"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685887	GRCh37/hg19 Xp21.1(chrX:31542598-31691102)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 2685739	GRCh37/hg19 Xp21.1(chrX:33003337-33951486)x2	DMD	Copy number gain	not provided	GUncertain significance
Select item 2685707	GRCh37/hg19 Xp21.1(chrX:32311728-32565863)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 2685706	GRCh37/hg19 Xp21.1(chrX:32000397-32025859)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 2685705	GRCh37/hg19 Xp21.1(chrX:31993507-32031819)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 2685704	GRCh37/hg19 Xp21.1(chrX:31894316-31976319)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684976	GRCh37/hg19 Xp21.2(chrX:30918815-31292715)x3	DMD, FTHL17	Copy number gain	not provided	GUncertain significance
Select item 2684952	GRCh37/hg19 Xp21.1(chrX:32867689-32935343)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 2684841	GRCh37/hg19 Xp21.1(chrX:31959958-31987608)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 2684730	GRCh37/hg19 Xp21.1(chrX:31917771-31976319)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 2684619	GRCh37/hg19 Xp21.1(chrX:31871411-31952468)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 2684508	GRCh37/hg19 Xp21.1(chrX:31844448-31936656)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 2684397	GRCh37/hg19 Xp21.1(chrX:31795364-32015996)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1809457	GRCh37/hg19 Xp21.1(chrX:32883616-32944507)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 1808736	GRCh37/hg19 Xp21.2(chrX:31301655-31365681)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 1808714	GRCh37/hg19 Xp21.1(chrX:32835255-32920421)x2	DMD	Copy number gain	not provided	GPathogenic
Select item 1808709	GRCh37/hg19 Xp21.1(chrX:31936034-31952468)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1808654	GRCh37/hg19 Xp21.1(chrX:31844448-31952468)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1808647	GRCh37/hg19 Xp21.1(chrX:31684916-31875673)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1808637	GRCh37/hg19 Xp22.11-21.2(chrX:24675165-31490279)x1	ARX, DCAF8L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808603	GRCh37/hg19 Xp21.1(chrX:32563085-32787197)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1808493	GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1	CFAP47, CXorf22 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808481	GRCh37/hg19 Xp21.1(chrX:31563460-31785119)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 1808165	GRCh37/hg19 Xp21.1(chrX:33027160-33516991)x2	DMD	Copy number gain	not provided	GUncertain significance
Select item 1807824	GRCh37/hg19 Xp21.1(chrX:31855685-32248817)x3	DMD	Copy number gain	not provided	GLikely pathogenic
Select item 1807810	GRCh37/hg19 Xp22.11-21.1(chrX:24879855-32902136)x1	ARX, DCAF8L1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1807712	GRCh37/hg19 Xp21.2(chrX:31458626-31479641)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1807698	GRCh37/hg19 Xp21.1(chrX:32353233-32474885)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 1807691	GRCh37/hg19 Xp21.1(chrX:32681049-33090616)x2	DMD	Copy number gain	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341160	GRCh37/hg19 Xp21.1(chrX:31941493-32044401)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1341093	GRCh37/hg19 Xp21.1(chrX:31962948-32117422)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1341061	GRCh37/hg19 Xp21.1(chrX:32795826-32852263)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1340911	GRCh37/hg19 Xp21.1(chrX:31681369-31923633)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 1340892	GRCh37/hg19 Xp21.1(chrX:31996829-32062423)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 1340850	GRCh37/hg19 Xp21.1(chrX:32769117-32806554)x0	DMD	Copy number loss	not provided	GLikely pathogenic
Select item 1340717	GRCh37/hg19 Xp21.1(chrX:31831085-32063055)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1340479	GRCh37/hg19 Xp21.1(chrX:32088639-32133235)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 1340434	GRCh37/hg19 Xp21.2(chrX:30949648-31403398)x3	DMD, FTHL17	Copy number gain	not provided	GUncertain significance
Select item 1340324	GRCh37/hg19 Xp21.1(chrX:31761312-31876380)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 1339964	GRCh37/hg19 Xp21.1(chrX:32990095-34190399)x3	DMD, FAM47A	Copy number gain	not provided	GUncertain significance
Select item 1339961	GRCh37/hg19 Xp21.1(chrX:31757066-32131812)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 980269	GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1	TASL, MAGEB2 +9 more	Copy number loss	not provided	GPathogenic
Select item 979789	GRCh37/hg19 Xp21.1(chrX:32755325-32814196)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 979788	GRCh37/hg19 Xp21.1(chrX:31723063-31826814)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 979787	GRCh37/hg19 Xp21.1(chrX:31713409-31761739)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 979786	GRCh37/hg19 Xp21.1(chrX:31962955-32746089)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 979785	GRCh37/hg19 Xp21.1(chrX:31778982-32076838)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 979784	GRCh37/hg19 Xp21.1(chrX:31889651-32057692)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 979783	GRCh37/hg19 Xp21.1(chrX:31795363-31959887)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816338	GRCh37/hg19 Xp21.1(chrX:33331325-33776948)x3	DMD	Copy number gain	not provided	GUncertain significance
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 more	Copy number loss	not provided	GPathogenic
Select item 816336	GRCh37/hg19 Xp21.1(chrX:32458016-32593856)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 816335	GRCh37/hg19 Xp21.1(chrX:32455259-32791566)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 816334	GRCh37/hg19 Xp21.1(chrX:32057741-32103997)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 816333	GRCh37/hg19 Xp21.1(chrX:31952389-31982482)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 816332	GRCh37/hg19 Xp21.1(chrX:31855684-32157553)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 816331	GRCh37/hg19 Xp21.1(chrX:31795363-31982230)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 816330	GRCh37/hg19 Xp21.1(chrX:31766645-31923633)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 816329	GRCh37/hg19 Xp21.1(chrX:31761311-31869309)x1	DMD	Copy number loss	not provided	GPathogenic
Select item 816328	GRCh37/hg19 Xp21.2(chrX:30780009-31458625)x3	TAB3, FTHL17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 564826	GRCh37/hg19 Xp21.1(chrX:33340658-33637759)x2	DMD	Copy number gain	not provided	GUncertain significance
Select item 564825	GRCh37/hg19 Xp21.1(chrX:33238561-33269759)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 564824	GRCh37/hg19 Xp21.1(chrX:33129534-33149704)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 564823	GRCh37/hg19 Xp21.1(chrX:32769117-32803733)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 564822	GRCh37/hg19 Xp21.1(chrX:32765462-32891720)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 564821	GRCh37/hg19 Xp21.1(chrX:32127366-32222495)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 564820	GRCh37/hg19 Xp21.1(chrX:32088638-32133235)x1	DMD	Copy number loss	not provided	GUncertain significance
Select item 564819	GRCh37/hg19 Xp21.1(chrX:31880951-32082537)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 564818	GRCh37/hg19 Xp21.1(chrX:31715431-31814158)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 564817	GRCh37/hg19 Xp21.1(chrX:31684915-31723599)x0	DMD	Copy number loss	not provided	GPathogenic
Select item 564816	GRCh37/hg19 Xp21.1(chrX:31674088-31904904)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 564815	GRCh37/hg19 Xp21.2-21.1(chrX:31410344-31853992)x3	DMD	Copy number gain	not provided	GUncertain significance
Select item 564814	GRCh37/hg19 Xp21.2(chrX:31243134-31268055)x0	DMD	Copy number loss	not provided	GUncertain significance
Select item 564805	GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2	MAGEB3, MAGEB18 +18 more	Copy number gain	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic

ClinVar

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Germline classification

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Search results

Items: 83