MYH14 — 1576 ClinVar variants
All ClinVar germline MYH14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 738 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 117 Conflicting · 169 Benign · 61 Benign/Likely benign · 370 Likely benign · 825 Uncertain significance
Full MYH14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 738
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 45
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MYH14 p.Ala1095Thr Conflicting Single submitter
-
MYH14 p.Ala1343Val
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Ala1345Thr
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Ala1353Val Conflicting Single submitter
-
MYH14 p.Ala1420Val
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Ala1569Ser
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Ala23Val Conflicting Single submitter
-
MYH14 p.Ala387Val
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Ala811Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Ala811Val
Conflicting
Single submitter
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Arg1087Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1135Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1274Gln
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1295Gln
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1313Cys Conflicting Single submitter
-
MYH14 p.Arg1542Gln
Conflicting
Single submitter
MYH14-related disorder
-
MYH14 p.Arg1641His
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1648Lys
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1723His
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1856Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1867Cys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg189Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1953Gln
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg32Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg410His
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg640Gln
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg640Gly
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg767Cys
Conflicting
Single submitter
MYH14-related disorder
-
MYH14 p.Arg955Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg988Cys
Conflicting
Single submitter
MYH14-related disorder
-
MYH14 p.Gln1428Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Glu1635Lys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Glu1681Lys
Conflicting
Single submitter
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Glu787Lys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gly1260Ser
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gly132Ser
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gly384Cys
Conflicting
Single submitter
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Leu542Arg Conflicting Single submitter
-
MYH14 p.Lys1079Asn
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Ser120Leu
Conflicting
Single submitter
MYH14-related disorder
-
MYH14 p.Thr1033Met
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Thr1235Met
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Trp618Gly
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Val1702Ala
Conflicting
Single submitter
hearing loss disorder
-
MYH14 p.Val280Ile
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
Predictors lean, ClinVar uncertain 471
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 471
-
MYH14 p.Ala1023Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Ala1250Val Uncertain significance Multiple submitters
-
MYH14 p.Ala1267Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Ala1401Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Ala1444Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Ala1556Thr
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Ala1629Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Ala422Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Ala631Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1087Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg1164Gln Uncertain significance Multiple submitters
-
MYH14 p.Arg1172Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1305Cys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1325Gln
Uncertain significance
Multiple submitters
hearing loss disorder
- MYH14 p.Arg1436Gln Uncertain significance Multiple submitters
-
MYH14 p.Arg1457Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1478Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1481Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1481His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1524Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1539Leu Uncertain significance Multiple submitters
-
MYH14 p.Arg1565Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1641Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1649Trp Uncertain significance Multiple submitters
- MYH14 p.Arg1667Gln Uncertain significance Multiple submitters
- MYH14 p.Arg1677Cys Uncertain significance Multiple submitters
-
MYH14 p.Arg167His
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Arg1717Gln Uncertain significance Multiple submitters
- MYH14 p.Arg1726Gln Uncertain significance Multiple submitters
-
MYH14 p.Arg1761Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1762Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1768Gln
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1790His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1816Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1835Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg183Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg1850Gln Uncertain significance Multiple submitters
-
MYH14 p.Arg1903Cys
Uncertain significance
Multiple submitters
hearing loss disorder
-
MYH14 p.Arg1959Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg1988Cys Uncertain significance Multiple submitters
-
MYH14 p.Arg1996His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg244Gln Uncertain significance Multiple submitters
-
MYH14 p.Arg336Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg350Gln
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Arg421Gln Uncertain significance Multiple submitters
- MYH14 p.Arg466His Uncertain significance Multiple submitters
- MYH14 p.Arg473Cys Uncertain significance Multiple submitters
- MYH14 p.Arg476Cys Uncertain significance Multiple submitters
- MYH14 p.Arg551Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg597Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg704His Uncertain significance Multiple submitters
- MYH14 p.Arg721Cys Uncertain significance Multiple submitters
- MYH14 p.Arg721His Uncertain significance Multiple submitters
-
MYH14 p.Arg767His
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss
-
MYH14 p.Arg820Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg856Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg93Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg949Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Asn1814Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Asn616Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Asn792Ser Uncertain significance Multiple submitters
- MYH14 p.Asp1769Val Uncertain significance Multiple submitters
-
MYH14 p.Asp541Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Asp696Asn
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gln1134Arg
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gln1198Leu
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gln1323Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Gln1341Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Gln1496Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Gln1605His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Gln1925Glu Uncertain significance Multiple submitters
- MYH14 p.Gln47Leu Uncertain significance Multiple submitters
-
MYH14 p.Glu1160Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu1249Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu1471Gly
Uncertain significance
Multiple submitters
MYH14-related disorder
-
MYH14 p.Glu1517Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu1528Lys
