"GeneDx"[submitter] AND "GFUS"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 1282762	NM_003313.4(GFUS):c.*190C>G	GFUS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1285818	NM_003313.4(GFUS):c.*27C>T	GFUS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1276489	NM_003313.4(GFUS):c.911-41G>A	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258748	NM_003313.4(GFUS):c.910+48C>T	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229700	NM_003313.4(GFUS):c.811-34G>T	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235492	NM_003313.4(GFUS):c.811-101G>A	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262449	NM_003313.4(GFUS):c.730+54T>C	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252520	NM_003313.4(GFUS):c.663+131A>G	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274586	NM_003313.4(GFUS):c.306T>C (p.Phe102=)	GFUS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283720	NM_003313.4(GFUS):c.147-141C>T	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign