| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EMC1, EMC1-AS1 (P874fs +2 more) | Deletion (frameshift variant) | Congenital anomaly of kidney and urinary tract +1 more | GPathogenic/Likely pathogenic |
| | EMC1, EMC1-AS1 (G868R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | EMC1-AS1, EMC1 (G471R +2 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy, visual impairment, and psychomotor retardation; | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
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