CCKAR — 61 ClinVar variants
All ClinVar germline CCKAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
2 Benign · 2 Likely benign · 57 Uncertain significance
Full CCKAR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCKAR p.Ala142Glu Uncertain significance Single submitter
- CCKAR p.Ala142Val Uncertain significance Single submitter
- CCKAR p.Ala193Thr Uncertain significance Single submitter
- CCKAR p.Ala332Thr Uncertain significance Single submitter
- CCKAR p.Ala341Thr Uncertain significance Single submitter
- CCKAR p.Arg150Pro Uncertain significance Single submitter
- CCKAR p.Arg197Cys Uncertain significance Single submitter
- CCKAR p.Arg297Gln Uncertain significance Single submitter
- CCKAR p.Arg345His Uncertain significance Single submitter
- CCKAR p.Asn189Asp Uncertain significance Single submitter
- CCKAR p.Asn333Lys Uncertain significance Single submitter
- CCKAR p.Asp267Asn Uncertain significance Single submitter
- CCKAR p.Gln284Lys Uncertain significance Single submitter
- CCKAR p.Glu23Gly Uncertain significance Single submitter
- CCKAR p.Glu25Gln Uncertain significance Single submitter
- CCKAR p.Gly401Glu Uncertain significance Single submitter
- CCKAR p.Ile232Val Uncertain significance Single submitter
- CCKAR p.Ile312Met Uncertain significance Single submitter
- CCKAR p.Ile312Phe Uncertain significance Single submitter
- CCKAR p.Leu321Pro Uncertain significance Single submitter
- CCKAR p.Leu99Phe Uncertain significance Single submitter
- CCKAR p.Lys37Glu Uncertain significance Single submitter
- CCKAR p.Met327Val Uncertain significance Single submitter
- CCKAR p.Met421Lys Uncertain significance Single submitter
- CCKAR p.Met89Val Uncertain significance Single submitter
- CCKAR p.Met95Thr Uncertain significance Single submitter
- CCKAR p.Pro175Leu Uncertain significance Single submitter
- CCKAR p.Pro367Thr Uncertain significance Single submitter
- CCKAR p.Ser266Gly Uncertain significance Single submitter
- CCKAR p.Ser298Ile Uncertain significance Single submitter
- CCKAR p.Ser362Phe Uncertain significance Single submitter
- CCKAR p.Ser362Tyr Uncertain significance Single submitter
- CCKAR p.Thr118Ile Uncertain significance Single submitter
- CCKAR p.Thr154Ile Uncertain significance Single submitter
- CCKAR p.Trp166Leu Uncertain significance Single submitter
- CCKAR p.Trp39Arg Uncertain significance Single submitter
- CCKAR p.Tyr229His Uncertain significance Single submitter
- CCKAR p.Val127Ile Uncertain significance Single submitter
- CCKAR p.Val311Leu Uncertain significance Single submitter
- CCKAR p.Val317Ala Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CCKAR p.Arg313Cys Uncertain significance Single submitter
- CCKAR p.Arg336Trp Uncertain significance Single submitter
- CCKAR p.Arg376Gly Uncertain significance Single submitter
- CCKAR p.Asn190Lys Uncertain significance Single submitter
- CCKAR p.Asp203Gly Uncertain significance Single submitter
- CCKAR p.Cys388Phe Uncertain significance Single submitter
- CCKAR p.Glu402Gln Uncertain significance Single submitter
- CCKAR p.Leu8His Uncertain significance Single submitter
- CCKAR p.Met373Leu Uncertain significance Single submitter
- CCKAR p.Ser245Gly Uncertain significance Single submitter
- CCKAR p.Ser260Cys Uncertain significance Single submitter
- CCKAR p.Ser266Cys Uncertain significance Single submitter
- CCKAR p.Ser417Pro Uncertain significance Single submitter
- CCKAR p.Ser55Gly Uncertain significance Single submitter
- CCKAR p.Thr116Asn Uncertain significance Single submitter
- CCKAR p.Thr192Ile Uncertain significance Single submitter
- CCKAR p.Thr211Arg Uncertain significance Single submitter
All CCKAR variants
Benign 2
- p.Gly21Arg Single submitter
- p.Val365Ile Single submitter
Likely benign 2
- p.Arg275Lys Single submitter
- p.Leu217= Single submitter
Uncertain significance 57
- p.Ala142Glu Single submitter ⚠
- p.Ala142Val Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Arg150Pro Single submitter ⚠
- p.Arg197Cys Single submitter ⚠
- p.Arg297Gln Single submitter ⚠
- p.Arg313Cys Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg345His Single submitter ⚠
- p.Arg376Gly Single submitter ⚠
- p.Asn189Asp Single submitter ⚠
- p.Asn190Lys Single submitter ⚠
- p.Asn333Lys Single submitter ⚠
- p.Asp203Gly Single submitter ⚠
- p.Asp267Asn Single submitter ⚠
- p.Cys388Phe Single submitter ⚠
- p.Gln284Lys Single submitter ⚠
- p.Glu23Gly Single submitter ⚠
- p.Glu25Gln Single submitter ⚠
- p.Glu402Gln Single submitter ⚠
- p.Gly401Glu Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile312Met Single submitter ⚠
- p.Ile312Phe Single submitter ⚠
- p.Leu321Pro Single submitter ⚠
- p.Leu8His Single submitter ⚠
- p.Leu99Phe Single submitter ⚠
- p.Lys37Glu Single submitter ⚠
- p.Met327Val Single submitter ⚠
- p.Met373Leu Single submitter ⚠
- p.Met421Lys Single submitter ⚠
- p.Met89Val Single submitter ⚠
- p.Met95Thr Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro367Thr Single submitter ⚠
- p.Ser245Gly Single submitter ⚠
- p.Ser260Cys Single submitter ⚠
- p.Ser266Cys Single submitter ⚠
- p.Ser266Gly Single submitter ⚠
- p.Ser298Ile Single submitter ⚠
- p.Ser362Phe Single submitter ⚠
- p.Ser362Tyr Single submitter ⚠
- p.Ser417Pro Single submitter ⚠
- p.Ser55Gly Single submitter ⚠
- p.Thr116Asn Single submitter ⚠
- p.Thr118Ile Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr211Arg Single submitter ⚠
- p.Trp166Leu Single submitter ⚠
- p.Trp39Arg Single submitter ⚠
- p.Tyr229His Single submitter ⚠
- p.Val127Ile Single submitter ⚠
- p.Val311Leu Single submitter ⚠
- p.Val317Ala Single submitter ⚠