ClinVar for MedGen (Select 226944) - ClinVar

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Items: 73

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26272971.	NM_016327.3(UPB1):c.670C>T (p.Gln224Ter) GRCh37: Chr22:24911217 GRCh38: Chr22:24515249	UPB1	Q224*	Deficiency of beta-ureidopropionase	Pathogenic (Sep 21, 2023)	criteria provided, single submitter
Select item 17029802.	NM_016327.3(UPB1):c.916+1_916+2dup GRCh37: Chr22:24917996-24917997 GRCh38: Chr22:24522028-24522029	UPB1		Deficiency of beta-ureidopropionase	Pathogenic (Apr 17, 2023)	no assertion criteria provided
Select item 17029783.	NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile) GRCh37: Chr22:24919704 GRCh38: Chr22:24523736	UPB1	N345I	not provided	Likely pathogenic (Mar 21, 2023)	criteria provided, single submitter
Select item 17029764.	NM_016327.3(UPB1):c.364+6T>G GRCh37: Chr22:24898187 GRCh38: Chr22:24502219	UPB1		Deficiency of beta-ureidopropionase	Pathogenic (Apr 17, 2023)	no assertion criteria provided
Select item 13425125.	NM_016327.3(UPB1):c.732G>A (p.Met244Ile) GRCh37: Chr22:24911279 GRCh38: Chr22:24515311	UPB1	M244I	Deficiency of beta-ureidopropionase	Uncertain significance (Apr 22, 2021)	criteria provided, single submitter
Select item 13017406.	NM_016327.3(UPB1):c.5C>G (p.Ala2Gly) GRCh37: Chr22:24891376 GRCh38: Chr22:24495408	UPB1	A2G	Deficiency of beta-ureidopropionase	Uncertain significance (Feb 18, 2020)	criteria provided, single submitter
Select item 10280177.	NM_016327.3(UPB1):c.38T>C (p.Leu13Ser) GRCh37: Chr22:24891409 GRCh38: Chr22:24495441	UPB1	L13S	not provided, Deficiency of beta-ureidopropionase, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 17, 2021)	criteria provided, conflicting interpretations
Select item 9734708.	NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) GRCh37: Chr22:24898175 GRCh38: Chr22:24502207	UPB1	A120S	not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 9032239.	NM_016327.3(UPB1):c.*356G>A GRCh37: Chr22:24922118 GRCh38: Chr22:24526150	UPB1		Deficiency of beta-ureidopropionase	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90322210.	NM_016327.3(UPB1):c.*179A>C GRCh37: Chr22:24921941 GRCh38: Chr22:24525973	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 90322111.	NM_016327.3(UPB1):c.*93A>G GRCh37: Chr22:24921855 GRCh38: Chr22:24525887	LOC130067121, UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90322012.	NM_016327.3(UPB1):c.*10G>A GRCh37: Chr22:24921772 GRCh38: Chr22:24525804	LOC130067121, UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90321913.	NM_016327.3(UPB1):c.*3G>A GRCh37: Chr22:24921765 GRCh38: Chr22:24525797	LOC130067121, UPB1		Deficiency of beta-ureidopropionase	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90316014.	NM_016327.3(UPB1):c.310G>A (p.Val104Ile) GRCh37: Chr22:24898127 GRCh38: Chr22:24502159	UPB1	V104I	Inborn genetic diseases, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Apr 27, 2022)	criteria provided, conflicting interpretations
Select item 90315915.	NM_016327.3(UPB1):c.225G>T (p.Gly75=) GRCh37: Chr22:24896195 GRCh38: Chr22:24500227	UPB1		not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Jun 19, 2022)	criteria provided, conflicting interpretations
Select item 90315816.	NM_016327.3(UPB1):c.203G>A (p.Arg68Gln) GRCh37: Chr22:24896173 GRCh38: Chr22:24500205	UPB1	R68Q	Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90235817.	NM_016327.3(UPB1):c.1092G>A (p.Met364Ile) GRCh37: Chr22:24921699 GRCh38: Chr22:24525731	UPB1	M364I	Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90235718.	NM_016327.3(UPB1):c.1071+10C>T GRCh37: Chr22:24919751 GRCh38: Chr22:24523783	UPB1		not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 90235619.	NM_016327.3(UPB1):c.1027G>A (p.Asp343Asn) GRCh37: Chr22:24919697 GRCh38: Chr22:24523729	UPB1	D343N	Deficiency of beta-ureidopropionase	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 90229020.	NM_016327.3(UPB1):c.54G>A (p.Pro18=) GRCh37: Chr22:24891425 GRCh38: Chr22:24495457	UPB1		Deficiency of beta-ureidopropionase, not provided	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 90228921.	NM_016327.3(UPB1):c.-61C>T GRCh37: Chr22:24891311 GRCh38: Chr22:24495343	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90067622.	NM_016327.3(UPB1):c.903A>G (p.Gly301=) GRCh37: Chr22:24917983 GRCh38: Chr22:24522015	UPB1		Deficiency of beta-ureidopropionase, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 90067523.	NM_016327.3(UPB1):c.822C>T (p.Asn274=) GRCh37: Chr22:24916385 GRCh38: Chr22:24520417	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90067424.	NM_016327.3(UPB1):c.792C>T (p.Ser264=) GRCh37: Chr22:24916355 GRCh38: Chr22:24520387	UPB1		Deficiency of beta-ureidopropionase, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90060725.	NM_016327.2(UPB1):c.-79C>T GRCh37: Chr22:24891293 GRCh38: Chr22:24495325	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89961626.	NM_016327.3(UPB1):c.*549A>C GRCh37: Chr22:24922311 GRCh38: Chr22:24526343	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89954027.	NM_016327.3(UPB1):c.684C>T (p.Ile228=) GRCh37: Chr22:24911231 GRCh38: Chr22:24515263	UPB1		Deficiency of beta-ureidopropionase, not provided	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 89953928.	NM_016327.3(UPB1):c.676G>A (p.Gly226Arg) GRCh37: Chr22:24911223 GRCh38: Chr22:24515255	UPB1	G226R	Deficiency of beta-ureidopropionase, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89953829.	NM_016327.3(UPB1):c.387G>A (p.Thr129=) GRCh37: Chr22:24906739 GRCh38: Chr22:24510771	UPB1		Deficiency of beta-ureidopropionase, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 80364830.	NM_016327.3(UPB1):c.47A>C (p.His16Pro) GRCh37: Chr22:24891418 GRCh38: Chr22:24495450	UPB1	H16P	Deficiency of beta-ureidopropionase	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 78936031.	NM_016327.3(UPB1):c.1107C>T (p.Leu369=) GRCh37: Chr22:24921714 GRCh38: Chr22:24525746	LOC130067121, UPB1		not provided, Deficiency of beta-ureidopropionase	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 78161332.	NM_016327.3(UPB1):c.82G>A (p.Val28Ile) GRCh37: Chr22:24891453 GRCh38: Chr22:24495485	UPB1	V28I	not provided, Deficiency of beta-ureidopropionase	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77178633.	NM_016327.3(UPB1):c.1086T>C (p.Tyr362=) GRCh37: Chr22:24921693 GRCh38: Chr22:24525725	UPB1		Deficiency of beta-ureidopropionase, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63188634.	NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) GRCh37: Chr22:24916355 GRCh38: Chr22:24520387	UPB1	S264R	not provided, Deficiency of beta-ureidopropionase	Uncertain significance (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54855835.	NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly) GRCh37: Chr22:24921706 GRCh38: Chr22:24525738	UPB1	R367G	Deficiency of beta-ureidopropionase	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 44594636.	NM_016327.3(UPB1):c.917-1G>A GRCh37: Chr22:24919586 GRCh38: Chr22:24523618	UPB1		UPB1-related condition, not provided, Deficiency of beta-ureidopropionase, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 30, 2023)	criteria provided, conflicting interpretations
Select item 44565237.	NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) GRCh37: Chr22:24891462 GRCh38: Chr22:24495494	UPB1	G31S	not provided, Deficiency of beta-ureidopropionase	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34094638.	NM_016327.3(UPB1):c.*690T>G GRCh37: Chr22:24922452 GRCh38: Chr22:24526484	UPB1		Deficiency of beta-ureidopropionase	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34094539.	NM_016327.3(UPB1):c.*652A>T GRCh37: Chr22:24922414 GRCh38: Chr22:24526446	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34094440.	NM_016327.3(UPB1):c.*619C>T GRCh37: Chr22:24922381 GRCh38: Chr22:24526413	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34094341.	NM_016327.3(UPB1):c.*548AAGT[1] GRCh37: Chr22:24922309-24922312 GRCh38: Chr22:24526341-24526344	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34094242.	NM_016327.3(UPB1):c.*505A>G GRCh37: Chr22:24922267 GRCh38: Chr22:24526299	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34094143.	NM_016327.3(UPB1):c.*398G>C GRCh37: Chr22:24922160 GRCh38: Chr22:24526192	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34094044.	NM_016327.3(UPB1):c.*296dup GRCh37: Chr22:24922047-24922048 GRCh38: Chr22:24526079-24526080	UPB1		Deficiency of beta-ureidopropionase	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34093945.	NM_016327.3(UPB1):c.*23G>A GRCh37: Chr22:24921785 GRCh38: Chr22:24525817	LOC130067121, UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34093846.	NM_016327.3(UPB1):c.1122G>A (p.Lys374=) GRCh37: Chr22:24921729 GRCh38: Chr22:24525761	LOC130067121, UPB1		not provided, Deficiency of beta-ureidopropionase	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34093747.	NM_016327.3(UPB1):c.1026C>T (p.Leu342=) GRCh37: Chr22:24919696 GRCh38: Chr22:24523728	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34093648.	NM_016327.3(UPB1):c.899C>T (p.Ser300Leu) GRCh37: Chr22:24917979 GRCh38: Chr22:24522011	UPB1	S300L	Deficiency of beta-ureidopropionase, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34093549.	NM_016327.3(UPB1):c.889G>A (p.Glu297Lys) GRCh37: Chr22:24917969 GRCh38: Chr22:24522001	UPB1	E297K	Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34093450.	