| | LOC129931894, SLC19A2 (L57P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (P51L) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (E50*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (A44T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (A35V) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (P33Q) | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Inversion (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (R26L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC129931894, SLC19A2 (R26H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (V18L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129931894, SLC19A2 (V18M) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | LOC129931894, SLC19A2 (A16del) | Microsatellite (inframe_deletion) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (A11S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129931894, SLC19A2 (P4R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129931894, SLC19A2 (D2G) | Single nucleotide variant (missense variant) | not provided | |