| | | Indel (frameshift variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | LOC129931894, SLC19A2 (A16del) | Microsatellite (inframe_deletion) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | LOC129931894, SLC19A2 (A35V) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Ear malformation +1 more | |
| | LOC129931894, SLC19A2 (F42V) | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous 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) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant +1 more) | 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) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous 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) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +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 (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | SLC19A2, LOC129931894 (T22fs) | Deletion (frameshift variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Deletion (intron variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | SLC19A2, LOC129931894 (P4S) | Single nucleotide variant (missense variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Duplication (intron variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Duplication (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 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) | 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) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Duplication (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Deletion (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided +2 more | |
| | | Microsatellite (3 prime UTR variant) | Thiamine-responsive megaloblastic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Thiamine-responsive megaloblastic anemia +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Thiamine-responsive megaloblastic anemia +3 more | |
| | LOC129931894, SLC19A2 (P51L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Deletion (frameshift variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Duplication (nonsense +1 more) | not provided | |
| | | Microsatellite (frameshift variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Deletion (frameshift variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |