MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Ectodermal Dysplasia (D004476)
Parent Node:
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Hand Deformities, Congenital (D006228)
Parent Node:
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Macular Degeneration (D008268)
..Starting node
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Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)

       Child Nodes:



 Sister Nodes: 
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandFundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..expandGeographic Atrophy (D057092)
..expandJuvenile macular degeneration and hypotrichosis (C537698)
..expandMacular Degeneration, Age-Related, 1 (C566411)
..expandMacular Degeneration, Age-Related, 10 (C566935)
..expandMacular Degeneration, Age-Related, 11 (C567450)
..expandMACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
..expandMACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
..expandMACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
..expandMACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
..expandMacular Degeneration, Age-Related, 2 (C562479)
..expandMacular Degeneration, Age-Related, 3 (C563838)
..expandMacular Degeneration, Age-Related, 4 (C565196)
..expandMACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
..expandMacular Degeneration, Age-Related, 6 (C563674)
..expandMacular Degeneration, Age-Related, 7 (C565718)
..expandMACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
..expandMacular Degeneration, Age-Related, 9 (C566958)
..expandMACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMacular dystrophy, concentric annular (C537833)
..expandMACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMacular Edema (D008269)
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandOCCULT MACULAR DYSTROPHY (OMIM:613587)
..expandStargardt disease 1 (C535804)
..expandStargardt disease 3 (C535805)
..expandStargardt disease 4 (C535521)
..expandStargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..expandVitelliform Macular Dystrophy (D057826) Child2
..expandWet Macular Degeneration (D057135)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3981
Name:Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Definition:
Alternative IDs:OMIM:225280
ParentIDs:MESH:D004476|MESH:D006228|MESH:D008268
TreeNumbers:C05.390.408/C536190 |C05.660.585.988.425/C536190 |C11.768.585.439/C536190 |C16.131.077.350/C536190 |C16.131.621.585.988.500/C536190 |C16.131.831.350/C536190 |C16.320.850.250/C536190 |C17.800.804.350/C536190 |C17.800.827.250/C536190
Synonyms:ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME |Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy |EEMS |EEM Syndrome
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease
Reference: MedGen: C536190
MeSH: C536190
OMIM: 225280;
MSeqDR LSDB:  
Genes: CDH3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0012385Camptodactyly
3 HP:0000968Ectodermal dysplasia
4 HP:0009473Joint contracture of the hand
5 HP:0007754Macular dystrophy
6 HP:0000691Microdontia
7 HP:0001592Selective tooth agenesis
8 HP:0000535Sparse and thin eyebrow
9 HP:0000653Sparse eyelashes
10 HP:0002209Sparse scalp hair
11 HP:0001171Split hand
12 HP:0001159Syndactyly
13 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001793.5(CDH3):c.-1085A>G1001CDH3Uncertain significancers768872455RCV000402081; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867819868678198AG16:g.68678198A>GClinGen:CA10638213C1857041 225280 EEM syndrome;
NM_001793.5(CDH3):c.-983A>G1001CDH3Uncertain significancers151123159RCV000286393; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867830068678300AG16:g.68678300A>GClinGen:CA10648750C1857041 225280 EEM syndrome;
NM_001793.5(CDH3):c.-679T>C1001CDH3Uncertain significancers150247850RCV000339062; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867860468678604TC16:g.68678604T>CClinGen:CA10648752
NM_001793.5(CDH3):c.-646_-645insA1001CDH3Uncertain significancers886052221RCV000390892; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867863768678638CCA16:g.68678637_68678638insAClinGen:CA10644087
NM_001793.5(CDH3):c.-629dupA1001CDH3Benignrs11440411RCV000308578; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867863868678639CCA16:g.68678638_68678639insAClinGen:CA10648757
NM_001793.5(CDH3):c.-635_-634insG1001CDH3Uncertain significancers886052222RCV000365625; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867864868678649AAG16:g.68678648_68678649insGClinGen:CA10647943
NM_001793.5(CDH3):c.-634_-633insG1001CDH3Uncertain significancers886052224RCV000314275; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867864968678650AAG16:g.68678649_68678650insGClinGen:CA10644092
NM_001793.5(CDH3):c.-626_-620delAAAAAGA1001CDH3Uncertain significancers886052223RCV000403396; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867864968678655AAAAAAAGA16:g.68678649_68678655delClinGen:CA10648760
NM_001793.5(CDH3):c.-628G>A1001CDH3Uncertain significancers796187375RCV000371366; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867865568678655GA16:g.68678655G>AClinGen:CA10638214
NM_001793.5(CDH3):c.-621G>A1001CDH3Uncertain significancers886052225RCV000274484; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867866268678662GA16:g.68678662G>AClinGen:CA10644093
NM_001793.5(CDH3):c.-537A>G1001CDH3Benignrs11644435RCV000331655; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867874668678746AG16:g.68678746A>GClinGen:CA10648761
NM_001793.5(CDH3):c.-399G>C1001CDH3Likely benignrs74674351RCV000356119; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867888468678884GC16:g.68678884G>CClinGen:CA10647944
NM_001793.5(CDH3):c.-302C>T1001CDH3Uncertain significancers145687049RCV000263804; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867898168678981CT16:g.68678981C>TClinGen:CA10647951
NM_001793.5(CDH3):c.-282G>T1001CDH3Uncertain significancers886052226RCV000316650; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867900168679001GT16:g.68679001G>TClinGen:CA10647954
NM_001793.5(CDH3):c.-267C>T1001CDH3Uncertain significancers182969772RCV000373279; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867901668679016CT16:g.68679016C>TClinGen:CA10647958
NM_001793.5(CDH3):c.-193G>T1001CDH3Uncertain significancers550203444RCV000285842; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867909068679090GT16:g.68679090G>TClinGen:CA10647960
NM_001793.5(CDH3):c.-141C>G1001CDH3Uncertain significancers537339409RCV000324359; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867914268679142CG16:g.68679142C>GClinGen:CA10648762
NM_001793.5(CDH3):c.-140G>T1001CDH3Uncertain significancers886052227RCV000376671; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867914368679143GT16:g.68679143G>TClinGen:CA10647961
NM_001793.5(CDH3):c.-72T>C1001CDH3Uncertain significancers557660477RCV000284698; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867921168679211TC16:g.68679211T>CClinGen:CA10648763
NM_001793.6(CDH3):c.-36C>T1001CDH3Uncertain significancers373351410RCV000346627; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867924768679247CT16:g.68679247C>TClinGen:CA8128887
NM_001793.6(CDH3):c.-11T>C1001CDH3Uncertain significancers370893872RCV000401003; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867927268679272TC16:g.68679272T>CClinGen:CA8128894
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe)1001CDH3Uncertain significance-1RCV001117367|RCV001247426; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166867931668679316CT16:g.68679316C>T-
NM_001793.6(CDH3):c.45+6C>T1001CDH3Uncertain significance-1RCV001117368; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867933368679333CT16:g.68679333C>T-
NM_001793.6(CDH3):c.46-11C>T1001CDH3Uncertain significance-1RCV001117369; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867952868679528CT16:g.68679528C>T-
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr)1001CDH3Uncertain significancers749754991RCV000288285; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867959368679593GA16:g.68679593G>AClinGen:CA8128928
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser)1001CDH3Likely benign-1RCV001117370; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867960268679602AT16:g.68679602A>T-
NM_001793.6(CDH3):c.141C>G (p.Pro47=)1001CDH3Benignrs74619658RCV000906319|RCV001117371; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166867963468679634CG16:g.68679634C>G-
NM_001793.6(CDH3):c.166A>G (p.Met56Val)1001CDH3Uncertain significancers886052228RCV000345052|RCV001229759; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871029368710293AG16:g.68710293A>GClinGen:CA10648768
NM_001793.6(CDH3):c.318G>A (p.Lys106=)1001CDH3Uncertain significancers886052229RCV000407393; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871210868712108GA16:g.68712108G>AClinGen:CA10638215
NM_001793.6(CDH3):c.324T>C (p.Asp108=)1001CDH3Uncertain significance-1RCV001118980; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871211468712114TC16:g.68712114T>C-
NM_001793.6(CDH3):c.390+5G>A1001CDH3Conflicting interpretations of pathogenicityrs570628442RCV000314614|RCV000914847; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871218568712185GA16:g.68712185G>AClinGen:CA8129003
NM_001793.6(CDH3):c.547-12T>C1001CDH3Uncertain significance-1RCV001118981; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871265368712653TC16:g.68712653T>C-
NM_001793.6(CDH3):c.612C>A (p.Ile204=)1001CDH3Benignrs8049247RCV000366913; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871273068712730CA16:g.68712730C>AClinGen:CA8129079
NM_001793.6(CDH3):c.651G>C (p.Gln217His)1001CDH3Uncertain significance-1RCV001118982; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871276968712769GC16:g.68712769G>C-
NM_001793.6(CDH3):c.654C>T (p.Asp218=)1001CDH3Uncertain significance-1RCV001118983; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871277268712772CT16:g.68712772C>T-
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg)1001CDH3Uncertain significancers886052230RCV000407443; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871280968712809GC16:g.68712809G>CClinGen:CA10648769
NM_001793.6(CDH3):c.720G>A (p.Thr240=)1001CDH3Benignrs2296409RCV000299306|RCV000836363; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871373068713730GA16:g.68713730G>AClinGen:CA8129132
NM_001793.6(CDH3):c.798C>T (p.His266=)1001CDH3Uncertain significance-1RCV001120951; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871380868713808CT16:g.68713808C>T-
NM_001793.6(CDH3):c.805A>C (p.Met269Leu)1001CDH3Benign/Likely benignrs36038900RCV000326394|RCV000356369|RCV000658749; NMedGen:CN169374|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871381568713815AC16:g.68713815A>CClinGen:CA8129145C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.813C>A (p.Thr271=)1001CDH3Benignrs2296408RCV000259290|RCV000836653; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871382368713823CA16:g.68713823C>AClinGen:CA8129150
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp)1001CDH3Uncertain significance-1RCV001120952; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871383068713830CT16:g.68713830C>T-
NM_001793.6(CDH3):c.830del (p.Gly277fs)1001CDH3Pathogenicrs724159985RCV000019208|RCV000505148; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|Human Phenotype Ontology:HP:0007638,Human Phenotype Ontology:HP:0007754,Human Phenotype Ontology:HP:0007798,Human Phenotype Ontology:HP:0007914,Human Phenotype Ontology:HP:0007919,Human Pheno166871383968713839AGA16:g.68713839_68713839delClinGen:CA127318,OMIM:114021.0004
NM_001793.6(CDH3):c.854G>T (p.Gly285Val)1001CDH3Uncertain significance-1RCV001116024; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871386468713864GT16:g.68713864G>T-
NM_001793.6(CDH3):c.867+6T>C1001CDH3Uncertain significancers753122508RCV000317257; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871388368713883TC16:g.68713883T>CClinGen:CA8129161
NM_001793.6(CDH3):c.886C>G (p.Leu296Val)1001CDH3Uncertain significancers565345878RCV000360247; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871488968714889CG16:g.68714889C>GClinGen:CA8129184
NM_001793.6(CDH3):c.909G>T (p.Met303Ile)1001CDH3Uncertain significance-1RCV001116025; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871491268714912GT16:g.68714912G>T-
NM_001793.6(CDH3):c.918C>T (p.Asp306=)1001CDH3Conflicting interpretations of pathogenicityrs201521473RCV000733939|RCV001116026; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871492168714921CT16:g.68714921C>T-
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile)1001CDH3Pathogenicrs121434543RCV000019207; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871496868714968AT16:g.68714968A>TClinGen:CA127317,UniProtKB:P22223#VAR_033010,OMIM:114021.0003C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.996+13C>T1001CDH3Benign-1RCV001116027; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871501268715012CT16:g.68715012C>T-
NM_001793.6(CDH3):c.1011G>C (p.Val337=)1001CDH3Uncertain significancers201726457RCV000268017|RCV000592013; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871621968716219GC16:g.68716219G>CClinGen:CA8129231
