Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr20:62039877
- GRCh38:
- Chr20:63408524
| KCNQ2 | I592M, I561M, I574M, I564M | Benign Rolandic epilepsy | not provided | no assertion provided |
| - GRCh37:
- Chr20:62070963-62070965
- GRCh38:
- Chr20:63439610-63439612
| KCNQ2 | F305del | Early infantile epileptic encephalopathy with suppression bursts, KCNQ2-Related Disorders, not specified,
not provided, Developmental and epileptic encephalopathy, 7, Seizures, benign familial neonatal, 1,
Seizure | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |