MSI2 — 27 ClinVar variants
All ClinVar germline MSI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
27 Uncertain significance
Full MSI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MSI2 p.Ala247Thr Uncertain significance Single submitter
- MSI2 p.Ala276Ser Uncertain significance Single submitter
- MSI2 p.Arg269Gln Uncertain significance Single submitter
- MSI2 p.Asn176Asp Uncertain significance Single submitter
- MSI2 p.Glu159Gly Uncertain significance Single submitter
- MSI2 p.Gly116Arg Uncertain significance Single submitter
- MSI2 p.Gly287Ser Uncertain significance Single submitter
- MSI2 p.Gly294Val Uncertain significance Single submitter
- MSI2 p.Gly311Ser Uncertain significance Single submitter
- MSI2 p.Gly313Ser Uncertain significance Single submitter
- MSI2 p.Gly65Ser Uncertain significance Single submitter
- MSI2 p.Met142Thr Uncertain significance Single submitter
- MSI2 p.Pro274Leu Uncertain significance Single submitter
- MSI2 p.Ser290Gly Uncertain significance Single submitter
- MSI2 p.Tyr129His Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- MSI2 p.Ala320Thr Uncertain significance Single submitter
- MSI2 p.Asn176Ser Uncertain significance Single submitter
- MSI2 p.Asp39Asn Uncertain significance Single submitter
- MSI2 p.Gly198Ser Uncertain significance Single submitter
- MSI2 p.Gly271Arg Uncertain significance Single submitter
- MSI2 p.Gly296Glu Uncertain significance Single submitter
- MSI2 p.Val106Ile Uncertain significance Single submitter
All MSI2 variants
Uncertain significance 27
- c.42_62+4del Single submitter
- c.537+1G>A Single submitter
- p.Ala247Thr Single submitter ⚠
- p.Ala276Ser Single submitter ⚠
- p.Ala320Thr Single submitter ⚠
- p.Arg228His Single submitter
- p.Arg269Gln Single submitter ⚠
- p.Asn176Asp Single submitter ⚠
- p.Asn176Ser Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Glu159Gly Single submitter ⚠
- p.Gly116Arg Single submitter ⚠
- p.Gly198Ser Single submitter ⚠
- p.Gly271Arg Single submitter ⚠
- p.Gly287Ser Single submitter ⚠
- p.Gly294Val Single submitter ⚠
- p.Gly296Glu Single submitter ⚠
- p.Gly311Ser Single submitter ⚠
- p.Gly313Ser Single submitter ⚠
- p.Gly65Ser Single submitter ⚠
- p.Met142Thr Single submitter ⚠
- p.Pro274Leu Single submitter ⚠
- p.Pro304Ser Single submitter
- p.Pro306Leu Single submitter
- p.Ser290Gly Single submitter ⚠
- p.Tyr129His Single submitter ⚠
- p.Val106Ile Single submitter ⚠