GOLGA8M[gene] - ClinVar - NCBI

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	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	ATP10A, ATP10A-DT +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 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 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, LOC121847940 +218 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 545163	Single allele	APBA2, ARHGAP11B +228 more	Duplication	Autism	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 545171	Single allele	SNORD116-28, SNORD116-29 +153 more	Duplication	Schizophrenia	GPathogenic
Select item 545173	Single allele	GOLGA8F, PWRN2 +151 more	Duplication	Autism	GPathogenic
Select item 160989	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3	APBA2, ATP10A +170 more	Copy number gain	See cases	GPathogenic
Select item 154724	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4	APBA2, ATP10A +172 more	Copy number gain	See cases	GPathogenic
Select item 150806	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	APBA2, ARHGAP11B +205 more	Copy number gain	See cases	GPathogenic
Select item 150213	GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3	APBA2, ARHGAP11B +190 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 149258	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1	APBA2, ARHGAP11B +205 more	Copy number loss	See cases	GPathogenic
Select item 148557	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4	LOC125078048, LOC125078049 +166 more	Copy number gain	See cases	GPathogenic
Select item 148504	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4	SNORD115-35, SNORD115-36 +170 more	Copy number gain	See cases	GPathogenic
Select item 146726	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4	APBA2, ATP10A +166 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 146449	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 146447	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4	APBA2, ATP10A +170 more	Copy number gain	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 58581	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1	APBA2, ATP10A +167 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 155586	GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	APBA2, ARHGAP11B +205 more	Copy number gain	See cases	GPathogenic
Select item 155412	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3	ATP10A, ATP10A-DT +151 more	Copy number gain	See cases	GPathogenic
Select item 155312	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4	APBA2, ATP10A +167 more	Copy number gain	See cases	GPathogenic
Select item 155159	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1	APBA2, ATP10A +166 more	Copy number loss	See cases	GPathogenic
Select item 153771	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1	APBA2, ATP10A +166 more	Copy number loss	See cases	GPathogenic
Select item 153283	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1	ATP10A, ATP10A-DT +151 more	Copy number loss	See cases	GPathogenic
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	SNORD115-20, SNORD115-21 +314 more	Copy number loss	See cases	GPathogenic
Select item 57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	FAN1, GOLGA8T +61 more	Copy number loss	See cases	GPathogenic
Select item 145496	GRCh38/hg38 15q13.1(chr15:28314232-28840742)x1	GOLGA6L24, GOLGA6L25 +7 more	Copy number loss	See cases	GLikely benign
Select item 154455	GRCh38/hg38 15q13.1-13.2(chr15:28446255-30073921)x1	APBA2, ENTREP2 +17 more	Copy number loss	See cases	GUncertain significance
Select item 147288	GRCh38/hg38 15q13.1(chr15:28446255-28785371)x3	GOLGA6L25, GOLGA8G +2 more	Copy number gain	See cases	GBenign
Select item 545174	Single allele	APBA2, ENTREP2 +19 more	Duplication	Autism	GLikely pathogenic
Select item 155656	GRCh38/hg38 15q13.1(chr15:28578576-29244060)x3	APBA2, ENTREP2 +3 more	Copy number gain	See cases	GLikely benign
Select item 153364	GRCh38/hg38 15q13.1(chr15:28583021-29104758)x3	APBA2, GOLGA6L7 +2 more	Copy number gain	See cases	GLikely benign
Select item 1184308	NC_000015.10:g.28694170_30078717del	LOC129390677, LOC129390678 +14 more	Deletion	not provided	GUncertain significance
Select item 160915	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x1	APBA2, ENTREP2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 148883	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3	APBA2, ARHGAP11B +29 more	Copy number gain	See cases	GPathogenic
Select item 146201	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3	APBA2, ENTREP2 +14 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 155337	GRCh38/hg38 15q13.1-13.2(chr15:28701299-30094195)x3	APBA2, ENTREP2 +15 more	Copy number gain	See cases	GLikely benign
Select item 153279	GRCh38/hg38 15q13.1-13.2(chr15:28701299-30094195)x1	APBA2, ENTREP2 +15 more	Copy number loss	See cases	GLikely benign
Select item 2645090	NM_001282468.3(GOLGA8M):c.1568G>A (p.Gly523Asp)	GOLGA8M (G523D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026287	NM_001282468.3(GOLGA8M):c.1434T>C (p.Leu478=)	GOLGA8M	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645091	NM_001282468.3(GOLGA8M):c.1422G>A (p.Lys474=)	GOLGA8M	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024897	NM_001282468.3(GOLGA8M):c.1241C>T (p.Thr414Met)	GOLGA8M (T414M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645092	NM_001282468.3(GOLGA8M):c.1201-8C>A	GOLGA8M	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645093	NM_001282468.3(GOLGA8M):c.1131G>T (p.Pro377=)	GOLGA8M	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025293	NM_001282468.3(GOLGA8M):c.643C>A (p.Arg215=)	GOLGA8M	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
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 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	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 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1809440	GRCh37/hg19 15q13.1-13.2(chr15:28934987-30386399)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808704	GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	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 1808103	GRCh37/hg19 15q13.1-13.2(chr15:28928730-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807769	GRCh37/hg19 15q13.1(chr15:28934987-29688117)x3	APBA2, ENTREP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1704347	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3	ATP10A, CYFIP1 +27 more	Copy number gain	FETAL DEMISE	GUncertain significance
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1703672	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014)	APBA2, ATP10A +30 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703671	GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399)	ENTREP2, APBA2 +28 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1684563	GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1	APBA2, ARHGAP11B +15 more	Copy number loss	See cases	GPathogenic
Select item 1340457	GRCh37/hg19 15q13.1-13.2(chr15:28934987-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340050	GRCh37/hg19 15q13.1-13.2(chr15:28394664-31122895)x1	APBA2, ARHGAP11B +8 more	Copy number loss	not provided	GUncertain significance
Select item 984434	GRCh37/hg19 15q13.1-13.2(chr15:28940039-30366124)x3	APBA2, ENTREP2 +3 more	Copy number gain	See cases	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 979413	GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1	FAN1, MTMR10 +14 more	Copy number loss	not provided	GPathogenic
Select item 979412	GRCh37/hg19 15q13.1-13.2(chr15:28976540-30386553)x3	ENTREP2, GOLGA8J +4 more	Copy number gain	not provided	GUncertain significance
Select item 974576	Single allele	PWAR5, ATP10A +28 more	Deletion	Angelman syndrome	GPathogenic
Select item 972982	GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386553)x1	GOLGA8M, NSMCE3 +4 more	Copy number loss	not provided	Gnot provided
Select item 929340	GRCh37/hg19 15q13.1-13.3(chr15:28962131-32620127)x1	APBA2, ARHGAP11B +14 more	Copy number loss	See cases	GPathogenic
Select item 816503	GRCh37/hg19 15q13.1-13.2(chr15:28962131-30737344)x1	APBA2, CHRFAM7A +5 more	Copy number loss	See cases	GUncertain significance
Select item 815693	GRCh37/hg19 15q13.1-13.3(chr15:28946433-32446830)x1	APBA2, FAN1 +14 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 687954	GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687495	GRCh37/hg19 15q13.1-13.2(chr15:28828167-30386398)x3	APBA2, ENTREP2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686310	GRCh37/hg19 15q13.1-13.2(chr15:28635057-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
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 685292	GRCh37/hg19 15q13.1(chr15:28723453-29388436)x3	APBA2, GOLGA8M	Copy number gain	not provided	GUncertain significance
Select item 684980	GRCh37/hg19 15q12-13.2(chr15:27666103-30386553)x1	APBA2, ENTREP2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 638670	Single allele	APBA2, ATP10A +32 more	Complex	Seizure +3 more	GPathogenic

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