:0.0 [1/1]; 16:1268758A>G NM_001005407.1:c.5869+107A>G:p.(=) pathogenicity:0.0 [1/1]; 16:1269029T>C NM_001005407.1:c.5929T>C:p.(=) pathogenicity:0.0 [1/1]; 16:1269292T>C NM_001005407.1:c.6030+162T>C:p.(=) pathogenicity:0.0 [1/1]; 16:1269740A>G NM_001005407.1:c.6031-241A>G:p.(=) pathogenicity:0.0 [./.]; 16:1269789TCA>T NM_001005407.1:c.6031-191_6031-190del:p.(=) pathogenicity:0.0 [./.]; 16:1270111G>A NM_001005407.1:c.6161G>A:p.(R2054H) pathogenicity:0.0 [0/1]; 16:1270162G>A NM_001005407.1:c.6212G>A:p.(R2071H) pathogenicity:0.0 [1/1]; 16:1270349T>C NM_001005407.1:c.6399T>C:p.(=) pathogenicity:0.0 [1/1]; 16:1271189G>A NM_001005407.1:c.*195G>A:p.(=) pathogenicity:0.0 [1/1]
136
+ 127 Aortic valve disease 1 OMIM:109730 1/8371 0.00% -9.906 NCBIGene:4851 9:139389184A>G NM_017617.3:c.*1339T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139390397C>T NM_017617.3:c.*126G>A:p.(=) pathogenicity:0.0 [0/1]; 9:139391636G>A NM_017617.3:c.6555C>T:p.(=) pathogenicity:0.0 [1/1]; 9:139393162G>A NM_017617.3:c.6180+189C>T:p.(=) pathogenicity:0.0 [./.]; 9:139393175A>G NM_017617.3:c.6180+176T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139396408A>G NM_017617.3:c.5473-43T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139396690C>T NM_017617.3:c.5384+34G>A:p.(=) pathogenicity:0.0 [0/1]; 9:139397707G>A NM_017617.3:c.5094C>T:p.(=) pathogenicity:0.0 [1/1]; 9:139400299C>A NM_017617.3:c.4049G>T:p.(R1350L) pathogenicity:0.8 [0/1]; 9:139400904C>T NM_017617.3:c.4014+75G>A:p.(=) pathogenicity:0.0 [1/1]; 9:139401504G>A NM_017617.3:c.3644-79C>T:p.(=) pathogenicity:0.0 [1/1]; 9:139402663T>C NM_017617.3:c.3325+21A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139402908T>C NM_017617.3:c.3172-71A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139402959A>G NM_017617.3:c.3172-122T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139403240T>TG NM_017617.3:c.3171+81_3171+82insC:p.(=) pathogenicity:0.0 [1/1]; 9:139403268T>C NM_017617.3:c.3171+54A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139403554T>C NM_017617.3:c.2970-31A>G:p.(=) pathogenicity:0.0 [1/1]; 9:139405261C>T NM_017617.3:c.2588-4G>A:p.? pathogenicity:0.0 [0/1]; 9:139405501A>G NM_017617.3:c.2587+103T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139407452C>T NM_017617.3:c.2467+21G>A:p.(=) pathogenicity:0.0 [0/1]; 9:139407932A>G NM_017617.3:c.2265T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139410177T>C NM_017617.3:c.1670-9A>G:p.(=) pathogenicity:0.0 [0/1]; 9:139410424A>G NM_017617.3:c.1669+9T>C:p.(=) pathogenicity:0.0 [1/1]; 9:139410589A>G NM_017617.3:c.1556-43T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139410679T>C NM_017617.3:c.1556-133A>G:p.(=) pathogenicity:0.0 [0/1]; 9:139411103A>C NM_017617.3:c.1556-557T>G:p.(=) pathogenicity:0.0 [./.]; 9:139411622G>A NM_017617.3:c.1555+102C>T:p.(=) pathogenicity:0.0 [0/1]; 9:139411714T>C NM_017617.3:c.1555+10A>G:p.(=) pathogenicity:0.0 [0/1]; 9:139411880G>A NM_017617.3:c.1442-43C>T:p.(=) pathogenicity:0.0 [0/1]; 9:139412073T>C NM_017617.3:c.1441+131A>G:p.(=) pathogenicity:0.0 [./.]; 9:139412197G>A NM_017617.3:c.1441+7C>T:p.? pathogenicity:0.0 [0/1]; 9:139412884C>T NM_017617.3:c.1100-140G>A:p.(=) pathogenicity:0.0 [./.]; 9:139417689G>T NM_017617.3:c.404-49C>A:p.(=) pathogenicity:0.0 [0/1]; 9:139418260A>G NM_017617.3:c.312T>C:p.(=) pathogenicity:0.0 [0/1]; 9:139420776C>T NM_017617.3:c.141-2345G>A:p.(=) pathogenicity:0.0 [1/1]
137
+ 128 Osteogenesis imperfecta, type V OMIM:610967 1/8371 0.00% -9.925 NCBIGene:387733 11:299219C>A NM_001025295.2:c.186+86G>T:p.(=) pathogenicity:0.0 [0/1]; 11:299411C>G NM_001025295.2:c.80G>C:p.(G27A) pathogenicity:0.0 [0/1]; 11:299471C>T NM_001025295.2:c.20G>A:p.(R7H) pathogenicity:1.0 [0/1]; 11:300134A>G NM_001025295.2:: pathogenicity:0.0 [./.]; 11:300228C>G NM_001025295.2:: pathogenicity:0.0 [1/1]; 11:300236C>A NM_001025295.2:: pathogenicity:0.0 [1/1]; 11:301039GTT>G NM_001025295.2:: pathogenicity:0.0 [1/1]; 11:307961A>C XM_005252750.1:: pathogenicity:0.0 [1/1]; 11:308015T>C XM_005252750.1:: pathogenicity:0.0 [0/1]; 11:308022C>T XM_005252750.1:: pathogenicity:0.0 [0/1]; 11:308025C>A XM_005252750.1:: pathogenicity:0.0 [0/1]; 11:308028C>T XM_005252750.1:: pathogenicity:0.0 [0/1]; 11:308065T>C XM_005252750.1:: pathogenicity:0.0 [1/1]
138
+ 129 Elliptocytosis-3 OMIM:617948 1/8371 0.00% -9.93 NCBIGene:6710 14:65213610GA>G XM_005267511.1:c.*3202del:p.(=) pathogenicity:0.0 [0/1]; 14:65213800G>A NM_001024858.2:c.*2224C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65215654CT>C NM_001024858.2:c.*369del:p.(=) pathogenicity:0.0 [0/1]; 14:65230569G>T NM_001024858.2:c.6345+2875C>A:p.(=) pathogenicity:0.0 [0/0]; 14:65230578G>T NM_001024858.2:c.6345+2866C>A:p.(=) pathogenicity:0.0 [0/0]; 14:65245863C>G NM_000347.5:c.4563+12G>C:p.(=) pathogenicity:0.0 [0/1]; 14:65245956C>T NM_000347.5:c.4482G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65245962A>G NM_000347.5:c.4476T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65246006G>A NM_000347.5:c.4474-42C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65246040G>A NM_000347.5:c.4474-76C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65246310A>G NM_000347.5:c.4473+133T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65246312G>C NM_000347.5:c.4473+131C>G:p.(=) pathogenicity:0.0 [0/1]; 14:65246350A>G NM_000347.5:c.4473+93T>C:p.(=) pathogenicity:0.0 [0/0]; 14:65246623T>C NM_000347.5:c.4293A>G:p.(=) pathogenicity:0.0 [0/1]; 14:65250939A>G NM_000347.5:c.4002+26T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65253232T>C NM_000347.5:c.3451A>G:p.(N1151D) pathogenicity:0.0 [0/1]; 14:65253749C>T NM_000347.5:c.2934G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65260227T>G NM_000347.5:c.2154A>C:p.(=) pathogenicity:0.0 [0/1]; 14:65262126C>T NM_000347.5:c.1573G>A:p.(E525K) pathogenicity:1.0 [0/1]; 14:65262425C>A NM_000347.5:c.1342-68G>T:p.(=) pathogenicity:0.0 [0/1]; 14:65263300C>T NM_000347.5:c.1316G>A:p.(S439N) pathogenicity:0.0 [0/1]; 14:65263347C>T NM_000347.5:c.1269G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65263590C>CT NM_000347.5:c.1183-158_1183-157insA:p.(=) pathogenicity:0.0 [0/1]; 14:65267469T>C NM_000347.5:c.876+5A>G:p.? pathogenicity:0.0 [0/1]; 14:65267901C>T NM_000347.5:c.763+102G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65268167C>T NM_000347.5:c.648-49G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65268324A>T NM_000347.5:c.647+148T>A:p.(=) pathogenicity:0.0 [0/1]; 14:65268451C>T NM_000347.5:c.647+21G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65269174G>A NM_000347.5:c.475-139C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65270214CT>C NM_000347.5:c.474+110del:p.(=) pathogenicity:0.0 [1/1]; 14:65270222A>G NM_000347.5:c.474+103T>C:p.(=) pathogenicity:0.0 [1/1]; 14:65270272C>A NM_000347.5:c.474+53G>T:p.(=) pathogenicity:0.0 [0/1]; 14:65271634G>A NM_000347.5:c.300+23C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65271650A>G NM_000347.5:c.300+7T>C:p.? pathogenicity:0.0 [0/1]; 14:65285357T>C NM_000347.5:c.148+4308A>G:p.(=) pathogenicity:0.0 [1/1]; 14:65288293TGAC>T NM_000347.5:c.148+1369_148+1371del:p.(=) pathogenicity:0.0 [./.]; 14:65289966A>G XM_005268022.1:c.-51-103T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65289978A>G XM_005268022.1:c.-51-115T>C:p.(=) pathogenicity:0.0 [1/1]; 14:65295646C>T XM_005268022.1:c.-51-5783G>A:p.(=) pathogenicity:0.0 [1/1]; 14:65301792T>C XM_005268022.1:c.-51-11929A>G:p.(=) pathogenicity:0.0 [1/1]; 14:65308970C>T XM_005268022.1:c.-51-19107G>A:p.(=) pathogenicity:0.0 [1/1]; 14:65329139G>C XM_005268022.1:c.-52+17371C>G:p.(=) pathogenicity:0.0 [1/1]; 14:65332294T>A XM_005268022.1:c.-52+14216A>T:p.(=) pathogenicity:0.0 [./.]; 14:65337684G>T XM_005268022.1:c.-52+8826C>A:p.(=) pathogenicity:0.0 [1/1]; 14:65342266G>A XM_005268022.1:c.-52+4244C>T:p.(=) pathogenicity:0.0 [1/1]; 14:65346094A>G XM_005268022.1:c.-52+416T>C:p.(=) pathogenicity:0.0 [1/1]; 14:65346160G>A XM_005268022.1:c.-52+350C>T:p.(=) pathogenicity:0.0 [1/1]; 14:65346950G>A XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65346957G>T XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65349516T>TGG XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65349970A>G XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65349971T>G XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65352796T>C XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65366416T>C XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65372348C>T XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65373489A>C XM_005268022.1:: pathogenicity:0.0 [1/1]
139
+ 130 Spherocytosis, type 2 OMIM:616649 1/8371 0.00% -9.93 NCBIGene:6710 14:65213610GA>G XM_005267511.1:c.*3202del:p.(=) pathogenicity:0.0 [0/1]; 14:65213800G>A NM_001024858.2:c.*2224C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65215654CT>C NM_001024858.2:c.*369del:p.(=) pathogenicity:0.0 [0/1]; 14:65230569G>T NM_001024858.2:c.6345+2875C>A:p.(=) pathogenicity:0.0 [0/0]; 14:65230578G>T NM_001024858.2:c.6345+2866C>A:p.(=) pathogenicity:0.0 [0/0]; 14:65245863C>G NM_000347.5:c.4563+12G>C:p.(=) pathogenicity:0.0 [0/1]; 14:65245956C>T NM_000347.5:c.4482G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65245962A>G NM_000347.5:c.4476T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65246006G>A NM_000347.5:c.4474-42C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65246040G>A NM_000347.5:c.4474-76C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65246310A>G NM_000347.5:c.4473+133T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65246312G>C NM_000347.5:c.4473+131C>G:p.(=) pathogenicity:0.0 [0/1]; 14:65246350A>G NM_000347.5:c.4473+93T>C:p.(=) pathogenicity:0.0 [0/0]; 14:65246623T>C NM_000347.5:c.4293A>G:p.(=) pathogenicity:0.0 [0/1]; 14:65250939A>G NM_000347.5:c.4002+26T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65253232T>C NM_000347.5:c.3451A>G:p.(N1151D) pathogenicity:0.0 [0/1]; 14:65253749C>T NM_000347.5:c.2934G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65260227T>G NM_000347.5:c.2154A>C:p.(=) pathogenicity:0.0 [0/1]; 14:65262126C>T NM_000347.5:c.1573G>A:p.(E525K) pathogenicity:1.0 [0/1]; 14:65262425C>A NM_000347.5:c.1342-68G>T:p.(=) pathogenicity:0.0 [0/1]; 14:65263300C>T NM_000347.5:c.1316G>A:p.(S439N) pathogenicity:0.0 [0/1]; 14:65263347C>T NM_000347.5:c.1269G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65263590C>CT NM_000347.5:c.1183-158_1183-157insA:p.(=) pathogenicity:0.0 [0/1]; 14:65267469T>C NM_000347.5:c.876+5A>G:p.? pathogenicity:0.0 [0/1]; 14:65267901C>T NM_000347.5:c.763+102G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65268167C>T NM_000347.5:c.648-49G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65268324A>T NM_000347.5:c.647+148T>A:p.(=) pathogenicity:0.0 [0/1]; 14:65268451C>T NM_000347.5:c.647+21G>A:p.(=) pathogenicity:0.0 [0/1]; 14:65269174G>A NM_000347.5:c.475-139C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65270214CT>C NM_000347.5:c.474+110del:p.(=) pathogenicity:0.0 [1/1]; 14:65270222A>G NM_000347.5:c.474+103T>C:p.(=) pathogenicity:0.0 [1/1]; 14:65270272C>A NM_000347.5:c.474+53G>T:p.(=) pathogenicity:0.0 [0/1]; 14:65271634G>A NM_000347.5:c.300+23C>T:p.(=) pathogenicity:0.0 [0/1]; 14:65271650A>G NM_000347.5:c.300+7T>C:p.? pathogenicity:0.0 [0/1]; 14:65285357T>C NM_000347.5:c.148+4308A>G:p.(=) pathogenicity:0.0 [1/1]; 14:65288293TGAC>T NM_000347.5:c.148+1369_148+1371del:p.(=) pathogenicity:0.0 [./.]; 14:65289966A>G XM_005268022.1:c.-51-103T>C:p.(=) pathogenicity:0.0 [0/1]; 14:65289978A>G XM_005268022.1:c.-51-115T>C:p.(=) pathogenicity:0.0 [1/1]; 14:65295646C>T XM_005268022.1:c.-51-5783G>A:p.(=) pathogenicity:0.0 [1/1]; 14:65301792T>C XM_005268022.1:c.-51-11929A>G:p.(=) pathogenicity:0.0 [1/1]; 14:65308970C>T XM_005268022.1:c.-51-19107G>A:p.(=) pathogenicity:0.0 [1/1]; 14:65329139G>C XM_005268022.1:c.-52+17371C>G:p.(=) pathogenicity:0.0 [1/1]; 14:65332294T>A XM_005268022.1:c.-52+14216A>T:p.(=) pathogenicity:0.0 [./.]; 14:65337684G>T XM_005268022.1:c.-52+8826C>A:p.(=) pathogenicity:0.0 [1/1]; 14:65342266G>A XM_005268022.1:c.-52+4244C>T:p.(=) pathogenicity:0.0 [1/1]; 14:65346094A>G XM_005268022.1:c.-52+416T>C:p.(=) pathogenicity:0.0 [1/1]; 14:65346160G>A XM_005268022.1:c.-52+350C>T:p.(=) pathogenicity:0.0 [1/1]; 14:65346950G>A XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65346957G>T XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65349516T>TGG XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65349970A>G XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65349971T>G XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65352796T>C XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65366416T>C XM_005268022.1:: pathogenicity:0.0 [1/1]; 14:65372348C>T XM_005268022.1:: pathogenicity:0.0 [./.]; 14:65373489A>C XM_005268022.1:: pathogenicity:0.0 [1/1]
140
+ 131 Abdominal obesity-metabolic syndrome 1 OMIM:605552 1/8371 0.00% -9.932 NCBIGene:4547 4:100485244G>C NM_000253.2:c.-252G>C:p.(=) pathogenicity:0.0 [0/1]; 4:100485255G>A XM_005263025.1:c.3G>A:p.0? pathogenicity:0.0 [0/1]; 4:100485577T>A XM_005263025.1:c.142+183T>A:p.(=) pathogenicity:0.0 [1/1]; 4:100486558CTAT>C XM_005263025.1:c.142+1165_142+1167del:p.(=) pathogenicity:0.0 [./.]; 4:100488580G>C XM_005263025.1:c.142+3186G>C:p.(=) pathogenicity:0.0 [1/1]; 4:100495817T>C XM_005263025.1:c.143-7245T>C:p.(=) pathogenicity:0.0 [./.]; 4:100503159C>A NM_000253.2:c.159C>A:p.(D53E) pathogenicity:0.8 [0/1]; 4:100504664T>C NM_000253.2:c.383T>C:p.(I128T) pathogenicity:0.0 [0/1]; 4:100512350C>T NM_000253.2:c.502-42C>T:p.(=) pathogenicity:0.0 [0/1]; 4:100534041G>A NM_000253.2:c.1990-29G>A:p.(=) pathogenicity:0.0 [0/1]; 4:100544440GA>G NM_000253.2:c.*454del:p.(=) pathogenicity:0.0 [0/1]; 4:100545051C>G NM_000253.2:c.*1046C>G:p.(=) pathogenicity:0.0 [0/1]
141
+ 132 Polycystic liver disease 2 OMIM:617004 1/8371 0.00% -9.997 NCBIGene:11231 6:108151529G>A NM_007214.4:: pathogenicity:0.0 [1/1]; 6:108167698C>G NM_007214.4:: pathogenicity:0.0 [1/1]; 6:108188413CTT>C NM_007214.4:: pathogenicity:0.0 [1/1]; 6:108189328C>T NM_007214.4:c.*3580G>A:p.(=) pathogenicity:0.0 [1/1]; 6:108189333T>TGTC NM_007214.4:c.*3574_*3575insGAC:p.(=) pathogenicity:0.0 [1/1]; 6:108189411T>C NM_007214.4:c.*3497A>G:p.(=) pathogenicity:0.0 [1/1]; 6:108189427TA>T NM_007214.4:c.*3480del:p.(=) pathogenicity:0.0 [1/1]; 6:108189477T>G NM_007214.4:c.*3431A>C:p.(=) pathogenicity:0.0 [1/1]; 6:108189515G>A NM_007214.4:c.*3393C>T:p.(=) pathogenicity:0.0 [1/1]; 6:108189876TA>T NM_007214.4:c.*3031del:p.(=) pathogenicity:0.0 [0/1]; 6:108190246C>T NM_007214.4:c.*2662G>A:p.(=) pathogenicity:0.0 [1/1]; 6:108190976GTTTTTT>G NM_007214.4:c.*1926_*1931del:p.(=) pathogenicity:0.0 [1/1]; 6:108191007T>C NM_007214.4:c.*1901A>G:p.(=) pathogenicity:0.0 [1/1]; 6:108191114AAAAC>A NM_007214.4:c.*1790_*1793del:p.(=) pathogenicity:0.0 [0/1]; 6:108191203C>T NM_007214.4:c.*1705G>A:p.(=) pathogenicity:0.0 [1/1]; 6:108191382A>G NM_007214.4:c.*1526T>C:p.(=) pathogenicity:0.0 [1/1]; 6:108191510T>G NM_007214.4:c.*1398A>C:p.(=) pathogenicity:0.0 [1/1]; 6:108192785A>T NM_007214.4:c.*123T>A:p.(=) pathogenicity:0.0 [1/1]; 6:108193148C>T NM_007214.4:c.2140-97G>A:p.(=) pathogenicity:0.0 [./.]; 6:108193725T>C NM_007214.4:c.2139+287A>G:p.(=) pathogenicity:0.0 [1/1]; 6:108197874C>CAAA NM_007214.4:c.1936-9_1936-8insTTT:p.? pathogenicity:0.8 [0/1]; 6:108197998A>G NM_007214.4:c.1936-132T>C:p.(=) pathogenicity:0.0 [1/1]; 6:108203940C>A NM_007214.4:c.1833+252G>T:p.(=) pathogenicity:0.0 [./.]; 6:108214694C>T NM_007214.4:c.1666G>A:p.(V556I) pathogenicity:0.0 [0/1]; 6:108217167G>A NM_007214.4:c.1440+1686C>T:p.(=) pathogenicity:0.0 [0/1]; 6:108224422A>C NM_007214.4:c.1055-220T>G:p.(=) pathogenicity:0.0 [1/1]; 6:108230346A>T NM_007214.4:c.625-107T>A:p.(=) pathogenicity:0.0 [1/1]; 6:108233929G>A NM_007214.4:c.564C>T:p.(=) pathogenicity:0.0 [1/1]; 6:108238917A>G NM_007214.4:c.452+4084T>C:p.(=) pathogenicity:0.0 [./.]; 6:108243115T>TGGG NM_007214.4:c.340-3_340-2insCCC:p.? pathogenicity:0.0 [0/1]; 6:108243119GAAAAAC>G NM_007214.4:c.340-12_340-7del:p.? pathogenicity:0.0 [0/1]; 6:108243120AAAAAC>A NM_007214.4:c.340-12_340-8del:p.? pathogenicity:0.0 [0/1]; 6:108243125C>CGGG NM_007214.4:c.340-13_340-12insCCC:p.(=) pathogenicity:0.0 [0/1]; 6:108243286A>ATT NM_007214.4:c.340-174_340-173insAA:p.(=) pathogenicity:0.0 [1/1]; 6:108245870TATA>T NM_007214.4:c.339+149_339+151del:p.(=) pathogenicity:0.0 [1/1]; 6:108248620G>A NM_007214.4:c.224+1999C>T:p.(=) pathogenicity:0.0 [0/1]; 6:108279290G>A NM_007214.4:c.-77C>T:p.(=) pathogenicity:0.0 [1/1]; 6:108279546T>G NM_007214.4:: pathogenicity:0.0 [1/1]; 6:108295444A>G NM_007214.4:: pathogenicity:0.0 [./.]; 6:108308659T>G NM_007214.4:: pathogenicity:0.0 [./.]; 6:108309303C>T NM_007214.4:: pathogenicity:0.0 [./.]; 6:108316461G>GTA NM_007214.4:: pathogenicity:0.0 [./.]; 6:108325624C>T NM_007214.4:: pathogenicity:0.0 [1/1]; 6:108326049A>G NM_007214.4:: pathogenicity:0.0 [1/1]; 6:108327046T>C NM_007214.4:: pathogenicity:0.0 [./.]; 6:108327052C>T NM_007214.4:: pathogenicity:0.0 [./.]; 6:108327531CTTTT>C NM_007214.4:: pathogenicity:0.0 [0/0]; 6:108327552G>A NM_007214.4:: pathogenicity:0.0 [0/0]; 6:108327950TTGG>T NM_007214.4:: pathogenicity:0.0 [1/1]
