| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MIF4GD-DT, SLC25A19 (F281C) | Single nucleotide variant (non-coding transcript variant +1 more) | Amish lethal microcephaly +1 more | GConflicting classifications of pathogenicity |
| | MIF4GD-DT, SLC25A19 (R260Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Amish lethal microcephaly +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive demyelinating neuropathy with bilateral striatal necrosis +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive demyelinating neuropathy with bilateral striatal necrosis +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene