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

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685330	GRCh37/hg19 9p24.3(chr9:479812-511756)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 2685327	GRCh37/hg19 9p24.3(chr9:203862-1470291)x1	DMRT1, DMRT2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684568	GRCh37/hg19 9p24.3(chr9:416418-602890)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 2684567	GRCh37/hg19 9p24.3(chr9:341089-905937)x3	DMRT1, DOCK8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684566	GRCh37/hg19 9p24.3(chr9:314209-470461)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 2684565	GRCh37/hg19 9p24.3(chr9:254071-749833)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 1809369	GRCh37/hg19 9p24.3(chr9:341063-671330)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 1809114	GRCh37/hg19 9p24.3(chr9:394523-518103)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 1808422	GRCh37/hg19 9p24.3(chr9:203862-900186)x3	DMRT1, DOCK8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808411	GRCh37/hg19 9p24.3(chr9:304669-685819)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 1808128	GRCh37/hg19 9p24.3(chr9:535492-685819)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 1807859	GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	RIC1, RLN1 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341027	GRCh37/hg19 9p24.3(chr9:203861-832928)x1	DOCK8, DOCK8-AS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340997	GRCh37/hg19 9p24.3(chr9:369763-489338)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 1340685	GRCh37/hg19 9p24.3(chr9:314208-915632)x3	DMRT1, DOCK8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340682	GRCh37/hg19 9p24.3(chr9:336088-980057)x3	DMRT1, DMRT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340667	GRCh37/hg19 9p24.3(chr9:453134-820485)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 1340609	GRCh37/hg19 9p24.3(chr9:525954-813180)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 1340304	GRCh37/hg19 9p24.3(chr9:519255-671330)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 1340070	GRCh37/hg19 9p24.3(chr9:322795-622360)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 980911	GRCh37/hg19 9p24.3(chr9:203861-499996)x1	DOCK8, DOCK8-AS1 +1 more	Copy number loss	not provided	GPathogenic
Select item 979261	GRCh37/hg19 9p24.3(chr9:382183-734215)x4	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 979259	GRCh37/hg19 9p24.3(chr9:353220-714935)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 979257	GRCh37/hg19 9p24.3(chr9:518537-672786)x4	KANK1	Copy number gain	not provided	GUncertain significance
Select item 979255	GRCh37/hg19 9p24.3(chr9:423689-1096481)x3	KANK1, DMRT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815204	GRCh37/hg19 9p24.3(chr9:694452-1413398)x3	DMRT1, DMRT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815203	GRCh37/hg19 9p24.3(chr9:500120-556856)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 815202	GRCh37/hg19 9p24.3(chr9:468704-579753)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 815201	GRCh37/hg19 9p24.3(chr9:460071-740681)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 815200	GRCh37/hg19 9p24.3(chr9:374830-489338)x1	DOCK8, KANK1	Copy number loss	not provided	GUncertain significance
Select item 815199	GRCh37/hg19 9p24.3(chr9:364035-646644)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 815198	GRCh37/hg19 9p24.3(chr9:341088-539781)x3	KANK1, DOCK8	Copy number gain	not provided	GLikely pathogenic
Select item 815197	GRCh37/hg19 9p24.3(chr9:314208-518538)x3	KANK1, DOCK8	Copy number gain	not provided	GUncertain significance
Select item 815196	GRCh37/hg19 9p24.3(chr9:294253-534474)x3	KANK1, DOCK8	Copy number gain	not provided	GUncertain significance
Select item 815195	GRCh37/hg19 9p24.3(chr9:294253-711112)x3	KANK1, DOCK8	Copy number gain	not provided	GUncertain significance
Select item 815194	GRCh37/hg19 9p24.3(chr9:291867-733212)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 815193	GRCh37/hg19 9p24.3(chr9:277844-1337835)x3	DMRT1, KANK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815189	GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	AK3, BRD10 +40 more	Copy number loss	not provided	GPathogenic
Select item 815188	GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	DMAC1, ERMP1 +41 more	Copy number loss	not provided	GPathogenic
Select item 815187	GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1	SLC1A1, SMARCA2 +37 more	Copy number loss	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	not provided	GPathogenic
Select item 815184	GRCh37/hg19 9p24.3(chr9:203861-567615)x1	KANK1, DOCK8-AS1 +1 more	Copy number loss	not provided	GPathogenic
Select item 815183	GRCh37/hg19 9p24.3(chr9:203861-1288574)x3	DOCK8-AS1, DMRT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815181	GRCh37/hg19 9p24.3(chr9:203861-584635)x3	KANK1, DOCK8-AS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	ZDHHC21, ACER2 +61 more	Copy number gain	not provided	GPathogenic
Select item 563679	GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1	AK3, BRD10 +44 more	Copy number loss	not provided	GPathogenic
Select item 563678	GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1	AK3, BRD10 +37 more	Copy number loss	not provided	GPathogenic
Select item 563677	GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1	AK3, BRD10 +37 more	Copy number loss	not provided	GPathogenic
Select item 563675	GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1	AK3, BRD10 +37 more	Copy number loss	not provided	GPathogenic
Select item 563673	GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1	AK3, BRD10 +35 more	Copy number loss	not provided	GPathogenic
Select item 563670	GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1	AK3, CDC37L1 +17 more	Copy number loss	not provided	GPathogenic
Select item 563639	GRCh37/hg19 9p24.3(chr9:735509-1270931)x3	DMRT3, KANK1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563631	GRCh37/hg19 9p24.3(chr9:203861-635302)x3	DOCK8, DOCK8-AS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563630	GRCh37/hg19 9p24.3(chr9:294253-685819)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 563624	GRCh37/hg19 9p24.3(chr9:242083-567615)x3	KANK1, DOCK8	Copy number gain	not provided	GUncertain significance
Select item 563623	GRCh37/hg19 9p24.3(chr9:203861-525036)x1	DOCK8-AS1, DOCK8 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 563621	GRCh37/hg19 9p24.3(chr9:203861-516638)x4	DOCK8-AS1, KANK1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563618	GRCh37/hg19 9p24.3(chr9:525953-813198)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 563616	GRCh37/hg19 9p24.3(chr9:314208-559164)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 563613	GRCh37/hg19 9p24.3(chr9:245616-479740)x3	KANK1, DOCK8	Copy number gain	not provided	GUncertain significance
Select item 563605	GRCh37/hg19 9p24.3(chr9:416417-622360)x3	KANK1, DOCK8	Copy number gain	not provided	GUncertain significance
Select item 563602	GRCh37/hg19 9p24.3(chr9:322794-518499)x3	DOCK8, KANK1	Copy number gain	not provided	GUncertain significance
Select item 563583	GRCh37/hg19 9p24.3(chr9:608594-705931)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 563578	GRCh37/hg19 9p24.3(chr9:608702-694567)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 563558	GRCh37/hg19 9p24.3(chr9:512066-539674)x1	KANK1	Copy number loss	not provided	GUncertain significance

ClinVar

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Classification type

Germline classification

Types of conflicts

Molecular consequence

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Items: 72