| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | SLC39A8-CDG | |
| | | Single nucleotide variant (missense variant +1 more) | SLC39A8-CDG | |
| | LOC126807125, SLC39A8 (L366fs +1 more) | Duplication (frameshift variant) | not provided +1 more | |
| | LOC129992876, SLC39A8 (G38R) | Single nucleotide variant (missense variant) | SLC39A8-CDG +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene