"Department of Human Genetics, Hannover Medical School"[submitter] AND - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663888	NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=)	SCN1A	Single nucleotide variant (synonymous variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3234115	NM_001165963.4(SCN1A):c.722T>A (p.Ile241Asn)	SCN1A (I241N)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic