NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|not provided
β
β
ββ2026β Residue 172
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|not provided
β
β
ββ2025β Residue 81
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|not provided
β
β
ββ2025β Residue 143
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)Pathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
β
β
ββ2025β Residue 334
NM_006996.3(SLC19A2):c.1223+1G>APathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|Lung cancer
β
β
ββ2025
NM_006996.3(SLC19A2):c.205G>T (p.Val69Phe)Likely pathogenic
not provided
β
β
ββ2025β Residue 69
NM_006996.3(SLC19A2):c.759dup (p.Glu254Ter)Pathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
β
β
ββ2025β Residue 254
NM_006996.3(SLC19A2):c.196G>T (p.Glu66Ter)Pathogenic
not provided|Sensorineural hearing loss disorder
β
β
ββ2025β Residue 66
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|not provided
β
β
ββ2025β Residue 162
NM_006996.3(SLC19A2):c.749G>A (p.Trp250Ter)Pathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
β
β
ββ2025β Residue 250
NM_006996.3(SLC19A2):c.429_432del (p.Tyr144fs)Pathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
β
β
ββ2024β Residue 144
NM_006996.3(SLC19A2):c.1189A>T (p.Arg397Ter)Pathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
β
β
ββ2024β Residue 397
NM_006996.3(SLC19A2):c.807+2T>GLikely pathogenic
not provided|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
β
β
ββ2023
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|not provided
β
β
ββ2023β Residue 105
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|Ear malformation
β
β
ββ2021β Residue 233
NM_006996.3(SLC19A2):c.1134T>G (p.Tyr378Ter)Pathogenic
not provided
β
βββ2026β Residue 378
NM_006996.3(SLC19A2):c.1201_1202del (p.Met401fs)Pathogenic
not provided
β
βββ2025β Residue 401
NM_006996.3(SLC19A2):c.1031-1G>APathogenic
Possible mitochondrial disorder - nuclear genes
β
βββ2025
NM_006996.3(SLC19A2):c.958T>C (p.Trp320Arg)Pathogenic
not provided
β
βββ2025β Residue 320
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)Pathogenic
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|not provided
β
βββ2025β Residue 250