MOS — 60 ClinVar variants
All ClinVar germline MOS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
7 Pathogenic · 3 Likely pathogenic · 3 Likely benign · 47 Uncertain significance
Full MOS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MOS p.Arg246His
Pathogenic
No assertion criteria
oocyte/zygote/embryo maturation arrest 20
-
MOS p.Arg319His
Pathogenic
No assertion criteria
oocyte/zygote/embryo maturation arrest 20
-
MOS p.Ile197Met
Pathogenic
No assertion criteria
oocyte/zygote/embryo maturation arrest 20
Predictors lean, ClinVar uncertain 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MOS p.Ala154Thr Uncertain significance Single submitter
- MOS p.Ala247Val Uncertain significance Single submitter
- MOS p.Ala277Glu Uncertain significance Single submitter
- MOS p.Ala289Thr Uncertain significance Single submitter
- MOS p.Ala43Thr Uncertain significance Single submitter
- MOS p.Arg12Leu Uncertain significance Single submitter
- MOS p.Arg296Leu Uncertain significance Single submitter
- MOS p.Arg296Ser Uncertain significance Single submitter
- MOS p.Arg328Gly Uncertain significance Single submitter
- MOS p.Arg42Trp Uncertain significance Single submitter
- MOS p.Asn144Lys Uncertain significance Single submitter
- MOS p.Asp213Asn Uncertain significance Single submitter
- MOS p.Asp337Ala Uncertain significance Single submitter
- MOS p.Cys320Phe Uncertain significance Single submitter
- MOS p.Gly130Ala Uncertain significance Single submitter
- MOS p.Gly314Arg Uncertain significance Single submitter
- MOS p.His157Arg Uncertain significance Single submitter
-
MOS p.His199Leu
Uncertain significance
Single submitter
oocyte/zygote/embryo maturation arrest 20
- MOS p.His245Pro Uncertain significance Single submitter
- MOS p.Ile117Val Uncertain significance Single submitter
- MOS p.Leu175Phe Uncertain significance Single submitter
- MOS p.Leu229Val Uncertain significance Single submitter
- MOS p.Leu287Val Uncertain significance Single submitter
- MOS p.Leu34Met Uncertain significance Single submitter
- MOS p.Lys177Asn Uncertain significance Single submitter
- MOS p.Lys180Thr Uncertain significance Single submitter
- MOS p.Phe15Ser Uncertain significance Single submitter
- MOS p.Pro158Ser Uncertain significance Single submitter
- MOS p.Pro17Leu Uncertain significance Single submitter
- MOS p.Pro248Leu Uncertain significance Single submitter
- MOS p.Pro329Arg Uncertain significance Single submitter
- MOS p.Pro44Leu Uncertain significance Single submitter
- MOS p.Pro83Leu Uncertain significance Single submitter
- MOS p.Ser18Leu Uncertain significance Single submitter
- MOS p.Ser340Cys Uncertain significance Single submitter
- MOS p.Ser73Leu Uncertain significance Single submitter
- MOS p.Thr234Lys Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- MOS p.Arg246Ser Uncertain significance Single submitter
- MOS p.Arg49Leu Uncertain significance Single submitter
- MOS p.Cys24Phe Uncertain significance Single submitter
- MOS p.Ser194Leu Uncertain significance Single submitter
- MOS p.Val118Leu Uncertain significance Single submitter
-
MOS p.Asn95Lys
Pathogenic
No assertion criteria
oocyte/zygote/embryo maturation arrest 20
-
MOS p.Met139Thr
Pathogenic
No assertion criteria
oocyte/zygote/embryo maturation arrest 20
All MOS variants
Pathogenic 7
- p.Arg246His No assertion criteria oocyte/zygote/embryo maturation arrest 20 ⚠
- p.Arg319His No assertion criteria oocyte/zygote/embryo maturation arrest 20 ⚠
- p.Asn95Lys No assertion criteria oocyte/zygote/embryo maturation arrest 20 ⚠
- p.Cys320Ter No assertion criteria oocyte/zygote/embryo maturation arrest 20
- p.Ile197Met No assertion criteria oocyte/zygote/embryo maturation arrest 20 ⚠
- p.Met139Thr No assertion criteria oocyte/zygote/embryo maturation arrest 20 ⚠
- p.Ser264Cys No assertion criteria oocyte/zygote/embryo maturation arrest 20
Likely pathogenic 3
- p.Gly156fs Single submitter oocyte/zygote/embryo maturation arrest 20
- p.Lys252fs Single submitter oocyte/zygote/embryo maturation arrest 20
- p.Ser182Ter Single submitter oocyte/zygote/embryo maturation arrest 20
Likely benign 3
- p.Ala122= Single submitter
- p.Arg100Gln Single submitter
- p.Ser324= Single submitter
Uncertain significance 47
- p.Ala154Thr Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala277Glu Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala292Val Single submitter oocyte/zygote/embryo maturation arrest 20
- p.Ala43Thr Single submitter ⚠
- p.Arg12Leu Single submitter ⚠
- p.Arg246Ser Single submitter ⚠
- p.Arg296Leu Single submitter ⚠
- p.Arg296Ser Single submitter ⚠
- p.Arg328Gly Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg49Leu Single submitter ⚠
- p.Asn144Lys Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp337Ala Single submitter ⚠
- p.Cys24Phe Single submitter ⚠
- p.Cys320Phe Single submitter ⚠
- p.Gly130Ala Single submitter ⚠
- p.Gly310Glu Single submitter
- p.Gly314Arg Single submitter ⚠
- p.His157Arg Single submitter ⚠
- p.His199Leu Single submitter oocyte/zygote/embryo maturation arrest 20 ⚠
- p.His245Pro Single submitter ⚠
- p.Ile117Val Single submitter ⚠
- p.Leu175Phe Single submitter ⚠
- p.Leu229Val Single submitter ⚠
- p.Leu287Val Single submitter ⚠
- p.Leu34Met Single submitter ⚠
- p.Lys177Asn Single submitter ⚠
- p.Lys180Thr Single submitter ⚠
- p.Phe15Ser Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro248Leu Single submitter ⚠
- p.Pro329Arg Single submitter ⚠
- p.Pro44Leu Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser194Leu Single submitter ⚠
- p.Ser340Cys Single submitter ⚠
- p.Ser73Leu Single submitter ⚠
- p.Thr234Lys Single submitter ⚠
- p.Thr244Asn Single submitter
- p.Trp321Ter Single submitter oocyte/zygote/embryo maturation arrest 20
- p.Tyr243Ter Single submitter
- p.Val118Leu Single submitter ⚠