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

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685503	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684750	GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3	ATP10A, CYFIP1 +27 more	Copy number gain	not provided	GPathogenic
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1809289	GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808719	GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808717	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1808668	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808643	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808627	GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 1808619	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1807745	GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807637	GRCh37/hg19 15q11.2-12(chr15:25512544-25766704)x3	UBE3A	Copy number gain	not provided	GUncertain significance
Select item 1807576	GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3	HERC2, IPW +22 more	Copy number gain	not provided	GPathogenic
Select item 816549	GRCh37/hg19 15q11.2(chr15:25583840-25611877)x1	UBE3A	Copy number loss	not provided	GLikely pathogenic
Select item 816547	GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1	PWAR4, SNRPN +17 more	Copy number loss	not provided	GPathogenic
Select item 815689	GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1	GOLGA6L2, SNURF +20 more	Copy number loss	not provided	GPathogenic
Select item 815688	GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1	CHRFAM7A, GOLGA8M +38 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815686	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4	ENTREP2, APBA2 +45 more	Copy number gain	not provided	GPathogenic
Select item 815685	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 564162	GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1	GOLGA6L2, SNRPN +17 more	Copy number loss	not provided	GPathogenic
Select item 564161	GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 564160	GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3	NPAP1, MAGEL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 564159	GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 564158	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3	GABRG3, GABRB3 +22 more	Copy number gain	not provided	GPathogenic
Select item 564157	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1	IPW, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 564156	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3	PWAR6, PWAR1 +22 more	Copy number gain	not provided	GPathogenic
Select item 564155	GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1	GABRG3, PWAR6 +22 more	Copy number loss	not provided	GPathogenic
Select item 564154	GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1	ATP10A, GABRA5 +23 more	Copy number loss	not provided	GPathogenic
Select item 564153	GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1	GABRA5, SNURF +22 more	Copy number loss	not provided	GPathogenic
Select item 564152	GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1	PWRN2, HERC2 +22 more	Copy number loss	not provided	GPathogenic
Select item 564151	GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1	ATP10A, CYFIP1 +25 more	Copy number loss	not provided	GPathogenic
Select item 564150	GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4	APBA2, ARHGAP11A +47 more	Copy number gain	not provided	GPathogenic
Select item 564149	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4	APBA2, ARHGAP11B +42 more	Copy number gain	not provided	GPathogenic
Select item 564148	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3	APBA2, ARHGAP11B +42 more	Copy number gain	not provided	GPathogenic
Select item 564147	GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4	APBA2, ARHGAP11B +35 more	Copy number gain	not provided	GPathogenic
Select item 564146	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1	APBA2, ATP10A +32 more	Copy number loss	not provided	GPathogenic
Select item 564145	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 564144	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1	ATP10A, CYFIP1 +26 more	Copy number loss	not provided	GPathogenic
Select item 564143	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 564142	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 564141	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic

ClinVar

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Items: 43