MAS1 — 54 ClinVar variants
All ClinVar germline MAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Likely benign · 53 Uncertain significance
Full MAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAS1 p.Ala275Thr Uncertain significance Single submitter
- MAS1 p.Arg141Gln Uncertain significance Single submitter
- MAS1 p.Arg181Gln Uncertain significance Single submitter
- MAS1 p.Arg181Trp Uncertain significance Single submitter
- MAS1 p.Arg185Gln Uncertain significance Single submitter
- MAS1 p.Arg215Gln Uncertain significance Single submitter
- MAS1 p.Arg290Lys Uncertain significance Single submitter
- MAS1 p.Arg311Cys Uncertain significance Single submitter
- MAS1 p.Arg62Ile Uncertain significance Single submitter
- MAS1 p.Asn217Ser Uncertain significance Single submitter
- MAS1 p.Asp173Asn Uncertain significance Single submitter
- MAS1 p.Asp305Asn Uncertain significance Single submitter
- MAS1 p.Glu129Asp Uncertain significance Single submitter
- MAS1 p.Glu13Val Uncertain significance Single submitter
- MAS1 p.Glu96Gln Uncertain significance Single submitter
- MAS1 p.Gly284Glu Uncertain significance Single submitter
- MAS1 p.His263Arg Uncertain significance Single submitter
- MAS1 p.Ile89Thr Uncertain significance Single submitter
- MAS1 p.Leu197Val Uncertain significance Single submitter
- MAS1 p.Lys304Arg Uncertain significance Single submitter
- MAS1 p.Lys313Gln Uncertain significance Single submitter
- MAS1 p.Lys313Ile Uncertain significance Single submitter
- MAS1 p.Met170Thr Uncertain significance Single submitter
- MAS1 p.Met203Leu Uncertain significance Single submitter
- MAS1 p.Met307Arg Uncertain significance Single submitter
- MAS1 p.Met307Thr Uncertain significance Single submitter
- MAS1 p.Met40Ile Uncertain significance Single submitter
- MAS1 p.Ser178Gly Uncertain significance Single submitter
- MAS1 p.Ser180Pro Uncertain significance Single submitter
- MAS1 p.Ser273Asn Uncertain significance Single submitter
- MAS1 p.Ser99Tyr Uncertain significance Single submitter
- MAS1 p.Thr15Ser Uncertain significance Single submitter
- MAS1 p.Thr67Ala Uncertain significance Single submitter
- MAS1 p.Thr67Ser Uncertain significance Single submitter
- MAS1 p.Thr71Ala Uncertain significance Single submitter
- MAS1 p.Trp139Arg Uncertain significance Single submitter
- MAS1 p.Trp219Ser Uncertain significance Single submitter
- MAS1 p.Val187Ile Uncertain significance Single submitter
- MAS1 p.Val212Met Uncertain significance Single submitter
- MAS1 p.Val283Glu Uncertain significance Single submitter
- MAS1 p.Val321Asp Uncertain significance Single submitter
- MAS1 p.Val325Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- MAS1 p.Ala76Thr Uncertain significance Single submitter
- MAS1 p.Arg245Lys Uncertain significance Single submitter
- MAS1 p.Arg60Trp Uncertain significance Single submitter
- MAS1 p.Arg63Gly Uncertain significance Single submitter
- MAS1 p.His72Gln Uncertain significance Single submitter
- MAS1 p.Met203Val Uncertain significance Single submitter
- MAS1 p.Pro201Ser Uncertain significance Single submitter
- MAS1 p.Thr124Met Uncertain significance Single submitter
All MAS1 variants
Likely benign 1
- p.Tyr252Cys Multiple submitters
Uncertain significance 53
- p.Ala241Thr Single submitter
- p.Ala275Thr Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg245Lys Single submitter ⚠
- p.Arg290Lys Single submitter ⚠
- p.Arg311Cys Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg62Ile Single submitter ⚠
- p.Arg63Gly Single submitter ⚠
- p.Asn217Ser Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp305Asn Single submitter ⚠
- p.Glu129Asp Single submitter ⚠
- p.Glu13Val Single submitter ⚠
- p.Glu96Gln Single submitter ⚠
- p.Gly284Glu Single submitter ⚠
- p.His263Arg Single submitter ⚠
- p.His72Gln Single submitter ⚠
- p.Ile89Thr Single submitter ⚠
- p.Leu197Val Single submitter ⚠
- p.Leu53Phe Single submitter
- p.Lys304Arg Single submitter ⚠
- p.Lys313Gln Single submitter ⚠
- p.Lys313Ile Single submitter ⚠
- p.Met170Thr Single submitter ⚠
- p.Met203Leu Single submitter ⚠
- p.Met203Val Single submitter ⚠
- p.Met307Arg Single submitter ⚠
- p.Met307Thr Single submitter ⚠
- p.Met40Ile Single submitter ⚠
- p.Phe282Ser Single submitter
- p.Pro201Ser Single submitter ⚠
- p.Ser178Gly Single submitter ⚠
- p.Ser180Pro Single submitter ⚠
- p.Ser273Asn Single submitter ⚠
- p.Ser99Tyr Single submitter ⚠
- p.Thr124Met Single submitter ⚠
- p.Thr15Ser Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Thr67Ser Single submitter ⚠
- p.Thr71Ala Single submitter ⚠
- p.Trp139Arg Single submitter ⚠
- p.Trp219Ser Single submitter ⚠
- p.Val187Ile Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Val283Glu Single submitter ⚠
- p.Val321Asp Single submitter ⚠
- p.Val325Ile Single submitter ⚠