MTMR3 — 150 ClinVar variants

All ClinVar germline MTMR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

1 Benign · 5 Likely benign · 144 Uncertain significance

Full MTMR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 115

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

Predictors split 17

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

All MTMR3 variants

Benign 1

c.*1670C>T Multiple submitters

Likely benign 5

p.Arg797Gln Single submitter
p.Gly284Ala Single submitter
p.His1179Arg Single submitter
p.Leu504= Single submitter
p.Phe292= Single submitter

Uncertain significance 144

p.Arg607Trp Multiple submitters myopathy, proximal, and ophthalmoplegia ⚠
p.Ala1123Thr Single submitter ⚠
p.Ala117Pro Single submitter ⚠
p.Ala558Thr Single submitter ⚠
p.Ala628Val Single submitter ⚠
p.Ala816Gly Single submitter ⚠
p.Ala816Thr Single submitter ⚠
p.Ala982Val Single submitter ⚠
p.Arg1012Cys Single submitter ⚠
p.Arg1012His Single submitter ⚠
p.Arg1030His Single submitter ⚠
p.Arg1115His Single submitter
p.Arg1115Ser Single submitter ⚠
p.Arg177Lys Single submitter ⚠
p.Arg266Leu Single submitter ⚠
p.Arg275Ser Single submitter ⚠
p.Arg47Leu Single submitter
p.Arg541Gln Single submitter ⚠
p.Arg645Trp Single submitter ⚠
p.Arg646Cys Single submitter ⚠
p.Arg646His Single submitter ⚠
p.Arg6Trp Single submitter ⚠
p.Arg797Leu Single submitter ⚠
p.Arg972Cys Single submitter ⚠
p.Asn116Ser Single submitter ⚠
p.Asn1198Ser Single submitter ⚠
p.Asn283Ser Single submitter ⚠
p.Asn497Ser Single submitter ⚠
p.Asn520Thr Single submitter ⚠
p.Asn544His Single submitter
p.Asn57Ser Single submitter ⚠
p.Asn70His Single submitter ⚠
p.Asn929Ile Single submitter ⚠
p.Asn929Ser Single submitter ⚠
p.Asn955His Single submitter ⚠
p.Asn955Ser Single submitter ⚠
p.Asp1008Asn Single submitter ⚠
p.Asp1080Tyr Single submitter ⚠
p.Asp1129Asn Single submitter ⚠
p.Asp264Gly Single submitter
p.Asp418Asn Single submitter ⚠
p.Asp664Asn Single submitter ⚠
p.Asp742Tyr Single submitter ⚠
p.Asp747Gly Single submitter ⚠
p.Asp852Glu Single submitter ⚠
p.Cys1093Tyr Single submitter
p.Cys91Arg Single submitter ⚠
p.Gln1059Leu Single submitter ⚠
p.Gln146Arg Single submitter ⚠
p.Gln255His Single submitter ⚠
p.Gln310Arg Single submitter ⚠
p.Gln368His Single submitter ⚠
p.Gln642Arg Single submitter ⚠
p.Gln694Lys Single submitter ⚠
p.Gln861Arg Single submitter ⚠
p.Glu291Asp Single submitter ⚠
p.Glu49Lys Single submitter ⚠
p.Glu677Lys Single submitter ⚠
p.Glu803Val Single submitter ⚠
p.Glu836Asp Single submitter ⚠
p.Glu940Gly Single submitter ⚠
p.Gly269Ser Single submitter ⚠
p.Gly657Glu Single submitter ⚠
p.Gly683Arg Single submitter
p.Gly771Arg Single submitter ⚠
p.Gly944Arg Single submitter ⚠
p.Gly961Glu Single submitter ⚠
p.Gly964Asp Single submitter ⚠
p.His1066Asn Single submitter ⚠
p.His1179Tyr Single submitter ⚠
p.His133Arg Single submitter ⚠
p.His740Gln Single submitter ⚠
p.His864Leu Single submitter ⚠
p.His985Asp Single submitter ⚠
p.His990Asp Single submitter ⚠
p.His995Gln Single submitter ⚠
p.Ile1078Val Single submitter ⚠
p.Ile12Val Single submitter ⚠
p.Ile307Ser Single submitter ⚠
p.Ile355Val Single submitter ⚠
p.Ile438Val Single submitter ⚠
p.Ile712Val Single submitter ⚠
p.Ile84Val Single submitter ⚠
p.Leu1164His Single submitter ⚠
p.Leu127Val Single submitter ⚠
p.Leu287Val Single submitter ⚠
p.Leu571Pro Single submitter ⚠
p.Leu577Val Single submitter ⚠
p.Leu605Val Single submitter ⚠
p.Leu722Phe Single submitter ⚠
p.Leu722Val Single submitter ⚠
p.Leu760Val Single submitter ⚠
p.Leu948Phe Single submitter ⚠
p.Lys1108Glu Single submitter
p.Lys1138Arg Single submitter ⚠
p.Lys1172Thr Single submitter
p.Lys853Asn Single submitter ⚠
p.Lys95Arg Single submitter ⚠
p.Met1020Leu Single submitter ⚠
p.Phe761Leu Single submitter ⚠
p.Pro1010Ser Single submitter ⚠
p.Pro1167His Single submitter ⚠
p.Pro1180Arg Single submitter ⚠
p.Pro121Leu Single submitter ⚠
p.Pro309Leu Single submitter ⚠
p.Pro578Ser Single submitter
p.Pro721Ser Single submitter ⚠
p.Pro782Arg Single submitter ⚠
p.Pro782Ser Single submitter ⚠
p.Pro783Leu Single submitter ⚠
p.Pro783Ser Single submitter ⚠
p.Pro882Leu Single submitter ⚠
p.Pro884Ala Single submitter ⚠
p.Pro884fs Single submitter
p.Pro893His Single submitter ⚠
p.Pro932Ser Single submitter ⚠
p.Ser214Ala Single submitter ⚠
p.Ser214Phe Single submitter ⚠
p.Ser267Leu Single submitter ⚠
p.Ser662Cys Single submitter ⚠
p.Ser788Phe Single submitter ⚠
p.Ser844Asn Single submitter ⚠
p.Ser844Gly Single submitter ⚠
p.Ser845Tyr Single submitter ⚠
p.Ser885Pro Single submitter ⚠
p.Ser888Asn Single submitter ⚠
p.Ser966Ile Single submitter ⚠
p.Ser980Thr Single submitter ⚠
p.Thr1026Met Single submitter ⚠
p.Thr1111Ala Single submitter ⚠
p.Thr583Ala Single submitter ⚠
p.Thr697Ala Single submitter ⚠
p.Thr846Ala Single submitter ⚠
p.Trp641Cys Single submitter ⚠
p.Tyr576Cys Single submitter ⚠
p.Tyr951His Single submitter ⚠
p.Val1042Ala Single submitter
p.Val680Ala Single submitter
p.Val69Leu Single submitter ⚠
p.Val703Glu Single submitter ⚠
p.Val781Leu Single submitter ⚠
p.Val793Met Single submitter ⚠
p.Val869Leu Single submitter ⚠
p.Val895Met Single submitter ⚠