| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 73 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | Mucopolysaccharidosis, MPS-III-C +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene