C2CD2 — 86 ClinVar variants

All ClinVar germline C2CD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

5 Benign · 9 Likely benign · 72 Uncertain significance

Full C2CD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 51

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

Predictors split 21

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

All C2CD2 variants

Benign 5

p.Pro104= Multiple submitters
c.1870+8C>T Single submitter
p.Ala563= Single submitter
p.Arg336= Single submitter
p.Val429= Single submitter

Likely benign 9

p.Ala220Val Single submitter
p.Ala239Val Single submitter
p.Gly221Ser Single submitter
p.Ile447Val Single submitter
p.Leu598Pro Single submitter
p.Pro186= Single submitter
p.Pro308Thr Single submitter
p.Pro572Leu Single submitter
p.Thr536Met Single submitter

Uncertain significance 72

p.Ala123Val Single submitter ⚠
p.Ala136Gly Single submitter ⚠
p.Ala146Val Single submitter ⚠
p.Ala189Thr Single submitter ⚠
p.Ala207Val Single submitter ⚠
p.Ala345Val Single submitter ⚠
p.Ala466Thr Single submitter ⚠
p.Ala492Val Single submitter ⚠
p.Ala591Glu Single submitter ⚠
p.Arg105Trp Single submitter ⚠
p.Arg152Trp Single submitter ⚠
p.Arg336Gln Single submitter ⚠
p.Arg428Cys Single submitter ⚠
p.Arg464Leu Single submitter ⚠
p.Arg508Trp Single submitter ⚠
p.Arg636Cys Single submitter ⚠
p.Arg637Gln Single submitter ⚠
p.Arg637Trp Single submitter ⚠
p.Arg638Gln Single submitter ⚠
p.Arg663Gln Single submitter ⚠
p.Arg663Gly Single submitter ⚠
p.Asp294Asn Single submitter ⚠
p.Asp643Glu Single submitter ⚠
p.Gln177His Single submitter ⚠
p.Gln201Arg Single submitter ⚠
p.Glu171Asp Single submitter ⚠
p.Glu204Ala Single submitter ⚠
p.Glu262Lys Single submitter ⚠
p.Glu578Lys Single submitter ⚠
p.Gly148Ser Single submitter ⚠
p.Gly279Ser Single submitter ⚠
p.Gly282Val Single submitter ⚠
p.Gly371Ser Single submitter ⚠
p.Gly630Ala Single submitter ⚠
p.Ile215Val Single submitter ⚠
p.Ile626Leu Single submitter ⚠
p.Leu147Phe Single submitter ⚠
p.Leu242Ser Single submitter ⚠
p.Leu275Phe Single submitter ⚠
p.Leu437Gln Single submitter ⚠
p.Leu504Phe Single submitter ⚠
p.Lys195Glu Single submitter ⚠
p.Lys232Thr Single submitter ⚠
p.Lys448Met Single submitter ⚠
p.Lys510Glu Single submitter ⚠
p.Pro308Leu Single submitter ⚠
p.Pro356Leu Single submitter ⚠
p.Pro397Ser Single submitter ⚠
p.Pro398Leu Single submitter ⚠
p.Pro442Leu Single submitter ⚠
p.Pro548Ser Single submitter ⚠
p.Pro551Leu Single submitter ⚠
p.Pro644Thr Single submitter ⚠
p.Pro691Ser Single submitter ⚠
p.Ser184Gly Single submitter ⚠
p.Ser368Thr Single submitter ⚠
p.Ser373Leu Single submitter ⚠
p.Ser438Ile Single submitter ⚠
p.Ser441Cys Single submitter ⚠
p.Ser607Leu Single submitter ⚠
p.Ser647Arg Single submitter ⚠
p.Thr144Met Single submitter ⚠
p.Thr234Met Single submitter ⚠
p.Thr304Met Single submitter ⚠
p.Thr425Ala Single submitter ⚠
p.Thr668Ser Single submitter ⚠
p.Val129Ile Single submitter ⚠
p.Val211Ile Single submitter ⚠
p.Val287Ala Single submitter ⚠
p.Val289Ile Single submitter ⚠
p.Val399Leu Single submitter ⚠
p.Val410Leu Single submitter ⚠