| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126807551, SLC6A7 (R568W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (L569F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (R574W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (R587W) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC126807551, SLC6A7 (H607P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (E618K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (E623K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (R626H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (E627G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126807551, SLC6A7 (S634L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene