CHMP4A — 36 ClinVar variants
All ClinVar germline CHMP4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Likely benign · 34 Uncertain significance
Full CHMP4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHMP4A p.Ala77Val Uncertain significance Single submitter
- CHMP4A p.Arg104His Uncertain significance Single submitter
- CHMP4A p.Arg148Gln Uncertain significance Single submitter
- CHMP4A p.Arg67Gln Uncertain significance Single submitter
- CHMP4A p.Arg6Gly Uncertain significance Single submitter
- CHMP4A p.Arg90Pro Uncertain significance Single submitter
- CHMP4A p.Asn99Lys Uncertain significance Single submitter
- CHMP4A p.Asp119Ala Uncertain significance Single submitter
- CHMP4A p.Asp155Ala Uncertain significance Single submitter
- CHMP4A p.Gln24His Uncertain significance Single submitter
- CHMP4A p.Gln42Arg Uncertain significance Single submitter
- CHMP4A p.Glu107Lys Uncertain significance Single submitter
- CHMP4A p.Glu176Gly Uncertain significance Single submitter
- CHMP4A p.Glu185Ala Uncertain significance Single submitter
- CHMP4A p.Glu30Gln Uncertain significance Single submitter
- CHMP4A p.Gly81Arg Uncertain significance Single submitter
- CHMP4A p.Leu168Pro Uncertain significance Single submitter
- CHMP4A p.Leu7Phe Uncertain significance Single submitter
- CHMP4A p.Lys114Arg Uncertain significance Single submitter
- CHMP4A p.Lys69Gln Uncertain significance Single submitter
- CHMP4A p.Thr133Met Uncertain significance Single submitter
- CHMP4A p.Thr82Pro Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CHMP4A p.Arg148Trp Uncertain significance Single submitter
- CHMP4A p.Gln141Lys Uncertain significance Single submitter
- CHMP4A p.Gln75Leu Uncertain significance Single submitter
- CHMP4A p.Glu160Ala Uncertain significance Single submitter
- CHMP4A p.Ile23Thr Uncertain significance Single submitter
- CHMP4A p.Lys12Gln Uncertain significance Single submitter
- CHMP4A p.Pro17Leu Uncertain significance Single submitter
All CHMP4A variants
Likely benign 2
- p.Asn179Ser Single submitter
- p.Leu161= Single submitter
Uncertain significance 34
- c.-21G>A Single submitter
- c.-35C>T Single submitter
- c.-48G>A Single submitter
- p.Ala77Val Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg67Gln Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Arg90Pro Single submitter ⚠
- p.Asn99Lys Single submitter ⚠
- p.Asp119Ala Single submitter ⚠
- p.Asp155Ala Single submitter ⚠
- p.Gln141Lys Single submitter ⚠
- p.Gln24His Single submitter ⚠
- p.Gln42Arg Single submitter ⚠
- p.Gln75Leu Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu160Ala Single submitter ⚠
- p.Glu176Gly Single submitter ⚠
- p.Glu185Ala Single submitter ⚠
- p.Glu30Gln Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Ile23Thr Single submitter ⚠
- p.Ile93Thr Single submitter
- p.Leu168Pro Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys114Arg Single submitter ⚠
- p.Lys12Gln Single submitter ⚠
- p.Lys69Gln Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Thr133Met Single submitter ⚠
- p.Thr82Pro Single submitter ⚠
- p.Val17Met Single submitter