CHMP5 — 25 ClinVar variants
All ClinVar germline CHMP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Likely benign · 24 Uncertain significance
Full CHMP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHMP5 p.Ala186Thr Uncertain significance Single submitter
- CHMP5 p.Arg79Trp Uncertain significance Single submitter
- CHMP5 p.Asn81Asp Uncertain significance Single submitter
- CHMP5 p.Asp159Glu Uncertain significance Single submitter
- CHMP5 p.Asp39Ala Uncertain significance Single submitter
- CHMP5 p.Glu136Gln Uncertain significance Single submitter
- CHMP5 p.Glu136Lys Uncertain significance Single submitter
- CHMP5 p.Ile192Val Uncertain significance Single submitter
- CHMP5 p.Leu135Pro Uncertain significance Single submitter
- CHMP5 p.Lys46Thr Uncertain significance Single submitter
- CHMP5 p.Lys51Arg Uncertain significance Single submitter
- CHMP5 p.Met116Ile Uncertain significance Single submitter
- CHMP5 p.Pro56Leu Uncertain significance Single submitter
- CHMP5 p.Ser180Thr Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CHMP5 p.Ala191Val Uncertain significance Single submitter
- CHMP5 p.Arg79Gln Uncertain significance Single submitter
- CHMP5 p.Asn143Ser Uncertain significance Single submitter
- CHMP5 p.Asp25Glu Uncertain significance Single submitter
- CHMP5 p.Glu164Asp Uncertain significance Single submitter
- CHMP5 p.Gly22Asp Uncertain significance Single submitter
- CHMP5 p.Leu4Phe Likely benign Single submitter
- CHMP5 p.Met89Val Uncertain significance Single submitter
- CHMP5 p.Pro13Leu Uncertain significance Single submitter
- CHMP5 p.Ser180Asn Uncertain significance Single submitter
- CHMP5 p.Thr23Met Uncertain significance Single submitter
All CHMP5 variants
Uncertain significance 24
- p.Ala186Thr Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Arg79Gln Single submitter ⚠
- p.Arg79Trp Single submitter ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asn81Asp Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Asp39Ala Single submitter ⚠
- p.Glu136Gln Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Glu164Asp Single submitter ⚠
- p.Gly22Asp Single submitter ⚠
- p.Ile192Val Single submitter ⚠
- p.Leu135Pro Single submitter ⚠
- p.Lys46Thr Single submitter ⚠
- p.Lys51Arg Single submitter ⚠
- p.Met116Ile Single submitter ⚠
- p.Met89Val Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Ser180Asn Single submitter ⚠
- p.Ser180Thr Single submitter ⚠
- p.Thr23Met Single submitter ⚠