| Glut1 Deficiency Syndrome |
C1847501 |
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
2348864, 2710134, 9462754, 10562431, 10980529, 11603379, 16497725, 17489814, 18451999, 18606970, 23890838, 26193382, 28119822 |
ClinVar |
| GLUT1 DEFICIENCY SYNDROME 1 |
C4551966 |
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
2348864, 2710134, 9462754, 10227690, 10562431, 10980529, 11136715, 11603379, 12325075, 15622525, 16497725, 17052934, 18451999, 18577546, 19798636, 19901175, 20129935, 20221955, 20574033, 21555602, 21832227, 22976442, 24847886, 25108116, 25487684, 25982116, 26193382, 27604308, 27725288, 28119822, 30197081 |
ClinVar |
| GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE |
C3149117 |
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
2348864, 2710134, 9335548, 9462754, 10562431, 11076005, 11477212, 16217704, 16497725, 18403583, 18451999, 19630075, 19996082, 20129935, 20221955, 20687207, 21555602, 21832227, 21865127, 22704013, 22976442, 23106342, 23280796, 23340081, 23448551, 24080273, 25487684, 26193382, 26598494, 26615598, 27351150, 28018440, 28119822, 28554332 |
ClinVar |
