NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)Pathogenic
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|not provided|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Non-syndromic oligodontia|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
β
β
ββ2026β Residue 358
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)Pathogenic
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|not provided|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2026β Residue 420
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)Pathogenic
not provided|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
β
ββ2025β Residue 374
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)Pathogenic
not provided|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
β
ββ2025β Residue 301
NM_022336.4(EDAR):c.266G>A (p.Arg89His)Pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|not provided
β
β
ββ2025β Residue 89
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)Pathogenic
not provided|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|EDAR-related disorder
β
β
ββ2025β Residue 358
NM_022336.4(EDAR):c.730+1G>TPathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2024
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|not provided|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2024β Residue 98
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)Pathogenic
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|not provided
β
β
ββ2023β Residue 428
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)Likely pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2023β Residue 148
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)Pathogenic
not provided|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2023β Residue 382
NM_022336.4(EDAR):c.77C>T (p.Ala26Val)Pathogenic
Inborn genetic diseases|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2023β Residue 26
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)Pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β
β
ββ2022β Residue 240
NM_022336.4(EDAR):c.983del (p.Lys328fs)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
βββ2025β Residue 328
NM_022336.4(EDAR):c.52-25_52-8delLikely pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia
β
βββ2025
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)Likely pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|not provided
β
βββ2025β Residue 31
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
βββ2025β Residue 378
NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)Likely pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
βββ2025β Residue 420
NM_022336.4(EDAR):c.757del (p.Asp253fs)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
βββ2025β Residue 253
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β
βββ2025β Residue 433