| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EMC1, EMC1-AS1 (F952S +2 more) | Single nucleotide variant (missense variant) | Global developmental delay +2 more | GConflicting classifications of pathogenicity |
| | EMC1, EMC1-AS1 (Y378* +2 more) | Single nucleotide variant (nonsense) | Cerebellar atrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene