CDC5L — 106 ClinVar variants
All ClinVar germline CDC5L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
27 Benign · 14 Likely benign · 65 Uncertain significance
Full CDC5L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC5L p.Ala234Val Uncertain significance Single submitter
- CDC5L p.Ala457Thr Uncertain significance Single submitter
- CDC5L p.Ala485Thr Uncertain significance Single submitter
- CDC5L p.Arg202Lys Uncertain significance Single submitter
- CDC5L p.Arg202Thr Uncertain significance Single submitter
- CDC5L p.Arg445Pro Uncertain significance Single submitter
- CDC5L p.Arg536Gln Uncertain significance Single submitter
- CDC5L p.Arg676Cys Uncertain significance Single submitter
- CDC5L p.Arg727His Uncertain significance Single submitter
- CDC5L p.Arg750His Uncertain significance Single submitter
- CDC5L p.Asn342Ser Uncertain significance Single submitter
- CDC5L p.Asn374Ser Uncertain significance Single submitter
- CDC5L p.Asn681Ser Uncertain significance Single submitter
- CDC5L p.Asp458Glu Uncertain significance Single submitter
- CDC5L p.Gln233Arg Uncertain significance Single submitter
- CDC5L p.Glu217Ala Uncertain significance Single submitter
- CDC5L p.Ile142Val Uncertain significance Single submitter
- CDC5L p.Ile362Leu Uncertain significance Single submitter
- CDC5L p.Ile512Thr Uncertain significance Single submitter
- CDC5L p.Leu123Val Uncertain significance Single submitter
- CDC5L p.Leu71Val Uncertain significance Single submitter
- CDC5L p.Lys174Glu Uncertain significance Single submitter
- CDC5L p.Lys255Arg Uncertain significance Single submitter
-
CDC5L p.Lys601Arg
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- CDC5L p.Met370Thr Uncertain significance Single submitter
- CDC5L p.Met370Val Uncertain significance Single submitter
-
CDC5L p.Met582Arg
Uncertain significance
Single submitter
CDC5L-related disorder
- CDC5L p.Met729Val Uncertain significance Single submitter
- CDC5L p.Pro397Ser Uncertain significance Single submitter
- CDC5L p.Pro462Thr Uncertain significance Single submitter
- CDC5L p.Pro563Leu Uncertain significance Single submitter
- CDC5L p.Thr510Pro Uncertain significance Single submitter
- CDC5L p.Thr704Ala Uncertain significance Single submitter
- CDC5L p.Thr797Ala Uncertain significance Single submitter
- CDC5L p.Thr797Ser Uncertain significance Single submitter
- CDC5L p.Tyr100Cys Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CDC5L p.Arg321Cys Uncertain significance Single submitter
- CDC5L p.Arg321His Uncertain significance Single submitter
- CDC5L p.Arg399Leu Uncertain significance Single submitter
-
CDC5L p.Arg426Gln
Uncertain significance
Single submitter
CDC5L-related disorder
- CDC5L p.Arg473Gly Uncertain significance Single submitter
- CDC5L p.Arg521Gln Uncertain significance Single submitter
- CDC5L p.Arg530Gly Uncertain significance Single submitter
- CDC5L p.Arg750Cys Uncertain significance Single submitter
- CDC5L p.Asp238Gly Uncertain significance Single submitter
- CDC5L p.Asp259Asn Uncertain significance Single submitter
- CDC5L p.Glu213Asp Uncertain significance Single submitter
- CDC5L p.Glu529Asp Uncertain significance Single submitter
- CDC5L p.His589Tyr Uncertain significance Single submitter
- CDC5L p.His618Pro Uncertain significance Single submitter
- CDC5L p.His649Leu Uncertain significance Single submitter
- CDC5L p.His746Tyr Likely benign Single submitter
- CDC5L p.Ile196Leu Uncertain significance Single submitter
- CDC5L p.Ile689Thr Uncertain significance Single submitter
- CDC5L p.Ile742Thr Uncertain significance Single submitter
- CDC5L p.Leu149Phe Uncertain significance Single submitter
- CDC5L p.Lys268Glu Uncertain significance Single submitter
- CDC5L p.Lys539Thr Uncertain significance Single submitter
- CDC5L p.Pro439Leu Uncertain significance Single submitter
- CDC5L p.Ser684Gly Uncertain significance Single submitter
- CDC5L p.Thr438Ile Uncertain significance Single submitter
- CDC5L p.Thr566Ile Uncertain significance Single submitter
- CDC5L p.Thr581Ile Uncertain significance Single submitter
- CDC5L p.Tyr621Cys Uncertain significance Single submitter
-
CDC5L p.Leu720Phe
Benign
No assertion criteria
CDC5L-related disorder
- CDC5L p.Pro672Ser Uncertain significance No assertion criteria
-
CDC5L p.Tyr459Cys
Benign
No assertion criteria
CDC5L-related disorder
All CDC5L variants
Benign 27
- c.1241+183C>G Single submitter
- c.1241+256C>A Single submitter
- c.1404+218G>T Single submitter
- c.1405-140A>C Single submitter
- c.149+336T>G Single submitter
- c.150-249T>A Single submitter
- c.1569+194G>A Single submitter
- c.1570-205G>A Single submitter
- c.1894-169G>C Single submitter
- c.2091+235T>C Single submitter
- c.2304+132A>G Single submitter
- c.311+115A>G Single submitter
- c.45+77G>A Single submitter
- c.45+94T>C Single submitter
- c.46-121T>G Single submitter
- c.759-4A>G Single submitter
- c.903+263A>G Single submitter
- c.903+304G>A Single submitter
- c.904-262T>C Single submitter
- p.Ala93= Single submitter
- p.Asp236= Single submitter
- p.Glu146= Single submitter
- p.His618= Single submitter
- p.Leu721= Single submitter
- p.Ala305= No assertion criteria CDC5L-related disorder
- p.Leu720Phe No assertion criteria CDC5L-related disorder ⚠
- p.Tyr459Cys No assertion criteria CDC5L-related disorder ⚠
Likely benign 14
- p.Ala498= Single submitter
- p.Arg180= Single submitter
- p.His746Tyr Single submitter ⚠
- p.Val310Ala Single submitter
- c.904-10G>A No assertion criteria CDC5L-related disorder
- c.-2A>G No assertion criteria CDC5L-related disorder
- c.-7C>T No assertion criteria CDC5L-related disorder
- p.Ala22= No assertion criteria CDC5L-related disorder
- p.Ala516= No assertion criteria CDC5L-related disorder
- p.Leu176= No assertion criteria CDC5L-related disorder
- p.Lys380= No assertion criteria CDC5L-related disorder
- p.Lys500= No assertion criteria CDC5L-related disorder
- p.Pro132= No assertion criteria CDC5L-related disorder
- p.Pro79= No assertion criteria CDC5L-related disorder
Uncertain significance 65
- p.Ala234Val Single submitter ⚠
- p.Ala457Thr Single submitter ⚠
- p.Ala485Thr Single submitter ⚠
- p.Arg202Lys Single submitter ⚠
- p.Arg202Thr Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg321His Single submitter ⚠
- p.Arg399Leu Single submitter ⚠
- p.Arg426Gln Single submitter CDC5L-related disorder ⚠
- p.Arg445Pro Single submitter ⚠
- p.Arg473Gly Single submitter ⚠
- p.Arg521Gln Single submitter ⚠
- p.Arg530Gly Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg676Cys Single submitter ⚠
- p.Arg727His Single submitter ⚠
- p.Arg750Cys Single submitter ⚠
- p.Arg750His Single submitter ⚠
- p.Asn342Ser Single submitter ⚠
- p.Asn374Ser Single submitter ⚠
- p.Asn681Ser Single submitter ⚠
- p.Asp238Gly Single submitter ⚠
- p.Asp259Asn Single submitter ⚠
- p.Asp458Glu Single submitter ⚠
- p.Gln233Arg Single submitter ⚠
- p.Glu213Asp Single submitter ⚠
- p.Glu217Ala Single submitter ⚠
- p.Glu529Asp Single submitter ⚠
- p.His589Tyr Single submitter ⚠
- p.His618Pro Single submitter ⚠
- p.His649Leu Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile196Leu Single submitter ⚠
- p.Ile362Leu Single submitter ⚠
- p.Ile512Thr Single submitter ⚠
- p.Ile689Thr Single submitter ⚠
- p.Ile742Thr Single submitter ⚠
- p.Leu123Val Single submitter ⚠
- p.Leu149Phe Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Lys174Glu Single submitter ⚠
- p.Lys255Arg Single submitter ⚠
- p.Lys268Glu Single submitter ⚠
- p.Lys539Thr Single submitter ⚠
- p.Lys601Arg Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Met370Thr Single submitter ⚠
- p.Met370Val Single submitter ⚠
- p.Met582Arg Single submitter CDC5L-related disorder ⚠
- p.Met729Val Single submitter ⚠
- p.Pro397Ser Single submitter ⚠
- p.Pro439Leu Single submitter ⚠
- p.Pro462Thr Single submitter ⚠
- p.Pro563Leu Single submitter ⚠
- p.Ser684Gly Single submitter ⚠
- p.Thr438Ile Single submitter ⚠
- p.Thr510Pro Single submitter ⚠
- p.Thr566Ile Single submitter ⚠
- p.Thr581Ile Single submitter ⚠
- p.Thr704Ala Single submitter ⚠
- p.Thr797Ala Single submitter ⚠
- p.Thr797Ser Single submitter ⚠
- p.Tyr100Cys Single submitter ⚠
- p.Tyr621Cys Single submitter ⚠
- p.Arg49= No assertion criteria CDC5L-related disorder
- p.Pro672Ser No assertion criteria ⚠