CDH8 — 86 ClinVar variants

All ClinVar germline CDH8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

2 Benign · 1 Benign/Likely benign · 7 Likely benign · 76 Uncertain significance

Full CDH8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 45

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

Predictors split 29

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

All CDH8 variants

Benign 2

p.Ile429= Multiple submitters
p.Ile637= Single submitter

Benign/Likely benign 1

p.Tyr667= Multiple submitters

Likely benign 7

p.Arg666Cys Multiple submitters
p.Arg4= Single submitter
p.Asp193= Single submitter
p.Glu501= Single submitter
p.Ile577Val Single submitter
p.Pro510= Single submitter
p.Ser408= Single submitter

Uncertain significance 76

p.Ala30Thr Single submitter ⚠
p.Ala332Thr Single submitter ⚠
p.Ala443Thr Single submitter ⚠
p.Ala502Gly Single submitter ⚠
p.Ala629Val Single submitter ⚠
p.Arg123Lys Single submitter ⚠
p.Arg338Lys Single submitter ⚠
p.Arg416Cys Single submitter ⚠
p.Arg416His Single submitter ⚠
p.Arg645Gln Single submitter ⚠
p.Arg666His Single submitter ⚠
p.Asn601Lys Single submitter ⚠
p.Asn609Lys Single submitter ⚠
p.Asp314Asn Single submitter ⚠
p.Asp363Glu Single submitter ⚠
p.Asp602Asn Single submitter ⚠
p.Gln771Arg Single submitter ⚠
p.Glu731Gly Single submitter ⚠
p.Glu7Gly Single submitter ⚠
p.Gly250Asp Single submitter ⚠
p.Gly296Glu Single submitter ⚠
p.Gly753Ala Single submitter ⚠
p.His282Gln Single submitter ⚠
p.His529Arg Single submitter ⚠
p.His730Asn Single submitter ⚠
p.Ile108Leu Single submitter ⚠
p.Ile224Val Single submitter ⚠
p.Ile305Val Single submitter ⚠
p.Ile316Val Single submitter ⚠
p.Ile362Thr Single submitter ⚠
p.Ile410Met Single submitter ⚠
p.Ile464Leu Single submitter ⚠
p.Ile578Ser Single submitter ⚠
p.Ile627Val Single submitter ⚠
p.Ile746Thr Single submitter ⚠
p.Leu10Val Single submitter ⚠
p.Leu12Val Single submitter ⚠
p.Leu23Phe Single submitter ⚠
p.Leu586Arg Single submitter ⚠
p.Lys275Glu Single submitter ⚠
p.Lys526Gln Single submitter ⚠
p.Lys548Asn Single submitter ⚠
p.Met249Arg Single submitter ⚠
p.Met29Val Single submitter ⚠
p.Pro197Thr Single submitter ⚠
p.Pro220Ala Single submitter ⚠
p.Pro220Thr Single submitter ⚠
p.Pro24Ser Single submitter ⚠
p.Pro286Leu Single submitter ⚠
p.Pro394Leu Single submitter ⚠
p.Pro43Arg Single submitter ⚠
p.Pro739Leu Single submitter ⚠
p.Pro77Arg Single submitter ⚠
p.Ser144Gly Single submitter ⚠
p.Ser279Arg Single submitter ⚠
p.Ser311Leu Single submitter ⚠
p.Ser428Cys Single submitter ⚠
p.Ser428Tyr Single submitter ⚠
p.Ser600Asn Single submitter ⚠
p.Ser769fs Single submitter
p.Ser777Asn Single submitter ⚠
p.Thr133Ile Single submitter ⚠
p.Thr187Ala Single submitter ⚠
p.Thr190Pro Single submitter ⚠
p.Thr227Ile Single submitter ⚠
p.Thr293Ala Single submitter ⚠
p.Thr377Ile Single submitter ⚠
p.Thr737Met Single submitter ⚠
p.Tyr741Cys Single submitter ⚠
p.Val37Ala Single submitter ⚠
p.Val381Met Single submitter ⚠
p.Val460Leu Single submitter ⚠
p.Val482Ala Single submitter ⚠
p.Val614Ile Single submitter ⚠
p.Val638Ala Single submitter ⚠
p.Glu798fs No assertion criteria