CDH13 — 212 ClinVar variants
All ClinVar germline CDH13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
55 Benign · 3 Benign/Likely benign · 30 Likely benign · 124 Uncertain significance
Full CDH13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDH13 p.Ala694Thr Uncertain significance Single submitter
- CDH13 p.Ala89Val Uncertain significance Single submitter
- CDH13 p.Arg170Lys Uncertain significance Single submitter
- CDH13 p.Arg201Gln Uncertain significance Single submitter
- CDH13 p.Arg266Gln Uncertain significance Single submitter
- CDH13 p.Arg676Thr Uncertain significance Single submitter
- CDH13 p.Arg99Gln Uncertain significance Single submitter
- CDH13 p.Asn285Ile Uncertain significance Single submitter
- CDH13 p.Asn472Ser Uncertain significance Single submitter
- CDH13 p.Asn530Ser Uncertain significance Single submitter
- CDH13 p.Asn651Ser Uncertain significance Single submitter
- CDH13 p.Asn76Lys Uncertain significance Single submitter
- CDH13 p.Asp116His Uncertain significance Single submitter
- CDH13 p.Asp123Gly Uncertain significance Single submitter
- CDH13 p.Asp292Glu Uncertain significance Single submitter
- CDH13 p.Asp470Val Uncertain significance Single submitter
- CDH13 p.Asp547Asn Uncertain significance Single submitter
- CDH13 p.Asp594Gly Uncertain significance Single submitter
- CDH13 p.Asp78Val Uncertain significance Single submitter
- CDH13 p.Gln136Lys Uncertain significance Single submitter
- CDH13 p.Gln212Glu Uncertain significance Single submitter
- CDH13 p.Gln288Arg Uncertain significance Single submitter
- CDH13 p.Gln678His Uncertain significance Single submitter
- CDH13 p.Glu373Lys Uncertain significance Single submitter
- CDH13 p.His37Arg Uncertain significance Single submitter
- CDH13 p.His37Asn Uncertain significance Single submitter
- CDH13 p.His623Asp Uncertain significance Single submitter
- CDH13 p.His623Gln Uncertain significance Single submitter
- CDH13 p.Ile234Val Uncertain significance Single submitter
- CDH13 p.Ile236Val Uncertain significance Single submitter
- CDH13 p.Ile244Val Uncertain significance Single submitter
-
CDH13 p.Ile585Val
Uncertain significance
Single submitter
CDH13-related disorder
- CDH13 p.Ile87Leu Uncertain significance Single submitter
- CDH13 p.Leu121Ser Uncertain significance Single submitter
- CDH13 p.Leu282Pro Uncertain significance Single submitter
- CDH13 p.Leu430Ser Uncertain significance Single submitter
- CDH13 p.Leu51Val Uncertain significance Single submitter
- CDH13 p.Lys161Arg Uncertain significance Single submitter
- CDH13 p.Lys161Met Uncertain significance Single submitter
- CDH13 p.Lys624Arg Uncertain significance Single submitter
- CDH13 p.Met255Thr Uncertain significance Single submitter
- CDH13 p.Met483Val Uncertain significance Single submitter
- CDH13 p.Phe363Val Uncertain significance Single submitter
- CDH13 p.Pro3Leu Uncertain significance Single submitter
- CDH13 p.Pro452Ser Uncertain significance Single submitter
- CDH13 p.Pro458Thr Uncertain significance Single submitter
- CDH13 p.Pro700Ala Uncertain significance Single submitter
- CDH13 p.Ser196Ile Uncertain significance Single submitter
- CDH13 p.Ser455Phe Uncertain significance Single submitter
- CDH13 p.Ser645Asn Uncertain significance Single submitter
- CDH13 p.Ser69Trp Uncertain significance Single submitter
- CDH13 p.Thr218Ile Uncertain significance Single submitter
- CDH13 p.Thr290Lys Uncertain significance Single submitter
- CDH13 p.Thr93Ser Uncertain significance Single submitter
- CDH13 p.Val197Ile Uncertain significance Single submitter
- CDH13 p.Val341Ala Uncertain significance Single submitter
- CDH13 p.Val96Phe Uncertain significance Single submitter
- CDH13 p.Thr568Ser Uncertain significance No assertion criteria
Predictors split 64
The independent predictors disagree with each other — read with care.
