| ClinVar
|
| Risk
|
rs752746786(C;C) rs752746786(G;G) rs752746786(T;T) |
| Alt
|
rs752746786(C;C) rs752746786(G;G) rs752746786(T;T) |
| Reference
|
Rs752746786(A;A) |
| Significance |
Pathogenic |
| Disease |
not provided Inborn genetic diseases Cleft palate Dystonia Growth delay Hypothyroidism Infantile axial hypotonia Intellectual disability Upper limb hypertonia Developmental regression EEG with generalized epileptiform discharges Expressive language delay Failure to thrive Global developmental delay Inability to walk Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus Mental retardation Myelodysplastic syndrome Cortical visual impairment Feeding difficulties Focal seizures with impairment of consciousness or awareness Infantile muscular hypotonia Acute lymphoid leukemia |
| Variation | info |
|---|
| Gene |
GNB1 |
| CLNDBN |
not provided Inborn genetic diseases Cleft palate Dystonia Growth delay Hypothyroidism Infantile axial hypotonia Intellectual disability Upper limb hypertonia Developmental regression EEG with generalized epileptiform discharges Expressive language delay Failure to thrive Global developmental delay Inability to walk Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus Mental retardation, autosomal dominant 42 Myelodysplastic syndrome Cortical visual impairment Feeding difficulties Focal seizures with impairment of consciousness or awareness Infantile muscular hypotonia Acute lymphoid leukemia |
| Reversed |
0 |
| HGVS |
NC_000001.10:g.1737942A>C; NC_000001.10:g.1737942A>G; NC_000001.10:g.1737942A>T |
| CLNSRC |
OMIM Allelic Variant |
| CLNACC |
RCV000439050.1, RCV000190738.1, RCV000208571.1, RCV000210259.1, RCV000225179.2, RCV000225295.2, RCV000418135.1, RCV000210280.1, RCV000225195.2, RCV000225283.2, |
