Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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) | Craniofacial-deafness-hand syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | 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 (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) | Alveolar rhabdomyosarcoma +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +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) | Waardenburg syndrome type 1 +1 more | |
Click to view in NCBI Gene