URI1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	LOC130064198, LOC132090533 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 208948	NM_001252641.2(URI1):c.33C>A (p.His11Gln)	URI1 (H11Q)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 2408140	NM_003796.3(URI1):c.85G>A (p.Asp29Asn)	LOC130064143, URI1 (D29N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2649668	NM_003796.3(URI1):c.102C>G (p.Arg34=)	LOC130064143, URI1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2296275	NM_003796.3(URI1):c.173A>G (p.Tyr58Cys)	URI1 (Y40C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2649669	NM_003796.3(URI1):c.243C>T (p.Gly81=)	URI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 746812	NM_003796.3(URI1):c.303G>C (p.Gly101=)	URI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748433	NM_003796.3(URI1):c.333G>A (p.Lys111=)	URI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2465473	NM_003796.3(URI1):c.374G>A (p.Arg125Lys)	URI1 (R107K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327803	NM_003796.3(URI1):c.469G>T (p.Asp157Tyr)	URI1 (D139Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470184	NM_003796.3(URI1):c.485G>A (p.Arg162Gln)	URI1 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235906	NM_003796.3(URI1):c.590A>G (p.Asn197Ser)	URI1 (N179S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476310	NM_003796.3(URI1):c.669G>C (p.Leu223Phe)	URI1 (L205F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 208949	NM_003796.3(URI1):c.698C>T (p.Thr233Ile)	URI1 (T215I +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 2649670	NM_003796.3(URI1):c.771G>A (p.Ala257=)	URI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2317519	NM_003796.3(URI1):c.866C>T (p.Ser289Leu)	URI1 (S289L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391189	NM_003796.3(URI1):c.874G>A (p.Gly292Ser)	URI1 (G292S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024954	NM_003796.3(URI1):c.921C>T (p.Asp307=)	URI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649671	NM_003796.3(URI1):c.931G>A (p.Asp311Asn)	URI1 (D293N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2325357	NM_003796.3(URI1):c.938T>A (p.Ile313Asn)	URI1 (I295N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222609	NM_003796.3(URI1):c.970G>C (p.Ala324Pro)	URI1 (A306P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614023	NM_003796.3(URI1):c.1013C>T (p.Ser338Leu)	URI1 (S320L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339379	NM_003796.3(URI1):c.1345A>C (p.Ser449Arg)	URI1 (S431R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409544	NM_003796.3(URI1):c.1377A>C (p.Glu459Asp)	URI1 (E459D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782967	NM_003796.3(URI1):c.1461A>G (p.Val487=)	URI1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2491579	NM_003796.3(URI1):c.1516C>G (p.Pro506Ala)	URI1 (P506A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980759	GRCh37/hg19 19q12(chr19:29739728-31053524)x3	C19orf12, CCNE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686994	GRCh37/hg19 19q12(chr19:30422224-30902373)x1	URI1, ZNF536	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564604	GRCh37/hg19 19q12(chr19:29083484-31804809)x3	VSTM2B, ZNF536 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443316	GRCh37/hg19 19q12(chr19:30112378-31939682)x3	C19orf12, CCNE1 +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 442775	GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	URI1, VSTM2B +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 41