CCDC120 — 108 ClinVar variants

All ClinVar germline CCDC120 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

1 Conflicting · 7 Likely benign · 100 Uncertain significance

Full CCDC120 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 98

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CCDC120 p.Pro463Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 77

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 20

The independent predictors disagree with each other — read with care.

All CCDC120 variants

Conflicting classifications of pathogenicity 1

p.Pro463Thr Single submitter ⚠

Likely benign 7

c.963-2A>G Single submitter
p.Ala237Thr Single submitter
p.Asp201= Single submitter
p.Met234Thr Single submitter
p.Pro501Leu Single submitter
p.Val387Ala Single submitter
p.Val617= Single submitter

Uncertain significance 100

c.63+12A>G Single submitter
p.Ala126Thr Single submitter ⚠
p.Ala161Thr Single submitter ⚠
p.Ala164Gly Single submitter ⚠
p.Ala348Thr Single submitter ⚠
p.Ala376Val Single submitter ⚠
p.Ala405Thr Single submitter ⚠
p.Ala441Pro Single submitter ⚠
p.Ala447Val Single submitter ⚠
p.Ala464Gly Single submitter ⚠
p.Ala528Ser Single submitter ⚠
p.Ala53Val Single submitter ⚠
p.Ala643Val Single submitter ⚠
p.Arg118Cys Single submitter ⚠
p.Arg119Trp Single submitter ⚠
p.Arg120Trp Single submitter ⚠
p.Arg125His Single submitter ⚠
p.Arg152Cys Single submitter ⚠
p.Arg166His Single submitter ⚠
p.Arg180His Single submitter ⚠
p.Arg181Gln Single submitter ⚠
p.Arg181Trp Single submitter ⚠
p.Arg190Thr Single submitter ⚠
p.Arg203Trp Single submitter ⚠
p.Arg274Cys Single submitter ⚠
p.Arg274His Single submitter ⚠
p.Arg285Trp Single submitter ⚠
p.Arg336Gln Single submitter ⚠
p.Arg361Cys Single submitter ⚠
p.Arg389His Single submitter ⚠
p.Arg391Cys Single submitter ⚠
p.Arg403Gln Single submitter ⚠
p.Arg403Trp Single submitter ⚠
p.Arg435Cys Single submitter ⚠
p.Arg435His Single submitter ⚠
p.Arg445His Single submitter ⚠
p.Arg454Gln Single submitter ⚠
p.Arg466Gln Single submitter ⚠
p.Arg486Gln Single submitter ⚠
p.Arg486Trp Single submitter ⚠
p.Arg490His Single submitter ⚠
p.Arg537His Single submitter ⚠
p.Arg544His Single submitter ⚠
p.Arg583Gly Single submitter ⚠
p.Arg595Gln Single submitter ⚠
p.Arg610His Single submitter ⚠
p.Arg611Trp Single submitter ⚠
p.Arg628Cys Single submitter ⚠
p.Arg68Trp Single submitter ⚠
p.Asp381Asn Single submitter ⚠
p.Asp596Asn Single submitter ⚠
p.Cys426Ser Single submitter ⚠
p.Gln177Arg Single submitter ⚠
p.Gln437Glu Single submitter ⚠
p.Glu430Lys Single submitter ⚠
p.Glu559Lys Single submitter ⚠
p.Gly289Trp Single submitter ⚠
p.Gly365Asp Single submitter ⚠
p.Gly365Ser Single submitter ⚠
p.Gly40Ser Single submitter
p.Gly487Ser Single submitter ⚠
p.Gly487Val Single submitter ⚠
p.Gly638Arg Single submitter ⚠
p.Gly638Glu Single submitter ⚠
p.His193Tyr Single submitter ⚠
p.His260Tyr Single submitter ⚠
p.His586Tyr Single submitter ⚠
p.His621Pro Single submitter ⚠
p.Ile599Val Single submitter ⚠
p.Leu211Phe Single submitter ⚠
p.Leu42Arg Single submitter ⚠
p.Leu479Phe Single submitter ⚠
p.Leu93Phe Single submitter ⚠
p.Lys310Asn Single submitter ⚠
p.Lys587Arg Single submitter ⚠
p.Pro130Ala Single submitter ⚠
p.Pro130Leu Single submitter ⚠
p.Pro171Leu Single submitter ⚠
p.Pro212Leu Single submitter ⚠
p.Pro278Leu Single submitter ⚠
p.Pro342Leu Single submitter ⚠
p.Pro342Ser Single submitter ⚠
p.Pro412Leu Single submitter ⚠
p.Pro413Ser Single submitter ⚠
p.Pro424Gln Single submitter ⚠
p.Pro453Leu Single submitter ⚠
p.Pro554Ser Single submitter ⚠
p.Pro561Ser Single submitter ⚠
p.Pro565Ala Single submitter ⚠
p.Pro619Leu Single submitter ⚠
p.Pro622Leu Single submitter ⚠
p.Ser311Asn Single submitter ⚠
p.Ser579Leu Single submitter ⚠
p.Thr221Met Single submitter ⚠
p.Thr439Ile Single submitter ⚠
p.Thr652Met Single submitter
p.Tyr527His Single submitter ⚠
p.Tyr630Asn Single submitter ⚠
p.Tyr630His Single submitter ⚠
p.Val156Met Single submitter ⚠