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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Pathogenicity Predictor
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Collapase
Clinical Significance
Likely Pathogenic
(RDDC)
Gene
SCN2A
Variant type
Deleted (CDS/UTR)
Splicing Alteration
Related Disease
Seizures, Benign Familial Infantile, 3
Developmental and Epileptic Encephalopathy 11
Episodic Ataxia, Type 9
West Syndrome
Malignant Migrating Focal Seizures of Infancy
Early Infantile Epileptic Encephalopathy
Benign Familial Infantile Epilepsy
Generalized Epilepsy with Febrile Seizures Plus
Autism
Benign Familial Neonatal Epilepsy
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