| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GATAD1, PEX1 (T831fs +2 more) | Deletion (frameshift variant) | Heimler syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +10 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Heimler syndrome 1 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene