| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C17orf107, C17orf114 +498 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ASPA, LOC100288728 +12 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Single nucleotide variant (intron variant) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Microsatellite (3 prime UTR variant +1 more) | Olmsted syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Olmsted syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Deletion (3 prime UTR variant +1 more) | Olmsted syndrome 1 | |
| | | Insertion (3 prime UTR variant +1 more) | Olmsted syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Deletion (3 prime UTR variant +1 more) | Olmsted syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Deletion (3 prime UTR variant +1 more) | Olmsted syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated focal non-epidermolytic palmoplantar keratoderma | |