SYNJ2 — 249 ClinVar variants
All ClinVar germline SYNJ2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →
2 Benign · 18 Likely benign · 229 Uncertain significance
Full SYNJ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 212
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 lean, ClinVar uncertain 172
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 172
- SYNJ2 p.Asp1071Glu Uncertain significance Multiple submitters
- SYNJ2 p.Ala1072Thr Uncertain significance Single submitter
- SYNJ2 p.Ala111Asp Uncertain significance Single submitter
- SYNJ2 p.Ala1186Thr Uncertain significance Single submitter
- SYNJ2 p.Ala1199Thr Uncertain significance Single submitter
- SYNJ2 p.Ala1274Gly Uncertain significance Single submitter
- SYNJ2 p.Ala1298Ser Uncertain significance Single submitter
- SYNJ2 p.Ala1317Gly Uncertain significance Single submitter
- SYNJ2 p.Ala1389Val Uncertain significance Single submitter
- SYNJ2 p.Ala1456Thr Uncertain significance Single submitter
- SYNJ2 p.Ala281Asp Uncertain significance Single submitter
- SYNJ2 p.Ala327Thr Uncertain significance Single submitter
- SYNJ2 p.Ala341Thr Uncertain significance Single submitter
- SYNJ2 p.Ala401Val Uncertain significance Single submitter
- SYNJ2 p.Ala506Val Uncertain significance Single submitter
- SYNJ2 p.Ala516Val Uncertain significance Single submitter
- SYNJ2 p.Ala688Pro Uncertain significance Single submitter
- SYNJ2 p.Ala799Thr Uncertain significance Single submitter
- SYNJ2 p.Ala841Thr Uncertain significance Single submitter
- SYNJ2 p.Ala986Asp Uncertain significance Single submitter
- SYNJ2 p.Arg1156Trp Uncertain significance Single submitter
- SYNJ2 p.Arg116Cys Uncertain significance Single submitter
- SYNJ2 p.Arg1181Gln Uncertain significance Single submitter
- SYNJ2 p.Arg1229His Uncertain significance Single submitter
- SYNJ2 p.Arg1230Gln Uncertain significance Single submitter
- SYNJ2 p.Arg139Cys Uncertain significance Single submitter
- SYNJ2 p.Arg145Cys Uncertain significance Single submitter
- SYNJ2 p.Arg145His Uncertain significance Single submitter
- SYNJ2 p.Arg208His Uncertain significance Single submitter
- SYNJ2 p.Arg213His Uncertain significance Single submitter
- SYNJ2 p.Arg376Cys Uncertain significance Single submitter
- SYNJ2 p.Arg383Gln Uncertain significance Single submitter
- SYNJ2 p.Arg462Pro Uncertain significance Single submitter
-
SYNJ2 p.Arg546Gln
Uncertain significance
Single submitter
Meniere disease
- SYNJ2 p.Arg696Pro Uncertain significance Single submitter
- SYNJ2 p.Arg796Cys Uncertain significance Single submitter
- SYNJ2 p.Arg847Cys Uncertain significance Single submitter
- SYNJ2 p.Arg874Pro Uncertain significance Single submitter
- SYNJ2 p.Arg980Gln Uncertain significance Single submitter
- SYNJ2 p.Arg980Trp Uncertain significance Single submitter
- SYNJ2 p.Arg982Gln Uncertain significance Single submitter
- SYNJ2 p.Asn158Asp Uncertain significance Single submitter
- SYNJ2 p.Asn595Ser Uncertain significance Single submitter
- SYNJ2 p.Asn821Ser Uncertain significance Single submitter
- SYNJ2 p.Asn993Thr Uncertain significance Single submitter
- SYNJ2 p.Asp1018Asn Uncertain significance Single submitter
- SYNJ2 p.Asp1020Gly Uncertain significance Single submitter
- SYNJ2 p.Asp1024Asn Uncertain significance Single submitter
- SYNJ2 p.Asp1040Asn Uncertain significance Single submitter
- SYNJ2 p.Asp1202Glu Uncertain significance Single submitter
- SYNJ2 p.Asp179Asn Uncertain significance Single submitter
- SYNJ2 p.Asp18Tyr Uncertain significance Single submitter
- SYNJ2 p.Asp561Glu Uncertain significance Single submitter
- SYNJ2 p.Asp570Asn Uncertain significance Single submitter
- SYNJ2 p.Asp652Asn Uncertain significance Single submitter
- SYNJ2 p.Asp726Asn Uncertain significance Single submitter
- SYNJ2 p.Asp790Asn Uncertain significance Single submitter
- SYNJ2 p.Asp790Glu Uncertain significance Single submitter
- SYNJ2 p.Asp824Gly Uncertain significance Single submitter
- SYNJ2 p.Asp93Gly Uncertain significance Single submitter
- SYNJ2 p.Asp983Tyr Uncertain significance Single submitter
- SYNJ2 p.Cys177Ser Uncertain significance Single submitter
- SYNJ2 p.Cys178Arg Uncertain significance Single submitter
- SYNJ2 p.Cys63Ser Uncertain significance Single submitter
- SYNJ2 p.Cys708Tyr Uncertain significance Single submitter
- SYNJ2 p.Gln108His Uncertain significance Single submitter
- SYNJ2 p.Gln1259His Uncertain significance Single submitter
- SYNJ2 p.Gln1293Arg Uncertain significance Single submitter
- SYNJ2 p.Gln1488Arg Uncertain significance Single submitter
- SYNJ2 p.Gln297His Uncertain significance Single submitter
- SYNJ2 p.Gln917Arg Uncertain significance Single submitter
- SYNJ2 p.Glu114Lys Uncertain significance Single submitter
- SYNJ2 p.Glu1210Ala Uncertain significance Single submitter
- SYNJ2 p.Glu1219Lys Uncertain significance Single submitter
- SYNJ2 p.Glu155Gln Uncertain significance Single submitter
- SYNJ2 p.Glu771Gly Uncertain significance Single submitter
- SYNJ2 p.Gly1038Arg Uncertain significance Single submitter
- SYNJ2 p.Gly1085Arg Uncertain significance Single submitter
- SYNJ2 p.Gly1116Ser Uncertain significance Single submitter
- SYNJ2 p.Gly1131Ser Uncertain significance Single submitter
- SYNJ2 p.Gly1266Arg Uncertain significance Single submitter
- SYNJ2 p.Gly1266Glu Uncertain significance Single submitter
-
SYNJ2 p.Gly187Arg
Uncertain significance
Single submitter
Meniere disease
- SYNJ2 p.Gly253Ser Uncertain significance Single submitter
- SYNJ2 p.Gly370Trp Uncertain significance Single submitter
- SYNJ2 p.Gly659Arg Uncertain significance Single submitter
- SYNJ2 p.Gly689Arg Uncertain significance Single submitter
- SYNJ2 p.Gly785Ser Uncertain significance Single submitter
- SYNJ2 p.Gly818Glu Uncertain significance Single submitter
- SYNJ2 p.His1345Gln Uncertain significance Single submitter
- SYNJ2 p.His270Pro Uncertain significance Single submitter
- SYNJ2 p.His718Arg Uncertain significance Single submitter
- SYNJ2 p.Ile1478Val Uncertain significance Single submitter
- SYNJ2 p.Leu1077Phe Uncertain significance Single submitter
- SYNJ2 p.Leu10Arg Uncertain significance Single submitter
- SYNJ2 p.Leu1195Arg Uncertain significance Single submitter
- SYNJ2 p.Leu1226Ile Uncertain significance Single submitter
- SYNJ2 p.Leu1356Phe Uncertain significance Single submitter
- SYNJ2 p.Leu257Val Uncertain significance Single submitter
- SYNJ2 p.Leu42Pro Uncertain significance Single submitter
- SYNJ2 p.Leu686Arg Uncertain significance Single submitter
- SYNJ2 p.Leu686Val Uncertain significance Single submitter
- SYNJ2 p.Leu842Pro Uncertain significance Single submitter
- SYNJ2 p.Lys1445Arg Uncertain significance Single submitter
- SYNJ2 p.Lys199Gln Uncertain significance Single submitter
- SYNJ2 p.Lys292Asn Uncertain significance Single submitter
- SYNJ2 p.Lys410Arg Uncertain significance Single submitter
- SYNJ2 p.Lys477Arg Uncertain significance Single submitter
- SYNJ2 p.Met241Val Uncertain significance Single submitter
- SYNJ2 p.Met332Val Uncertain significance Single submitter
- SYNJ2 p.Met534Leu Uncertain significance Single submitter
- SYNJ2 p.Phe317Val Uncertain significance Single submitter
- SYNJ2 p.Phe364Val Uncertain significance Single submitter
- SYNJ2 p.Pro1029Ser Uncertain significance Single submitter
- SYNJ2 p.Pro1112Ala Uncertain significance Single submitter
- SYNJ2 p.Pro1112His Uncertain significance Single submitter
- SYNJ2 p.Pro1113Ala Uncertain significance Single submitter
- SYNJ2 p.Pro1113Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1153Ser Uncertain significance Single submitter
- SYNJ2 p.Pro1213Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1224Ser Uncertain significance Single submitter
- SYNJ2 p.Pro1249Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1252Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1284Arg Uncertain significance Single submitter
- SYNJ2 p.Pro1326Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1330Ala Uncertain significance Single submitter
- SYNJ2 p.Pro1330Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1334Ala Uncertain significance Single submitter
- SYNJ2 p.Pro1372Ser Uncertain significance Single submitter
- SYNJ2 p.Pro1464Leu Uncertain significance Single submitter
- SYNJ2 p.Pro1492Leu Uncertain significance Single submitter
- SYNJ2 p.Pro812Leu Uncertain significance Single submitter
- SYNJ2 p.Ser1271Asn Uncertain significance Single submitter
- SYNJ2 p.Ser1364Gly Uncertain significance Single submitter
- SYNJ2 p.Ser4Gly Uncertain significance Single submitter
- SYNJ2 p.Ser566Leu Uncertain significance Single submitter
- SYNJ2 p.Ser575Gly Uncertain significance Single submitter
- SYNJ2 p.Ser592Asn Uncertain significance Single submitter
- SYNJ2 p.Ser77Arg Uncertain significance Single submitter
- SYNJ2 p.Ser853Pro Uncertain significance Single submitter
- SYNJ2 p.Ser947Arg Uncertain significance Single submitter
- SYNJ2 p.Thr102Ile Uncertain significance Single submitter
- SYNJ2 p.Thr1048Lys Uncertain significance Single submitter
- SYNJ2 p.Thr1115Ile Uncertain significance Single submitter
- SYNJ2 p.Thr1441Ala Uncertain significance Single submitter
- SYNJ2 p.Thr1471Ser Uncertain significance Single submitter
- SYNJ2 p.Thr41Met Uncertain significance Single submitter
- SYNJ2 p.Thr505Ala Uncertain significance Single submitter
- SYNJ2 p.Thr653Ser Uncertain significance Single submitter
- SYNJ2 p.Thr704Ala Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- SYNJ2 p.Ala447Thr Uncertain significance Single submitter
- SYNJ2 p.Ala848Val Uncertain significance Single submitter
- SYNJ2 p.Ala860Val Uncertain significance Single submitter
- SYNJ2 p.Arg1103Trp Uncertain significance Single submitter
- SYNJ2 p.Arg217His Uncertain significance Single submitter
- SYNJ2 p.Arg221His Uncertain significance Single submitter
- SYNJ2 p.Arg26Gly Uncertain significance Single submitter
- SYNJ2 p.Arg462Trp Uncertain significance Single submitter
- SYNJ2 p.Arg466Gln Uncertain significance Single submitter
- SYNJ2 p.Arg520His Uncertain significance Single submitter