- CDH13 p.Ala209Thr Uncertain significance Single submitter
- CDH13 p.Ala315Val Uncertain significance Single submitter
- CDH13 p.Ala537Val Uncertain significance Single submitter
- CDH13 p.Ala692Val Uncertain significance Single submitter
- CDH13 p.Arg174Gln Uncertain significance Single submitter
- CDH13 p.Arg283Trp Uncertain significance Single submitter
- CDH13 p.Asn416Lys Uncertain significance Single submitter
- CDH13 p.Asn548Tyr Uncertain significance Single submitter
- CDH13 p.Asn61Ser Uncertain significance Single submitter
- CDH13 p.Asp158Tyr Uncertain significance Single submitter
- CDH13 p.Asp164Asn Uncertain significance Single submitter
- CDH13 p.Asp274Asn Uncertain significance Single submitter
- CDH13 p.Glu216Asp Uncertain significance Single submitter
- CDH13 p.Glu421Lys Uncertain significance Single submitter
- CDH13 p.Gly378Ala Uncertain significance Single submitter
- CDH13 p.Gly693Arg Uncertain significance Single submitter
- CDH13 p.Ile351Val Uncertain significance Single submitter
- CDH13 p.Ile45Thr Uncertain significance Single submitter
- CDH13 p.Leu213Val Uncertain significance Single submitter
- CDH13 p.Leu424Val Uncertain significance Single submitter
- CDH13 p.Leu440Val Uncertain significance Single submitter
- CDH13 p.Leu84Pro Uncertain significance Single submitter
- CDH13 p.Leu9Pro Uncertain significance Single submitter
- CDH13 p.Lys172Thr Uncertain significance Single submitter
- CDH13 p.Lys666Arg Uncertain significance Single submitter
- CDH13 p.Phe95Leu Uncertain significance Single submitter
- CDH13 p.Pro101Ser Uncertain significance Single submitter
- CDH13 p.Pro101Thr Uncertain significance Single submitter
- CDH13 p.Pro154Ser Uncertain significance Single submitter
- CDH13 p.Pro168Ser Uncertain significance Single submitter
- CDH13 p.Pro417Arg Uncertain significance Single submitter
- CDH13 p.Pro481Arg Uncertain significance Single submitter
- CDH13 p.Pro481His Uncertain significance Single submitter
- CDH13 p.Pro481Thr Uncertain significance Single submitter
- CDH13 p.Pro563Leu Uncertain significance Single submitter
- CDH13 p.Pro617Thr Uncertain significance Single submitter
- CDH13 p.Pro658His Uncertain significance Single submitter
- CDH13 p.Pro667Leu Uncertain significance Single submitter
- CDH13 p.Ser131Phe Uncertain significance Single submitter
- CDH13 p.Ser196Arg Uncertain significance Single submitter
- CDH13 p.Ser21Pro Uncertain significance Single submitter
- CDH13 p.Ser258Thr Uncertain significance Single submitter
- CDH13 p.Ser600Ile Uncertain significance Single submitter
- CDH13 p.Ser681Phe Uncertain significance Single submitter
- CDH13 p.Ser698Arg Uncertain significance Single submitter
- CDH13 p.Ser698Asn Uncertain significance Single submitter
- CDH13 p.Thr268Ile Uncertain significance Single submitter
- CDH13 p.Thr290Met Uncertain significance Single submitter
- CDH13 p.Thr344Ala Uncertain significance Single submitter
- CDH13 p.Thr346Met Uncertain significance Single submitter
- CDH13 p.Thr502Met Uncertain significance Single submitter
- CDH13 p.Thr588Arg Uncertain significance Single submitter
- CDH13 p.Thr588Lys Uncertain significance Single submitter
- CDH13 p.Thr670Met Uncertain significance Single submitter
- CDH13 p.Val159Ala Uncertain significance Single submitter
- CDH13 p.Val162Ile Uncertain significance Single submitter
- CDH13 p.Val199Met Uncertain significance Single submitter
- CDH13 p.Val254Ile Uncertain significance Single submitter
- CDH13 p.Val385Ile Uncertain significance Single submitter
- CDH13 p.Val451Ile Uncertain significance Single submitter
- CDH13 p.Val495Met Uncertain significance Single submitter
- CDH13 p.Val550Met Uncertain significance Single submitter
