CCDC3 — 63 ClinVar variants
All ClinVar germline CCDC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
1 Benign · 3 Likely benign · 59 Uncertain significance
Full CCDC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC3 p.Ala253Thr Uncertain significance Single submitter
- CCDC3 p.Asn258His Uncertain significance Single submitter
- CCDC3 p.Asp117Asn Uncertain significance Single submitter
- CCDC3 p.Asp117Glu Uncertain significance Single submitter
- CCDC3 p.Cys22Tyr Uncertain significance Single submitter
- CCDC3 p.Cys83Arg Uncertain significance Single submitter
- CCDC3 p.Gln204Lys Uncertain significance Single submitter
- CCDC3 p.Gly103Cys Uncertain significance Single submitter
- CCDC3 p.Gly14Cys Uncertain significance Single submitter
- CCDC3 p.Gly235Asp Uncertain significance Single submitter
- CCDC3 p.Ile178Met Uncertain significance Single submitter
- CCDC3 p.Ile257Met Uncertain significance Single submitter
- CCDC3 p.Ile257Phe Uncertain significance Single submitter
- CCDC3 p.Leu101Ile Uncertain significance Single submitter
- CCDC3 p.Lys223Glu Uncertain significance Single submitter
- CCDC3 p.Met126Leu Uncertain significance Single submitter
- CCDC3 p.Pro15Ala Uncertain significance Single submitter
- CCDC3 p.Pro25Leu Uncertain significance Single submitter
- CCDC3 p.Pro266Arg Uncertain significance Single submitter
- CCDC3 p.Pro56Ser Uncertain significance Single submitter
- CCDC3 p.Ser108Leu Uncertain significance Single submitter
- CCDC3 p.Ser111Cys Uncertain significance Single submitter
- CCDC3 p.Ser156Cys Uncertain significance Single submitter
- CCDC3 p.Tyr267Ser Uncertain significance Single submitter
- CCDC3 p.Val114Gly Uncertain significance Single submitter
- CCDC3 p.Val115Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- CCDC3 p.Ala19Val Uncertain significance Single submitter
- CCDC3 p.Ala21Ser Uncertain significance Single submitter
- CCDC3 p.Ala21Thr Uncertain significance Single submitter
- CCDC3 p.Ala250Val Uncertain significance Single submitter
- CCDC3 p.Arg20Cys Uncertain significance Single submitter
- CCDC3 p.Arg213Cys Uncertain significance Single submitter
- CCDC3 p.Arg215Trp Uncertain significance Single submitter
- CCDC3 p.Arg218Pro Uncertain significance Single submitter
- CCDC3 p.Arg218Trp Uncertain significance Single submitter
- CCDC3 p.Arg226Ser Uncertain significance Single submitter
- CCDC3 p.Arg229Trp Uncertain significance Single submitter
- CCDC3 p.Arg236Cys Uncertain significance Single submitter
- CCDC3 p.Arg236Leu Uncertain significance Single submitter
- CCDC3 p.Arg29Lys Uncertain significance Single submitter
- CCDC3 p.Asn138Asp Uncertain significance Single submitter
- CCDC3 p.Asn150Thr Uncertain significance Single submitter
- CCDC3 p.Gln230His Uncertain significance Single submitter
- CCDC3 p.Glu33Ala Uncertain significance Single submitter
- CCDC3 p.Glu78Asp Uncertain significance Single submitter
- CCDC3 p.Gly14Asp Uncertain significance Single submitter
- CCDC3 p.Gly88Ser Uncertain significance Single submitter
- CCDC3 p.Leu51Pro Uncertain significance Single submitter
- CCDC3 p.Leu7Ile Uncertain significance Single submitter
- CCDC3 p.Lys223Met Uncertain significance Single submitter
- CCDC3 p.Lys225Glu Uncertain significance Single submitter
- CCDC3 p.Met185Thr Uncertain significance Single submitter
- CCDC3 p.Phe158Ser Uncertain significance Single submitter
- CCDC3 p.Phe172Leu Uncertain significance Single submitter
- CCDC3 p.Pro15Thr Uncertain significance Single submitter
- CCDC3 p.Pro53Leu Uncertain significance Single submitter
- CCDC3 p.Ser164Leu Uncertain significance Single submitter
- CCDC3 p.Ser246Ile Uncertain significance Single submitter
- CCDC3 p.Ser76Leu Uncertain significance Single submitter
All CCDC3 variants
Benign 1
- p.Tyr267fs Single submitter
Likely benign 3
- p.Ala170Val Single submitter
- p.Ala241Val Single submitter
- p.Gly261Glu Single submitter
Uncertain significance 59
- p.Ala19Val Single submitter ⚠
- p.Ala21Ser Single submitter ⚠
- p.Ala21Thr Single submitter ⚠
- p.Ala250Val Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Arg20Cys Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg218Pro Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg226Ser Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg236Cys Single submitter ⚠
- p.Arg236Leu Single submitter ⚠
- p.Arg29Lys Single submitter ⚠
- p.Asn138Asp Single submitter ⚠
- p.Asn150Thr Single submitter ⚠
- p.Asn258His Single submitter ⚠
- p.Asp117Asn Single submitter ⚠
- p.Asp117Glu Single submitter ⚠
- p.Cys22Tyr Single submitter ⚠
- p.Cys83Arg Single submitter ⚠
- p.Gln204Lys Single submitter ⚠
- p.Gln230His Single submitter ⚠
- p.Glu33Ala Single submitter ⚠
- p.Glu78Asp Single submitter ⚠
- p.Gly103Cys Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly14Cys Single submitter ⚠
- p.Gly235Asp Single submitter ⚠
- p.Gly88Ser Single submitter ⚠
- p.Ile178Met Single submitter ⚠
- p.Ile257Met Single submitter ⚠
- p.Ile257Phe Single submitter ⚠
- p.Leu101Ile Single submitter ⚠
- p.Leu51Pro Single submitter ⚠
- p.Leu7Ile Single submitter ⚠
- p.Lys223Glu Single submitter ⚠
- p.Lys223Met Single submitter ⚠
- p.Lys225Glu Single submitter ⚠
- p.Met126Leu Single submitter ⚠
- p.Met185Thr Single submitter ⚠
- p.Phe158Ser Single submitter ⚠
- p.Phe172Leu Single submitter ⚠
- p.Pro15Ala Single submitter ⚠
- p.Pro15Thr Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro266Arg Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Ser108Leu Single submitter ⚠
- p.Ser111Cys Single submitter ⚠
- p.Ser156Cys Single submitter ⚠
- p.Ser164Leu Single submitter ⚠
- p.Ser246Ile Single submitter ⚠
- p.Ser76Leu Single submitter ⚠
- p.Tyr267Ser Single submitter ⚠
- p.Val114Gly Single submitter ⚠
- p.Val115Ile Single submitter ⚠