CDH5 — 150 ClinVar variants

All ClinVar germline CDH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

1 Conflicting · 1 Benign · 11 Likely benign · 137 Uncertain significance

Full CDH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CDH5 p.Gln289His Conflicting Single submitter

Predictors lean, ClinVar uncertain 72

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

Predictors split 67

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

All CDH5 variants

Conflicting classifications of pathogenicity 1

p.Gln289His Single submitter ⚠

Benign 1

p.Val266= Multiple submitters

Likely benign 11

p.Ala13Thr Single submitter
p.Ala313Thr Single submitter
p.Arg510Gln Single submitter
p.Asn519Ser Single submitter
p.Asp96Asn Single submitter ⚠
p.Glu98Asp Single submitter
p.Ile209Val Single submitter
p.Leu8= Single submitter
p.Ser11Leu Single submitter
p.Ser569Asn Single submitter
p.Val277Leu Single submitter ⚠

Uncertain significance 137

p.Ala13Ser Single submitter ⚠
p.Ala187Val Single submitter ⚠
p.Ala201Ser Single submitter ⚠
p.Ala21Thr Single submitter ⚠
p.Ala229Val Single submitter ⚠
p.Ala353Val Single submitter ⚠
p.Ala395Thr Single submitter ⚠
p.Ala603Pro Single submitter ⚠
p.Ala628Val Single submitter ⚠
p.Ala630Thr Single submitter ⚠
p.Ala630Val Single submitter ⚠
p.Ala695Val Single submitter ⚠
p.Ala9Thr Single submitter ⚠
p.Arg154Trp Single submitter ⚠
p.Arg207His Single submitter ⚠
p.Arg236Trp Single submitter ⚠
p.Arg272His Single submitter ⚠
p.Arg291Trp Single submitter ⚠
p.Arg299Pro Single submitter ⚠
p.Arg33Gln Single submitter ⚠
p.Arg347Gln Single submitter ⚠
p.Arg420Gln Single submitter ⚠
p.Arg43Gly Single submitter ⚠
p.Arg43Trp Single submitter ⚠
p.Arg44His Single submitter ⚠
p.Arg565Cys Single submitter ⚠
p.Arg621Trp Single submitter ⚠
p.Arg622Gln Single submitter ⚠
p.Arg622Trp Single submitter ⚠
p.Arg623Trp Single submitter ⚠
p.Arg625Gln Single submitter ⚠
p.Arg625Trp Single submitter ⚠
p.Arg667His Single submitter ⚠
p.Arg681Gln Single submitter ⚠
p.Arg779Leu Single submitter ⚠
p.Arg779Trp Single submitter ⚠
p.Arg77Cys Single submitter ⚠
p.Arg94Gln Single submitter ⚠
p.Arg94Trp Single submitter ⚠
p.Asn147Ile Single submitter ⚠
p.Asp34Asn Single submitter ⚠
p.Asp57Val Single submitter ⚠
p.Asp714His Single submitter ⚠
p.Asp726Asn Single submitter ⚠
p.Asp749Asn Single submitter ⚠
p.Asp758Val Single submitter ⚠
p.Asp762Asn Single submitter ⚠
p.Gln233Arg Single submitter ⚠
p.Gln627Leu Single submitter ⚠
p.Gln687Arg Single submitter ⚠
p.Glu129Gln Single submitter ⚠
p.Glu309Gly Single submitter ⚠
p.Glu338Asp Single submitter ⚠
p.Glu580Lys Single submitter ⚠
p.Glu583Lys Single submitter ⚠
p.Glu710Asp Single submitter ⚠
p.Gly196Glu Single submitter ⚠
p.Gly458Arg Single submitter ⚠
p.Gly632Cys Single submitter ⚠
p.Gly632Ser Single submitter ⚠
p.Gly669Asp Single submitter ⚠
p.Gly670Arg Single submitter ⚠
p.Gly775Ser Single submitter ⚠
p.His117Gln Single submitter ⚠
p.His153Arg Single submitter ⚠
p.His314Gln Single submitter ⚠
p.His378Tyr Single submitter ⚠
p.His551Arg Single submitter ⚠
p.His631Gln Single submitter ⚠
p.Ile105Asn Single submitter ⚠
p.Ile105Thr Single submitter ⚠
p.Ile363Met Single submitter ⚠
p.Ile462Thr Single submitter ⚠
p.Ile467Val Single submitter ⚠
p.Ile536Val Single submitter ⚠
p.Ile56Leu Single submitter ⚠
p.Ile604Val Single submitter ⚠
p.Ile614Met Single submitter ⚠
p.Ile730Thr Single submitter ⚠
p.Leu18Val Single submitter ⚠
p.Leu4Val Single submitter ⚠
p.Leu684Phe Single submitter ⚠
p.Leu770Val Single submitter ⚠
p.Lys386Met Single submitter ⚠
p.Lys505Arg Single submitter ⚠
p.Met190Thr Single submitter ⚠
p.Met292Arg Single submitter ⚠
p.Met322Ile Single submitter ⚠
p.Met769Val Single submitter ⚠
p.Phe103Leu Single submitter ⚠
p.Phe543Tyr Single submitter ⚠
p.Pro30Ser Single submitter ⚠
p.Pro351Thr Single submitter ⚠
p.Pro369Ser Single submitter ⚠
p.Pro439Leu Single submitter ⚠
p.Pro456Ser Single submitter ⚠
p.Pro636Arg Single submitter ⚠
p.Pro636Thr Single submitter ⚠
p.Pro676Arg Single submitter ⚠
p.Pro682Ser Single submitter ⚠
p.Pro691Ala Single submitter ⚠
p.Pro724Leu Single submitter ⚠
p.Pro778Thr Single submitter ⚠
p.Ser159Pro Single submitter ⚠
p.Ser350Cys Single submitter ⚠
p.Ser461Tyr Single submitter ⚠
p.Ser564Asn Single submitter ⚠
p.Thr168Asn Single submitter ⚠
p.Thr212Met Single submitter ⚠
p.Thr444Ile Single submitter ⚠
p.Thr455Pro Single submitter ⚠
p.Thr455Ser Single submitter ⚠
p.Thr566Ala Single submitter ⚠
p.Thr566Met Single submitter ⚠
p.Thr570Met Single submitter ⚠
p.Thr62Ile Single submitter ⚠
p.Trp763Arg Single submitter ⚠
p.Tyr540Cys Single submitter ⚠
p.Tyr757Cys Single submitter ⚠
p.Val144Met Single submitter ⚠
p.Val160Met Single submitter ⚠
p.Val166Leu Single submitter ⚠
p.Val226Leu Single submitter ⚠
p.Val244Met Single submitter ⚠
p.Val267Met Single submitter ⚠
p.Val277Ala Single submitter ⚠
p.Val337Leu Single submitter ⚠
p.Val555Met Single submitter ⚠
p.Val573Met Single submitter ⚠
p.Val575Leu Single submitter ⚠
p.Val596Met Single submitter ⚠
p.Val662Ala Single submitter ⚠
p.Val688Ala Single submitter ⚠
p.Val68Ile Single submitter ⚠
p.Val89Met Single submitter Marfanoid habitus and intellectual disability ⚠
p.Val92Ile Single submitter ⚠
p.Thr537Ile No assertion criteria CDH5-related condition ⚠