Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GATAD1, PEX1 (D1029Y +2 more) | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder due to PEX1 defect | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder due to PEX1 defect +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | GATAD1, PEX1 (D1095N +2 more) | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder due to PEX1 defect +5 more | GConflicting classifications of pathogenicity |
| | GATAD1, PEX1 (G973fs +2 more) | Deletion (frameshift variant) | Zellweger spectrum disorders +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene