| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130060550, SLC46A1 (P15L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | SLC46A1, LOC130060550 (P15S) | Single nucleotide variant (missense variant) | Congenital defect of folate absorption +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130060550, SLC46A1 (A13P) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130060550, SLC46A1 (E9fs) | Duplication (frameshift variant) | Congenital defect of folate absorption | |
| | SLC46A1, LOC130060550 (P8L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130060550, SLC46A1 (P8S) | Single nucleotide variant (missense variant) | Congenital defect of folate absorption +3 more | GConflicting classifications of pathogenicity |
| | LOC130060550, SLC46A1 (P7H) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130060550, SLC46A1 (P7A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC130060550, SLC46A1 (S4N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SLC46A1-related disorder | |
| | LOC130060550, SLC46A1 (M1I) | Single nucleotide variant (missense variant +1 more) | Congenital defect of folate absorption +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital defect of folate absorption | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital defect of folate absorption | |