GOLGA8N[gene] - ClinVar

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Items: 61

	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 149631	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 57412	GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57600	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	APBA2, ARHGAP11A-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 58650	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1	ARHGAP11A-DT, ARHGAP11B +43 more	Copy number loss	See cases	GPathogenic
Select item 152983	GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number loss	See cases	GPathogenic
Select item 160928	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number gain	See cases	GUncertain significance
Select item 160801	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1	ARHGAP11A-DT, FAN1 +41 more	Copy number loss	See cases	GPathogenic
Select item 148191	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1	LOC128899999, LOC129390679 +43 more	Copy number loss	See cases	GPathogenic
Select item 57845	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1	ARHGAP11A, ARHGAP11A-DT +43 more	Copy number loss	See cases	GPathogenic
Select item 32396	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 146129	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3	ARHGAP11A-DT, KLF13 +38 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 148789	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3	ARHGAP11A, ARHGAP11A-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 58676	GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1	ARHGAP11A-DT, ARHGAP11B +35 more	Copy number loss	See cases	GPathogenic
Select item 149194	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1	ARHGAP11A, ARHGAP11A-DT +33 more	Copy number loss	See cases	GPathogenic
Select item 57024	GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1	KLF13, LINC02256 +30 more	Copy number loss	See cases	GPathogenic
Select item 146123	GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1	ARHGAP11A-DT, CHRNA7 +29 more	Copy number loss	See cases	GPathogenic
Select item 58698	GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1	ARHGAP11A-DT, GOLGA8O +29 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 3148920	GRCh37/hg19 15q13.3-14(chr15:31677578-34254499)x3	ARHGAP11A, AVEN +7 more	Copy number gain	not provided	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
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 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2580334	GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1	ARHGAP11B, CHRNA7 +9 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425859	NC_000015.9:g.(?_32393486)_(34030811_?)dup	RYR3, ARHGAP11A +5 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1808319	GRCh37/hg19 15q13.2-13.3(chr15:31073669-32915593)x3	ARHGAP11A, CHRNA7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1703668	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240)	ARHGAP11A, CHRNA7 +8 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1684562	GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1	ARHGAP11A, ARHGAP11B +10 more	Copy number loss	See cases	GPathogenic
Select item 979417	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32915089)x3	CHRFAM7A, ARHGAP11A +11 more	Copy number gain	not provided	GUncertain significance
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 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 685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	APBA2, ARHGAP11A +52 more	Copy number gain	not provided	GPathogenic
Select item 635876	Single allele	ARHGAP11A, ARHGAP11B +11 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625748	GRCh37/hg19 15q13.2-13.3(chr15:30927362-32929514)	ARHGAP11A, ARHGAP11B +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	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 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 564184	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1	OTUD7A, TRPM1 +8 more	Copy number loss	not provided	GPathogenic
Select item 564180	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 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 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 443007	GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3	APBA2, ARHGAP11A +25 more	Copy number gain	See cases	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394946	GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917801)x4	ARHGAP11A, CHRNA7 +8 more	Copy number gain	See cases	GPathogenic
Select item 394700	GRCh37/hg19 15q13.3(chr15:32098670-32908373)x3	ARHGAP11A, CHRNA7 +2 more	Copy number gain	See cases	GBenign
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 253558	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4	APBA2, ARHGAP11A +51 more	Copy number gain	See cases	GPathogenic
Select item 253353	GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917857)x3	ARHGAP11A, CHRNA7 +8 more	Copy number gain	See cases	GLikely pathogenic

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Items: 61