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Glu179Lys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Glu1886Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Glu1973Lys Uncertain significance Multiple submitters
-
MYH14 p.Glu243Gln
Uncertain significance
Multiple submitters
Meniere disease
- MYH14 p.Glu61Gln Uncertain significance Multiple submitters
-
MYH14 p.Glu977Gln
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Gly1957Ser Uncertain significance Multiple submitters
-
MYH14 p.Gly1989Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Gly2020Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Gly586Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.His1634Gln Uncertain significance Multiple submitters
-
MYH14 p.His2034Pro
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Ile284Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Ile549Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Ile794Asn Uncertain significance Multiple submitters
-
MYH14 p.Leu1294Val
Uncertain significance
Multiple submitters
hearing loss disorder
- MYH14 p.Leu1855Arg Uncertain significance Multiple submitters
- MYH14 p.Leu1877Phe Uncertain significance Multiple submitters
- MYH14 p.Leu757Ile Uncertain significance Multiple submitters
-
MYH14 p.Leu89Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Lys1194Glu Uncertain significance Multiple submitters
-
MYH14 p.Lys1871Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Pro2025Leu Uncertain significance Multiple submitters
- MYH14 p.Pro251His Uncertain significance Multiple submitters
-
MYH14 p.Pro544Leu
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Pro552Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Pro750Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Pro901Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Ser1757Leu Uncertain significance Multiple submitters
-
MYH14 p.Ser2024Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Ser2030Thr Uncertain significance Multiple submitters
- MYH14 p.Thr1245Ile Uncertain significance Multiple submitters
-
MYH14 p.Thr1386Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Thr1724Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Thr197Ile Uncertain significance Multiple submitters
-
MYH14 p.Thr1997Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Thr906Met
Uncertain significance
Multiple submitters
MYH14-related disorder
-
MYH14 p.Trp462Gly
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Tyr884Cys Uncertain significance Multiple submitters
-
MYH14 p.Val218Met
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Val4Met
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Val630Ile
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Ala1092Gly Uncertain significance Single submitter
- MYH14 p.Ala1095Val Uncertain significance Single submitter
-
MYH14 p.Ala1153Thr
Uncertain significance
Single submitter
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Ala1155Gly Uncertain significance Single submitter
- MYH14 p.Ala1155Val Uncertain significance Single submitter
- MYH14 p.Ala1157Val Uncertain significance Single submitter
- MYH14 p.Ala1176Val Uncertain significance Single submitter
- MYH14 p.Ala1181Val Uncertain significance Single submitter
- MYH14 p.Ala1191Ser Uncertain significance Single submitter
- MYH14 p.Ala1195Glu Uncertain significance Single submitter
- MYH14 p.Ala1195Val Uncertain significance Single submitter
-
MYH14 p.Ala1222Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Ala1267Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Ala1286Asp Uncertain significance Single submitter
- MYH14 p.Ala1286Val Uncertain significance Single submitter
-
MYH14 p.Ala1289Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Ala1357Thr Uncertain significance Single submitter
- MYH14 p.Ala1388Glu Uncertain significance Single submitter
- MYH14 p.Ala1391Thr Uncertain significance Single submitter
- MYH14 p.Ala13Val Uncertain significance Single submitter
- MYH14 p.Ala1455Thr Uncertain significance Single submitter
- MYH14 p.Ala1532Ser Uncertain significance Single submitter
- MYH14 p.Ala1543Thr Uncertain significance Single submitter
-
MYH14 p.Ala1549Thr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Ala1619Gly Uncertain significance Single submitter
- MYH14 p.Ala1676Val Uncertain significance Single submitter
- MYH14 p.Ala1745Thr Uncertain significance Single submitter
- MYH14 p.Ala1756Thr Uncertain significance Single submitter
- MYH14 p.Ala176Val Uncertain significance Single submitter
- MYH14 p.Ala1864Val Uncertain significance Single submitter
- MYH14 p.Ala1876Thr Uncertain significance Single submitter
Predictors split 221
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 221
- MYH14 p.Ala1391Asp Uncertain significance Multiple submitters
-
MYH14 p.Ala479Asp
Uncertain significance
Multiple submitters
MYH14-related disorder
-
MYH14 p.Ala615Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1108Cys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1135Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1145Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1145Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg1189Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1189His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1199His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1295Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1311Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1314Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1325Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1363Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1363His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1407Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1419Trp Benign/Likely benign Multiple submitters
-
MYH14 p.Arg1422Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1437His Uncertain significance Multiple submitters
- MYH14 p.Arg1452Trp Uncertain significance Multiple submitters
- MYH14 p.Arg1478Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg1480Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1480His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1482Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg1531Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1537Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1542Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg1562Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg1593Gln
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg163Gln
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Arg1649Gln
Uncertain significance
Multiple submitters
Meniere disease
-
MYH14 p.Arg1670Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1759His Uncertain significance Multiple submitters
-
MYH14 p.Arg1795Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1816His
Benign/Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1835His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1845Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1845Trp Benign Multiple submitters
-
MYH14 p.Arg1858Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1869His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg1942Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Arg1958Cys Uncertain significance Multiple submitters
- MYH14 p.Arg336Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg350Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg432Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg461Cys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg461His Uncertain significance Multiple submitters
- MYH14 p.Arg476His Likely benign Multiple submitters
-
MYH14 p.Arg476Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Arg709Gln
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg88Trp Uncertain significance Multiple submitters
-
MYH14 p.Arg894Gln
Uncertain significance
Multiple submitters
MYH14-related disorder
-
MYH14 p.Arg931His
Benign/Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg947His Uncertain significance Multiple submitters
- MYH14 p.Arg974Cys Uncertain significance Multiple submitters
