"deCODE genetics, Amgen"[submitter] AND "ENG"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982467	NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)	LOC102723566, ENG (E323* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2574047	NM_001114753.3(ENG):c.991+2T>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 265371	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG (R93*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar