MYO1F — 346 ClinVar variants
All ClinVar germline MYO1F variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
4 Conflicting · 94 Benign · 6 Benign/Likely benign · 65 Likely benign · 177 Uncertain significance
Full MYO1F gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 126
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MYO1F p.Ser891Thr Uncertain significance Multiple submitters
- MYO1F p.Ala157Thr Uncertain significance Single submitter
- MYO1F p.Ala295Thr Uncertain significance Single submitter
- MYO1F p.Ala307Thr Uncertain significance Single submitter
- MYO1F p.Ala485Val Uncertain significance Single submitter
- MYO1F p.Ala498Thr Uncertain significance Single submitter
- MYO1F p.Ala697Val Uncertain significance Single submitter
- MYO1F p.Ala77Thr Uncertain significance Single submitter
- MYO1F p.Ala77Val Uncertain significance Single submitter
- MYO1F p.Ala931Asp Uncertain significance Single submitter
- MYO1F p.Arg1040Gln Uncertain significance Single submitter
- MYO1F p.Arg161Pro Uncertain significance Single submitter
- MYO1F p.Arg196His Uncertain significance Single submitter
- MYO1F p.Arg324His Uncertain significance Single submitter
- MYO1F p.Arg329His Uncertain significance Single submitter
- MYO1F p.Arg360His Uncertain significance Single submitter
- MYO1F p.Arg432His Uncertain significance Single submitter
- MYO1F p.Arg521Gln Uncertain significance Single submitter
- MYO1F p.Arg594Leu Uncertain significance Single submitter
- MYO1F p.Arg624His Uncertain significance Single submitter
- MYO1F p.Arg644Gln Uncertain significance Single submitter
- MYO1F p.Arg646His Uncertain significance Single submitter
- MYO1F p.Arg658Gln Uncertain significance Single submitter
- MYO1F p.Arg706His Uncertain significance Single submitter
- MYO1F p.Arg711Gln Uncertain significance Single submitter
- MYO1F p.Arg737Trp Uncertain significance Single submitter
- MYO1F p.Arg773Cys Uncertain significance Single submitter
- MYO1F p.Arg774Cys Uncertain significance Single submitter
- MYO1F p.Arg780Gln Uncertain significance Single submitter
- MYO1F p.Arg780Gly Uncertain significance Single submitter
- MYO1F p.Arg780Trp Uncertain significance Single submitter
- MYO1F p.Arg794Gln Uncertain significance Single submitter
- MYO1F p.Arg820Gln Uncertain significance Single submitter
- MYO1F p.Arg896Cys Uncertain significance Single submitter
- MYO1F p.Arg982Gly Uncertain significance Single submitter
- MYO1F p.Arg994Gln Uncertain significance Single submitter
- MYO1F p.Arg996Gly Uncertain significance Single submitter
- MYO1F p.Arg998His Uncertain significance Single submitter
- MYO1F p.Asn1004Ser Uncertain significance Single submitter
- MYO1F p.Asn1063Ser Uncertain significance Single submitter
- MYO1F p.Asn396Ser Uncertain significance Single submitter
- MYO1F p.Asn956Asp Uncertain significance Single submitter
- MYO1F p.Asn96Ser Uncertain significance Single submitter
- MYO1F p.Asp142Ala Uncertain significance Single submitter
- MYO1F p.Asp231Asn Uncertain significance Single submitter
- MYO1F p.Asp512Asn Uncertain significance Single submitter
- MYO1F p.Asp551Glu Uncertain significance Single submitter
- MYO1F p.Asp694Ala Uncertain significance Single submitter
- MYO1F p.Asp72Asn Uncertain significance Single submitter
- MYO1F p.Asp840Glu Uncertain significance Single submitter
- MYO1F p.Asp917Gly Uncertain significance Single submitter
- MYO1F p.Cys101Tyr Uncertain significance Single submitter
- MYO1F p.Cys856Gly Uncertain significance Single submitter
- MYO1F p.Gln223Glu Uncertain significance Single submitter
- MYO1F p.Gln533His Uncertain significance Single submitter
- MYO1F p.Gln835Arg Uncertain significance Single submitter
- MYO1F p.Glu1059Lys Uncertain significance Single submitter
- MYO1F p.Glu135Gln Uncertain significance Single submitter
- MYO1F p.Glu255Asp Uncertain significance Single submitter
- MYO1F p.Glu416Lys Uncertain significance Single submitter
- MYO1F p.Glu422Val Uncertain significance Single submitter