142
+ 133 Retinitis pigmentosa 88 OMIM:618826 1/8371 0.00% -10 NCBIGene:94137 8:10417352A>C NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10418221C>G NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10419303G>A NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10424629A>G NM_001197020.1:: pathogenicity:0.0 [./.]; 8:10445591T>A NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10448714TGGG>T NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10460631T>G NM_178857.5:: pathogenicity:0.0 [1/1]; 8:10460874T>C NM_178857.5:: pathogenicity:0.0 [1/1]; 8:10460875C>G NM_178857.5:: pathogenicity:0.0 [1/1]; 8:10463944A>C NM_178857.5:c.*461T>G:p.(=) pathogenicity:0.0 [1/1]; 8:10465097C>T NM_178857.5:c.6511G>A:p.(E2171K) pathogenicity:0.0 [1/1]; 8:10465771G>T NM_178857.5:c.5837C>A:p.(A1946E) pathogenicity:0.0 [1/1]; 8:10466482G>A NM_178857.5:c.5126C>T:p.(A1709V) pathogenicity:0.0 [1/1]; 8:10467207C>A NM_178857.5:c.4401G>T:p.(R1467S) pathogenicity:0.0 [1/1]; 8:10467637T>TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC NM_178857.5:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.(E1323_E1324insGTKVIEGLQEERVQLE) pathogenicity:0.9 [1/1]; 8:10468172G>A NM_178857.5:c.3436C>T:p.(R1146W) pathogenicity:0.0 [1/1]; 8:10469233A>G NM_178857.5:c.2375T>C:p.(L792P) pathogenicity:0.0 [1/1]; 8:10469817G>A NM_178857.5:c.1791C>T:p.(=) pathogenicity:0.0 [1/1]; 8:10470068C>T NM_178857.5:c.1540G>A:p.(G514S) pathogenicity:0.0 [1/1]; 8:10470573C>T NM_178857.5:c.1035G>A:p.(=) pathogenicity:0.1 [0/0]; 8:10470915A>G NM_178857.5:c.752-59T>C:p.(=) pathogenicity:0.0 [./.]; 8:10470941C>T NM_178857.5:c.752-85G>A:p.(=) pathogenicity:0.0 [./.]; 8:10472695C>A NM_178857.5:c.751+1261G>T:p.(=) pathogenicity:0.0 [./.]; 8:10472716T>C NM_178857.5:c.751+1240A>G:p.(=) pathogenicity:0.0 [./.]; 8:10479824C>G NM_178857.5:c.609+279G>C:p.(=) pathogenicity:0.0 [1/1]; 8:10483755T>TG NM_178857.5:c.-19-3026_-19-3025insC:p.(=) pathogenicity:0.0 [1/1]; 8:10491456T>C NM_178857.5:c.-19-10726A>G:p.(=) pathogenicity:0.0 [1/1]; 8:10492611G>C NM_178857.5:c.-19-11881C>G:p.(=) pathogenicity:0.0 [1/1]; 8:10509966G>A NM_178857.5:c.-20+2442C>T:p.(=) pathogenicity:0.0 [1/1]; 8:10509972G>A NM_178857.5:c.-20+2436C>T:p.(=) pathogenicity:0.0 [1/1]; 8:10512511G>C NM_178857.5:c.-123C>G:p.(=) pathogenicity:0.0 [0/1]; 8:10516135C>T NM_178857.5:: pathogenicity:0.0 [./.]; 8:10516185G>A NM_178857.5:: pathogenicity:0.0 [./.]; 8:10519149G>A NR_036248.1:: pathogenicity:0.0 [1/1]
143
+ 134 Deafness, autosomal recessive 79 OMIM:613307 1/8371 0.00% -10.055 NCBIGene:286262 9:140085210G>C NM_001128228.2:: pathogenicity:0.0 [1/1]; 9:140093288G>A NM_001128228.2:c.1725+151C>T:p.(=) pathogenicity:0.0 [0/0]; 9:140093903G>A NM_001128228.2:c.1261C>T:p.(P421S) pathogenicity:0.9 [0/1]; 9:140094605C>A NM_001128228.2:c.559G>T:p.(A187S) pathogenicity:0.0 [0/1]
144
+ 135 Deafness, autosomal recessive 49 OMIM:610153 1/8371 0.00% -10.058 NCBIGene:153562 5:68710670G>T NM_001244734.1:: pathogenicity:0.0 [1/1]; 5:68715310C>T NM_001038603.2:c.98C>T:p.(T33I) pathogenicity:0.0 [1/1]; 5:68716110T>A NM_001038603.2:c.898T>A:p.(L300M) pathogenicity:0.9 [0/1]; 5:68716463G>A NM_001038603.2:c.1146+105G>A:p.(=) pathogenicity:0.0 [1/1]; 5:68749093T>TAAA XM_005248447.1:: pathogenicity:0.0 [1/1]; 5:68749268CAA>C XM_005248447.1:: pathogenicity:0.0 [0/0]; 5:68770812CA>C XM_005248447.1:: pathogenicity:0.0 [1/1]
145
+ 136 Occult macular dystrophy OMIM:613587 1/8371 0.00% -10.077 NCBIGene:94137 8:10417352A>C NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10418221C>G NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10419303G>A NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10424629A>G NM_001197020.1:: pathogenicity:0.0 [./.]; 8:10445591T>A NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10448714TGGG>T NM_001197020.1:: pathogenicity:0.0 [1/1]; 8:10460631T>G NM_178857.5:: pathogenicity:0.0 [1/1]; 8:10460874T>C NM_178857.5:: pathogenicity:0.0 [1/1]; 8:10460875C>G NM_178857.5:: pathogenicity:0.0 [1/1]; 8:10463944A>C NM_178857.5:c.*461T>G:p.(=) pathogenicity:0.0 [1/1]; 8:10465097C>T NM_178857.5:c.6511G>A:p.(E2171K) pathogenicity:0.0 [1/1]; 8:10465771G>T NM_178857.5:c.5837C>A:p.(A1946E) pathogenicity:0.0 [1/1]; 8:10466482G>A NM_178857.5:c.5126C>T:p.(A1709V) pathogenicity:0.0 [1/1]; 8:10467207C>A NM_178857.5:c.4401G>T:p.(R1467S) pathogenicity:0.0 [1/1]; 8:10467637T>TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC NM_178857.5:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.(E1323_E1324insGTKVIEGLQEERVQLE) pathogenicity:0.9 [1/1]; 8:10468172G>A NM_178857.5:c.3436C>T:p.(R1146W) pathogenicity:0.0 [1/1]; 8:10469233A>G NM_178857.5:c.2375T>C:p.(L792P) pathogenicity:0.0 [1/1]; 8:10469817G>A NM_178857.5:c.1791C>T:p.(=) pathogenicity:0.0 [1/1]; 8:10470068C>T NM_178857.5:c.1540G>A:p.(G514S) pathogenicity:0.0 [1/1]; 8:10470573C>T NM_178857.5:c.1035G>A:p.(=) pathogenicity:0.1 [0/0]; 8:10470915A>G NM_178857.5:c.752-59T>C:p.(=) pathogenicity:0.0 [./.]; 8:10470941C>T NM_178857.5:c.752-85G>A:p.(=) pathogenicity:0.0 [./.]; 8:10472695C>A NM_178857.5:c.751+1261G>T:p.(=) pathogenicity:0.0 [./.]; 8:10472716T>C NM_178857.5:c.751+1240A>G:p.(=) pathogenicity:0.0 [./.]; 8:10479824C>G NM_178857.5:c.609+279G>C:p.(=) pathogenicity:0.0 [1/1]; 8:10483755T>TG NM_178857.5:c.-19-3026_-19-3025insC:p.(=) pathogenicity:0.0 [1/1]; 8:10491456T>C NM_178857.5:c.-19-10726A>G:p.(=) pathogenicity:0.0 [1/1]; 8:10492611G>C NM_178857.5:c.-19-11881C>G:p.(=) pathogenicity:0.0 [1/1]; 8:10509966G>A NM_178857.5:c.-20+2442C>T:p.(=) pathogenicity:0.0 [1/1]; 8:10509972G>A NM_178857.5:c.-20+2436C>T:p.(=) pathogenicity:0.0 [1/1]; 8:10512511G>C NM_178857.5:c.-123C>G:p.(=) pathogenicity:0.0 [0/1]; 8:10516135C>T NM_178857.5:: pathogenicity:0.0 [./.]; 8:10516185G>A NM_178857.5:: pathogenicity:0.0 [./.]; 8:10519149G>A NR_036248.1:: pathogenicity:0.0 [1/1]
146
+ 137 Spermatogenic failure 55 OMIM:619380 1/8371 0.00% -10.107 NCBIGene:200162 1:118520042C>T NM_206996.2:c.6004+3851G>A:p.(=) pathogenicity:0.0 [./.]; 1:118526592G>A NM_206996.2:c.5770-56C>T:p.(=) pathogenicity:0.0 [1/1]; 1:118537142T>C NM_206996.2:c.5065A>G:p.(I1689V) pathogenicity:1.0 [0/1]; 1:118537240C>G NM_206996.2:c.5054-87G>C:p.(=) pathogenicity:0.0 [0/1]; 1:118550444C>T NM_206996.2:c.4587+223G>A:p.(=) pathogenicity:0.0 [1/1]; 1:118554711G>T NM_206996.2:c.4432+140C>A:p.(=) pathogenicity:0.0 [1/1]; 1:118565953G>A NM_206996.2:c.4043C>T:p.(P1348L) pathogenicity:0.0 [1/1]; 1:118583408G>A NM_206996.2:c.3111C>T:p.(=) pathogenicity:0.0 [1/1]; 1:118592465T>C NM_206996.2:c.2814+4160A>G:p.(=) pathogenicity:0.0 [1/1]; 1:118617274C>T NM_206996.2:c.2210-51G>A:p.(=) pathogenicity:0.0 [1/1]; 1:118617402C>A NM_206996.2:c.2210-179G>T:p.(=) pathogenicity:0.0 [0/1]; 1:118623681TACACAC>T NM_206996.2:c.2209+37_2209+42del:p.(=) pathogenicity:0.0 [1/1]; 1:118626173A>G NM_206996.2:c.1763-1908T>C:p.(=) pathogenicity:0.0 [1/1]; 1:118629125T>C NM_206996.2:c.1611+169A>G:p.(=) pathogenicity:0.0 [1/1]; 1:118632477T>C NM_206996.2:c.1359+1752A>G:p.(=) pathogenicity:0.0 [./.]; 1:118635715A>T NM_206996.2:c.1173+64T>A:p.(=) pathogenicity:0.0 [0/1]; 1:118637208C>A NM_206996.2:c.1012-1268G>T:p.(=) pathogenicity:0.0 [1/1]; 1:118644430A>G NM_206996.2:c.567T>C:p.(=) pathogenicity:0.0 [1/1]; 1:118678953C>T NM_206996.2:c.315+14213G>A:p.(=) pathogenicity:0.0 [1/1]; 1:118702036T>C NM_206996.2:c.88-8044A>G:p.