- MYH14 p.Arg974His Likely benign Multiple submitters
- MYH14 p.Arg98His Uncertain significance Multiple submitters
-
MYH14 p.Asn1934Lys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Asp1159Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Asp1618Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Asp612Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Gln406Arg Uncertain significance Multiple submitters
-
MYH14 p.Glu1188Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu1204Lys
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Glu1468Gly Uncertain significance Multiple submitters
- MYH14 p.Glu1681Gly Uncertain significance Multiple submitters
-
MYH14 p.Glu1801Lys
Uncertain significance
Multiple submitters
MYH14-related disorder
-
MYH14 p.Glu330Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu77Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu79Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Glu910Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Gly1405Trp Uncertain significance Multiple submitters
-
MYH14 p.Gly1989Arg
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Gly341Arg
Uncertain significance
Multiple submitters
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Ile289Thr
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Leu714Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Met161Ile
Benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Met161Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Pro552Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MYH14 p.Ser732Arg Uncertain significance Multiple submitters
-
MYH14 p.Trp1280Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYH14 p.Tyr434Cys
Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Ala176Thr
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Ala181Ser Uncertain significance Single submitter
- MYH14 p.Ala216Thr Uncertain significance Single submitter
- MYH14 p.Ala216Val Uncertain significance Single submitter
-
MYH14 p.Ala447Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Ala447Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Ala454Thr Uncertain significance Single submitter
-
MYH14 p.Ala488Ser
Uncertain significance
Single submitter
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- MYH14 p.Ala69Glu Uncertain significance Single submitter
- MYH14 p.Arg1024Gln Uncertain significance Single submitter
- MYH14 p.Arg1065His Conflicting Single submitter
- MYH14 p.Arg1100Cys Uncertain significance Single submitter
-
MYH14 p.Arg1102Trp
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1108His
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1116Gln Likely benign Single submitter
- MYH14 p.Arg1140Trp Uncertain significance Single submitter
- MYH14 p.Arg1189Leu Uncertain significance Single submitter
- MYH14 p.Arg1200Gln Uncertain significance Single submitter
- MYH14 p.Arg1227Gln Uncertain significance Single submitter
-
MYH14 p.Arg1258His
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1333Gly Likely benign Single submitter
-
MYH14 p.Arg1395Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1407His
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1422His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1436Trp
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1453Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1457Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1465Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1475Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1498Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1509His Conflicting Single submitter
-
MYH14 p.Arg1529His
Conflicting
Single submitter
Inborn genetic diseases
-
MYH14 p.Arg1557Cys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1557His
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1568Trp Uncertain significance Single submitter
- MYH14 p.Arg1663Trp Uncertain significance Single submitter
- MYH14 p.Arg1670His Uncertain significance Single submitter
- MYH14 p.Arg1677His Uncertain significance Single submitter
- MYH14 p.Arg1706His Uncertain significance Single submitter
- MYH14 p.Arg1723Cys Uncertain significance Single submitter
- MYH14 p.Arg1739Cys Uncertain significance Single submitter
- MYH14 p.Arg1739Ser Uncertain significance Single submitter
- MYH14 p.Arg1749Trp Uncertain significance Single submitter
- MYH14 p.Arg1759Ser Uncertain significance Single submitter
- MYH14 p.Arg1768Gly Uncertain significance Single submitter
-
MYH14 p.Arg1795His
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
-
MYH14 p.Arg1795Leu
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1856Trp Conflicting Single submitter
-
MYH14 p.Arg1858His
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1921Ser Uncertain significance Single submitter
- MYH14 p.Arg1958His Uncertain significance Single submitter
-
MYH14 p.Arg1959Gln
Conflicting
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1977His Uncertain significance Single submitter
-
MYH14 p.Arg1987Gln
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 4A
- MYH14 p.Arg1988Leu Uncertain significance Single submitter
- MYH14 p.Arg1988Ser Uncertain significance Single submitter
-
MYH14 p.Arg1996Cys
Uncertain significance
Single submitter
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
-
MYH14 p.Arg1996Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Arg1999Ser Uncertain significance Single submitter
- MYH14 p.Arg361Trp Uncertain significance Single submitter
- MYH14 p.Arg375Gln Uncertain significance Single submitter
- MYH14 p.Arg410Cys Uncertain significance Single submitter
-
MYH14 p.Arg528His
Uncertain significance
Single submitter
Inborn genetic diseases
- MYH14 p.Arg594Ser Uncertain significance Single submitter
- MYH14 p.Arg640Trp Conflicting Single submitter
- MYH14 p.Arg879Gln Uncertain significance Single submitter
- MYH14 p.Arg879Trp Uncertain significance Single submitter
All MYH14 variants
Pathogenic 17
- p.Arg974Leu Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- p.Arg1200fs Single submitter
- p.Arg1818fs Single submitter
- p.Arg421Ter Single submitter
- p.Arg840Ter Single submitter
- p.Asn1052fs Single submitter
- p.Gln1464Ter Single submitter
- p.Gln2036fs Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Gln512Ter Single submitter
- p.Leu1101fs Single submitter
- p.Leu1241fs Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Leu327fs Single submitter
- p.Tyr456Ter Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Val435fs Single submitter
- p.Arg767Ser No assertion criteria autosomal dominant nonsyndromic hearing loss 4A
- p.Ser7Ter No assertion criteria autosomal dominant nonsyndromic hearing loss 4A
- p.Thr1997fs No assertion criteria autosomal dominant nonsyndromic hearing loss 4A
Pathogenic/Likely pathogenic 1
- c.590+1G>A Multiple submitters
Likely pathogenic 16
- c.1831-1G>A Single submitter nonsyndromic genetic hearing loss
- c.2424+1G>A Single submitter
- c.3171+1G>T Single submitter
- c.4752+1G>A Single submitter
- c.591-2A>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.693+1G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1537fs Single submitter
- p.Asp191His Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Asp191Tyr Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Cys196Phe Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Glu1471Ala Single submitter ⚠
- p.Gly652fs Single submitter
- p.Leu1045fs Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1630fs Single submitter
- p.Phe782fs No assertion criteria autosomal dominant nonsyndromic hearing loss 4A
- p.Val1581fs No assertion criteria MYH14-related disorder
Conflicting classifications of pathogenicity 117
- c.1114+13C>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.1115-4C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.1210+12G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.1329+7G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.2233-13C>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.3467+9T>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.4539+10C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.5127+12C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.5469+13del Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.563-5T>C Single submitter
