Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:43282174-43282177
- GRCh38:
- Chr1:42816503-42816506
| SVBP | K13fs | Microcephaly, Intellectual disability, Lower limb spasticity
| Pathogenic
(Apr 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43282134
- GRCh38:
- Chr1:42816463
| SVBP | Q28* | Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, Microcephaly, Intellectual disability,
Lower limb spasticity, not provided | Pathogenic/Likely pathogenic
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |