| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Duplication (frameshift variant +2 more) | Waardenburg syndrome type 2E | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Microsatellite (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Indel (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Deafness with anatomical inner ear anomalies +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Indel (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | PCWH syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | ANKRD54, C22orf23 +13 more | Copy number loss | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (intron variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E +1 more | |
| | | Deletion (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 4C | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Waardenburg syndrome type 4C +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Waardenburg syndrome type 4C +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (intron variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 4C +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 2E +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 4C +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | PCWH syndrome +5 more | |