TRIOBP — 1079 ClinVar variants
All ClinVar germline TRIOBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 460 flagged for review →
58 Pathogenic · 13 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 54 Conflicting · 64 Benign · 60 Benign/Likely benign · 318 Likely benign · 478 Uncertain significance
Full TRIOBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 460
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.
-
TRIOBP p.Pro276Ser
Likely pathogenic
No assertion criteria
autosomal recessive nonsyndromic hearing loss 28
Predictors agree, ClinVar conflicts 28
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TRIOBP p.Ala1568Gly Conflicting Single submitter
-
TRIOBP p.Ala1905Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TRIOBP p.Arg1309His
Conflicting
Single submitter
Inborn genetic diseases
- TRIOBP p.Arg1368Gln Conflicting Single submitter
-
TRIOBP p.Arg1595Cys
Conflicting
Single submitter
Inborn genetic diseases
-
TRIOBP p.Arg2172Gln
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Arg2337Gln Conflicting Single submitter
-
TRIOBP p.Arg237Trp
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Arg409Trp Conflicting Single submitter
-
TRIOBP p.Arg655Gln
Conflicting
Single submitter
Inborn genetic diseases
- TRIOBP p.Asp1722Glu Conflicting Single submitter
- TRIOBP p.Asp945Glu Conflicting Single submitter
-
TRIOBP p.Glu1974Asp
Conflicting
Single submitter
Inborn genetic diseases
-
TRIOBP p.Gly2003Ser
Conflicting
Single submitter
Inborn genetic diseases
-
TRIOBP p.Gly212Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Gly2186Ser Conflicting Single submitter
- TRIOBP p.Ile1928Val Conflicting Single submitter
-
TRIOBP p.Pro1598Ala
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Pro191Leu Conflicting Single submitter
- TRIOBP p.Pro1956Leu Conflicting Single submitter
- TRIOBP p.Ser137Gly Conflicting Single submitter
- TRIOBP p.Ser1481Phe Conflicting Single submitter
-
TRIOBP p.Ser2095Pro
Conflicting
Single submitter
Inborn genetic diseases
-
TRIOBP p.Ser2121Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Ser688Asn Conflicting Single submitter
-
TRIOBP p.Thr272Lys
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Thr564Ala Conflicting Single submitter
- TRIOBP p.Thr68Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 348
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 348
- TRIOBP p.Ala1129Val Uncertain significance Multiple submitters
-
TRIOBP p.Ala2012Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Ala2081Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Ala2110Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Ala414Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg1045Cys Uncertain significance Multiple submitters
- TRIOBP p.Arg1072Gln Uncertain significance Multiple submitters
-
TRIOBP p.Arg1072Gly
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Arg1221Gln
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Arg1221Trp Uncertain significance Multiple submitters
-
TRIOBP p.Arg1231His
Uncertain significance
Multiple submitters
hearing loss disorder
- TRIOBP p.Arg1304His Uncertain significance Multiple submitters
- TRIOBP p.Arg1315His Uncertain significance Multiple submitters
- TRIOBP p.Arg1331Pro Uncertain significance Multiple submitters
-
TRIOBP p.Arg1368Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg1756Trp Uncertain significance Multiple submitters
- TRIOBP p.Arg1773Gln Uncertain significance Multiple submitters
- TRIOBP p.Arg189Ser Uncertain significance Multiple submitters
-
TRIOBP p.Arg1930Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Arg1960Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Arg1964Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg1964Gly Uncertain significance Multiple submitters
-
TRIOBP p.Arg1964His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg1968His Uncertain significance Multiple submitters
- TRIOBP p.Arg196Thr Uncertain significance Multiple submitters
-
TRIOBP p.Arg2008Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Arg2008Trp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Arg2054Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg2054His Uncertain significance Multiple submitters
-
TRIOBP p.Arg2057Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg2057His Uncertain significance Multiple submitters
- TRIOBP p.Arg2131Gln Uncertain significance Multiple submitters
- TRIOBP p.Arg216Gln Uncertain significance Multiple submitters
- TRIOBP p.Arg2231His Uncertain significance Multiple submitters
- TRIOBP p.Arg2232Cys Uncertain significance Multiple submitters
- TRIOBP p.Arg2259His Uncertain significance Multiple submitters
- TRIOBP p.Arg22Cys Uncertain significance Multiple submitters
-
TRIOBP p.Arg673Lys
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Arg861Gln Uncertain significance Multiple submitters
-
TRIOBP p.Arg885His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg926Cys Uncertain significance Multiple submitters
- TRIOBP p.Arg926His Uncertain significance Multiple submitters
- TRIOBP p.Asn591Ser Uncertain significance Multiple submitters
-
TRIOBP p.Asp1138Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Asp1152Glu Uncertain significance Multiple submitters
-
TRIOBP p.Asp2017Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Asp52Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Asp852Val
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Gln1107Arg Uncertain significance Multiple submitters
- TRIOBP p.Gln1337Glu Uncertain significance Multiple submitters
- TRIOBP p.Gln1723Lys Uncertain significance Multiple submitters
-
TRIOBP p.Gln2211Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Gln811Arg Uncertain significance Multiple submitters
- TRIOBP p.Gln957Glu Uncertain significance Multiple submitters
-
TRIOBP p.Glu1314Asp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Glu1556Lys Uncertain significance Multiple submitters
- TRIOBP p.Glu163Ala Uncertain significance Multiple submitters
-
