CCAR2 — 177 ClinVar variants
All ClinVar germline CCAR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
1 Conflicting · 14 Benign · 26 Likely benign · 136 Uncertain significance
Full CCAR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCAR2 p.Ala214Ser Uncertain significance Single submitter
- CCAR2 p.Ala293Gly Uncertain significance Single submitter
- CCAR2 p.Ala388Val Uncertain significance Single submitter
- CCAR2 p.Ala470Thr Uncertain significance Single submitter
- CCAR2 p.Ala666Val Uncertain significance Single submitter
- CCAR2 p.Ala738Thr Uncertain significance Single submitter
- CCAR2 p.Ala738Val Uncertain significance Single submitter
- CCAR2 p.Ala795Ser Uncertain significance Single submitter
- CCAR2 p.Ala819Val Uncertain significance Single submitter
- CCAR2 p.Ala858Val Uncertain significance Single submitter
- CCAR2 p.Ala869Thr Uncertain significance Single submitter
- CCAR2 p.Ala920Val Uncertain significance Single submitter
- CCAR2 p.Arg184Trp Uncertain significance Single submitter
- CCAR2 p.Arg336Lys Uncertain significance Single submitter
- CCAR2 p.Arg386Cys Uncertain significance Single submitter
- CCAR2 p.Arg418Trp Uncertain significance Single submitter
- CCAR2 p.Arg512His Uncertain significance Single submitter
- CCAR2 p.Arg56Gln Uncertain significance Single submitter
- CCAR2 p.Arg735Gln Uncertain significance Single submitter
- CCAR2 p.Arg880Gln Uncertain significance Single submitter
- CCAR2 p.Arg893Cys Uncertain significance Single submitter
- CCAR2 p.Arg905Gln Uncertain significance Single submitter
- CCAR2 p.Asn604Asp Uncertain significance Single submitter
- CCAR2 p.Asn806Ser Uncertain significance Single submitter
- CCAR2 p.Asp292Gly Uncertain significance Single submitter
- CCAR2 p.Asp496Glu Uncertain significance Single submitter
- CCAR2 p.Gln345Arg Uncertain significance Single submitter
- CCAR2 p.Gln345His Uncertain significance Single submitter
- CCAR2 p.Gln412Leu Uncertain significance Single submitter
- CCAR2 p.Gln743Arg Uncertain significance Single submitter
- CCAR2 p.Gln751Pro Uncertain significance Single submitter
- CCAR2 p.Gln755Pro Uncertain significance Single submitter
- CCAR2 p.Glu492Asp Uncertain significance Single submitter
- CCAR2 p.Glu837Gln Uncertain significance Single submitter
- CCAR2 p.Glu879Gln Uncertain significance Single submitter
- CCAR2 p.Gly20Ala Uncertain significance Single submitter
- CCAR2 p.Gly28Asp Uncertain significance Single submitter
- CCAR2 p.Gly32Ala Uncertain significance Single submitter
- CCAR2 p.Gly398Ser Uncertain significance Single submitter
- CCAR2 p.Gly514Ser Uncertain significance Single submitter
- CCAR2 p.Gly606Ser Uncertain significance Single submitter
- CCAR2 p.Gly793Val Uncertain significance Single submitter
- CCAR2 p.His171Gln Uncertain significance Single submitter
- CCAR2 p.His174Gln Uncertain significance Single submitter
- CCAR2 p.Ile728Val Uncertain significance Single submitter
- CCAR2 p.Ile753Leu Uncertain significance Single submitter
- CCAR2 p.Leu471Val Uncertain significance Single submitter
- CCAR2 p.Leu759Ile Uncertain significance Single submitter
- CCAR2 p.Lys287Asn Uncertain significance Single submitter
- CCAR2 p.Lys558Arg Uncertain significance Single submitter
- CCAR2 p.Lys575Glu Uncertain significance Single submitter
- CCAR2 p.Lys616Glu Uncertain significance Single submitter
- CCAR2 p.Lys634Asn Uncertain significance Single submitter
- CCAR2 p.Lys855Arg Uncertain significance Single submitter
- CCAR2 p.Lys916Glu Uncertain significance Single submitter
- CCAR2 p.Met538Val Uncertain significance Single submitter
- CCAR2 p.Met683Ile Uncertain significance Single submitter
- CCAR2 p.Met683Thr Uncertain significance Single submitter
- CCAR2 p.Pro211Ser Uncertain significance Single submitter
- CCAR2 p.Pro36Ser Uncertain significance Single submitter
- CCAR2 p.Pro504Ala Uncertain significance Single submitter
- CCAR2 p.Pro570Gln Uncertain significance Single submitter
- CCAR2 p.Pro607Leu Uncertain significance Single submitter
- CCAR2 p.Pro614Gln Uncertain significance Single submitter
- CCAR2 p.Pro635Thr Uncertain significance Single submitter
- CCAR2 p.Pro697Ala Uncertain significance Single submitter
- CCAR2 p.Pro919Ser Uncertain significance Single submitter
- CCAR2 p.Pro921Leu Uncertain significance Single submitter
- CCAR2 p.Ser176Asn Uncertain significance Single submitter
- CCAR2 p.Ser308Ala Uncertain significance Single submitter
- CCAR2 p.Ser922Gly Uncertain significance Single submitter
- CCAR2 p.Thr229Ser Uncertain significance Single submitter
- CCAR2 p.Thr232Ala Uncertain significance Single submitter
- CCAR2 p.Thr338Met Uncertain significance Single submitter
- CCAR2 p.Thr400Ser Uncertain significance Single submitter
- CCAR2 p.Thr40Pro Uncertain significance Single submitter
- CCAR2 p.Thr489Lys Uncertain significance Single submitter
- CCAR2 p.Thr835Ala Uncertain significance Single submitter
- CCAR2 p.Tyr198Ser Uncertain significance Single submitter
- CCAR2 p.Tyr410His Uncertain significance Single submitter
- CCAR2 p.Val329Leu Uncertain significance Single submitter
- CCAR2 p.Val568Leu Uncertain significance Single submitter
- CCAR2 p.Val57Ala Uncertain significance Single submitter
- CCAR2 p.Val594Glu Uncertain significance Single submitter
- CCAR2 p.Val914Met Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
- CCAR2 p.Ala447Pro Uncertain significance Single submitter
- CCAR2 p.Ala447Val Uncertain significance Single submitter
- CCAR2 p.Ala448Val Uncertain significance Single submitter
- CCAR2 p.Ala578Thr Uncertain significance Single submitter
- CCAR2 p.Ala878Val Uncertain significance Single submitter
- CCAR2 p.Arg245Cys Uncertain significance Single submitter
- CCAR2 p.Arg248Cys Uncertain significance Single submitter
- CCAR2 p.Arg480Trp Uncertain significance Single submitter
- CCAR2 p.Arg757Gln Uncertain significance Single submitter
- CCAR2 p.Arg876Trp Uncertain significance Single submitter
- CCAR2 p.Arg905Trp Uncertain significance Single submitter
- CCAR2 p.Asn854Ser Uncertain significance Single submitter
- CCAR2 p.Asp303Gly Uncertain significance Single submitter
- CCAR2 p.Asp469Tyr Benign Single submitter
- CCAR2 p.Gln760His Uncertain significance Single submitter
- CCAR2 p.Glu354Gln Uncertain significance Single submitter
- CCAR2 p.Glu449Gly Uncertain significance Single submitter
- CCAR2 p.Glu492Lys Uncertain significance Single submitter
- CCAR2 p.Glu592Gly Uncertain significance Single submitter
- CCAR2 p.Glu592Lys Uncertain significance Single submitter
- CCAR2 p.Glu605Asp Uncertain significance Single submitter
- CCAR2 p.Gly414Arg Uncertain significance Single submitter
- CCAR2 p.Gly51Asp Uncertain significance Single submitter
- CCAR2 p.His153Gln Uncertain significance Single submitter
- CCAR2 p.Leu175Val Uncertain significance Single submitter
- CCAR2 p.Leu419Phe Uncertain significance Single submitter
- CCAR2 p.Leu654Phe Uncertain significance Single submitter
- CCAR2 p.Leu783Pro Uncertain significance Single submitter
- CCAR2 p.Leu885Phe Uncertain significance Single submitter
- CCAR2 p.Lys580Arg Uncertain significance Single submitter
- CCAR2 p.Lys585Arg Uncertain significance Single submitter
- CCAR2 p.Phe267Leu Uncertain significance Single submitter
- CCAR2 p.Pro253Ser Uncertain significance Single submitter
- CCAR2 p.Pro268Thr Uncertain significance Single submitter
- CCAR2 p.Pro413Leu Uncertain significance Single submitter
- CCAR2 p.Pro468Leu Uncertain significance Single submitter
- CCAR2 p.Pro503Leu Uncertain significance Single submitter
- CCAR2 p.Pro504Arg Uncertain significance Single submitter
- CCAR2 p.Pro504His Uncertain significance Single submitter
- CCAR2 p.Pro504Thr Uncertain significance Single submitter
- CCAR2 p.Pro570Leu Uncertain significance Single submitter
- CCAR2 p.Pro607Arg Uncertain significance Single submitter
- CCAR2 p.Pro919Leu Uncertain significance Single submitter
- CCAR2 p.Ser274Tyr Uncertain significance Single submitter
- CCAR2 p.Ser397Arg Uncertain significance Single submitter
- CCAR2 p.Ser478Phe Uncertain significance Single submitter
- CCAR2 p.Ser737Cys Uncertain significance Single submitter
- CCAR2 p.Thr435Ala Uncertain significance Single submitter
- CCAR2 p.Thr461Met Likely benign Single submitter
- CCAR2 p.Thr493Met Likely benign Single submitter
- CCAR2 p.Val423Met Uncertain significance Single submitter
- CCAR2 p.Val568Met Uncertain significance Single submitter
- CCAR2 p.Val866Ile Uncertain significance Single submitter
-
CCAR2 p.Gln603His
Benign
No assertion criteria
CCAR2-related disorder
-
CCAR2 p.Glu577Ala
Likely benign
No assertion criteria
CCAR2-related disorder
All CCAR2 variants
Conflicting classifications of pathogenicity 1
- p.Pro785Ala Single submitter ⚠
Benign 14
- p.Ala388= Multiple submitters
- p.Ala794= Multiple submitters
- c.2074-8C>T Single submitter
- p.Asp469Tyr Single submitter ⚠
- c.150+8C>G No assertion criteria CCAR2-related disorder
- c.1609-5A>G No assertion criteria CCAR2-related disorder
- p.Ala406= No assertion criteria CCAR2-related disorder
- p.Ala819= No assertion criteria CCAR2-related disorder
- p.Asp469= No assertion criteria CCAR2-related disorder
- p.Gln603His No assertion criteria CCAR2-related disorder ⚠
- p.Gly28= No assertion criteria CCAR2-related disorder
- p.Gly637= No assertion criteria CCAR2-related disorder
- p.Pro607= No assertion criteria CCAR2-related disorder
- p.Ser308= No assertion criteria CCAR2-related disorder
Likely benign 26
- p.Arg336= Multiple submitters
- c.1845+3G>A Single submitter
- c.2727+12dup Single submitter
- c.2728-5_2728-2dup Single submitter
- p.Ala578= Single submitter
- p.Ile237Thr Single submitter
- p.Ile237Val Single submitter
- p.Ile510Met Single submitter
- p.Lys401= Single submitter
- p.Thr461Met Single submitter ⚠
- p.Thr493Met Single submitter ⚠
- c.2522-3C>T No assertion criteria CCAR2-related disorder
- c.705-8dup No assertion criteria CCAR2-related disorder
- p.Arg418Gln No assertion criteria CCAR2-related disorder
- p.Asp292= No assertion criteria CCAR2-related disorder
- p.Asp372= No assertion criteria CCAR2-related disorder
- p.Glu354= No assertion criteria CCAR2-related disorder
- p.Glu577Ala No assertion criteria CCAR2-related disorder ⚠
- p.Ile510= No assertion criteria CCAR2-related disorder
- p.Leu173= No assertion criteria CCAR2-related disorder
- p.Lys791= No assertion criteria CCAR2-related disorder
- p.Phe847= No assertion criteria CCAR2-related disorder
- p.Pro11= No assertion criteria CCAR2-related disorder
- p.Pro772= No assertion criteria CCAR2-related disorder
- p.Thr338= No assertion criteria CCAR2-related disorder
- p.Thr493= No assertion criteria CCAR2-related disorder
Uncertain significance 136
- c.927+38G>C Single submitter
- p.Ala214Ser Single submitter ⚠
- p.Ala293Gly Single submitter ⚠
- p.Ala388Val Single submitter ⚠
- p.Ala447Pro Single submitter ⚠
- p.Ala447Val Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Ala578Thr Single submitter ⚠
- p.Ala666Val Single submitter ⚠
- p.Ala738Thr Single submitter ⚠
- p.Ala738Val Single submitter ⚠
- p.Ala795Ser Single submitter ⚠
- p.Ala819Val Single submitter ⚠
- p.Ala858Val Single submitter ⚠
- p.Ala869Thr Single submitter ⚠
- p.Ala878Val Single submitter ⚠
- p.Ala920Val Single submitter ⚠
- p.Arg184Trp Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg248Cys Single submitter ⚠
