| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Craniofacial-deafness-hand syndrome | |
| | LOC126806529, PAX3 (S345P +1 more) | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Waardenburg syndrome +1 more | |
| | LOC126806529, PAX3 (T338S +1 more) | Single nucleotide variant (missense variant) | Craniofacial-deafness-hand syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | CCDC140, LOC107980445 +1 more | Single nucleotide variant (5 prime UTR variant) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Waardenburg syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Craniofacial-deafness-hand syndrome +3 more | GConflicting classifications of pathogenicity |
| | CCDC140, LOC107980445 +1 more | Single nucleotide variant (5 prime UTR variant) | Waardenburg syndrome +1 more | |
| | CCDC140, LOC107980445 +1 more | Single nucleotide variant (5 prime UTR variant) | Waardenburg syndrome +1 more | |
| | CCDC140, LOC107980445 +1 more | Single nucleotide variant (5 prime UTR variant) | Craniofacial-deafness-hand syndrome +1 more | |
| | CCDC140, LOC107980445 +1 more | Single nucleotide variant (5 prime UTR variant) | Waardenburg syndrome +1 more | |
| | CCDC140, LOC107980445 +1 more | Single nucleotide variant (5 prime UTR variant) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | PAX3-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Waardenburg syndrome +4 more | |
| | LOC126806529, PAX3 (P373L +1 more) | Single nucleotide variant (missense variant) | Waardenburg syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Craniofacial-deafness-hand syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Waardenburg syndrome +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Waardenburg syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Alveolar rhabdomyosarcoma +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | LOC126806529, PAX3 (P334S +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |