"GeneDx"[submitter] AND "LOC130056710"[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 145040	GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GLikely benign
Select item 1295344	NM_144599.5(NIPA1):c.178+111C>G	LOC130056710, NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290056	NM_144599.5(NIPA1):c.178+253G>T	LOC130056710, NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign

Format

Sort by

Choose Destination