"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "EPHX2"[gen - 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 779344	NM_001979.6(EPHX2):c.63C>A (p.Gly21=)	EPHX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 783837	NM_001979.6(EPHX2):c.155G>A (p.Arg52Gln)	EPHX2 (R52Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic

Format

Sort by

Choose Destination