CC2D1B — 180 ClinVar variants

All ClinVar germline CC2D1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →

3 Benign · 11 Likely benign · 166 Uncertain significance

Full CC2D1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 169

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 95

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

Predictors split 74

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

All CC2D1B variants

Benign 3

p.Gly790= Multiple submitters
p.Leu511= Multiple submitters
p.Ser692= Single submitter

Likely benign 11

p.His674Tyr Multiple submitters
p.Arg502Gln Single submitter
p.Gln509Arg Single submitter
p.Ser133= Single submitter
p.Ser163Pro Single submitter ⚠
p.Ser453Pro Single submitter
p.Thr142Ile Single submitter ⚠
p.Val272Ile Single submitter ⚠
p.Val371Ile Single submitter
p.Val580Ile Single submitter
p.Val837Met Single submitter

Uncertain significance 166

p.Ala103Gly Single submitter ⚠
p.Ala180Ser Single submitter ⚠
p.Ala181Thr Single submitter ⚠
p.Ala181Val Single submitter ⚠
p.Ala208Thr Single submitter ⚠
p.Ala251Thr Single submitter ⚠
p.Ala294Val Single submitter ⚠
p.Ala297Val Single submitter ⚠
p.Ala306Thr Single submitter ⚠
p.Ala306Val Single submitter ⚠
p.Ala346Ser Single submitter ⚠
p.Ala346Thr Single submitter ⚠
p.Ala359Val Single submitter ⚠
p.Ala461Thr Single submitter ⚠
p.Ala516Asp Single submitter ⚠
p.Ala559Pro Single submitter ⚠
p.Ala564Val Single submitter ⚠
p.Ala569Gly Single submitter ⚠
p.Ala615Thr Single submitter ⚠
p.Ala732Pro Single submitter ⚠
p.Ala792Val Single submitter ⚠
p.Arg178Gln Single submitter ⚠
p.Arg230Trp Single submitter ⚠
p.Arg299Gln Single submitter ⚠
p.Arg305Cys Single submitter ⚠
p.Arg305His Single submitter ⚠
p.Arg305Leu Single submitter ⚠
p.Arg307Leu Single submitter ⚠
p.Arg362Gln Single submitter ⚠
p.Arg412Gln Single submitter ⚠
p.Arg416Cys Single submitter ⚠
p.Arg426Gln Single submitter ⚠
p.Arg429Gln Single submitter ⚠
p.Arg432Gln Single submitter ⚠
p.Arg432Trp Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg510Cys Single submitter ⚠
p.Arg510Leu Single submitter ⚠
p.Arg543Gln Single submitter ⚠
p.Arg550His Single submitter ⚠
p.Arg562Gln Single submitter ⚠
p.Arg575Gln Single submitter ⚠
p.Arg654Ser Single submitter ⚠
p.Arg6Lys Single submitter ⚠
p.Arg721Gln Single submitter ⚠
p.Arg721Trp Single submitter ⚠
p.Arg758Gln Single submitter ⚠
p.Arg761Gln Single submitter ⚠
p.Arg798Gln Single submitter ⚠
p.Arg798Trp Single submitter ⚠
p.Arg829Gln Single submitter ⚠
p.Arg8Gln Single submitter ⚠
p.Asn239His Single submitter ⚠
p.Asn256Ser Single submitter ⚠
p.Asn757Ser Single submitter ⚠
p.Asn759Asp Single submitter ⚠
p.Asp330Asn Single submitter ⚠
p.Asp47His Single submitter ⚠
p.Asp714Asn Single submitter ⚠
p.Asp717His Single submitter ⚠
p.Asp717Val Single submitter ⚠
p.Asp85Gly Single submitter ⚠
p.Cys628Trp Single submitter ⚠
p.Cys803Arg Single submitter ⚠
p.Cys86Arg Single submitter ⚠
p.Gln382His Single submitter ⚠
p.Gln552Glu Single submitter ⚠
p.Gln625Glu Single submitter ⚠