- SYNJ2 p.Arg531Gln Uncertain significance Single submitter
- SYNJ2 p.Arg531Trp Uncertain significance Single submitter
- SYNJ2 p.Arg744Cys Uncertain significance Single submitter
- SYNJ2 p.Arg874Gln Uncertain significance Single submitter
- SYNJ2 p.Asp1007Glu Uncertain significance Single submitter
- SYNJ2 p.Asp1013Val Uncertain significance Single submitter
- SYNJ2 p.Asp285Asn Uncertain significance Single submitter
- SYNJ2 p.Gln544Pro Uncertain significance Single submitter
- SYNJ2 p.Glu1175Gly Uncertain significance Single submitter
- SYNJ2 p.Glu310Asp Uncertain significance Single submitter
- SYNJ2 p.Glu865Lys Uncertain significance Single submitter
- SYNJ2 p.Gly137Arg Uncertain significance Single submitter
- SYNJ2 p.His1345Pro Uncertain significance Single submitter
- SYNJ2 p.His835Asp Uncertain significance Single submitter
- SYNJ2 p.Ile682Thr Uncertain significance Single submitter
- SYNJ2 p.Leu69Gln Uncertain significance Single submitter
- SYNJ2 p.Leu707Phe Uncertain significance Single submitter
- SYNJ2 p.Lys456Asn Uncertain significance Single submitter
- SYNJ2 p.Lys706Gln Uncertain significance Single submitter
- SYNJ2 p.Met658Ile Uncertain significance Single submitter
- SYNJ2 p.Phe1003Cys Uncertain significance Single submitter
- SYNJ2 p.Pro1108Ser Uncertain significance Single submitter
- SYNJ2 p.Pro511Ser Uncertain significance Single submitter
- SYNJ2 p.Ser20Arg Uncertain significance Single submitter
- SYNJ2 p.Ser77Gly Uncertain significance Single submitter
- SYNJ2 p.Thr1170Ile Uncertain significance Single submitter
- SYNJ2 p.Tyr295His Uncertain significance Single submitter
- SYNJ2 p.Val804Leu Uncertain significance Single submitter
- SYNJ2 p.Val881Leu Uncertain significance Single submitter
-
SYNJ2 p.Ala60Val
Uncertain significance
No assertion criteria
Meniere disease
All SYNJ2 variants
Benign 2
- c.1127+10G>A Single submitter
- p.Val1377Ile Single submitter
Likely benign 18
- p.Val420Ala Multiple submitters
- c.1717+3G>A Single submitter
- p.Ala1223Val Single submitter
- p.Ala1280Val Single submitter
- p.Ala1325Val Single submitter
- p.Ala1374Thr Single submitter
- p.Ala848= Single submitter
- p.Arg1282Gln Single submitter
- p.Arg975Gln Single submitter
- p.Asn1027Ser Single submitter
- p.Asp1450Ala Single submitter
- p.Leu560= Single submitter
- p.Leu915= Single submitter
- p.Phe1292Leu Single submitter
- p.Pro1102= Single submitter
- p.Pro1334= Single submitter
- p.Pro640= Single submitter
- p.Val209Ile Single submitter
Uncertain significance 229
- p.Asp1071Glu Multiple submitters ⚠
- c.188_214+37dup Single submitter
- p.Ala1072Thr Single submitter ⚠
- p.Ala111Asp Single submitter ⚠
- p.Ala1186Thr Single submitter ⚠
- p.Ala1199Thr Single submitter ⚠
- p.Ala1274Gly Single submitter ⚠
- p.Ala1298Ser Single submitter ⚠
- p.Ala1317Gly Single submitter ⚠
- p.Ala1389Val Single submitter ⚠
- p.Ala1456Thr Single submitter ⚠
- p.Ala281Asp Single submitter ⚠
- p.Ala281Val Single submitter
- p.Ala327Thr Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala401Val Single submitter ⚠
- p.Ala447Thr Single submitter ⚠
- p.Ala506Val Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Ala593Ser Single submitter
- p.Ala593Thr Single submitter
- p.Ala688Pro Single submitter ⚠
- p.Ala799Thr Single submitter ⚠
- p.Ala841Thr Single submitter ⚠
- p.Ala848Val Single submitter ⚠
- p.Ala860Val Single submitter ⚠
