ClinVar for Gene (Select 51733) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233897	NM_016327.3(UPB1):c.254del (p.Ala85fs)	UPB1 (A85fs)	Deletion (frameshift variant)	Deficiency of beta-ureidopropionase	GPathogenic
Select item 3186757	NM_016327.3(UPB1):c.757A>G (p.Ile253Val)	UPB1 (I253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186756	NM_016327.3(UPB1):c.41A>G (p.Glu14Gly)	UPB1 (E14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186754	NM_016327.3(UPB1):c.325A>G (p.Met109Val)	UPB1 (M109V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	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 3051810	NM_016327.3(UPB1):c.873C>A (p.Thr291=)	UPB1	Single nucleotide variant (synonymous variant)	UPB1-related disorder	GLikely benign
Select item 3051200	NM_016327.3(UPB1):c.*2C>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	UPB1-related disorder	GLikely benign
Select item 3046492	NM_016327.3(UPB1):c.*4G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	UPB1-related disorder	GLikely benign
Select item 3017661	NM_016327.3(UPB1):c.874G>T (p.Glu292Ter)	UPB1 (E292*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2971816	NM_016327.3(UPB1):c.252C>T (p.Pro84=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957137	NM_016327.3(UPB1):c.365-19C>T	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956871	NM_016327.3(UPB1):c.917-20G>A	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730395	NM_016327.3(UPB1):c.874-12C>T	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725973	NM_016327.3(UPB1):c.771G>A (p.Ser257=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716639	NM_016327.3(UPB1):c.874-9dup	UPB1	Duplication (intron variant)	not provided	GLikely benign
Select item 2713707	NM_016327.3(UPB1):c.707G>A (p.Arg236Gln)	UPB1 (R236Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701779	NM_016327.3(UPB1):c.276+20T>C	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	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 2652999	NM_016327.3(UPB1):c.744C>T (p.Asn248=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652998	NM_016327.3(UPB1):c.364+188T>G	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2601133	NM_016327.3(UPB1):c.303G>C (p.Lys101Asn)	UPB1 (K101N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595306	NM_016327.3(UPB1):c.994C>T (p.Arg332Cys)	UPB1 (R332C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580806	NM_016327.3(UPB1):c.47del (p.His16fs)	UPB1 (H16fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2557161	NM_016327.3(UPB1):c.488T>C (p.Val163Ala)	UPB1 (V163A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544240	NM_016327.3(UPB1):c.206C>G (p.Pro69Arg)	UPB1 (P69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492273	NM_016327.3(UPB1):c.133G>A (p.Glu45Lys)	UPB1 (E45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428263	NM_016327.3(UPB1):c.954T>C (p.Tyr318=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426291	NC_000022.10:g.(?_24829373)_(24921762_?)dup	ADORA2A, UPB1	Duplication	not provided	GUncertain significance
Select item 2418188	NM_016327.3(UPB1):c.543C>T (p.Ala181=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388836	NM_016327.3(UPB1):c.398T>G (p.Leu133Arg)	UPB1 (L133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338718	NM_016327.3(UPB1):c.1097C>T (p.Ala366Val)	UPB1 (A366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264247	NM_016327.3(UPB1):c.641del (p.Gly214fs)	UPB1 (G214fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2236563	NM_016327.3(UPB1):c.464C>G (p.Ala155Gly)	UPB1 (A155G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216815	NM_016327.3(UPB1):c.675C>G (p.Phe225Leu)	UPB1 (F225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208474	NM_016327.3(UPB1):c.1108G>A (p.Ala370Thr)	LOC130067121, UPB1 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191345	NM_016327.3(UPB1):c.863G>A (p.Arg288Gln)	UPB1 (R288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187261	NM_016327.3(UPB1):c.573G>A (p.Leu191=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182774	NM_016327.3(UPB1):c.1077G>A (p.Thr359=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181495	NM_016327.3(UPB1):c.465G>A (p.Ala155=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173567	NM_016327.3(UPB1):c.386C>T (p.Thr129Met)	UPB1 (T129M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173399	NM_016327.3(UPB1):c.185C>T (p.Ala62Val)	UPB1 (A62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170926	NM_016327.3(UPB1):c.807C>T (p.Pro269=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168690	NM_016327.3(UPB1):c.1000C>T (p.Arg334Trp)	UPB1 (R334W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2138423	NM_016327.3(UPB1):c.811G>A (p.Glu271Lys)	UPB1 (E271K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2138422	NM_016327.3(UPB1):c.703G>A (p.Gly235Arg)	UPB1 (G235R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133837	NM_016327.3(UPB1):c.916+6_916+181del	UPB1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2132572	NM_016327.3(UPB1):c.254C>T (p.Ala85Val)	UPB1 (A85V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121100	NM_016327.3(UPB1):c.946T>G (p.Ser316Ala)	UPB1 (S316A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118402	NM_016327.3(UPB1):c.690G>A (p.Val230=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2106961	NM_016327.3(UPB1):c.97del (p.Glu33fs)	UPB1 (E33fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2084685	NM_016327.3(UPB1):c.791+5C>G	UPB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081831	NM_016327.3(UPB1):c.105-6A>G	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076935	NM_016327.3(UPB1):c.62A>T (p.Asp21Val)	UPB1 (D21V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075656	NM_016327.3(UPB1):c.551T>A (p.Ile184Asn)	UPB1 (I184N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073063	NM_016327.3(UPB1):c.460-13A>G	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061556	NM_016327.3(UPB1):c.206C>T (p.Pro69Leu)	UPB1 (P69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016952	NM_016327.3(UPB1):c.859A>T (p.Asn287Tyr)	UPB1 (N287Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016147	NM_016327.3(UPB1):c.472C>T (p.His158Tyr)	UPB1 (H158Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000704	NM_016327.3(UPB1):c.834C>T (p.Ala278=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990759	NM_016327.3(UPB1):c.253G>A (p.Ala85Thr)	UPB1 (A85T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989695	NM_016327.3(UPB1):c.1095C>T (p.Tyr365=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970213	NM_016327.3(UPB1):c.792-3C>T	UPB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1958167	NM_016327.3(UPB1):c.275A>G (p.Gln92Arg)	UPB1 (Q92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939581	NM_016327.3(UPB1):c.193C>T (p.Gln65Ter)	UPB1 (Q65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1939224	NM_016327.3(UPB1):c.1071+6T>C	UPB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1937877	NM_016327.3(UPB1):c.917-15T>G	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936079	NM_016327.3(UPB1):c.291T>C (p.His97=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915883	NM_016327.3(UPB1):c.658G>A (p.Val220Met)	UPB1 (V220M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910953	NM_016327.3(UPB1):c.1110C>T (p.Ala370=)	LOC130067121, UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909730	NM_016327.3(UPB1):c.640G>A (p.Gly214Arg)	UPB1 (G214R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907955	NM_016327.3(UPB1):c.478_480del (p.Met160del)	UPB1 (M160del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1905748	NM_016327.3(UPB1):c.191A>G (p.Glu64Gly)	UPB1 (E64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904948	NM_016327.3(UPB1):c.117G>A (p.Leu39=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899688	NM_016327.3(UPB1):c.539C>T (p.Thr180Ile)	UPB1 (T180I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1899599	NM_016327.3(UPB1):c.208C>T (p.Arg70Cys)	UPB1 (R70C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1899137	NM_016327.3(UPB1):c.916+11T>C	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808423	GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3	ADORA2A, CABIN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	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 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 1647277	NM_016327.3(UPB1):c.917-11T>C	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645182	NM_016327.3(UPB1):c.399T>G (p.Leu133=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627219	NM_016327.3(UPB1):c.9C>T (p.Gly3=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617880	NM_016327.3(UPB1):c.792-16T>C	UPB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1614167	NM_016327.3(UPB1):c.669G>A (p.Thr223=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603846	NM_016327.3(UPB1):c.792-5T>C	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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