| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129388624, LOC129388625 +407 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Microsatellite (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Microsatellite (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Deletion (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Duplication (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 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 | |
| | | 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 (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | 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 (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SLC19A2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |