CA5B — 48 ClinVar variants
All ClinVar germline CA5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
3 Likely benign · 45 Uncertain significance
Full CA5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CA5B p.Ala135Pro Uncertain significance Single submitter
- CA5B p.Ala170Glu Uncertain significance Single submitter
- CA5B p.Ala47Val Uncertain significance Single submitter
- CA5B p.Arg282Cys Uncertain significance Single submitter
- CA5B p.Arg282His Uncertain significance Single submitter
- CA5B p.Arg290Leu Uncertain significance Single submitter
- CA5B p.Asn68Asp Uncertain significance Single submitter
- CA5B p.Asp255Ala Uncertain significance Single submitter
- CA5B p.Glu241Lys Uncertain significance Single submitter
- CA5B p.Gly79Asp Uncertain significance Single submitter
- CA5B p.Ile136Thr Uncertain significance Single submitter
- CA5B p.Ile69Phe Uncertain significance Single submitter
- CA5B p.Leu83Arg Uncertain significance Single submitter
- CA5B p.Lys22Glu Uncertain significance Single submitter
- CA5B p.Met277Val Uncertain significance Single submitter
- CA5B p.Phe150Ser Uncertain significance Single submitter
- CA5B p.Pro119Ser Uncertain significance Single submitter
- CA5B p.Pro238Ser Uncertain significance Single submitter
- CA5B p.Pro26Leu Uncertain significance Single submitter
- CA5B p.Pro308Thr Uncertain significance Single submitter
- CA5B p.Pro33Ser Uncertain significance Single submitter
- CA5B p.Pro50Ala Uncertain significance Single submitter
- CA5B p.Ser14Cys Uncertain significance Single submitter
- CA5B p.Thr40Ile Uncertain significance Single submitter
- CA5B p.Val243Ala Uncertain significance Single submitter
- CA5B p.Val9Ala Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CA5B p.Ala138Val Uncertain significance Single submitter
- CA5B p.Arg293His Uncertain significance Single submitter
- CA5B p.Arg32Ser Uncertain significance Single submitter
- CA5B p.Arg63Cys Uncertain significance Single submitter
- CA5B p.Asp216Asn Uncertain significance Single submitter
- CA5B p.Asp216Tyr Uncertain significance Single submitter
- CA5B p.Asp226His Uncertain significance Single submitter
- CA5B p.Cys34Trp Uncertain significance Single submitter
- CA5B p.Glu211Gly Uncertain significance Single submitter
- CA5B p.Gly16Asp Uncertain significance Single submitter
- CA5B p.Gly271Arg Uncertain significance Single submitter
- CA5B p.His190Arg Uncertain significance Single submitter
- CA5B p.Leu287Val Uncertain significance Single submitter
- CA5B p.Leu83Val Uncertain significance Single submitter
- CA5B p.Pro201Leu Uncertain significance Single submitter
- CA5B p.Pro286Leu Uncertain significance Single submitter
- CA5B p.Pro78Ala Uncertain significance Single submitter
- CA5B p.Val145Met Uncertain significance Single submitter
- CA5B p.Val75Asp Uncertain significance Single submitter
All CA5B variants
Likely benign 3
- c.459+1G>T Single submitter
- p.Arg297Gln Single submitter
- p.Pro308Ser Single submitter
Uncertain significance 45
- p.Ala135Pro Single submitter ⚠
- p.Ala138Val Single submitter ⚠
- p.Ala170Glu Single submitter ⚠
- p.Ala47Val Single submitter ⚠
- p.Arg282Cys Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg290Leu Single submitter ⚠
- p.Arg293His Single submitter ⚠
- p.Arg32Ser Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Asn68Asp Single submitter ⚠
- p.Asp216Asn Single submitter ⚠
- p.Asp216Tyr Single submitter ⚠
- p.Asp226His Single submitter ⚠
- p.Asp255Ala Single submitter ⚠
- p.Cys34Trp Single submitter ⚠
- p.Glu211Gly Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Gly16Asp Single submitter ⚠
- p.Gly271Arg Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.His190Arg Single submitter ⚠
- p.Ile136Thr Single submitter ⚠
- p.Ile69Phe Single submitter ⚠
- p.Leu287Val Single submitter ⚠
- p.Leu83Arg Single submitter ⚠
- p.Leu83Val Single submitter ⚠
- p.Lys22Glu Single submitter ⚠
- p.Met277Val Single submitter ⚠
- p.Phe150Ser Single submitter ⚠
- p.Pro119Ser Single submitter ⚠
- p.Pro201Leu Single submitter ⚠
- p.Pro238Ser Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro308Thr Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro50Ala Single submitter ⚠
- p.Pro78Ala Single submitter ⚠
- p.Ser14Cys Single submitter ⚠
- p.Thr40Ile Single submitter ⚠
- p.Val145Met Single submitter ⚠
- p.Val243Ala Single submitter ⚠
- p.Val75Asp Single submitter ⚠
- p.Val9Ala Single submitter ⚠