MYO3B — 224 ClinVar variants

All ClinVar germline MYO3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

5 Benign · 14 Likely benign · 205 Uncertain significance

Full MYO3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 195

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 148

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 47

The independent predictors disagree with each other — read with care.

All MYO3B variants

Benign 5

p.Ile275Val Multiple submitters
p.Pro195= Multiple submitters
c.3637-8T>C Single submitter
c.527-3T>C Single submitter
p.Gln1197Arg Single submitter

Likely benign 14

p.Ala1207= Single submitter
p.Arg1165His Single submitter
p.Arg1177His Single submitter
p.Arg127Gln Single submitter
p.Arg185His Single submitter
p.Cys1203= Single submitter
p.Gln1232= Single submitter
p.Glu1146Lys Single submitter
p.His1227= Single submitter
p.Ile1205Val Single submitter
p.Met132Val Single submitter
p.Pro1230= Single submitter
p.Ser1214= Single submitter
p.Val1163Ala Single submitter

Uncertain significance 205

p.Arg187Trp Multiple submitters
p.Ala1013Glu Single submitter ⚠
p.Ala1013Thr Single submitter ⚠
p.Ala1097Gly Single submitter ⚠
p.Ala1103Val Single submitter ⚠
p.Ala1139Thr Single submitter ⚠
p.Ala179Gly Single submitter ⚠
p.Ala215Thr Single submitter ⚠
p.Ala419Val Single submitter ⚠
p.Ala584Gly Single submitter ⚠
p.Ala676Val Single submitter ⚠
p.Ala677Val Single submitter ⚠
p.Ala682Thr Single submitter ⚠
p.Ala909Thr Single submitter ⚠
p.Ala94Val Single submitter ⚠
p.Arg1058Gln Single submitter ⚠
p.Arg1104Trp Single submitter ⚠
p.Arg1177Ser Single submitter ⚠
p.Arg1224Trp Single submitter ⚠
p.Arg127Trp Single submitter ⚠
p.Arg155Cys Single submitter ⚠
p.Arg187Gln Single submitter ⚠
p.Arg216Cys Single submitter ⚠
p.Arg281Gln Single submitter ⚠
p.Arg405His Single submitter ⚠
p.Arg567Gly Single submitter ⚠
p.Arg663Trp Single submitter ⚠
p.Arg669Cys Single submitter ⚠
p.Arg778Cys Single submitter ⚠
p.Arg800Gln Single submitter ⚠
p.Arg800Trp Single submitter ⚠
p.Arg865Lys Single submitter
p.Arg918Gln Single submitter ⚠
p.Arg918Trp Single submitter ⚠
p.Arg936Gln Single submitter ⚠
p.Arg936Pro Single submitter ⚠
p.Arg936Trp Single submitter ⚠
p.Arg955His Single submitter ⚠
p.Arg963Gln Single submitter ⚠
p.Arg972Gly Single submitter ⚠
p.Arg978His Single submitter ⚠
p.Arg989Cys Single submitter ⚠
p.Arg989His Single submitter ⚠
p.Arg990Cys Single submitter ⚠
p.Arg996Cys Single submitter ⚠
p.Asn1054His Single submitter ⚠
p.Asn1112Asp Single submitter ⚠
p.Asn1183Thr Single submitter ⚠
p.Asn530Ser Single submitter ⚠
p.Asn614Lys Single submitter ⚠
p.Asn743Tyr Single submitter ⚠
p.Asn869Asp Single submitter ⚠
p.Asn869Lys Single submitter ⚠
p.Asn960Ser Single submitter ⚠
p.Asp1034Glu Single submitter ⚠
p.Asp1102Glu Single submitter ⚠
p.Asp218Glu Single submitter ⚠
p.Asp231Val Single submitter ⚠
p.Asp346Asn Single submitter ⚠
p.Asp596Gly Single submitter ⚠
p.Asp596Val Single submitter ⚠
p.Asp627His Single submitter ⚠
p.Asp859Asn Single submitter
p.Asp941Ala Single submitter ⚠
p.Asp95Glu Single submitter ⚠
p.Asp95His Single submitter ⚠
p.Asp95Val Single submitter ⚠
p.Cys1024Tyr Single submitter ⚠
p.Cys205Tyr Single submitter ⚠
p.Cys343Ser Single submitter ⚠
p.Cys710Arg Single submitter ⚠
p.Cys819Arg Single submitter ⚠
p.Cys956Tyr Single submitter ⚠
p.Gln101Leu Single submitter ⚠
p.Gln1129Lys Single submitter ⚠
p.Gln1148Arg Single submitter ⚠
p.Gln306Leu Single submitter ⚠
p.Gln638Pro Single submitter ⚠
p.Gln730Arg Single submitter ⚠
p.Gln752His Single submitter ⚠
p.Gln76Arg Single submitter ⚠
p.Gln803His Single submitter ⚠
p.Gln929Arg Single submitter ⚠
p.Glu1116Lys Single submitter ⚠
p.Glu1320Asp Single submitter ⚠
p.Glu260Lys Single submitter ⚠
p.Glu337Lys Single submitter ⚠
p.Glu352Gln Single submitter ⚠
p.Glu444Gly Single submitter ⚠
p.Glu554Lys Single submitter ⚠
p.Glu576Gln Single submitter ⚠
p.Gly100Glu Single submitter
p.Gly1073Ala Single submitter
p.Gly112Val Single submitter ⚠
p.Gly1202Arg Single submitter ⚠
p.Gly1202Val Single submitter ⚠
p.Gly1234Arg Single submitter ⚠
p.Gly143Asp Single submitter ⚠
p.Gly540Asp Single submitter ⚠
p.Gly766Asp Single submitter ⚠
p.Gly827Glu Single submitter ⚠
p.Gly839Glu Single submitter ⚠
p.His146Arg Single submitter ⚠
p.His146Gln Single submitter ⚠
p.His240Tyr Single submitter ⚠
p.His297Asn Single submitter ⚠
p.His325Tyr Single submitter ⚠
p.His411Asn Single submitter ⚠
p.His903Leu Single submitter ⚠
p.Ile1027Val Single submitter ⚠
p.Ile203Val Single submitter
p.Ile248Asn Single submitter ⚠
p.Ile293Val Single submitter ⚠
p.Ile33Thr Single submitter ⚠
p.Ile522Arg Single submitter ⚠
p.Ile533Val Single submitter ⚠
p.Ile572Leu Single submitter ⚠
p.Ile615Met Single submitter ⚠
p.Ile615Thr Single submitter ⚠
p.Ile68Thr Single submitter ⚠
p.Ile720Thr Single submitter ⚠
p.Ile767Val Single submitter ⚠
p.Ile893Thr Single submitter ⚠
p.Ile917Val Single submitter ⚠
p.Leu104Gln Single submitter ⚠
p.Leu147Met Single submitter ⚠
p.Leu181Ile Single submitter ⚠
p.Leu236Phe Single submitter ⚠
p.Leu75Phe Single submitter ⚠
p.Leu789Met Single submitter ⚠
p.Leu817Val Single submitter ⚠
p.Lys247Arg Single submitter ⚠
p.Lys247Thr Single submitter ⚠
p.Lys261Glu Single submitter ⚠
p.Lys628Glu Single submitter ⚠
p.Lys787Glu Single submitter ⚠
p.Lys958Asn Single submitter ⚠
p.Met239Val Single submitter ⚠
p.Met423Val Single submitter ⚠
p.Met498Val Single submitter
p.Met64Thr Single submitter ⚠
p.Met760Thr Single submitter ⚠
p.Phe1011Leu Single submitter ⚠
p.Phe278Ser Single submitter ⚠
p.Phe582Cys Single submitter ⚠
p.Phe617Tyr Single submitter ⚠
p.Phe734Leu Single submitter ⚠
p.Phe8Leu Single submitter ⚠
p.Pro1136Ser Single submitter ⚠
p.Pro1228Ser Single submitter ⚠
p.Pro235His Single submitter ⚠
p.Pro241Ser Single submitter ⚠
p.Pro252Leu Single submitter
p.Pro259Gln Single submitter ⚠
p.Pro410Arg Single submitter ⚠
p.Pro788Leu Single submitter ⚠
p.Pro79Ala Single submitter ⚠
p.Pro902Leu Single submitter ⚠
p.Ser113Leu Single submitter ⚠
p.Ser1144Gly Single submitter ⚠
p.Ser1214Leu Single submitter ⚠
p.Ser1222Phe Single submitter ⚠
p.Ser1222Thr Single submitter ⚠
p.Ser283Ala Single submitter ⚠
p.Ser390Cys Single submitter ⚠
p.Ser438Thr Single submitter ⚠
p.Ser481Pro Single submitter ⚠
p.Ser489Leu Single submitter ⚠
p.Ser519Pro Single submitter ⚠
p.Ser622Phe Single submitter ⚠
p.Ser898Ile Single submitter ⚠
p.Ser905Arg Single submitter ⚠
p.Ser933Phe Single submitter ⚠
p.Ser969Cys Single submitter ⚠
p.Thr1141Ala Single submitter ⚠
p.Thr115Ser Single submitter
p.Thr1180Ile Single submitter ⚠
p.Thr194Ile Single submitter ⚠
p.Thr323Ile Single submitter ⚠
p.Thr483Ser Single submitter ⚠
p.Thr595Met Single submitter ⚠
p.Thr805Asn Single submitter ⚠
p.Thr808Ile Single submitter ⚠
p.Thr866Ala Single submitter ⚠
p.Thr980Ile Single submitter ⚠
p.Trp1036Arg Single submitter ⚠
p.Trp262Arg Single submitter ⚠
p.Trp27Arg Single submitter ⚠
p.Tyr400His Single submitter ⚠
p.Tyr535His Single submitter ⚠
p.Tyr536Cys Single submitter ⚠
p.Tyr748Cys Single submitter ⚠
p.Tyr837Asn Single submitter ⚠
p.Val1083Ile Single submitter ⚠
p.Val114Phe Single submitter ⚠
p.Val219Ile Single submitter ⚠
p.Val242Met Single submitter ⚠
p.Val284Ile Single submitter ⚠
p.Val353Phe Single submitter ⚠
p.Val41Ile Single submitter ⚠
p.Val718Met Single submitter
p.Val772Leu Single submitter ⚠
p.Val772Met Single submitter ⚠
p.Val860Met Single submitter ⚠
p.Val861Ile Single submitter ⚠