POTEB[gene] - ClinVar

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Search results

Items: 60

	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
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 147204	GRCh38/hg38 15q11.2(chr15:21581401-22301831)x3	LINC02203, LOC102724971 +13 more	Copy number gain	See cases	GBenign
Select item 147025	GRCh38/hg38 15q11.2(chr15:21581401-22301831)x1	LINC02203, LOC102724971 +13 more	Copy number loss	See cases	GBenign
Select item 147008	GRCh38/hg38 15q11.2(chr15:21581401-22308242)x3	LINC02203, LOC102724971 +13 more	Copy number gain	See cases	GBenign
Select item 146964	GRCh38/hg38 15q11.2(chr15:21581401-22308242)x1	LINC02203, LOC102724971 +13 more	Copy number loss	See cases	GBenign
Select item 777876	NM_001277304.2(POTEB):c.726C>T (p.Gly242=)	POTEB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2498628	GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1	CYFIP1, GOLGA6L1 +6 more	Copy number loss	not provided	GPathogenic
Select item 1711392	GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1	ATP10A, CYFIP1 +32 more	Copy number loss	not provided	GPathogenic
Select item 997814	Single allele	CYFIP1, POTEB2 +8 more	Deletion	Intellectual disability	GPathogenic
Select item 816481	GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1	CYFIP1, GOLGA6L1 +6 more	Copy number loss	See cases	GPathogenic
Select item 685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	APBA2, ARHGAP11A +52 more	Copy number gain	not provided	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625710	GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)	ATP10A, CYFIP1 +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 617598	GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4	ATP10A, CYFIP1 +33 more	Copy number gain	not provided	GPathogenic
Select item 443511	GRCh37/hg19 15p13-q11.2(chr15:2770421-23082442)x1	CYFIP1, GOLGA6L1 +8 more	Copy number loss	See cases	GLikely benign
Select item 402122	GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4	APBA2, ATP10A +39 more	Copy number gain	See cases	GPathogenic
Select item 395458	GRCh37/hg19 15q11.2(chr15:20733395-23487423)x3	CYFIP1, GOLGA6L1 +8 more	Copy number gain	See cases	GBenign
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 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
Select item 253939	GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1	CYFIP1, GOLGA6L1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 253587	GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3	ATP10A, CYFIP1 +29 more	Copy number gain	See cases	GPathogenic
Select item 253558	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4	APBA2, ARHGAP11A +51 more	Copy number gain	See cases	GPathogenic
Select item 253536	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4	APBA2, ARHGAP11B +48 more	Copy number gain	See cases	GPathogenic
Select item 253444	GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3	PWAR6, PWARSN +32 more	Copy number gain	See cases	GPathogenic
Select item 236372	Single allele	POTEB, POTEB2 +32 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236371	Single allele	POTEB, POTEB2 +27 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 221867	GRCh37/hg19 15q11.2(chr15:22076598-22219100)x3	POTEB	Copy number gain	Premature ovarian failure	GBenign
Select item 157327	Single allele	GOLGA6L6, OR4M2 +3 more	Duplication	Large for gestational age	Gnot provided

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Items: 60