| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Missense | EDA | 457C>T | Arg153Cys | Amino Acid Substitution | 2009/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Missense | EDA | 463C>T | Arg155Cys | Amino Acid Substitution | 2009/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Missense | EDA | 1045G>A | Ala349Thr | Amino Acid Substitution | 2009/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Nonsense | EDA | 58C>T | Arg20* | Premature Termination | 2009/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Missense | EDA | 1091T>C | Met364Thr | Amino Acid Substitution | 0/Azeem et al., 2009 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Missense | EDA | 1076T>C | Met359Thr | Amino acid substitution | 2019/Parveen et al. 2019 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Missense | EDA | 1133C>T | Thr378Met | Amino acid substitution | 2019/Parveen et al. 2019 |
| Ectodermal Dysplasia Type 1 (ECTD1, EDA) | Hair, teeth & Sweat gland problem | X-Linked recessive | Xq12-q13.1 | Insertion | EDA | 594_595insC | Gly201Argfs*39 | Frameshift and PTC | 2019/Parveen et al. 2019 |
