ClinVar for Gene (Select 11095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3078480	NM_007037.6(ADAMTS8):c.772A>G (p.Ser258Gly)	ADAMTS8 (S258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078477	NM_007037.6(ADAMTS8):c.740T>C (p.Met247Thr)	ADAMTS8 (M247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078467	NM_007037.6(ADAMTS8):c.706G>A (p.Gly236Arg)	ADAMTS8 (G236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078461	NM_007037.6(ADAMTS8):c.572A>C (p.Gln191Pro)	ADAMTS8 (Q191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078450	NM_007037.6(ADAMTS8):c.553G>A (p.Asp185Asn)	ADAMTS8 (D185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078435	NM_007037.6(ADAMTS8):c.35C>T (p.Pro12Leu)	ADAMTS8 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078427	NM_007037.6(ADAMTS8):c.2569G>C (p.Val857Leu)	ADAMTS8 (V857L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078418	NM_007037.6(ADAMTS8):c.2551G>A (p.Gly851Ser)	ADAMTS8 (G851S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078415	NM_007037.6(ADAMTS8):c.254G>C (p.Gly85Ala)	ADAMTS8 (G85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078412	NM_007037.6(ADAMTS8):c.2523G>C (p.Trp841Cys)	ADAMTS8 (W841C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078405	NM_007037.6(ADAMTS8):c.2324G>A (p.Arg775His)	ADAMTS8 (R775H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078380	NM_007037.6(ADAMTS8):c.1915G>A (p.Glu639Lys)	ADAMTS8 (E639K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078363	NM_007037.6(ADAMTS8):c.1650C>A (p.His550Gln)	ADAMTS8 (H550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078359	NM_007037.6(ADAMTS8):c.1513C>T (p.His505Tyr)	ADAMTS8 (H505Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078356	NM_007037.6(ADAMTS8):c.1504G>A (p.Gly502Arg)	ADAMTS8 (G502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078355	NM_007037.6(ADAMTS8):c.1499C>T (p.Pro500Leu)	ADAMTS8 (P500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078354	NM_007037.6(ADAMTS8):c.146G>A (p.Ser49Asn)	ADAMTS8 (S49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078349	NM_007037.6(ADAMTS8):c.1400C>G (p.Ser467Cys)	ADAMTS8 (S467C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078347	NM_007037.6(ADAMTS8):c.13C>T (p.Pro5Ser)	ADAMTS8 (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078336	NM_007037.6(ADAMTS8):c.1258G>A (p.Gly420Arg)	ADAMTS8 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078321	NM_007037.6(ADAMTS8):c.1003G>A (p.Ala335Thr)	ADAMTS8 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063223	GRCh37/hg19 11q24.3(chr11:129963003-130520740)x3	ADAMTS15, ADAMTS8 +3 more	Copy number gain	not specified	GUncertain significance
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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642546	NM_007037.6(ADAMTS8):c.1449G>A (p.Glu483=)	ADAMTS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624050	NM_007037.6(ADAMTS8):c.2564G>A (p.Arg855Gln)	ADAMTS8 (R855Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623569	NM_007037.6(ADAMTS8):c.463C>T (p.Pro155Ser)	ADAMTS8 (P155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600110	NM_007037.6(ADAMTS8):c.712G>A (p.Asp238Asn)	ADAMTS8 (D238N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596365	NM_007037.6(ADAMTS8):c.1454T>G (p.Leu485Arg)	ADAMTS8 (L485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553478	NM_007037.6(ADAMTS8):c.2297A>G (p.Tyr766Cys)	ADAMTS8 (Y766C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552174	NM_007037.6(ADAMTS8):c.224T>A (p.Leu75Gln)	ADAMTS8 (L75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543716	NM_007037.6(ADAMTS8):c.1463C>T (p.Thr488Met)	ADAMTS8 (T488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537161	NM_007037.6(ADAMTS8):c.104G>A (p.Gly35Glu)	ADAMTS8 (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521396	NM_007037.6(ADAMTS8):c.1651C>T (p.Arg551Cys)	ADAMTS8 (R551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514922	NM_007037.6(ADAMTS8):c.2338C>T (p.Arg780Trp)	ADAMTS8 (R780W)	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 2490643	NM_007037.6(ADAMTS8):c.440C>T (p.Pro147Leu)	ADAMTS8 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486459	NM_007037.6(ADAMTS8):c.192C>A (p.Phe64Leu)	ADAMTS8 (F64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476075	NM_007037.6(ADAMTS8):c.1438G>A (p.Asp480Asn)	ADAMTS8 (D480N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472595	NM_007037.6(ADAMTS8):c.2047G>A (p.Gly683Arg)	ADAMTS8 (G683R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406903	NM_007037.6(ADAMTS8):c.1357A>G (p.Arg453Gly)	ADAMTS8 (R453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400754	NM_007037.6(ADAMTS8):c.100G>T (p.Gly34Trp)	ADAMTS8 (G34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394718	NM_007037.6(ADAMTS8):c.2545G>A (p.Gly849Arg)	ADAMTS8 (G849R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392996	NM_007037.6(ADAMTS8):c.568A>G (p.Ser190Gly)	ADAMTS8 (S190G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387087	NM_007037.6(ADAMTS8):c.2152G>A (p.Val718Met)	ADAMTS8 (V718M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368487	NM_007037.6(ADAMTS8):c.1045G>A (p.Val349Met)	ADAMTS8 (V349M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361992	NM_007037.6(ADAMTS8):c.2399C>A (p.Pro800Gln)	ADAMTS8 (P800Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357437	NM_007037.6(ADAMTS8):c.186G>C (p.Lys62Asn)	ADAMTS8 (K62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356705	NM_007037.6(ADAMTS8):c.1858C>T (p.Arg620Trp)	ADAMTS8 (R620W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353545	NM_007037.6(ADAMTS8):c.623C>G (p.Thr208Arg)	ADAMTS8 (T208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331413	NM_007037.6(ADAMTS8):c.938C>T (p.Thr313Met)	ADAMTS8 (T313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327759	NM_007037.6(ADAMTS8):c.1232T>C (p.Met411Thr)	ADAMTS8 (M411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320562	NM_007037.6(ADAMTS8):c.292C>G (p.Arg98Gly)	ADAMTS8 (R98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319230	NM_007037.6(ADAMTS8):c.370G>A (p.Gly124Ser)	ADAMTS8 (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306375	NM_007037.6(ADAMTS8):c.2162G>A (p.Arg721Gln)	ADAMTS8 (R721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289158	NM_007037.6(ADAMTS8):c.722A>G (p.Asn241Ser)	ADAMTS8 (N241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269151	NM_007037.6(ADAMTS8):c.1859G>A (p.Arg620Gln)	ADAMTS8 (R620Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256050	NM_007037.6(ADAMTS8):c.2302G>A (p.Gly768Ser)	ADAMTS8 (G768S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253274	NM_007037.6(ADAMTS8):c.1345G>A (p.Asp449Asn)	ADAMTS8 (D449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253067	NM_007037.6(ADAMTS8):c.1492G>A (p.Gly498Ser)	ADAMTS8 (G498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250526	NM_007037.6(ADAMTS8):c.1511G>A (p.Gly504Glu)	ADAMTS8 (G504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249376	NM_007037.6(ADAMTS8):c.1837A>G (p.Lys613Glu)	ADAMTS8 (K613E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213431	NM_007037.6(ADAMTS8):c.1417G>A (p.Ala473Thr)	ADAMTS8 (A473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210680	NM_007037.6(ADAMTS8):c.206C>T (p.Ala69Val)	ADAMTS8 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210679	NM_007037.6(ADAMTS8):c.205G>T (p.Ala69Ser)	ADAMTS8 (A69S)	Single nucleotide variant (missense variant)	not specified	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 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	GRIA4, GRIK4 +956 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	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
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 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +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 635865	Single allele	ADAMTS15, ADAMTS8	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	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 625560	GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168)	ADAMTS8, APLP2 +15 more	Copy number loss	not provided	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 563878	GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1	ADAMTS15, KCNJ5 +18 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	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	ACAD8, ACRV1 +95 more	Copy number gain	See cases	GPathogenic
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 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 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic

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