"Bionano Laboratories"[submitter] AND "EYS"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689064	GRCh37/hg19 6q12(chr6:65603577-65657511)x1	EYS	Copy number loss	not provided	GPathogenic
Select item 688912	GRCh37/hg19 6q12(chr6:65648091-65663089)x1	EYS	Copy number loss	not provided	GPathogenic
Select item 688662	GRCh37/hg19 6q12(chr6:65600602-65657511)x1	EYS	Copy number loss	not provided	GPathogenic
Select item 687801	GRCh37/hg19 6q12(chr6:65348978-66754476)x3	EYS	Copy number gain	not provided	GUncertain significance
Select item 687180	GRCh37/hg19 6q12(chr6:65558549-65955260)x1	EYS	Copy number loss	not provided	GPathogenic
Select item 687093	GRCh37/hg19 6q12(chr6:65518850-65929976)x1	EYS	Copy number loss	not provided	GUncertain significance
Select item 686803	GRCh37/hg19 6q12(chr6:66025395-66225492)x3	EYS	Copy number gain	not provided	GUncertain significance
Select item 686748	GRCh37/hg19 6q12(chr6:65615502-65623157)x1	EYS	Copy number loss	not provided	GUncertain significance
Select item 686649	GRCh37/hg19 6q12(chr6:65614168-65949448)x1	EYS	Copy number loss	not provided	GPathogenic
Select item 686546	GRCh37/hg19 6q12(chr6:65594876-65619513)x3	EYS	Copy number gain	not provided	GUncertain significance
Select item 686239	GRCh37/hg19 6q12(chr6:65611750-65764521)x1	EYS	Copy number loss	not provided	GPathogenic
Select item 685552	GRCh37/hg19 6q12(chr6:64415317-64465162)x3	EYS, PHF3	Copy number gain	not provided	GUncertain significance
Select item 684904	GRCh37/hg19 6q12(chr6:65690292-65840802)x1	EYS	Copy number loss	not provided	GPathogenic