- CDH13 p.Val578Leu Uncertain significance Single submitter
-
CDH13 p.Lys293Gln
Uncertain significance
No assertion criteria
CDH13-related disorder
All CDH13 variants
Benign 55
- c.1102-6T>C Multiple submitters
- c.1284+90A>G Multiple submitters
- c.1539-109T>C Multiple submitters
- c.1681+140A>C Multiple submitters
- c.1681+64T>C Multiple submitters
- c.1682-151C>T Multiple submitters
- c.1682-180G>A Multiple submitters
- c.1682-59A>G Multiple submitters
- c.1682-62G>A Multiple submitters
- c.1916-31A>G Multiple submitters
- c.2135-140A>G Multiple submitters
- c.2135-84C>G Multiple submitters
- c.366+142T>A Multiple submitters
- c.366+81T>C Multiple submitters
- c.45+12305C>T Multiple submitters
- c.45+12348T>G Multiple submitters
- c.46-71G>A Multiple submitters
- c.483+244A>C Multiple submitters
- c.483+49T>C Multiple submitters
- c.636+108G>A Multiple submitters
- c.782-4G>A Multiple submitters
- c.960+38T>C Multiple submitters
- c.960+82G>A Multiple submitters
- c.*281A>G Multiple submitters
- p.Ala692= Multiple submitters
- p.Asn39Ser Multiple submitters
- p.Asp453= Multiple submitters
- p.Gln288= Multiple submitters
- p.Gln648= Multiple submitters
- p.Ser69= Multiple submitters
- c.1101+190_1101+191insT Single submitter
- c.1539-311C>T Single submitter
- c.158-124G>C Single submitter
- c.158-212T>C Single submitter
- c.158-246G>C Single submitter
- c.1682-279T>C Single submitter
- c.1682-329A>G Single submitter
- c.1915+270T>A Single submitter
- c.1916-222C>G Single submitter
- c.1916-238T>C Single submitter
- c.1916-280C>T Single submitter
- c.1916-295T>C Single submitter
- c.2135-175A>G Single submitter
- c.367-112A>G Single submitter
- c.45+212T>C Single submitter
- c.46-309A>G Single submitter
- c.484-126C>A Single submitter
- c.636+157C>A Single submitter
- c.782-100G>T Single submitter
- c.960+183C>G Single submitter
- c.961-10T>C Single submitter
- p.Asn472= Single submitter
- p.Asp219= Single submitter
- p.Leu643= Single submitter
- c.45+12327A>G No assertion criteria CDH13-related disorder
Benign/Likely benign 3
- c.636+8C>T Multiple submitters
- p.Ala376Thr Multiple submitters
- p.Val112Ile Multiple submitters
Likely benign 30
- p.Asn404= Multiple submitters
- p.Glu367Gln Multiple submitters
- p.Gly113Arg Multiple submitters
- p.Leu643Arg Multiple submitters
- p.Thr346= Multiple submitters
- c.1681+8C>G Single submitter
- p.Arg4= Single submitter
- p.Arg65His Single submitter
- p.Gly80Ser Single submitter
- p.His253= Single submitter
- p.Leu12= Single submitter
- p.Leu213= Single submitter
- p.Met352Val Single submitter
- p.Pro6= Single submitter
- p.Ser14= Single submitter
- p.Ser709Thr Single submitter
- p.Thr463= Single submitter
- p.Thr5= Single submitter
- p.Val476= Single submitter
- c.45+8A>G No assertion criteria CDH13-related disorder
- c.484-36483del No assertion criteria CDH13-related disorder
- c.781+4T>A No assertion criteria CDH13-related disorder
- p.Asn420= No assertion criteria CDH13-related disorder
- p.Asp577= No assertion criteria CDH13-related disorder
- p.Gly261= No assertion criteria CDH13-related disorder
- p.Ile301= No assertion criteria CDH13-related disorder
- p.Pro228= No assertion criteria CDH13-related disorder
- p.Pro583= No assertion criteria CDH13-related disorder
- p.Val159= No assertion criteria CDH13-related disorder
- p.Val372= No assertion criteria CDH13-related disorder
Uncertain significance 124
- p.Ala209Thr Single submitter ⚠
- p.Ala315Val Single submitter ⚠
- p.Ala537Val Single submitter ⚠
- p.Ala692Val Single submitter ⚠
- p.Ala694Thr Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Arg170Lys Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg201Gln Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg676Thr Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn285Ile Single submitter ⚠
- p.Asn416Lys Single submitter ⚠
- p.Asn472Ser Single submitter ⚠
- p.Asn530Ser Single submitter ⚠
- p.Asn548Tyr Single submitter ⚠
- p.Asn61Ser Single submitter ⚠
- p.Asn651Ser Single submitter ⚠
- p.Asn76Lys Single submitter ⚠
- p.Asp116His Single submitter ⚠
- p.Asp123Gly Single submitter ⚠
- p.Asp158Tyr Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Asp274Asn Single submitter ⚠
- p.Asp292Glu Single submitter ⚠
- p.Asp470Val Single submitter ⚠
- p.Asp547Asn Single submitter ⚠
- p.Asp594Gly Single submitter ⚠
- p.Asp78Val Single submitter ⚠
- p.Gln136Lys Single submitter ⚠
- p.Gln212Glu Single submitter ⚠
- p.Gln288Arg Single submitter ⚠
- p.Gln289Ter Single submitter
- p.Gln678His Single submitter ⚠
- p.Glu216Asp Single submitter ⚠
- p.Glu373Lys Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Gly378Ala Single submitter ⚠
- p.Gly693Arg Single submitter ⚠
- p.His37Arg Single submitter ⚠
- p.His37Asn Single submitter ⚠
- p.His623Asp Single submitter ⚠
- p.His623Gln Single submitter ⚠
- p.Ile234Val Single submitter ⚠
- p.Ile236Val Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile45Thr Single submitter ⚠
- p.Ile585Val Single submitter CDH13-related disorder ⚠
- p.Ile87Leu Single submitter ⚠
- p.Leu121Ser Single submitter ⚠
- p.Leu213Val Single submitter ⚠
- p.Leu282Pro Single submitter ⚠
- p.Leu424Val Single submitter ⚠
- p.Leu430Ser Single submitter ⚠
- p.Leu440Val Single submitter ⚠
- p.Leu51Val Single submitter ⚠
- p.Leu84Pro Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys161Arg Single submitter ⚠
- p.Lys161Met Single submitter ⚠
- p.Lys172Thr Single submitter ⚠
- p.Lys624Arg Single submitter ⚠
- p.Lys666Arg Single submitter ⚠
- p.Met255Thr Single submitter ⚠
- p.Met483Val Single submitter ⚠
- p.Phe363Val Single submitter ⚠
- p.Phe95Leu Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro154Ser Single submitter ⚠
- p.Pro168Ser Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Pro417Arg Single submitter ⚠
- p.Pro452Ser Single submitter ⚠
- p.Pro458Thr Single submitter ⚠
- p.Pro481Arg Single submitter ⚠
- p.Pro481His Single submitter ⚠
- p.Pro481Thr Single submitter ⚠
- p.Pro563Leu Single submitter ⚠
- p.Pro617Thr Single submitter ⚠
- p.Pro658His Single submitter ⚠
- p.Pro667Leu Single submitter ⚠
- p.Pro700Ala Single submitter ⚠
- p.Ser131Phe Single submitter ⚠
- p.Ser196Arg Single submitter ⚠
- p.Ser196Ile Single submitter ⚠
- p.Ser21Pro Single submitter ⚠
- p.Ser258Thr Single submitter ⚠
- p.Ser455Phe Single submitter ⚠
- p.Ser600Ile Single submitter ⚠
- p.Ser645Asn Single submitter ⚠
- p.Ser681Phe Single submitter ⚠
- p.Ser698Arg Single submitter ⚠
- p.Ser698Asn Single submitter ⚠
- p.Ser69Trp Single submitter ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr268Ile Single submitter ⚠
- p.Thr290Lys Single submitter ⚠
- p.Thr290Met Single submitter ⚠
- p.Thr344Ala Single submitter ⚠
- p.Thr346Met Single submitter ⚠
- p.Thr502Met Single submitter ⚠
- p.Thr588Arg Single submitter ⚠
- p.Thr588Lys Single submitter ⚠
- p.Thr670Met Single submitter ⚠
- p.Thr93fs Single submitter CDH13-related disorder
- p.Thr93Ser Single submitter ⚠
- p.Val159Ala Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val197Ile Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val254Ile Single submitter ⚠
- p.Val341Ala Single submitter ⚠
- p.Val385Ile Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val495Met Single submitter ⚠
- p.Val550Met Single submitter ⚠
- p.Val578Leu Single submitter ⚠
- p.Val96Phe Single submitter ⚠
- p.Lys293Gln No assertion criteria CDH13-related disorder ⚠
- p.Thr568Ser No assertion criteria ⚠