ClinVar for Gene (Select 7514) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339093	NM_003400.4(XPO1):c.1434_1435del (p.Lys479fs)	XPO1 (K479fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 3333478	NM_003400.4(XPO1):c.409A>G (p.Ile137Val)	XPO1 (I137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191231	NM_003400.4(XPO1):c.916C>T (p.Leu306Phe)	XPO1 (L306F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191230	NM_003400.4(XPO1):c.667C>T (p.His223Tyr)	XPO1 (H223Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191228	NM_003400.4(XPO1):c.2235T>G (p.Ile745Met)	XPO1 (I745M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062602	GRCh37/hg19 2p15(chr2:61518864-62195531)x3	CCT4, COMMD1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685853	GRCh37/hg19 2p15(chr2:61542902-62084073)x3	FAM161A, USP34 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2650988	NM_003400.4(XPO1):c.171T>G (p.Pro57=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499559	NM_003400.4(XPO1):c.1952A>T (p.Glu651Val)	XPO1 (E651V)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 2475716	NM_003400.4(XPO1):c.308A>T (p.Lys103Ile)	XPO1 (K103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332900	NM_003400.4(XPO1):c.211C>G (p.Gln71Glu)	XPO1 (Q71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263176	NM_003400.4(XPO1):c.2986C>G (p.Leu996Val)	USP34-DT, XPO1 (L996V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257298	NM_003400.4(XPO1):c.3092C>T (p.Ser1031Phe)	USP34-DT, XPO1 (S1031F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807738	GRCh37/hg19 2p15(chr2:61379352-61928100)x1	C2orf74, USP34 +1 more	Copy number loss	not provided	GPathogenic
Select item 1807687	GRCh37/hg19 2p16.1-15(chr2:61215497-61714418)x1	C2orf74, PEX13 +4 more	Copy number loss	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 1374173	NC_000002.11:g.(?_61258534)_(62063264_?)dup	USP34, XPO1 +4 more	Duplication	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1063817	NM_003400.4(XPO1):c.913C>T (p.Arg305Ter)	XPO1 (R305*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 814269	GRCh37/hg19 2p15(chr2:61523951-62262243)x3	USP34, XPO1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 775721	NM_003400.4(XPO1):c.888+9A>G	XPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775720	NM_003400.4(XPO1):c.913C>A (p.Arg305=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775172	NM_003400.4(XPO1):c.2538G>A (p.Thr846=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755963	NM_003400.4(XPO1):c.1623A>G (p.Ala541=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748180	NM_003400.4(XPO1):c.2812+7A>T	USP34-DT, XPO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737667	NM_003400.4(XPO1):c.2271G>A (p.Lys757=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734585	NM_003400.4(XPO1):c.2163C>T (p.Tyr721=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720238	NM_003400.4(XPO1):c.1875T>G (p.Leu625=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714611	NM_003400.4(XPO1):c.711C>T (p.Pro237=)	XPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689336	GRCh37/hg19 2p15(chr2:61511303-61743842)x3	USP34, XPO1	Copy number gain	not provided	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 562631	GRCh37/hg19 2p16.1-15(chr2:60573620-61767847)x3	BCL11A, C2orf74 +7 more	Copy number gain	not provided	GUncertain significance
Select item 549585	NC_000002.11:g.61795359_61831792del36434	XPO1	Deletion	Primary amenorrhea	GUncertain significance
Select item 545283	Single allele	B3GNT2, CCT4 +59 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	PEX13, BCL11A +10 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
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 442030	GRCh37/hg19 2p15(chr2:61605123-61786583)x1	USP34, XPO1	Copy number loss	See cases	GUncertain significance
Select item 395613	GRCh37/hg19 2p15(chr2:61335464-61757267)x1	C2orf74, SANBR +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 376697	NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)	XPO1 (E571A)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376696	NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)	XPO1 (E571V)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376695	NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)	XPO1 (E571K)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148537	GRCh38/hg38 2p15(chr2:61288659-61495559)x1	LOC122757951, LOC129388867 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
Select item 148386	GRCh38/hg38 2p15(chr2:61424779-61621710)x1	LOC122757951, LOC129388867 +13 more	Copy number loss	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 135493	NM_003400.4(XPO1):c.1159T>C (p.Ser387Pro)	XPO1 (S387P)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133433	NM_003400.4(XPO1):c.1385-49A>G	XPO1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 60179	GRCh38/hg38 2p15(chr2:61515438-62305848)x1	B3GNT2, CCT4 +32 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63