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys)1001CDH3Uncertain significancers886052231RCV000320834; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871625168716251GA16:g.68716251G>AClinGen:CA10648774
NM_001793.6(CDH3):c.1050G>A (p.Thr350=)1001CDH3Uncertain significance-1RCV001117476; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871625868716258GA16:g.68716258G>A-
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys)1001CDH3Benign/Likely benignrs74026937RCV000596107|RCV000922226|RCV001117477; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871629568716295CT16:g.68716295C>TClinGen:CA8129252CN169374 not specified;
NM_001793.6(CDH3):c.1119C>T (p.Asp373=)1001CDH3Uncertain significance-1RCV001117478; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871632768716327CT16:g.68716327C>T-
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys)1001CDH3Uncertain significancers766325919RCV000377521|RCV000733024; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871638668716386GA16:g.68716386G>AClinGen:CA8129268
NM_001793.6(CDH3):c.1183-12C>T1001CDH3Uncertain significancers886052232RCV000290318; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871847468718474CT16:g.68718474C>TClinGen:CA10648775
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=)1001CDH3Uncertain significance-1RCV001117479; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871852468718524CT16:g.68718524C>T-
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr)1001CDH3Uncertain significancers145203128RCV000328884; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871854368718543GA16:g.68718543G>AClinGen:CA8129306
NM_001793.6(CDH3):c.1257G>A (p.Lys419=)1001CDH3Benignrs11860187RCV000381149|RCV000947710; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871856068718560GA16:g.68718560G>AClinGen:CA8129307
NM_001793.6(CDH3):c.1284G>A (p.Val428=)1001CDH3Uncertain significance-1RCV001119080; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871858768718587GA16:g.68718587G>A-
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile)1001CDH3Benignrs34394404RCV000086951|RCV001119081; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871858868718588GA16:g.68718588G>AClinGen:CA228898CN517202 not provided;
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile)1001CDH3Uncertain significancers145160881RCV000295157|RCV001054282; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871864268718642GA16:g.68718642G>AClinGen:CA8129330
NM_001793.6(CDH3):c.1430G>A (p.Arg477His)1001CDH3Benignrs34494880RCV000352422; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871911368719113GA16:g.68719113G>AClinGen:CA8129365,UniProtKB:P22223#VAR_031930
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro)1001CDH3Conflicting interpretations of pathogenicityrs138190335RCV000174054|RCV000385875|RCV000894059; NMedGen:CN169374|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871911968719119TC16:g.68719119T>CClinGen:CA200814C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)1001CDH3Conflicting interpretations of pathogenicityrs144403828RCV000174055|RCV000293983; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166871912668719126CT16:g.68719126C>TClinGen:CA239524C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1500C>T (p.Thr500=)1001CDH3Benign/Likely benignrs35232945RCV000336413|RCV000337378|RCV000966450; NMedGen:CN169374|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166871918368719183CT16:g.68719183C>TClinGen:CA8129378C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1571-7C>G1001CDH3Uncertain significancers373529822RCV000407662; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872140868721408CG16:g.68721408C>GClinGen:CA8129413
NM_001793.6(CDH3):c.1593G>A (p.Thr531=)1001CDH3Uncertain significancers147208782RCV000297660; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872143768721437GA16:g.68721437G>AClinGen:CA8129422
NM_001793.6(CDH3):c.1626T>C (p.Asn542=)1001CDH3Benignrs2296405RCV000336277|RCV000836654; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872147068721470TC16:g.68721470T>CClinGen:CA8129427
NM_001793.6(CDH3):c.1632T>G (p.His544Gln)1001CDH3Uncertain significance-1RCV001121044; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872147668721476TG16:g.68721476T>G-
NM_001793.6(CDH3):c.1652G>A (p.Arg551His)1001CDH3Uncertain significancers779413254RCV000591331|RCV001121045; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872149668721496GA16:g.68721496G>AClinGen:CA8129434CN169374 not specified;
