| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EMC1, EMC1-AS1 (W696* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene