| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | COG7 congenital disorder of glycosylation | |
Click to view in NCBI Gene