- MYO1F p.Glu530Lys Uncertain significance Single submitter
- MYO1F p.Glu546Lys Uncertain significance Single submitter
- MYO1F p.Glu714Gln Uncertain significance Single submitter
- MYO1F p.Glu751Lys Uncertain significance Single submitter
- MYO1F p.Glu802Gln Uncertain significance Single submitter
- MYO1F p.Glu861Lys Uncertain significance Single submitter
- MYO1F p.Gly1043Ala Uncertain significance Single submitter
- MYO1F p.Gly331Ser Uncertain significance Single submitter
- MYO1F p.Gly332Arg Uncertain significance Single submitter
- MYO1F p.Gly560Ser Uncertain significance Single submitter
- MYO1F p.Gly620Ser Uncertain significance Single submitter
- MYO1F p.Gly933Glu Uncertain significance Single submitter
- MYO1F p.His12Leu Uncertain significance Single submitter
- MYO1F p.His208Gln Uncertain significance Single submitter
- MYO1F p.His504Arg Uncertain significance Single submitter
- MYO1F p.Ile1098Leu Uncertain significance Single submitter
- MYO1F p.Ile50Val Uncertain significance Single submitter
- MYO1F p.Ile792Val Uncertain significance Single submitter
- MYO1F p.Ile99Met Uncertain significance Single submitter
- MYO1F p.Leu281Phe Uncertain significance Single submitter
- MYO1F p.Leu548Val Uncertain significance Single submitter
- MYO1F p.Leu685Val Uncertain significance Single submitter
- MYO1F p.Leu744Pro Uncertain significance Single submitter
- MYO1F p.Leu901Phe Uncertain significance Single submitter
- MYO1F p.Lys15Arg Uncertain significance Single submitter
- MYO1F p.Lys170Gln Uncertain significance Single submitter
- MYO1F p.Lys905Arg Uncertain significance Single submitter
- MYO1F p.Lys924Arg Uncertain significance Single submitter
- MYO1F p.Met124Thr Uncertain significance Single submitter
- MYO1F p.Phe168Ser Uncertain significance Single submitter
- MYO1F p.Phe172Val Uncertain significance Single submitter
- MYO1F p.Pro1037Ser Uncertain significance Single submitter
- MYO1F p.Pro266Leu Uncertain significance Single submitter
- MYO1F p.Pro306Ser Uncertain significance Single submitter
- MYO1F p.Pro643Leu Uncertain significance Single submitter
- MYO1F p.Pro950Arg Uncertain significance Single submitter
- MYO1F p.Pro959Ala Uncertain significance Single submitter
- MYO1F p.Pro959Thr Uncertain significance Single submitter
- MYO1F p.Pro960Ser Uncertain significance Single submitter
- MYO1F p.Pro966Ser Uncertain significance Single submitter
- MYO1F p.Pro985Leu Uncertain significance Single submitter
- MYO1F p.Pro995Leu Uncertain significance Single submitter
- MYO1F p.Ser1023Arg Uncertain significance Single submitter
- MYO1F p.Ser239Leu Uncertain significance Single submitter
- MYO1F p.Ser514Arg Uncertain significance Single submitter
- MYO1F p.Ser681Leu Uncertain significance Single submitter
- MYO1F p.Ser914Asn Uncertain significance Single submitter
- MYO1F p.Ser992Arg Uncertain significance Single submitter
- MYO1F p.Thr434Pro Uncertain significance Single submitter
- MYO1F p.Thr471Met Uncertain significance Single submitter
- MYO1F p.Thr641Ala Uncertain significance Single submitter
- MYO1F p.Thr90Met Uncertain significance Single submitter
- MYO1F p.Trp645Ser Uncertain significance Single submitter
- MYO1F p.Tyr505Cys Uncertain significance Single submitter
- MYO1F p.Tyr623His Uncertain significance Single submitter
- MYO1F p.Tyr634Cys Uncertain significance Single submitter
- MYO1F p.Val1064Met Uncertain significance Single submitter
- MYO1F p.Val140Ile Uncertain significance Single submitter
- MYO1F p.Val140Phe Uncertain significance Single submitter
- MYO1F p.Val460Ala Uncertain significance Single submitter
- MYO1F p.Val501Ile Uncertain significance Single submitter
- MYO1F p.Val708Met Uncertain significance Single submitter
- MYO1F p.Val710Ile Uncertain significance Single submitter
- MYO1F p.Val915Leu Uncertain significance Single submitter
-
MYO1F p.Arg594Gln
Uncertain significance
No assertion criteria
Bilateral sensorineural hearing impairment
Predictors split 46
The independent predictors disagree with each other — read with care.
