| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | EMC1, EMC1-AS1 (W498R +4 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more | |
| | EMC1, EMC1-AS1 (L273S +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
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