Related gene-specific medical variations for Gene (Select 2819) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244385	NC_000012.11:g.(?_50497834)_(50497894_?)del	GPD1	Deletion	not provided	GPathogenic
Select item 1184562	NM_005276.4(GPD1):c.219+1_219+3del	GPD1	Microsatellite (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic
Select item 804465	NM_005276.4(GPD1):c.953+1G>A	GPD1	Single nucleotide variant (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic

Format

Sort by

Choose Destination