- MYO1F p.Arg432Cys Likely benign Multiple submitters
- MYO1F p.Gly821Arg Likely benign Multiple submitters
- MYO1F p.Arg1027Trp Uncertain significance Single submitter
- MYO1F p.Arg1047Gln Uncertain significance Single submitter
- MYO1F p.Arg1082Gln Uncertain significance Single submitter
- MYO1F p.Arg1082Trp Uncertain significance Single submitter
- MYO1F p.Arg371Cys Uncertain significance Single submitter
- MYO1F p.Arg38Trp Uncertain significance Single submitter
- MYO1F p.Arg541Trp Uncertain significance Single submitter
- MYO1F p.Arg706Cys Uncertain significance Single submitter
- MYO1F p.Arg732His Uncertain significance Single submitter
- MYO1F p.Arg749Trp Uncertain significance Single submitter
- MYO1F p.Arg753Cys Uncertain significance Single submitter
- MYO1F p.Arg753His Uncertain significance Single submitter
- MYO1F p.Arg95Gln Uncertain significance Single submitter
- MYO1F p.Arg998Cys Uncertain significance Single submitter
- MYO1F p.Asn1063Thr Conflicting Single submitter
- MYO1F p.Asn13Lys Uncertain significance Single submitter
- MYO1F p.Asn13Ser Uncertain significance Single submitter
- MYO1F p.Asp231Ala Uncertain significance Single submitter
- MYO1F p.Asp549Tyr Uncertain significance Single submitter
- MYO1F p.Asp569Asn Likely benign Single submitter
- MYO1F p.Asp766His Uncertain significance Single submitter
- MYO1F p.Gln10Lys Uncertain significance Single submitter
- MYO1F p.Glu649Lys Conflicting Single submitter
- MYO1F p.Glu729Gly Uncertain significance Single submitter
- MYO1F p.Gly1085Asp Uncertain significance Single submitter
- MYO1F p.Gly246Ser Uncertain significance Single submitter
- MYO1F p.Gly383Ser Uncertain significance Single submitter
- MYO1F p.Ile312Thr Uncertain significance Single submitter
- MYO1F p.Ile529Thr Uncertain significance Single submitter
- MYO1F p.Lys712Thr Uncertain significance Single submitter
- MYO1F p.Lys798Arg Uncertain significance Single submitter
- MYO1F p.Lys812Asn Uncertain significance Single submitter
- MYO1F p.Met468Ile Uncertain significance Single submitter
- MYO1F p.Met93Thr Uncertain significance Single submitter
- MYO1F p.Phe877Ile Uncertain significance Single submitter
- MYO1F p.Ser453Arg Uncertain significance Single submitter
- MYO1F p.Ser767Trp Uncertain significance Single submitter
- MYO1F p.Ser853Asn Uncertain significance Single submitter
- MYO1F p.Thr672Ala Uncertain significance Single submitter
- MYO1F p.Trp9Arg Uncertain significance Single submitter
- MYO1F p.Val244Ala Uncertain significance Single submitter
- MYO1F p.Val262Leu Uncertain significance Single submitter
- MYO1F p.Val343Met Uncertain significance Single submitter
- MYO1F p.Val406Ile Uncertain significance Single submitter
All MYO1F variants
Conflicting classifications of pathogenicity 4
- p.Arg1022His Single submitter ⚠
- p.Asn1063Thr Single submitter ⚠
- p.Glu649Lys Single submitter ⚠
- p.Glu836Asp Single submitter ⚠
