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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028017	NM_016327.3(UPB1):c.38T>C (p.Leu13Ser)	UPB1 (L13S)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +2 more	GConflicting classifications of pathogenicity
Select item 2580806	NM_016327.3(UPB1):c.47del (p.His16fs)	UPB1 (H16fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 977433	NM_016327.3(UPB1):c.148_149dup (p.Asp51fs)	UPB1 (D51fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1695566	NM_016327.3(UPB1):c.357del (p.Ala120fs)	UPB1 (A120fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1695565	NM_016327.3(UPB1):c.506G>A (p.Arg169Gln)	UPB1 (R169Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543791	NM_016327.3(UPB1):c.770C>T (p.Ser257Leu)	UPB1 (S257L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 900674	NM_016327.3(UPB1):c.792C>T (p.Ser264=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GUncertain significance
Select item 1307807	NM_016327.3(UPB1):c.807del (p.Ile270fs)	UPB1 (I270fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 452825	NM_016327.3(UPB1):c.814G>A (p.Ala272Thr)	UPB1 (A272T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208542	NM_016327.3(UPB1):c.873+2dup	UPB1	Duplication (splice donor variant)	not specified +1 more	GUncertain significance
Select item 280025	NM_016327.3(UPB1):c.873+1G>A	UPB1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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
Select item 430504	NM_016327.3(UPB1):c.985G>T (p.Gly329Trp)	UPB1 (G329W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1702978	NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile)	UPB1 (N345I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662306	NM_016327.3(UPB1):c.1042C>T (p.Gln348Ter)	UPB1 (Q348*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253500	GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3	ADORA2A, SPECC1L +8 more	Copy number gain	See cases	GPathogenic
Select item 253485	GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3	GSTT2B, VPREB3 +32 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253435	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3	RSPH14, SNRPD3 +29 more	Copy number gain	See cases	GPathogenic
Select item 3359510	NM_016327.3(UPB1):c.307A>C (p.Ile103Leu)	UPB1 (I103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 23