MSMO1 — 91 ClinVar variants
All ClinVar germline MSMO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 23 Benign · 1 Benign/Likely benign · 19 Likely benign · 45 Uncertain significance
Full MSMO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MSMO1 p.Ala60Gly Uncertain significance Multiple submitters
- MSMO1 p.Asn236Ser Uncertain significance Multiple submitters
- MSMO1 p.His105Gln Uncertain significance Multiple submitters
- MSMO1 p.Ile56Met Uncertain significance Multiple submitters
- MSMO1 p.Phe137Leu Uncertain significance Multiple submitters
-
MSMO1 p.Trp135Cys
Uncertain significance
Multiple submitters
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- MSMO1 p.Tyr118His Uncertain significance Multiple submitters
- MSMO1 p.Ala13Val Uncertain significance Single submitter
- MSMO1 p.Ala140Gly Uncertain significance Single submitter
- MSMO1 p.Arg220His Uncertain significance Single submitter
- MSMO1 p.Arg270Gln Uncertain significance Single submitter
- MSMO1 p.Asn279Ser Uncertain significance Single submitter
- MSMO1 p.Asn42Ile Uncertain significance Single submitter
- MSMO1 p.Asp150Val Uncertain significance Single submitter
- MSMO1 p.Asp275Asn Uncertain significance Single submitter
- MSMO1 p.Glu293Lys Uncertain significance Single submitter
- MSMO1 p.Glu5Asp Uncertain significance Single submitter
- MSMO1 p.Gly115Arg Uncertain significance Single submitter
- MSMO1 p.Gly196Ala Uncertain significance Single submitter
- MSMO1 p.His153Pro Uncertain significance Single submitter
- MSMO1 p.Ile201Thr Uncertain significance Single submitter
- MSMO1 p.Ile258Thr Uncertain significance Single submitter
- MSMO1 p.Ile75Val Uncertain significance Single submitter
- MSMO1 p.Leu193Val Uncertain significance Single submitter
- MSMO1 p.Lys290Glu Uncertain significance Single submitter
-
MSMO1 p.Phe252Val
Uncertain significance
Single submitter
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- MSMO1 p.Phe65Leu Uncertain significance Single submitter
-
MSMO1 p.Pro179Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MSMO1 p.Pro242Ala Uncertain significance Single submitter
- MSMO1 p.Ser11Arg Uncertain significance Single submitter
- MSMO1 p.Thr218Ser Uncertain significance Single submitter
- MSMO1 p.Thr274Ile Uncertain significance Single submitter
- MSMO1 p.Tyr278Cys Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- MSMO1 p.Trp52Cys Uncertain significance Multiple submitters
- MSMO1 p.Arg248Trp Uncertain significance Single submitter
- MSMO1 p.Gln48His Uncertain significance Single submitter
- MSMO1 p.Ile148Thr Uncertain significance Single submitter
- MSMO1 p.Tyr168Cys Uncertain significance Single submitter
- MSMO1 p.Val217Ala Uncertain significance Single submitter
All MSMO1 variants
Pathogenic 2
- p.Gly246Arg No assertion criteria microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- p.His173Gln No assertion criteria microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Likely pathogenic 1
- p.Tyr244Cys Single submitter Inborn genetic diseases
Benign 23
- c.256-36G>A Multiple submitters
- c.404+72C>T Multiple submitters
- c.405-85T>G Multiple submitters
- c.686+273T>C Multiple submitters
- c.686+62A>G Multiple submitters
- c.686+82G>T Multiple submitters
- c.687-39G>A Multiple submitters
- c.-31-139C>G Multiple submitters
- c.*115A>G Multiple submitters
- c.*242A>G Multiple submitters
- p.Asn124Ser Multiple submitters
- p.Gln277= Multiple submitters
- c.255+176A>C Single submitter
- c.255+196A>G Single submitter
- c.405-10dup Single submitter
- c.405-161C>T Single submitter
- c.405-297T>C Single submitter
- c.405-323T>C Single submitter
- c.532-129T>C Single submitter
- c.687-162C>A Single submitter
- c.687-208_687-207insA Single submitter
- c.-31-318C>G Single submitter
- p.Pro126Ala Single submitter
Benign/Likely benign 1
- p.Lys99Arg Multiple submitters
Likely benign 19
- p.Val204Met Multiple submitters
- c.256-4G>A Single submitter
- c.405-15A>G Single submitter
- c.405-20A>G Single submitter
- c.405-9A>G Single submitter
- c.531+15T>C Single submitter
- c.532-11G>C Single submitter
- c.532-16T>C Single submitter
- c.687-12T>C Single submitter
- p.Asn124= Single submitter
- p.Gln94= Single submitter
- p.Glu5Gln Single submitter
- p.Ile203= Single submitter
- p.Leu101= Single submitter
- p.Leu102= Single submitter
- p.Leu213= Single submitter
- p.Leu71= Single submitter
- p.Pro32= Single submitter
- p.Ser8= Single submitter
Uncertain significance 45
- p.Ala60Gly Multiple submitters ⚠
- p.Asn236Ser Multiple submitters ⚠
- p.Gly273Glu Multiple submitters
- p.His105Gln Multiple submitters ⚠
- p.Ile56Met Multiple submitters ⚠
- p.Phe137Leu Multiple submitters ⚠
- p.Trp135Cys Multiple submitters microcephaly-congenital cataract-psoriasiform dermatitis syndrome ⚠
- p.Trp52Cys Multiple submitters ⚠
- p.Tyr118His Multiple submitters ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala140Gly Single submitter ⚠
- p.Ala178Thr Single submitter
- p.Arg220His Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asn42Ile Single submitter ⚠
- p.Asp150Val Single submitter ⚠
- p.Asp275Asn Single submitter ⚠
- p.Gln48His Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu5Asp Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly196Ala Single submitter ⚠
- p.His153Pro Single submitter ⚠
- p.Ile148Thr Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile203Thr Single submitter
- p.Ile258Thr Single submitter ⚠
- p.Ile75Val Single submitter ⚠
- p.Leu193Val Single submitter ⚠
- p.Lys290Glu Single submitter ⚠
- p.Phe252Val Single submitter microcephaly-congenital cataract-psoriasiform dermatitis syndrome ⚠
- p.Phe65Leu Single submitter ⚠
- p.Pro179Leu Single submitter Inborn genetic diseases ⚠
- p.Pro242Ala Single submitter ⚠
- p.Ser11Arg Single submitter ⚠
- p.Thr218Ser Single submitter ⚠
- p.Thr274Ile Single submitter ⚠
- p.Trp267_Trp268delinsTer Single submitter microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- p.Trp267Ter Single submitter microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- p.Trp95Ser Single submitter
- p.Tyr168Cys Single submitter ⚠
- p.Tyr278Cys Single submitter ⚠
- p.Val217Ala Single submitter ⚠