| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | PAX3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Waardenburg syndrome type 1 | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR 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 |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Waardenburg 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) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel (frameshift variant +1 more) | PAX3-related disorder | |
| | | Duplication (frameshift variant +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Craniofacial-deafness-hand syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126806529, PAX3 (S389* +1 more) | Single nucleotide variant (nonsense) | Rare genetic deafness | |
| | LOC126806529, PAX3 (L387V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (G387D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (I383T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126806529, PAX3 (P381H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC126806529, PAX3 (P379S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806529, PAX3 (P375H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (S374L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (P373L +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | LOC126806529, PAX3 (P371L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (V371L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (S368R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806529, PAX3 (Y365fs +1 more) | Deletion (frameshift variant) | not provided | |
| | LOC126806529, PAX3 (T359fs +1 more) | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806529, PAX3 (A352S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (S345P +1 more) | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC126806529, PAX3 (S341R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806529, PAX3 (Q341* +1 more) | Single nucleotide variant (nonsense) | Waardenburg syndrome type 1 | |
| | LOC126806529, PAX3 (V338fs +1 more) | Deletion (frameshift variant) | not provided | |
| | LOC126806529, PAX3 (T338S +1 more) | Single nucleotide variant (missense variant) | Craniofacial-deafness-hand syndrome +2 more | |
| | LOC126806529, PAX3 (P334S +1 more) | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | LOC126806529, PAX3 (P332L +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126806529, PAX3 (Q331* +1 more) | Single nucleotide variant (nonsense) | PAX3-related disorder | |
| | LOC126806529, PAX3 (V327I +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |