CCDC13 — 121 ClinVar variants

All ClinVar germline CCDC13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

1 Benign · 13 Likely benign · 107 Uncertain significance

Full CCDC13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 59

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

Predictors split 50

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

All CCDC13 variants

Benign 1

p.Asp55Gly Single submitter

Likely benign 13

p.Ala129= Single submitter
p.Ala646Thr Single submitter
p.Arg170Gln Single submitter
p.Arg34Lys Single submitter
p.Arg353Lys Single submitter
p.Arg425Gln Single submitter ⚠
p.Arg445Gln Single submitter
p.Asp650Asn Single submitter
p.Glu48Lys Single submitter ⚠
p.Ile666Val Single submitter
p.Ser368Asn Single submitter
p.Ser534Leu Single submitter
p.Val653Met Single submitter

Uncertain significance 107

p.Glu565Lys Multiple submitters ⚠
p.Ala129Thr Single submitter ⚠
p.Ala175Thr Single submitter ⚠
p.Ala187Thr Single submitter ⚠
p.Ala332Gly Single submitter ⚠
p.Ala3Val Single submitter ⚠
p.Ala517Val Single submitter ⚠
p.Ala544Thr Single submitter ⚠
p.Ala62Ser Single submitter ⚠
p.Arg104Thr Single submitter ⚠
p.Arg145Gln Single submitter ⚠
p.Arg145Trp Single submitter ⚠
p.Arg164Cys Single submitter ⚠
p.Arg164His Single submitter ⚠
p.Arg164Ser Single submitter ⚠
p.Arg236Trp Single submitter ⚠
p.Arg318Cys Single submitter ⚠
p.Arg318His Single submitter ⚠
p.Arg335Gln Single submitter ⚠
p.Arg335Trp Single submitter ⚠
p.Arg355Trp Single submitter ⚠
p.Arg378Gln Single submitter ⚠
p.Arg378Trp Single submitter ⚠
p.Arg409Gln Single submitter ⚠
p.Arg425Trp Single submitter ⚠
p.Arg440Gln Single submitter ⚠
p.Arg440Pro Single submitter ⚠
p.Arg460Trp Single submitter ⚠
p.Arg471Cys Single submitter ⚠
p.Arg471His Single submitter ⚠
p.Arg471Leu Single submitter ⚠
p.Arg504Cys Single submitter ⚠
p.Arg562Gln Single submitter ⚠
p.Arg562Trp Single submitter ⚠
p.Arg573Trp Single submitter ⚠
p.Arg594Leu Single submitter ⚠
p.Arg690Trp Single submitter ⚠
p.Arg74Trp Single submitter ⚠
p.Asp385Asn Single submitter ⚠
p.Asp45Val Single submitter ⚠
p.Asp46Glu Single submitter ⚠
p.Asp495Asn Single submitter ⚠
p.Asp4Asn Single submitter ⚠
p.Asp535Gly Single submitter ⚠
p.Asp561Tyr Single submitter ⚠
p.Asp78Asn Single submitter ⚠
p.Gln233Arg Single submitter ⚠
p.Gln267Pro Single submitter ⚠
p.Gln616Glu Single submitter ⚠
p.Gln698Arg Single submitter ⚠
p.Glu116Lys Single submitter ⚠
p.Glu20Lys Single submitter ⚠
p.Glu321Gln Single submitter ⚠
p.Glu323Gly Single submitter ⚠
p.Glu382Gln Single submitter ⚠
p.Glu538Lys Single submitter ⚠
p.Glu576Lys Single submitter ⚠
p.Glu590Lys Single submitter ⚠
p.Glu639Lys Single submitter ⚠
p.Glu658Asp Single submitter ⚠
p.Gly127Ser Single submitter ⚠
p.Gly153Asp Single submitter ⚠
p.Gly470Val Single submitter ⚠
p.Gly637Arg Single submitter ⚠
p.Gly637Val Single submitter ⚠
p.Gly697Asp Single submitter ⚠
p.His496Arg Single submitter ⚠
p.His511Tyr Single submitter ⚠
p.His601Asn Single submitter ⚠
p.His82Tyr Single submitter ⚠
p.Leu373Val Single submitter ⚠
p.Leu387Val Single submitter ⚠
p.Leu40Phe Single submitter ⚠
p.Leu59Val Single submitter ⚠
p.Leu648Ile Single submitter ⚠
p.Leu696Val Single submitter ⚠
p.Lys182Glu Single submitter ⚠
p.Lys28Thr Single submitter ⚠
p.Lys357Gln Single submitter ⚠
p.Lys36Glu Single submitter ⚠
p.Lys540Glu Single submitter ⚠
p.Lys550Glu Single submitter ⚠
p.Lys711Asn Single submitter ⚠
p.Met237Ile Single submitter ⚠
p.Met30Ile Single submitter ⚠
p.Met388Val Single submitter ⚠
p.Met436Val Single submitter ⚠
p.Phe122Tyr Single submitter ⚠
p.Pro192Arg Single submitter ⚠
p.Pro521Ser Single submitter ⚠
p.Pro627Leu Single submitter ⚠
p.Pro635Thr Single submitter ⚠
p.Pro652Ser Single submitter ⚠
p.Ser39Arg Single submitter ⚠
p.Ser469Gly Single submitter ⚠
p.Ser577Asn Single submitter ⚠
p.Ser638Asn Single submitter ⚠
p.Thr217Ser Single submitter ⚠
p.Thr293Ile Single submitter ⚠
p.Thr478Ile Single submitter ⚠
p.Thr519Met Single submitter ⚠
p.Val128Ile Single submitter ⚠
p.Val132Leu Single submitter ⚠
p.Val246Ala Single submitter ⚠
p.Val546Met Single submitter ⚠
p.Val574Leu Single submitter ⚠
p.Val651Met Single submitter ⚠