| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (splice donor variant) | Optic atrophy 5 +2 more | |
| | | Deletion (intron variant) | not specified +3 more | |
Click to view in NCBI Gene