UPB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	IGLV4-3, LINC01659 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	ADORA2A, ADORA2A-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	LOC130067089, LOC130067090 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	LOC130067070, LOC130067071 +124 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	LOC130067107, LOC130067108 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 148096	GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3	ADORA2A, ADORA2A-AS1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 100154	NM_016327.2(UPB1):c.-80C>G	UPB1	Single nucleotide variant	Deficiency of beta-ureidopropionase	GBenign
Select item 900607	NM_016327.2(UPB1):c.-79C>T	UPB1	Single nucleotide variant	Deficiency of beta-ureidopropionase	GUncertain significance
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 340924	NM_016327.3(UPB1):c.-63C>T	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GLikely benign
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 340925	NM_016327.3(UPB1):c.-27G>C	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 100155	NM_016327.3(UPB1):c.-17A>T	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GBenign
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 340927	NM_016327.3(UPB1):c.-7C>G	UPB1	Single nucleotide variant (5 prime UTR variant)	Deficiency of beta-ureidopropionase	GLikely benign
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 1627219	NM_016327.3(UPB1):c.9C>T (p.Gly3=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377152	NM_016327.3(UPB1):c.10G>A (p.Ala4Thr)	UPB1 (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550017	NM_016327.3(UPB1):c.25C>T (p.Leu9=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1028017	NM_016327.3(UPB1):c.38T>C (p.Leu13Ser)	UPB1 (L13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2580806	NM_016327.3(UPB1):c.47del (p.His16fs)	UPB1 (H16fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 1461214	NM_016327.3(UPB1):c.59C>T (p.Pro20Leu)	UPB1 (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 781613	NM_016327.3(UPB1):c.82G>A (p.Val28Ile)	UPB1 (V28I)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GLikely benign
Select item 445652	NM_016327.3(UPB1):c.91G>A (p.Gly31Ser)	UPB1 (G31S)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 2106961	NM_016327.3(UPB1):c.97del (p.Glu33fs)	UPB1 (E33fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 100156	NM_016327.3(UPB1):c.105-61A>G	UPB1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2081831	NM_016327.3(UPB1):c.105-6A>G	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4147	NM_016327.3(UPB1):c.105-2A>G	UPB1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1904948	NM_016327.3(UPB1):c.117G>A (p.Leu39=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413974	NM_016327.3(UPB1):c.127G>A (p.Ala43Thr)	UPB1 (A43T)	Single nucleotide variant (missense variant)	not provided	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 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 100157	NM_016327.3(UPB1):c.143C>G (p.Ser48Cys)	UPB1 (S48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977433	NM_016327.3(UPB1):c.148_149dup (p.Asp51fs)	UPB1 (D51fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
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 1905748	NM_016327.3(UPB1):c.191A>G (p.Glu64Gly)	UPB1 (E64G)	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 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 2544240	NM_016327.3(UPB1):c.206C>G (p.Pro69Arg)	UPB1 (P69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 728249	NM_016327.3(UPB1):c.219C>T (p.His73=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2971816	NM_016327.3(UPB1):c.252C>T (p.Pro84=)	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 2132572	NM_016327.3(UPB1):c.254C>T (p.Ala85Val)	UPB1 (A85V)	Single nucleotide variant (missense variant)	not provided	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 1958167	NM_016327.3(UPB1):c.275A>G (p.Gln92Arg)	UPB1 (Q92R)	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 1936079	NM_016327.3(UPB1):c.291T>C (p.His97=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2601133	NM_016327.3(UPB1):c.303G>C (p.Lys101Asn)	UPB1 (K101N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1581507	NM_016327.3(UPB1):c.309C>T (p.Ile103=)	UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3186754	NM_016327.3(UPB1):c.325A>G (p.Met109Val)	UPB1 (M109V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1071875	NM_016327.3(UPB1):c.352C>T (p.Gln118Ter)	UPB1 (Q118*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1695566	NM_016327.3(UPB1):c.357del (p.Ala120fs)	UPB1 (A120fs)	Deletion (frameshift variant)	not provided	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 1067615	NM_016327.3(UPB1):c.364+1G>C	UPB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 591764	NM_016327.3(UPB1):c.364+1G>A	UPB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1702976	NM_016327.3(UPB1):c.364+6T>G	UPB1	Single nucleotide variant (intron variant)	Deficiency of beta-ureidopropionase	GPathogenic
Select item 2652998	NM_016327.3(UPB1):c.364+188T>G	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 100158	NM_016327.3(UPB1):c.365-67G>A	UPB1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2957137	NM_016327.3(UPB1):c.365-19C>T	UPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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