| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126807125, SLC39A8 (C307S +1 more) | Single nucleotide variant (missense variant) | SLC39A8-CDG | |
| | LOC126807125, SLC39A8 (C342* +1 more) | Single nucleotide variant (nonsense) | SLC39A8-CDG | |
| | LOC126807125, SLC39A8 (I273M +1 more) | Single nucleotide variant (missense variant) | SLC39A8-CDG | |
| | LOC126807125, SLC39A8 (I255T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126807125, SLC39A8 (T241M +1 more) | Single nucleotide variant (missense variant) | SLC39A8-CDG | |
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