| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene