| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SLC6A19-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neutral 1 amino acid transport defect | |
| | | Single nucleotide variant (missense variant) | Neutral 1 amino acid transport defect | |
Click to view in NCBI Gene