| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806529, PAX3 (I383T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126806529, PAX3 (P381H +1 more) | Single nucleotide variant (missense variant) | Hearing impairment +1 more | |
| | LOC126806529, PAX3 (P379S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806529, PAX3 (T338S +1 more) | Single nucleotide variant (missense variant) | Craniofacial-deafness-hand syndrome +2 more | |
| | LOC126806529, PAX3 (P332L +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
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