C4014371[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445475	NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile)	PGM3 (L480I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 659212	NM_015599.3(PGM3):c.618A>C (p.Arg206Ser)	PGM3 (R125S +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 474999	NM_015599.3(PGM3):c.33A>G (p.Ala11=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GBenign/Likely benign

Format

Sort by

Choose Destination

ClinVar