CA12 — 110 ClinVar variants
All ClinVar germline CA12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
2 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 27 Benign · 16 Likely benign · 60 Uncertain significance
Full CA12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CA12 p.Ala10Thr Uncertain significance Single submitter
- CA12 p.Ala157Thr Uncertain significance Single submitter
- CA12 p.Ala168Thr Uncertain significance Single submitter
- CA12 p.Ala200Thr Uncertain significance Single submitter
- CA12 p.Ala216Pro Uncertain significance Single submitter
- CA12 p.Ala297Val Uncertain significance Single submitter
- CA12 p.Ala8Val Uncertain significance Single submitter
- CA12 p.Ala9Thr Uncertain significance Single submitter
- CA12 p.Arg222Trp Uncertain significance Single submitter
- CA12 p.Arg240Gln Uncertain significance Single submitter
- CA12 p.Arg275Gln Uncertain significance Single submitter
- CA12 p.Arg3Gly Uncertain significance Single submitter
- CA12 p.Asn126Ser Uncertain significance Single submitter
- CA12 p.Asn150Tyr Uncertain significance Single submitter
- CA12 p.Asn91Lys Uncertain significance Single submitter
- CA12 p.Asp281Asn Uncertain significance Single submitter
- CA12 p.Cys230Tyr Uncertain significance Single submitter
- CA12 p.Cys50Trp Uncertain significance Single submitter
- CA12 p.Gln198Glu Uncertain significance Single submitter
- CA12 p.Glu209Asp Uncertain significance Single submitter
- CA12 p.Glu269Gln Uncertain significance Single submitter
- CA12 p.Glu75Lys Uncertain significance Single submitter
- CA12 p.Gly166Asp Uncertain significance Single submitter
-
CA12 p.Gly223Ala
Uncertain significance
Single submitter
isolated hyperchlorhidrosis
- CA12 p.Gly29Asp Uncertain significance Single submitter
-
CA12 p.His119Tyr
Uncertain significance
Single submitter
isolated hyperchlorhidrosis
- CA12 p.His353Tyr Uncertain significance Single submitter
- CA12 p.His7Gln Uncertain significance Single submitter
- CA12 p.Ile174Thr Uncertain significance Single submitter
- CA12 p.Ile174Val Uncertain significance Single submitter
- CA12 p.Ile186Thr Uncertain significance Single submitter
- CA12 p.Ile305Val Uncertain significance Single submitter
- CA12 p.Lys279Asn Uncertain significance Single submitter
- CA12 p.Pro125Leu Uncertain significance Single submitter
- CA12 p.Pro128Leu Uncertain significance Single submitter
- CA12 p.Pro212Leu Uncertain significance Single submitter
- CA12 p.Pro228Leu Uncertain significance Single submitter
- CA12 p.Pro26Leu Uncertain significance Single submitter
- CA12 p.Pro48Ala Uncertain significance Single submitter
- CA12 p.Pro48Leu Uncertain significance Single submitter
- CA12 p.Pro57Leu Uncertain significance Single submitter
- CA12 p.Ser23Arg Uncertain significance Single submitter
- CA12 p.Ser49Leu Uncertain significance Single submitter
- CA12 p.Ser62Arg Uncertain significance Single submitter
- CA12 p.Thr134Ser Uncertain significance Single submitter
- CA12 p.Thr346Asn Uncertain significance Single submitter
- CA12 p.Thr350Asn Uncertain significance Single submitter
- CA12 p.Thr72Met Uncertain significance Single submitter
- CA12 p.Trp32Arg Uncertain significance Single submitter
- CA12 p.Val294Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CA12 variants
Pathogenic 2
- p.His121Gln Single submitter isolated hyperchlorhidrosis
- p.Thr287fs Single submitter isolated hyperchlorhidrosis
Likely pathogenic 4
- p.Glu143Lys Single submitter isolated hyperchlorhidrosis
- p.Pro229fs Single submitter isolated hyperchlorhidrosis
