| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (nonsense) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (3 prime UTR variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (3 prime UTR variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma +1 more | |
| | | Single nucleotide variant (synonymous variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (stop lost) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma +2 more | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant +1 more) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Acroerythrokeratoderma | |
| | | Single nucleotide variant (splice donor variant) | Acroerythrokeratoderma | |
| | | Deletion (frameshift variant) | Acroerythrokeratoderma +1 more | |