CCDC7 — 61 ClinVar variants
All ClinVar germline CCDC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
6 Likely benign · 55 Uncertain significance
Full CCDC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC7 p.Ala381Val Uncertain significance Single submitter
- CCDC7 p.Arg274Gln Uncertain significance Single submitter
- CCDC7 p.Asn12Ser Uncertain significance Single submitter
- CCDC7 p.Asn192Asp Uncertain significance Single submitter
- CCDC7 p.Asp259Val Uncertain significance Single submitter
- CCDC7 p.Asp309Asn Uncertain significance Single submitter
- CCDC7 p.Asp357Ala Uncertain significance Single submitter
- CCDC7 p.Asp46Glu Uncertain significance Single submitter
- CCDC7 p.Asp81Gly Uncertain significance Single submitter
- CCDC7 p.Asp81His Uncertain significance Single submitter
- CCDC7 p.Gln305Lys Uncertain significance Single submitter
- CCDC7 p.Gln307Lys Uncertain significance Single submitter
- CCDC7 p.Glu149Asp Uncertain significance Single submitter
- CCDC7 p.Glu170Gly Uncertain significance Single submitter
- CCDC7 p.Glu290Gln Uncertain significance Single submitter
- CCDC7 p.Glu367Gln Uncertain significance Single submitter
- CCDC7 p.Glu954Lys Uncertain significance Single submitter
- CCDC7 p.Gly25Arg Uncertain significance Single submitter
- CCDC7 p.His252Asn Uncertain significance Single submitter
- CCDC7 p.His27Arg Uncertain significance Single submitter
- CCDC7 p.His90Arg Uncertain significance Single submitter
- CCDC7 p.Ile1275Leu Uncertain significance Single submitter
- CCDC7 p.Ile190Val Uncertain significance Single submitter
- CCDC7 p.Lys23Gln Uncertain significance Single submitter
- CCDC7 p.Lys258Glu Uncertain significance Single submitter
- CCDC7 p.Lys2Glu Uncertain significance Single submitter
- CCDC7 p.Lys89Glu Uncertain significance Single submitter
- CCDC7 p.Met221Thr Uncertain significance Single submitter
- CCDC7 p.Pro33Arg Uncertain significance Single submitter
- CCDC7 p.Pro79Ser Uncertain significance Single submitter
- CCDC7 p.Ser314Leu Uncertain significance Single submitter
- CCDC7 p.Ser55Ala Uncertain significance Single submitter
- CCDC7 p.Thr22Asn Uncertain significance Single submitter
- CCDC7 p.Thr263Ala Uncertain significance Single submitter
- CCDC7 p.Val17Ile Uncertain significance Single submitter
- CCDC7 p.Val260Phe Uncertain significance Single submitter
- CCDC7 p.Val799Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CCDC7 p.Arg209Cys Uncertain significance Single submitter
- CCDC7 p.Arg855Cys Uncertain significance Single submitter
- CCDC7 p.Asp1266Tyr Uncertain significance Single submitter
- CCDC7 p.Asp309Tyr Uncertain significance Single submitter
- CCDC7 p.Gln1038Lys Uncertain significance Single submitter
- CCDC7 p.Glu100Gly Uncertain significance Single submitter
- CCDC7 p.Glu766Gly Uncertain significance Single submitter
- CCDC7 p.Glu946Gln Uncertain significance Single submitter
- CCDC7 p.Ile1189Met Uncertain significance Single submitter
- CCDC7 p.Leu8Phe Uncertain significance Single submitter
- CCDC7 p.Lys1146Asn Uncertain significance Single submitter
- CCDC7 p.Met278Thr Uncertain significance Single submitter
- CCDC7 p.Ser1030Ile Uncertain significance Single submitter
- CCDC7 p.Ser137Leu Uncertain significance Single submitter
- CCDC7 p.Ser96Pro Uncertain significance Single submitter
- CCDC7 p.Tyr102Cys Uncertain significance Single submitter
- CCDC7 p.Val218Met Uncertain significance Single submitter
All CCDC7 variants
Likely benign 6
- p.Ala251Thr Single submitter
- p.Gln311Glu Single submitter
- p.Glu145Ala Single submitter
- p.Gly826Ser Single submitter
- p.Leu177Phe Single submitter
- p.Thr9Ala Single submitter
Uncertain significance 55
- c.3604+1G>C Single submitter
- p.Ala381Val Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg855Cys Single submitter ⚠
- p.Asn12Ser Single submitter ⚠
- p.Asn192Asp Single submitter ⚠
- p.Asp1266Tyr Single submitter ⚠
- p.Asp259Val Single submitter ⚠
- p.Asp309Asn Single submitter ⚠
- p.Asp309Tyr Single submitter ⚠
- p.Asp357Ala Single submitter ⚠
- p.Asp46Glu Single submitter ⚠
- p.Asp81Gly Single submitter ⚠
- p.Asp81His Single submitter ⚠
- p.Gln1038Lys Single submitter ⚠
- p.Gln305Lys Single submitter ⚠
- p.Gln307Lys Single submitter ⚠
- p.Glu100Gly Single submitter ⚠
- p.Glu149Asp Single submitter ⚠
- p.Glu170Gly Single submitter ⚠
- p.Glu290Gln Single submitter ⚠
- p.Glu367Gln Single submitter ⚠
- p.Glu766Gly Single submitter ⚠
- p.Glu946Gln Single submitter ⚠
- p.Glu954Lys Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.His252Asn Single submitter ⚠
- p.His27Arg Single submitter ⚠
- p.His90Arg Single submitter ⚠
- p.Ile1189Met Single submitter ⚠
- p.Ile1275Leu Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Lys1146Asn Single submitter ⚠
- p.Lys23Gln Single submitter ⚠
- p.Lys258Glu Single submitter ⚠
- p.Lys2Glu Single submitter ⚠
- p.Lys89Glu Single submitter ⚠
- p.Met221Thr Single submitter ⚠
- p.Met278Thr Single submitter ⚠
- p.Pro33Arg Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser1030Ile Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser314Leu Single submitter ⚠
- p.Ser55Ala Single submitter ⚠
- p.Ser96Pro Single submitter ⚠
- p.Thr22Asn Single submitter ⚠
- p.Thr263Ala Single submitter ⚠
- p.Tyr102Cys Single submitter ⚠
- p.Val17Ile Single submitter ⚠
- p.Val218Met Single submitter ⚠
- p.Val260Phe Single submitter ⚠
- p.Val799Met Single submitter ⚠