TRIOBP p.Glu1984Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Glu2004Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Glu2066Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Glu2340Asp Uncertain significance Multiple submitters
- TRIOBP p.Gly1564Ala Uncertain significance Multiple submitters
- TRIOBP p.Gly213Ser Uncertain significance Multiple submitters
- TRIOBP p.Gly2260Ser Uncertain significance Multiple submitters
-
TRIOBP p.Gly2268Asp
Uncertain significance
Multiple submitters
hearing loss disorder
- TRIOBP p.Ile1218Phe Uncertain significance Multiple submitters
- TRIOBP p.Ile1218Val Uncertain significance Multiple submitters
-
TRIOBP p.Leu1139Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Leu1424Val Uncertain significance Multiple submitters
- TRIOBP p.Leu844Arg Uncertain significance Multiple submitters
- TRIOBP p.Lys2320Arg Uncertain significance Multiple submitters
- TRIOBP p.Met1151Val Uncertain significance Multiple submitters
- TRIOBP p.Pro1071Arg Uncertain significance Multiple submitters
- TRIOBP p.Pro1084Ser Uncertain significance Multiple submitters
- TRIOBP p.Pro1161Leu Uncertain significance Multiple submitters
-
TRIOBP p.Pro1230Leu
Uncertain significance
Multiple submitters
TRIOBP-related disorder
- TRIOBP p.Pro1258Thr Uncertain significance Multiple submitters
- TRIOBP p.Pro1433Leu Uncertain significance Multiple submitters
- TRIOBP p.Pro1439Leu Uncertain significance Multiple submitters
- TRIOBP p.Pro1473Leu Uncertain significance Multiple submitters
- TRIOBP p.Pro1733Leu Uncertain significance Multiple submitters
-
TRIOBP p.Pro2103Leu
Uncertain significance
Multiple submitters
TRIOBP-related disorder
-
TRIOBP p.Pro892Ala
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Ser1027Pro Uncertain significance Multiple submitters
-
TRIOBP p.Ser1173Phe
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Ser1352Asn Uncertain significance Multiple submitters
- TRIOBP p.Ser1898Leu Uncertain significance Multiple submitters
-
TRIOBP p.Ser1949Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Ser980Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Thr1513Met
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Thr1637Ser
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Thr1684Met Uncertain significance Multiple submitters
-
TRIOBP p.Thr839Ser
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Thr914Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRIOBP p.Tyr2325Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Val152Ala Uncertain significance Multiple submitters
-
TRIOBP p.Val2000Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Val2288Ile Uncertain significance Multiple submitters
- TRIOBP p.Ala1073Ser Uncertain significance Single submitter
- TRIOBP p.Ala1274Gly Uncertain significance Single submitter
-
TRIOBP p.Ala1274Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Ala1323Val Uncertain significance Single submitter
- TRIOBP p.Ala1363Pro Uncertain significance Single submitter
- TRIOBP p.Ala1469Glu Uncertain significance Single submitter
- TRIOBP p.Ala1523Thr Uncertain significance Single submitter
- TRIOBP p.Ala1599Gly Uncertain significance Single submitter
-
TRIOBP p.Ala1645Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Ala1693Val Uncertain significance Single submitter
- TRIOBP p.Ala1738Pro Uncertain significance Single submitter
-
TRIOBP p.Ala1905Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIOBP p.Ala1918Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Ala1923Glu Uncertain significance Single submitter
- TRIOBP p.Ala2092Thr Uncertain significance Single submitter
- TRIOBP p.Ala2165Thr Uncertain significance Single submitter
- TRIOBP p.Ala218Val Uncertain significance Single submitter
- TRIOBP p.Ala278Pro Uncertain significance Single submitter
- TRIOBP p.Ala423Thr Uncertain significance Single submitter
- TRIOBP p.Ala545Ser Uncertain significance Single submitter
- TRIOBP p.Ala561Thr Uncertain significance Single submitter
- TRIOBP p.Ala756Thr Uncertain significance Single submitter
- TRIOBP p.Ala796Val Uncertain significance Single submitter
- TRIOBP p.Ala999Thr Uncertain significance Single submitter
- TRIOBP p.Arg1021Gln Uncertain significance Single submitter
- TRIOBP p.Arg1068Gln Uncertain significance Single submitter
- TRIOBP p.Arg107Gln Uncertain significance Single submitter
- TRIOBP p.Arg1117Gln Uncertain significance Single submitter
-
TRIOBP p.Arg1253Gln
Uncertain significance
Single submitter
TRIOBP-related disorder
- TRIOBP p.Arg1267Gln Uncertain significance Single submitter
- TRIOBP p.Arg1298Cys Uncertain significance Single submitter
- TRIOBP p.Arg1298His Uncertain significance Single submitter
- TRIOBP p.Arg1331Gln Uncertain significance Single submitter
- TRIOBP p.Arg1331Trp Uncertain significance Single submitter
- TRIOBP p.Arg1367Gln Uncertain significance Single submitter
- TRIOBP p.Arg1408Trp Uncertain significance Single submitter
- TRIOBP p.Arg1553Gly Uncertain significance Single submitter
- TRIOBP p.Arg1567Trp Uncertain significance Single submitter
- TRIOBP p.Arg1576His Uncertain significance Single submitter
- TRIOBP p.Arg1595His Uncertain significance Single submitter
- TRIOBP p.Arg1751Trp Uncertain significance Single submitter
- TRIOBP p.Arg1756Gln Uncertain significance Single submitter
- TRIOBP p.Arg179Leu Uncertain significance Single submitter
- TRIOBP p.Arg1922Gln Uncertain significance Single submitter
- TRIOBP p.Arg1934Gln Uncertain significance Single submitter
-
TRIOBP p.Arg1934Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIOBP p.Arg1958Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIOBP p.Arg1958Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIOBP p.Arg1960His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIOBP p.Arg1968Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Arg1968Leu Uncertain significance Single submitter
- TRIOBP p.Arg1977Gln Uncertain significance Single submitter
Predictors split 83
The independent predictors disagree with each other — read with care.
