CHMP1B — 34 ClinVar variants
All ClinVar germline CHMP1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
1 Benign · 1 Likely benign · 32 Uncertain significance
Full CHMP1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHMP1B p.Ala31Pro Uncertain significance Single submitter
- CHMP1B p.Ala62Glu Uncertain significance Single submitter
- CHMP1B p.Arg191Ile Uncertain significance Single submitter
- CHMP1B p.Arg57Pro Uncertain significance Single submitter
- CHMP1B p.Arg78Gly Uncertain significance Single submitter
- CHMP1B p.Asp116Tyr Uncertain significance Single submitter
- CHMP1B p.Asp126Glu Uncertain significance Single submitter
- CHMP1B p.Asp73Tyr Uncertain significance Single submitter
- CHMP1B p.Lys35Asn Uncertain significance Single submitter
- CHMP1B p.Lys59Glu Uncertain significance Single submitter
- CHMP1B p.Met132Ile Uncertain significance Single submitter
- CHMP1B p.Phe13Ile Uncertain significance Single submitter
- CHMP1B p.Pro169Leu Uncertain significance Single submitter
- CHMP1B p.Ser69Asn Uncertain significance Single submitter
- CHMP1B p.Val149Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CHMP1B p.Ala48Gly Uncertain significance Single submitter
- CHMP1B p.Arg49Lys Uncertain significance Single submitter
- CHMP1B p.Asn44Ser Uncertain significance Single submitter
- CHMP1B p.Asn54Ser Uncertain significance Single submitter
- CHMP1B p.Glu155Asp Uncertain significance Single submitter
- CHMP1B p.Gly43Ser Uncertain significance Single submitter
- CHMP1B p.His7Gln Uncertain significance Single submitter
- CHMP1B p.Lys30Arg Uncertain significance Single submitter
- CHMP1B p.Lys90Thr Uncertain significance Single submitter
- CHMP1B p.Met106Val Uncertain significance Single submitter
- CHMP1B p.Met132Val Uncertain significance Single submitter
- CHMP1B p.Ser137Asn Uncertain significance Single submitter
- CHMP1B p.Ser182Leu Uncertain significance Single submitter
- CHMP1B p.Thr102Ile Uncertain significance Single submitter
- CHMP1B p.Thr105Ile Uncertain significance Single submitter
- CHMP1B p.Val199Met Uncertain significance Single submitter
- CHMP1B p.Val83Met Uncertain significance Single submitter
All CHMP1B variants
Benign 1
- p.Ala101= Single submitter
Likely benign 1
- p.Val180= Single submitter
Uncertain significance 32
- p.Ala31Pro Single submitter ⚠
- p.Ala48Gly Single submitter ⚠
- p.Ala62Glu Single submitter ⚠
- p.Arg191Ile Single submitter ⚠
- p.Arg49Lys Single submitter ⚠
- p.Arg57Pro Single submitter ⚠
- p.Arg78Gly Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asn54Ser Single submitter ⚠
- p.Asp116Tyr Single submitter ⚠
- p.Asp126Glu Single submitter ⚠
- p.Asp73Tyr Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.His7Gln Single submitter ⚠
- p.Lys30Arg Single submitter ⚠
- p.Lys35Asn Single submitter ⚠
- p.Lys59Glu Single submitter ⚠
- p.Lys90Thr Single submitter ⚠
- p.Met106Val Single submitter ⚠
- p.Met132Ile Single submitter ⚠
- p.Met132Val Single submitter ⚠
- p.Phe13Ile Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Ser137Asn Single submitter ⚠
- p.Ser182Leu Single submitter ⚠
- p.Ser69Asn Single submitter ⚠
- p.Thr102Ile Single submitter ⚠
- p.Thr105Ile Single submitter ⚠
- p.Val149Met Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val83Met Single submitter ⚠