(=) pathogenicity:0.0 [1/1]; 1:118731998T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118739602TAC>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118742855T>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118751347C>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118763063T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118773114G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118778410T>TCAA NM_206996.2:: pathogenicity:0.0 [./.]; 1:118785327G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118798414A>G NM_206996.2:: pathogenicity:0.0 [./.]; 1:118803142G>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118832069TA>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118862152TAA>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118873346G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118880827C>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118881689A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118925443T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118925454A>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:118931265A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119008673C>CA NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119015988T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119022549A>T NM_206996.2:: pathogenicity:0.0 [./.]; 1:119042609A>G NM_206996.2:: pathogenicity:0.0 [./.]; 1:119059625G>GT NM_206996.2:: pathogenicity:0.0 [./.]; 1:119065582C>G NM_206996.2:: pathogenicity:0.0 [./.]; 1:119066077T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119070750G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119078063T>C NM_206996.2:: pathogenicity:0.0 [./.]; 1:119081715G>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119083802G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119083812G>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119083813A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119083870T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119083876A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119083886G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119087474G>A NM_206996.2:: pathogenicity:0.0 [./.]; 1:119087481A>G NM_206996.2:: pathogenicity:0.0 [./.]; 1:119091700C>T NM_206996.2:: pathogenicity:0.0 [./.]; 1:119091733C>G NM_206996.2:: pathogenicity:0.0 [./.]; 1:119100982TGAGA>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119105960G>A NM_206996.2:: pathogenicity:0.0 [./.]; 1:119111270C>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119111271A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119112132T>C NM_206996.2:: pathogenicity:0.0 [./.]; 1:119112263T>A NM_206996.2:: pathogenicity:0.0 [./.]; 1:119112289G>A NM_206996.2:: pathogenicity:0.0 [./.]; 1:119112290C>A NM_206996.2:: pathogenicity:0.0 [./.]; 1:119112382T>C NM_206996.2:: pathogenicity:0.0 [./.]; 1:119122583T>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119126467A>C NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119135189A>C NM_206996.2:: pathogenicity:0.0 [./.]; 1:119141335A>C NM_206996.2:: pathogenicity:0.0 [./.]; 1:119149230T>C NM_206996.2:: pathogenicity:0.0 [./.]; 1:119153559C>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119153561T>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119157211G>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119157490A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119157909C>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119158186C>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119180803A>G NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119208900C>T NM_206996.2:: pathogenicity:0.0 [./.]; 1:119208957C>T NM_206996.2:: pathogenicity:0.0 [./.]; 1:119214950TAAGAA>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119216519TGG>T NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119237523A>G NM_206996.2:: pathogenicity:0.0 [./.]; 1:119327649G>A NM_206996.2:: pathogenicity:0.0 [1/1]; 1:119410417G>T NM_206996.2:: pathogenicity:0.0 [./.]
147
+ 138 Intellectual developmental disorder, autosomal recessive 1 OMIM:249500 1/8371 0.00% -10.108 NCBIGene:8492 4:119210133G>A NM_003619.3:c.2040-5867C>T:p.(=) pathogenicity:0.0 [1/1]; 4:119211978T>C NM_003619.3:c.2039+4116A>G:p.(=) pathogenicity:0.0 [1/1]; 4:119217114C>G NM_003619.3:c.1838-103G>C:p.(=) pathogenicity:0.0 [1/1]; 4:119239900C>A NM_003619.3:c.972-189G>T:p.(=) pathogenicity:0.0 [1/1]; 4:119250258A>T NM_003619.3:c.971+2613T>A:p.(=) pathogenicity:0.0 [1/1]; 4:119256296T>G NM_003619.3:c.820+332A>C:p.(=) pathogenicity:0.0 [./.]; 4:119259199C>G NM_003619.3:c.641+132G>C:p.(=) pathogenicity:0.0 [0/1]; 4:119259448C>T NM_003619.3:c.524G>A:p.(G175D) pathogenicity:1.0 [0/1]; 4:119273712C>G NM_003619.3:c.164G>C:p.(R55T) pathogenicity:0.0 [0/1]; 4:119273948G>C XM_005263318.1:c.-73C>G:p.(=) pathogenicity:0.0 [0/1]; 4:119294505T>C NR_003135.2:: pathogenicity:0.0 [./.]; 4:119336720C>T NR_003135.2:: pathogenicity:0.0 [./.]; 4:119337001T>TG NR_003135.2:: pathogenicity:0.0 [1/1]; 4:119386721G>T NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119389271A>G NR_003135.2:: pathogenicity:0.0 [./.]; 4:119391007A>AC NR_003135.2:: pathogenicity:0.0 [./.]; 4:119391043G>A NR_003135.2:: pathogenicity:0.0 [./.]; 4:119401424T>A NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119414828G>A NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119424307T>C NR_003135.2:: pathogenicity:0.0 [1/1]; 4:119427957C>G NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119428006A>G NR_003135.2:: pathogenicity:0.0 [0/0]; 4:119430705G>A NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119430861GT>G NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119430906A>T NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119434892G>A NR_003135.2:: pathogenicity:0.0 [0/0]; 4:119435061C>T NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119435862A>G NR_003135.2:: pathogenicity:0.0 [1/1]; 4:119435997C>T NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436130G>A NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436487T>C NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436588TGA>T NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436589G>T NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436590A>ATTT NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436653T>C NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436654G>A NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119436664C>G NR_003135.2:: pathogenicity:0.0 [0/1]; 4:119437457C>T NR_003135.2:: pathogenicity:0.0 [0/1]
148
+ 139 Deafness, autosomal recessive 30 OMIM:607101 1/8371 0.00% -10.123 NCBIGene:53904 10:26223147A>G NM_017433.4:c.-215A>G:p.(=) pathogenicity:0.0 [0/1]; 10:26223230A>G NM_017433.4:c.-132A>G:p.(=) pathogenicity:0.0 [0/1]; 10:26224759G>A NM_017433.4:c.-18G>A:p.(=) pathogenicity:0.0 [0/1]; 10:26224923G>T NM_017433.4:c.-18+164G>T:p.(=) pathogenicity:0.0 [0/1]; 10:26227763T>G NM_017433.4:c.-18+3004T>G:p.(=) pathogenicity:0.0 [./.]; 10:26236318CT>C NM_017433.4:c.-17-4704del:p.(=) pathogenicity:0.0 [1/1]; 10:26236329T>C NM_017433.4:c.-17-4694T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26241456G>A NM_017433.4:c.168+249G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26243710A>C NM_017433.4:c.169-93A>C:p.(=) pathogenicity:0.0 [0/1]; 10:26286367G>A NM_017433.4:c.508+180G>A:p.(=) pathogenicity:0.0 [0/1]; 10:26310410T>C NM_017433.4:c.586-22T>C:p.(=) pathogenicity:0.0 [0/1]; 10:26310679A>C NM_017433.4:c.731+102A>C:p.(=) pathogenicity:0.0 [0/0]; 10:26312824G>A NM_017433.4:c.732-127G>A:p.(=) pathogenicity:0.0 [0/1]; 10:26318915C>T NM_017433.4:c.953+3454C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26329362G>A NM_017433.4:c.953+13901G>A:p.(=) pathogenicity:0.0 [./.]; 10:26332745G>A NM_017433.4:c.953+17284G>A:p.(=) pathogenicity:0.0 [./.]; 10:26332750G>A NM_017433.4:c.953+17289G>A:p.(=) pathogenicity:0.0 [./.]; 10:26333063A>G NM_017433.4:c.953+17602A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26333728A>AAG NM_017433.4:c.953+18267_953+18268insAG:p.(=) pathogenicity:0.0 [1/1]; 10:26338254G>A NM_017433.4:c.954-17650G>A:p.(=) pathogenicity:0.0 [0/1]; 10:26344926G>T NM_017433.4:c.954-10978G>T:p.(=) pathogenicity:0.0 [1/1]; 10:26344939A>G NM_017433.4:c.954-10965A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26346948A>G NM_017433.4:c.954-8956A>G:p.(=) pathogenicity:0.0 [./.]; 10:26347465A>G NM_017433.4:c.954-8439A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26349003G>A NM_017433.4:c.954-6901G>A:p.(=) pathogenicity:0.0 [./.]; 10:26349013T>C NM_017433.4:c.954-6891T>C:p.(=) pathogenicity:0.0 [./.]; 10:26349490T>TGTTATTTTAA NM_017433.4:c.954-6414_954-6413insGTTATTTTAA:p.(=) pathogenicity:0.0 [1/1]; 10:26349491CCA>C NM_017433.4:c.954-6412_954-6411del:p.(=) pathogenicity:0.0 [1/1]; 10:26349663G>T NM_017433.4:c.954-6241G>T:p.(=) pathogenicity:0.0 [./.]; 10:26349687C>T NM_017433.4:c.954-6217C>T:p.(=) pathogenicity:0.0 [./.]; 10:26350521G>A NM_017433.4:c.954-5383G>A:p.(=) pathogenicity:0.0 [./.]; 10:26350528C>T NM_017433.4:c.954-5376C>T:p.(=) pathogenicity:0.0 [./.]; 10:26354101G>T NM_017433.4:c.954-1803G>T:p.