- TRIOBP p.Ala2352Thr Uncertain significance Multiple submitters
- TRIOBP p.Ala531Pro Benign/Likely benign Multiple submitters
- TRIOBP p.Ala660Val Benign Multiple submitters
-
TRIOBP p.Arg1840Leu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Arg1940Cys Uncertain significance Multiple submitters
-
TRIOBP p.Arg2043Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Arg2083His Uncertain significance Multiple submitters
- TRIOBP p.Arg2139Cys Uncertain significance Multiple submitters
- TRIOBP p.Arg546Gln Uncertain significance Multiple submitters
- TRIOBP p.Arg635Gly Uncertain significance Multiple submitters
-
TRIOBP p.Asn2041Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Asp1138Tyr Uncertain significance Multiple submitters
- TRIOBP p.Asp436Asn Benign Multiple submitters
- TRIOBP p.Asp680Val Uncertain significance Multiple submitters
- TRIOBP p.Glu2224Gly Uncertain significance Multiple submitters
- TRIOBP p.Gly1219Arg Uncertain significance Multiple submitters
- TRIOBP p.Leu1979Pro Uncertain significance Multiple submitters
-
TRIOBP p.Phe1187Leu
Benign
Multiple submitters
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Pro1762Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRIOBP p.Ser2175Arg Uncertain significance Multiple submitters
- TRIOBP p.Thr1758Lys Uncertain significance Multiple submitters
- TRIOBP p.Tyr2321His Uncertain significance Multiple submitters
- TRIOBP p.Val1164Met Uncertain significance Multiple submitters
- TRIOBP p.Val1307Leu Uncertain significance Multiple submitters
- TRIOBP p.Val2300Ala Benign Multiple submitters
- TRIOBP p.Ala1023Val Conflicting Single submitter
- TRIOBP p.Ala2349Val Uncertain significance Single submitter
-
TRIOBP p.Ala322Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Arg1304Cys
Uncertain significance
Single submitter
hearing loss disorder
- TRIOBP p.Arg1304Gly Uncertain significance Single submitter
- TRIOBP p.Arg1315Cys Uncertain significance Single submitter
- TRIOBP p.Arg1982Cys Uncertain significance Single submitter
- TRIOBP p.Arg1982Leu Uncertain significance Single submitter
- TRIOBP p.Arg1986Gln Uncertain significance Single submitter
- TRIOBP p.Arg2337Trp Uncertain significance Single submitter
-
TRIOBP p.Arg399Gly
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Arg474Gln Uncertain significance Single submitter
-
TRIOBP p.Arg507Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Arg543Gly Uncertain significance Single submitter
- TRIOBP p.Arg556Trp Uncertain significance Single submitter
-
TRIOBP p.Arg569Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Arg572Gln Uncertain significance Single submitter
- TRIOBP p.Arg582Trp Uncertain significance Single submitter
- TRIOBP p.Arg586Lys Uncertain significance Single submitter
-
TRIOBP p.Arg631Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRIOBP p.Arg751Trp Uncertain significance Single submitter
- TRIOBP p.Asn394Lys Uncertain significance Single submitter
- TRIOBP p.Asn607Asp Uncertain significance Single submitter
- TRIOBP p.Asn623Asp Uncertain significance Single submitter
-
TRIOBP p.Asp1222His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRIOBP p.Asp2017His
Uncertain significance
Single submitter
hearing loss disorder
- TRIOBP p.Asp534Asn Uncertain significance Single submitter
- TRIOBP p.Asp622Tyr Uncertain significance Single submitter
-
TRIOBP p.Gln717Glu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Glu2254Asp Uncertain significance Single submitter
- TRIOBP p.Glu2340Lys Uncertain significance Single submitter
- TRIOBP p.Glu2344Lys Uncertain significance Single submitter
- TRIOBP p.Glu317Asp Uncertain significance Single submitter
-
TRIOBP p.Gly1019Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Gly2104Arg Uncertain significance Single submitter
- TRIOBP p.His1067Gln Uncertain significance Single submitter
- TRIOBP p.Leu2036Val Uncertain significance Single submitter
- TRIOBP p.Pro1224Leu Uncertain significance Single submitter
- TRIOBP p.Pro2045Leu Uncertain significance Single submitter
-
TRIOBP p.Pro428Arg
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Ser1075Leu Uncertain significance Single submitter
- TRIOBP p.Ser1150Phe Uncertain significance Single submitter
- TRIOBP p.Ser1228Pro Uncertain significance Single submitter
- TRIOBP p.Ser304Pro Uncertain significance Single submitter
- TRIOBP p.Ser344Phe Uncertain significance Single submitter
- TRIOBP p.Ser418Phe Uncertain significance Single submitter
- TRIOBP p.Ser503Phe Uncertain significance Single submitter
-
TRIOBP p.Ser562Cys
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Ser699Phe Uncertain significance Single submitter
- TRIOBP p.Ser699Thr Uncertain significance Single submitter
-
TRIOBP p.Ser734Phe
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Ser936Cys Uncertain significance Single submitter
- TRIOBP p.Thr600Ile Uncertain significance Single submitter
- TRIOBP p.Thr650Ile Uncertain significance Single submitter
-
TRIOBP p.Thr690Ser
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 28
- TRIOBP p.Trp1559Arg Uncertain significance Single submitter
-
TRIOBP p.Gly2183Asp
Uncertain significance
No assertion criteria
autosomal recessive nonsyndromic hearing loss 28
-
TRIOBP p.Leu2187Pro
Uncertain significance
No assertion criteria
Meniere disease
All TRIOBP variants
Pathogenic 58
- p.Arg1072fs Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1078fs Multiple submitters Rare genetic deafness
- p.Arg1117Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg347Ter Multiple submitters TRIOBP-related disorder
- p.Arg448fs Multiple submitters
- p.Arg448Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg595Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg774Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg788Ter Multiple submitters TRIOBP-related disorder
- p.Arg841Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg861Ter Multiple submitters TRIOBP-related disorder
- p.Arg920Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Gln1099Ter Multiple submitters hearing loss, autosomal recessive
- p.Gln645Ter Multiple submitters TRIOBP-related disorder
- p.Leu1154fs Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- c.251_254+22del Single submitter
- p.Ala1541fs Single submitter
- p.Arg2200Ter Single submitter nonsyndromic genetic hearing loss
- p.Arg474Ter Single submitter
- p.Arg497Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg586fs Single submitter
- p.Arg621Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg654Ter Single submitter
- p.Arg785fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg825fs Single submitter
- p.Gln1034Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gln1663fs Single submitter
- p.Gln336Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gln384Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gln408Ter Single submitter
- p.Gln581Ter Single submitter nonsyndromic genetic hearing loss
- p.Gln717fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gln717Ter Single submitter
- p.Gln740fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gln850Ter Single submitter
- p.Glu1432Ter Single submitter
- p.Glu2087fs Single submitter
- p.Gly1463Ter Single submitter
- p.Ile17fs Single submitter
- p.Leu1004fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Leu1206fs Single submitter
- p.Leu1240fs Single submitter
- p.Leu1767fs Single submitter
- p.Phe368fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Pro1089fs Single submitter
- p.Pro1163fs Single submitter
- p.Pro369fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Ser1392fs Single submitter
- p.Thr599fs Single submitter
- p.Trp1539fs Single submitter
- p.Trp1582Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Tyr996fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg1225fs No assertion criteria autosomal recessive nonsyndromic hearing loss 28
- p.Asp1069fs No assertion criteria autosomal recessive nonsyndromic hearing loss 28
- p.Gln297Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 28
- p.Gln483Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 28
- p.Glu1431Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 28
- p.Ser1175Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 28
Pathogenic/Likely pathogenic 13
- c.5184+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1025Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1068Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg399Ter Multiple submitters TRIOBP-related disorder
- p.Arg726Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg990Ter Multiple submitters TRIOBP-related disorder
- p.Gln870fs Multiple submitters TRIOBP-related disorder
- p.Glu47fs Multiple submitters Rare genetic deafness
- p.His1440fs Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro1279fs Multiple submitters TRIOBP-related disorder
- p.Ser578fs Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Thr1480fs Multiple submitters
- p.Leu1212fs No assertion criteria hearing loss, autosomal recessive
Likely pathogenic 34
- p.Arg1509fs Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1745Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg55Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Gly1479fs Multiple submitters TRIOBP-related disorder
- c.4062+2T>C Single submitter
