"Mendelics"[submitter] AND "UPB1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 803648	NM_016327.3(UPB1):c.47A>C (p.His16Pro)	UPB1 (H16P)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GLikely benign
Select item 225511	NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)	UPB1 (R326Q)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +2 more	GConflicting classifications of pathogenicity