(=) pathogenicity:0.0 [./.]; 10:26355576A>G NM_017433.4:c.954-328A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26355721T>C NM_017433.4:c.954-183T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26355734A>G NM_017433.4:c.954-170A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26355771C>A NM_017433.4:c.954-133C>A:p.(=) pathogenicity:0.0 [1/1]; 10:26355862G>T NM_017433.4:c.954-42G>T:p.(=) pathogenicity:0.0 [1/1]; 10:26355872A>G NM_017433.4:c.954-32A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26355906G>A NM_017433.4:c.956G>A:p.(R319H) pathogenicity:0.0 [1/1]; 10:26355992A>G NM_017433.4:c.1042A>G:p.(I348V) pathogenicity:0.0 [1/1]; 10:26356014C>T NM_017433.4:c.1053+11C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26356015A>G NM_017433.4:c.1053+12A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26356037C>T NM_017433.4:c.1053+34C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26356066C>T NM_017433.4:c.1053+63C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26356194A>T NM_017433.4:c.1053+191A>T:p.(=) pathogenicity:0.0 [1/1]; 10:26356277T>C NM_017433.4:c.1053+274T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26356442T>C NM_017433.4:c.1053+439T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26357559G>A NM_017433.4:c.1054-138G>A:p.(=) pathogenicity:0.0 [./.]; 10:26357573G>A NM_017433.4:c.1054-124G>A:p.(=) pathogenicity:0.0 [./.]; 10:26357625T>C NM_017433.4:c.1054-72T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26357747C>T NM_017433.4:c.1104C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26357748G>A NM_017433.4:c.1105G>A:p.(V369I) pathogenicity:0.0 [1/1]; 10:26357820C>T NM_017433.4:c.1170+7C>T:p.? pathogenicity:0.0 [1/1]; 10:26358872T>C NM_017433.4:c.1171-168T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26358913G>A NM_017433.4:c.1171-127G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26359180T>G NM_017433.4:c.1275+36T>G:p.(=) pathogenicity:0.0 [1/1]; 10:26359200T>TA NM_017433.4:c.1276-47_1276-46insA:p.(=) pathogenicity:0.0 [1/1]; 10:26359643A>G NM_017433.4:c.1359+313A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26359655A>T NM_017433.4:c.1359+325A>T:p.(=) pathogenicity:0.0 [1/1]; 10:26360661G>T NM_017433.4:c.1359+1331G>T:p.(=) pathogenicity:0.0 [./.]; 10:26360831C>G NM_017433.4:c.1359+1501C>G:p.(=) pathogenicity:0.0 [./.]; 10:26360835C>T NM_017433.4:c.1359+1505C>T:p.(=) pathogenicity:0.0 [./.]; 10:26360968GACCCTCTTC>G NM_017433.4:c.1359+1639_1359+1647del:p.(=) pathogenicity:0.0 [1/1]; 10:26360999C>G NM_017433.4:c.1359+1669C>G:p.(=) pathogenicity:0.0 [1/1]; 10:26370371T>C NM_017433.4:c.1360-6761T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26377331C>T NM_017433.4:c.1559C>T:p.(A520V) pathogenicity:0.9 [0/1]; 10:26381394C>CAAA NM_017433.4:c.1563-3916_1563-3915insAAA:p.(=) pathogenicity:0.0 [./.]; 10:26381405G>A NM_017433.4:c.1563-3905G>A:p.(=) pathogenicity:0.0 [./.]; 10:26381626C>A NM_017433.4:c.1563-3684C>A:p.(=) pathogenicity:0.0 [./.]; 10:26381632C>A NM_017433.4:c.1563-3678C>A:p.(=) pathogenicity:0.0 [./.]; 10:26388734C>T NM_017433.4:c.1776+3123C>T:p.(=) pathogenicity:0.0 [./.]; 10:26398386T>A NM_017433.4:c.1777-11219T>A:p.(=) pathogenicity:0.0 [1/1]; 10:26399648G>C NM_017433.4:c.1777-9957G>C:p.(=) pathogenicity:0.0 [./.]; 10:26402831T>C NM_017433.4:c.1777-6774T>C:p.(=) pathogenicity:0.0 [./.]; 10:26405095G>A NM_017433.4:c.1777-4510G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26406216C>T NM_017433.4:c.1777-3389C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26410442G>C NM_017433.4:c.1903+711G>C:p.(=) pathogenicity:0.0 [1/1]; 10:26412190G>A NM_017433.4:c.1904-2137G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26417531T>G NM_017433.4:c.2262+64T>G:p.(=) pathogenicity:0.0 [1/1]; 10:26421596G>GTT NM_017433.4:c.2262+4129_2262+4130insTT:p.(=) pathogenicity:0.0 [./.]; 10:26436287G>T NM_017433.4:c.2506-72G>T:p.(=) pathogenicity:0.0 [1/1]; 10:26443646G>A NM_017433.4:c.2716-29G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26446312G>A NM_017433.4:c.2867G>A:p.(S956N) pathogenicity:0.0 [1/1]; 10:26447188T>A NM_017433.4:c.2999+744T>A:p.(=) pathogenicity:0.0 [1/1]; 10:26449358T>G NM_017433.4:c.2999+2914T>G:p.(=) pathogenicity:0.0 [1/1]; 10:26453799A>G NM_017433.4:c.3000-1197A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26457536C>T NM_017433.4:c.3112-105C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26459698T>C NM_017433.4:c.3398+230T>C:p.(=) pathogenicity:0.0 [1/1]; 10:26462463T>A NM_017433.4:c.3399-129T>A:p.(=) pathogenicity:0.0 [1/1]; 10:26462790G>A NM_017433.4:c.3597G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26463043A>T NM_017433.4:c.3850A>T:p.(T1284S) pathogenicity:0.0 [1/1]; 10:26463130C>A NM_017433.4:c.3937C>A:p.(R1313S) pathogenicity:0.0 [1/1]; 10:26463569G>A NM_017433.4:c.4293+83G>A:p.(=) pathogenicity:0.0 [1/1]; 10:26463587C>G NM_017433.4:c.4293+101C>G:p.(=) pathogenicity:0.0 [1/1]; 10:26468248C>T NM_017433.4:c.4438+2474C>T:p.(=) pathogenicity:0.0 [1/1]; 10:26479126C>A NM_017433.4:c.4439-3008C>A:p.(=) pathogenicity:0.0 [./.]; 10:26490556C>A NM_017433.4:c.4586+322C>A:p.(=) pathogenicity:0.0 [1/1]; 10:26500658A>G NM_017433.4:c.4731-114A>G:p.(=) pathogenicity:0.0 [1/1]; 10:26501280AT>A NM_017433.4:c.*399del:p.(=) pathogenicity:0.0 [1/1]; 10:26503735A>T NM_001134366.1:: pathogenicity:0.0 [1/1]; 10:26503802C>T NM_001134366.1:: pathogenicity:0.0 [1/1]; 10:26505214G>C NM_001134366.1:: pathogenicity:0.0 [1/1]
149
+ 140 Spermatogenic failure 39 OMIM:618643 1/8371 0.00% -10.133 NCBIGene:8632 17:76419882G>A NM_173628.3:c.*105C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76419984G>A NM_173628.3:c.*3C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76420373G>A NM_173628.3:c.13142-139C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76420393G>A NM_173628.3:c.13142-159C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76420437T>A NM_173628.3:c.13142-203A>T:p.(=) pathogenicity:0.0 [0/1]; 17:76420642A>ATTAT NM_173628.3:c.13142-409_13142-408insATAA:p.(=) pathogenicity:0.0 [0/1]; 17:76421360TTTATC>T NM_173628.3:c.13141+62_13141+66del:p.(=) pathogenicity:0.0 [0/1]; 17:76421464C>T NM_173628.3:c.13104G>A:p.(=) pathogenicity:0.0 [0/1]; 17:76421467A>G NM_173628.3:c.13101T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76421709C>A NM_173628.3:c.12916-57G>T:p.(=) pathogenicity:0.0 [0/1]; 17:76422316G>GCT NM_173628.3:c.12915+221_12915+222insAG:p.(=) pathogenicity:0.0 [./.]; 17:76422372T>C NM_173628.3:c.12915+166A>G:p.(=) pathogenicity:0.0 [1/1]; 17:76422473T>C NM_173628.3:c.12915+65A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76422815A>G NM_173628.3:c.12772-134T>C:p.(=) pathogenicity:0.0 [0/0]; 17:76422872A>C NM_173628.3:c.12771+135T>G:p.(=) pathogenicity:0.0 [0/1]; 17:76422903A>G NM_173628.3:c.12771+104T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76422933G>C NM_173628.3:c.12771+74C>G:p.(=) pathogenicity:0.0 [0/1]; 17:76423097G>A NM_173628.3:c.12681C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76423358T>C NM_173628.3:c.12589-169A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76425176G>A NM_173628.3:c.12405+26C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76425480A>T NM_173628.3:c.12226-99T>A:p.(=) pathogenicity:0.0 [0/1]; 17:76425490T>C NM_173628.3:c.12226-109A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76425491G>A NM_173628.3:c.12226-110C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76426074T>G NM_173628.3:c.12226-693A>C:p.(=) pathogenicity:0.0 [./.]; 17:76431015C>T NM_173628.3:c.12034-714G>A:p.(=) pathogenicity:0.0 [./.]; 17:76433685A>G NM_173628.3:c.12033+38T>C:p.(=) pathogenicity:0.0 [1/1]; 17:76433898T>C NM_173628.3:c.11858A>G:p.(H3953R) pathogenicity:0.0 [1/1]; 17:76433899G>A NM_173628.3:c.11857C>T:p.(H3953Y) pathogenicity:0.0 [0/1]; 17:76435448C>T NM_173628.3:c.11678-149G>A:p.(=) pathogenicity:0.0 [0/1]; 17:76438166G>GA NM_173628.3:c.11529-886_11529-885insT:p.(=) pathogenicity:0.0 [1/1]; 17:76446689A>G NM_173628.3:c.10899+75T>C:p.(=) pathogenicity:0.0 [1/1]; 17:76449505G>C NM_173628.3:c.10449C>G:p.(=) pathogenicity:0.0 [1/1]; 17:76451921A>G NM_173628.3:c.9978-3T>C:p.? pathogenicity:0.0 [1/1]; 17:76452181T>G NM_173628.3:c.9978-263A>C:p.(=) pathogenicity:0.0 [1/1]; 17:76456352T>C NM_173628.3:c.9340-13A>G:p.(=) pathogenicity:0.0 [1/1]; 17:76456403C>CGTGCATGTGT NM_173628.3:c.9340-65_9340-64insACACATGCAC:p.(=) pathogenicity:0.0 [1/1]; 17:76457559T>G NM_173628.3:c.9339+67A>C:p.(=) pathogenicity:0.0 [1/1]; 17:76462770G>A NM_173628.3:c.8907C>T:p.(=) pathogenicity:0.0 [1/1]; 17:76462874C>G NM_173628.3:c.8803G>C:p.(G2935R) pathogenicity:1.0 [0/1]; 17:76471352G>A NM_173628.3:c.8511+8C>T:p.? pathogenicity:0.8 [0/1]; 17:76474692G>A NM_173628.3:c.7992+415C>T:p.(=) pathogenicity:0.0 [1/1]; 17:76474701C>CCCA NM_173628.3:c.7992+405_7992+406insTGG:p.(=) pathogenicity:0.0 [1/1]; 17:76475067A>G NM_173628.3:c.7992+40T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76475809T>C NM_173628.3:c.7753-95A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76481608A>G NM_173628.3:c.7483+24T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76481693C>G NM_173628.3:c.7422G>C:p.(=) pathogenicity:0.0 [0/1]; 17:76481997T>C NM_173628.3:c.7275+45A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76482256A>G NM_173628.3:c.7102-41T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76482432A>G NM_173628.3:c.6975T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76482856G>A NM_173628.3:c.6819-268C>T:p.(=) pathogenicity:0.0 [1/1]; 17:76484948C>T NM_173628.3:c.6818+1833G>A:p.(=) pathogenicity:0.0 [./.]; 17:76485703C>T NM_173628.3:c.6818+1078G>A:p.(=) pathogenicity:0.0 [1/1]; 17:76486569T>C NM_173628.3:c.6818+212A>G:p.(=) pathogenicity:0.0 [1/1]; 17:76488973A>G NM_173628.3:c.6409-126T>C:p.(=) pathogenicity:0.0 [./.]; 17:76490083G>A NM_173628.3:c.6408+35C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76490462GC>G NM_173628.3:c.6271-208del:p.(=) pathogenicity:0.0 [1/1]; 17:76490991G>A NM_173628.3:c.6042+50C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76491127T>C NM_173628.3:c.5956A>G:p.(M1986V) pathogenicity:0.0 [1/1]; 17:76491128G>C NM_173628.3:c.5955C>G:p.(=) pathogenicity:0.0 [1/1]; 17:76491194G>A NM_173628.3:c.5904-15C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76491211G>A NM_173628.3:c.5904-32C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76491731G>A NM_173628.3:c.5903+226C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76492448GA>G NM_173628.3:c.5746-335del:p.(=) pathogenicity:0.0 [1/1]; 17:76495050C>T NM_173628.3:c.5745+40G>A:p.(=) pathogenicity:0.0 [1/1]; 17:76495359T>C NM_173628.3:c.5641-165A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76496350A>C NM_173628.3:c.5640+37T>G:p.(=) pathogenicity:0.0 [0/1]; 17:76496361C>G NM_173628.3:c.5640+26G>C:p.(=) pathogenicity:0.0 [0/1]; 17:76496492A>G NM_173628.3:c.5535T>C:p.(=) pathogenicity:0.0 [1/1]; 17:76496577C>T NM_173628.3:c.5484-34G>A:p.(=) pathogenicity:0.0 [1/1]; 17:76496665A>G NM_173628.3:c.5484-122T>C:p.(=) pathogenicity:0.0 [1/1]; 17:76497778T>C NM_173628.3:c.5322+46A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76497920C>A NM_173628.3:c.5226G>T:p.(M1742I) pathogenicity:0.0 [1/1]; 17:76498692C>T NM_173628.3:c.5171G>A:p.(R1724K) pathogenicity:0.0 [1/1]; 17:76498844A>G NM_173628.3:c.5083-64T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76499293GCT>G NM_173628.3:c.4957-202_4957-201del:p.(=) pathogenicity:0.0 [0/1]; 17:76499324T>C NM_173628.3:c.4957-231A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76499354C>T NM_173628.3:c.4957-261G>A:p.(=) pathogenicity:0.0 [0/0]; 17:76500553ACCACCCCAC>A NM_173628.3:c.4956+813_4956+821del:p.(=) pathogenicity:0.0 [./.]; 17:76502615C>T NM_173628.3:c.4803+187G>A:p.(=) pathogenicity:0.0 [1/1]; 17:76502634G>A NM_173628.3:c.4803+168C>T:p.(=) pathogenicity:0.0 [1/1]; 17:76502734T>C NM_173628.3:c.4803+68A>G:p.(=) pathogenicity:0.0 [1/1]; 17:76503527G>A NM_173628.3:c.4584+13C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76503593T>C NM_173628.3:c.4531A>G:p.(T1511A) pathogenicity:0.0 [1/1]; 17:76503966T>C NM_173628.3:c.4237-79A>G:p.(=) pathogenicity:0.0 [1/1]; 17:76506607G>A NM_173628.3:c.4114-19C>T:p.(=) pathogenicity:0.0 [1/1]; 17:76506817A>G NM_173628.3:c.4114-229T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76506975G>A NM_173628.3:c.4114-387C>T:p.(=) pathogenicity:0.0 [1/1]; 17:76506994C>G NM_173628.3:c.4114-406G>C:p.(=) pathogenicity:0.0 [1/1]; 17:76521387T>C NM_173628.3:c.3712-144A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76523314T>A NM_173628.3:c.3508-236A>T:p.(=) pathogenicity:0.0 [1/1]; 17:76523315T>A NM_173628.3:c.3508-237A>T:p.(=) pathogenicity:0.0 [1/1]; 17:76523317T>A NM_173628.3:c.3508-239A>T:p.(=) pathogenicity:0.0 [1/1]; 17:76534533C>G NM_173628.3:c.2677-970G>C:p.(=) pathogenicity:0.0 [1/1]; 17:76534817G>C NM_173628.3:c.2676+1002C>G:p.(=) pathogenicity:0.0 [./.]; 17:76535759T>C NM_173628.3:c.2676+60A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76535948T>C NM_173628.3:c.2547A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76537697A>G NM_173628.3:c.2533-1735T>C:p.(=) pathogenicity:0.0 [1/1]; 17:76537849A>C NM_173628.3:c.2533-1887T>G:p.(=) pathogenicity:0.0 [./.]; 17:76554114A>G NM_173628.3:c.2178+76T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76554147A>G NM_173628.3:c.2178+43T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76557862T>C NM_173628.3:c.1770A>G:p.(=) pathogenicity:0.0 [1/1]; 17:76559163T>C NM_173628.3:c.1570-1101A>G:p.(=) pathogenicity:0.0 [./.]; 17:76560563A>G NM_173628.3:c.1569+2133T>C:p.(=) pathogenicity:0.0 [./.]; 17:76565341G>A NM_173628.3:c.1198-7C>T:p.? pathogenicity:0.0 [0/1]; 17:76566106T>C NM_173628.3:c.1044+223A>G:p.(=) pathogenicity:0.0 [0/1]; 17:76566119C>T NM_173628.3:c.1044+210G>A:p.(=) pathogenicity:0.0 [1/1]; 17:76567013C>T NM_173628.3:c.918+17G>A:p.(=) pathogenicity:0.0 [0/1]; 17:76567332C>A NM_173628.3:c.832+29G>T:p.(=) pathogenicity:0.0 [0/1]; 17:76567707T>C NM_173628.3:c.697A>G:p.(T233A) pathogenicity:0.0 [1/1]; 17:76567883G>C NM_173628.3:c.540-19C>G:p.(=) pathogenicity:0.0 [0/1]; 17:76567910G>A NM_173628.3:c.540-46C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76568020C>A NM_173628.3:c.540-156G>T:p.(=) pathogenicity:0.0 [0/1]; 17:76568716G>T NM_173628.3:c.539+67C>A:p.(=) pathogenicity:0.0 [0/1]; 17:76568881A>G NM_173628.3:c.441T>C:p.(=) pathogenicity:0.0 [0/1]; 17:76569056G>T NM_173628.3:c.346-80C>A:p.(=) pathogenicity:0.0 [0/1]; 17:76570771G>A NM_173628.3:c.345+24C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76571269A>C NM_173628.3:c.-25-105T>G:p.(=) pathogenicity:0.0 [0/1]; 17:76573316G>A NM_173628.3:c.-26+61C>T:p.(=) pathogenicity:0.0 [0/1]; 17:76573682A>G NM_173628.3:: pathogenicity:0.0 [0/1]; 17:76580658A>C XR_243765.1:: pathogenicity:0.0 [1/1]; 17:76582668T>C XR_243765.1:: pathogenicity:0.0 [0/1]; 17:76583588C>T XR_243765.1:: pathogenicity:0.0 [1/1]; 17:76583605T>C XR_243765.1:: pathogenicity:0.0 [1/1]; 17:76584067T>C XR_243765.1:: pathogenicity:0.0 [./.]; 17:76596478CT>C XR_243765.1:: pathogenicity:0.0 [1/1]
150
+ 141 Usher syndrome, type IIC OMIM:605472 1/8371 0.00% -10.133 NCBIGene:84059 5:89828016T>TTTA NM_198273.1:: pathogenicity:0.0 [1/1]; 5:89830061A>G NM_198273.1:: pathogenicity:0.0 [1/1]; 5:89836558A>T NM_198273.1:: pathogenicity:0.0 [1/1]; 5:89854448G>C NM_032119.3:: pathogenicity:0.0 [1/1]; 5:89868937T>TCA NM_032119.3:c.22+14203_22+14204insCA:p.(=) pathogenicity:0.0 [1/1]; 5:89882618G>T NM_032119.3:c.22+27884G>T:p.(=) pathogenicity:0.0 [0/1]; 5:89914687A>G NM_032119.3:c.358-216A>G:p.(=) pathogenicity:0.0 [0/1]; 5:89918232C>A NM_032119.3:c.454-182C>A:p.(=) pathogenicity:0.0 [0/1]; 5:89918620CGATCTCAG>C NM_032119.3:c.558+103_558+110del:p.(=) pathogenicity:0.0 [0/1]; 5:89918632A>C NM_032119.3:c.558+114A>C:p.(=) pathogenicity:0.0 [0/1]; 5:89918634T>G NM_032119.3:c.558+116T>G:p.(=) pathogenicity:0.0 [0/1]; 5:89918636CA>C NM_032119.3:c.558+119del:p.(=) pathogenicity:0.0 [0/1]; 5:89918639CCT>C NM_032119.3:c.558+122_558+123del:p.(=) pathogenicity:0.0 [0/1]; 5:89918813G>C NM_032119.3:c.558+295G>C:p.(=) pathogenicity:0.0 [./.]; 5:89919820A>G NM_032119.3:c.559-1127A>G:p.(=) pathogenicity:0.0 [./.]; 5:89919826A>G NM_032119.3:c.559-1121A>G:p.(=) pathogenicity:0.0 [./.]; 5:89922763G>A NM_032119.3:c.673-265G>A:p.(=) pathogenicity:0.0 [./.]; 5:89923667A>T NM_032119.3:c.1238+74A>T:p.(=) pathogenicity:0.0 [1/1]; 5:89925410C>T NM_032119.3:c.1839+54C>T:p.(=) pathogenicity:0.0 [0/1]; 5:89931159CA>C NM_032119.3:c.2016+53del:p.(=) pathogenicity:0.0 [0/1]; 5:89933828AT>A NM_032119.3:c.2240+64del:p.(=) pathogenicity:0.0 [0/1]; 5:89934843A>C NM_032119.3:c.2240+1078A>C:p.(=) pathogenicity:0.0 [1/1]; 5:89937430A>G NM_032119.3:c.2241-1023A>G:p.(=) pathogenicity:0.0 [0/0]; 5:89938434G>T NM_032119.3:c.2241-19G>T:p.(=) pathogenicity:0.0 [0/1]; 5:89938587C>T NM_032119.3:c.2367+8C>T:p.? pathogenicity:0.0 [0/1]; 5:89939480G>A NM_032119.3:c.2554-140G>A:p.(=) pathogenicity:0.0 [0/1]; 5:89940005G>C NM_032119.3:c.2734+205G>C:p.(=) pathogenicity:0.0 [0/0]; 5:89940771A>G NM_032119.3:c.2898+85A>G:p.(=) pathogenicity:0.0 [0/1]; 5:89941743T>C NM_032119.3:c.2899-42T>C:p.(=) pathogenicity:0.0 [0/1]; 5:89969880A>G NM_032119.3:c.4939A>G:p.(I1647V) pathogenicity:0.3 [0/1]; 5:89981414TATAA>T NM_032119.3:c.6275-182_6275-179del:p.(=) pathogenicity:0.0 [0/1]; 5:90107108A>G NM_032119.3:c.16031A>G:p.(E5344G) pathogenicity:0.0 [1/1]; 5:90109218A>G NM_032119.3:c.16078+2063A>G:p.(=) pathogenicity:0.0 [1/1]; 5:90109230T>C NM_032119.3:c.16078+2075T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90111700T>C NM_032119.3:c.16196+147T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90119324G>A NM_032119.3:c.16279G>A:p.(V5427M) pathogenicity:0.0 [1/1]; 5:90119922T>A NM_032119.3:c.16368+509T>A:p.(=) pathogenicity:0.0 [./.]; 5:90133981A>G NM_032119.3:c.16612-2414A>G:p.(=) pathogenicity:0.0 [1/1]; 5:90151630C>G NM_032119.3:c.17667C>G:p.(H5889Q) pathogenicity:1.0 [0/1]; 5:90194889G>T NM_032119.3:c.17856+35215G>T:p.(=) pathogenicity:0.0 [1/1]; 5:90216806G>A NM_032119.3:c.17857-44426G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90229530C>A NM_032119.3:c.17857-31702C>A:p.(=) pathogenicity:0.0 [1/1]; 5:90229542A>G NM_032119.3:c.17857-31690A>G:p.(=) pathogenicity:0.0 [1/1]; 5:90232132T>C NM_032119.3:c.17857-29100T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90236647AC>A NM_032119.3:c.17857-24584del:p.(=) pathogenicity:0.0 [1/1]; 5:90238905G>A NM_032119.3:c.17857-22327G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90300039G>A NM_032119.3:c.18152+18700G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90300419A>ACT NM_032119.3:c.18152+19080_18152+19081insCT:p.(=) pathogenicity:0.0 [./.]; 5:90305586T>C NM_032119.3:c.18152+24247T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90307152C>T NM_032119.3:c.18152+25813C>T:p.(=) pathogenicity:0.0 [1/1]; 5:90311099T>G NM_032119.3:c.18152+29760T>G:p.(=) pathogenicity:0.0 [1/1]; 5:90314653G>A NM_032119.3:c.18152+33314G>A:p.(=) pathogenicity:0.0 [1/1]; 5:90317558A>C NM_032119.3:c.18152+36219A>C:p.(=) pathogenicity:0.0 [1/1]; 5:90322671C>G NM_032119.3:c.18152+41332C>G:p.(=) pathogenicity:0.0 [1/1]; 5:90326582T>C NM_032119.3:c.18153-41682T>C:p.(=) pathogenicity:0.0 [1/1]; 5:90330959A>C NM_032119.3:c.18153-37305A>C:p.(=) pathogenicity:0.0 [1/1]; 5:90349562A>C NM_032119.3:c.18153-18702A>C:p.(=) pathogenicity:0.0 [1/1]; 5:90356690A>G NM_032119.3:c.18153-11574A>G:p.(=) pathogenicity:0.0 [./.]; 5:90368596C>T NM_032119.3:c.18310+175C>T:p.(=) pathogenicity:0.0 [1/1]; 5:90389450A>C NM_032119.3:c.18311-8586A>C:p.(=) pathogenicity:0.0 [./.]; 5:90405193G>A NM_032119.3:c.18432+7036G>A:p.(=) pathogenicity:0.0 [./.]; 5:90445829T>TTC NM_032119.3:c.18433-18_18433-17insTC:p.(=) pathogenicity:0.0 [0/1]; 5:90449031T>C NM_032119.3:c.18625-7T>C:p.? pathogenicity:0.0 [1/1]; 5:90464827T>C XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90464937T>C XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90471077T>G XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90542492A>G XM_005248613.1:: pathogenicity:0.0 [1/1]; 5:90543970G>A XM_005248613.1:: pathogenicity:0.0 [./.]; 5:90562003G>A XM_005248613.1:: pathogenicity:0.0 [1/1]
151
+ 142 Usher syndrome, type IIA OMIM:276901 1/8371 0.00% -10.134 NCBIGene:7399 1:215798014G>A NM_206933.2:c.*1109C>T:p.(=) pathogenicity:0.0 [1/1]; 1:215844373C>T NM_206933.2:c.14074G>A:p.(G4692R) pathogenicity:0.8 [0/1]; 1:215848587T>C NM_206933.2:c.12666A>G:p.(=) pathogenicity:0.0 [0/1]; 1:215848641T>C NM_206933.2:c.12612G>G:p.(=) pathogenicity:0.0 [1/1]; 1:215853748GT>G NM_206933.2:c.12067-31del:p.(=) pathogenicity:0.0 [1/1]; 1:215859558G>C NM_206933.2:c.12067-5840C>G:p.(=) pathogenicity:0.0 [0/1]; 1:215860933G>C NM_206933.2:c.12067-7215C>G:p.(=) pathogenicity:0.0 [1/1]; 1:215878043C>T NM_206933.2:c.12066+23329G>A:p.(=) pathogenicity:0.0 [0/1]; 1:215888712G>T NM_206933.2:c.12066+12660C>A:p.(=) pathogenicity:0.0 [1/1]; 1:215895456G>A NM_206933.2:c.12066+5916C>T:p.(=) pathogenicity:0.0 [./.]; 1:215899617T>C NM_206933.2:c.12066+1755A>G:p.(=) pathogenicity:0.0 [1/1]; 1:215914646T>A NM_206933.2:c.11711+71A>T:p.(=) pathogenicity:0.0 [0/1]; 1:215914826T>C NM_206933.2:c.11602A>G:p.(M3868V) pathogenicity:0.0 [0/1]; 1:215916563G>A NM_206933.2:c.11504C>T:p.(T3835I) pathogenicity:0.0 [0/1]; 1:215916683AAG>A NM_206933.2:c.11390-8_11390-7del:p.? pathogenicity:0.0 [0/0]; 1:215916732G>A NM_206933.2:c.11390-55C>T:p.(=) pathogenicity:0.0 [0/0]; 1:215930261TAAAC>T NM_206933.2:c.11389+1672_11389+1675del:p.(=) pathogenicity:0.0 [./.]; 1:215930281C>T NM_206933.2:c.11389+1656G>A:p.(=) pathogenicity:0.0 [./.]; 1:215931922CT>C NM_206933.2:c.11389+14del:p.(=) pathogenicity:0.0 [0/1]; 1:215932743T>G NM_206933.2:c.11231+259A>C:p.(=) pathogenicity:0.0 [./.]; 1:215955937T>G NM_206933.2:c.10585+143A>C:p.(=) pathogenicity:0.0 [0/0]; 1:215956304A>G NM_206933.2:c.10388-27T>C:p.(=) pathogenicity:0.0 [0/1]; 1:215960167T>G NM_206933.2:c.10232A>C:p.(E3411A) pathogenicity:0.0 [0/1]; 1:215992860A>G NM_206933.2:c.9372-2323T>C:p.(=) pathogenicity:0.0 [1/1]; 1:215997264A>T NM_206933.2:c.9372-6727T>A:p.(=) pathogenicity:0.0 [./.]; 1:216010475T>C NM_206933.2:c.9371+858A>G:p.(=) pathogenicity:0.0 [0/1]; 1:216076263A>G NM_206933.2:c.7301-2016T>C:p.(=) pathogenicity:0.0 [0/1]; 1:216096960G>A NM_206933.2:c.7300+10998C>T:p.(=) pathogenicity:0.0 [./.]; 1:216140606G>T NM_206933.2:c.6958-1785C>A:p.(=) pathogenicity:0.0 [1/1]; 1:216145503G>A NM_206933.2:c.6806-1385C>T:p.(=) pathogenicity:0.0 [1/1]; 1:216152546G>T NM_206933.2:c.6806-8428C>A:p.(=) pathogenicity:0.0 [1/1]; 1:216161542C>G NM_206933.2:c.6805+4820G>C:p.(=) pathogenicity:0.0 [./.]; 1:216172380A>G NM_206933.2:c.6506T>C:p.(I2169T) pathogenicity:0.0 [0/1]; 1:216172585G>A NM_206933.2:c.6486-185C>T:p.(=) pathogenicity:0.0 [1/1]; 1:216201137C>T NM_206933.2:c.6325+18636G>A:p.(=) pathogenicity:0.0 [./.]; 1:216218701C>A NM_206933.2:c.6325+1072G>T:p.(=) pathogenicity:0.0 [./.]; 1:216219781A>G NM_206933.2:c.6317C>C:p.(=) pathogenicity:0.0 [0/1]; 1:216233709G>A NM_206933.2:c.6049+9734C>T:p.(=) pathogenicity:0.0 [./.]; 1:216233710C>T NM_206933.2:c.6049+9733G>A:p.(=) pathogenicity:0.0 [./.]; 1:216246675AG>A NM_206933.2:c.5573-34del:p.(=) pathogenicity:0.0 [1/1]; 1:216258251T>C NM_206933.2:c.4988-32A>G:p.(=) pathogenicity:0.0 [0/1]; 1:216295582G>A NM_206933.2:c.4628-25027C>T:p.(=) pathogenicity:0.0 [./.]; 1:216336988C>CATT NM_206933.2:c.4627+11605_4627+11606insAAT:p.(=) pathogenicity:0.0 [./.]; 1:216348764C>T NM_007123.5:c.4457A>A:p.(=) pathogenicity:0.0 [1/1]; 1:216370130T>G NM_007123.5:c.4082-66A>C:p.(=) pathogenicity:0.0 [1/1]; 1:216390475C>T NM_007123.5:c.3157+254G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216390694C>T NM_007123.5:c.3157+35G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216413863TAA>T NM_007123.5:c.2809+6062_2809+6063del:p.(=) pathogenicity:0.0 [1/1]; 1:216416693C>T NM_007123.5:c.2809+3234G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216417675T>C NM_007123.5:c.2809+2252A>G:p.(=) pathogenicity:0.0 [1/1]; 1:216432747TA>T NM_007123.5:c.1972-8308del:p.(=) pathogenicity:0.0 [./.]; 1:216438977GATAT>G NM_007123.5:c.1972-14541_1972-14538del:p.(=) pathogenicity:0.0 [./.]; 1:216446653G>A NM_007123.5:c.1971+15969C>T:p.(=) pathogenicity:0.0 [./.]; 1:216446831A>G NM_007123.5:c.1971+15791T>C:p.(=) pathogenicity:0.0 [./.]; 1:216464503CA>C NM_007123.5:c.1840+1013del:p.(=) pathogenicity:0.0 [./.]; 1:216549056T>C NM_007123.5:c.652-10629A>G:p.(=) pathogenicity:0.0 [1/1]; 1:216552091C>T NM_007123.5:c.652-13664G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216563355TAA>T NM_007123.5:c.652-24930_652-24929del:p.(=) pathogenicity:0.0 [./.]; 1:216577373A>G NM_007123.5:c.651+14483T>C:p.(=) pathogenicity:0.0 [1/1]; 1:216588378G>T NM_007123.5:c.651+3478C>A:p.(=) pathogenicity:0.0 [0/1]; 1:216588416G>T NM_007123.5:c.651+3440C>A:p.(=) pathogenicity:0.0 [0/1]; 1:216592003T>C NM_007123.5:c.504A>G:p.(=) pathogenicity:0.0 [1/1]; 1:216595306C>T NM_007123.5:c.373G>A:p.(A125T) pathogenicity:0.0 [1/1]; 1:216632660A>G NM_001243519.1:: pathogenicity:0.0 [./.]; 1:216636950A>T NM_001243519.1:: pathogenicity:0.0 [./.]; 1:216653007C>T NM_001243519.1:: pathogenicity:0.0 [1/1]; 1:216658109T>C NM_001243519.1:: pathogenicity:0.0 [./.]; 1:216658145A>C NM_001243519.1:: pathogenicity:0.0 [./.]
