CCKBR — 70 ClinVar variants
All ClinVar germline CCKBR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
1 Pathogenic · 2 Benign · 1 Likely benign · 66 Uncertain significance
Full CCKBR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCKBR p.Ala106Val Uncertain significance Single submitter
- CCKBR p.Ala147Thr Uncertain significance Single submitter
- CCKBR p.Ala171Pro Uncertain significance Single submitter
- CCKBR p.Ala19Thr Uncertain significance Single submitter
- CCKBR p.Ala26Thr Uncertain significance Single submitter
- CCKBR p.Ala415Thr Uncertain significance Single submitter
- CCKBR p.Ala62Thr Uncertain significance Single submitter
- CCKBR p.Ala97Thr Uncertain significance Single submitter
- CCKBR p.Arg201His Uncertain significance Single submitter
- CCKBR p.Arg264Gly Uncertain significance Single submitter
- CCKBR p.Arg278Ser Uncertain significance Single submitter
- CCKBR p.Arg301Leu Uncertain significance Single submitter
- CCKBR p.Arg395Pro Uncertain significance Single submitter
- CCKBR p.Asn115Ser Uncertain significance Single submitter
- CCKBR p.Asn265Tyr Uncertain significance Single submitter
- CCKBR p.Cys39Gly Uncertain significance Single submitter
- CCKBR p.Cys409Arg Uncertain significance Single submitter
- CCKBR p.Gln196Leu Uncertain significance Single submitter
- CCKBR p.Gln296Pro Uncertain significance Single submitter
- CCKBR p.Glu40Lys Uncertain significance Single submitter
- CCKBR p.Glu423Asp Uncertain significance Single submitter
- CCKBR p.Gly271Val Uncertain significance Single submitter
- CCKBR p.Gly277Ala Uncertain significance Single submitter
- CCKBR p.Gly48Arg Uncertain significance Single submitter
- CCKBR p.Ile430Thr Uncertain significance Single submitter
- CCKBR p.Ile441Val Uncertain significance Single submitter
- CCKBR p.Ile64Val Uncertain significance Single submitter
- CCKBR p.Ile76Val Uncertain significance Single submitter
- CCKBR p.Leu101Phe Uncertain significance Single submitter
- CCKBR p.Leu103Pro Uncertain significance Single submitter
- CCKBR p.Leu150Pro Uncertain significance Single submitter
- CCKBR p.Leu184Pro Uncertain significance Single submitter
- CCKBR p.Leu3Arg Uncertain significance Single submitter
- CCKBR p.Met73Ile Uncertain significance Single submitter
- CCKBR p.Met73Thr Uncertain significance Single submitter
- CCKBR p.Pro270Leu Uncertain significance Single submitter
- CCKBR p.Pro371Ser Uncertain significance Single submitter
- CCKBR p.Pro41Ser Uncertain significance Single submitter
- CCKBR p.Pro425Leu Uncertain significance Single submitter
- CCKBR p.Pro425Ser Uncertain significance Single submitter
- CCKBR p.Pro42Ser Uncertain significance Single submitter
- CCKBR p.Ser255Cys Uncertain significance Single submitter
- CCKBR p.Ser290Arg Uncertain significance Single submitter
- CCKBR p.Ser351Thr Uncertain significance Single submitter
- CCKBR p.Ser442Gly Uncertain significance Single submitter
- CCKBR p.Thr404Ala Uncertain significance Single submitter
- CCKBR p.Thr427Ser Uncertain significance Single submitter
- CCKBR p.Thr59Ala Uncertain significance Single submitter
- CCKBR p.Trp179Gly Uncertain significance Single submitter
- CCKBR p.Val136Leu Uncertain significance Single submitter
- CCKBR p.Val140Ala Uncertain significance Single submitter
- CCKBR p.Val295Ala Uncertain significance Single submitter
- CCKBR p.Val295Gly Uncertain significance Single submitter
- CCKBR p.Val77Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CCKBR p.Arg301Trp Uncertain significance Single submitter
- CCKBR p.Asn386Ser Uncertain significance Single submitter
- CCKBR p.Cys293Arg Uncertain significance Single submitter
- CCKBR p.Cys408Tyr Uncertain significance Single submitter
- CCKBR p.Ile241Val Uncertain significance Single submitter
- CCKBR p.Ile64Met Uncertain significance Single submitter
- CCKBR p.Leu221Pro Uncertain significance Single submitter
- CCKBR p.Leu94Phe Uncertain significance Single submitter
- CCKBR p.Met234Thr Uncertain significance Single submitter
- CCKBR p.Thr440Ile Uncertain significance Single submitter
All CCKBR variants
Pathogenic 1
- p.Met234Arg No assertion criteria hypercholesterolemia, familial, 1
Benign 2
- c.404-10C>G Single submitter
- p.Leu37Phe Single submitter
Likely benign 1
- p.Leu133Phe Single submitter
Uncertain significance 66
- p.Ala106Val Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala171Pro Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala26Thr Single submitter ⚠
- p.Ala415Thr Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Arg201His Single submitter ⚠
- p.Arg264Gly Single submitter ⚠
- p.Arg278Ser Single submitter ⚠
- p.Arg301Leu Single submitter ⚠
- p.Arg301Trp Single submitter ⚠
- p.Arg395Pro Single submitter ⚠
- p.Arg396Gly Single submitter
- p.Arg83Cys Single submitter
- p.Asn115Ser Single submitter ⚠
- p.Asn265Tyr Single submitter ⚠
- p.Asn386Ser Single submitter ⚠
- p.Cys293Arg Single submitter ⚠
- p.Cys39Gly Single submitter ⚠
- p.Cys408Tyr Single submitter ⚠
- p.Cys409Arg Single submitter ⚠
- p.Gln196Leu Single submitter ⚠
- p.Gln296Pro Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu423Asp Single submitter ⚠
- p.Gly271Val Single submitter ⚠
- p.Gly277Ala Single submitter ⚠
- p.Gly48Arg Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile430Thr Single submitter ⚠
- p.Ile441Val Single submitter ⚠
- p.Ile64Met Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Leu101Phe Single submitter ⚠
- p.Leu103Pro Single submitter ⚠
- p.Leu150Pro Single submitter ⚠
- p.Leu184Pro Single submitter ⚠
- p.Leu221Pro Single submitter ⚠
- p.Leu3Arg Single submitter ⚠
- p.Leu94Phe Single submitter ⚠
- p.Met234Thr Single submitter ⚠
- p.Met73Ile Single submitter ⚠
- p.Met73Thr Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro371Ser Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro425Leu Single submitter ⚠
- p.Pro425Ser Single submitter ⚠
- p.Pro42Ser Single submitter ⚠
- p.Ser255Cys Single submitter ⚠
- p.Ser290Arg Single submitter ⚠
- p.Ser351Thr Single submitter ⚠
- p.Ser442Gly Single submitter ⚠
- p.Thr404Ala Single submitter ⚠
- p.Thr427Ser Single submitter ⚠
- p.Thr440Ile Single submitter ⚠
- p.Thr59Ala Single submitter ⚠
- p.Trp179Gly Single submitter ⚠
- p.Val136Leu Single submitter ⚠
- p.Val140Ala Single submitter ⚠
- p.Val295Ala Single submitter ⚠
- p.Val295Gly Single submitter ⚠
- p.Val77Leu Single submitter ⚠