C2CD2L — 110 ClinVar variants
All ClinVar germline C2CD2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
2 Benign · 6 Likely benign · 102 Uncertain significance
Full C2CD2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2CD2L p.Ala173Thr Uncertain significance Single submitter
- C2CD2L p.Ala245Ser Uncertain significance Single submitter
- C2CD2L p.Ala245Thr Uncertain significance Single submitter
- C2CD2L p.Ala326Val Uncertain significance Single submitter
- C2CD2L p.Ala524Thr Uncertain significance Single submitter
- C2CD2L p.Ala53Ser Uncertain significance Single submitter
- C2CD2L p.Ala545Val Uncertain significance Single submitter
- C2CD2L p.Ala626Val Uncertain significance Single submitter
- C2CD2L p.Ala669Val Uncertain significance Single submitter
- C2CD2L p.Ala679Val Uncertain significance Single submitter
- C2CD2L p.Ala79Ser Uncertain significance Single submitter
- C2CD2L p.Ala94Gly Uncertain significance Single submitter
- C2CD2L p.Arg104Gln Uncertain significance Single submitter
- C2CD2L p.Arg212Cys Uncertain significance Single submitter
- C2CD2L p.Arg212His Uncertain significance Single submitter
- C2CD2L p.Arg228Lys Uncertain significance Single submitter
- C2CD2L p.Arg294Gln Uncertain significance Single submitter
- C2CD2L p.Arg347Gln Uncertain significance Single submitter
- C2CD2L p.Arg381Gln Uncertain significance Single submitter
- C2CD2L p.Arg437Gln Uncertain significance Single submitter
- C2CD2L p.Arg437Trp Uncertain significance Single submitter
- C2CD2L p.Arg43Leu Uncertain significance Single submitter
- C2CD2L p.Arg457Cys Uncertain significance Single submitter
- C2CD2L p.Arg457His Uncertain significance Single submitter
- C2CD2L p.Arg630His Uncertain significance Single submitter
- C2CD2L p.Arg641Pro Uncertain significance Single submitter
- C2CD2L p.Arg676Gly Uncertain significance Single submitter
- C2CD2L p.Arg67Pro Uncertain significance Single submitter
- C2CD2L p.Arg76Gln Uncertain significance Single submitter
- C2CD2L p.Asn117Lys Uncertain significance Single submitter
- C2CD2L p.Asn256Ser Uncertain significance Single submitter
- C2CD2L p.Asp144Asn Uncertain significance Single submitter
- C2CD2L p.Asp45Ala Uncertain significance Single submitter
- C2CD2L p.Gln190Glu Uncertain significance Single submitter
- C2CD2L p.Glu484Asp Uncertain significance Single submitter
- C2CD2L p.Gly229Asp Uncertain significance Single submitter
- C2CD2L p.Gly264Arg Uncertain significance Single submitter
- C2CD2L p.Gly410Ser Uncertain significance Single submitter
- C2CD2L p.Gly54Arg Uncertain significance Single submitter
- C2CD2L p.Gly572Ser Uncertain significance Single submitter
- C2CD2L p.Leu39Arg Uncertain significance Single submitter
- C2CD2L p.Leu591Arg Uncertain significance Single submitter
- C2CD2L p.Leu60Pro Uncertain significance Single submitter
- C2CD2L p.Lys636Gln Uncertain significance Single submitter
- C2CD2L p.Lys96Arg Uncertain significance Single submitter
- C2CD2L p.Met150Val Uncertain significance Single submitter
- C2CD2L p.Met177Thr Uncertain significance Single submitter
- C2CD2L p.Met274Leu Uncertain significance Single submitter
- C2CD2L p.Phe289Leu Uncertain significance Single submitter
- C2CD2L p.Pro132Ser Uncertain significance Single submitter