Benign 94
- c.1101+227G>A Multiple submitters
- c.1102-17C>G Multiple submitters
- c.1269+144A>G Multiple submitters
- c.1269+39T>G Multiple submitters
- c.1269+6C>T Multiple submitters
- c.1270-240T>C Multiple submitters
- c.1270-274G>A Multiple submitters
- c.1356+138T>G Multiple submitters
- c.1356+139A>C Multiple submitters
- c.1356+221T>C Multiple submitters
- c.1356+281C>T Multiple submitters
- c.1357-78C>T Multiple submitters
- c.1524+307C>G Multiple submitters
- c.1524+6C>G Multiple submitters
- c.1525-153T>C Multiple submitters
- c.1525-59G>A Multiple submitters
- c.1610+109G>A Multiple submitters
- c.1611-165A>G Multiple submitters
- c.1611-45A>G Multiple submitters
- c.1611-73C>T Multiple submitters
- c.1611-86G>A Multiple submitters
- c.1692+20C>T Multiple submitters
- c.1692+91C>T Multiple submitters
- c.1693-20C>T Multiple submitters
- c.1693-88A>C Multiple submitters
- c.1799+63G>C Multiple submitters
- c.1898+26C>T Multiple submitters
- c.1898+32C>A Multiple submitters
- c.2043+167C>T Multiple submitters
- c.2159-5C>T Multiple submitters
- c.232-6T>C Multiple submitters
- c.2328+187G>A Multiple submitters
- c.2474+15T>C Multiple submitters
- c.2474+179C>G Multiple submitters
- c.2622-87G>C Multiple submitters
- c.2854+193A>C Multiple submitters
- c.2855-187T>A Multiple submitters
- c.2855-69A>G Multiple submitters
- c.3+31A>G Multiple submitters
- c.3220+60G>A Multiple submitters
- c.3220+66G>A Multiple submitters
- c.327-103G>A Multiple submitters
- c.4-46G>A Multiple submitters
- c.414+25A>G Multiple submitters
- c.505-58C>T Multiple submitters
- c.637-55T>A Multiple submitters
- c.771+232G>A Multiple submitters
- c.771+241T>C Multiple submitters
- c.771+244G>A Multiple submitters
- c.772-11T>C Multiple submitters
- c.772-31C>T Multiple submitters
- c.772-90G>A Multiple submitters
- c.905-28A>G Multiple submitters
- c.*186G>C Multiple submitters
- p.Arg178Gln Multiple submitters
- p.Asp363Asn Multiple submitters
- p.Gln16= Multiple submitters
- p.Gly331= Multiple submitters
- p.His139= Multiple submitters
- p.Leu341= Multiple submitters
- p.Leu570= Multiple submitters
- p.Lys482= Multiple submitters
- p.Thr1005= Multiple submitters
- c.1102-284A>G Single submitter
- c.1102-285A>G Single submitter
- c.1102-288A>G Single submitter
- c.1102-289G>A Single submitter
- c.1269+48G>A Single submitter
- c.1357-164G>A Single submitter
- c.142-182A>G Single submitter
- c.1611-57del Single submitter
- c.1692+129A>T Single submitter
- c.1692+14G>A Single submitter
- c.1693-152C>A Single submitter
- c.1693-20_1693-19insCT Single submitter
- c.2043+201_2043+204del Single submitter
- c.2043+67GA[10] Single submitter
- c.2043+67GA[11] Single submitter
- c.2770+316C>T Single submitter
- c.2770+88GA[10] Single submitter
- c.2770+88GA[9] Single submitter
- c.2854+279del Single submitter
- c.2855-207del Single submitter
- c.3220+209C>T Single submitter
