"GeneDx"[submitter] AND "ELAVL1"[gene] - 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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 1237796	NM_001419.3(ELAVL1):c.656+17C>T	ELAVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182559	NM_001419.3(ELAVL1):c.431-6G>A	ELAVL1	Single nucleotide variant (intron variant)	not provided	GBenign

Format

Sort by

Choose Destination