| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EMC1, EMC1-AS1 (G686E +4 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more | |
| | EMC1-AS1, EMC1 (P252S +1 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more | |
| | EMC1, EMC1-AS1 (A211V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cerebellar atrophy, visual impairment, and psychomotor retardation; | |
| | EMC1, EMC1-AS1 (Q199* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cerebellar atrophy, visual impairment, and psychomotor retardation; | |
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