ClinVar for Gene (Select 55998) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3301711	NR_028089.1(NXF5):n.798C>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3301710	NR_028089.1(NXF5):n.554C>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3301709	NR_028089.1(NXF5):n.1311A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3301708	NR_028089.1(NXF5):n.739C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3203495	NR_028089.1(NXF5):n.1264A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203494	NR_028089.1(NXF5):n.368G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3203493	NR_028089.1(NXF5):n.1013G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203492	NR_028089.1(NXF5):n.983G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203491	NR_028089.1(NXF5):n.862A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203489	NR_028089.1(NXF5):n.719C>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203487	NR_028089.1(NXF5):n.1370C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3032811	NC_000023.11:g.101838414G>A	NXF5	Single nucleotide variant	NXF5-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3020256	NC_000023.11:g.101842730C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 3008847	NC_000023.11:g.101837596A>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 3007156	NC_000023.11:g.101837593T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2978345	NC_000023.11:g.101841766G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2964669	NC_000023.11:g.101841530G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2963001	NC_000023.11:g.101841542C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2909529	NC_000023.11:g.101841701A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2904160	NC_000023.11:g.101840849C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2902052	NC_000023.11:g.101841536A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2895076	NC_000023.11:g.101837576T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2893476	NC_000023.11:g.101837488C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2888029	NC_000023.11:g.101841477C>T	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 2797389	NC_000023.11:g.101841734A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2714827	NC_000023.11:g.101841670A>C	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 2713448	NC_000023.11:g.101841760G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GUncertain significance
Select item 2689629	NR_028089.1(NXF5):n.652T>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661072	NR_028089.1(NXF5):n.692A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2661071	NR_028089.1(NXF5):n.1507_1513del	NXF5	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 2618865	NR_028089.1(NXF5):n.466A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2596598	NR_028089.1(NXF5):n.390G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2592179	NR_028089.1(NXF5):n.811C>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2541424	NR_028089.1(NXF5):n.1049C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2405430	NR_028089.1(NXF5):n.788G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2366999	NR_028089.1(NXF5):n.1382A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2357503	NC_000023.11:g.101841897G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2354309	NC_000023.11:g.101841748A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2353478	NR_028089.1(NXF5):n.462G>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2320176	NR_028089.1(NXF5):n.919G>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2302496	NR_028089.1(NXF5):n.507C>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2289400	NR_028089.1(NXF5):n.1082A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2172739	NC_000023.11:g.101837518G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2152613	NC_000023.11:g.101837636A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2133360	NC_000023.11:g.101841530G>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2069544	NC_000023.11:g.101841769T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2069543	NC_000023.11:g.101837615C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2055722	NC_000023.11:g.101837610C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1993606	NC_000023.11:g.101841679G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1934752	NC_000023.11:g.101841540G>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1927067	NC_000023.11:g.101841940G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1924528	NC_000023.11:g.101841986A>T	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 1920468	NC_000023.11:g.101841705C>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1916016	NC_000023.11:g.101841896C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1911300	NC_000023.11:g.101841759C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1678228	NC_000023.11:g.101841669C>T	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 1600767	NC_000023.11:g.101841958T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1599717	NC_000023.11:g.101841576G>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340489	GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	NXF2B, SYTL4 +38 more	Copy number gain	not provided	GUncertain significance
Select item 1293800	NC_000023.11:g.101838150dup	NXF5	Duplication	not provided	GBenign
Select item 1289579	NC_000023.11:g.101842243TCTT[4]	NXF5	Microsatellite	not provided	GBenign
Select item 1289138	NR_028089.1(NXF5):n.1103G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1288379	NC_000023.11:g.101842664G>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1271801	NC_000023.11:g.101838738G>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1268507	NC_000023.11:g.101838982C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1265481	NC_000023.11:g.101832525T>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1250533	NC_000023.11:g.101840697T>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1243342	NC_000023.11:g.101840923G>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1240517	NC_000023.11:g.101832524A>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1238705	NC_000023.11:g.101842263_101842264insTTT	NXF5	Insertion	not provided	GBenign
Select item 1238272	NC_000023.11:g.101841247G>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1230966	NC_000023.11:g.101842263C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1229320	NC_000023.11:g.101842918T>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1205899	NR_028089.1(NXF5):n.775A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic

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