| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130060550, SLC46A1 (P8S) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital defect of folate absorption | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital defect of folate absorption | |
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