| | LOC126806529, PAX3 (P330fs +1 more) | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Waardenburg syndrome type 1 | |
| | LOC107980445, CCDC140 +1 more | Single nucleotide variant (5 prime UTR variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | Waardenburg syndrome type 1 | |
| | | Duplication (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Microsatellite (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Deletion | Waardenburg syndrome type 1 | |
| | | Duplication (frameshift variant) | Waardenburg syndrome type 1 | |
| | LOC126806529, PAX3 (C354* +1 more) | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | LOC126806529, PAX3 (V338fs +1 more) | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Waardenburg syndrome type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Craniofacial-deafness-hand syndrome +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Waardenburg syndrome type 1 | |
| | | Deletion (intron variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Copy number loss | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +2 more | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +1 more | |
| | LOC126806529, PAX3 (S345P +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Microsatellite (frameshift variant) | Waardenburg syndrome | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 1 +1 more | |
| | | Insertion (frameshift variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Copy number loss | Waardenburg syndrome type 1 | |
| | | Duplication (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Deletion (nonsense) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Waardenburg syndrome type 1 | |
| | LOC126806529, PAX3 (T359fs +1 more) | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Duplication (frameshift variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 1 | |
| | LOC126806529, PAX3 (Q341* +1 more) | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Insertion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Duplication (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Indel (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |