CDH19 — 129 ClinVar variants
All ClinVar germline CDH19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
10 Benign · 10 Likely benign · 109 Uncertain significance
Full CDH19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDH19 p.Ala352Val Uncertain significance Single submitter
- CDH19 p.Arg430Cys Uncertain significance Single submitter
- CDH19 p.Arg621Gln Uncertain significance Single submitter
- CDH19 p.Arg671Gly Uncertain significance Single submitter
- CDH19 p.Arg683Gly Uncertain significance Single submitter
- CDH19 p.Arg696Lys Uncertain significance Single submitter
- CDH19 p.Arg8Cys Uncertain significance Single submitter
- CDH19 p.Asn142Ser Uncertain significance Single submitter
- CDH19 p.Asn338Ile Uncertain significance Single submitter
- CDH19 p.Asn48Lys Uncertain significance Single submitter
- CDH19 p.Asn515Tyr Uncertain significance Single submitter
- CDH19 p.Asn72Ser Uncertain significance Single submitter
- CDH19 p.Asp284Asn Uncertain significance Single submitter
- CDH19 p.Cys573Tyr Uncertain significance Single submitter
- CDH19 p.Gln360His Uncertain significance Single submitter
- CDH19 p.Gln459Arg Uncertain significance Single submitter
- CDH19 p.Gln486Arg Uncertain significance Single submitter
- CDH19 p.Gln580Arg Uncertain significance Single submitter
- CDH19 p.Gln624Lys Uncertain significance Single submitter
- CDH19 p.Gln78Lys Uncertain significance Single submitter
- CDH19 p.Glu258Lys Uncertain significance Single submitter
- CDH19 p.Glu343Gln Uncertain significance Single submitter
- CDH19 p.Gly754Arg Uncertain significance Single submitter
- CDH19 p.His309Gln Uncertain significance Single submitter
- CDH19 p.His339Pro Uncertain significance Single submitter
- CDH19 p.Ile357Thr Uncertain significance Single submitter
- CDH19 p.Leu243Phe Uncertain significance Single submitter
- CDH19 p.Leu372Phe Uncertain significance Single submitter
- CDH19 p.Leu560Pro Uncertain significance Single submitter
- CDH19 p.Lys630Thr Uncertain significance Single submitter
- CDH19 p.Met229Leu Uncertain significance Single submitter
- CDH19 p.Met346Ile Uncertain significance Single submitter
- CDH19 p.Met346Thr Uncertain significance Single submitter
- CDH19 p.Met591Val Uncertain significance Single submitter
- CDH19 p.Phe134Ile Uncertain significance Single submitter
- CDH19 p.Phe695Val Uncertain significance Single submitter
- CDH19 p.Pro14Thr Uncertain significance Single submitter
- CDH19 p.Pro233Ser Uncertain significance Single submitter
- CDH19 p.Ser111Pro Uncertain significance Single submitter
- CDH19 p.Ser662Gly Uncertain significance Single submitter
- CDH19 p.Ser88Asn Uncertain significance Single submitter
- CDH19 p.Ser88Thr Uncertain significance Single submitter
- CDH19 p.Thr271Ser Uncertain significance Single submitter
- CDH19 p.Tyr682Phe Uncertain significance Single submitter
- CDH19 p.Val138Ala Uncertain significance Single submitter
- CDH19 p.Val688Ile Uncertain significance Single submitter
-
CDH19 p.Leu318Phe
Uncertain significance
No assertion criteria
CDH19-related disorder
Predictors split 67
The independent predictors disagree with each other — read with care.
- CDH19 p.Ala155Ser Uncertain significance Single submitter
- CDH19 p.Ala235Val Uncertain significance Single submitter
- CDH19 p.Ala467Val Uncertain significance Single submitter
- CDH19 p.Ala600Ser Uncertain significance Single submitter
- CDH19 p.Arg185Cys Uncertain significance Single submitter
- CDH19 p.Arg185His Uncertain significance Single submitter
- CDH19 p.Arg621Trp Uncertain significance Single submitter
- CDH19 p.Asn308His Uncertain significance Single submitter
- CDH19 p.Asn447Ser Uncertain significance Single submitter
- CDH19 p.Asn447Tyr Uncertain significance Single submitter
- CDH19 p.Asn534Ser Uncertain significance Single submitter
- CDH19 p.Asn637Asp Uncertain significance Single submitter
- CDH19 p.Asp150Val Uncertain significance Single submitter
- CDH19 p.Asp465Asn Uncertain significance Single submitter
- CDH19 p.Asp643Asn Uncertain significance Single submitter
- CDH19 p.Asp71Glu Uncertain significance Single submitter
- CDH19 p.Gln118Arg Uncertain significance Single submitter
- CDH19 p.Gln118Lys Uncertain significance Single submitter
- CDH19 p.Gln192Glu Uncertain significance Single submitter
- CDH19 p.Gln312Arg Uncertain significance Single submitter
- CDH19 p.Gln327His Uncertain significance Single submitter
- CDH19 p.Gln743Arg Uncertain significance Single submitter
- CDH19 p.Gln78His Uncertain significance Single submitter
- CDH19 p.Glu343Gly Uncertain significance Single submitter
- CDH19 p.Glu378Ala Uncertain significance Single submitter
- CDH19 p.Glu752Lys Uncertain significance Single submitter
- CDH19 p.Gly193Ser Uncertain significance Single submitter
- CDH19 p.Gly238Val Uncertain significance Single submitter
- CDH19 p.Gly592Ala Uncertain significance Single submitter
- CDH19 p.Gly765Ala Uncertain significance Single submitter
- CDH19 p.His326Pro Likely benign Single submitter
- CDH19 p.Ile275Leu Uncertain significance Single submitter
- CDH19 p.Ile359Phe Uncertain significance Single submitter
- CDH19 p.Ile601Met Uncertain significance Single submitter
- CDH19 p.Leu191Pro Uncertain significance Single submitter
- CDH19 p.Leu566Phe Uncertain significance Single submitter
- CDH19 p.Leu602Val Uncertain significance Single submitter
- CDH19 p.Leu618Phe Uncertain significance Single submitter
- CDH19 p.Leu736Ser Uncertain significance Single submitter
- CDH19 p.Lys245Glu Uncertain significance Single submitter
- CDH19 p.Met160Ile Uncertain significance Single submitter
- CDH19 p.Met212Ile Uncertain significance Single submitter
- CDH19 p.Pro130Leu Uncertain significance Single submitter
- CDH19 p.Pro130Thr Uncertain significance Single submitter
- CDH19 p.Pro544Leu Uncertain significance Single submitter
- CDH19 p.Ser274Cys Uncertain significance Single submitter
- CDH19 p.Ser274Tyr Uncertain significance Single submitter
- CDH19 p.Ser353Phe Uncertain significance Single submitter
- CDH19 p.Ser402Cys Uncertain significance Single submitter
- CDH19 p.Ser411Asn Uncertain significance Single submitter
- CDH19 p.Ser453Leu Uncertain significance Single submitter
- CDH19 p.Ser499Phe Uncertain significance Single submitter
- CDH19 p.Thr124Ala Uncertain significance Single submitter
- CDH19 p.Thr171Ala Uncertain significance Single submitter
- CDH19 p.Thr311Ser Uncertain significance Single submitter
- CDH19 p.Trp47Cys Uncertain significance Single submitter
- CDH19 p.Tyr196Cys Uncertain significance Single submitter
- CDH19 p.Tyr281Cys Uncertain significance Single submitter
- CDH19 p.Tyr457Asn Uncertain significance Single submitter
- CDH19 p.Tyr721Cys Uncertain significance Single submitter
- CDH19 p.Val135Phe Uncertain significance Single submitter
- CDH19 p.Val322Met Uncertain significance Single submitter
-
CDH19 p.Ala653Asp
Benign
No assertion criteria
CDH19-related disorder
-
CDH19 p.Ala712Thr
Benign
No assertion criteria
CDH19-related disorder
-
CDH19 p.Gly646Ser
Likely benign
No assertion criteria
CDH19-related disorder
-
CDH19 p.Gly727Val
Benign
No assertion criteria
CDH19-related disorder
-
CDH19 p.Ile408Val
Likely benign
No assertion criteria
CDH19-related disorder
All CDH19 variants
Benign 10
- p.Pro558= Multiple submitters
- p.Thr89Ile Multiple submitters
- p.Ala653Asp No assertion criteria CDH19-related disorder ⚠
- p.Ala712Thr No assertion criteria CDH19-related disorder ⚠
- p.Asn25Asp No assertion criteria CDH19-related disorder
- p.Cys19Ser No assertion criteria CDH19-related disorder
- p.Gly727Val No assertion criteria CDH19-related disorder ⚠
- p.Tyr188= No assertion criteria CDH19-related disorder
- p.Val167= No assertion criteria CDH19-related disorder
- p.Val597= No assertion criteria CDH19-related disorder
Likely benign 10
- p.His326Pro Single submitter ⚠
- p.Lys253= Single submitter
- p.Thr383Ser Single submitter
- c.1214+8T>C No assertion criteria CDH19-related disorder
- c.490+10A>G No assertion criteria CDH19-related disorder
- p.Gln360Arg No assertion criteria CDH19-related disorder
- p.Glu151Gln No assertion criteria CDH19-related disorder
- p.Gly646Ser No assertion criteria CDH19-related disorder ⚠
- p.Ile408Val No assertion criteria CDH19-related disorder ⚠
- p.Met160Leu No assertion criteria CDH19-related disorder
Uncertain significance 109
- p.Ala155Ser Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala467Val Single submitter ⚠
- p.Ala600Ser Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg430Cys Single submitter ⚠
- p.Arg621Gln Single submitter ⚠
- p.Arg621Trp Single submitter ⚠
- p.Arg671Gly Single submitter ⚠
- p.Arg683Gly Single submitter ⚠
- p.Arg696Lys Single submitter ⚠
- p.Arg8Cys Single submitter ⚠
- p.Asn142Ser Single submitter ⚠
- p.Asn308His Single submitter ⚠
- p.Asn338Ile Single submitter ⚠
- p.Asn447Ser Single submitter ⚠
- p.Asn447Tyr Single submitter ⚠
- p.Asn48Lys Single submitter ⚠
- p.Asn515Tyr Single submitter ⚠
- p.Asn534Ser Single submitter ⚠
- p.Asn637Asp Single submitter ⚠
- p.Asn72Ser Single submitter ⚠
- p.Asp150Val Single submitter ⚠
- p.Asp284Asn Single submitter ⚠
- p.Asp465Asn Single submitter ⚠
- p.Asp643Asn Single submitter ⚠
- p.Asp71Glu Single submitter ⚠
- p.Cys573Tyr Single submitter ⚠
- p.Gln118Arg Single submitter ⚠
- p.Gln118Lys Single submitter ⚠
- p.Gln192Glu Single submitter ⚠
- p.Gln312Arg Single submitter ⚠
- p.Gln327His Single submitter ⚠
- p.Gln360His Single submitter ⚠
- p.Gln459Arg Single submitter ⚠
- p.Gln486Arg Single submitter ⚠
- p.Gln580Arg Single submitter ⚠
- p.Gln624Lys Single submitter ⚠
- p.Gln743Arg Single submitter ⚠
- p.Gln78His Single submitter ⚠
- p.Gln78Lys Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu343Gln Single submitter ⚠
- p.Glu343Gly Single submitter ⚠
- p.Glu378Ala Single submitter ⚠
- p.Glu752Lys Single submitter ⚠
- p.Gly193= Single submitter CDH19-related disorder
- p.Gly193Ser Single submitter ⚠
- p.Gly238Val Single submitter ⚠
- p.Gly592Ala Single submitter ⚠
- p.Gly754Arg Single submitter ⚠
- p.Gly765Ala Single submitter ⚠
- p.His309Gln Single submitter ⚠
- p.His339Pro Single submitter ⚠
- p.Ile275Leu Single submitter ⚠
- p.Ile357Thr Single submitter ⚠
- p.Ile359Phe Single submitter ⚠
- p.Ile601Met Single submitter ⚠
- p.Leu191Pro Single submitter ⚠
- p.Leu243Phe Single submitter ⚠
- p.Leu372Phe Single submitter ⚠
- p.Leu560Pro Single submitter ⚠
- p.Leu566Phe Single submitter ⚠
- p.Leu602Val Single submitter ⚠
- p.Leu618Phe Single submitter ⚠
- p.Leu736Ser Single submitter ⚠
- p.Lys245Glu Single submitter ⚠
- p.Lys630Thr Single submitter ⚠
- p.Met160Ile Single submitter ⚠
- p.Met212Ile Single submitter ⚠
- p.Met229Leu Single submitter ⚠
- p.Met346Ile Single submitter ⚠
- p.Met346Thr Single submitter ⚠
- p.Met591Val Single submitter ⚠
- p.Phe134Ile Single submitter ⚠
- p.Phe695Val Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro130Thr Single submitter ⚠
- p.Pro14Thr Single submitter ⚠
- p.Pro233Ser Single submitter ⚠
- p.Pro544Leu Single submitter ⚠
- p.Ser111Pro Single submitter ⚠
- p.Ser274Cys Single submitter ⚠
- p.Ser274Tyr Single submitter ⚠
- p.Ser353Phe Single submitter ⚠
- p.Ser402Cys Single submitter ⚠
- p.Ser411Asn Single submitter ⚠
- p.Ser453Leu Single submitter ⚠
- p.Ser499Phe Single submitter ⚠
- p.Ser662Gly Single submitter ⚠
- p.Ser88Asn Single submitter ⚠
- p.Ser88Thr Single submitter ⚠
- p.Thr124Ala Single submitter ⚠
- p.Thr171Ala Single submitter ⚠
- p.Thr271Ser Single submitter ⚠
- p.Thr311Ser Single submitter ⚠
- p.Trp47Cys Single submitter ⚠
- p.Tyr196Cys Single submitter ⚠
- p.Tyr281Cys Single submitter ⚠
- p.Tyr457Asn Single submitter ⚠
- p.Tyr682Phe Single submitter ⚠
- p.Tyr721Cys Single submitter ⚠
- p.Val135Phe Single submitter ⚠
- p.Val138Ala Single submitter ⚠
- p.Val322Met Single submitter ⚠
- p.Val688Ile Single submitter ⚠
- p.Leu318Phe No assertion criteria CDH19-related disorder ⚠