POTEB3[gene] - ClinVar

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Items: 29

	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 146937	GRCh38/hg38 15q11.1-11.2(chr15:20188973-22301831)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 154905	GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147132	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22301831)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147090	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22121581)x1	FAM30C, GOLGA6L6 +19 more	Copy number loss	See cases	GBenign
Select item 147074	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22308242)x1	OR4M2B, OR4N4 +23 more	Copy number loss	See cases	GBenign
Select item 147162	GRCh38/hg38 15q11.1-11.2(chr15:20227627-22173882)x1	GOLGA6L6, FAM30C +19 more	Copy number loss	See cases	GBenign
Select item 147061	GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 147233	GRCh38/hg38 15q11.1-11.2(chr15:20257350-22308242)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147184	GRCh38/hg38 15q11.1-11.2(chr15:20286893-22290649)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 146951	GRCh38/hg38 15q11.1-11.2(chr15:20286894-22056657)x1	FAM30C, GOLGA6L6 +16 more	Copy number loss	See cases	GBenign
Select item 147047	GRCh38/hg38 15q11.1-11.2(chr15:20370423-21997369)x1	FAM30C, GOLGA6L6 +16 more	Copy number loss	See cases	GBenign
Select item 147148	GRCh38/hg38 15q11.1-11.2(chr15:20399345-21976567)x1	FAM30C, GOLGA6L6 +15 more	Copy number loss	See cases	GBenign
Select item 146978	GRCh38/hg38 15q11.1-11.2(chr15:20419199-22308242)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, ATP10A +218 more	Copy number gain	See cases	GPathogenic
Select item 150942	GRCh38/hg38 15q11.2(chr15:20627866-22308242)x3	FAM30C, LINC01193 +22 more	Copy number gain	See cases	GLikely benign
Select item 147223	GRCh38/hg38 15q11.2(chr15:20924655-22030675)x3	FAM30C, LINC01193 +12 more	Copy number gain	See cases	GBenign
Select item 147174	GRCh38/hg38 15q11.2(chr15:20924655-22270775)x1	FAM30C, LINC01193 +19 more	Copy number loss	See cases	GBenign
Select item 147154	GRCh38/hg38 15q11.2(chr15:20924655-22301831)x1	FAM30C, LINC01193 +19 more	Copy number loss	See cases	GBenign
Select item 146984	GRCh38/hg38 15q11.2(chr15:20924655-22301831)x1	FAM30C, LINC01193 +19 more	Copy number loss	See cases	GBenign
Select item 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 147109	GRCh38/hg38 15q11.2(chr15:20995400-22308242)x3	FAM30C, LINC02203 +17 more	Copy number gain	See cases	GBenign

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Items: 29