CCDC66 — 155 ClinVar variants

All ClinVar germline CCDC66 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

1 Benign · 12 Likely benign · 142 Uncertain significance

Full CCDC66 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 114

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

Predictors split 28

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

All CCDC66 variants

Benign 1

c.11+7_11+16dup Single submitter

Likely benign 12

p.Arg461Ter Single submitter
p.Arg676Trp Single submitter ⚠
p.Arg884Gln Single submitter
p.Asn675Ser Single submitter
p.Gly86Arg Single submitter
p.His27Arg Single submitter
p.Ile301Val Single submitter
p.Ile619Thr Single submitter
p.Leu772Phe Single submitter
p.Ser943fs Single submitter
p.Thr249= Single submitter
p.Val125Ile Single submitter

Uncertain significance 142

p.Ala114Val Single submitter ⚠
p.Ala142Gly Single submitter ⚠
p.Ala323Thr Single submitter ⚠
p.Ala668Pro Single submitter ⚠
p.Ala937Val Single submitter ⚠
p.Arg122Ser Single submitter ⚠
p.Arg346fs Single submitter
p.Arg443Cys Single submitter ⚠
p.Arg443His Single submitter ⚠
p.Arg479Cys Single submitter ⚠
p.Arg479His Single submitter ⚠
p.Arg504Ser Single submitter ⚠
p.Arg545Lys Single submitter ⚠
p.Arg553Gln Single submitter ⚠
p.Arg676Gln Single submitter ⚠
p.Arg686Ile Single submitter ⚠
p.Arg686Lys Single submitter ⚠
p.Arg733Lys Single submitter ⚠
p.Arg805Gly Single submitter ⚠
p.Arg851Gln Single submitter ⚠
p.Arg884Leu Single submitter ⚠
p.Arg884Pro Single submitter ⚠
p.Asn168Ser Single submitter ⚠
p.Asn189Ser Single submitter ⚠
p.Asn193Lys Single submitter ⚠
p.Asn239Ser Single submitter ⚠
p.Asn2His Single submitter ⚠
p.Asn37Ser Single submitter ⚠
p.Asn624Ser Single submitter ⚠
p.Asn658Ser Single submitter ⚠
p.Asn706Asp Single submitter ⚠
p.Asn853Lys Single submitter ⚠
p.Asn939Thr Single submitter ⚠
p.Asp103Gly Single submitter ⚠
p.Asp15Val Single submitter ⚠
p.Asp343Gly Single submitter ⚠
p.Asp397His Single submitter ⚠
p.Asp430Gly Single submitter ⚠
p.Asp591Glu Single submitter ⚠
p.Asp5Tyr Single submitter ⚠
p.Asp702His Single submitter ⚠
p.Cys61Tyr Single submitter ⚠
p.Cys629Arg Single submitter ⚠
p.Gln133Lys Single submitter ⚠
p.Gln158Glu Single submitter ⚠
p.Gln310Arg Single submitter ⚠
p.Gln399His Single submitter ⚠
p.Gln415Arg Single submitter ⚠
p.Gln494Glu Single submitter ⚠
p.Gln540Pro Single submitter ⚠
p.Gln544Glu Single submitter ⚠
p.Gln58Arg Single submitter ⚠
p.Gln726Arg Single submitter ⚠
p.Gln766Arg Single submitter ⚠
p.Gln808Leu Single submitter ⚠
p.Gln833His Single submitter ⚠
p.Gln875Arg Single submitter ⚠
p.Gln875Pro Single submitter ⚠
p.Glu238Gly Single submitter ⚠
p.Glu254Ala Single submitter ⚠
p.Glu286Gly Single submitter ⚠
p.Glu477Gly Single submitter ⚠
p.Glu505Asp Single submitter ⚠
p.Glu592Asp Single submitter ⚠
p.Glu673Ala Single submitter ⚠
p.Glu825Asp Single submitter ⚠
p.Glu938Gly Single submitter ⚠
p.Glu942Lys Single submitter ⚠
p.Gly131Asp Single submitter ⚠
p.Gly630Arg Single submitter ⚠
p.Gly86Val Single submitter ⚠
p.His27Tyr Single submitter ⚠
p.Ile191Thr Single submitter ⚠
p.Ile200Val Single submitter ⚠
p.Ile340Val Single submitter ⚠
p.Ile348Thr Single submitter ⚠
p.Ile353Thr Single submitter ⚠
p.Ile471Val Single submitter ⚠
p.Ile53Phe Single submitter ⚠
p.Ile53Val Single submitter ⚠
p.Ile650Thr Single submitter ⚠
p.Ile687Arg Single submitter ⚠
p.Ile760Phe Single submitter ⚠
p.Leu13Val Single submitter ⚠
p.Leu54Val Single submitter ⚠
p.Leu897Val Single submitter ⚠
p.Leu912Arg Single submitter ⚠
p.Lys120Arg Single submitter ⚠
p.Lys134Asn Single submitter ⚠
p.Lys137Glu Single submitter ⚠
p.Lys196Glu Single submitter ⚠
p.Lys218Glu Single submitter ⚠
p.Lys463Arg Single submitter ⚠
p.Lys478Arg Single submitter ⚠
p.Lys558Arg Single submitter ⚠
p.Lys607Asn Single submitter ⚠
p.Lys607Gln Single submitter ⚠
p.Lys607Met Single submitter ⚠
p.Lys607Thr Single submitter ⚠
p.Lys66Glu Single submitter ⚠
p.Lys707Asn Single submitter ⚠
p.Met145Val Single submitter ⚠
p.Met901Thr Single submitter ⚠
p.Phe887Leu Single submitter ⚠
p.Phe89Leu Single submitter ⚠
p.Pro24Ala Single submitter ⚠
p.Pro291Leu Single submitter ⚠
p.Pro451Ala Single submitter ⚠
p.Pro643Ser Single submitter ⚠
p.Pro701Leu Single submitter ⚠
p.Pro848Leu Single submitter ⚠
p.Pro899Leu Single submitter ⚠
p.Ser147Asn Single submitter ⚠
p.Ser211Leu Single submitter ⚠
p.Ser212Cys Single submitter ⚠
p.Ser311Pro Single submitter ⚠
p.Ser32Tyr Single submitter ⚠
p.Ser646Leu Single submitter ⚠
p.Ser764Cys Single submitter ⚠
p.Ser837Pro Single submitter ⚠
p.Ser91Tyr Single submitter ⚠
p.Ser932Gly Single submitter ⚠
p.Thr127Ile Single submitter ⚠
p.Thr153Ile Single submitter ⚠
p.Thr385Ala Single submitter ⚠
p.Thr446Ser Single submitter ⚠
p.Thr535Ala Single submitter ⚠
p.Thr562Ser Single submitter ⚠
p.Thr691Ile Single submitter ⚠
p.Thr691Lys Single submitter ⚠
p.Thr768Met Single submitter ⚠
p.Thr852Ile Single submitter ⚠
p.Thr869Ser Single submitter ⚠
p.Thr92Pro Single submitter ⚠
p.Trp241Arg Single submitter ⚠
p.Tyr25Cys Single submitter ⚠
p.Tyr822Cys Single submitter ⚠
p.Tyr856Cys Single submitter ⚠
p.Val220Leu Single submitter ⚠
p.Val394Ile Single submitter ⚠
p.Val475Ile Single submitter ⚠
p.Val799Ile Single submitter ⚠