- c.5185-2A>G Single submitter TRIOBP-related disorder
- c.628+2T>C Single submitter
- c.6324+203dup Single submitter TRIOBP-related disorder
- c.6849+1G>T Single submitter
- c.6850-2A>C Single submitter TRIOBP-related disorder
- p.Ala619fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg1411fs Single submitter
- p.Arg253Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg389Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg792fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gln263Ter Single submitter TRIOBP-related disorder
- p.Gln716Ter Single submitter TRIOBP-related disorder
- p.Glu1048_Ser1049insTer Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Gly131fs Single submitter Rare genetic deafness
- p.His1627fs Single submitter
- p.Leu2014fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Leu2219fs Single submitter
- p.Pro864fs Single submitter TRIOBP-related disorder
- p.Ser688fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Thr1637fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Thr836fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Trp1377Ter Single submitter
- p.Trp1427Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Trp889Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Tyr1547Ter Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Val1769fs Single submitter
- p.Asp622fs No assertion criteria
- p.Pro276Ser No assertion criteria autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Ser44Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 28
Conflicting classifications of pathogenicity 54
- c.5322+5281GGC[8] Single submitter
- c.629-1G>C Single submitter Rare genetic deafness
- c.6472+13_6472+14insT Single submitter autosomal recessive nonsyndromic hearing loss 28
- c.6472+14G>T Single submitter
- c.6472+19_6472+20insA Single submitter
- p.Ala1023Val Single submitter ⚠
- p.Ala1073= Single submitter
- p.Ala1568Gly Single submitter ⚠
- p.Ala1905Thr Single submitter Inborn genetic diseases ⚠
- p.Ala322Ser Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg1225Ter Single submitter TRIOBP-related disorder
- p.Arg1285fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Arg1309His Single submitter Inborn genetic diseases ⚠
- p.Arg1368Gln Single submitter ⚠
- p.Arg1595Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1773Ter Single submitter Rare genetic deafness
- p.Arg2172Gln Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg2337Gln Single submitter ⚠
- p.Arg237Trp Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg409Trp Single submitter ⚠
- p.Arg655Gln Single submitter Inborn genetic diseases ⚠
- p.Asp1722Glu Single submitter ⚠
- p.Asp573= Single submitter
- p.Asp945Glu Single submitter ⚠
- p.Gln2257= Single submitter
- p.Gln717Glu Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Glu161= Single submitter
- p.Glu1974Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1672Ter Single submitter TRIOBP-related disorder
- p.Gly2003Ser Single submitter Inborn genetic diseases ⚠
- p.Gly212= Single submitter
- p.Gly212Ser Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Gly2186Ser Single submitter ⚠
- p.His1103= Single submitter
- p.Ile1928Val Single submitter ⚠
- p.Ile937= Single submitter
- p.Leu1951= Single submitter
- p.Pro1258= Single submitter
- p.Pro1598Ala Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Pro191Leu Single submitter ⚠
- p.Pro1956Leu Single submitter ⚠
- p.Pro428Arg Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Ser137Gly Single submitter ⚠
- p.Ser1481Phe Single submitter ⚠
- p.Ser2095Pro Single submitter Inborn genetic diseases ⚠
- p.Ser2120= Single submitter
- p.Ser2121Leu Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Ser688Asn Single submitter ⚠
- p.Ser734Phe Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Ser978fs Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Thr1758= Single submitter
- p.Thr272Lys Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Thr564Ala Single submitter ⚠
- p.Thr68Ala Single submitter ⚠
Benign 64
- c.255-102G>T Multiple submitters
- c.255-112C>T Multiple submitters
- c.4063-21A>C Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- c.5185-226C>T Multiple submitters
- c.5322+5160G>T Multiple submitters
- c.5688-230C>G Multiple submitters
- c.6324+226A>G Multiple submitters
- c.6324+46C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- c.6472+19dup Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- c.6473-304C>G Multiple submitters
- c.6576-168C>G Multiple submitters
- c.6849+67G>A Multiple submitters
- c.6937-100T>C Multiple submitters
- c.-14C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ala660Val Multiple submitters ⚠
- p.Arg798Trp Multiple submitters
- p.Asn863Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Asp436Asn Multiple submitters ⚠
- p.Gln1325= Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Gln870= Multiple submitters
- p.Glu1372Asp Multiple submitters
- p.His1300Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ile819Thr Multiple submitters
- p.Phe1187Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Pro1030Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro1393Leu Multiple submitters
- p.Pro1548Leu Multiple submitters
- p.Ser1295= Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ser217= Multiple submitters
- p.Ser217Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ser493Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ser826Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Thr2152Met Multiple submitters
- p.Thr817Ser Multiple submitters
- p.Trp1377Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Tyr2166= Multiple submitters
- p.Val2300Ala Multiple submitters ⚠
- c.114+252T>A Single submitter
- c.115-175A>T Single submitter
- c.115-209T>G Single submitter
- c.115-326C>T Single submitter
- c.254+173dup Single submitter
- c.255-252AAAT[11] Single submitter
- c.255-252AAAT[8] Single submitter
- c.255-252AAAT[9] Single submitter
- c.3948-219G>A Single submitter
- c.4062+274_4062+276del Single submitter
- c.4062+275_4062+276del Single submitter
- c.4062+276del Single submitter
- c.4062+276dup Single submitter
- c.4063-31A>C Single submitter
- c.5185-315A>C Single submitter
- c.5322+5197_5322+5200dup Single submitter
- c.5322+5198_5322+5200dup Single submitter
- c.5322+5199_5322+5200dup Single submitter
- c.6213+268G>C Single submitter
- c.628+284T>C Single submitter
- c.6324+14dup Single submitter
- c.6735+32del Single submitter
- c.6849+205G>A Single submitter
- c.-60-107_-60-106dup Single submitter
- c.*2+249A>G Single submitter
- c.*3-4T>C Single submitter autosomal recessive nonsyndromic hearing loss 28
- p.Ser647Asn No assertion criteria TRIOBP-related disorder
Benign/Likely benign 60
- c.114+16A>G Multiple submitters
- c.4062+19C>T Multiple submitters
- c.5322+5329C>T Multiple submitters
- c.6472+10C>T Multiple submitters
- c.6472+13_6472+14insA Multiple submitters
- c.6472+14_6472+15insC Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- c.6472+14_6472+15insT Multiple submitters
- c.6472+15_6472+16insA Multiple submitters
- c.6472+15_6472+16insC Multiple submitters
- c.6472+16_6472+17insC Multiple submitters
- c.6472+18_6472+19dup Multiple submitters
- c.6575+14G>A Multiple submitters
- c.6936+13G>T Multiple submitters
- p.Ala1256Val Multiple submitters
- p.Ala1923Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ala322Val Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ala531Pro Multiple submitters ⚠
- p.Ala531Thr Multiple submitters
- p.Ala998Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1025Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1078Cys Multiple submitters
- p.Arg1344Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg1445Gly Multiple submitters
- p.Arg1576= Multiple submitters
- p.Arg1576Cys Multiple submitters
- p.Arg1922Trp Multiple submitters
- p.Arg409Gln Multiple submitters
- p.Arg745Lys Multiple submitters
- p.Asn2269Ser Multiple submitters
- p.Asn421= Multiple submitters
- p.Asp168Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Asp386= Multiple submitters
- p.Asp622= Multiple submitters
- p.Cys628= Multiple submitters
- p.Gln2138= Multiple submitters
- p.Gln398del Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Gln702Arg Multiple submitters
- p.Gln888= Multiple submitters
- p.Glu1380Gly Multiple submitters
- p.Glu1495Val Multiple submitters
- p.Glu2246Lys Multiple submitters
- p.Glu2344= Multiple submitters
- p.Gly131Ser Multiple submitters
- p.His2191Tyr Multiple submitters
- p.Leu1389Ile Multiple submitters
- p.Leu1443= Multiple submitters
- p.Leu2247= Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro1359= Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro1686= Multiple submitters
- p.Pro1962= Multiple submitters
- p.Pro2045= Multiple submitters
- p.Pro378Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro89Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ser121= Multiple submitters
- p.Ser1318= Multiple submitters
- p.Ser166Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ser2091Thr Multiple submitters
- p.Ser540del Multiple submitters
- p.Ser908= Multiple submitters
- p.Thr195Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 28
Likely benign 318
Showing the top 300 by review status; the full set is in the sitemap.
- c.115-35C>T Multiple submitters
- c.254+120G>T Multiple submitters
- c.3947+8C>T Multiple submitters
- c.5322+20G>C Multiple submitters
- c.5322+48G>A Multiple submitters
- c.5322+5264G>T Multiple submitters
- c.5322+5281GGC[10] Multiple submitters
- c.5322+5328C>G Multiple submitters
- c.5688-13G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- c.5688-262A>G Multiple submitters
- c.6214-5C>T Multiple submitters
- c.628+18G>T Multiple submitters
- c.6324+162G>A Multiple submitters
- c.6324+194A>G Multiple submitters
- c.6324+235C>T Multiple submitters
- c.6324+9G>A Multiple submitters
- c.6325-10C>T Multiple submitters
- c.6472+13_6472+14insC Multiple submitters
- c.6472+14G>C Multiple submitters
- c.6472+15G>T Multiple submitters
- c.6472+18_6472+19insC Multiple submitters
- c.6936+123C>T Multiple submitters
- c.6936+12C>T Multiple submitters
- c.6937-41G>A Multiple submitters
- c.*2+127G>A Multiple submitters
- p.Ala1256= Multiple submitters
- p.Ala1591= Multiple submitters
- p.Ala1645= Multiple submitters
- p.Ala1923= Multiple submitters
- p.Ala2081= Multiple submitters
- p.Ala32= Multiple submitters
- p.Arg1367Trp Multiple submitters
- p.Arg1408= Multiple submitters
- p.Arg1504Gly Multiple submitters
- p.Arg159Ser Multiple submitters
- p.Arg2259= Multiple submitters
- p.Arg726= Multiple submitters
- p.Asn127= Multiple submitters
- p.Asn617Ser Multiple submitters
- p.Asp2017= Multiple submitters
- p.Asp2323= Multiple submitters
- p.Asp704= Multiple submitters
- p.Cys432= Multiple submitters
- p.Gln644= Multiple submitters
- p.Gly1019= Multiple submitters
- p.Leu1212Gln Multiple submitters
- p.Leu122Ser Multiple submitters
- p.Leu1742Phe Multiple submitters Inborn genetic diseases
- p.Leu2348= Multiple submitters
- p.Pro1086Thr Multiple submitters
- p.Pro1289= Multiple submitters
- p.Pro1433= Multiple submitters
- p.Pro1473= Multiple submitters
- p.Pro1516= Multiple submitters
- p.Pro1644= Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro1741= Multiple submitters
- p.Pro198= Multiple submitters
- p.Pro663= Multiple submitters
- p.Pro997= Multiple submitters
- p.Ser1123= Multiple submitters
- p.Ser1749= Multiple submitters
- p.Ser2121= Multiple submitters
- p.Ser2264= Multiple submitters
- p.Thr1499= Multiple submitters
- p.Thr211= Multiple submitters
- p.Thr2317= Multiple submitters
- c.114+256T>G Single submitter
- c.115-148C>T Single submitter
- c.115-177C>T Single submitter
- c.115-55G>T Single submitter
- c.115-74G>A Single submitter
- c.255-10C>T Single submitter
- c.255-11T>C Single submitter
- c.255-240_255-234del Single submitter
- c.255-242del Single submitter
- c.255-252AAAT[12] Single submitter
- c.255-4C>T Single submitter
- c.3947+180T>G Single submitter
- c.3947+8C>G Single submitter
- c.3947+9G>C Single submitter
- c.3948-240C>T Single submitter
- c.4063-14C>T Single submitter
- c.4063-17C>A Single submitter
- c.4063-17C>T Single submitter
- c.4063-225C>T Single submitter
- c.4063-264T>C Single submitter
- c.456+11A>G Single submitter
- c.457-12C>T Single submitter
- c.457-13C>G Single submitter
- c.457-271G>A Single submitter
- c.5106+7_5106+9del Single submitter
- c.5184+82A>G Single submitter
- c.5185-16G>A Single submitter
- c.5185-95G>A Single submitter
- c.5322+262G>C Single submitter
- c.5322+5077G>T Single submitter
- c.5322+5198_5322+5199insGAA Single submitter
- c.5322+5200del Single submitter
- c.5322+5200dup Single submitter
- c.5322+5241A>G Single submitter
- c.5322+5281GGC[6] Single submitter
- c.5322+5325G>A Single submitter
- c.5322+5328C>T Single submitter
- c.5322+5351G>T Single submitter
- c.5322+5364G>A Single submitter
- c.5323-5338T>C Single submitter
- c.5380-192G>A Single submitter
- c.5688-9G>C Single submitter
- c.6213+44G>A Single submitter
- c.6213+8C>T Single submitter
- c.6214-18C>T Single submitter
- c.628+94A>G Single submitter
- c.628+94dup Single submitter
- c.629-26C>T Single submitter
- c.629-281T>A Single submitter
- c.6324+14G>A Single submitter
- c.6324+16T>G Single submitter
- c.6324+177G>A Single submitter
- c.6324+191G>A Single submitter
- c.6324+224C>T Single submitter
- c.6324+233C>G Single submitter
- c.6324+236G>A Single submitter
- c.6324+305G>A Single submitter
- c.6324+8C>T Single submitter
- c.6324+90C>T Single submitter
- c.6324+9G>C Single submitter
- c.6325-16G>A Single submitter
- c.6325-9G>C Single submitter
- c.6472+11dup Single submitter
- c.6472+12G>T Single submitter
- c.6472+14_6472+15insA Single submitter
- c.6472+14G>A Single submitter
- c.6472+15_6472+16insT Single submitter
- c.6472+15G>A Single submitter
- c.6472+15G>C Single submitter
- c.6472+16_6472+17insT Single submitter
- c.6472+17_6472+18insA Single submitter
- c.6472+17_6472+18insT Single submitter
- c.6472+18_6472+19insA Single submitter
- c.6472+18G>T Single submitter
- c.6472+315G>A Single submitter
- c.6472+33G>A Single submitter
- c.6473-179A>G Single submitter
- c.6575+13C>T Single submitter
- c.6575+18C>A Single submitter
- c.6575+76C>T Single submitter
- c.6575+96del Single submitter
- c.6576-181C>G Single submitter
- c.6576-207del Single submitter
- c.6576-207dup Single submitter
- c.6736-10C>G Single submitter
- c.6736-13G>A Single submitter
- c.6736-16A>G Single submitter
- c.6849+219A>G Single submitter
- c.6850-10A>G Single submitter
- c.6850-13C>A Single submitter
- c.6850-13C>T Single submitter
- c.6850-19C>G Single submitter
- c.6850-213C>T Single submitter
- c.6850-6C>A Single submitter
- c.6850-6C>T Single submitter
- c.6936+11C>T Single submitter
- c.6936+120G>A Single submitter
- c.6936+14C>T Single submitter
- c.6936+15T>C Single submitter
- c.6936+172G>T Single submitter
- c.6937-5C>T Single submitter
- c.-60-129G>C Single submitter
- c.*2+10G>A Single submitter
- c.*2+168A>G Single submitter
- p.Ala101Thr Single submitter
- p.Ala1046= Single submitter
- p.Ala1094= Single submitter
- p.Ala1274= Single submitter
- p.Ala1541Thr Single submitter
- p.Ala1674= Single submitter
- p.Ala1693= Single submitter
- p.Ala1936= Single submitter
- p.Ala292= Single submitter
- p.Ala472= Single submitter
- p.Ala580= Single submitter
- p.Ala59= Single submitter
- p.Ala593= Single submitter
- p.Ala701= Single submitter
- p.Ala91= Single submitter
- p.Arg1367= Single submitter
- p.Arg1401= Single submitter
- p.Arg1549Cys Single submitter
- p.Arg1996= Single submitter
- p.Arg2076= Single submitter
- p.Arg2226= Single submitter
- p.Arg2231= Single submitter
- p.Arg2287= Single submitter
- p.Arg237Gln Single submitter
- p.Arg331= Single submitter
- p.Arg507= Single submitter
- p.Arg605Gln Single submitter
- p.Arg654_Ala677del Single submitter
- p.Arg745= Single submitter
- p.Arg879= Single submitter
- p.Arg954= Single submitter
- p.Asn1904= Single submitter
- p.Asn2361= Single submitter
- p.Asn353= Single submitter
- p.Asn736= Single submitter
- p.Asp1620= Single submitter
- p.Asp1937= Single submitter
- p.Asp2063= Single submitter
- p.Asp2305= Single submitter
- p.Asp656= Single submitter
- p.Cys2280= Single submitter
- p.Cys481= Single submitter
- p.Cys818= Single submitter
- p.Gln1081= Single submitter
- p.Gln1341= Single submitter
- p.Gln1390= Single submitter
- p.Gln1624= Single submitter
- p.Gln1647= Single submitter
- p.Gln2085= Single submitter
- p.Gln408= Single submitter
- p.Gln668= Single submitter
- p.Gln693= Single submitter
- p.Gln702= Single submitter
- p.Gln750= Single submitter
- p.Glu1095= Single submitter
- p.Glu1524= Single submitter
- p.Glu1625= Single submitter
- p.Glu2365= Single submitter
- p.Glu31= Single submitter
- p.Gly1435= Single submitter
- p.Gly1572= Single submitter
- p.Gly1672= Single submitter
- p.Gly1914= Single submitter
- p.Gly214= Single submitter
- p.His1020= Single submitter
- p.His1155= Single submitter
- p.His1440= Single submitter
- p.His2248= Single submitter
- p.Ile1218= Single submitter
- p.Ile2101= Single submitter
- p.Ile2339= Single submitter
- p.Leu1147= Single submitter
- p.Leu1424Pro Single submitter
- p.Leu170= Single submitter
- p.Leu2014= Single submitter
- p.Leu2307= Single submitter
- p.Leu2353= Single submitter
- p.Leu79= Single submitter
- p.Leu972= Single submitter
- p.Lys1485= Single submitter
- p.Lys1971= Single submitter
- p.Lys413Arg Single submitter Inborn genetic diseases
- p.Pro1111= Single submitter
- p.Pro1140= Single submitter
- p.Pro1158= Single submitter
- p.Pro1177= Single submitter
- p.Pro1233= Single submitter
- p.Pro1246= Single submitter
- p.Pro1277= Single submitter
- p.Pro1379Ser Single submitter
- p.Pro1548= Single submitter
- p.Pro1651= Single submitter
- p.Pro175= Single submitter
- p.Pro1753= Single submitter
- p.Pro1762= Single submitter
- p.Pro191= Single submitter
- p.Pro2013= Single submitter
- p.Pro2103= Single submitter
- p.Pro320= Single submitter
- p.Pro461= Single submitter
- p.Pro510= Single submitter
- p.Pro687= Single submitter
- p.Pro720= Single submitter
- p.Pro77= Single submitter
- p.Pro905= Single submitter
- p.Ser1075= Single submitter
- p.Ser1415Asn Single submitter
- p.Ser1551= Single submitter
- p.Ser1908Gly Single submitter Inborn genetic diseases
- p.Ser1983= Single submitter
- p.Ser2062Gly Single submitter
- p.Ser2171= Single submitter
- p.Ser2210= Single submitter
- p.Ser2329Asn Single submitter
- p.Ser244= Single submitter
- p.Ser279= Single submitter
- p.Ser346= Single submitter
- p.Ser357= Single submitter
- p.Ser503= Single submitter
- p.Ser627= Single submitter
- p.Ser65= Single submitter
- p.Ser69= Single submitter
- p.Ser927= Single submitter
- p.Ser989= Single submitter
- p.Ser993= Single submitter
- p.Thr1684= Single submitter
- p.Thr1692= Single submitter
- p.Thr1997= Single submitter
- p.Thr2047= Single submitter
- p.Thr2152= Single submitter
Uncertain significance 478
Showing the top 300 by review status; the full set is in the sitemap.