- C2CD2L p.Pro251Arg Uncertain significance Single submitter
- C2CD2L p.Pro391Ser Uncertain significance Single submitter
- C2CD2L p.Pro48Ser Uncertain significance Single submitter
- C2CD2L p.Ser176Phe Uncertain significance Single submitter
- C2CD2L p.Ser578Leu Uncertain significance Single submitter
- C2CD2L p.Thr218Arg Uncertain significance Single submitter
- C2CD2L p.Thr388Ile Uncertain significance Single submitter
- C2CD2L p.Thr491Ile Uncertain significance Single submitter
- C2CD2L p.Thr529Ala Uncertain significance Single submitter
- C2CD2L p.Thr533Ile Uncertain significance Single submitter
- C2CD2L p.Val10Leu Uncertain significance Single submitter
- C2CD2L p.Val175Ile Uncertain significance Single submitter
- C2CD2L p.Val233Ala Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- C2CD2L p.Ala14Thr Uncertain significance Single submitter
- C2CD2L p.Ala512Val Uncertain significance Single submitter
- C2CD2L p.Ala550Val Uncertain significance Single submitter
- C2CD2L p.Arg153Cys Uncertain significance Single submitter
- C2CD2L p.Arg162Trp Uncertain significance Single submitter
- C2CD2L p.Arg287Gln Uncertain significance Single submitter
- C2CD2L p.Arg291Gln Uncertain significance Single submitter
- C2CD2L p.Arg347Trp Uncertain significance Single submitter
- C2CD2L p.Arg467Cys Uncertain significance Single submitter
- C2CD2L p.Arg522Trp Uncertain significance Single submitter
- C2CD2L p.Arg531His Uncertain significance Single submitter
- C2CD2L p.Arg630Cys Uncertain significance Single submitter
- C2CD2L p.Arg649His Uncertain significance Single submitter
- C2CD2L p.Arg684His Uncertain significance Single submitter
- C2CD2L p.Arg86Trp Uncertain significance Single submitter
- C2CD2L p.Asp442Asn Uncertain significance Single submitter
- C2CD2L p.Cys385Trp Uncertain significance Single submitter
- C2CD2L p.Glu197Lys Uncertain significance Single submitter
- C2CD2L p.Glu306Lys Uncertain significance Single submitter
- C2CD2L p.Glu348Gly Uncertain significance Single submitter
- C2CD2L p.Glu55Lys Uncertain significance Single submitter
- C2CD2L p.Gly299Arg Uncertain significance Single submitter
- C2CD2L p.Ile433Thr Uncertain significance Single submitter
- C2CD2L p.Pro188Thr Uncertain significance Single submitter
- C2CD2L p.Pro391Arg Uncertain significance Single submitter
- C2CD2L p.Pro519His Uncertain significance Single submitter
- C2CD2L p.Ser171Phe Uncertain significance Single submitter
- C2CD2L p.Ser575Leu Uncertain significance Single submitter
- C2CD2L p.Thr218Met Uncertain significance Single submitter
- C2CD2L p.Thr388Asn Uncertain significance Single submitter
- C2CD2L p.Thr569Ile Uncertain significance Single submitter
- C2CD2L p.Thr621Met Uncertain significance Single submitter
- C2CD2L p.Trp38Cys Uncertain significance Single submitter
- C2CD2L p.Trp38Gly Uncertain significance Single submitter
- C2CD2L p.Trp66Arg Uncertain significance Single submitter
- C2CD2L p.Tyr180His Uncertain significance Single submitter
- C2CD2L p.Val193Ala Uncertain significance Single submitter
- C2CD2L p.Val332Met Uncertain significance Single submitter
- C2CD2L p.Val523Met Uncertain significance Single submitter
All C2CD2L variants
Benign 2
- c.451-8G>A Multiple submitters
- p.Arg71= Single submitter
Likely benign 6
- p.Arg73= Single submitter
- p.Asp45Gly Single submitter
- p.Leu191= Single submitter
- p.Leu340= Single submitter
- p.Leu384Val Single submitter
- p.Thr475= Single submitter
Uncertain significance 102
- p.Ala14Thr Single submitter ⚠
- p.Ala173Thr Single submitter ⚠
- p.Ala245Ser Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala512Val Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala53Ser Single submitter ⚠
- p.Ala545Val Single submitter ⚠
- p.Ala550Val Single submitter ⚠
- p.Ala626Val Single submitter ⚠
- p.Ala669Val Single submitter ⚠
- p.Ala679Val Single submitter ⚠
- p.Ala79Ser Single submitter ⚠
- p.Ala94Gly Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg162Trp Single submitter ⚠
- p.Arg212Cys Single submitter ⚠
- p.Arg212His Single submitter ⚠
- p.Arg228Lys Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg347Gln Single submitter ⚠
- p.Arg347Trp Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg437Trp Single submitter ⚠
- p.Arg43Leu Single submitter ⚠
- p.Arg457Cys Single submitter ⚠
- p.Arg457His Single submitter ⚠
- p.Arg467Cys Single submitter ⚠
- p.Arg522Trp Single submitter ⚠
- p.Arg531His Single submitter ⚠
- p.Arg630Cys Single submitter ⚠
- p.Arg630His Single submitter ⚠
- p.Arg641Pro Single submitter ⚠
- p.Arg649His Single submitter ⚠
- p.Arg676Gly Single submitter ⚠
- p.Arg67Pro Single submitter ⚠
- p.Arg684His Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.Asn117Lys Single submitter ⚠
- p.Asn256Ser Single submitter ⚠
- p.Asp144Asn Single submitter ⚠
- p.Asp442Asn Single submitter ⚠
- p.Asp45Ala Single submitter ⚠
- p.Cys385Trp Single submitter ⚠
- p.Gln190Glu Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu306Lys Single submitter ⚠
- p.Glu348Gly Single submitter ⚠
- p.Glu484Asp Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Gly229Asp Single submitter ⚠
- p.Gly264Arg Single submitter ⚠
- p.Gly299Arg Single submitter ⚠
- p.Gly410Ser Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Gly572Ser Single submitter ⚠
- p.Ile433Thr Single submitter ⚠
- p.Leu39Arg Single submitter ⚠
- p.Leu591Arg Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Lys636Gln Single submitter ⚠
- p.Lys96Arg Single submitter ⚠
- p.Met150Val Single submitter ⚠
- p.Met177Thr Single submitter ⚠
- p.Met274Leu Single submitter ⚠
- p.Phe289Leu Single submitter ⚠
- p.Pro132Ser Single submitter ⚠
- p.Pro188Thr Single submitter ⚠
- p.Pro251Arg Single submitter ⚠
- p.Pro391Arg Single submitter ⚠
- p.Pro391Ser Single submitter ⚠
- p.Pro48Ser Single submitter ⚠
- p.Pro519His Single submitter ⚠
- p.Ser171Phe Single submitter ⚠
- p.Ser176Phe Single submitter ⚠
- p.Ser575Leu Single submitter ⚠
- p.Ser578Leu Single submitter ⚠
- p.Thr218Arg Single submitter ⚠
- p.Thr218Met Single submitter ⚠
- p.Thr388Asn Single submitter ⚠
- p.Thr388Ile Single submitter ⚠
- p.Thr491Ile Single submitter ⚠
- p.Thr529Ala Single submitter ⚠
- p.Thr533Ile Single submitter ⚠
- p.Thr569Ile Single submitter ⚠
- p.Thr621Met Single submitter ⚠
- p.Trp38Cys Single submitter ⚠
- p.Trp38Gly Single submitter ⚠
- p.Trp66Arg Single submitter ⚠
- p.Tyr180His Single submitter ⚠
- p.Val10Leu Single submitter ⚠
- p.Val175Ile Single submitter ⚠
- p.Val193Ala Single submitter ⚠
- p.Val233Ala Single submitter ⚠
- p.Val332Met Single submitter ⚠
- p.Val523Met Single submitter ⚠