| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dyschromatosis universalis hereditaria 1 | |
| | | Single nucleotide variant (missense variant) | Dyschromatosis universalis hereditaria 1 | |
| | | Single nucleotide variant (missense variant) | Dyschromatosis universalis hereditaria 1 | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia-syndactyly syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | |
| | | Single nucleotide variant (missense variant) | Mowat-Wilson syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia-syndactyly syndrome 1 | |
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