ClinVar for MedGen (Select 1847991) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691732	NM_001312673.2(PCYT1A):c.424G>A (p.Val142Met)	LOC126806932, PCYT1A	Single nucleotide variant (missense variant)	Lipodystrophy, congenital generalized, type 5	GPathogenic
Select item 1004313	NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del)	PCYT1A (E280del)	Microsatellite (inframe deletion)	not provided	GUncertain significance
Select item 942178	NM_001312673.2(PCYT1A):c.996del (p.Ser333fs)	PCYT1A (S333fs)	Deletion (frameshift variant)	not provided	GUncertain significance

Format

Sort by

Choose Destination