| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EMC1, EMC1-AS1 (F670L +4 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; +3 more | GConflicting classifications of pathogenicity |
| | EMC1, EMC1-AS1 (W535L +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
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