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)1001CDH3Uncertain significancers151198926RCV000407632|RCV000595748; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872152568721525GA16:g.68721525G>AClinGen:CA8129438
NM_001793.6(CDH3):c.1689G>C (p.Gln563His)1001CDH3Benignrs1126933RCV000305316|RCV000836749; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872153368721533GC16:g.68721533G>CClinGen:CA8129442,UniProtKB:P22223#VAR_031931
NM_001793.6(CDH3):c.1740G>C (p.Gln580His)1001CDH3Uncertain significancers886052233RCV000357708; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872158468721584GC16:g.68721584G>CClinGen:CA10647963C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1785C>T (p.Val595=)1001CDH3Conflicting interpretations of pathogenicityrs376302917RCV000334252|RCV001116137; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872162968721629CT16:g.68721629C>TClinGen:CA8129467CN169374 not specified;
NM_001793.6(CDH3):c.1796-11G>T1001CDH3Uncertain significancers752252704RCV000265334; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872561268725612GT16:g.68725612G>TClinGen:CA8129488C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala)1001CDH3Uncertain significance-1RCV001116138|RCV001213708; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872563568725635TC16:g.68725635T>C-
NM_001793.6(CDH3):c.1848C>T (p.Asp616=)1001CDH3Conflicting interpretations of pathogenicityrs768811436RCV000308643|RCV000910243; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872567568725675CT16:g.68725675C>TClinGen:CA8129498
NM_001793.6(CDH3):c.1932C>T (p.Val644=)1001CDH3Uncertain significancers750805163RCV000365694|RCV000729044; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872575968725759CT16:g.68725759C>TClinGen:CA10647964
NM_001793.6(CDH3):c.1956G>A (p.Lys652=)1001CDH3Benignrs2274239RCV000268784|RCV000836655; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872578368725783GA16:g.68725783G>AClinGen:CA8129518
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr)1001CDH3Conflicting interpretations of pathogenicityrs372221192RCV000935013|RCV001116139; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872581168725811GA16:g.68725811G>A-
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)1001CDH3Conflicting interpretations of pathogenicityrs758614807RCV000326141|RCV000388300; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872919768729197GA16:g.68729197G>AClinGen:CA8129554C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.2058C>T (p.Pro686=)1001CDH3Benignrs116035854RCV000879141|RCV001117571; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872921368729213CT16:g.68729213C>T-
NM_001793.6(CDH3):c.2061C>T (p.Leu687=)1001CDH3Uncertain significance-1RCV001117572; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872921668729216CT16:g.68729216C>T-
NM_001793.6(CDH3):c.2070A>G (p.Pro690=)1001CDH3Uncertain significancers886052234RCV000388706; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872922568729225AG16:g.68729225A>GClinGen:CA10647965
NM_001793.6(CDH3):c.2087del (p.Asp696fs)1001CDH3Likely pathogenic-1RCV001196535; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872924268729242GAG16:g.68729242_68729242del-
NM_001793.6(CDH3):c.2115G>A (p.Gly705=)1001CDH3Uncertain significance-1RCV001117573; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872927068729270GA16:g.68729270G>A-
NM_001793.6(CDH3):c.2227A>G (p.Met743Val)1001CDH3Uncertain significance-1RCV001117574; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872977368729773AG16:g.68729773A>G-
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)1001CDH3Benignrs17715450RCV000079721|RCV000277967|RCV000841447; NMedGen:CN169374|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872978568729785CA16:g.68729785C>AClinGen:CA147289
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr)1001CDH3Uncertain significance-1RCV001119174; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166872979768729797CA16:g.68729797C>A-
NM_001793.6(CDH3):c.2280+7C>T1001CDH3Benignrs114709429RCV000330709|RCV000949813; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166872983368729833CT16:g.68729833C>TClinGen:CA8129634
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr)1001CDH3Uncertain significancers775268226RCV000625862; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873211868732118CA16:g.68732118C>AClinGen:CA396456675C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.2340C>T (p.Phe780=)1001CDH3Uncertain significance-1RCV001119175; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873215368732153CT16:g.68732153C>T-