- c.5185-12C>G Multiple submitters
- p.Ala1129Val Multiple submitters ⚠
- p.Ala2012Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala2081Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala2110Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala2352Thr Multiple submitters ⚠
- p.Ala414Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1045Cys Multiple submitters ⚠
- p.Arg1072Gln Multiple submitters ⚠
- p.Arg1072Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg1221Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg1221Trp Multiple submitters ⚠
- p.Arg1231His Multiple submitters hearing loss disorder ⚠
- p.Arg1304His Multiple submitters ⚠
- p.Arg1315His Multiple submitters ⚠
- p.Arg1331Pro Multiple submitters ⚠
- p.Arg1368Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1756Trp Multiple submitters ⚠
- p.Arg1773Gln Multiple submitters ⚠
- p.Arg1840Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg189Ser Multiple submitters ⚠
- p.Arg1930Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1940Cys Multiple submitters ⚠
- p.Arg1960Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1964Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1964Gly Multiple submitters ⚠
- p.Arg1964His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1968His Multiple submitters ⚠
- p.Arg196Thr Multiple submitters ⚠
- p.Arg2008Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg2008Trp Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg2043Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg2054Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2054His Multiple submitters ⚠
- p.Arg2057Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2057His Multiple submitters ⚠
- p.Arg2083His Multiple submitters ⚠
- p.Arg2131Gln Multiple submitters ⚠
- p.Arg2139Cys Multiple submitters ⚠
- p.Arg216Gln Multiple submitters ⚠
- p.Arg2231His Multiple submitters ⚠
- p.Arg2232Cys Multiple submitters ⚠
- p.Arg2259Cys Multiple submitters
- p.Arg2259His Multiple submitters ⚠
- p.Arg2287His Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Arg22Cys Multiple submitters ⚠
- p.Arg546Gln Multiple submitters ⚠
- p.Arg635Gly Multiple submitters ⚠
- p.Arg673Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg861Gln Multiple submitters ⚠
- p.Arg885His Multiple submitters Inborn genetic diseases ⚠
- p.Arg926Cys Multiple submitters ⚠
- p.Arg926His Multiple submitters ⚠
- p.Asn2041Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn591Ser Multiple submitters ⚠
- p.Asp1138Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1138Tyr Multiple submitters ⚠
- p.Asp1152Glu Multiple submitters ⚠
- p.Asp2017Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp52Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Asp680Val Multiple submitters ⚠
- p.Asp852Val Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Gln1107Arg Multiple submitters ⚠
- p.Gln1337Glu Multiple submitters ⚠
- p.Gln1723Lys Multiple submitters ⚠
- p.Gln1957Ter Multiple submitters
- p.Gln2211Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gln811Arg Multiple submitters ⚠
- p.Gln957Glu Multiple submitters ⚠
- p.Glu1269del Multiple submitters
- p.Glu1314Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Glu1556Lys Multiple submitters ⚠
- p.Glu163Ala Multiple submitters ⚠
- p.Glu1984Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu2004Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu2066Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu2224Gly Multiple submitters ⚠
- p.Glu2340Asp Multiple submitters ⚠
- p.Gly1219Arg Multiple submitters ⚠
- p.Gly1564Ala Multiple submitters ⚠
- p.Gly213Ser Multiple submitters ⚠
- p.Gly2260Ser Multiple submitters ⚠
- p.Gly2268Asp Multiple submitters hearing loss disorder ⚠
- p.Ile1218Phe Multiple submitters ⚠
- p.Ile1218Val Multiple submitters ⚠
- p.Leu1139Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu1424Val Multiple submitters ⚠
- p.Leu1979Pro Multiple submitters ⚠
- p.Leu2046_Thr2047insLysTrpGlnGluLeuGluLysLeuProLeuArgGluAsnLysArgValProLeu Multiple submitters
- p.Leu844Arg Multiple submitters ⚠
- p.Lys1902Thr Multiple submitters Inborn genetic diseases
- p.Lys2320Arg Multiple submitters ⚠
- p.Met1151Val Multiple submitters ⚠
- p.Pro1071Arg Multiple submitters ⚠
- p.Pro1084Ser Multiple submitters ⚠
- p.Pro1161Leu Multiple submitters ⚠
- p.Pro1230Leu Multiple submitters TRIOBP-related disorder ⚠
- p.Pro1258Thr Multiple submitters ⚠
- p.Pro1433Leu Multiple submitters ⚠
- p.Pro1439Leu Multiple submitters ⚠
- p.Pro1473Leu Multiple submitters ⚠
- p.Pro1733Leu Multiple submitters ⚠
- p.Pro1762Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1950Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Pro2103Leu Multiple submitters TRIOBP-related disorder ⚠
- p.Pro892Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Ser1027Pro Multiple submitters ⚠
- p.Ser1173Phe Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Ser1352Asn Multiple submitters ⚠
- p.Ser1728= Multiple submitters
- p.Ser1898Leu Multiple submitters ⚠
- p.Ser1949Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser2175Arg Multiple submitters ⚠
- p.Ser2210Leu Multiple submitters
- p.Ser688_Pro711del Multiple submitters autosomal recessive nonsyndromic hearing loss 28
- p.Ser980Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr1513Met Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Thr1637Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Thr1684Met Multiple submitters ⚠
- p.Thr1758Lys Multiple submitters ⚠
- p.Thr839Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Thr914Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr2321His Multiple submitters ⚠
- p.Tyr2325Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val1164Met Multiple submitters ⚠
- p.Val1307Leu Multiple submitters ⚠
- p.Val152Ala Multiple submitters ⚠
- p.Val2000Met Multiple submitters Inborn genetic diseases ⚠
- p.Val2288Ile Multiple submitters ⚠
- c.115-12A>T Single submitter
- c.115-275A>C Single submitter
- c.115-3C>T Single submitter
- c.254+4G>A Single submitter
- c.3948-2057G>A Single submitter
- c.4062+5G>A Single submitter
