CA6 — 54 ClinVar variants
All ClinVar germline CA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Benign · 5 Likely benign · 47 Uncertain significance
Full CA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CA6 p.Arg255Ser Uncertain significance Single submitter
- CA6 p.Arg265Gly Uncertain significance Single submitter
- CA6 p.Asn280Tyr Uncertain significance Single submitter
- CA6 p.Asp203Glu Uncertain significance Single submitter
- CA6 p.Gln47Arg Uncertain significance Single submitter
- CA6 p.Gly123Ser Uncertain significance Single submitter
- CA6 p.Gly14Ser Uncertain significance Single submitter
- CA6 p.Gly65Glu Uncertain significance Single submitter
- CA6 p.Gly76Arg Uncertain significance Single submitter
- CA6 p.His113Tyr Uncertain significance Single submitter
- CA6 p.His126Tyr Uncertain significance Single submitter
- CA6 p.His141Asn Uncertain significance Single submitter
- CA6 p.His141Pro Uncertain significance Single submitter
- CA6 p.His19Leu Uncertain significance Single submitter
- CA6 p.Ile137Val Uncertain significance Single submitter
- CA6 p.Leu13Pro Uncertain significance Single submitter
- CA6 p.Leu269Pro Uncertain significance Single submitter
- CA6 p.Leu285Val Uncertain significance Single submitter
- CA6 p.Lys238Glu Uncertain significance Single submitter
- CA6 p.Met110Lys Uncertain significance Single submitter
- CA6 p.Pro156Leu Uncertain significance Single submitter
- CA6 p.Pro156Thr Uncertain significance Single submitter
- CA6 p.Pro279Arg Uncertain significance Single submitter
- CA6 p.Thr284Ala Uncertain significance Single submitter
- CA6 p.Tyr189His Uncertain significance Single submitter
- CA6 p.Val166Ile Uncertain significance Single submitter
- CA6 p.Val244Phe Uncertain significance Single submitter
- CA6 p.Val274Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CA6 p.Ala33Val Uncertain significance Single submitter
- CA6 p.Arg255Cys Uncertain significance Single submitter
- CA6 p.Arg305Gly Uncertain significance Single submitter
- CA6 p.Arg96Gly Uncertain significance Single submitter
- CA6 p.Asp262Ala Uncertain significance Single submitter
- CA6 p.Gln243Glu Uncertain significance Single submitter
- CA6 p.Gly102Ser Uncertain significance Single submitter
- CA6 p.His254Pro Uncertain significance Single submitter
- CA6 p.His294Tyr Uncertain significance Single submitter
- CA6 p.Leu7Pro Uncertain significance Single submitter
- CA6 p.Phe78Leu Uncertain significance Single submitter
- CA6 p.Ser118Tyr Uncertain significance Single submitter
- CA6 p.Ser119Leu Uncertain significance Single submitter
- CA6 p.Tyr59Cys Uncertain significance Single submitter
- CA6 p.Val128Met Uncertain significance Single submitter
- CA6 p.Val161Ile Uncertain significance Single submitter
- CA6 p.Val20Met Uncertain significance Single submitter
- CA6 p.Val228Ile Uncertain significance Single submitter
- CA6 p.Val57Leu Uncertain significance Single submitter
All CA6 variants
Likely benign 5
- c.844+13G>A Single submitter
- p.Arg207Lys Single submitter
- p.Asn51Asp Single submitter
- p.His294Arg Single submitter
- p.Val201Ile Single submitter
Uncertain significance 47
- p.Ala33Val Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg255Ser Single submitter ⚠
- p.Arg265Gly Single submitter ⚠
- p.Arg305Gly Single submitter ⚠
- p.Arg96Gly Single submitter ⚠
- p.Asn280Tyr Single submitter ⚠
- p.Asp203Glu Single submitter ⚠
- p.Asp262Ala Single submitter ⚠
- p.Gln243Glu Single submitter ⚠
- p.Gln47Arg Single submitter ⚠
- p.Gly102Ser Single submitter ⚠
- p.Gly123Ser Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly65Glu Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.His113Tyr Single submitter ⚠
- p.His126Tyr Single submitter ⚠
- p.His141Asn Single submitter ⚠
- p.His141Pro Single submitter ⚠
- p.His19Leu Single submitter ⚠
- p.His254Pro Single submitter ⚠
- p.His294Tyr Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu269Pro Single submitter ⚠
- p.Leu285Val Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys238Glu Single submitter ⚠
- p.Met110Lys Single submitter ⚠
- p.Phe78Leu Single submitter ⚠
- p.Pro156Leu Single submitter ⚠
- p.Pro156Thr Single submitter ⚠
- p.Pro279Arg Single submitter ⚠
- p.Ser118Tyr Single submitter ⚠
- p.Ser119Leu Single submitter ⚠
- p.Thr284Ala Single submitter ⚠
- p.Tyr189His Single submitter ⚠
- p.Tyr59Cys Single submitter ⚠
- p.Val128Met Single submitter ⚠
- p.Val161Ile Single submitter ⚠
- p.Val166Ile Single submitter ⚠
- p.Val20Met Single submitter ⚠
- p.Val228Ile Single submitter ⚠
- p.Val244Phe Single submitter ⚠
- p.Val274Met Single submitter ⚠
- p.Val57Leu Single submitter ⚠