CCDC33 — 146 ClinVar variants

All ClinVar germline CCDC33 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

17 Likely benign · 129 Uncertain significance

Full CCDC33 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CCDC33 variants

Likely benign 17

p.Pro610Leu Multiple submitters
p.Ala378Val Single submitter
p.Ala453Thr Single submitter
p.Gly27Ser Single submitter
p.His428Arg Single submitter
p.Ile710Thr Single submitter
p.Lys33Asn Single submitter
p.Pro236Ser Single submitter
p.Pro579Leu Single submitter
p.Thr295Ala Single submitter
p.Thr590Met Single submitter
p.Tyr160= Single submitter
p.Tyr527His Single submitter
p.Val246Ile Single submitter
p.Ala18Thr No assertion criteria CCDC33-related disorder
p.Thr162Ala No assertion criteria CCDC33-related disorder
p.Thr485Met No assertion criteria CCDC33-related disorder

Uncertain significance 129

p.Ala150Thr Single submitter
p.Ala203Ser Single submitter
p.Ala352Val Single submitter
p.Ala479Thr Single submitter
p.Ala529Ser Single submitter
p.Ala529Thr Single submitter
p.Ala622Val Single submitter
p.Ala665Thr Single submitter
p.Arg132His Single submitter
p.Arg172Cys Single submitter
p.Arg204Trp Single submitter
p.Arg275Gln Single submitter
p.Arg319His Single submitter
p.Arg337Trp Single submitter
p.Arg436Gln Single submitter
p.Arg436Trp Single submitter
p.Arg437Trp Single submitter
p.Arg466Cys Single submitter
p.Arg466Leu Single submitter
p.Arg519Gln Single submitter
p.Arg555Trp Single submitter
p.Arg625Gln Single submitter
p.Arg625Trp Single submitter
p.Arg632Cys Single submitter
p.Arg632His Single submitter
p.Arg668Trp Single submitter
p.Arg693Gln Single submitter
p.Arg693Trp Single submitter
p.Asn197Lys Single submitter
p.Asn369Ile Single submitter
p.Asn374Lys Single submitter
p.Asn433Asp Single submitter
p.Asn517Ser Single submitter
p.Asn621His Single submitter
p.Asp151Asn Single submitter
p.Asp388Gly Single submitter
p.Asp401Glu Single submitter
p.Asp570Gly Single submitter
p.Asp574Gly Single submitter
p.Gln253Arg Single submitter
p.Gln273Arg Single submitter
p.Gln483Arg Single submitter
p.Gln490Pro Single submitter
p.Gln573Leu Single submitter
p.Glu262Gln Single submitter
p.Glu368Gln Single submitter
p.Glu396Val Single submitter
p.Glu418Asp Single submitter
p.Glu512Lys Single submitter
p.Glu55Lys Single submitter
p.Glu562Lys Single submitter
p.Gly250Arg Single submitter
p.Gly259Glu Single submitter
p.Gly274Asp Single submitter
p.Gly299Val Single submitter
p.Gly477Ser Single submitter
p.Gly700Arg Single submitter
p.Gly700Cys Single submitter
p.His135Arg Single submitter
p.Ile128Phe Single submitter
p.Ile170Lys Single submitter
p.Ile174Val Single submitter
p.Ile394Thr Single submitter
p.Ile639Val Single submitter
p.Leu159Met Single submitter
p.Leu159Val Single submitter
p.Leu181Pro Single submitter
p.Leu271Ile Single submitter
p.Leu271Phe Single submitter
p.Leu316Pro Single submitter
p.Leu387Val Single submitter
p.Leu41Arg Single submitter
p.Leu463Pro Single submitter
p.Leu509Phe Single submitter
p.Leu525Phe Single submitter
p.Leu572Val Single submitter
p.Leu649Pro Single submitter
p.Leu658His Single submitter
p.Leu658Phe Single submitter
p.Leu694Arg Single submitter
p.Leu739Phe Single submitter
p.Lys149Arg Single submitter
p.Lys213Asn Single submitter
p.Lys400Glu Single submitter
p.Met179Val Single submitter
p.Met432Ile Single submitter
p.Met442Ile Single submitter
p.Met488Leu Single submitter
p.Met499Arg Single submitter
p.Met564Val Single submitter
p.Phe169Leu Single submitter
p.Pro136Ser Single submitter
p.Pro15Leu Single submitter
p.Pro244Thr Single submitter
p.Pro24Thr Single submitter
p.Pro56Leu Single submitter
p.Pro579Arg Single submitter
p.Pro593Ser Single submitter
p.Pro646Leu Single submitter
p.Pro704Leu Single submitter
p.Pro725Leu Single submitter
p.Pro730Leu Single submitter
p.Ser168Thr Single submitter
p.Ser215Gly Single submitter
p.Ser21Ile Single submitter
p.Ser223Cys Single submitter
p.Ser237Phe Single submitter
p.Ser344Gly Single submitter
p.Ser448Pro Single submitter
p.Ser465Ile Single submitter
p.Ser653Leu Single submitter
p.Ser671Phe Single submitter
p.Ser705Leu Single submitter
p.Ser734Asn Single submitter
p.Thr304Ile Single submitter
p.Thr343Ile Single submitter
p.Thr347Ala Single submitter
p.Thr347Ile Single submitter
p.Thr372Ile Single submitter
p.Thr402Ala Single submitter
p.Thr626Met Single submitter
p.Thr93Met Single submitter
p.Tyr540His Single submitter
p.Tyr59Cys Single submitter
p.Val142Gly Single submitter
p.Val163Ile Single submitter
p.Val243Met Single submitter
p.Val288Met Single submitter
p.Val355Met Single submitter