- p.Tyr195Ter Single submitter isolated hyperchlorhidrosis
- p.Val319fs Single submitter isolated hyperchlorhidrosis
Conflicting classifications of pathogenicity 1
- c.908-1G>A Single submitter isolated hyperchlorhidrosis
Benign 27
- c.107-108T>C Multiple submitters
- c.107-113G>A Multiple submitters
- c.286+92G>A Multiple submitters
- c.429+148G>A Multiple submitters
- c.429+186C>G Multiple submitters
- c.85+94C>G Multiple submitters
- c.*234C>T Multiple submitters
- p.Asp68= Multiple submitters
- p.Phe76= Multiple submitters isolated hyperchlorhidrosis
- c.286+251C>T Single submitter
- c.430-109C>A Single submitter
- c.430-132G>A Single submitter
- c.430-191A>G Single submitter
- c.526-256A>G Single submitter
- c.748-323dup Single submitter
- c.748-325_748-324insA Single submitter
- c.748-329_748-326del Single submitter
- c.85+255T>A Single submitter
- c.86-284C>T Single submitter
- c.874+127G>A Single submitter
- c.875-209del Single submitter
- c.875-224dup Single submitter
- c.908-283dup Single submitter
- p.Ala25Thr Single submitter
- p.Ala83= Single submitter
- p.Ser136= Single submitter
- p.Arg222Gln No assertion criteria CA12-related disorder
Likely benign 16
- p.Leu167= Multiple submitters
- p.Pro26Arg Multiple submitters
- c.589+14G>C Single submitter
- p.Ala297= Single submitter
- p.Ala354Val Single submitter
- p.Gln77= Single submitter
- p.Gly52= Single submitter
- p.His105= Single submitter
- p.His7= Single submitter
- p.Pro203= Single submitter
- p.Thr255= Single submitter
- p.Val15Leu Single submitter
- p.Val193Ile Single submitter
- p.Val202Ile Single submitter
- c.287-5C>T No assertion criteria CA12-related disorder
- p.Gly312= No assertion criteria CA12-related disorder
Uncertain significance 60
- p.Ala10Thr Single submitter ⚠
- p.Ala142Thr Single submitter
- p.Ala157Thr Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala216Pro Single submitter ⚠
- p.Ala297Val Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg222Trp Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg3Gly Single submitter ⚠
- p.Asn126Ser Single submitter ⚠
- p.Asn150Tyr Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asn91Lys Single submitter ⚠
- p.Asp281Asn Single submitter ⚠
- p.Cys230Tyr Single submitter ⚠
- p.Cys50Trp Single submitter ⚠
- p.Gln198Glu Single submitter ⚠
- p.Glu209Asp Single submitter ⚠
- p.Glu269Gln Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Gly166Asp Single submitter ⚠
- p.Gly223Ala Single submitter isolated hyperchlorhidrosis ⚠
- p.Gly29Asp Single submitter ⚠
- p.His119Tyr Single submitter isolated hyperchlorhidrosis ⚠
- p.His353Tyr Single submitter ⚠
- p.His7Gln Single submitter ⚠
- p.Ile146Phe Single submitter
- p.Ile174Thr Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile186Thr Single submitter ⚠
- p.Ile305Asn Single submitter ⚠
- p.Ile305Val Single submitter ⚠
- p.Leu54Pro Single submitter
- p.Leu71Phe Single submitter ⚠
- p.Lys279Asn Single submitter ⚠
- p.Phe289fs Single submitter isolated hyperchlorhidrosis
- p.Pro125Leu Single submitter ⚠
- p.Pro128Leu Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro48Ala Single submitter ⚠
- p.Pro48Leu Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Ser23Arg Single submitter ⚠
- p.Ser49Leu Single submitter ⚠
- p.Ser62Arg Single submitter ⚠
- p.Thr134Ser Single submitter ⚠
- p.Thr346Asn Single submitter ⚠
- p.Thr350Asn Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Trp32Arg Single submitter ⚠
- p.Val11Glu Single submitter
- p.Val169Ile Single submitter ⚠
- p.Val234Ala Single submitter ⚠
- p.Val294Ile Single submitter ⚠