ClinVar for Gene (Select 338645) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3541282	NM_001009909.4(LUZP2):c.377T>C (p.Ile126Thr)	LUZP2 (I40T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392382	GRCh37/hg19 11p14.3-14.1(chr11:24430022-27336704)x1	ANO3, BBOX1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 3391911	GRCh37/hg19 11p14.3-13(chr11:24192701-32455527)x1	ANO3, ARL14EP +23 more	Copy number loss	not provided	GPathogenic
Select item 3391910	GRCh37/hg19 11p14.3-12(chr11:22428384-37196643)x1	ABTB2, ANO3 +62 more	Copy number loss	not provided	GPathogenic
Select item 3391909	GRCh37/hg19 11p15.1-12(chr11:17120358-41424289)x1	ABCC8, ABTB2 +105 more	Copy number loss	not provided	GPathogenic
Select item 3292326	NM_001009909.4(LUZP2):c.923A>G (p.Glu308Gly)	LUZP2 (E222G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292325	NM_001009909.4(LUZP2):c.146C>T (p.Ser49Leu)	LUZP2 (S49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121593	NM_001009909.4(LUZP2):c.998C>T (p.Thr333Ile)	LUZP2 (T247I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121592	NM_001009909.4(LUZP2):c.952C>T (p.Pro318Ser)	LUZP2 (P276S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121591	NM_001009909.4(LUZP2):c.762C>G (p.Ser254Arg)	LUZP2 (S168R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121590	NM_001009909.4(LUZP2):c.673C>G (p.Pro225Ala)	LUZP2 (P225A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121588	NM_001009909.4(LUZP2):c.649G>T (p.Val217Phe)	LUZP2 (V175F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121587	NM_001009909.4(LUZP2):c.132G>C (p.Gln44His)	LUZP2 (Q44H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622976	NM_001009909.4(LUZP2):c.301A>G (p.Thr101Ala)	LUZP2 (T101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534067	NM_001009909.4(LUZP2):c.898C>T (p.Pro300Ser)	LUZP2 (P214S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531852	NM_001009909.4(LUZP2):c.398A>G (p.Asn133Ser)	LUZP2 (N47S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517422	NM_001009909.4(LUZP2):c.325C>G (p.Gln109Glu)	LUZP2 (Q109E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465246	NM_001009909.4(LUZP2):c.518T>A (p.Phe173Tyr)	LUZP2 (F87Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465245	NM_001009909.4(LUZP2):c.516A>T (p.Leu172Phe)	LUZP2 (L172F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381167	NM_001009909.4(LUZP2):c.739C>G (p.Leu247Val)	LUZP2 (L205V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358612	NM_001009909.4(LUZP2):c.869C>T (p.Pro290Leu)	LUZP2 (P248L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358439	NM_001009909.4(LUZP2):c.740T>C (p.Leu247Pro)	LUZP2 (L205P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324570	NM_001009909.4(LUZP2):c.623A>T (p.Glu208Val)	LUZP2 (E122V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318483	NM_001009909.4(LUZP2):c.638G>T (p.Cys213Phe)	LUZP2 (C127F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314540	NM_001009909.4(LUZP2):c.656G>A (p.Arg219His)	LUZP2 (R219H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296879	NM_001009909.4(LUZP2):c.329C>T (p.Ala110Val)	LUZP2 (A110V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288750	NM_001009909.4(LUZP2):c.155T>C (p.Leu52Pro)	LUZP2 (L52P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255966	NM_001009909.4(LUZP2):c.529C>A (p.Gln177Lys)	LUZP2 (Q91K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808051	GRCh37/hg19 11p14.3(chr11:25062206-25264466)x3	LUZP2	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340943	GRCh37/hg19 11p14.3(chr11:25028329-25257031)x3	LUZP2	Copy number gain	not provided	GLikely benign
Select item 1340737	GRCh37/hg19 11p14.3-14.2(chr11:24792593-26289656)x1	LUZP2	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980399	GRCh37/hg19 11p14.3(chr11:23449039-24541436)x3	LUZP2	Copy number gain	not provided	GUncertain significance
Select item 815421	GRCh37/hg19 11p14.3-14.2(chr11:24481150-26700185)x1	SLC5A12, LUZP2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815420	GRCh37/hg19 11p14.3(chr11:23910971-24938322)x3	LUZP2	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563838	GRCh37/hg19 11p14.3(chr11:24902231-25204649)x1	LUZP2	Copy number loss	not provided	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 395250	GRCh37/hg19 11p14.3(chr11:24563723-24657683)x3	LUZP2	Copy number gain	See cases	GBenign
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 151265	GRCh38/hg38 11p14.3(chr11:23335670-25613811)x3	LINC02686, LINC02699 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

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Links from Gene

Items: 57