- p.Arg336Lys Single submitter ⚠
- p.Arg386Cys Single submitter ⚠
- p.Arg418Trp Single submitter ⚠
- p.Arg480Trp Single submitter ⚠
- p.Arg512His Single submitter ⚠
- p.Arg56Gln Single submitter ⚠
- p.Arg735Gln Single submitter ⚠
- p.Arg757Gln Single submitter ⚠
- p.Arg876Trp Single submitter ⚠
- p.Arg880Gln Single submitter ⚠
- p.Arg893Cys Single submitter ⚠
- p.Arg905Gln Single submitter ⚠
- p.Arg905Trp Single submitter ⚠
- p.Asn604Asp Single submitter ⚠
- p.Asn806Ser Single submitter ⚠
- p.Asn854Ser Single submitter ⚠
- p.Asp292Gly Single submitter ⚠
- p.Asp303Gly Single submitter ⚠
- p.Asp496Glu Single submitter ⚠
- p.Gln345Arg Single submitter ⚠
- p.Gln345His Single submitter ⚠
- p.Gln412Leu Single submitter ⚠
- p.Gln743Arg Single submitter ⚠
- p.Gln751Pro Single submitter ⚠
- p.Gln755Pro Single submitter ⚠
- p.Gln760His Single submitter ⚠
- p.Glu354Gln Single submitter ⚠
- p.Glu449Gly Single submitter ⚠
- p.Glu492Asp Single submitter ⚠
- p.Glu492Lys Single submitter ⚠
- p.Glu592Gly Single submitter ⚠
- p.Glu592Lys Single submitter ⚠
- p.Glu605Asp Single submitter ⚠
- p.Glu837Gln Single submitter ⚠
- p.Glu879Gln Single submitter ⚠
- p.Gly20Ala Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly32Ala Single submitter ⚠
- p.Gly398Ser Single submitter ⚠
- p.Gly414Arg Single submitter ⚠
- p.Gly514Ser Single submitter ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly606Ser Single submitter ⚠
- p.Gly793Val Single submitter ⚠
- p.His153Gln Single submitter ⚠
- p.His171Gln Single submitter ⚠
- p.His174Gln Single submitter ⚠
- p.Ile728Val Single submitter ⚠
- p.Ile753Leu Single submitter ⚠
- p.Leu175Val Single submitter ⚠
- p.Leu419Phe Single submitter ⚠
- p.Leu471Val Single submitter ⚠
- p.Leu654Phe Single submitter ⚠
- p.Leu759Ile Single submitter ⚠
- p.Leu783Pro Single submitter ⚠
- p.Leu885Phe Single submitter ⚠
- p.Lys287Asn Single submitter ⚠
- p.Lys558Arg Single submitter ⚠
- p.Lys575Glu Single submitter ⚠
- p.Lys580Arg Single submitter ⚠
- p.Lys585Arg Single submitter ⚠
- p.Lys616Glu Single submitter ⚠
- p.Lys634Asn Single submitter ⚠
- p.Lys855Arg Single submitter ⚠
- p.Lys916Glu Single submitter ⚠
- p.Met538Val Single submitter ⚠
- p.Met683Ile Single submitter ⚠
- p.Met683Thr Single submitter ⚠
- p.Phe267Leu Single submitter ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro253Ser Single submitter ⚠
- p.Pro268Thr Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro468Leu Single submitter ⚠
- p.Pro503Leu Single submitter ⚠
- p.Pro504Ala Single submitter ⚠
- p.Pro504Arg Single submitter ⚠
- p.Pro504His Single submitter ⚠
- p.Pro504Thr Single submitter ⚠
- p.Pro570Gln Single submitter ⚠
- p.Pro570Leu Single submitter ⚠
- p.Pro607Arg Single submitter ⚠
- p.Pro607Leu Single submitter ⚠
- p.Pro614Gln Single submitter ⚠
- p.Pro635Thr Single submitter ⚠
- p.Pro697Ala Single submitter ⚠
- p.Pro919Leu Single submitter ⚠
- p.Pro919Ser Single submitter ⚠
- p.Pro921Leu Single submitter ⚠
- p.Ser176Asn Single submitter ⚠
- p.Ser274Tyr Single submitter ⚠
- p.Ser308Ala Single submitter ⚠
- p.Ser397Arg Single submitter ⚠
- p.Ser478Phe Single submitter ⚠
- p.Ser737Cys Single submitter ⚠
- p.Ser922Gly Single submitter ⚠
- p.Thr229Ser Single submitter ⚠
- p.Thr232Ala Single submitter ⚠
- p.Thr338Met Single submitter ⚠
- p.Thr400Ser Single submitter ⚠
- p.Thr40Pro Single submitter ⚠
- p.Thr435Ala Single submitter ⚠
- p.Thr489Lys Single submitter ⚠
- p.Thr835Ala Single submitter ⚠
- p.Tyr198Ser Single submitter ⚠
- p.Tyr410His Single submitter ⚠
- p.Val329Leu Single submitter ⚠
- p.Val423Met Single submitter ⚠
- p.Val568Leu Single submitter ⚠
- p.Val568Met Single submitter ⚠
- p.Val57Ala Single submitter ⚠
- p.Val594Glu Single submitter ⚠
- p.Val866Ile Single submitter ⚠
- p.Val914Met Single submitter ⚠