| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +2 more | |
| | LOC126806529, PAX3 (S345P +1 more) | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +4 more | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Waardenburg syndrome type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |