| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | PHYH-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Phytanic acid storage disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene