| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862918, SLC1A5 (P193S) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | LOC130064780, SLC1A5 (R98H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064781, SLC1A5 (S73A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064781, SLC1A5 (V63G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
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