"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AUH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1444069	NM_001698.3(AUH):c.998C>T (p.Pro333Leu)	AUH (P224L +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 136473	NM_001698.3(AUH):c.927A>G (p.Glu309=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 214148	NM_001698.3(AUH):c.791G>A (p.Gly264Glu)	AUH (G264E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 214146	NM_001698.3(AUH):c.730G>A (p.Asp244Asn)	AUH (D244N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 976619	NM_001698.3(AUH):c.679G>A (p.Ala227Thr)	AUH (A198T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 9056	NM_001698.3(AUH):c.589C>T (p.Arg197Ter)	AUH (R197* +2 more)	Single nucleotide variant (nonsense)	3-methylglutaconic aciduria type 1 +1 more	GPathogenic
Select item 136474	NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)	AUH, LOC130002059 (C26Y)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GBenign

ClinVar