- c.326+19G>C Single submitter
- c.326+56_326+58dup Single submitter
- c.4-143T>C Single submitter
- c.4-181G>C Single submitter
- c.4-219dup Single submitter
- c.505-112dup Single submitter
- c.771+29G>A Single submitter
- p.Ile502Val Single submitter
- p.Pro1044= Single submitter
- p.Pro643= No assertion criteria MYO1F-related disorder
Benign/Likely benign 6
- p.Ala839Asp Multiple submitters
- p.Ala839Thr Multiple submitters
- p.Asp522= Multiple submitters
- p.Asp954Tyr Multiple submitters
- p.Lys186= Multiple submitters
- p.Phe390= Multiple submitters
Likely benign 65
- c.1270-61G>A Multiple submitters
- c.1610+15G>A Multiple submitters
- c.1693-29C>G Multiple submitters
- c.1800-53C>T Multiple submitters
- c.2044-11C>T Multiple submitters
- c.2044-38A>C Multiple submitters
- c.2474+73G>A Multiple submitters
- c.3221-22C>T Multiple submitters
- c.772-30G>A Multiple submitters
- c.*39A>G Multiple submitters
- p.Arg432Cys Multiple submitters ⚠
- p.Arg617= Multiple submitters
- p.Gly821Arg Multiple submitters ⚠
- p.His469= Multiple submitters
- p.Pro230= Multiple submitters
- p.Val1024Met Multiple submitters
- c.1101+3G>A Single submitter
- c.1102-4G>A Single submitter
- c.1269+6C>G Single submitter
- c.1524+9C>A Single submitter
- c.1692+7C>G Single submitter
- c.2622-40dup Single submitter
- c.3050+35G>C Single submitter
- c.3220+56G>A Single submitter
- c.505-50C>G Single submitter
- c.505-77C>T Single submitter
- c.904+76G>A Single submitter
- c.904+93G>C Single submitter
- c.-4C>A Single submitter
- c.*34C>T Single submitter
- p.Ala839Asn Single submitter
- p.Arg205= Single submitter
- p.Arg982Gln Single submitter
- p.Asn163= Single submitter
- p.Asp569Asn Single submitter ⚠
- p.Gln275= Single submitter
- p.Gly473= Single submitter
- p.Leu145= Single submitter
- p.Phe398= Single submitter
- p.Pro266= Single submitter
- p.Pro84= Single submitter
- p.Pro999Leu Single submitter
- p.Ser251= Single submitter
- p.Ser258Asn Single submitter
- p.Ser526= Single submitter
- p.Tyr1094= Single submitter
- p.Tyr771= Single submitter
- p.Val300Ala Single submitter
- p.Val366Met Single submitter
- p.Val688Met Single submitter
- p.Val906= Single submitter
- p.Val915= Single submitter
- c.1269+7G>A No assertion criteria MYO1F-related disorder
- c.2622-4A>G No assertion criteria MYO1F-related disorder
- c.3050+5G>A No assertion criteria MYO1F-related disorder
- c.4-4C>A No assertion criteria MYO1F-related disorder
- p.Ala498= No assertion criteria MYO1F-related disorder
- p.Arg1027Gln No assertion criteria MYO1F-related disorder
- p.Arg937= No assertion criteria MYO1F-related disorder
- p.Asn156= No assertion criteria MYO1F-related disorder
- p.Glu193= No assertion criteria MYO1F-related disorder
- p.Pro750= No assertion criteria MYO1F-related disorder
- p.Ser1076= No assertion criteria MYO1F-related disorder
- p.Ser314= No assertion criteria MYO1F-related disorder
