CA7 — 25 ClinVar variants
All ClinVar germline CA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Benign · 2 Likely benign · 22 Uncertain significance
Full CA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CA7 p.Ala165Val Uncertain significance Single submitter
- CA7 p.Ala55Asp Uncertain significance Single submitter
- CA7 p.Ala55Gly Uncertain significance Single submitter
- CA7 p.Arg161Leu Uncertain significance Single submitter
- CA7 p.Arg256His Uncertain significance Single submitter
- CA7 p.Arg263Gln Uncertain significance Single submitter
- CA7 p.Asn73Asp Uncertain significance Single submitter
- CA7 p.Asp104Asn Uncertain significance Single submitter
- CA7 p.Glu87Lys Uncertain significance Single submitter
- CA7 p.Ile24Met Uncertain significance Single submitter
- CA7 p.Leu51Phe Uncertain significance Single submitter
- CA7 p.Leu59Phe Uncertain significance Single submitter
- CA7 p.Pro85Thr Uncertain significance Single submitter
- CA7 p.Tyr196Phe Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CA7 p.Arg191Trp Uncertain significance Single submitter
- CA7 p.Arg215Trp Uncertain significance Single submitter
- CA7 p.Arg91His Uncertain significance Single submitter
- CA7 p.Gly10Ser Uncertain significance Single submitter
- CA7 p.His192Arg Uncertain significance Single submitter
- CA7 p.Leu166Phe Uncertain significance Single submitter
- CA7 p.Lys20Asn Uncertain significance Single submitter
- CA7 p.Thr110Met Uncertain significance Single submitter
All CA7 variants
Benign 1
- p.His66= Single submitter
Likely benign 2
- p.Tyr22Phe Single submitter
- p.Val148= Single submitter
Uncertain significance 22
- p.Ala165Val Single submitter ⚠
- p.Ala55Asp Single submitter ⚠
- p.Ala55Gly Single submitter ⚠
- p.Arg161Leu Single submitter ⚠
- p.Arg191Trp Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg256His Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn73Asp Single submitter ⚠
- p.Asp104Asn Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Gly10Ser Single submitter ⚠
- p.His192Arg Single submitter ⚠
- p.Ile24Met Single submitter ⚠
- p.Leu166Phe Single submitter ⚠
- p.Leu51Phe Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Lys20Asn Single submitter ⚠
- p.Pro85Thr Single submitter ⚠
- p.Thr110Met Single submitter ⚠
- p.Tyr196Phe Single submitter ⚠