CKAP2 — 99 ClinVar variants

All ClinVar germline CKAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →

5 Benign · 9 Likely benign · 85 Uncertain significance

Full CKAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 87

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 59

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 28

The independent predictors disagree with each other — read with care.

All CKAP2 variants

Benign 5

p.Asn386Asp Multiple submitters
p.Thr312= Multiple submitters
c.70+10GCGGTG[5] Single submitter
p.Asn110Ser Single submitter
p.Glu517Lys Single submitter

Likely benign 9

p.Ala326Val Single submitter
p.Arg264Gln Single submitter
p.Asn230Asp Single submitter ⚠
p.His260Tyr Single submitter
p.Ile211Val Single submitter
p.Pro127Leu Single submitter
p.Pro212Ser Single submitter
p.Ser153Gly Single submitter ⚠
p.Val340Ile Single submitter

Uncertain significance 85

p.Arg628Gln Multiple submitters ⚠
p.Ala214Ser Single submitter ⚠
p.Ala326Thr Single submitter ⚠
p.Ala347Ser Single submitter ⚠
p.Ala350Thr Single submitter ⚠
p.Ala614Ser Single submitter ⚠
p.Ala614Thr Single submitter ⚠
p.Arg179His Single submitter ⚠
p.Arg253Leu Single submitter ⚠
p.Arg273Ile Single submitter ⚠
p.Arg281Trp Single submitter ⚠
p.Arg343Gln Single submitter ⚠
p.Arg369Cys Single submitter ⚠
p.Arg379Gly Single submitter ⚠
p.Arg629Cys Single submitter ⚠
p.Arg667Cys Single submitter ⚠
p.Arg674Trp Single submitter ⚠
p.Asn234Ser Single submitter ⚠
p.Asn330Asp Single submitter ⚠
p.Asp455Gly Single submitter ⚠
p.Asp571Asn Single submitter ⚠
p.Asp643Glu Single submitter ⚠
p.Asp79Asn Single submitter ⚠
p.Cys561Phe Single submitter ⚠
p.Cys99Arg Single submitter ⚠
p.Cys99Tyr Single submitter ⚠
p.Gln291Lys Single submitter ⚠
p.Gln492Leu Single submitter ⚠
p.Gln600Glu Single submitter ⚠
p.Glu420Lys Single submitter ⚠
p.Glu652Lys Single submitter ⚠
p.Glu66Gly Single submitter ⚠
p.Gly658Arg Single submitter ⚠
p.His260Leu Single submitter ⚠
p.His260Pro Single submitter ⚠
p.His285Gln Single submitter ⚠
p.His499Tyr Single submitter ⚠
p.His553Arg Single submitter ⚠
p.Ile100Val Single submitter ⚠
p.Ile317Val Single submitter ⚠
p.Ile464Val Single submitter ⚠
p.Ile469Thr Single submitter ⚠
p.Ile476Val Single submitter ⚠
p.Leu251Val Single submitter ⚠
p.Leu296Ser Single submitter ⚠
p.Leu313Pro Single submitter ⚠
p.Leu370Val Single submitter ⚠
p.Leu40Pro Single submitter ⚠
p.Leu446Arg Single submitter ⚠
p.Lys213Glu Single submitter ⚠
p.Lys268Gln Single submitter ⚠
p.Lys44Arg Single submitter ⚠
p.Lys457Glu Single submitter ⚠
p.Lys461Gln Single submitter ⚠
p.Lys526Thr Single submitter ⚠
p.Lys570Gln Single submitter ⚠
p.Lys619Glu Single submitter ⚠
p.Lys633Thr Single submitter ⚠
p.Lys69Glu Single submitter ⚠
p.Lys72Thr Single submitter ⚠
p.Pro173Arg Single submitter ⚠
p.Pro173Ser Single submitter ⚠
p.Pro384Ser Single submitter ⚠
p.Pro438Thr Single submitter ⚠
p.Pro493Ala Single submitter ⚠
p.Pro638Ser Single submitter ⚠
p.Pro646Ser Single submitter ⚠
p.Pro7Leu Single submitter ⚠
p.Thr126Ile Single submitter ⚠
p.Thr142Pro Single submitter ⚠
p.Thr239Pro Single submitter ⚠
p.Thr346Ala Single submitter ⚠
p.Thr390Ala Single submitter ⚠
p.Thr425Pro Single submitter ⚠
p.Thr473Ala Single submitter ⚠
p.Thr500Met Single submitter ⚠
p.Thr634Ser Single submitter ⚠
p.Tyr43Cys Single submitter ⚠
p.Tyr677Cys Single submitter ⚠
p.Val113Leu Single submitter ⚠
p.Val278Asp Single submitter ⚠
p.Val321Ala Single submitter ⚠
p.Val340Ala Single submitter ⚠
p.Val352Ala Single submitter ⚠
p.Val444Ile Single submitter ⚠