CDHR3 — 152 ClinVar variants

All ClinVar germline CDHR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

1 Conflicting · 2 Benign · 1 Benign/Likely benign · 24 Likely benign · 124 Uncertain significance

Full CDHR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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.

CDHR3 p.Leu506Phe Conflicting Single submitter

Predictors lean, ClinVar uncertain 67

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

Predictors split 64

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

All CDHR3 variants

Conflicting classifications of pathogenicity 1

p.Leu506Phe Single submitter ⚠

Benign 2

p.Asp337= Multiple submitters
p.Gln399= Multiple submitters

Benign/Likely benign 1

c.1653+3G>A Multiple submitters

Likely benign 24

p.Arg603Cys Multiple submitters ⚠
c.2272+4T>G Single submitter
p.Ala476Thr Single submitter ⚠
p.Ala798Ser Single submitter ⚠
p.Arg166Gln Single submitter
p.Arg235His Single submitter ⚠
p.Arg328His Single submitter ⚠
p.Arg484Gln Single submitter
p.Arg603His Single submitter ⚠
p.Arg822Cys Single submitter ⚠
p.Asn444= Single submitter
p.Gly394Ser Single submitter
p.Ser213= Single submitter
p.Thr28Ile Single submitter ⚠
p.Thr291Ala Single submitter
p.Thr759Met Single submitter
p.Tyr415= Single submitter
p.Tyr878Ser Single submitter
p.Val118Ile Single submitter
p.Val445Ile Single submitter
p.Val447Ile Single submitter
p.Val611Ile Single submitter
p.Val699Ile Single submitter
p.Val732Ile Single submitter

Uncertain significance 124

p.Ala148Ser Single submitter ⚠
p.Ala158Asp Single submitter ⚠
p.Ala541Asp Single submitter ⚠
p.Ala541Val Single submitter ⚠
p.Ala820Val Single submitter ⚠
p.Ala852Thr Single submitter ⚠
p.Ala872Asp Single submitter ⚠
p.Arg235Cys Single submitter ⚠
p.Arg328Cys Single submitter ⚠
p.Arg328Leu Single submitter ⚠
p.Arg328Ser Single submitter ⚠
p.Arg473Ile Single submitter ⚠
p.Arg479Gln Single submitter ⚠
p.Arg479Leu Single submitter ⚠
p.Arg600Ser Single submitter ⚠
p.Arg627Cys Single submitter ⚠
p.Arg627His Single submitter ⚠
p.Arg661Lys Single submitter ⚠
p.Asn225Asp Single submitter ⚠
p.Asn612Ser Single submitter ⚠
p.Asn620Thr Single submitter ⚠
p.Asp109Val Single submitter ⚠
p.Asp160Asn Single submitter ⚠
p.Asp231Asn Single submitter ⚠
p.Asp578Gly Single submitter ⚠
p.Asp594His Single submitter ⚠
p.Asp641Asn Single submitter ⚠
p.Asp851Glu Single submitter ⚠
p.Cys566Tyr Single submitter ⚠
p.Cys592Tyr Single submitter ⚠
p.Cys744Phe Single submitter ⚠
p.Gln223Lys Single submitter ⚠
p.Gln2Arg Single submitter ⚠
p.Gln482Leu Single submitter ⚠
p.Gln482Lys Single submitter ⚠
p.Gln772Arg Single submitter ⚠
p.Gln772His Single submitter ⚠
p.Glu70Asp Single submitter ⚠
p.Glu751Ala Single submitter ⚠
p.Glu850Lys Single submitter ⚠
p.Gly16Ala Single submitter ⚠
p.Gly17Arg Single submitter ⚠
p.Gly29Asp Single submitter ⚠
p.Gly390Glu Single submitter ⚠
p.Gly424Ser Single submitter ⚠
p.Gly503Arg Single submitter ⚠
p.Gly607Ser Single submitter ⚠
p.Gly639Arg Single submitter ⚠
p.Gly719Arg Single submitter ⚠
p.Gly779Ala Single submitter ⚠
p.His201Arg Single submitter ⚠
p.Ile100Val Single submitter ⚠
p.Ile105Val Single submitter ⚠
p.Ile410Thr Single submitter ⚠
p.Ile643Thr Single submitter ⚠
p.Ile686Met Single submitter ⚠
p.Ile6Thr Single submitter ⚠
p.Ile721Thr Single submitter ⚠
p.Leu142Ile Single submitter ⚠
p.Leu142Phe Single submitter ⚠
p.Leu521Phe Single submitter ⚠
p.Leu579Val Single submitter ⚠
p.Leu595Phe Single submitter ⚠
p.Lys347Asn Single submitter ⚠
p.Lys43Gln Single submitter ⚠
p.Lys846Glu Single submitter ⚠
p.Met808Leu Single submitter ⚠
p.Met808Lys Single submitter ⚠
p.Phe101Ser Single submitter ⚠
p.Phe457Cys Single submitter ⚠
p.Phe94Val Single submitter ⚠
p.Pro178Gln Single submitter ⚠
p.Pro234Ser Single submitter ⚠
p.Pro251Ser Single submitter ⚠
p.Pro355Ser Single submitter ⚠
p.Pro388Arg Single submitter ⚠
p.Pro439fs Single submitter
p.Pro439Thr Single submitter ⚠
p.Pro464Leu Single submitter ⚠
p.Pro564Ser Single submitter ⚠
p.Pro599Arg Single submitter ⚠
p.Pro67Leu Single submitter ⚠
p.Pro821Leu Single submitter ⚠
p.Pro883Arg Single submitter ⚠
p.Ser165Asn Single submitter ⚠
p.Ser213Arg Single submitter ⚠
p.Ser280Gly Single submitter ⚠
p.Ser605Thr Single submitter ⚠
p.Ser65Pro Single submitter ⚠
p.Ser708Cys Single submitter ⚠
p.Thr220Ala Single submitter ⚠
p.Thr253Asn Single submitter ⚠
p.Thr253Ile Single submitter ⚠
p.Thr525Ile Single submitter ⚠
p.Thr674Ala Single submitter ⚠
p.Thr685Ala Single submitter ⚠
p.Thr689Met Single submitter ⚠
p.Thr690Ile Single submitter ⚠
p.Thr770Ala Single submitter ⚠
p.Thr796Ile Single submitter ⚠
p.Thr806Asn Single submitter ⚠
p.Thr80Ser Single submitter ⚠
p.Thr86Ser Single submitter ⚠
p.Trp848Gly Single submitter ⚠
p.Tyr466Ser Single submitter ⚠
p.Tyr705Cys Single submitter ⚠
p.Tyr711Cys Single submitter ⚠
p.Val111Phe Single submitter ⚠
p.Val126Met Single submitter ⚠
p.Val208Met Single submitter ⚠
p.Val210Gly Single submitter ⚠
p.Val227Met Single submitter ⚠
p.Val255Gly Single submitter ⚠
p.Val279Ala Single submitter ⚠
p.Val429Met Single submitter ⚠
p.Val470Met Single submitter ⚠
p.Val650Phe Single submitter ⚠
p.Val679Asp Single submitter ⚠
p.Val715Ile Single submitter ⚠
p.Val728Met Single submitter ⚠
p.Val824Leu Single submitter ⚠
p.Pro355Leu No assertion criteria Susceptibility to nonsyndromic otitis media ⚠
p.Pro379Ser No assertion criteria Susceptibility to nonsyndromic otitis media ⚠
p.Tyr729His No assertion criteria Susceptibility to nonsyndromic otitis media ⚠