- c.4063-21_4063-10del Single submitter
- c.5322+5281GGC[9] Single submitter
- c.5322+5299G>A Single submitter
- c.5322+5369C>T Single submitter
- c.629-10C>G Single submitter
- c.629-17CT[2] Single submitter
- c.6324+214G>A Single submitter
- c.6324+240G>A Single submitter
- c.6472+16G>C Single submitter
- c.-3A>G Single submitter
- c.-60-2A>C Single submitter
- p.Ala1073Ser Single submitter ⚠
- p.Ala1274Gly Single submitter ⚠
- p.Ala1274Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1323Val Single submitter ⚠
- p.Ala1363Pro Single submitter ⚠
- p.Ala1469Glu Single submitter ⚠
- p.Ala1523Thr Single submitter ⚠
- p.Ala1599Gly Single submitter ⚠
- p.Ala1645Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1693Val Single submitter ⚠
- p.Ala1738Pro Single submitter ⚠
- p.Ala1905Val Single submitter Inborn genetic diseases ⚠
- p.Ala1918Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1923Glu Single submitter ⚠
- p.Ala2092Thr Single submitter ⚠
- p.Ala2165Thr Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala2349Val Single submitter ⚠
- p.Ala278Pro Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Ala482= Single submitter
- p.Ala512_Arg514del Single submitter
- p.Ala544Ile Single submitter
- p.Ala545Ser Single submitter ⚠
- p.Ala561Thr Single submitter ⚠
- p.Ala708= Single submitter
- p.Ala756Thr Single submitter ⚠
- p.Ala796Val Single submitter ⚠
- p.Ala999Thr Single submitter ⚠
- p.Arg1021Gln Single submitter ⚠
- p.Arg1068Gln Single submitter ⚠
- p.Arg107Gln Single submitter ⚠
- p.Arg1117Gln Single submitter ⚠
- p.Arg1127Cys Single submitter
- p.Arg1179His Single submitter
- p.Arg1253Gln Single submitter TRIOBP-related disorder ⚠
- p.Arg1267Gln Single submitter ⚠
- p.Arg1298Cys Single submitter ⚠
- p.Arg1298His Single submitter ⚠
- p.Arg1304Cys Single submitter hearing loss disorder ⚠
- p.Arg1304Gly Single submitter ⚠
- p.Arg1315Cys Single submitter ⚠
- p.Arg1316= Single submitter
- p.Arg1331Gln Single submitter ⚠
- p.Arg1331Trp Single submitter ⚠
- p.Arg1367Gln Single submitter ⚠
- p.Arg1408Trp Single submitter ⚠
- p.Arg1553Gly Single submitter ⚠
- p.Arg1567Trp Single submitter ⚠
- p.Arg1576His Single submitter ⚠
- p.Arg1595His Single submitter ⚠
- p.Arg1745= Single submitter
- p.Arg1751Trp Single submitter ⚠
- p.Arg1756Gln Single submitter ⚠
- p.Arg179Leu Single submitter ⚠
- p.Arg1922Gln Single submitter ⚠
- p.Arg1934Gln Single submitter ⚠
- p.Arg1934Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1958Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1958Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1960His Single submitter Inborn genetic diseases ⚠
- p.Arg1968Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1968Leu Single submitter ⚠
- p.Arg1977Gln Single submitter ⚠
- p.Arg1977Trp Single submitter
- p.Arg1982Cys Single submitter ⚠
- p.Arg1982Leu Single submitter ⚠
- p.Arg1986Gln Single submitter ⚠
- p.Arg2007Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2021Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2021Trp Single submitter
- p.Arg2043Gln Single submitter ⚠
- p.Arg2058Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2058Pro Single submitter Inborn genetic diseases ⚠
- p.Arg2139His Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg2188Gln Single submitter ⚠
- p.Arg2188Trp Single submitter ⚠
- p.Arg2200Gln Single submitter ⚠
- p.Arg2226His Single submitter ⚠
- p.Arg2250Cys Single submitter ⚠
- p.Arg2250His Single submitter ⚠
- p.Arg226Trp Single submitter ⚠
- p.Arg2273His Single submitter ⚠
- p.Arg2277Gln Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Arg2334Gln Single submitter ⚠
- p.Arg2337Trp Single submitter ⚠
- p.Arg2347His Single submitter ⚠
- p.Arg235Gln Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg2360Cys Single submitter ⚠
- p.Arg2360His Single submitter ⚠
- p.Arg2360Ser Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg355Thr Single submitter ⚠
- p.Arg399del Single submitter
- p.Arg399Gly Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg435Gln Single submitter ⚠
- p.Arg474Gln Single submitter ⚠
- p.Arg478Thr Single submitter ⚠
- p.Arg507Gln Single submitter Inborn genetic diseases ⚠
- p.Arg543Gly Single submitter ⚠
- p.Arg556Trp Single submitter ⚠
- p.Arg569Thr Single submitter Inborn genetic diseases ⚠
- p.Arg572Gln Single submitter ⚠
- p.Arg576_Pro598del Single submitter
- p.Arg582Trp Single submitter ⚠
- p.Arg586Lys Single submitter ⚠
- p.Arg625Thr Single submitter ⚠
- p.Arg631Gln Single submitter ⚠
- p.Arg631Leu Single submitter Inborn genetic diseases ⚠
- p.Arg654Gln Single submitter ⚠
- p.Arg727Trp Single submitter Inborn genetic diseases ⚠
- p.Arg741Gln Single submitter ⚠
- p.Arg751Trp Single submitter ⚠
- p.Arg769Lys Single submitter ⚠
- p.Arg779Gly Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg788Gln Single submitter ⚠
- p.Arg792Lys Single submitter ⚠
- p.Arg851Gln Single submitter ⚠
- p.Arg851Trp Single submitter ⚠
- p.Arg899Gly Single submitter autosomal recessive nonsyndromic hearing loss 28 ⚠
- p.Arg899His Single submitter ⚠
- p.Arg912Gln Single submitter ⚠
- p.Arg912Trp Single submitter ⚠
- p.Arg920Gln Single submitter Inborn genetic diseases ⚠
- p.Arg990Gln Single submitter ⚠
- p.Asn2041Ser Single submitter Inborn genetic diseases ⚠
- p.Asn338Asp Single submitter ⚠
- p.Asn394Lys Single submitter ⚠
- p.Asn607Asp Single submitter ⚠
- p.Asn623Asp Single submitter ⚠
- p.Asn664Ser Single submitter ⚠
- p.Asn695Ser Single submitter ⚠
- p.Asn767fs Single submitter hearing loss disorder
- p.Asn890Asp Single submitter ⚠
- p.Asp1222His Single submitter Inborn genetic diseases ⚠
- p.Asp1275Asn Single submitter ⚠
- p.Asp145Asn Single submitter ⚠
- p.Asp2017His Single submitter hearing loss disorder ⚠
- p.Asp2185Gly Single submitter ⚠
- p.Asp386Ala Single submitter ⚠
- p.Asp387His Single submitter ⚠
- p.Asp534Asn Single submitter ⚠
- p.Asp622Tyr Single submitter ⚠
- p.Asp657Asn Single submitter ⚠
- p.Asp917His Single submitter ⚠
- p.Cys1098Tyr Single submitter ⚠
- p.Cys2280Trp Single submitter ⚠
- p.Cys26Ser Single submitter ⚠
- p.Cys676Arg Single submitter ⚠