NM_001399.5(EDA):c.467G>A (p.Arg156His)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided|Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia|Ectodermal dysplasia
β
β
ββ2026β Residue 156
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|EDA-related disorder|See cases
β
β
ββ2026β Residue 357
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|Tooth agenesis, selective, X-linked, 1
β
β
ββ2026
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided
β
β
ββ2025β Residue 349
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided
β
β
ββ2025β Residue 185
NM_001399.5(EDA):c.619G>A (p.Gly207Arg)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 207
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)Pathogenic
Hypodontia|Hypohidrotic X-linked ectodermal dysplasia|Inborn genetic diseases|not provided|Tooth agenesis, selective, X-linked, 1|EDA-related disorder|Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1
β
β
ββ2025β Residue 365
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|Anhidrotic ectodermal dysplasia|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β
β
ββ2025β Residue 153
NM_001399.5(EDA):c.707-13T>GPathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|EDA-related disorder
β
β
ββ2025
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided|Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 155
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 372
NM_001399.5(EDA):c.181T>C (p.Tyr61His)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 61
NM_001399.5(EDA):c.866G>A (p.Arg289His)Pathogenic
Hypodontia|Hypohidrotic X-linked ectodermal dysplasia|Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1|Anhidrotic ectodermal dysplasia|not provided|Ectodermal dysplasia
β
β
ββ2025β Residue 289
NC_000023.11:g.70027993_70028027delPathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025
NC_000023.11:g.70027902_70027919delPathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|EDA-related disorder|Tooth agenesis, selective, X-linked, 1
β
β
ββ2025
NM_001399.5(EDA):c.706+1G>APathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided|EDA-related disorder
β
β
ββ2025β Residue 156
NM_001399.5(EDA):c.917A>G (p.Gln306Arg)Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 306
NM_001399.5(EDA):c.754C>T (p.His252Tyr)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 252
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)Pathogenic
Tooth agenesis, selective, X-linked, 1|Hypohidrotic X-linked ectodermal dysplasia
β
β
ββ2025β Residue 289