CHMP4B — 40 ClinVar variants
All ClinVar germline CHMP4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 11 Benign · 2 Benign/Likely benign · 9 Likely benign · 15 Uncertain significance
Full CHMP4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CHMP4B p.Gly154Arg
Uncertain significance
Multiple submitters
cataract 31 multiple types
- CHMP4B p.Arg74Met Uncertain significance Single submitter
-
CHMP4B p.Glu104Lys
Uncertain significance
Single submitter
cataract 31 multiple types
- CHMP4B p.Glu157Lys Uncertain significance Single submitter
-
CHMP4B p.Glu161Gln
Uncertain significance
Single submitter
cataract 31 multiple types
- CHMP4B p.Gly13Asp Uncertain significance Single submitter
- CHMP4B p.Lys73Asn Uncertain significance Single submitter
-
CHMP4B p.Ser196Ala
Uncertain significance
Single submitter
cataract 31 multiple types
- CHMP4B p.Thr147Ala Uncertain significance Single submitter
- CHMP4B p.Thr59Ile Uncertain significance Single submitter
- CHMP4B p.Val153Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CHMP4B variants
Pathogenic 2
- p.Asp129Val No assertion criteria cataract 31 multiple types
- p.Glu161Lys No assertion criteria cataract 31 multiple types
Likely pathogenic 1
- p.Gln67Arg Single submitter cataract 31 multiple types
Benign 11
- c.190+226C>G Multiple submitters
- c.610+159T>C Multiple submitters
- c.610+44A>G Multiple submitters
- c.610+51C>G Multiple submitters
- c.610+52T>C Multiple submitters
- c.-75C>G Multiple submitters
- c.*1T>C Multiple submitters
- c.191-295C>T Single submitter
- p.Asp160= Single submitter
- p.Glu90= Single submitter cataract 31 multiple types
- p.Ser150= Single submitter cataract 31 multiple types
Benign/Likely benign 2
- c.191-5C>T Multiple submitters cataract 31 multiple types
- p.Pro186= Multiple submitters cataract 31 multiple types
Likely benign 9
- c.610+81G>A Multiple submitters
- c.368+15G>A Single submitter cataract 31 multiple types
- c.369-15C>T Single submitter cataract 31 multiple types
- c.483+10T>G Single submitter cataract 31 multiple types
- c.483+7A>G Single submitter cataract 31 multiple types
- c.484-139G>T Single submitter
- p.Ala80= Single submitter cataract 31 multiple types
- p.Phe42= Single submitter cataract 31 multiple types
- c.610+9T>C No assertion criteria CHMP4B-related disorder
Uncertain significance 15
- p.Gly154Arg Multiple submitters cataract 31 multiple types ⚠
- p.Arg74Met Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Glu104Lys Single submitter cataract 31 multiple types ⚠
- p.Glu157Lys Single submitter ⚠
- p.Glu161Gln Single submitter cataract 31 multiple types ⚠
- p.Gly13Asp Single submitter ⚠
- p.Lys73Asn Single submitter ⚠
- p.Met123Leu Single submitter ⚠
- p.Ser196Ala Single submitter cataract 31 multiple types ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr59Ile Single submitter ⚠
- p.Val153Ala Single submitter ⚠
- p.Glu170Ter No assertion criteria CHMP4B-related disorder