- p.Thr67= No assertion criteria MYO1F-related disorder
Uncertain significance 177
- p.Ser891Thr Multiple submitters ⚠
- p.Ala157Thr Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala307Thr Single submitter ⚠
- p.Ala485Val Single submitter ⚠
- p.Ala498Thr Single submitter ⚠
- p.Ala697Val Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Ala931Asp Single submitter ⚠
- p.Arg1027Trp Single submitter ⚠
- p.Arg1040Gln Single submitter ⚠
- p.Arg1047Gln Single submitter ⚠
- p.Arg1082Gln Single submitter ⚠
- p.Arg1082Trp Single submitter ⚠
- p.Arg161Pro Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg296Ter Single submitter
- p.Arg324His Single submitter ⚠
- p.Arg329His Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg38Trp Single submitter ⚠
- p.Arg432His Single submitter ⚠
- p.Arg521Gln Single submitter ⚠
- p.Arg541Trp Single submitter ⚠
- p.Arg594Leu Single submitter ⚠
- p.Arg624His Single submitter ⚠
- p.Arg644Gln Single submitter ⚠
- p.Arg646His Single submitter ⚠
- p.Arg658Gln Single submitter ⚠
- p.Arg706Cys Single submitter ⚠
- p.Arg706His Single submitter ⚠
- p.Arg711Gln Single submitter ⚠
- p.Arg732His Single submitter ⚠
- p.Arg737Trp Single submitter ⚠
- p.Arg749Trp Single submitter ⚠
- p.Arg753Cys Single submitter ⚠
- p.Arg753His Single submitter ⚠
- p.Arg773Cys Single submitter ⚠
- p.Arg774Cys Single submitter ⚠
- p.Arg780Gln Single submitter ⚠
- p.Arg780Gly Single submitter ⚠
- p.Arg780Trp Single submitter ⚠
- p.Arg794Gln Single submitter ⚠
- p.Arg820Gln Single submitter ⚠
- p.Arg896Cys Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg982Gly Single submitter ⚠
- p.Arg994Gln Single submitter ⚠
- p.Arg996Gly Single submitter ⚠
- p.Arg998Cys Single submitter ⚠
- p.Arg998His Single submitter ⚠
- p.Asn1004Ser Single submitter ⚠
- p.Asn1063Ser Single submitter ⚠
- p.Asn13Lys Single submitter ⚠
- p.Asn13Ser Single submitter ⚠
- p.Asn396Ser Single submitter ⚠
- p.Asn956Asp Single submitter ⚠
- p.Asn96Ser Single submitter ⚠
- p.Asp142Ala Single submitter ⚠
- p.Asp231Ala Single submitter ⚠
- p.Asp231Asn Single submitter ⚠
- p.Asp301Asn Single submitter
- p.Asp512Asn Single submitter ⚠
- p.Asp549Tyr Single submitter ⚠
- p.Asp551Glu Single submitter ⚠
- p.Asp694Ala Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Asp766His Single submitter ⚠
- p.Asp772Asn Single submitter
- p.Asp840Glu Single submitter ⚠
- p.Asp917Gly Single submitter ⚠
- p.Asp917Tyr Single submitter
- p.Cys101Tyr Single submitter ⚠
- p.Cys856Gly Single submitter ⚠
- p.Gln10Lys Single submitter ⚠
- p.Gln223Glu Single submitter ⚠
- p.Gln533His Single submitter ⚠
- p.Gln754His Single submitter
- p.Gln835Arg Single submitter ⚠
- p.Glu1059Lys Single submitter ⚠
- p.Glu135Gln Single submitter ⚠
- p.Glu255Asp Single submitter ⚠
- p.Glu367Lys Single submitter
- p.Glu416Lys Single submitter ⚠
- p.Glu422Val Single submitter ⚠
- p.Glu530Lys Single submitter ⚠
- p.Glu546Lys Single submitter ⚠
- p.Glu714Gln Single submitter ⚠
