CDH3 — 799 ClinVar variants
All ClinVar germline CDH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 344 flagged for review →
30 Pathogenic · 2 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 36 Conflicting · 40 Benign · 9 Benign/Likely benign · 285 Likely benign · 377 Uncertain significance
Full CDH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 344
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CDH3 p.Arg503His
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CDH3 p.Ala662Thr
Conflicting
Single submitter
EEM syndrome
-
CDH3 p.Arg393Lys
Conflicting
Single submitter
EEM syndrome
-
CDH3 p.Met369Val
Conflicting
Single submitter
Inborn genetic diseases
-
CDH3 p.Thr37Ser
Conflicting
Single submitter
EEM syndrome
-
CDH3 p.Val603Ala
Conflicting
Single submitter
congenital hypotrichosis with juvenile macular dystrophy
Predictors lean, ClinVar uncertain 152
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 152
-
CDH3 p.Ala159Thr
Uncertain significance
Multiple submitters
congenital hypotrichosis with juvenile macular dystrophy
-
CDH3 p.Ala34Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Ala40Glu Uncertain significance Multiple submitters
-
CDH3 p.Ala64Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala724Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala749Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala799Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Arg137Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Arg695Cys Uncertain significance Multiple submitters
-
CDH3 p.Arg725Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Asp267Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Asp320Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Cys58Tyr Uncertain significance Multiple submitters
-
CDH3 p.Glu645Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Glu703Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Gly374Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Gly48Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Gly493Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Gly702Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ile567Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ile754Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Met269Thr
Uncertain significance
Multiple submitters
CDH3-related disorder
-
CDH3 p.Met56Val
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Met743Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Pro458Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ser98Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Thr248Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Thr278Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Thr365Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Thr528Ile Uncertain significance Multiple submitters
-
CDH3 p.Tyr713Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Val561Ala Uncertain significance Multiple submitters
- CDH3 p.Ala193Asp Uncertain significance Single submitter
- CDH3 p.Ala193Val Uncertain significance Single submitter
-
CDH3 p.Ala22Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Ala314Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Ala321Val Uncertain significance Single submitter
- CDH3 p.Ala34Val Uncertain significance Single submitter
- CDH3 p.Ala64Val Uncertain significance Single submitter
-
CDH3 p.Ala735Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Arg100His Uncertain significance Single submitter
-
CDH3 p.Arg348Lys
Uncertain significance
Single submitter
EEM syndrome
- CDH3 p.Arg634Ser Uncertain significance Single submitter
-
CDH3 p.Arg695Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Arg720Gln Uncertain significance Single submitter
- CDH3 p.Asn129His Uncertain significance Single submitter
- CDH3 p.Asn200Lys Uncertain significance Single submitter
- CDH3 p.Asn340Ile Uncertain significance Single submitter
-
CDH3 p.Asn386Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Asn761Asp Uncertain significance Single submitter
- CDH3 p.Asn77Ser Uncertain significance Single submitter
- CDH3 p.Asp174Asn Uncertain significance Single submitter
- CDH3 p.Asp197Gly Uncertain significance Single submitter
- CDH3 p.Asp466Glu Uncertain significance Single submitter
-
CDH3 p.Asp466Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Asp489Asn Uncertain significance Single submitter
- CDH3 p.Asp491Glu Uncertain significance Single submitter
- CDH3 p.Asp586Glu Uncertain significance Single submitter
- CDH3 p.Asp623Glu Uncertain significance Single submitter
- CDH3 p.Asp692Glu Uncertain significance Single submitter
- CDH3 p.Asp72Asn Uncertain significance Single submitter
- CDH3 p.Asp768Glu Uncertain significance Single submitter
- CDH3 p.Asp775Asn Uncertain significance Single submitter
- CDH3 p.Asp775Tyr Uncertain significance Single submitter
-
CDH3 p.Asp775Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Asp781Val Uncertain significance Single submitter
- CDH3 p.Asp788Glu Uncertain significance Single submitter
- CDH3 p.Cys556Gly Uncertain significance Single submitter
- CDH3 p.Gln15Arg Uncertain significance Single submitter
- CDH3 p.Gln20Arg Uncertain significance Single submitter
- CDH3 p.Gln299Arg Uncertain significance Single submitter
- CDH3 p.Gln450Arg Uncertain significance Single submitter
- CDH3 p.Gln49Arg Uncertain significance Single submitter
-
CDH3 p.Gln580His
Uncertain significance
Single submitter
EEM syndrome
- CDH3 p.Glu35Lys Uncertain significance Single submitter
- CDH3 p.Glu457Asp Uncertain significance Single submitter
- CDH3 p.Glu597Lys Uncertain significance Single submitter
- CDH3 p.Glu645Lys Uncertain significance Single submitter
-
CDH3 p.Glu783Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Glu79Lys
Uncertain significance
Single submitter
prostate cancer
- CDH3 p.Gly149Glu Uncertain significance Single submitter
- CDH3 p.Gly165Ser Uncertain significance Single submitter
-
CDH3 p.Gly231Arg
Uncertain significance
Single submitter
EEM syndrome
-
CDH3 p.Gly2Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Gly305Glu Uncertain significance Single submitter
- CDH3 p.Gly374Arg Uncertain significance Single submitter
- CDH3 p.Gly374Glu Uncertain significance Single submitter
- CDH3 p.Gly395Ser Uncertain significance Single submitter
- CDH3 p.Gly42Asp Uncertain significance Single submitter
- CDH3 p.Gly452Asp Uncertain significance Single submitter
- CDH3 p.Gly530Asp Uncertain significance Single submitter
- CDH3 p.Gly545Val Uncertain significance Single submitter
- CDH3 p.Gly60Arg Uncertain significance Single submitter
-
CDH3 p.Gly653Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Gly654Asp Uncertain significance Single submitter
-
CDH3 p.Gly6Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Gly705Ala Uncertain significance Single submitter
- CDH3 p.Gly755Val Uncertain significance Single submitter
- CDH3 p.Gly78Val Uncertain significance Single submitter
- CDH3 p.His624Arg Uncertain significance Single submitter
- CDH3 p.Ile145Thr Uncertain significance Single submitter
- CDH3 p.Ile389Val Uncertain significance Single submitter
- CDH3 p.Ile589Phe Uncertain significance Single submitter
- CDH3 p.Ile739Phe Uncertain significance Single submitter
- CDH3 p.Ile95Val Uncertain significance Single submitter
-
CDH3 p.Leu167Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Leu486Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Leu730Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Leu777Phe Uncertain significance Single submitter
- CDH3 p.Lys53Arg Uncertain significance Single submitter
- CDH3 p.Met269Ile Uncertain significance Single submitter
- CDH3 p.Met327Thr Uncertain significance Single submitter
- CDH3 p.Met488Val Uncertain significance Single submitter
- CDH3 p.Met517Ile Uncertain significance Single submitter
- CDH3 p.Met521Val Uncertain significance Single submitter
- CDH3 p.Met743Thr Uncertain significance Single submitter
- CDH3 p.Phe270Cys Uncertain significance Single submitter
-
CDH3 p.Phe440Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Pro154Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Pro262Leu Uncertain significance Single submitter
-
CDH3 p.Pro26Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Pro26Leu Uncertain significance Single submitter
- CDH3 p.Pro458Ala Uncertain significance Single submitter
- CDH3 p.Pro458Ser Uncertain significance Single submitter
- CDH3 p.Pro47Thr Uncertain significance Single submitter
- CDH3 p.Pro746Ser Uncertain significance Single submitter
-
CDH3 p.Ser10Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Ser152Arg Uncertain significance Single submitter
- CDH3 p.Ser275Ile Uncertain significance Single submitter
- CDH3 p.Ser308Phe Uncertain significance Single submitter
- CDH3 p.Ser475Arg Uncertain significance Single submitter
- CDH3 p.Ser577Phe Uncertain significance Single submitter
- CDH3 p.Ser793Arg Uncertain significance Single submitter
- CDH3 p.Ser814Asn Uncertain significance Single submitter
- CDH3 p.Thr219Ile Uncertain significance Single submitter
- CDH3 p.Thr219Ser Uncertain significance Single submitter
- CDH3 p.Thr405Ile Uncertain significance Single submitter
- CDH3 p.Thr528Ser Uncertain significance Single submitter
- CDH3 p.Thr537Ala Uncertain significance Single submitter
- CDH3 p.Thr537Ser Uncertain significance Single submitter
-
CDH3 p.Thr737Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Thr796Ala Uncertain significance Single submitter
-
CDH3 p.Trp591Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Tyr744His Uncertain significance Single submitter
- CDH3 p.Tyr774Asp Uncertain significance Single submitter
- CDH3 p.Val160Ile Uncertain significance Single submitter
- CDH3 p.Val410Ala Uncertain significance Single submitter
-
CDH3 p.Val441Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Val495Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Val734Met
Uncertain significance
Single submitter
retinitis pigmentosa
Predictors split 186
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 186
-
CDH3 p.Ala150Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala22Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala356Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala361Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala361Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ala400Gly
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Ala414Thr
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Ala789Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Arg221Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Arg274Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Arg274Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Arg363Cys
Benign/Likely benign
Multiple submitters
EEM syndrome
-
CDH3 p.Arg551Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Arg551His
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Arg745Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Asp218His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Asp781Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Asp788Asn
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Asp807Asn
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Asp807Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Gln563His
Benign
Multiple submitters
EEM syndrome
-
CDH3 p.Gln802Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Glu334Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Glu413Ala Uncertain significance Multiple submitters
-
CDH3 p.Gly285Val
Uncertain significance
Multiple submitters
EEM syndrome
-
CDH3 p.Gly371Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.His382Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Ile513Phe Uncertain significance Multiple submitters
- CDH3 p.Ile553Asn Uncertain significance Multiple submitters
-
CDH3 p.Leu12Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Lys684Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Met269Leu
Benign/Likely benign
Multiple submitters
EEM syndrome
-
CDH3 p.Pro383Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Pro550Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Pro550Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Pro726Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Pro769Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Pro772Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ser385Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Ser492Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Thr311Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDH3 p.Thr424Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Trp18Arg Uncertain significance Multiple submitters
-
CDH3 p.Val408Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDH3 p.Ala187Ser Uncertain significance Single submitter
- CDH3 p.Ala254Thr Uncertain significance Single submitter
- CDH3 p.Ala464Val Uncertain significance Single submitter
-
CDH3 p.Ala789Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- CDH3 p.Ala790Pro Uncertain significance Single submitter
- CDH3 p.Ala790Thr Uncertain significance Single submitter
- CDH3 p.Ala820Thr Uncertain significance Single submitter
- CDH3 p.Arg100Cys Uncertain significance Single submitter
- CDH3 p.Arg100Leu Uncertain significance Single submitter
- CDH3 p.Arg103Gln Uncertain significance Single submitter
- CDH3 p.Arg175Trp Uncertain significance Single submitter
- CDH3 p.Arg288Gln Uncertain significance Single submitter
- CDH3 p.Arg288Trp Uncertain significance Single submitter
- CDH3 p.Arg477Cys Uncertain significance Single submitter
-
CDH3 p.Arg503Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CDH3 p.Arg562Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Arg5Cys Uncertain significance Single submitter
- CDH3 p.Arg5His Uncertain significance Single submitter
-
CDH3 p.Arg681Gln
Conflicting
Single submitter
EEM syndrome
-
CDH3 p.Arg681Trp
Uncertain significance
Single submitter
inherited retinal dystrophy
- CDH3 p.Arg695His Uncertain significance Single submitter
-
CDH3 p.Arg731Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- CDH3 p.Arg731His Uncertain significance Single submitter
- CDH3 p.Arg731Leu Uncertain significance Single submitter
- CDH3 p.Arg745His Uncertain significance Single submitter
-
CDH3 p.Arg747Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- CDH3 p.Arg747Leu Uncertain significance Single submitter
- CDH3 p.Arg747Trp Uncertain significance Single submitter
- CDH3 p.Arg76Trp Uncertain significance Single submitter
- CDH3 p.Arg815Cys Uncertain significance Single submitter
-
CDH3 p.Arg815His
Uncertain significance
Single submitter
EEM syndrome
- CDH3 p.Asn322Ser Uncertain significance Single submitter
- CDH3 p.Asn324Ser Uncertain significance Single submitter
- CDH3 p.Asn542Asp Uncertain significance Single submitter
- CDH3 p.Asn91Tyr Uncertain significance Single submitter
- CDH3 p.Asp108His Uncertain significance Single submitter
-
CDH3 p.Asp373Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CDH3 p.Asp373Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Asp502Asn Uncertain significance Single submitter
- CDH3 p.Asp696Asn Uncertain significance Single submitter
- CDH3 p.Asp801Asn Uncertain significance Single submitter
- CDH3 p.Asp803Asn Uncertain significance Single submitter
- CDH3 p.Asp807Glu Uncertain significance Single submitter
- CDH3 p.Asp821His Uncertain significance Single submitter
- CDH3 p.Asp829Asn Uncertain significance Single submitter
- CDH3 p.Asp829Gly Uncertain significance Single submitter
-
CDH3 p.Gln217His
Uncertain significance
Single submitter
EEM syndrome
- CDH3 p.Gln347His Uncertain significance Single submitter
-
CDH3 p.Gln711Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Gln802Arg Uncertain significance Single submitter
- CDH3 p.Glu345Lys Uncertain significance Single submitter
- CDH3 p.Glu413Lys Uncertain significance Single submitter
- CDH3 p.Glu457Gly Uncertain significance Single submitter
-
CDH3 p.Glu594Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Glu645Gly Uncertain significance Single submitter
- CDH3 p.Glu685Gly Uncertain significance Single submitter
- CDH3 p.Glu811Lys Uncertain significance Single submitter
- CDH3 p.Gly307Ala Uncertain significance Single submitter
- CDH3 p.Gly371Arg Uncertain significance Single submitter
- CDH3 p.Gly524Glu Uncertain significance Single submitter
- CDH3 p.Gly599Cys Uncertain significance Single submitter
- CDH3 p.Gly755Ser Uncertain significance Single submitter
-
CDH3 p.Gly786Ser
Conflicting
Single submitter
EEM syndrome
- CDH3 p.Gly826Arg Uncertain significance Single submitter
- CDH3 p.His211Gln Uncertain significance Single submitter
- CDH3 p.His258Asn Uncertain significance Single submitter
- CDH3 p.His404Arg Uncertain significance Single submitter
-
CDH3 p.His544Gln
Uncertain significance
Single submitter
EEM syndrome
- CDH3 p.His575Arg Uncertain significance Single submitter
- CDH3 p.His719Tyr Uncertain significance Single submitter
- CDH3 p.Ile114Val Uncertain significance Single submitter
- CDH3 p.Ile178Val Uncertain significance Single submitter
-
CDH3 p.Ile427Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Leu168Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Leu296Val
Uncertain significance
Single submitter
EEM syndrome
- CDH3 p.Leu319Pro Uncertain significance Single submitter
-
CDH3 p.Leu479Pro
Conflicting
Single submitter
inherited retinal dystrophy
- CDH3 p.Leu572Arg Uncertain significance Single submitter
- CDH3 p.Leu604Val Uncertain significance Single submitter
- CDH3 p.Leu675Trp Uncertain significance Single submitter
- CDH3 p.Leu687Val Uncertain significance Single submitter
- CDH3 p.Leu722Pro Uncertain significance Single submitter
-
CDH3 p.Leu762Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Lys140Asn Uncertain significance Single submitter
-
CDH3 p.Lys180Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Lys212Asn Uncertain significance Single submitter
- CDH3 p.Lys212Glu Uncertain significance Single submitter
- CDH3 p.Lys473Asn Uncertain significance Single submitter
- CDH3 p.Lys570Asn Uncertain significance Single submitter
-
CDH3 p.Met303Ile
Conflicting
Single submitter
EEM syndrome
- CDH3 p.Phe398Ser Uncertain significance Single submitter
-
CDH3 p.Phe609Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Pro117Thr Uncertain significance Single submitter
- CDH3 p.Pro153Leu Uncertain significance Single submitter
- CDH3 p.Pro330His Uncertain significance Single submitter
-
CDH3 p.Pro330Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Pro330Thr Uncertain significance Single submitter
- CDH3 p.Pro548Ser Uncertain significance Single submitter
-
CDH3 p.Pro578Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Pro740Ala Uncertain significance Single submitter
- CDH3 p.Pro740Leu Uncertain significance Single submitter
-
CDH3 p.Pro751Thr
Uncertain significance
Single submitter
EEM syndrome
-
CDH3 p.Pro769Thr
Uncertain significance
Single submitter
EEM syndrome
-
CDH3 p.Ser223Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDH3 p.Ser259Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CDH3 p.Ser444Phe Uncertain significance Single submitter
All CDH3 variants
Pathogenic 30
- c.160+1G>A Multiple submitters inherited retinal dystrophy
- p.Arg103Ter Multiple submitters inherited retinal dystrophy
- p.Arg221Ter Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- p.Gln299Ter Multiple submitters hypotrichosis
- p.Gly277fs Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- p.Lys106fs Multiple submitters
- p.Trp362Ter Multiple submitters inherited retinal dystrophy
- c.1796-2A>G Single submitter
- c.867+1G>A Single submitter EEM syndrome
- p.Ala40fs Single submitter
- p.Arg720Ter Single submitter EEM syndrome
- p.Asn134fs Single submitter
- p.Asp241fs Single submitter
- p.Asp372fs Single submitter
- p.Asp613fs Single submitter inherited retinal dystrophy
- p.Gln507Ter Single submitter inherited retinal dystrophy
- p.Leu687fs Single submitter
- p.Lys401fs Single submitter
- p.Lys611fs Single submitter
- p.Ser559fs Single submitter
- p.Thr310fs Single submitter
- p.Tyr249Ter Single submitter
- p.Val617fs Single submitter
- p.Val75fs Single submitter
- c.1183-2A>G No assertion criteria inherited retinal dystrophy
- c.1795+1G>C No assertion criteria congenital hypotrichosis with juvenile macular dystrophy
- c.692-1G>T No assertion criteria inherited retinal dystrophy
- p.Asn322Ile No assertion criteria EEM syndrome
- p.Met327fs No assertion criteria congenital hypotrichosis with juvenile macular dystrophy
- p.Ser223fs No assertion criteria hypotrichosis simplex
Pathogenic/Likely pathogenic 2
- c.691+1G>A Multiple submitters
- p.Arg503His Multiple submitters inherited retinal dystrophy ⚠
Likely pathogenic 20
- c.1424+1G>C Single submitter
- c.2002+2T>G Single submitter
- c.2002+5G>A Single submitter
- c.2003-2A>G Single submitter
- c.2280+1dup Single submitter
- c.247-2A>C Single submitter
- c.390+1G>C Single submitter
- c.46-1G>C Single submitter
- c.46-2A>G Single submitter
- c.46-2A>T Single submitter
- c.691+1G>C Single submitter
- c.868-2A>T Single submitter
- p.Asp355Tyr Single submitter congenital hypotrichosis with juvenile macular dystrophy
- p.Asp696fs Single submitter EEM syndrome
- p.Glu708Ter Single submitter EEM syndrome
- p.Val205Met Single submitter
- p.Cys640Gly No assertion criteria congenital hypotrichosis with juvenile macular dystrophy
- p.Gly277Asp No assertion criteria Hypotrichosis with juvenile macular dystrophy
- p.Met1Ile No assertion criteria retinitis pigmentosa
- p.Pro154fs No assertion criteria CDH3-related disorder
Conflicting classifications of pathogenicity 36
- c.1796-11G>T Single submitter EEM syndrome
- c.390+5G>A Single submitter EEM syndrome
- c.46-11C>T Single submitter EEM syndrome
- c.547-12T>C Single submitter EEM syndrome
- p.Ala662Thr Single submitter EEM syndrome ⚠
- p.Arg393Lys Single submitter EEM syndrome ⚠
- p.Arg681Gln Single submitter EEM syndrome ⚠
- p.Asn810= Single submitter
- p.Asp108= Single submitter EEM syndrome
- p.Asp218= Single submitter EEM syndrome
- p.Asp306= Single submitter EEM syndrome
- p.Asp373Asn Single submitter Inborn genetic diseases ⚠
- p.Asp481= Single submitter EEM syndrome
- p.Asp616= Single submitter EEM syndrome
- p.Asp788= Single submitter
- p.Gly705= Single submitter EEM syndrome
- p.Gly786Ser Single submitter EEM syndrome ⚠
- p.Gly825= Single submitter
- p.His266= Single submitter EEM syndrome
- p.Leu479Pro Single submitter inherited retinal dystrophy ⚠
- p.Leu687= Single submitter EEM syndrome
- p.Lys106= Single submitter EEM syndrome
- p.Met303Ile Single submitter EEM syndrome ⚠
- p.Met369Val Single submitter Inborn genetic diseases ⚠
- p.Pro726= Single submitter
- p.Ser787= Single submitter EEM syndrome
- p.Thr350= Single submitter EEM syndrome
- p.Thr37Ser Single submitter EEM syndrome ⚠
- p.Thr568= Single submitter
- p.Thr592Met Single submitter Inborn genetic diseases ⚠
- p.Tyr407= Single submitter EEM syndrome
- p.Tyr823= Single submitter EEM syndrome
- p.Val447Ile Single submitter EEM syndrome ⚠
- p.Val561Met Single submitter EEM syndrome ⚠
- p.Val595= Single submitter EEM syndrome
- p.Val603Ala Single submitter congenital hypotrichosis with juvenile macular dystrophy ⚠
Benign 40
- c.1183-119T>C Multiple submitters
- c.1424+23A>G Multiple submitters
- c.1571-75G>A Multiple submitters
- c.160+117G>A Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- c.161-123T>C Multiple submitters
- c.1796-137A>G Multiple submitters
- c.2003-46A>G Multiple submitters
- c.2281-288T>C Multiple submitters
- c.2281-45A>C Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- c.247-38A>G Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- c.390+37T>C Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- c.868-17C>T Multiple submitters
- c.997-139G>A Multiple submitters
- c.997-26T>C Multiple submitters
- c.*154G>T Multiple submitters EEM syndrome
- p.Arg477His Multiple submitters EEM syndrome
- p.Arg747= Multiple submitters congenital hypotrichosis with juvenile macular dystrophy
- p.Asn542= Multiple submitters EEM syndrome
- p.Gln563His Multiple submitters EEM syndrome ⚠
- p.Ile204= Multiple submitters EEM syndrome
- p.Lys419= Multiple submitters EEM syndrome
- p.Lys652= Multiple submitters EEM syndrome
- p.Pro47= Multiple submitters EEM syndrome
- p.Thr240= Multiple submitters EEM syndrome
- p.Thr271= Multiple submitters EEM syndrome
- c.1570+177C>T Single submitter
- c.1570+297T>G Single submitter
- c.2003-182C>A Single submitter
- c.2003-220C>T Single submitter
- c.2133+14_2133+22del Single submitter
- c.2134-154G>A Single submitter
- c.2134-155C>T Single submitter
- c.247-194del Single submitter
- c.692-129G>C Single submitter
- c.692-247G>A Single submitter
- c.692-248C>T Single submitter
- p.Asn412= Single submitter
- p.Asn523Ser Single submitter
- p.Ser194= Single submitter
- p.Thr592= Single submitter
Benign/Likely benign 9
- c.2280+7C>T Multiple submitters EEM syndrome
- c.996+13C>T Multiple submitters EEM syndrome
- c.*195G>T Multiple submitters EEM syndrome
- p.Arg363Cys Multiple submitters EEM syndrome ⚠
- p.Met269Leu Multiple submitters EEM syndrome ⚠
- p.Pro686= Multiple submitters EEM syndrome
- p.Ser115= Multiple submitters
- p.Thr500= Multiple submitters EEM syndrome
- p.Val429Ile Multiple submitters EEM syndrome
Likely benign 285
- c.1182+62G>A Multiple submitters
- c.1183-158A>G Multiple submitters
- c.1570+79C>T Multiple submitters
- c.1796-187C>T Multiple submitters
- c.1796-44G>A Multiple submitters
- c.2281-44G>T Multiple submitters
- c.546+35C>G Multiple submitters
- c.997-120G>A Multiple submitters
- p.Ala790= Multiple submitters
- p.Lys214= Multiple submitters
- p.Tyr806= Multiple submitters
- c.1182+12C>T Single submitter
- c.1182+13G>A Single submitter
- c.1182+13G>C Single submitter
- c.1182+19C>T Single submitter
- c.1182+8A>C Single submitter
- c.1182+9G>A Single submitter
- c.1183-15C>T Single submitter
- c.1183-9C>G Single submitter
- c.1424+11G>A Single submitter
- c.1424+19C>G Single submitter
- c.1424+7A>T Single submitter
- c.1425-4C>T Single submitter
- c.1570+12C>T Single submitter
- c.1571-16G>A Single submitter
- c.1571-16G>C Single submitter
- c.1571-20A>G Single submitter
- c.1571-8A>G Single submitter
- c.160+11C>T Single submitter
- c.160+9C>T Single submitter
- c.161-23C>T Single submitter
- c.161-8C>A Single submitter
- c.1795+18G>A Single submitter
- c.1795+20T>C Single submitter
- c.1796-11G>A Single submitter
- c.1796-13C>T Single submitter
- c.1796-14T>A Single submitter
- c.1796-6C>T Single submitter
- c.1796-8C>T Single submitter
- c.2002+17C>T Single submitter
- c.2002+180G>A Single submitter
- c.2002+18A>G Single submitter
- c.2002+7A>G Single submitter
- c.2003-11A>C Single submitter
- c.2003-16T>A Single submitter
- c.2003-17C>T Single submitter
- c.2003-257G>C Single submitter
- c.2003-8C>A Single submitter
- c.2133+12G>C Single submitter
- c.2134-13C>A Single submitter
- c.2134-13C>T Single submitter
- c.2134-14G>A Single submitter
- c.2134-15T>G Single submitter
- c.2280+10G>A Single submitter
- c.2280+11G>C Single submitter
- c.2280+16C>G Single submitter
- c.2280+7C>G Single submitter
- c.2280+8G>A Single submitter
- c.2281-14C>T Single submitter
- c.2281-16T>C Single submitter
- c.2281-17G>A Single submitter
- c.2281-19C>G Single submitter
- c.2281-19C>T Single submitter
- c.2281-274G>A Single submitter
- c.2281-4G>A Single submitter
- c.2281-5C>G Single submitter
- c.2281-5C>T Single submitter
- c.246+10C>G Single submitter
- c.246+17A>G Single submitter
- c.246+50A>G Single submitter
- c.246+9C>T Single submitter
- c.247-13T>C Single submitter
- c.247-194dup Single submitter
- c.247-4G>T Single submitter
- c.390+11G>A Single submitter
- c.390+12C>T Single submitter
- c.390+17T>C Single submitter
- c.391-10T>C Single submitter
- c.391-18A>T Single submitter
- c.45+11G>A Single submitter
- c.45+12C>G Single submitter
- c.45+12C>T Single submitter
- c.45+13C>G Single submitter
- c.45+19G>A Single submitter
- c.45+19G>T Single submitter
- c.45+79C>A Single submitter
- c.45+7C>G Single submitter
- c.45+8A>C Single submitter
- c.45+9C>T Single submitter
- c.46-16C>T Single submitter
- c.46-18C>T Single submitter
- c.46-5C>T Single submitter
- c.546+15G>A Single submitter
- c.546+19C>G Single submitter
- c.546+7A>C Single submitter
- c.547-15C>T Single submitter
- c.547-5C>T Single submitter
- c.547-6C>T Single submitter
- c.547-7C>A Single submitter
- c.547-8C>T Single submitter
- c.692-11C>T Single submitter
- c.692-19A>T Single submitter
- c.692-8C>T Single submitter
- c.867+11C>G Single submitter
- c.867+12_867+33del Single submitter
- c.867+14A>G Single submitter
- c.868-13C>G Single submitter
- c.868-19C>A Single submitter
- c.868-8C>T Single submitter
- c.996+16C>T Single submitter
- c.996+18C>T Single submitter
- c.996+19T>C Single submitter
- c.997-11C>T Single submitter
- c.997-16C>T Single submitter
- c.*142C>T Single submitter EEM syndrome
- c.*485A>G Single submitter EEM syndrome
- p.Ala325= Single submitter
- p.Ala34= Single submitter
- p.Ala361= Single submitter
- p.Ala520= Single submitter
- p.Ala764= Single submitter
- p.Ala789= Single submitter
- p.Arg175= Single submitter
- p.Arg28= Single submitter
- p.Arg477= Single submitter
- p.Arg480= Single submitter
- p.Arg510= Single submitter
- p.Arg731= Single submitter
- p.Arg815= Single submitter
- p.Asn191= Single submitter
- p.Asn322= Single submitter
- p.Asn358= Single submitter
- p.Asn435= Single submitter
- p.Asn512= Single submitter
- p.Asn566= Single submitter
- p.Asn596= Single submitter
- p.Asn697= Single submitter
- p.Asn756= Single submitter
- p.Asp174= Single submitter
- p.Asp355= Single submitter
- p.Asp372= Single submitter
- p.Asp468= Single submitter
- p.Asp489= Single submitter
- p.Asp502= Single submitter
- p.Asp522= Single submitter
- p.Asp586= Single submitter
- p.Asp588= Single submitter
- p.Asp693= Single submitter
- p.Asp710= Single submitter
- p.Asp714= Single submitter
- p.Asp733= Single submitter
- p.Asp768= Single submitter
- p.Asp828= Single submitter
- p.Cys638= Single submitter
- p.Gln236= Single submitter
- p.Gln260= Single submitter
- p.Gln472= Single submitter
- p.Gln563= Single submitter
- p.Gln582= Single submitter
- p.Gln61= Single submitter
- p.Glu177= Single submitter
- p.Glu432= Single submitter
- p.Glu549= Single submitter
- p.Glu628= Single submitter
- p.Glu685= Single submitter
- p.Glu704= Single submitter
- p.Glu83= Single submitter
- p.Gly2= Single submitter
- p.Gly251= Single submitter
- p.Gly370= Single submitter
- p.Gly493= Single submitter
- p.Gly499= Single submitter
- p.Gly78= Single submitter
- p.Gly784= Single submitter
- p.Gly813= Single submitter
- p.His105= Single submitter
- p.His186= Single submitter
- p.His430= Single submitter
- p.Ile279= Single submitter
- p.Ile318= Single submitter
- p.Ile368= Single submitter
- p.Ile567= Single submitter
- p.Ile589= Single submitter
- p.Ile754= Single submitter
- p.Ile95= Single submitter
- p.Leu11= Single submitter
- p.Leu169= Single submitter
- p.Leu183= Single submitter
- p.Leu19= Single submitter
- p.Leu286= Single submitter
- p.Leu418= Single submitter
- p.Leu479= Single submitter
- p.Leu501= Single submitter
- p.Leu519= Single submitter
- p.Leu535= Single submitter
- p.Leu538= Single submitter
- p.Leu572= Single submitter
- p.Leu606= Single submitter
- p.Leu621= Single submitter
- p.Leu660= Single submitter
- p.Leu667= Single submitter
- p.Leu670= Single submitter
- p.Leu722= Single submitter
- p.Leu730= Single submitter
- p.Leu792= Single submitter
- p.Leu819= Single submitter
- p.Leu93= Single submitter
- p.Lys212= Single submitter
- p.Lys401Gln Single submitter Inborn genetic diseases
- p.Lys445= Single submitter
- p.Lys469= Single submitter
- p.Lys684= Single submitter
- p.Lys99Arg Single submitter
- p.Phe158= Single submitter
- p.Phe66= Single submitter
- p.Pro123= Single submitter
- p.Pro148= Single submitter
- p.Pro26= Single submitter
- p.Pro326= Single submitter
- p.Pro338= Single submitter
- p.Pro454= Single submitter
- p.Pro574= Single submitter
- p.Pro648= Single submitter
- p.Pro648Ser Single submitter
- p.Pro690= Single submitter
- p.Pro740= Single submitter
- p.Pro748= Single submitter
- p.Pro772= Single submitter
- p.Pro773= Single submitter
- p.Pro92= Single submitter
- p.Pro97= Single submitter
- p.Ser152= Single submitter
- p.Ser280= Single submitter
- p.Ser359= Single submitter
- p.Ser423= Single submitter
- p.Ser559= Single submitter
- p.Ser785= Single submitter
- p.Ser798= Single submitter
- p.Ser800= Single submitter
- p.Ser98= Single submitter
- p.Thr206= Single submitter
- p.Thr295= Single submitter
- p.Thr310= Single submitter
- p.Thr311= Single submitter
- p.Thr37= Single submitter
- p.Thr381= Single submitter
- p.Thr463= Single submitter
- p.Thr528= Single submitter
- p.Thr531= Single submitter
- p.Thr554= Single submitter
- p.Thr614= Single submitter
- p.Thr631= Single submitter
- p.Thr716= Single submitter
- p.Thr737= Single submitter
- p.Thr74= Single submitter
- p.Thr796= Single submitter
- p.Tyr247= Single submitter
- p.Tyr294= Single submitter
- p.Tyr333= Single submitter
- p.Tyr615= Single submitter
- p.Tyr701= Single submitter
- p.Tyr774= Single submitter
- p.Val116= Single submitter
- p.Val228= Single submitter
- p.Val234= Single submitter
- p.Val281= Single submitter
- p.Val291= Single submitter
- p.Val337= Single submitter
- p.Val346= Single submitter
- p.Val36= Single submitter
- p.Val434= Single submitter
- p.Val446= Single submitter
- p.Val449= Single submitter
- p.Val459= Single submitter
- p.Val54= Single submitter
- p.Val547= Single submitter
- p.Val602= Single submitter
- p.Val603= Single submitter
- p.Val644= Single submitter
- p.Val677= Single submitter
- p.Val81= Single submitter
- c.2281-32C>T No assertion criteria CDH3-related disorder
- c.2281-90A>G No assertion criteria CDH3-related disorder
- c.-14CT[3] No assertion criteria CDH3-related disorder
- p.Ile633= No assertion criteria CDH3-related disorder
Uncertain significance 377
Showing the top 300 by review status; the full set is in the sitemap.
- c.1571-7C>G Multiple submitters EEM syndrome
- c.2003-10A>G Multiple submitters
- c.45+6C>T Multiple submitters EEM syndrome
- c.867+6T>C Multiple submitters EEM syndrome
- p.Ala150Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala159Thr Multiple submitters congenital hypotrichosis with juvenile macular dystrophy ⚠
- p.Ala22Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala34Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala356Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala361Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala361Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala400Gly Multiple submitters EEM syndrome ⚠
- p.Ala40Glu Multiple submitters ⚠
- p.Ala414Thr Multiple submitters EEM syndrome ⚠
- p.Ala64Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala724Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala749Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala789Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala799Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg137Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg221Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg274Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg274Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg551Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg551His Multiple submitters EEM syndrome ⚠
- p.Arg695Cys Multiple submitters ⚠
- p.Arg725Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg745Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp218His Multiple submitters Inborn genetic diseases ⚠
- p.Asp267Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp320Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp781Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp788Asn Multiple submitters EEM syndrome ⚠
- p.Asp807Asn Multiple submitters EEM syndrome ⚠
- p.Asp807Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys58Tyr Multiple submitters ⚠
- p.Gln802Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu334Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu413Ala Multiple submitters ⚠
- p.Glu645Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu703Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly285Val Multiple submitters EEM syndrome ⚠
- p.Gly371Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly374Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly48Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly493Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly702Ala Multiple submitters Inborn genetic diseases ⚠
- p.His382Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile513Phe Multiple submitters ⚠
- p.Ile553Asn Multiple submitters ⚠
- p.Ile567Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile754Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu12Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys684Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met269Thr Multiple submitters CDH3-related disorder ⚠
- p.Met56Val Multiple submitters EEM syndrome ⚠
- p.Met743Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro383Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro458Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro550Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro550Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro726Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro769Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro772Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser385Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser492Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser791_Leu792insTer Multiple submitters
- p.Ser98Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr248Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr278Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr311Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr365Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr424Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr528Ile Multiple submitters ⚠
- p.Trp18Arg Multiple submitters ⚠
- p.Tyr713Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val408Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val561Ala Multiple submitters ⚠
- c.1182+6T>A Single submitter
- c.1183-12C>T Single submitter EEM syndrome
- c.1424+4C>T Single submitter
- c.1571-13T>G Single submitter
- c.2133+6G>T Single submitter
- c.2280+6G>C Single submitter
- c.246+6A>T Single submitter
- c.390+4C>T Single submitter
- c.391-7_391-3del Single submitter
- c.45+6C>A Single submitter
- c.46-9C>A Single submitter
- c.546+9C>G Single submitter
- c.547-3C>T Single submitter
- c.868-6C>G Single submitter
- c.-11T>C Single submitter EEM syndrome
- c.-36C>T Single submitter EEM syndrome
- c.-6G>A Single submitter
- c.*149G>T Single submitter EEM syndrome
- c.*180G>C Single submitter EEM syndrome
- c.*2C>T Single submitter EEM syndrome
- c.*3G>T Single submitter EEM syndrome
- c.*405G>A Single submitter EEM syndrome
- c.*498G>A Single submitter EEM syndrome
- c.*523G>A Single submitter EEM syndrome
- c.*529G>A Single submitter EEM syndrome
- c.*535G>A Single submitter EEM syndrome
- c.*595G>A Single submitter EEM syndrome
- c.*87G>C Single submitter EEM syndrome
- c.*87G>T Single submitter EEM syndrome
- p.Ala187Ser Single submitter ⚠
- p.Ala193Asp Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala22Val Single submitter Inborn genetic diseases ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala314Glu Single submitter Inborn genetic diseases ⚠
- p.Ala321Val Single submitter ⚠
- p.Ala34Val Single submitter ⚠
- p.Ala464Val Single submitter ⚠
- p.Ala64Val Single submitter ⚠
- p.Ala735Thr Single submitter Inborn genetic diseases ⚠
- p.Ala789Thr Single submitter inherited retinal dystrophy ⚠
- p.Ala790Pro Single submitter ⚠
- p.Ala790Thr Single submitter ⚠
- p.Ala820Thr Single submitter ⚠
- p.Arg100Cys Single submitter ⚠
- p.Arg100His Single submitter ⚠
- p.Arg100Leu Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Arg348Lys Single submitter EEM syndrome ⚠
- p.Arg477Cys Single submitter ⚠
- p.Arg503Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg562Cys Single submitter Inborn genetic diseases ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg634Ser Single submitter ⚠
