| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, nail & teeth problem | Autosomal Recessive | 2q13 | Deletion | EDAR | 718delAAAG | Frame shift mutation | 2005/Naeem et al., 2005 | |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, nail & teeth problem | Autosomal Recessive | 2q13 | Missense | EDAR | 1144G>A | Gly382Ser | Amino Acid Substitution | 2005/Naeem et al., 2005 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Missense | EDAR | 293G>A | Arg98Gln | Amino Acid Substitution | 2009/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Missense | EDAR | 1073G>A | Arg358Gln | Amino Acid Substitution | 2009/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Missense | EDAR | 1300T>C | Trp434Arg | Amino Acid Substitution | 0/Shimomura et al., 2009 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Deletion | EDAR | 399_404del | M133_C135delinsI | Frame shift mutation | 0/Tariq et al., 2007 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Splice site | EDAR | 442+1G>C | Frame shift mutation | 0/Wasif et al., 2010 | |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Nonsense | EDAR | 370G>T | Glu124* | Premature Termination | 0/Bibi et al., 2011 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | hypohidrosis, extreme hyperthermia, and extreme dryness of the skin and eye | Autosomal Recessive | 2q13 | nonsense mutation | EDAR | 1249C>T | Gln417* | Pre-mature Termination | Ahmad et al., 2019/2019 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Splice site | EDAR | c.52-1G>A | Exon skipping | 2020/Khan et al. 2020 | |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Missense | EDAR | 77C>T | Ala26Val | Amino acid substitution | 2020/Khan et al. 2020 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Nonsense | EDAR | 73C>T | Arg25* | PTC | 2020/Khan et al. 2020 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Deletion & insertion | EDAR | 207delinsTT | Gly70Trpfs*25 | Frameshift | 2019/Parveen et al. 2019 |
| Ectodermal Dysplasia Type 10 (ECTD10, EDAR) | Hair, teeth & Sweat gland problem | Autosomal Recessive | 2q13 | Missense | EDAR | 1300T>G | Trp434Gly | Amino acid substitution | 2019/Parveen et al. 2019 |
