| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | LOC124174256, LOC124174257 +541 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (3 prime UTR variant) | Piebaldism | |
| | | Deletion | Piebaldism | |
| | | Deletion | Waardenburg syndrome type 2D | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Piebaldism | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SNAI2-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Piebaldism | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Piebaldism | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Piebaldism | |
| | | Single nucleotide variant (synonymous variant) | SNAI2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Piebaldism +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Piebaldism | |
| | | Single nucleotide variant (synonymous variant) | SNAI2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |