ClinVar for Gene (Select 112937) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281518	NM_001080407.3(GLB1L3):c.460G>A (p.Gly154Arg)	GLB1L3 (G154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281517	NM_001080407.3(GLB1L3):c.173C>T (p.Pro58Leu)	GLB1L3 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281516	NM_001080407.3(GLB1L3):c.1646T>C (p.Met549Thr)	GLB1L3 (M549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281515	NM_001080407.3(GLB1L3):c.1699G>C (p.Asp567His)	GLB1L3 (D567H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281514	NM_001080407.3(GLB1L3):c.581T>C (p.Ile194Thr)	GLB1L3 (I194T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281513	NM_001080407.3(GLB1L3):c.478C>T (p.Arg160Cys)	GLB1L3 (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281512	NM_001080407.3(GLB1L3):c.1634A>G (p.Tyr545Cys)	GLB1L3 (Y545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3100098	NM_001080407.3(GLB1L3):c.922G>A (p.Asp308Asn)	GLB1L3 (D308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100097	NM_001080407.3(GLB1L3):c.831G>T (p.Leu277Phe)	GLB1L3 (L277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100096	NM_001080407.3(GLB1L3):c.799C>T (p.His267Tyr)	GLB1L3 (H267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100095	NM_001080407.3(GLB1L3):c.541G>C (p.Asp181His)	GLB1L3 (D181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100094	NM_001080407.3(GLB1L3):c.383A>G (p.His128Arg)	GLB1L3 (H128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100093	NM_001080407.3(GLB1L3):c.371C>T (p.Pro124Leu)	GLB1L3 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100092	NM_001080407.3(GLB1L3):c.261C>G (p.Phe87Leu)	GLB1L3 (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100091	NM_001080407.3(GLB1L3):c.1955C>T (p.Thr652Met)	GLB1L3 (T652M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100089	NM_001080407.3(GLB1L3):c.191G>C (p.Arg64Pro)	GLB1L3 (R64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100088	NM_001080407.3(GLB1L3):c.1917G>T (p.Met639Ile)	GLB1L3 (M639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100087	NM_001080407.3(GLB1L3):c.1813C>T (p.Arg605Cys)	GLB1L3 (R605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100086	NM_001080407.3(GLB1L3):c.1640T>C (p.Leu547Pro)	GLB1L3 (L547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100085	NM_001080407.3(GLB1L3):c.1330A>G (p.Ile444Val)	GLB1L3 (I444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100084	NM_001080407.3(GLB1L3):c.1250A>G (p.Tyr417Cys)	GLB1L3 (Y417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100083	NM_001080407.3(GLB1L3):c.106G>A (p.Glu36Lys)	GLB1L3 (E36K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063191	GRCh37/hg19 11q25(chr11:132499295-134938470)x1	ACAD8, B3GAT1 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2681298	NM_001080407.3(GLB1L3):c.1725C>T (p.Tyr575=)	GLB1L3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2623075	NM_001080407.3(GLB1L3):c.562A>G (p.Thr188Ala)	GLB1L3 (T188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615091	NM_001080407.3(GLB1L3):c.1606A>G (p.Asn536Asp)	GLB1L3 (N536D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601805	NM_001080407.3(GLB1L3):c.1079C>T (p.Ser360Leu)	GLB1L3 (S360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597227	NM_001080407.3(GLB1L3):c.439G>A (p.Val147Ile)	GLB1L3 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555828	NM_001080407.3(GLB1L3):c.563C>A (p.Thr188Lys)	GLB1L3 (T188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550863	NM_001080407.3(GLB1L3):c.1408C>T (p.His470Tyr)	GLB1L3 (H470Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542148	NM_001080407.3(GLB1L3):c.499A>G (p.Ser167Gly)	GLB1L3 (S167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523770	NM_001080407.3(GLB1L3):c.1508G>A (p.Arg503Gln)	GLB1L3 (R503Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520573	NM_001080407.3(GLB1L3):c.1807A>C (p.Asn603His)	GLB1L3 (N603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2505490	GRCh37/hg19 11q25(chr11:131952484-134938470)x1	NTM, SPATA19 +12 more	Copy number loss	Feeding difficulties +3 more	GPathogenic
Select item 2486203	NM_001080407.3(GLB1L3):c.932G>T (p.Gly311Val)	GLB1L3 (G311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410548	NM_001080407.3(GLB1L3):c.973G>A (p.Ala325Thr)	GLB1L3 (A325T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393295	NM_001080407.3(GLB1L3):c.1814G>A (p.Arg605His)	GLB1L3 (R605H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393158	NM_001080407.3(GLB1L3):c.1808A>G (p.Asn603Ser)	GLB1L3 (N603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391100	NM_001080407.3(GLB1L3):c.1418A>G (p.Asp473Gly)	GLB1L3 (D473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387958	NM_001080407.3(GLB1L3):c.100A>G (p.Lys34Glu)	GLB1L3 (K34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381805	NM_001080407.3(GLB1L3):c.827A>G (p.Asn276Ser)	GLB1L3 (N276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328361	NM_001080407.3(GLB1L3):c.1300C>G (p.Arg434Gly)	GLB1L3 (R434G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309721	NM_001080407.3(GLB1L3):c.1646T>A (p.Met549Lys)	GLB1L3 (M549K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276659	NM_001080407.3(GLB1L3):c.1880A>G (p.His627Arg)	GLB1L3 (H627R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265078	NM_001080407.3(GLB1L3):c.1525G>A (p.Val509Met)	GLB1L3 (V509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260668	NM_001080407.3(GLB1L3):c.1589G>A (p.Gly530Glu)	GLB1L3 (G530E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255500	NM_001080407.3(GLB1L3):c.590T>C (p.Val197Ala)	GLB1L3 (V197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232018	NM_001080407.3(GLB1L3):c.896T>C (p.Ile299Thr)	GLB1L3 (I299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211499	NM_001080407.3(GLB1L3):c.479G>A (p.Arg160His)	GLB1L3 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204223	NM_001080407.3(GLB1L3):c.1637C>G (p.Ser546Cys)	GLB1L3 (S546C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809460	GRCh37/hg19 11q25(chr11:133760907-134938470)x1	ACAD8, B3GAT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808846	GRCh37/hg19 11q25(chr11:133238757-134330730)x3	ACAD8, B3GAT1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1807802	GRCh37/hg19 11q25(chr11:130935635-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711169	GRCh37/hg19 11q25(chr11:130880039-134938470)x3	ACAD8, B3GAT1 +12 more	Copy number gain	See cases	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 979331	GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1	NTM, IGSF9B +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 979329	GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	ETS1, GLB1L3 +30 more	Copy number loss	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815489	GRCh37/hg19 11q25(chr11:134163400-134378532)x3	B3GAT1, GLB1L3 +1 more	Copy number gain	not provided	GLikely benign
Select item 815488	GRCh37/hg19 11q25(chr11:134054327-134200885)x1	ACAD8, THYN1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815487	GRCh37/hg19 11q25(chr11:133841587-134507651)x3	JAM3, GLB1L3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815484	GRCh37/hg19 11q25(chr11:131327161-134938470)x3	NTM, VPS26B +12 more	Copy number gain	not provided	GUncertain significance
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687995	GRCh37/hg19 11q25(chr11:130969272-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625595	GRCh37/hg19 11q25(chr11:133325079-134157243)	ACAD8, GLB1L3 +8 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 563879	GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1	VPS26B, ACAD8 +23 more	Copy number loss	not provided	GPathogenic
Select item 563872	GRCh37/hg19 11q25(chr11:132187876-134938470)x1	B3GAT1, LINC02743 +12 more	Copy number loss	not provided	GPathogenic
Select item 548978	GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1	FOXRED1, ST3GAL4 +39 more	Copy number loss	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 446335	GRCh37/hg19 11q25(chr11:133923605-134934063)x3	ACAD8, B3GAT1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443449	GRCh37/hg19 11q25(chr11:133328654-134177275)x3	ACAD8, GLB1L3 +8 more	Copy number gain	See cases	GLikely benign
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442904	GRCh37/hg19 11q25(chr11:133609389-134938470)x1	ACAD8, B3GAT1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 442788	GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1	ACAD8, ADAMTS15 +32 more	Copy number loss	See cases	GPathogenic
Select item 442570	GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1	ACAD8, ADAMTS15 +22 more	Copy number loss	See cases	GPathogenic
Select item 442287	GRCh37/hg19 11q25(chr11:131426397-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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