CCDC54 — 50 ClinVar variants
All ClinVar germline CCDC54 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Likely benign · 49 Uncertain significance
Full CCDC54 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC54 p.Ala184Pro Uncertain significance Single submitter
- CCDC54 p.Ala235Thr Uncertain significance Single submitter
- CCDC54 p.Ala76Ser Uncertain significance Single submitter
- CCDC54 p.Arg162Met Uncertain significance Single submitter
- CCDC54 p.Arg327Pro Uncertain significance Single submitter
- CCDC54 p.Cys120Arg Uncertain significance Single submitter
- CCDC54 p.Cys149Phe Uncertain significance Single submitter
- CCDC54 p.Cys294Tyr Uncertain significance Single submitter
- CCDC54 p.Gln95Arg Uncertain significance Single submitter
- CCDC54 p.Glu156Gln Uncertain significance Single submitter
- CCDC54 p.Glu270Asp Uncertain significance Single submitter
- CCDC54 p.Gly316Ser Uncertain significance Single submitter
- CCDC54 p.His255Leu Uncertain significance Single submitter
- CCDC54 p.His39Arg Uncertain significance Single submitter
- CCDC54 p.His89Gln Uncertain significance Single submitter
- CCDC54 p.His89Tyr Uncertain significance Single submitter
- CCDC54 p.Ile300Phe Uncertain significance Single submitter
- CCDC54 p.Ile306Phe Uncertain significance Single submitter
- CCDC54 p.Ile318Ser Uncertain significance Single submitter
- CCDC54 p.Leu158Gln Uncertain significance Single submitter
- CCDC54 p.Leu170Phe Uncertain significance Single submitter
- CCDC54 p.Leu179Pro Uncertain significance Single submitter
- CCDC54 p.Lys138Arg Uncertain significance Single submitter
- CCDC54 p.Lys29Asn Uncertain significance Single submitter
- CCDC54 p.Met112Leu Uncertain significance Single submitter
- CCDC54 p.Met16Val Uncertain significance Single submitter
- CCDC54 p.Met188Val Uncertain significance Single submitter
- CCDC54 p.Met90Arg Uncertain significance Single submitter
- CCDC54 p.Met90Thr Uncertain significance Single submitter
- CCDC54 p.Phe253Ser Uncertain significance Single submitter
- CCDC54 p.Phe317Cys Uncertain significance Single submitter
- CCDC54 p.Pro176Ser Uncertain significance Single submitter
- CCDC54 p.Pro215Ser Uncertain significance Single submitter
- CCDC54 p.Ser231Arg Uncertain significance Single submitter
- CCDC54 p.Thr122Met Uncertain significance Single submitter
- CCDC54 p.Thr151Met Uncertain significance Single submitter
- CCDC54 p.Thr212Ile Uncertain significance Single submitter
- CCDC54 p.Tyr101Cys Uncertain significance Single submitter
- CCDC54 p.Val114Ile Uncertain significance Single submitter
- CCDC54 p.Val288Asp Uncertain significance Single submitter
- CCDC54 p.Val325Ile Uncertain significance Single submitter
- CCDC54 p.Val9Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CCDC54 p.Arg223Cys Uncertain significance Single submitter
- CCDC54 p.Arg38Trp Uncertain significance Single submitter
- CCDC54 p.Asn20Asp Uncertain significance Single submitter
- CCDC54 p.Asp132Ala Uncertain significance Single submitter
- CCDC54 p.Leu80Phe Uncertain significance Single submitter
- CCDC54 p.Trp248Arg Uncertain significance Single submitter
- CCDC54 p.Tyr32Cys Uncertain significance Single submitter
All CCDC54 variants
Likely benign 1
- p.Pro67Thr Single submitter
Uncertain significance 49
- p.Ala184Pro Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala76Ser Single submitter ⚠
- p.Arg162Met Single submitter ⚠
- p.Arg223Cys Single submitter ⚠
- p.Arg327Pro Single submitter ⚠
- p.Arg38Trp Single submitter ⚠
- p.Asn20Asp Single submitter ⚠
- p.Asp132Ala Single submitter ⚠
- p.Cys120Arg Single submitter ⚠
- p.Cys149Phe Single submitter ⚠
- p.Cys294Tyr Single submitter ⚠
- p.Gln95Arg Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Glu270Asp Single submitter ⚠
- p.Gly316Ser Single submitter ⚠
- p.His255Leu Single submitter ⚠
- p.His39Arg Single submitter ⚠
- p.His89Gln Single submitter ⚠
- p.His89Tyr Single submitter ⚠
- p.Ile300Phe Single submitter ⚠
- p.Ile306Phe Single submitter ⚠
- p.Ile318Ser Single submitter ⚠
- p.Leu158Gln Single submitter ⚠
- p.Leu170Phe Single submitter ⚠
- p.Leu179Pro Single submitter ⚠
- p.Leu80Phe Single submitter ⚠
- p.Lys138Arg Single submitter ⚠
- p.Lys29Asn Single submitter ⚠
- p.Met112Leu Single submitter ⚠
- p.Met16Val Single submitter ⚠
- p.Met188Val Single submitter ⚠
- p.Met90Arg Single submitter ⚠
- p.Met90Thr Single submitter ⚠
- p.Phe253Ser Single submitter ⚠
- p.Phe317Cys Single submitter ⚠
- p.Pro176Ser Single submitter ⚠
- p.Pro215Ser Single submitter ⚠
- p.Ser231Arg Single submitter ⚠
- p.Thr122Met Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr212Ile Single submitter ⚠
- p.Trp248Arg Single submitter ⚠
- p.Tyr101Cys Single submitter ⚠
- p.Tyr32Cys Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val288Asp Single submitter ⚠
- p.Val325Ile Single submitter ⚠
- p.Val9Leu Single submitter ⚠