MSL1 — 31 ClinVar variants
All ClinVar germline MSL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
31 Uncertain significance
Full MSL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MSL1 p.Arg391Gln Uncertain significance Single submitter
- MSL1 p.Arg459Ser Uncertain significance Single submitter
- MSL1 p.Arg517Met Uncertain significance Single submitter
- MSL1 p.Asp499Glu Uncertain significance Single submitter
- MSL1 p.Gln284His Uncertain significance Single submitter
- MSL1 p.Glu292Gly Uncertain significance Single submitter
- MSL1 p.Glu421Asp Uncertain significance Single submitter
- MSL1 p.Glu594Asp Uncertain significance Single submitter
- MSL1 p.Leu302Pro Uncertain significance Single submitter
- MSL1 p.Leu494Val Uncertain significance Single submitter
- MSL1 p.Lys341Gln Uncertain significance Single submitter
- MSL1 p.Pro343Leu Uncertain significance Single submitter
- MSL1 p.Pro445Gln Uncertain significance Single submitter
- MSL1 p.Pro558Leu Uncertain significance Single submitter
- MSL1 p.Pro580Leu Uncertain significance Single submitter
- MSL1 p.Pro590Leu Uncertain significance Single submitter
- MSL1 p.Ser325Thr Uncertain significance Single submitter
- MSL1 p.Ser417Leu Uncertain significance Single submitter
- MSL1 p.Ser464Thr Uncertain significance Single submitter
- MSL1 p.Ser501Cys Uncertain significance Single submitter
- MSL1 p.Thr338Ile Uncertain significance Single submitter
- MSL1 p.Val466Ile Uncertain significance Single submitter
- MSL1 p.Val483Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All MSL1 variants
Uncertain significance 31
- c.769-2A>G Single submitter
- p.Arg391Gln Single submitter ⚠
- p.Arg459Ser Single submitter ⚠
- p.Arg516fs Single submitter
- p.Arg517Met Single submitter ⚠
- p.Arg597Gln Single submitter
- p.Asp499Glu Single submitter ⚠
- p.Gln284His Single submitter ⚠
- p.Gln585His Single submitter ⚠
- p.Glu292Gly Single submitter ⚠
- p.Glu421Asp Single submitter ⚠
- p.Glu594Asp Single submitter ⚠
- p.Leu302Pro Single submitter ⚠
- p.Leu494Val Single submitter ⚠
- p.Lys341Gln Single submitter ⚠
- p.Lys453Glu Single submitter ⚠
- p.Lys605Gln Single submitter ⚠
- p.Pro343Leu Single submitter ⚠
- p.Pro445Gln Single submitter ⚠
- p.Pro558Leu Single submitter ⚠
- p.Pro568Arg Single submitter ⚠
- p.Pro580Leu Single submitter ⚠
- p.Pro590Leu Single submitter ⚠
- p.Ser325Thr Single submitter ⚠
- p.Ser417Leu Single submitter ⚠
- p.Ser464Thr Single submitter ⚠
- p.Ser501Cys Single submitter ⚠
- p.Thr338Ile Single submitter ⚠
- p.Val466Ile Single submitter ⚠
- p.Val483Ile Single submitter ⚠
- p.Val573Ala Single submitter ⚠