"Fulgent Genetics, Fulgent Genetics"[submitter] AND "UPB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 340925	NM_016327.3(UPB1):c.-27G>C	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 445652	NM_016327.3(UPB1):c.91G>A (p.Gly31Ser)	UPB1 (G31S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4147	NM_016327.3(UPB1):c.105-2A>G	UPB1	Single nucleotide variant (splice acceptor variant)	Deficiency of beta-ureidopropionase +2 more	GPathogenic/Likely pathogenic
Select item 100161	NM_016327.3(UPB1):c.873+9C>T	UPB1	Single nucleotide variant (intron variant)	Deficiency of beta-ureidopropionase +1 more	GBenign/Likely benign
Select item 445946	NM_016327.3(UPB1):c.917-1G>A	UPB1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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

ClinVar