| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EMC1, EMC1-AS1 (E870* +4 more) | Single nucleotide variant (nonsense) | Cerebellar atrophy, visual impairment, and psychomotor retardation; | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more | GConflicting classifications of pathogenicity |
| | EMC1, EMC1-AS1 (G745V +4 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; | |
| | EMC1, EMC1-AS1 (R362W +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene