CCDC160 — 34 ClinVar variants
All ClinVar germline CCDC160 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 4 Likely benign · 29 Uncertain significance
Full CCDC160 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC160 p.Ala214Gly Uncertain significance Single submitter
- CCDC160 p.Asn151Ser Uncertain significance Single submitter
- CCDC160 p.Asn94Asp Uncertain significance Single submitter
- CCDC160 p.Asp116Gly Uncertain significance Single submitter
- CCDC160 p.Glu108Gln Uncertain significance Single submitter
- CCDC160 p.Glu169Lys Uncertain significance Single submitter
- CCDC160 p.Glu202Lys Uncertain significance Single submitter
- CCDC160 p.Glu58Gln Uncertain significance Single submitter
- CCDC160 p.His232Gln Uncertain significance Single submitter
- CCDC160 p.His7Arg Uncertain significance Single submitter
-
CCDC160 p.His7Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCDC160 p.Ile164Val Uncertain significance Single submitter
- CCDC160 p.Ile316Met Uncertain significance Single submitter
- CCDC160 p.Ile47Val Uncertain significance Single submitter
- CCDC160 p.Leu236Arg Uncertain significance Single submitter
- CCDC160 p.Leu23Val Uncertain significance Single submitter
- CCDC160 p.Leu258Pro Uncertain significance Single submitter
- CCDC160 p.Leu50Phe Uncertain significance Single submitter
- CCDC160 p.Lys135Asn Uncertain significance Single submitter
- CCDC160 p.Met12Val Uncertain significance Single submitter
- CCDC160 p.Met141Ile Uncertain significance Single submitter
- CCDC160 p.Met159Val Uncertain significance Single submitter
- CCDC160 p.Pro186Ser Uncertain significance Single submitter
- CCDC160 p.Ser101Tyr Uncertain significance Single submitter
- CCDC160 p.Ser197Leu Uncertain significance Single submitter
- CCDC160 p.Ser279Asn Uncertain significance Single submitter
- CCDC160 p.Thr122Ile Uncertain significance Single submitter
- CCDC160 p.Thr194Met Uncertain significance Single submitter
All CCDC160 variants
Benign 1
- p.Leu285fs Single submitter
Likely benign 4
- p.Leu154= Single submitter
- p.Thr36Met Single submitter
- p.Tyr66= Single submitter
- p.Val280Ala Single submitter
Uncertain significance 29
- p.Ala214Gly Single submitter ⚠
- p.Asn151Ser Single submitter ⚠
- p.Asn94Asp Single submitter ⚠
- p.Asp116Gly Single submitter ⚠
- p.Glu108Gln Single submitter ⚠
- p.Glu169Lys Single submitter ⚠
- p.Glu202Lys Single submitter ⚠
- p.Glu58Gln Single submitter ⚠
- p.His232Gln Single submitter ⚠
- p.His7Arg Single submitter ⚠
- p.His7Leu Single submitter Inborn genetic diseases ⚠
- p.Ile164Val Single submitter ⚠
- p.Ile316Met Single submitter ⚠
- p.Ile47Val Single submitter ⚠
- p.Leu236Arg Single submitter ⚠
- p.Leu23Val Single submitter ⚠
- p.Leu258Pro Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Lys135Asn Single submitter ⚠
- p.Met12Val Single submitter ⚠
- p.Met141Ile Single submitter ⚠
- p.Met159Val Single submitter ⚠
- p.Pro186Ser Single submitter ⚠
- p.Ser101Tyr Single submitter ⚠
- p.Ser197Leu Single submitter ⚠
- p.Ser279Asn Single submitter ⚠
- p.Ser315del Single submitter
- p.Thr122Ile Single submitter ⚠
- p.Thr194Met Single submitter ⚠