p.Gln638Glu Single submitter ⚠
p.Gln665His Single submitter ⚠
p.Glu100Lys Single submitter ⚠
p.Glu136Lys Single submitter ⚠
p.Glu143Asp Single submitter ⚠
p.Glu143Gln Single submitter ⚠
p.Glu171Lys Single submitter ⚠
p.Glu179Asp Single submitter ⚠
p.Glu197Gln Single submitter ⚠
p.Glu302Gly Single submitter ⚠
p.Glu408Lys Single submitter ⚠
p.Glu41Ala Single submitter ⚠
p.Glu58Ala Single submitter ⚠
p.Glu592Asp Single submitter ⚠
p.Glu611Ala Single submitter ⚠
p.Glu612Val Single submitter ⚠
p.Glu626Gln Single submitter ⚠
p.Glu800Gln Single submitter ⚠
p.Glu802Lys Single submitter ⚠
p.Gly124Asp Single submitter ⚠
p.Gly138Ser Single submitter ⚠
p.Gly161Arg Single submitter ⚠
p.Gly228Arg Single submitter ⚠
p.Gly762Ser Single submitter ⚠
p.Gly819Arg Single submitter ⚠
p.Gly820Glu Single submitter ⚠
p.His601Tyr Single submitter ⚠
p.His637Tyr Single submitter ⚠
p.His696Arg Single submitter ⚠
p.His696Tyr Single submitter ⚠
p.Ile417Thr Single submitter ⚠
p.Leu169Ser Single submitter ⚠
p.Leu170Val Single submitter ⚠
p.Leu26Val Single submitter ⚠
p.Leu309Pro Single submitter ⚠
p.Leu323Arg Single submitter ⚠
p.Leu582Met Single submitter ⚠
p.Leu589Ser Single submitter ⚠
p.Leu604Gln Single submitter ⚠
p.Leu606Phe Single submitter ⚠
p.Leu629Val Single submitter ⚠
p.Leu690Phe Single submitter ⚠
p.Leu74Val Single submitter ⚠
p.Leu852Ser Single submitter ⚠
p.Lys291Arg Single submitter ⚠
p.Lys291Glu Single submitter ⚠
p.Lys549Met Single submitter ⚠
p.Lys565Ile Single submitter ⚠
p.Lys609Asn Single submitter ⚠
p.Lys633Arg Single submitter ⚠
p.Lys773Asn Single submitter ⚠
p.Lys787Arg Single submitter ⚠
p.Lys821Glu Single submitter ⚠
p.Met367Ile Single submitter ⚠
p.Met455Ile Single submitter ⚠
p.Met620Ile Single submitter ⚠
p.Met636Thr Single submitter ⚠
p.Met695Ile Single submitter ⚠
p.Met695Thr Single submitter ⚠
p.Met87Val Single submitter ⚠
p.Phe436Ser Single submitter ⚠
p.Phe445Leu Single submitter ⚠
p.Phe719Leu Single submitter ⚠
p.Phe724Leu Single submitter ⚠
p.Phe752Val Single submitter ⚠
p.Pro121His Single submitter ⚠
p.Pro144Leu Single submitter ⚠
p.Pro144Ser Single submitter ⚠
p.Pro145Ser Single submitter ⚠
p.Pro246Leu Single submitter ⚠
p.Pro336Leu Single submitter ⚠
p.Pro358Arg Single submitter ⚠
p.Pro375Leu Single submitter ⚠
p.Pro495Ser Single submitter ⚠
p.Pro500Ser Single submitter ⚠
p.Pro525Leu Single submitter ⚠
p.Pro672Ala Single submitter ⚠
p.Pro709Ser Single submitter ⚠
p.Pro713Ser Single submitter ⚠
p.Pro75Ser Single submitter ⚠
p.Ser205Leu Single submitter ⚠
p.Ser551Arg Single submitter ⚠
p.Ser576Cys Single submitter ⚠
p.Ser576Phe Single submitter ⚠
p.Ser583Tyr Single submitter ⚠
p.Ser587Leu Single submitter ⚠
p.Ser735Asn Single submitter ⚠
p.Ser833Gly Single submitter ⚠
p.Thr107Met Single submitter ⚠
p.Thr142Ser Single submitter ⚠
p.Thr465Ile Single submitter ⚠
p.Val115Met Single submitter ⚠
p.Val150Asp Single submitter ⚠
p.Val18Met Single submitter ⚠
p.Val366Ala Single submitter ⚠
p.Val441Ala Single submitter ⚠
p.Val585Met Single submitter ⚠
p.Val846Leu Single submitter ⚠