C0342727[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 214149	NM_001698.3(AUH):c.824C>T (p.Ala275Val)	AUH (A275V +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +2 more	GPathogenic/Likely pathogenic
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 1345856	NM_001698.3(AUH):c.746A>G (p.Lys249Arg)	AUH (K220R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 128520	NM_001698.3(AUH):c.483A>C (p.Ile161=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 258170	NM_001698.3(AUH):c.331-6G>A	AUH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 547911	NM_001698.3(AUH):c.211A>C (p.Met71Leu)	AUH, LOC130002059 (M71L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
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
Select item 547843	NM_001698.3(AUH):c.44T>A (p.Leu15Gln)	AUH, LOC130002059 (L15Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance