LBH[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 147374	GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3	ALK, CAPN13 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2373476	NM_030915.4(LBH):c.33C>A (p.Asp11Glu)	LBH (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117979	NM_030915.4(LBH):c.102C>A (p.Ser34Arg)	LBH (S34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402793	NM_030915.4(LBH):c.178C>T (p.Arg60Cys)	LBH (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117980	NM_030915.4(LBH):c.269A>G (p.Asp90Gly)	LBH (D90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117981	NM_030915.4(LBH):c.284G>A (p.Cys95Tyr)	LBH (C95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528794	NM_030915.4(LBH):c.296C>T (p.Ala99Val)	LBH (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117982	NM_030915.4(LBH):c.297G>A (p.Ala99=)	LBH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	EML4, FAM98A +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 562660	GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1	SPAST, ALK +14 more	Copy number loss	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 253814	GRCh37/hg19 2p23.1(chr2:30371106-31490282)x3	CAPN13, GALNT14 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 28