NM_016327.3(UPB1):c.514G>A (p.Glu172Lys) GRCh37: Chr22:24909346 GRCh38: Chr22:24513378	UPB1	E172K	not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 34093351.	NM_016327.3(UPB1):c.464C>T (p.Ala155Val) GRCh37: Chr22:24909296 GRCh38: Chr22:24513328	UPB1	A155V	Deficiency of beta-ureidopropionase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34093252.	NM_016327.3(UPB1):c.384T>C (p.Cys128=) GRCh37: Chr22:24906736 GRCh38: Chr22:24510768	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34093153.	NM_016327.3(UPB1):c.354G>A (p.Gln118=) GRCh37: Chr22:24898171 GRCh38: Chr22:24502203	UPB1		not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 34093054.	NM_016327.3(UPB1):c.296G>A (p.Arg99His) GRCh37: Chr22:24898113 GRCh38: Chr22:24502145	UPB1	R99H	Deficiency of beta-ureidopropionase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34092955.	NM_016327.3(UPB1):c.142T>C (p.Ser48Pro) GRCh37: Chr22:24896112 GRCh38: Chr22:24500144	UPB1	S48P	Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34092856.	NM_016327.3(UPB1):c.26T>C (p.Leu9Pro) GRCh37: Chr22:24891397 GRCh38: Chr22:24495429	UPB1	L9P	not provided, Deficiency of beta-ureidopropionase	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34092757.	NM_016327.3(UPB1):c.-7C>G GRCh37: Chr22:24891365 GRCh38: Chr22:24495397	UPB1		Deficiency of beta-ureidopropionase	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34092658.	NM_016327.3(UPB1):c.-11G>A GRCh37: Chr22:24891361 GRCh38: Chr22:24495393	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34092559.	NM_016327.3(UPB1):c.-27G>C GRCh37: Chr22:24891345 GRCh38: Chr22:24495377	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34092460.	NM_016327.3(UPB1):c.-63C>T GRCh37: Chr22:24891309 GRCh38: Chr22:24495341	UPB1		Deficiency of beta-ureidopropionase	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34092361.	NM_016327.3(UPB1):c.-65T>C GRCh37: Chr22:24891307 GRCh38: Chr22:24495339	UPB1		Deficiency of beta-ureidopropionase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28002562.	NM_016327.3(UPB1):c.873+1G>A GRCh37: Chr22:24916437 GRCh38: Chr22:24520469	UPB1		not provided, Deficiency of beta-ureidopropionase	Pathogenic/Likely pathogenic (Jun 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22551163.	NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) GRCh37: Chr22:24919647 GRCh38: Chr22:24523679	UPB1	R326Q	not provided, not specified, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Jun 19, 2023)	criteria provided, conflicting interpretations
Select item 10016464.	NM_016327.3(UPB1):c.976C>A (p.Arg326=) GRCh37: Chr22:24919646 GRCh38: Chr22:24523678	UPB1		not provided, Deficiency of beta-ureidopropionase	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10016365.	NM_016327.3(UPB1):c.957G>A (p.Val319=) GRCh37: Chr22:24919627 GRCh38: Chr22:24523659	UPB1		not provided, Deficiency of beta-ureidopropionase	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10016166.	NM_016327.3(UPB1):c.873+9C>T GRCh37: Chr22:24916445 GRCh38: Chr22:24520477	UPB1		not provided, Deficiency of beta-ureidopropionase	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10016067.	NM_016327.3(UPB1):c.846C>T (p.Phe282=) GRCh37: Chr22:24916409 GRCh38: Chr22:24520441	UPB1		not provided, Deficiency of beta-ureidopropionase	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10015968.	NM_016327.3(UPB1):c.702C>T (p.Tyr234=) GRCh37: Chr22:24911249 GRCh38: Chr22:24515281	UPB1		not provided, Deficiency of beta-ureidopropionase	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10015569.	NM_016327.3(UPB1):c.-17A>T GRCh37: Chr22:24891355 GRCh38: Chr22:24495387	UPB1		Deficiency of beta-ureidopropionase	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 10015470.	NM_016327.2(UPB1):c.-80C>G GRCh37: Chr22:24891292 GRCh38: Chr22:24495324	UPB1		Deficiency of beta-ureidopropionase	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 415071.	NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) GRCh37: Chr22:24896179 GRCh38: Chr22:24500211	UPB1	R70P	Deficiency of beta-ureidopropionase	Uncertain significance (Nov 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 414972.	NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) GRCh37: Chr22:24896224 GRCh38: Chr22:24500256	UPB1	A85E	not specified, not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 414773.	NM_016327.3(UPB1):c.105-2A>G GRCh37: Chr22:24896073 GRCh38: Chr22:24500105	UPB1		Inborn genetic diseases, not provided, Deficiency of beta-ureidopropionase	Conflicting interpretations of pathogenicity (Jul 12, 2023)	criteria provided, conflicting interpretations

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Items: 73