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)1001CDH3Uncertain significancers34813787RCV000512996|RCV001119176; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873216968732169GA16:g.68732169G>AClinGen:CA8129709CN517202 not provided;
NM_001793.6(CDH3):c.2361C>T (p.Ser787=)1001CDH3Uncertain significancers201352240RCV000387607; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873217468732174CT16:g.68732174C>TClinGen:CA8129710
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn)1001CDH3Uncertain significance-1RCV001045345|RCV001119177; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873217568732175GA16:g.68732175G>A-
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn)1001CDH3Uncertain significancers535174122RCV000281554; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873223268732232GA16:g.68732232G>AClinGen:CA8129734
NM_001793.6(CDH3):c.2444G>A (p.Arg815His)1001CDH3Uncertain significancers557740168RCV000338880; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873225768732257GA16:g.68732257G>AClinGen:CA8129745
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=)1001CDH3Conflicting interpretations of pathogenicityrs576190086RCV000915385|RCV001121167; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873228268732282CT16:g.68732282C>T-
NM_001793.6(CDH3):c.2484C>T (p.Asp828=)1001CDH3Uncertain significancers202210726RCV000372482; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873229768732297CT16:g.68732297C>TClinGen:CA8129753
NM_001793.6(CDH3):c.*2C>T1001CDH3Uncertain significance-1RCV001121168; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873230568732305CT16:g.68732305C>T-
NM_001793.6(CDH3):c.*3G>T1001CDH3Uncertain significance-1RCV001121169; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873230668732306GT16:g.68732306G>T-
NM_001793.6(CDH3):c.*87G>C1001CDH3Uncertain significancers555473968RCV000280279; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873239068732390GC16:g.68732390G>CClinGen:CA10647967
NM_001793.6(CDH3):c.*87G>T1001CDH3Uncertain significance-1RCV001121170; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873239068732390GT16:g.68732390G>T-
NM_001793.6(CDH3):c.*142C>T1001CDH3Likely benign-1RCV001121171; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873244568732445CT16:g.68732445C>T-
NM_001793.6(CDH3):c.*149G>T1001CDH3Uncertain significance-1RCV001121172; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873245268732452GT16:g.68732452G>T-
NM_001793.6(CDH3):c.*154G>T1001CDH3Benignrs1886699RCV000341921; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873245768732457GT16:g.68732457G>TClinGen:CA10647969
NM_001793.6(CDH3):c.*180G>C1001CDH3Uncertain significance-1RCV001116249; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873248368732483GC16:g.68732483G>C-
NM_001793.6(CDH3):c.*195G>T1001CDH3Benign-1RCV001116250; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873249868732498GT16:g.68732498G>T-
NM_001793.6(CDH3):c.*405G>A1001CDH3Uncertain significancers778268579RCV000390035; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873270868732708GA16:g.68732708G>AClinGen:CA10644106
NM_001793.6(CDH3):c.*485A>G1001CDH3Likely benignrs192275133RCV000302243; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873278868732788AG16:g.68732788A>GClinGen:CA10647971
NM_001793.6(CDH3):c.*498G>A1001CDH3Uncertain significancers746152331RCV000340745; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873280168732801GA16:g.68732801G>AClinGen:CA10648782
NM_001793.6(CDH3):c.*523G>A1001CDH3Uncertain significance-1RCV001116251; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873282668732826GA16:g.68732826G>A-
NM_001793.6(CDH3):c.*529G>A1001CDH3Uncertain significancers886052235RCV000390962; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873283268732832GA16:g.68732832G>AClinGen:CA10638232
NM_001793.6(CDH3):c.*535G>A1001CDH3Uncertain significance-1RCV001117695; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873283868732838GA16:g.68732838G>A-
NM_001793.6(CDH3):c.*595G>A1001CDH3Uncertain significancers111487714RCV000310512; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897166873289868732898GA16:g.68732898G>AClinGen:CA10648783
MSeqDR Portal