CA1 — 37 ClinVar variants
All ClinVar germline CA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Pathogenic · 4 Benign · 1 Likely benign · 30 Uncertain significance
Full CA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CA1 p.Ala154Gly Uncertain significance Single submitter
- CA1 p.Ala259Pro Uncertain significance Single submitter
- CA1 p.Arg228Cys Uncertain significance Single submitter
- CA1 p.Arg247Cys Uncertain significance Single submitter
- CA1 p.Asn102Ser Uncertain significance Single submitter
- CA1 p.Asp10Asn Uncertain significance Single submitter
- CA1 p.Asp237Val Uncertain significance Single submitter
- CA1 p.Gln226Lys Uncertain significance Single submitter
- CA1 p.Glu118Lys Uncertain significance Single submitter
- CA1 p.Glu215Asp Uncertain significance Single submitter
- CA1 p.Gly105Asp Uncertain significance Single submitter
- CA1 p.Gly146Ala Uncertain significance Single submitter
- CA1 p.His120Tyr Uncertain significance Single submitter
- CA1 p.His244Gln Uncertain significance Single submitter
- CA1 p.Leu162Pro Uncertain significance Single submitter
- CA1 p.Leu20Val Uncertain significance Single submitter
- CA1 p.Ser232Thr Uncertain significance Single submitter
- CA1 p.Ser30Cys Uncertain significance Single submitter
- CA1 p.Ser49Arg Uncertain significance Single submitter
- CA1 p.Thr184Ala Uncertain significance Single submitter
- CA1 p.Tyr52Asn Uncertain significance Single submitter
- CA1 p.Val240Ala Uncertain significance Single submitter
- CA1 p.Val257Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CA1 variants
Pathogenic 2
- p.Arg247His No assertion criteria Carbonic anhydrase I deficiency ⚠
- p.Gly254Arg No assertion criteria Carbonic anhydrase I, Guam
Benign 4
- p.Ala143Val Multiple submitters ⚠
- p.Ala167Val Multiple submitters
- p.His120= Multiple submitters
- p.Pro196Leu Multiple submitters
Likely benign 1
- p.Arg77Gln Single submitter
Uncertain significance 30
- p.Ala154Gly Single submitter ⚠
- p.Ala259Pro Single submitter ⚠
- p.Arg228Cys Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Asn102Ser Single submitter ⚠
- p.Asp10Asn Single submitter ⚠
- p.Asp237Val Single submitter ⚠
- p.Gln226Lys Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu215Asp Single submitter ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly146Ala Single submitter ⚠
- p.Gly152Asp Single submitter
- p.His120Tyr Single submitter ⚠
- p.His123fs Single submitter renal tubular acidosis
- p.His244Gln Single submitter ⚠
- p.Leu162Pro Single submitter ⚠
- p.Leu20Val Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro22Leu Single submitter
- p.Pro22Ser Single submitter
- p.Pro251Ser Single submitter ⚠
- p.Ser232Thr Single submitter ⚠
- p.Ser30Cys Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Tyr52Asn Single submitter ⚠
- p.Val240Ala Single submitter ⚠
- p.Val257Ala Single submitter ⚠