ClinVar for MedGen (Select 226944) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336289	NC_000022.10:g.(?_24891299)_(24898182_24906716)del	UPB1	Deletion	Deficiency of beta-ureidopropionase	GPathogenic
Select item 3233897	NM_016327.3(UPB1):c.254del (p.Ala85fs)	UPB1 (A85fs)	Deletion (frameshift variant)	Deficiency of beta-ureidopropionase	GPathogenic
Select item 3065964	NM_016327.3(UPB1):c.505C>T (p.Arg169Ter)	UPB1 (R169*)	Single nucleotide variant (nonsense)	Deficiency of beta-ureidopropionase	GLikely pathogenic
Select item 2713707	NM_016327.3(UPB1):c.707G>A (p.Arg236Gln)	UPB1 (R236Q)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GUncertain significance
Select item 2627297	NM_016327.3(UPB1):c.670C>T (p.Gln224Ter)	UPB1 (Q224*)	Single nucleotide variant (nonsense)	Deficiency of beta-ureidopropionase	GPathogenic
Select item 1702980	NM_016327.3(UPB1):c.916+1_916+2dup	UPB1	Duplication (splice donor variant)	Deficiency of beta-ureidopropionase	GPathogenic
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 1702976	NM_016327.3(UPB1):c.364+6T>G	UPB1	Single nucleotide variant (intron variant)	Deficiency of beta-ureidopropionase	GPathogenic
Select item 1342512	NM_016327.3(UPB1):c.732G>A (p.Met244Ile)	UPB1 (M244I)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GUncertain significance
Select item 1301740	NM_016327.3(UPB1):c.5C>G (p.Ala2Gly)	UPB1 (A2G)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
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 973470	NM_016327.3(UPB1):c.358G>T (p.Ala120Ser)	UPB1 (A120S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903223	NM_016327.3(UPB1):c.*356G>A	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GLikely benign
Select item 903222	NM_016327.3(UPB1):c.*179A>C	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 903221	NM_016327.3(UPB1):c.*93A>G	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 903220	NM_016327.3(UPB1):c.*10G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 903219	NM_016327.3(UPB1):c.*3G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GBenign
Select item 903160	NM_016327.3(UPB1):c.310G>A (p.Val104Ile)	UPB1 (V104I)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 903159	NM_016327.3(UPB1):c.225G>T (p.Gly75=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 903158	NM_016327.3(UPB1):c.203G>A (p.Arg68Gln)	UPB1 (R68Q)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 902358	NM_016327.3(UPB1):c.1092G>A (p.Met364Ile)	UPB1 (M364I)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 902357	NM_016327.3(UPB1):c.1071+10C>T	UPB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902356	NM_016327.3(UPB1):c.1027G>A (p.Asp343Asn)	UPB1 (D343N)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 902290	NM_016327.3(UPB1):c.54G>A (p.Pro18=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 902289	NM_016327.3(UPB1):c.-61C>T	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 900676	NM_016327.3(UPB1):c.903A>G (p.Gly301=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 900675	NM_016327.3(UPB1):c.822C>T (p.Asn274=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase	GUncertain significance
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 900607	NM_016327.2(UPB1):c.-79C>T	UPB1	Single nucleotide variant	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 899616	NM_016327.3(UPB1):c.*549A>C	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 899540	NM_016327.3(UPB1):c.684C>T (p.Ile228=)	UPB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899539	NM_016327.3(UPB1):c.676G>A (p.Gly226Arg)	UPB1 (G226R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899538	NM_016327.3(UPB1):c.387G>A (p.Thr129=)	UPB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 789360	NM_016327.3(UPB1):c.1107C>T (p.Leu369=)	LOC130067121, UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GBenign/Likely benign
Select item 781613	NM_016327.3(UPB1):c.82G>A (p.Val28Ile)	UPB1 (V28I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 771786	NM_016327.3(UPB1):c.1086T>C (p.Tyr362=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GBenign
Select item 631886	NM_016327.3(UPB1):c.792C>A (p.Ser264Arg)	UPB1 (S264R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548558	NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly)	UPB1 (R367G)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
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 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 340946	NM_016327.3(UPB1):c.*690T>G	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase +1 more	GBenign
Select item 340945	NM_016327.3(UPB1):c.*652A>T	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340944	NM_016327.3(UPB1):c.*619C>T	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340943	NM_016327.3(UPB1):c.*548AAGT[1]	UPB1	Microsatellite (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340942	NM_016327.3(UPB1):c.*505A>G	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340941	NM_016327.3(UPB1):c.*398G>C	UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340940	NM_016327.3(UPB1):c.*296dup	UPB1	Duplication (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GBenign
Select item 340939	NM_016327.3(UPB1):c.*23G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340938	NM_016327.3(UPB1):c.1122G>A (p.Lys374=)	UPB1, LOC130067121	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340937	NM_016327.3(UPB1):c.1026C>T (p.Leu342=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340936	NM_016327.3(UPB1):c.899C>T (p.Ser300Leu)	UPB1 (S300L)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GUncertain significance
Select item 340935	NM_016327.3(UPB1):c.889G>A (p.Glu297Lys)	UPB1 (E297K)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340934	NM_016327.3(UPB1):c.514G>A (p.Glu172Lys)	UPB1 (E172K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 340933	NM_016327.3(UPB1):c.464C>T (p.Ala155Val)	UPB1 (A155V)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340932	NM_016327.3(UPB1):c.384T>C (p.Cys128=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340931	NM_016327.3(UPB1):c.354G>A (p.Gln118=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 340930	NM_016327.3(UPB1):c.296G>A (p.Arg99His)	UPB1 (R99H)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340929	NM_016327.3(UPB1):c.142T>C (p.Ser48Pro)	UPB1 (S48P)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340928	NM_016327.3(UPB1):c.26T>C (p.Leu9Pro)	UPB1 (L9P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 340927	NM_016327.3(UPB1):c.-7C>G	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GLikely benign
Select item 340926	NM_016327.3(UPB1):c.-11G>A	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
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 340924	NM_016327.3(UPB1):c.-63C>T	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GLikely benign
Select item 340923	NM_016327.3(UPB1):c.-65T>C	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	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 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 100164	NM_016327.3(UPB1):c.976C>A (p.Arg326=)	UPB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 100163	NM_016327.3(UPB1):c.957G>A (p.Val319=)	UPB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 100160	NM_016327.3(UPB1):c.846C>T (p.Phe282=)	UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GBenign
Select item 100159	NM_016327.3(UPB1):c.702C>T (p.Tyr234=)	UPB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 100155	NM_016327.3(UPB1):c.-17A>T	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase +1 more	GBenign
Select item 100154	NC_000022.11:g.24495324C>G	UPB1	Single nucleotide variant	Deficiency of beta-ureidopropionase +1 more	GBenign
Select item 4150	NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)	UPB1 (R70P)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 4149	NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)	UPB1 (A85E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 4147	NM_016327.3(UPB1):c.105-2A>G	UPB1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 77