CHMP6 — 35 ClinVar variants
All ClinVar germline CHMP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
3 Benign · 2 Likely benign · 30 Uncertain significance
Full CHMP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHMP6 p.Ala190Asp Uncertain significance Single submitter
- CHMP6 p.Ala46Thr Uncertain significance Single submitter
- CHMP6 p.Arg53Gln Uncertain significance Single submitter
- CHMP6 p.Ile120Val Uncertain significance Single submitter
- CHMP6 p.Leu52Pro Uncertain significance Single submitter
- CHMP6 p.Lys61Glu Uncertain significance Single submitter
- CHMP6 p.Met101Leu Uncertain significance Single submitter
- CHMP6 p.Met118Val Uncertain significance Single submitter
- CHMP6 p.Met87Thr Uncertain significance Single submitter
- CHMP6 p.Phe106Ser Uncertain significance Single submitter
- CHMP6 p.Val134Met Uncertain significance Single submitter
- CHMP6 p.Val88Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CHMP6 p.Gly55Ser Benign Multiple submitters
- CHMP6 p.Arg12Pro Uncertain significance Single submitter
- CHMP6 p.Arg138Gln Uncertain significance Single submitter
- CHMP6 p.Arg45Cys Uncertain significance Single submitter
- CHMP6 p.Arg45His Uncertain significance Single submitter
- CHMP6 p.Arg49Gln Uncertain significance Single submitter
- CHMP6 p.Arg49Trp Uncertain significance Single submitter
- CHMP6 p.Arg59Trp Uncertain significance Single submitter
- CHMP6 p.Arg68Gln Uncertain significance Single submitter
- CHMP6 p.Asn108Ser Uncertain significance Single submitter
- CHMP6 p.Asn79Thr Uncertain significance Single submitter
- CHMP6 p.Asp154His Uncertain significance Single submitter
- CHMP6 p.Gln116Arg Uncertain significance Single submitter
- CHMP6 p.Glu151Val Uncertain significance Single submitter
- CHMP6 p.Glu42Gln Uncertain significance Single submitter
- CHMP6 p.Ile120Phe Uncertain significance Single submitter
- CHMP6 p.Ile140Val Uncertain significance Single submitter
- CHMP6 p.Leu41Val Uncertain significance Single submitter
- CHMP6 p.Thr130Met Uncertain significance Single submitter
All CHMP6 variants
Benign 3
- p.Asn185= Multiple submitters
- p.Gly55Ser Multiple submitters ⚠
- c.495+14del Single submitter
Likely benign 2
- p.Arg31Lys Single submitter
- p.Arg43= Single submitter
Uncertain significance 30
- p.Ala190Asp Single submitter ⚠
- p.Ala46Thr Single submitter ⚠
- p.Arg12Pro Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg49Trp Single submitter ⚠
- p.Arg53Gln Single submitter ⚠
- p.Arg59Trp Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn79Thr Single submitter ⚠
- p.Asp154His Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Glu151Val Single submitter ⚠
- p.Glu42Gln Single submitter ⚠
- p.Ile120Phe Single submitter ⚠
- p.Ile120Val Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Lys61Glu Single submitter ⚠
- p.Met101Leu Single submitter ⚠
- p.Met118Val Single submitter ⚠
- p.Met87Thr Single submitter ⚠
- p.Phe106Ser Single submitter ⚠
- p.Thr130Met Single submitter ⚠
- p.Val134Met Single submitter ⚠
- p.Val88Ile Single submitter ⚠