"Laboratory of Medical Genetics, University of Torino"[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 1802588	NM_001040142.2(SCN2A):c.1871dup (p.Asn624fs)	SCN2A (N624fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1802560	NM_001040142.2(SCN2A):c.3839T>C (p.Leu1280Pro)	SCN2A (L1280P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic