CHMP2A — 22 ClinVar variants
All ClinVar germline CHMP2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
22 Uncertain significance
Full CHMP2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHMP2A p.Ala201Gly Uncertain significance Single submitter
- CHMP2A p.Ala204Thr Uncertain significance Single submitter
- CHMP2A p.Ala85Asp Uncertain significance Single submitter
- CHMP2A p.Arg215Gln Uncertain significance Single submitter
- CHMP2A p.Arg220Trp Uncertain significance Single submitter
- CHMP2A p.Arg27Gln Uncertain significance Single submitter
- CHMP2A p.Asn18Lys Uncertain significance Single submitter
- CHMP2A p.Gln91His Uncertain significance Single submitter
- CHMP2A p.Glu158Asp Uncertain significance Single submitter
- CHMP2A p.Gly194Arg Uncertain significance Single submitter
- CHMP2A p.Gly54Ser Uncertain significance Single submitter
- CHMP2A p.Leu119Trp Uncertain significance Single submitter
- CHMP2A p.Leu66Phe Uncertain significance Single submitter
- CHMP2A p.Lys49Asn Uncertain significance Single submitter
- CHMP2A p.Lys52Asn Uncertain significance Single submitter
- CHMP2A p.Val86Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CHMP2A variants
Uncertain significance 22
- p.Ala201Gly Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Ala85Asp Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg220Gln Single submitter
- p.Arg220Trp Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Asn18Lys Single submitter ⚠
- p.Gln91His Single submitter ⚠
- p.Glu158Asp Single submitter ⚠
- p.Gly187Arg Single submitter
- p.Gly194Arg Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.Leu119Trp Single submitter ⚠
- p.Leu189His Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Lys49Asn Single submitter ⚠
- p.Lys52Asn Single submitter ⚠
- p.Met113Ile Single submitter ⚠
- p.Met142Ile Single submitter
- p.Val86Ala Single submitter ⚠