| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806529, PAX3 (S345P +1 more) | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Alveolar rhabdomyosarcoma +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 3 +6 more | GConflicting classifications of pathogenicity |
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