"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214144	NM_001698.3(AUH):c.182C>A (p.Pro61His)	AUH, LOC130002059 (P61H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 214141	NM_001698.3(AUH):c.20C>T (p.Ala7Val)	AUH, LOC130002059 (A7V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GConflicting classifications of pathogenicity