CCDC6 — 38 ClinVar variants
All ClinVar germline CCDC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
3 Benign · 35 Uncertain significance
Full CCDC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC6 p.Ala13Thr Uncertain significance Single submitter
- CCDC6 p.Arg197Gln Uncertain significance Single submitter
- CCDC6 p.Arg271Gln Uncertain significance Single submitter
- CCDC6 p.Arg298Thr Uncertain significance Single submitter
- CCDC6 p.Arg415Gln Uncertain significance Single submitter
- CCDC6 p.Asn267Ser Uncertain significance Single submitter
- CCDC6 p.Gln165Leu Uncertain significance Single submitter
- CCDC6 p.Glu299Gln Uncertain significance Single submitter
- CCDC6 p.Glu76Ala Uncertain significance Single submitter
- CCDC6 p.Gly14Trp Uncertain significance Single submitter
- CCDC6 p.Gly15Ser Uncertain significance Single submitter
- CCDC6 p.Gly32Ser Uncertain significance Single submitter
- CCDC6 p.Gly48Ser Uncertain significance Single submitter
- CCDC6 p.Ile366Leu Uncertain significance Single submitter
- CCDC6 p.Leu385Val Uncertain significance Single submitter
- CCDC6 p.Met175Arg Uncertain significance Single submitter
- CCDC6 p.Met23Arg Uncertain significance Single submitter
- CCDC6 p.Pro242Leu Uncertain significance Single submitter
- CCDC6 p.Pro463Thr Uncertain significance Single submitter
- CCDC6 p.Ser419Arg Uncertain significance Single submitter
- CCDC6 p.Thr383Ser Uncertain significance Single submitter
- CCDC6 p.Thr386Ser Uncertain significance Single submitter
- CCDC6 p.Val239Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CCDC6 p.Cys319Ser Uncertain significance Single submitter
- CCDC6 p.Glu89Ala Uncertain significance Single submitter
- CCDC6 p.Gly404Glu Uncertain significance Single submitter
- CCDC6 p.Gly40Ser Uncertain significance Single submitter
- CCDC6 p.Leu281Phe Uncertain significance Single submitter
- CCDC6 p.Lys274Asn Uncertain significance Single submitter
- CCDC6 p.Pro442Ala Uncertain significance Single submitter
- CCDC6 p.Pro446Leu Benign Single submitter
- CCDC6 p.Pro446Ser Uncertain significance Single submitter
- CCDC6 p.Ser19Asn Uncertain significance Single submitter
- CCDC6 p.Ser98Thr Uncertain significance Single submitter
- CCDC6 p.Val239Ala Uncertain significance Single submitter
All CCDC6 variants
Benign 3
- p.Leu206= Multiple submitters
- p.His154= Single submitter
- p.Pro446Leu Single submitter ⚠
Uncertain significance 35
- p.Ala13Thr Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg298Thr Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Asn267Ser Single submitter ⚠
- p.Cys319Ser Single submitter ⚠
- p.Gln165Leu Single submitter ⚠
- p.Glu139del Single submitter neurodevelopmental disorder
- p.Glu299Gln Single submitter ⚠
- p.Glu76Ala Single submitter ⚠
- p.Glu89Ala Single submitter ⚠
- p.Gly14Trp Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly32Ser Single submitter ⚠
- p.Gly404Glu Single submitter ⚠
- p.Gly40Ser Single submitter ⚠
- p.Gly48Ser Single submitter ⚠
- p.Ile366Leu Single submitter ⚠
- p.Leu281Phe Single submitter ⚠
- p.Leu385Val Single submitter ⚠
- p.Lys274Asn Single submitter ⚠
- p.Met175Arg Single submitter ⚠
- p.Met23Arg Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro442Ala Single submitter ⚠
- p.Pro446Ser Single submitter ⚠
- p.Pro463Thr Single submitter ⚠
- p.Ser19Asn Single submitter ⚠
- p.Ser419Arg Single submitter ⚠
- p.Ser98Thr Single submitter ⚠
- p.Thr383Ser Single submitter ⚠
- p.Thr386Ser Single submitter ⚠
- p.Val239Ala Single submitter ⚠
- p.Val239Ile Single submitter ⚠