- p.Glu714Lys Single submitter
- p.Glu729Gly Single submitter ⚠
- p.Glu751Lys Single submitter ⚠
- p.Glu802Gln Single submitter ⚠
- p.Glu861Lys Single submitter ⚠
- p.Gly1043Ala Single submitter ⚠
- p.Gly1085Asp Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Gly331Ser Single submitter ⚠
- p.Gly332Arg Single submitter ⚠
- p.Gly383Ser Single submitter ⚠
- p.Gly499Ser Single submitter
- p.Gly560Ser Single submitter ⚠
- p.Gly620Ser Single submitter ⚠
- p.Gly933Glu Single submitter ⚠
- p.His12Leu Single submitter ⚠
- p.His208Gln Single submitter ⚠
- p.His504Arg Single submitter ⚠
- p.Ile1098Leu Single submitter ⚠
- p.Ile312Thr Single submitter ⚠
- p.Ile50Val Single submitter ⚠
- p.Ile529Thr Single submitter ⚠
- p.Ile792Val Single submitter ⚠
- p.Ile99Met Single submitter ⚠
- p.Leu281Phe Single submitter ⚠
- p.Leu548Val Single submitter ⚠
- p.Leu685Val Single submitter ⚠
- p.Leu744Pro Single submitter ⚠
- p.Leu901Phe Single submitter ⚠
- p.Lys15Arg Single submitter ⚠
- p.Lys170Gln Single submitter ⚠
- p.Lys712Thr Single submitter ⚠
- p.Lys798Arg Single submitter ⚠
- p.Lys812Asn Single submitter ⚠
- p.Lys905Arg Single submitter ⚠
- p.Lys924Arg Single submitter ⚠
- p.Met124Thr Single submitter ⚠
- p.Met468Ile Single submitter ⚠
- p.Met93Thr Single submitter ⚠
- p.Phe168Ser Single submitter ⚠
- p.Phe172Val Single submitter ⚠
- p.Phe877Ile Single submitter ⚠
- p.Pro1037Ser Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro306Ser Single submitter ⚠
- p.Pro643Leu Single submitter ⚠
- p.Pro950Arg Single submitter ⚠
- p.Pro959Ala Single submitter ⚠
- p.Pro959Thr Single submitter ⚠
- p.Pro960Ser Single submitter ⚠
- p.Pro966Ser Single submitter ⚠
- p.Pro985Leu Single submitter ⚠
- p.Pro995Leu Single submitter ⚠
- p.Ser1023Arg Single submitter ⚠
- p.Ser239Leu Single submitter ⚠
- p.Ser453Arg Single submitter ⚠
- p.Ser514Arg Single submitter ⚠
- p.Ser681Leu Single submitter ⚠
- p.Ser767Trp Single submitter ⚠
- p.Ser853Asn Single submitter ⚠
- p.Ser914Asn Single submitter ⚠
- p.Ser992Arg Single submitter ⚠
- p.Thr434Pro Single submitter ⚠
- p.Thr471Met Single submitter ⚠
- p.Thr641Ala Single submitter ⚠
- p.Thr672Ala Single submitter ⚠
- p.Thr90Met Single submitter ⚠
- p.Trp645Ser Single submitter ⚠
- p.Trp9Arg Single submitter ⚠
- p.Tyr505Cys Single submitter ⚠
- p.Tyr623His Single submitter ⚠
- p.Tyr634Cys Single submitter ⚠
- p.Val1064Met Single submitter ⚠
- p.Val140Ile Single submitter ⚠
- p.Val140Phe Single submitter ⚠
- p.Val244Ala Single submitter ⚠
- p.Val262Leu Single submitter ⚠
- p.Val343Met Single submitter ⚠
- p.Val406Ile Single submitter ⚠
- p.Val460Ala Single submitter ⚠
- p.Val501Ile Single submitter ⚠
- p.Val708Glu Single submitter
- p.Val708Met Single submitter ⚠
- p.Val710Ile Single submitter ⚠
- p.Val762Met Single submitter
- p.Val915Leu Single submitter ⚠
- p.Arg594Gln No assertion criteria Bilateral sensorineural hearing impairment ⚠