"Medical Genetic Department, Shiraz University Of Medical Science"[sub - 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 180144	NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	GAA (L299P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 180142	NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)	GAA (G335E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 180143	NM_000152.5(GAA):c.2078dup (p.Ala694fs)	GAA (A694fs)	Duplication (frameshift variant)	not provided	GPathogenic

Format

Sort by

Choose Destination