- c.5961-10C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1095Thr Single submitter ⚠
- p.Ala1195= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1343Val Single submitter Inborn genetic diseases ⚠
- p.Ala1345Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1353Val Single submitter ⚠
- p.Ala1420Val Single submitter Inborn genetic diseases ⚠
- p.Ala1569Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1591= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala176Thr Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala325= Single submitter
- p.Ala387Val Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Ala600= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala811Ser Single submitter Inborn genetic diseases ⚠
- p.Ala811Val Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Arg1065His Single submitter ⚠
- p.Arg1087Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1102Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1135Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1172= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1274Gln Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1284Trp Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1295Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1313Cys Single submitter ⚠
- p.Arg1407His Single submitter Inborn genetic diseases ⚠
- p.Arg1436Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1465Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1509His Single submitter ⚠
- p.Arg1529Cys Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1529His Single submitter Inborn genetic diseases ⚠
- p.Arg1542Gln Single submitter MYH14-related disorder ⚠
- p.Arg1557Cys Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1557His Single submitter Inborn genetic diseases ⚠
- p.Arg1565= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1641His Single submitter Inborn genetic diseases ⚠
- p.Arg1648Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1677Leu Single submitter Inborn genetic diseases
- p.Arg1723His Single submitter Inborn genetic diseases ⚠
- p.Arg1768Trp Single submitter
- p.Arg1795His Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1795Leu Single submitter Inborn genetic diseases ⚠
- p.Arg1818Cys Single submitter
- p.Arg1856Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1856Trp Single submitter ⚠
- p.Arg1858His Single submitter Inborn genetic diseases ⚠
- p.Arg1867Cys Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg189Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1953Gln Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1959Gln Single submitter Inborn genetic diseases ⚠
- p.Arg32Cys Single submitter Inborn genetic diseases ⚠
- p.Arg410His Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg473= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg640Gln Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg640Gly Single submitter Inborn genetic diseases ⚠
- p.Arg640Trp Single submitter ⚠
- p.Arg767Cys Single submitter MYH14-related disorder ⚠
- p.Arg867Cys Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg955Gln Single submitter Inborn genetic diseases ⚠
- p.Arg988Cys Single submitter MYH14-related disorder ⚠
- p.Asp1201= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Asp1580= Single submitter
- p.Asp191Asn Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Gln1428Arg Single submitter Inborn genetic diseases ⚠
- p.Gln187Arg Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Glu1384= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Glu1433Lys Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Glu1460Lys Single submitter ⚠
- p.Glu1635Lys Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Glu1681Lys Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Glu787Lys Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Glu991Lys Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gly1260Ser Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gly132Ser Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gly198= Single submitter
- p.Gly384Cys Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Gly415Glu Single submitter Inborn genetic diseases
- p.Ile274Val Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ile777= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1143= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1315= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1609= Single submitter
- p.Leu540Phe Single submitter ⚠
- p.Leu542Arg Single submitter ⚠
- p.Lys1079Asn Single submitter Inborn genetic diseases ⚠
- p.Phe270= Single submitter
- p.Pro231= Single submitter
- p.Pro342= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ser120Leu Single submitter MYH14-related disorder ⚠
- p.Ser131= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1369= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1432= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1577= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1584= Single submitter
- p.Ser345Cys Single submitter Inborn genetic diseases ⚠
- p.Ser665Leu Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ser996= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Thr1033Met Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Thr1216= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Thr1235Met Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Thr205= Single submitter
- p.Thr356Met Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Trp618Gly Single submitter Inborn genetic diseases ⚠
- p.Val1702Ala Single submitter hearing loss disorder ⚠
- p.Val1916= Single submitter
- p.Val280Ile Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Val611= Single submitter autosomal dominant nonsyndromic hearing loss 4A
Benign 169
- c.1114+13C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.1115-71G>A Multiple submitters
- c.1210+58C>T Multiple submitters
- c.1329+118C>T Multiple submitters
- c.1329+16G>A Multiple submitters
- c.1329+40C>T Multiple submitters
- c.1483-10G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.1483-96A>C Multiple submitters
- c.1483-97G>T Multiple submitters
- c.1657-169C>T Multiple submitters
- c.1657-41G>T Multiple submitters
- c.1830+77G>A Multiple submitters
- c.1831-110A>T Multiple submitters
- c.2232+86T>C Multiple submitters
- c.2354+157G>A Multiple submitters
- c.2354+47C>T Multiple submitters
- c.2355-14C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.2355-17C>T Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.2424+95C>T Multiple submitters
- c.2586-166C>T Multiple submitters
- c.2694+30T>C Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.2695-90G>A Multiple submitters
- c.2827-96T>C Multiple submitters
- c.2827-9A>C Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.3033+11T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.3033+34C>T Multiple submitters
- c.3034-85G>A Multiple submitters
- c.3296-209T>C Multiple submitters
- c.3296-75A>G Multiple submitters
- c.3468-97C>T Multiple submitters
- c.3680+32C>G Multiple submitters
- c.3680+40A>G Multiple submitters
- c.3680+9C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.3681-26A>T Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.3681-27C>G Multiple submitters
- c.3825+28G>A Multiple submitters
- c.4032+52G>C Multiple submitters
- c.406-77G>A Multiple submitters
- c.406-79C>T Multiple submitters
- c.4291-234A>G Multiple submitters
- c.4539+287A>G Multiple submitters
- c.4540-237G>A Multiple submitters
- c.4752+16G>A Multiple submitters
- c.4753-9C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.5127+175T>C Multiple submitters
- c.5257-138C>A Multiple submitters
- c.5345+58G>T Multiple submitters
- c.5469+104G>A Multiple submitters
- c.5469+16C>T Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.5469+187A>G Multiple submitters
- c.562+46G>A Multiple submitters
- c.563-21C>G Multiple submitters
- c.5678+12C>T Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.5788-294G>A Multiple submitters
- c.5788-41A>G Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.591-45T>C Multiple submitters
- c.693+111C>T Multiple submitters
- c.694-20G>A Multiple submitters
- c.694-224G>A Multiple submitters
- c.694-232A>G Multiple submitters
- c.694-292G>C Multiple submitters
- c.694-99C>T Multiple submitters
- c.717+234A>G Multiple submitters
- c.717+251A>G Multiple submitters
- c.717+76T>C Multiple submitters
- c.810+21G>A Multiple submitters
- c.875-254G>T Multiple submitters
- c.974-163C>T Multiple submitters
- c.*122A>C Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.*216T>G Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1250Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1532= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1956= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ala219= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1761= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1845Trp Multiple submitters ⚠
- p.Arg735= Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- p.Arg947= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Asn1221= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Gly1778= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Gly585= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Gly681Arg Multiple submitters
- p.Ile158= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1006= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1822= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu2004= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Met161Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Phe383= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Pro31Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Pro342Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Pro750= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1810= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1843= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ser1971= Multiple submitters
- p.Val1581Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Val630= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.1115-250dup Single submitter
- c.1210+161_1210+164del Single submitter
- c.1210+162_1210+164del Single submitter
- c.1210+163_1210+164del Single submitter
- c.1210+248A>G Single submitter
- c.1329+228A>T Single submitter
- c.1483-91TCTCTGTCCCCTGTCTCTGGG[3] Single submitter
- c.1656+199C>T Single submitter
- c.1657-225_1657-224insACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGTC Single submitter
- c.1830+274A>C Single submitter
- c.1945+290G>T Single submitter
- c.2232+191A>G Single submitter
- c.2233-284A>C Single submitter
- c.2355-268T>C Single submitter
- c.2355-296G>A Single submitter
- c.2424+108GT[5] Single submitter
- c.2424+123C>T Single submitter
- c.2424+150A>G Single submitter
- c.2424+175T>C Single submitter
- c.2424+34GT[7] Single submitter
- c.2424+34GT[8] Single submitter
- c.2424+47_2424+48dup Single submitter
- c.2424+49_2424+60del Single submitter
- c.2424+68_2424+69insAG Single submitter
- c.2585+126G>C Single submitter
- c.2585+127T>C Single submitter
- c.2586-246G>A Single submitter
- c.2694+211C>T Single submitter
- c.2694+251C>A Single submitter
- c.2695-17_2695-16del Single submitter
- c.2827-117dup Single submitter
- c.2827-232T>C Single submitter
- c.3295+160T>C Single submitter
- c.3295+179C>T Single submitter
- c.3468-19C>T Single submitter
- c.3681-115del Single submitter
- c.3825+220A>G Single submitter
- c.3826-150del Single submitter
- c.4032+240C>T Single submitter
- c.4032+259dup Single submitter
- c.4032+274G>A Single submitter
- c.4033-208C>T Single submitter
- c.4291-340G>A Single submitter
- c.4752+222A>G Single submitter
- c.4965+278C>G Single submitter
- c.5127+260G>T Single submitter
- c.5128-254G>A Single submitter
- c.5256+127_5256+172del Single submitter
- c.5256+127del Single submitter
- c.5256+233T>G Single submitter
- c.563-192C>T Single submitter
- c.563-6del Single submitter
- c.5678+267_5678+268dup Single submitter
- c.5678+268del Single submitter
- c.5678+268dup Single submitter
- c.5788-18C>A Single submitter
- c.693+329C>T Single submitter
- c.718-286C>T Single submitter
- c.811-106del Single submitter
- c.811-247A>G Single submitter
- c.875-267AG[10] Single submitter
- c.973+233C>T Single submitter
- c.973+333G>A Single submitter
- c.973+374C>T Single submitter
- c.974-195AG[4] Single submitter
- c.974-196T>G Single submitter
- c.974-197dup Single submitter
- c.974-200_974-199insG Single submitter
- c.-13C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*302G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*389C>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1723= Single submitter
- p.Asn1984= Single submitter
Benign/Likely benign 61
- c.1210+11C>T Multiple submitters
- c.1329+15C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.1330-17T>C Multiple submitters
- c.1482+18G>A Multiple submitters
- c.1830+16G>A Multiple submitters
- c.2586-19C>G Multiple submitters
- c.3172-12T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.3468-3C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.4033-15G>A Multiple submitters
- c.405+12C>T Multiple submitters
- c.4138-13C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.4138-18C>T Multiple submitters
- c.4291-20C>A Multiple submitters
- c.4753-5A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- c.5127+10G>A Multiple submitters
- c.5257-6_5257-4del Multiple submitters
- c.563-17C>A Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.5679-16T>G Multiple submitters
- c.5960+8C>T Multiple submitters
- c.693+10C>T Multiple submitters
- c.693+12C>T Multiple submitters
- c.718-6C>T Multiple submitters
- c.810+14_810+38del Multiple submitters
- p.Ala1067= Multiple submitters
- p.Ala1179= Multiple submitters
- p.Ala1701= Multiple submitters
- p.Arg11= Multiple submitters
- p.Arg1419Trp Multiple submitters ⚠
- p.Arg1539= Multiple submitters
- p.Arg1562Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1816His Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1895Cys Multiple submitters
- p.Arg1988= Multiple submitters
- p.Arg894= Multiple submitters
- p.Arg931His Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Asn402Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Asp2011Ala Multiple submitters
- p.Asp648= Multiple submitters
- p.Glu1950= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Gly1695Arg Multiple submitters
- p.Gly64= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ile276Val Multiple submitters
- p.Leu1027= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1101= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1743= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1926= Multiple submitters
- p.Leu408= Multiple submitters
- p.Leu540= Multiple submitters
- p.Leu778= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Lys12= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Lys921= Multiple submitters
- p.Pro555= Multiple submitters
- p.Ser1365Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ser220= Multiple submitters
- p.Ser378Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Thr136= Multiple submitters
- p.Thr1997= Multiple submitters
- p.Thr417= Multiple submitters
- p.Thr425= Multiple submitters
- p.Val1291Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Val1473Met Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
Likely benign 370
Showing the top 300 by review status; the full set is in the sitemap.
- c.1211-53C>T Multiple submitters
- c.2044+37G>A Multiple submitters
- c.2354+36G>A Multiple submitters
- c.2355-28C>G Multiple submitters
- c.2424+28G>T Multiple submitters
- c.2424+50G>T Multiple submitters
- c.2826+10C>G Multiple submitters
- c.2826+20del Multiple submitters
- c.3034-32G>T Multiple submitters
- c.3172-36C>T Multiple submitters
- c.3296-13C>T Multiple submitters
- c.3296-38C>T Multiple submitters
- c.3825+14G>A Multiple submitters
- c.4032+13G>A Multiple submitters
- c.4033-119G>A Multiple submitters
- c.405+18G>C Multiple submitters
- c.406-5T>C Multiple submitters
- c.4539+14G>A Multiple submitters
- c.5128-12C>T Multiple submitters
- c.5256+11G>C Multiple submitters
- c.5345+16G>A Multiple submitters
- c.5345+7G>A Multiple submitters
- c.5469+17G>A Multiple submitters
- c.5678+20A>G Multiple submitters
- c.590+13G>A Multiple submitters
- c.5960+205G>A Multiple submitters
- c.811-125G>A Multiple submitters
- c.875-159G>C Multiple submitters
- c.-3-69G>A Multiple submitters
- c.*15C>T Multiple submitters
- p.Ala1023= Multiple submitters
- p.Ala1250= Multiple submitters
- p.Ala1273= Multiple submitters
- p.Ala1420= Multiple submitters
- p.Ala1459= Multiple submitters
- p.Ala1947= Multiple submitters
- p.Ala882Val Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Arg32= Multiple submitters
- p.Arg476His Multiple submitters ⚠
- p.Arg974His Multiple submitters ⚠
- p.Asn385= Multiple submitters
- p.Asn616= Multiple submitters
- p.Asn629= Multiple submitters
- p.Asp109= Multiple submitters
- p.Asp1159= Multiple submitters
- p.Asp1489= Multiple submitters
- p.Glu1265= Multiple submitters
- p.Glu1918Asp Multiple submitters
- p.Glu358= Multiple submitters
- p.His1259= Multiple submitters
- p.His168= Multiple submitters
- p.His173= Multiple submitters
- p.His217= Multiple submitters
- p.Ile848= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1487= Multiple submitters
- p.Leu374= Multiple submitters
- p.Leu536= Multiple submitters
- p.Leu542= Multiple submitters
- p.Lys1679= Multiple submitters
- p.Lys1707= Multiple submitters
- p.Phe519= Multiple submitters
- p.Pro2032= Multiple submitters
- p.Pro664= Multiple submitters
- p.Ser1736Asn Multiple submitters
- p.Ser665= Multiple submitters
- p.Tyr434Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Tyr607= Multiple submitters
- p.Val1522Ile Multiple submitters
- c.1114+288C>G Single submitter
- c.1115-3C>T Single submitter
- c.1115-9C>T Single submitter
- c.1210+12G>C Single submitter
- c.1210+164dup Single submitter
- c.1211-11C>T Single submitter
- c.1211-261G>C Single submitter
- c.1329+9G>A Single submitter
- c.1330-7C>T Single submitter
- c.1482+19A>C Single submitter
- c.1483-20C>T Single submitter
- c.1656+13C>A Single submitter
- c.1656+294_1656+295del Single submitter
- c.1656+299A>G Single submitter
- c.1831-104del Single submitter
- c.1831-10C>G Single submitter
- c.1831-11A>G Single submitter
- c.1831-324G>A Single submitter
- c.1945+18C>T Single submitter
- c.1945+19C>A Single submitter
- c.1945+19C>T Single submitter
- c.1946-237del Single submitter
- c.2045-6T>C Single submitter
- c.2232+9C>T Single submitter
- c.2354+13G>A Single submitter
- c.2354+16G>A Single submitter
- c.2355-10C>A Single submitter
- c.2424+131C>T Single submitter
- c.2424+132GT[3] Single submitter
- c.2424+133T>C Single submitter
- c.2424+175_2424+188del Single submitter
- c.2424+47_2424+56del Single submitter
- c.2424+48_2424+49insCGTGCATGAGTGTGCG Single submitter
- c.2425-17del Single submitter
- c.2425-18C>T Single submitter
- c.2425-28G>A Single submitter
- c.2425-44C>T Single submitter
- c.2425-9C>A Single submitter
- c.2585+12C>T Single submitter
- c.2585+13G>A Single submitter
- c.2585+18C>G Single submitter
- c.2585+312C>T Single submitter
- c.2586-12T>C Single submitter
- c.2586-171G>A Single submitter
- c.2694+15G>A Single submitter
- c.2695-19C>T Single submitter
- c.2695-37T>C Single submitter
- c.2695-5C>T Single submitter
- c.2826+157C>G Single submitter
- c.3295+10C>T Single submitter
- c.3295+11G>A Single submitter
- c.3296-11C>T Single submitter
- c.3467+15G>A Single submitter
- c.3467+302G>A Single submitter
- c.3468-5C>T Single submitter
- c.3680+10G>A Single submitter
- c.3680+134C>T Single submitter
- c.3680+20C>T Single submitter
- c.3825+13A>T Single submitter
- c.3825+14G>C Single submitter
- c.3825+18G>A Single submitter
- c.3825+7T>G Single submitter
- c.3826-10C>G Single submitter
- c.3826-150dup Single submitter
- c.3826-298T>C Single submitter
- c.3826-6C>T Single submitter
- c.4032+199C>T Single submitter
- c.4033-7C>T Single submitter
- c.405+12C>G Single submitter
- c.405+23del Single submitter
- c.405+23dup Single submitter
- c.406-14C>G Single submitter
- c.406-18C>T Single submitter
- c.406-313C>T Single submitter
- c.4137+16del Single submitter
- c.4137+19C>T Single submitter
- c.4137+20G>A Single submitter
- c.4137+33C>T Single submitter
- c.4137+8T>G Single submitter
- c.4138-4A>G Single submitter
- c.4290+108A>G Single submitter
- c.4290+14C>T Single submitter
- c.4290+7A>C Single submitter
- c.4291-171G>A Single submitter
- c.4291-9T>C Single submitter
- c.4539+40T>C Single submitter
- c.4540-19A>G Single submitter
- c.4752+12C>T Single submitter
- c.4752+15C>T Single submitter
- c.4752+23G>A Single submitter
- c.4753-7C>T Single submitter
- c.4965+103C>G Single submitter
- c.4965+233G>A Single submitter
- c.5127+19T>G Single submitter
- c.5127+272_5127+273dup Single submitter
- c.5127+9C>T Single submitter
- c.5128-11G>A Single submitter
- c.5128-18C>G Single submitter
- c.5128-4C>T Single submitter
- c.5256+136G>A Single submitter
- c.5257-103A>G Single submitter
- c.5257-11C>T Single submitter
- c.5257-286T>C Single submitter
- c.5257-7A>C Single submitter
- c.5346-18G>A Single submitter
- c.5469+12T>A Single submitter
- c.5469+179C>T Single submitter
- c.5469+18C>T Single submitter
- c.5469+7G>A Single submitter
- c.562+250G>T Single submitter
- c.563-177C>T Single submitter
- c.5678+69G>C Single submitter
- c.5679-8C>T Single submitter
- c.5788-17C>A Single submitter
- c.5788-215C>T Single submitter
- c.5788-6A>G Single submitter
- c.591-13G>A Single submitter
- c.591-17C>T Single submitter
- c.591-6C>T Single submitter
- c.5960+16G>A Single submitter
- c.5961-14T>C Single submitter
- c.5961-15C>T Single submitter
- c.5961-17G>A Single submitter
- c.693+13G>A Single submitter
- c.693+167del Single submitter
- c.693+6C>T Single submitter
- c.718-291C>T Single submitter
- c.718-4G>A Single submitter
- c.810+14G>T Single submitter
- c.811-20C>T Single submitter
- c.811-251G>A Single submitter
- c.973+241C>T Single submitter
- c.973+268G>A Single submitter
- c.974-107C>G Single submitter
- c.974-18C>T Single submitter
- c.974-289A>G Single submitter
- c.974-7C>T Single submitter
- c.-3-209C>A Single submitter
- c.-3-271G>A Single submitter
- c.*301C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*368C>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*427T>C Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*81A>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*86G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala107= Single submitter
- p.Ala111= Single submitter
- p.Ala1279= Single submitter
- p.Ala1286= Single submitter
- p.Ala1289= Single submitter
- p.Ala13= Single submitter
- p.Ala1334Val Single submitter
- p.Ala1337= Single submitter
- p.Ala1442= Single submitter
- p.Ala1615= Single submitter
- p.Ala1616= Single submitter
- p.Ala1692= Single submitter
- p.Ala1694= Single submitter
- p.Ala1755= Single submitter
- p.Ala1756= Single submitter
- p.Ala2014Thr Single submitter Inborn genetic diseases
- p.Ala2033= Single submitter
- p.Ala23= Single submitter
- p.Ala249= Single submitter
- p.Ala488= Single submitter
- p.Ala68= Single submitter
- p.Ala78= Single submitter
- p.Ala860= Single submitter
- p.Ala863= Single submitter
- p.Ala882= Single submitter
- p.Ala964= Single submitter
- p.Arg1116Gln Single submitter ⚠
- p.Arg1210= Single submitter
- p.Arg1230= Single submitter
- p.Arg1325= Single submitter
- p.Arg1333Gly Single submitter ⚠
- p.Arg1670= Single submitter
- p.Arg1734= Single submitter
- p.Arg1790= Single submitter
- p.Arg1795= Single submitter
- p.Arg1920= Single submitter
- p.Arg361Gln Single submitter
- p.Arg551= Single submitter
- p.Arg783= Single submitter
- p.Arg820= Single submitter
- p.Arg88Gln Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg907= Single submitter
- p.Arg955= Single submitter
- p.Asn117= Single submitter
- p.Asn1355= Single submitter
- p.Asn1600= Single submitter
- p.Asn1600Ser Single submitter
- p.Asn266= Single submitter
- p.Asn507= Single submitter
- p.Asn817= Single submitter
- p.Asp1050Gly Single submitter
- p.Asp1159Glu Single submitter Inborn genetic diseases
- p.Asp1928= Single submitter
- p.Asp696= Single submitter
- p.Asp841= Single submitter
- p.Gln1851= Single submitter
- p.Gln1943= Single submitter
- p.Gln511= Single submitter
- p.Glu1110= Single submitter
- p.Glu1212= Single submitter
- p.Glu1471= Single submitter
- p.Glu1538= Single submitter
- p.Glu1589= Single submitter
- p.Glu1608= Single submitter
- p.Glu1714= Single submitter
- p.Glu1946= Single submitter
- p.Glu525= Single submitter
- p.Glu550= Single submitter
- p.Glu583= Single submitter
- p.Glu66= Single submitter
- p.Gly1120= Single submitter
- p.Gly1203= Single submitter
- p.Gly1329= Single submitter
- p.Gly1352= Single submitter
- p.Gly1742= Single submitter
- p.Gly2007= Single submitter
- p.Gly286= Single submitter
- p.Gly700= Single submitter
- p.Gly797= Single submitter
- p.Gly990= Single submitter
- p.His1248= Single submitter
- p.His1376= Single submitter
- p.His367= Single submitter
- p.His741= Single submitter
- p.Ile1247Val Single submitter
- p.Ile531= Single submitter
- p.Ile546= Single submitter
- p.Ile685= Single submitter
Uncertain significance 825
Showing the top 300 by review status; the full set is in the sitemap.
- c.4966-2A>G Multiple submitters
- c.5345+6T>C Multiple submitters
- c.5787+5G>T Multiple submitters
- c.5960+4T>C Multiple submitters
- c.-3-6C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1023Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1250Val Multiple submitters ⚠
- p.Ala1267Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala1391Asp Multiple submitters ⚠
- p.Ala1401Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1444Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1556Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Ala1629Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala422Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala479Asp Multiple submitters MYH14-related disorder ⚠
- p.Ala615Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala631Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1087Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1108Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1135Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1145Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1145Trp Multiple submitters ⚠
- p.Arg1164Gln Multiple submitters ⚠
- p.Arg1172Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1189Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1189His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1199Cys Multiple submitters Inborn genetic diseases
- p.Arg1199His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1258Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Arg1274Trp Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- p.Arg1295Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1305Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1311Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1314Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1325Gln Multiple submitters hearing loss disorder ⚠
- p.Arg1325Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1363Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1363His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1407Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1422Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1436Gln Multiple submitters ⚠
- p.Arg1437His Multiple submitters ⚠
- p.Arg1452Trp Multiple submitters ⚠
- p.Arg1457Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1478Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1478Trp Multiple submitters ⚠
- p.Arg1480Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1480His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1481Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1481His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1482Trp Multiple submitters ⚠
- p.Arg1509Cys Multiple submitters Inborn genetic diseases
- p.Arg1524Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1531Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1537Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1539Leu Multiple submitters ⚠
- p.Arg1542Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1562Trp Multiple submitters ⚠
- p.Arg1565Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1593Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg163Gln Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Arg1641Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1649Gln Multiple submitters Meniere disease ⚠
- p.Arg1649Trp Multiple submitters ⚠
- p.Arg1667Gln Multiple submitters ⚠
- p.Arg1670Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg1677Cys Multiple submitters ⚠
- p.Arg167His Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Arg1717Gln Multiple submitters ⚠
- p.Arg1726Gln Multiple submitters ⚠
- p.Arg1726Trp Multiple submitters
- p.Arg1759His Multiple submitters ⚠
- p.Arg1761Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1761Trp Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- p.Arg1762Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1762Trp Multiple submitters Inborn genetic diseases
- p.Arg1768Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1790His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1795Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1816Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1835Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1835His Multiple submitters Inborn genetic diseases ⚠
- p.Arg183Gln Multiple submitters
- p.Arg183Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1845Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1850Gln Multiple submitters ⚠
- p.Arg1850Trp Multiple submitters Inborn genetic diseases
- p.Arg1858Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1869His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1903Cys Multiple submitters hearing loss disorder ⚠
- p.Arg1908Gln Multiple submitters Inborn genetic diseases
- p.Arg1920Trp Multiple submitters Inborn genetic diseases
- p.Arg1942Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1953Trp Multiple submitters Inborn genetic diseases
- p.Arg1958Cys Multiple submitters ⚠
- p.Arg1959Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg1987Ter Multiple submitters
- p.Arg1988Cys Multiple submitters ⚠
- p.Arg1988His Multiple submitters Inborn genetic diseases
- p.Arg1996His Multiple submitters Inborn genetic diseases ⚠
- p.Arg244Gln Multiple submitters ⚠
- p.Arg336Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg336Trp Multiple submitters ⚠
- p.Arg350Gln Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Arg350Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg392Trp Multiple submitters Inborn genetic diseases
- p.Arg421Gln Multiple submitters ⚠
- p.Arg432Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg461Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg461His Multiple submitters ⚠
- p.Arg461Leu Multiple submitters
- p.Arg466His Multiple submitters ⚠
- p.Arg473Cys Multiple submitters ⚠
- p.Arg473His Multiple submitters Inborn genetic diseases
- p.Arg476Cys Multiple submitters ⚠
- p.Arg476Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg551Trp Multiple submitters ⚠
- p.Arg597Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg704His Multiple submitters ⚠
- p.Arg705Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Arg709Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Arg721Cys Multiple submitters ⚠
- p.Arg721His Multiple submitters ⚠
- p.Arg767His Multiple submitters autosomal dominant nonsyndromic hearing loss ⚠
- p.Arg820Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg856Trp Multiple submitters ⚠
- p.Arg88Trp Multiple submitters ⚠
- p.Arg894Gln Multiple submitters MYH14-related disorder ⚠
- p.Arg93Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg947His Multiple submitters ⚠
- p.Arg949Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg974Cys Multiple submitters ⚠
- p.Arg98His Multiple submitters ⚠
- p.Asn1814Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn1934Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Asn616Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn792Ser Multiple submitters ⚠
- p.Asp1159Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp1618Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp1769Val Multiple submitters ⚠
- p.Asp541Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp612Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp696Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gln1134Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gln1198Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gln1323Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln1341Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln1496Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln1605His Multiple submitters Inborn genetic diseases ⚠
- p.Gln1709= Multiple submitters
- p.Gln1925Glu Multiple submitters ⚠
- p.Gln406Arg Multiple submitters ⚠
- p.Gln47Leu Multiple submitters ⚠
- p.Glu1160Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1188Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu1204Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Glu1249Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1468Gly Multiple submitters ⚠
- p.Glu1471Gly Multiple submitters MYH14-related disorder ⚠
- p.Glu1517Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1528Lys Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Glu1681Gly Multiple submitters ⚠
- p.Glu179Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Glu1801Lys Multiple submitters MYH14-related disorder ⚠
- p.Glu1825Gln Multiple submitters Inborn genetic diseases
- p.Glu1886Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu1973Lys Multiple submitters ⚠
- p.Glu243Gln Multiple submitters Meniere disease ⚠
- p.Glu330Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu61Gln Multiple submitters ⚠
- p.Glu77Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu79Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu910Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu977Gln Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Gly1405Trp Multiple submitters ⚠
- p.Gly1844Arg Multiple submitters Inborn genetic diseases
- p.Gly1957Ser Multiple submitters ⚠
- p.Gly1989Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Gly1989Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly2020Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly341Arg Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Gly586Ser Multiple submitters Inborn genetic diseases ⚠
- p.His1634Gln Multiple submitters ⚠
- p.His2034Pro Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Ile284Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile289Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Ile549Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile794Asn Multiple submitters ⚠
- p.Leu1047= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Leu1083Phe Multiple submitters MYH14-related disorder
- p.Leu1294Val Multiple submitters hearing loss disorder ⚠
- p.Leu1855Arg Multiple submitters ⚠
- p.Leu1877Phe Multiple submitters ⚠
- p.Leu714Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu757Ile Multiple submitters ⚠
- p.Leu89Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys1194Glu Multiple submitters ⚠
- p.Lys1871Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met161Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe1730del Multiple submitters
- p.Pro2025Leu Multiple submitters ⚠
- p.Pro251His Multiple submitters ⚠
- p.Pro544Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Pro552Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro552Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro593= Multiple submitters autosomal dominant nonsyndromic hearing loss 4A
- p.Pro750Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro901Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser1757Leu Multiple submitters ⚠
- p.Ser2024Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser2030Thr Multiple submitters ⚠
- p.Ser220Leu Multiple submitters Inborn genetic diseases
- p.Ser732Arg Multiple submitters ⚠
- p.Thr1245Ile Multiple submitters ⚠
- p.Thr1386Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr1724Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr197Ile Multiple submitters ⚠
- p.Thr1997Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr906Met Multiple submitters MYH14-related disorder ⚠
- p.Trp1280Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp462Gly Multiple submitters peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Tyr884Cys Multiple submitters ⚠
- p.Val218Met Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Val4Met Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Val520Met Multiple submitters Inborn genetic diseases
- p.Val630Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 4A ⚠
- c.1483-11C>A Single submitter
- c.1657-7T>C Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.1945+6G>A Single submitter Progressive sensorineural hearing impairment
- c.2232+5_2232+8del Single submitter
- c.2826+3G>A Single submitter
- c.3033+6G>T Single submitter
- c.3296-1G>C Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- c.3467+1G>A Single submitter
- c.3467+4C>T Single submitter
- c.4137+1G>A Single submitter
- c.4358_4539+1687delinsAGGGGAGGAGG Single submitter
- c.4539+4G>A Single submitter
- c.4753-6C>G Single submitter
- c.4966-12C>T Single submitter
- c.5345+4A>G Single submitter
- c.5469+6C>T Single submitter
- c.5470-2A>G Single submitter
- c.562+5G>T Single submitter
- c.563-3C>G Single submitter
- c.5678+1G>A Single submitter MYH14-related disorder
- c.591-3C>T Single submitter
- c.5961-4A>C Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.874+4T>G Single submitter
- c.-15C>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.-17G>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.-31C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.-37C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.-4+8C>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.-48C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*142C>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*144C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*155T>C Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*243G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*337C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*382TC[9] Single submitter
- c.*400T>C Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*474A>G Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*531C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*604G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*64G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*667G>A Single submitter autosomal dominant nonsyndromic hearing loss 4A
- c.*738C>T Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1092Gly Single submitter ⚠
- p.Ala1095Val Single submitter ⚠
- p.Ala1153Thr Single submitter peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ⚠
- p.Ala1155Gly Single submitter ⚠
- p.Ala1155Val Single submitter ⚠
- p.Ala1157Val Single submitter ⚠
- p.Ala1176Val Single submitter ⚠
- p.Ala1181Val Single submitter ⚠
- p.Ala1191Ser Single submitter ⚠
- p.Ala1195Glu Single submitter ⚠
- p.Ala1195Val Single submitter ⚠
- p.Ala1222Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1267Val Single submitter Inborn genetic diseases ⚠
- p.Ala1286Asp Single submitter ⚠
- p.Ala1286Val Single submitter ⚠
- p.Ala1289Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1353= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1357Thr Single submitter ⚠
- p.Ala1388= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1388Glu Single submitter ⚠
- p.Ala1391Thr Single submitter ⚠
- p.Ala1398= Single submitter
- p.Ala13Val Single submitter ⚠
- p.Ala1404= Single submitter autosomal dominant nonsyndromic hearing loss 4A
- p.Ala1455Thr Single submitter ⚠
- p.Ala1532Ser Single submitter ⚠
- p.Ala1543Thr Single submitter ⚠
- p.Ala1549Thr Single submitter autosomal dominant nonsyndromic hearing loss 4A ⚠
- p.Ala1599Asp Single submitter
- p.Ala1619Gly Single submitter ⚠
- p.Ala1629Thr Single submitter
- p.Ala1676Val Single submitter ⚠