"ISCA Site 6"[submitter] AND "UBE3A"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 58532	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4	SNORD115-26, SNORD115-27 +201 more	Copy number gain	See cases	GPathogenic
Select item 58531	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3	APBA2, ATP10A +203 more	Copy number gain	See cases	GPathogenic
Select item 58536	GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3	ATP10A, ATP10A-DT +188 more	Copy number gain	See cases	GPathogenic
Select item 58539	GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3	ATP10A, ATP10A-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 58569	GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	APBA2, ARHGAP11B +254 more	Copy number gain	See cases	GPathogenic
Select item 58568	GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3	APBA2, ATP10A +219 more	Copy number gain	See cases	GPathogenic
Select item 59369	GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3	ATP10A, ATP10A-DT +195 more	Copy number gain	See cases	GPathogenic
Select item 151934	GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3	ATP10A, ATP10A-DT +182 more	Copy number gain	See cases	GPathogenic
Select item 58577	GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1	APBA2, ATP10A +197 more	Copy number loss	See cases	GPathogenic
Select item 59391	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 58585	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1	GOLGA6L2, ATP10A +142 more	Copy number loss	See cases	GPathogenic
Select item 58581	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1	APBA2, ATP10A +167 more	Copy number loss	See cases	GPathogenic
Select item 58579	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1	ATP10A, ATP10A-DT +142 more	Copy number loss	See cases	GPathogenic
Select item 58578	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3	ATP10A, ATP10A-DT +142 more	Copy number gain	See cases	GPathogenic
Select item 58070	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3	ATP10A, ATP10A-DT +150 more	Copy number gain	See cases	GPathogenic
Select item 58071	GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3	ATP10A, ATP10A-DT +147 more	Copy number gain	See cases	GPathogenic
Select item 151937	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3	ATP10A, ATP10A-DT +142 more	Copy number gain	See cases	GPathogenic
Select item 151222	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4	ATP10A, ATP10A-DT +150 more	Copy number gain	See cases	GPathogenic
Select item 145987	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1	ATP10A, ATP10A-DT +142 more	Copy number loss	See cases	GPathogenic
Select item 58599	GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1	ATP10A, ATP10A-DT +142 more	Copy number loss	See cases	GPathogenic
Select item 58603	GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1	SNORD109B, SNORD115-1 +141 more	Copy number loss	See cases	GPathogenic
Select item 58601	GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1	ATP10A, ATP10A-DT +140 more	Copy number loss	See cases	GPathogenic
Select item 58607	GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1	ATP10A, ATP10A-DT +145 more	Copy number loss	See cases	GPathogenic
Select item 58606	GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1	GOLGA6L2, ATP10A +140 more	Copy number loss	See cases	GPathogenic
Select item 58605	GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3	ATP10A, ATP10A-DT +140 more	Copy number gain	See cases	GPathogenic
Select item 145034	GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1	ATP10A, ATP10A-DT +140 more	Copy number loss	See cases	GPathogenic
Select item 58627	GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1	ATP10A, ATP10A-DT +144 more	Copy number loss	See cases	GPathogenic
Select item 58631	GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1	ATP10A, ATP10A-DT +139 more	Copy number loss	See cases	GPathogenic
Select item 58634	GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1	ATP10A, ATP10A-DT +140 more	Copy number loss	See cases	GPathogenic
Select item 57843	GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1	ATP10A, ATP10A-DT +85 more	Copy number loss	See cases	GPathogenic
Select item 395546	GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1	ATP10A, GABRA5 +21 more	Copy number loss	See cases	GPathogenic
Select item 395545	GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3	ATP10A, GABRA5 +21 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 395128	GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1	ATP10A, CYFIP1 +26 more	Copy number loss	See cases	GPathogenic
Select item 395075	GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3	ATP10A, GABRA5 +22 more	Copy number gain	See cases	GPathogenic
Select item 394779	GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1	PWRN1, SNORD116-1 +27 more	Copy number loss	See cases	GPathogenic
Select item 394516	GRCh37/hg19 15q11.2(chr15:25582762-25584107)x3	UBE3A	Copy number gain	See cases	GLikely benign
Select item 394455	GRCh37/hg19 15q11.2(chr15:25585059-25585246)x3	UBE3A	Copy number gain	See cases	GBenign
Select item 394416	GRCh37/hg19 15q11.2(chr15:25683179-25684070)x3	UBE3A	Copy number gain	See cases	GBenign
Select item 394379	GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3	APBA2, GOLGA8M +24 more	Copy number gain	See cases	GPathogenic
Select item 394315	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4	GABRA5, IPW +51 more	Copy number gain	See cases	GPathogenic
Select item 394240	GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650)	ATP10A, CYFIP1 +32 more	Copy number gain	See cases	GPathogenic
Select item 393841	GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3	ATP10A, CYFIP1 +32 more	Copy number gain	See cases	GPathogenic

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Items: 44