- p.Ala986Asp Single submitter ⚠
- p.Arg1103Trp Single submitter ⚠
- p.Arg1156Trp Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg1181Gln Single submitter ⚠
- p.Arg1229His Single submitter ⚠
- p.Arg1230Gln Single submitter ⚠
- p.Arg139Cys Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg208His Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg217His Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg26Gly Single submitter ⚠
- p.Arg376Cys Single submitter ⚠
- p.Arg383Gln Single submitter ⚠
- p.Arg422His Single submitter
- p.Arg462Pro Single submitter ⚠
- p.Arg462Trp Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg520His Single submitter ⚠
- p.Arg531Gln Single submitter ⚠
- p.Arg531Trp Single submitter ⚠
- p.Arg546Gln Single submitter Meniere disease ⚠
- p.Arg696Pro Single submitter ⚠
- p.Arg744Cys Single submitter ⚠
- p.Arg796Cys Single submitter ⚠
- p.Arg847Cys Single submitter ⚠
- p.Arg874Gln Single submitter ⚠
- p.Arg874Pro Single submitter ⚠
- p.Arg90Gly Single submitter
- p.Arg980Gln Single submitter ⚠
- p.Arg980Trp Single submitter ⚠
- p.Arg982Gln Single submitter ⚠
- p.Asn158Asp Single submitter ⚠
- p.Asn302Ser Single submitter
- p.Asn595Ser Single submitter ⚠
- p.Asn821Ser Single submitter ⚠
- p.Asn993Ile Single submitter
- p.Asn993Thr Single submitter ⚠
- p.Asp1007Glu Single submitter ⚠
- p.Asp1013Val Single submitter ⚠
- p.Asp1018Asn Single submitter ⚠
- p.Asp1020Gly Single submitter ⚠
- p.Asp1024Asn Single submitter ⚠
- p.Asp1040Asn Single submitter ⚠
- p.Asp1202Glu Single submitter ⚠
- p.Asp179Asn Single submitter ⚠
- p.Asp18Tyr Single submitter ⚠
- p.Asp285Asn Single submitter ⚠
- p.Asp561Glu Single submitter ⚠
- p.Asp570Asn Single submitter ⚠
- p.Asp652Asn Single submitter ⚠
- p.Asp726Asn Single submitter ⚠
- p.Asp790Asn Single submitter ⚠
- p.Asp790Glu Single submitter ⚠
- p.Asp824Gly Single submitter ⚠
- p.Asp93Gly Single submitter ⚠
- p.Asp983Tyr Single submitter ⚠
- p.Cys177Ser Single submitter ⚠
- p.Cys178Arg Single submitter ⚠
- p.Cys63Ser Single submitter ⚠
- p.Cys708Tyr Single submitter ⚠
- p.Gln108His Single submitter ⚠
- p.Gln1259His Single submitter ⚠
- p.Gln1293Arg Single submitter ⚠
- p.Gln1488Arg Single submitter ⚠
- p.Gln297His Single submitter ⚠
- p.Gln544Pro Single submitter ⚠
- p.Gln917Arg Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu1175Gly Single submitter ⚠
- p.Glu1210Ala Single submitter ⚠
- p.Glu1219Lys Single submitter ⚠
- p.Glu155Gln Single submitter ⚠
- p.Glu310Asp Single submitter ⚠
- p.Glu771Gly Single submitter ⚠
- p.Glu865Lys Single submitter ⚠
- p.Gly1038Arg Single submitter ⚠
- p.Gly1085Arg Single submitter ⚠
- p.Gly1116Ser Single submitter ⚠
- p.Gly1131Ser Single submitter ⚠
- p.Gly1266Arg Single submitter ⚠
- p.Gly1266Glu Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly187Arg Single submitter Meniere disease ⚠
- p.Gly253Ser Single submitter ⚠
- p.Gly309Arg Single submitter
- p.Gly370Trp Single submitter ⚠
- p.Gly659Arg Single submitter ⚠
- p.Gly689Arg Single submitter ⚠
- p.Gly785Ser Single submitter ⚠
- p.Gly818Glu Single submitter ⚠
- p.His1345Gln Single submitter ⚠
- p.His1345Pro Single submitter ⚠
- p.His270Pro Single submitter ⚠
- p.His718Arg Single submitter ⚠
- p.His835Asp Single submitter ⚠
- p.Ile1168Val Single submitter
- p.Ile1478Val Single submitter ⚠
- p.Ile682Thr Single submitter ⚠
- p.Leu1077Phe Single submitter ⚠
- p.Leu107Phe Single submitter
- p.Leu10Arg Single submitter ⚠
- p.Leu1195Arg Single submitter ⚠
- p.Leu1226Ile Single submitter ⚠
- p.Leu1356Phe Single submitter ⚠
- p.Leu257Val Single submitter ⚠
- p.Leu42Pro Single submitter ⚠
- p.Leu686Arg Single submitter ⚠
- p.Leu686Val Single submitter ⚠
- p.Leu69Gln Single submitter ⚠
- p.Leu707Phe Single submitter ⚠
- p.Leu842Pro Single submitter ⚠
- p.Lys1445Arg Single submitter ⚠
- p.Lys199Gln Single submitter ⚠
- p.Lys292Asn Single submitter ⚠
- p.Lys410Arg Single submitter ⚠
- p.Lys456Asn Single submitter ⚠
- p.Lys477Arg Single submitter ⚠
- p.Lys706Gln Single submitter ⚠
- p.Met241Val Single submitter ⚠
- p.Met332Val Single submitter ⚠
- p.Met534Leu Single submitter ⚠
- p.Met658Ile Single submitter ⚠
- p.Phe1003Cys Single submitter ⚠
- p.Phe317Val Single submitter ⚠
- p.Phe364Val Single submitter ⚠
- p.Pro1029Ser Single submitter ⚠
- p.Pro1108Ser Single submitter ⚠
- p.Pro1112Ala Single submitter ⚠
- p.Pro1112His Single submitter ⚠
- p.Pro1113Ala Single submitter ⚠
- p.Pro1113Leu Single submitter ⚠
- p.Pro1113Thr Single submitter
- p.Pro1153Ser Single submitter ⚠
- p.Pro1213Leu Single submitter ⚠
- p.Pro1224Ser Single submitter ⚠
- p.Pro1249Leu Single submitter ⚠
- p.Pro1252Leu Single submitter ⚠
- p.Pro1284Arg Single submitter ⚠
- p.Pro1326Leu Single submitter ⚠
- p.Pro1330Ala Single submitter ⚠
- p.Pro1330Leu Single submitter ⚠
- p.Pro1334Ala Single submitter ⚠
- p.Pro1372Ser Single submitter ⚠
- p.Pro1464Leu Single submitter ⚠
- p.Pro1492Leu Single submitter ⚠
- p.Pro282Leu Single submitter
- p.Pro511Ser Single submitter ⚠
- p.Pro812Leu Single submitter ⚠
- p.Pro965Leu Single submitter
- p.Ser1271Asn Single submitter ⚠
- p.Ser1364Gly Single submitter ⚠
- p.Ser20Arg Single submitter ⚠
- p.Ser4Gly Single submitter ⚠
- p.Ser566Leu Single submitter ⚠
- p.Ser575Gly Single submitter ⚠
- p.Ser592Asn Single submitter ⚠
- p.Ser77Arg Single submitter ⚠
- p.Ser77Gly Single submitter ⚠
- p.Ser853Pro Single submitter ⚠
- p.Ser947Arg Single submitter ⚠
- p.Thr102Ile Single submitter ⚠
- p.Thr1048Lys Single submitter ⚠
- p.Thr1115Ile Single submitter ⚠
- p.Thr1170Ile Single submitter ⚠
- p.Thr1441Ala Single submitter ⚠
- p.Thr1471Ser Single submitter ⚠
- p.Thr41Met Single submitter ⚠
- p.Thr505Ala Single submitter ⚠
- p.Thr653Ser Single submitter ⚠
- p.Thr687Met Single submitter
- p.Thr704Ala Single submitter ⚠
- p.Thr74Met Single submitter ⚠
- p.Thr816Ile Single submitter ⚠
- p.Thr913Ile Single submitter ⚠
- p.Thr938Ile Single submitter ⚠
- p.Tyr295His Single submitter ⚠
- p.Tyr490Cys Single submitter ⚠
- p.Tyr61Asn Single submitter ⚠
- p.Val1119Met Single submitter ⚠
- p.Val1272Ile Single submitter ⚠
- p.Val1278Met Single submitter ⚠
- p.Val128Ala Single submitter ⚠
- p.Val168Leu Single submitter ⚠
- p.Val255Ile Single submitter ⚠
- p.Val299Met Single submitter
- p.Val373Ile Single submitter ⚠
- p.Val454Ala Single submitter ⚠
- p.Val476Met Single submitter ⚠
- p.Val489Phe Single submitter ⚠
- p.Val668Ile Single submitter ⚠
- p.Val784Ile Single submitter ⚠
- p.Val804Leu Single submitter ⚠
- p.Val833Ile Single submitter ⚠
- p.Val833Leu Single submitter ⚠
- p.Val881Leu Single submitter ⚠
- p.Val951Met Single submitter ⚠
- p.Val988Leu Single submitter ⚠
- p.Ala60Val No assertion criteria Meniere disease ⚠
- p.Val301Met No assertion criteria Meniere disease