152
+ 143 Retinitis pigmentosa 39 OMIM:613809 1/8371 0.00% -10.134 NCBIGene:7399 1:215798014G>A NM_206933.2:c.*1109C>T:p.(=) pathogenicity:0.0 [1/1]; 1:215844373C>T NM_206933.2:c.14074G>A:p.(G4692R) pathogenicity:0.8 [0/1]; 1:215848587T>C NM_206933.2:c.12666A>G:p.(=) pathogenicity:0.0 [0/1]; 1:215848641T>C NM_206933.2:c.12612G>G:p.(=) pathogenicity:0.0 [1/1]; 1:215853748GT>G NM_206933.2:c.12067-31del:p.(=) pathogenicity:0.0 [1/1]; 1:215859558G>C NM_206933.2:c.12067-5840C>G:p.(=) pathogenicity:0.0 [0/1]; 1:215860933G>C NM_206933.2:c.12067-7215C>G:p.(=) pathogenicity:0.0 [1/1]; 1:215878043C>T NM_206933.2:c.12066+23329G>A:p.(=) pathogenicity:0.0 [0/1]; 1:215888712G>T NM_206933.2:c.12066+12660C>A:p.(=) pathogenicity:0.0 [1/1]; 1:215895456G>A NM_206933.2:c.12066+5916C>T:p.(=) pathogenicity:0.0 [./.]; 1:215899617T>C NM_206933.2:c.12066+1755A>G:p.(=) pathogenicity:0.0 [1/1]; 1:215914646T>A NM_206933.2:c.11711+71A>T:p.(=) pathogenicity:0.0 [0/1]; 1:215914826T>C NM_206933.2:c.11602A>G:p.(M3868V) pathogenicity:0.0 [0/1]; 1:215916563G>A NM_206933.2:c.11504C>T:p.(T3835I) pathogenicity:0.0 [0/1]; 1:215916683AAG>A NM_206933.2:c.11390-8_11390-7del:p.? pathogenicity:0.0 [0/0]; 1:215916732G>A NM_206933.2:c.11390-55C>T:p.(=) pathogenicity:0.0 [0/0]; 1:215930261TAAAC>T NM_206933.2:c.11389+1672_11389+1675del:p.(=) pathogenicity:0.0 [./.]; 1:215930281C>T NM_206933.2:c.11389+1656G>A:p.(=) pathogenicity:0.0 [./.]; 1:215931922CT>C NM_206933.2:c.11389+14del:p.(=) pathogenicity:0.0 [0/1]; 1:215932743T>G NM_206933.2:c.11231+259A>C:p.(=) pathogenicity:0.0 [./.]; 1:215955937T>G NM_206933.2:c.10585+143A>C:p.(=) pathogenicity:0.0 [0/0]; 1:215956304A>G NM_206933.2:c.10388-27T>C:p.(=) pathogenicity:0.0 [0/1]; 1:215960167T>G NM_206933.2:c.10232A>C:p.(E3411A) pathogenicity:0.0 [0/1]; 1:215992860A>G NM_206933.2:c.9372-2323T>C:p.(=) pathogenicity:0.0 [1/1]; 1:215997264A>T NM_206933.2:c.9372-6727T>A:p.(=) pathogenicity:0.0 [./.]; 1:216010475T>C NM_206933.2:c.9371+858A>G:p.(=) pathogenicity:0.0 [0/1]; 1:216076263A>G NM_206933.2:c.7301-2016T>C:p.(=) pathogenicity:0.0 [0/1]; 1:216096960G>A NM_206933.2:c.7300+10998C>T:p.(=) pathogenicity:0.0 [./.]; 1:216140606G>T NM_206933.2:c.6958-1785C>A:p.(=) pathogenicity:0.0 [1/1]; 1:216145503G>A NM_206933.2:c.6806-1385C>T:p.(=) pathogenicity:0.0 [1/1]; 1:216152546G>T NM_206933.2:c.6806-8428C>A:p.(=) pathogenicity:0.0 [1/1]; 1:216161542C>G NM_206933.2:c.6805+4820G>C:p.(=) pathogenicity:0.0 [./.]; 1:216172380A>G NM_206933.2:c.6506T>C:p.(I2169T) pathogenicity:0.0 [0/1]; 1:216172585G>A NM_206933.2:c.6486-185C>T:p.(=) pathogenicity:0.0 [1/1]; 1:216201137C>T NM_206933.2:c.6325+18636G>A:p.(=) pathogenicity:0.0 [./.]; 1:216218701C>A NM_206933.2:c.6325+1072G>T:p.(=) pathogenicity:0.0 [./.]; 1:216219781A>G NM_206933.2:c.6317C>C:p.(=) pathogenicity:0.0 [0/1]; 1:216233709G>A NM_206933.2:c.6049+9734C>T:p.(=) pathogenicity:0.0 [./.]; 1:216233710C>T NM_206933.2:c.6049+9733G>A:p.(=) pathogenicity:0.0 [./.]; 1:216246675AG>A NM_206933.2:c.5573-34del:p.(=) pathogenicity:0.0 [1/1]; 1:216258251T>C NM_206933.2:c.4988-32A>G:p.(=) pathogenicity:0.0 [0/1]; 1:216295582G>A NM_206933.2:c.4628-25027C>T:p.(=) pathogenicity:0.0 [./.]; 1:216336988C>CATT NM_206933.2:c.4627+11605_4627+11606insAAT:p.(=) pathogenicity:0.0 [./.]; 1:216348764C>T NM_007123.5:c.4457A>A:p.(=) pathogenicity:0.0 [1/1]; 1:216370130T>G NM_007123.5:c.4082-66A>C:p.(=) pathogenicity:0.0 [1/1]; 1:216390475C>T NM_007123.5:c.3157+254G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216390694C>T NM_007123.5:c.3157+35G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216413863TAA>T NM_007123.5:c.2809+6062_2809+6063del:p.(=) pathogenicity:0.0 [1/1]; 1:216416693C>T NM_007123.5:c.2809+3234G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216417675T>C NM_007123.5:c.2809+2252A>G:p.(=) pathogenicity:0.0 [1/1]; 1:216432747TA>T NM_007123.5:c.1972-8308del:p.(=) pathogenicity:0.0 [./.]; 1:216438977GATAT>G NM_007123.5:c.1972-14541_1972-14538del:p.(=) pathogenicity:0.0 [./.]; 1:216446653G>A NM_007123.5:c.1971+15969C>T:p.(=) pathogenicity:0.0 [./.]; 1:216446831A>G NM_007123.5:c.1971+15791T>C:p.(=) pathogenicity:0.0 [./.]; 1:216464503CA>C NM_007123.5:c.1840+1013del:p.(=) pathogenicity:0.0 [./.]; 1:216549056T>C NM_007123.5:c.652-10629A>G:p.(=) pathogenicity:0.0 [1/1]; 1:216552091C>T NM_007123.5:c.652-13664G>A:p.(=) pathogenicity:0.0 [1/1]; 1:216563355TAA>T NM_007123.5:c.652-24930_652-24929del:p.(=) pathogenicity:0.0 [./.]; 1:216577373A>G NM_007123.5:c.651+14483T>C:p.(=) pathogenicity:0.0 [1/1]; 1:216588378G>T NM_007123.5:c.651+3478C>A:p.(=) pathogenicity:0.0 [0/1]; 1:216588416G>T NM_007123.5:c.651+3440C>A:p.(=) pathogenicity:0.0 [0/1]; 1:216592003T>C NM_007123.5:c.504A>G:p.(=) pathogenicity:0.0 [1/1]; 1:216595306C>T NM_007123.5:c.373G>A:p.(A125T) pathogenicity:0.0 [1/1]; 1:216632660A>G NM_001243519.1:: pathogenicity:0.0 [./.]; 1:216636950A>T NM_001243519.1:: pathogenicity:0.0 [./.]; 1:216653007C>T NM_001243519.1:: pathogenicity:0.0 [1/1]; 1:216658109T>C NM_001243519.1:: pathogenicity:0.0 [./.]; 1:216658145A>C NM_001243519.1:: pathogenicity:0.0 [./.]