- p.Arg681Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg695Gly Single submitter Inborn genetic diseases ⚠
- p.Arg695His Single submitter ⚠
- p.Arg720Gln Single submitter ⚠
- p.Arg731Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg731His Single submitter ⚠
- p.Arg731Leu Single submitter ⚠
- p.Arg745His Single submitter ⚠
- p.Arg747Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg747Leu Single submitter ⚠
- p.Arg747Lys Single submitter
- p.Arg747Trp Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg815Cys Single submitter ⚠
- p.Arg815His Single submitter EEM syndrome ⚠
- p.Asn129His Single submitter ⚠
- p.Asn200Lys Single submitter ⚠
- p.Asn322Ser Single submitter ⚠
- p.Asn324Ser Single submitter ⚠
- p.Asn340Ile Single submitter ⚠
- p.Asn386Lys Single submitter Inborn genetic diseases ⚠
- p.Asn542Asp Single submitter ⚠
- p.Asn761Asp Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Asn91Tyr Single submitter ⚠
- p.Asp108His Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp197Gly Single submitter ⚠
- p.Asp373Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp466Glu Single submitter ⚠
- p.Asp466Gly Single submitter Inborn genetic diseases ⚠
- p.Asp489Asn Single submitter ⚠
- p.Asp491Glu Single submitter ⚠
- p.Asp502Asn Single submitter ⚠
- p.Asp586Glu Single submitter ⚠
- p.Asp623Glu Single submitter ⚠
- p.Asp692Glu Single submitter ⚠
- p.Asp696Asn Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Asp768Glu Single submitter ⚠
- p.Asp775Asn Single submitter ⚠
- p.Asp775Tyr Single submitter ⚠
- p.Asp775Val Single submitter Inborn genetic diseases ⚠
- p.Asp781Val Single submitter ⚠
- p.Asp788Glu Single submitter ⚠
- p.Asp801Asn Single submitter ⚠
- p.Asp803Asn Single submitter ⚠
- p.Asp807Glu Single submitter ⚠
- p.Asp821His Single submitter ⚠
- p.Asp829Asn Single submitter ⚠
- p.Asp829Gly Single submitter ⚠
- p.Cys556= Single submitter
- p.Cys556Gly Single submitter ⚠
- p.Gln15Arg Single submitter ⚠
- p.Gln20Arg Single submitter ⚠
- p.Gln217His Single submitter EEM syndrome ⚠
- p.Gln299Arg Single submitter ⚠
- p.Gln347His Single submitter ⚠
- p.Gln450Arg Single submitter ⚠
- p.Gln49Arg Single submitter ⚠
- p.Gln563_Val564delinsHisMet Single submitter
- p.Gln580His Single submitter EEM syndrome ⚠
- p.Gln711Leu Single submitter Inborn genetic diseases ⚠
- p.Gln802Arg Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu35Lys Single submitter ⚠
- p.Glu39del Single submitter
- p.Glu413Lys Single submitter ⚠
- p.Glu457Asp Single submitter ⚠
- p.Glu457Gly Single submitter ⚠
- p.Glu594Lys Single submitter Inborn genetic diseases ⚠
- p.Glu597Lys Single submitter ⚠
- p.Glu645Gly Single submitter ⚠
- p.Glu645Lys Single submitter ⚠
- p.Glu685Gly Single submitter ⚠
- p.Glu783Val Single submitter Inborn genetic diseases ⚠
- p.Glu79Lys Single submitter prostate cancer ⚠
- p.Glu811Lys Single submitter ⚠
- p.Gly149Glu Single submitter ⚠
- p.Gly165Ser Single submitter ⚠
- p.Gly231Arg Single submitter EEM syndrome ⚠
- p.Gly2Arg Single submitter Inborn genetic diseases ⚠
- p.Gly305Glu Single submitter ⚠
- p.Gly307Ala Single submitter ⚠
- p.Gly371Arg Single submitter ⚠
- p.Gly374Arg Single submitter ⚠
- p.Gly374Glu Single submitter ⚠
- p.Gly395Ser Single submitter ⚠
- p.Gly42Asp Single submitter ⚠
- p.Gly452Asp Single submitter ⚠
- p.Gly524Glu Single submitter ⚠
- p.Gly530Asp Single submitter ⚠
- p.Gly545Val Single submitter ⚠
- p.Gly599Cys Single submitter ⚠
- p.Gly60Arg Single submitter ⚠
- p.Gly653Glu Single submitter Inborn genetic diseases ⚠
- p.Gly654Asp Single submitter ⚠
- p.Gly6Arg Single submitter Inborn genetic diseases ⚠
- p.Gly702= Single submitter
- p.Gly705Ala Single submitter ⚠
- p.Gly755Ser Single submitter ⚠
- p.Gly755Val Single submitter ⚠
- p.Gly78Val Single submitter ⚠
- p.Gly826Arg Single submitter ⚠
- p.His211Gln Single submitter ⚠
- p.His258_Ser259del Single submitter
- p.His258Asn Single submitter ⚠
- p.His404Arg Single submitter ⚠
- p.His544Gln Single submitter EEM syndrome ⚠
- p.His575Arg Single submitter ⚠
- p.His624Arg Single submitter ⚠
- p.His719Tyr Single submitter ⚠
- p.Ile114Val Single submitter ⚠
- p.Ile145Thr Single submitter ⚠
- p.Ile178Val Single submitter ⚠
- p.Ile368del Single submitter
- p.Ile389Val Single submitter ⚠
- p.Ile427Thr Single submitter Inborn genetic diseases ⚠
- p.Ile589Phe Single submitter ⚠
- p.Ile739Phe Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu14del Single submitter
- p.Leu167Phe Single submitter Inborn genetic diseases ⚠
- p.Leu168Phe Single submitter Inborn genetic diseases ⚠
- p.Leu296Val Single submitter EEM syndrome ⚠
- p.Leu319Pro Single submitter ⚠
- p.Leu486Ile Single submitter Inborn genetic diseases ⚠
- p.Leu572Arg Single submitter ⚠
- p.Leu604Val Single submitter ⚠
- p.Leu675Trp Single submitter ⚠
- p.Leu676del Single submitter
- p.Leu687Val Single submitter ⚠
- p.Leu722Pro Single submitter ⚠
- p.Leu730Arg Single submitter Inborn genetic diseases ⚠
- p.Leu762Met Single submitter Inborn genetic diseases ⚠
- p.Leu777Phe Single submitter ⚠
- p.Lys140Asn Single submitter ⚠
- p.Lys180Gln Single submitter Inborn genetic diseases ⚠
- p.Lys212Asn Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys473Asn Single submitter ⚠
- p.Lys53Arg Single submitter ⚠
- p.Lys570Asn Single submitter ⚠
- p.Lys608_Lys611del Single submitter
- p.Met269Ile Single submitter ⚠
- p.Met327Thr Single submitter ⚠
- p.Met488Val Single submitter ⚠
- p.Met517Ile Single submitter ⚠
- p.Met521Val Single submitter ⚠
- p.Met743Thr Single submitter ⚠
- p.Phe270Cys Single submitter ⚠
- p.Phe398Ser Single submitter ⚠
- p.Phe440Ser Single submitter Inborn genetic diseases ⚠
- p.Phe609Leu Single submitter Inborn genetic diseases ⚠
- p.Phe780= Single submitter EEM syndrome
- p.Pro117Thr Single submitter ⚠
- p.Pro153Leu Single submitter ⚠
- p.Pro154Thr Single submitter Inborn genetic diseases ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro26Arg Single submitter Inborn genetic diseases ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro330His Single submitter ⚠
- p.Pro330Ser Single submitter Inborn genetic diseases ⚠
- p.Pro330Thr Single submitter ⚠