CCDC51 — 68 ClinVar variants
All ClinVar germline CCDC51 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Benign · 2 Likely benign · 63 Uncertain significance
Full CCDC51 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC51 p.Ala112Ser Uncertain significance Single submitter
- CCDC51 p.Ala252Thr Uncertain significance Single submitter
- CCDC51 p.Ala252Val Uncertain significance Single submitter
- CCDC51 p.Ala286Ser Uncertain significance Single submitter
- CCDC51 p.Ala335Thr Uncertain significance Single submitter
- CCDC51 p.Ala344Gly Uncertain significance Single submitter
- CCDC51 p.Ala356Asp Uncertain significance Single submitter
- CCDC51 p.Ala370Val Uncertain significance Single submitter
- CCDC51 p.Ala75Val Uncertain significance Single submitter
- CCDC51 p.Arg120Gln Uncertain significance Single submitter
- CCDC51 p.Arg136Cys Uncertain significance Single submitter
- CCDC51 p.Arg139His Uncertain significance Single submitter
- CCDC51 p.Arg187Trp Uncertain significance Single submitter
- CCDC51 p.Arg194Cys Uncertain significance Single submitter
- CCDC51 p.Arg224His Uncertain significance Single submitter
- CCDC51 p.Arg226Pro Uncertain significance Single submitter
- CCDC51 p.Arg22Gln Uncertain significance Single submitter
- CCDC51 p.Arg22Trp Uncertain significance Single submitter
- CCDC51 p.Arg257Cys Uncertain significance Single submitter
- CCDC51 p.Arg292Gly Uncertain significance Single submitter
- CCDC51 p.Arg311Ser Uncertain significance Single submitter
- CCDC51 p.Arg48Gly Uncertain significance Single submitter
- CCDC51 p.Arg59His Uncertain significance Single submitter
- CCDC51 p.Arg74Gln Uncertain significance Single submitter
- CCDC51 p.Arg96Gln Uncertain significance Single submitter
- CCDC51 p.Asn202Ser Uncertain significance Single submitter
- CCDC51 p.Asn264Ser Uncertain significance Single submitter
- CCDC51 p.Glu193Lys Uncertain significance Single submitter
- CCDC51 p.Glu322Lys Uncertain significance Single submitter
- CCDC51 p.Glu351Asp Uncertain significance Single submitter
- CCDC51 p.Glu94Asp Uncertain significance Single submitter
- CCDC51 p.Glu94Gln Uncertain significance Single submitter
- CCDC51 p.Gly114Arg Uncertain significance Single submitter
- CCDC51 p.Gly277Glu Uncertain significance Single submitter
-
CCDC51 p.Gly336Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CCDC51 p.Gly91Glu Uncertain significance Single submitter
- CCDC51 p.Leu150Gln Uncertain significance Single submitter
- CCDC51 p.Leu150Met Uncertain significance Single submitter
- CCDC51 p.Leu299Phe Uncertain significance Single submitter
- CCDC51 p.Leu30Phe Uncertain significance Single submitter
- CCDC51 p.Leu324Pro Uncertain significance Single submitter
- CCDC51 p.Lys107Asn Uncertain significance Single submitter
- CCDC51 p.Lys131Arg Uncertain significance Single submitter
- CCDC51 p.Pro290Leu Uncertain significance Single submitter
- CCDC51 p.Pro61Leu Uncertain significance Single submitter
- CCDC51 p.Pro61Ser Uncertain significance Single submitter
- CCDC51 p.Ser141Phe Uncertain significance Single submitter
- CCDC51 p.Ser204Phe Uncertain significance Single submitter
- CCDC51 p.Ser288Arg Uncertain significance Single submitter
- CCDC51 p.Ser359Arg Uncertain significance Single submitter
- CCDC51 p.Thr33Ser Uncertain significance Single submitter
- CCDC51 p.Thr78Ala Uncertain significance Single submitter
- CCDC51 p.Thr78Arg Uncertain significance Single submitter
- CCDC51 p.Tyr221Ser Uncertain significance Single submitter
- CCDC51 p.Val392Gly Uncertain significance Single submitter
- CCDC51 p.Val395Met Uncertain significance Single submitter
-
CCDC51 p.Asn93Ser
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 5
The independent predictors disagree with each other — read with care.
All CCDC51 variants
Benign 3
- p.Arg165Cys Multiple submitters ⚠
- p.Gln323Arg Multiple submitters
- p.Pro44= Multiple submitters
Likely benign 2
- p.Met367Val Single submitter
- p.Val19Ile Single submitter
Uncertain significance 63
- p.Ala105Thr Single submitter
- p.Ala112Ser Single submitter ⚠
- p.Ala171Val Single submitter ⚠
- p.Ala252Thr Single submitter ⚠
- p.Ala252Val Single submitter ⚠
- p.Ala286Ser Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala344Gly Single submitter ⚠
- p.Ala356Asp Single submitter ⚠
- p.Ala370Val Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Arg117Gly Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg187Trp Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg224His Single submitter ⚠
- p.Arg226Pro Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg22Trp Single submitter ⚠
- p.Arg257Cys Single submitter ⚠
- p.Arg292Gly Single submitter ⚠
- p.Arg311Ser Single submitter ⚠
- p.Arg48Gly Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg74Gln Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Asn202Ser Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Glu177Lys Single submitter
- p.Glu193Lys Single submitter ⚠
- p.Glu322Lys Single submitter ⚠
- p.Glu351Asp Single submitter ⚠
- p.Glu94Asp Single submitter ⚠
- p.Glu94Gln Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly277Glu Single submitter ⚠
- p.Gly336Glu Single submitter inherited retinal dystrophy ⚠
- p.Gly91Glu Single submitter ⚠
- p.Leu150Gln Single submitter ⚠
- p.Leu150Met Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Leu324Pro Single submitter ⚠
- p.Lys107Asn Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Pro290Leu Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Pro61Ser Single submitter ⚠
- p.Ser141Phe Single submitter ⚠
- p.Ser204Phe Single submitter ⚠
- p.Ser288Arg Single submitter ⚠
- p.Ser359Arg Single submitter ⚠
- p.Thr33Ser Single submitter ⚠
- p.Thr78Ala Single submitter ⚠
- p.Thr78Arg Single submitter ⚠
- p.Tyr221Ser Single submitter ⚠
- p.Val392Gly Single submitter ⚠
- p.Val395Met Single submitter ⚠
- p.Asn93Ser No assertion criteria inherited retinal dystrophy ⚠