| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 80 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene