ClinVar for Gene (Select 653720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148890	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28962791)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
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 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 3026287	NM_001282468.3(GOLGA8M):c.1434T>C (p.Leu478=)	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 3024897	NM_001282468.3(GOLGA8M):c.1241C>T (p.Thr414Met)	GOLGA8M (T414M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2645093	NM_001282468.3(GOLGA8M):c.1131G>T (p.Pro377=)	GOLGA8M	Single nucleotide variant (synonymous 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 2645091	NM_001282468.3(GOLGA8M):c.1422G>A (p.Lys474=)	GOLGA8M	Single nucleotide variant (synonymous variant)	not provided	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 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 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication 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 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	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 1184308	NC_000015.10:g.28694170_30078717del	LOC129390677, LOC129390678 +14 more	Deletion	not provided	GUncertain significance
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
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
Select item 625745	GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)	APBA2, ATP10A +23 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
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 625713	GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)	NIPA1, NIPA2 +27 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 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 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625271	Single allele	NSMCE3, TJP1 +3 more	Deletion	Intellectual disability	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 564172	GRCh37/hg19 15q13.1-13.3(chr15:28968634-32444044)x3	APBA2, ARHGAP11B +14 more	Copy number gain	not provided	GUncertain significance
Select item 564171	GRCh37/hg19 15q13.1-13.2(chr15:28968634-31073669)x3	APBA2, ARHGAP11B +7 more	Copy number gain	not provided	GUncertain significance
Select item 564170	GRCh37/hg19 15q13.1-13.2(chr15:28946433-30369944)x3	APBA2, ENTREP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564169	GRCh37/hg19 15q13.1-13.2(chr15:28934986-30386553)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564168	GRCh37/hg19 15q13.1-13.2(chr15:28376935-31108698)x3	APBA2, ARHGAP11B +8 more	Copy number gain	not provided	GPathogenic
Select item 564154	GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1	ATP10A, GABRA5 +23 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 564149	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4	APBA2, ARHGAP11B +42 more	Copy number gain	not provided	GPathogenic
Select item 564148	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3	APBA2, ARHGAP11B +42 more	Copy number gain	not provided	GPathogenic
Select item 564147	GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4	APBA2, ARHGAP11B +35 more	Copy number gain	not provided	GPathogenic
Select item 564146	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1	APBA2, ATP10A +32 more	Copy number loss	not provided	GPathogenic
Select item 564145	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 545174	Single allele	APBA2, ENTREP2 +19 more	Duplication	Autism	GLikely pathogenic
Select item 545173	Single allele	GOLGA8F, PWRN2 +151 more	Duplication	Autism	GPathogenic
Select item 545171	Single allele	SNORD116-28, SNORD116-29 +153 more	Duplication	Schizophrenia	GPathogenic
Select item 545163	Single allele	APBA2, ARHGAP11B +228 more	Duplication	Autism	GPathogenic
Select item 523251	GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)	GABRA5, GABRB3 +22 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443641	GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3	ATP10A, GABRA5 +23 more	Copy number gain	See cases	GLikely pathogenic
Select item 443510	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3	ATP10A, GABRA5 +23 more	Copy number gain	See cases	GLikely pathogenic
Select item 443311	GRCh37/hg19 15q13.1-13.2(chr15:28968634-30386553)x3	APBA2, ENTREP2 +4 more	Copy number gain	See cases	GLikely benign
Select item 443127	GRCh37/hg19 15q13.1-13.3(chr15:28547475-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	See cases	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 +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442845	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3	ATP10A, GABRA5 +23 more	Copy number gain	See cases	GPathogenic
Select item 442621	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3	APBA2, ATP10A +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 442380	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3	ATP10A, CYFIP1 +27 more	Copy number gain	See cases	GPathogenic
Select item 442273	GRCh37/hg19 15q13.1-13.2(chr15:28823722-30386553)x3	APBA2, ENTREP2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 442241	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4	APBA2, ATP10A +31 more	Copy number gain	See cases	GPathogenic
Select item 442097	GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4	APBA2, ARHGAP11B +35 more	Copy number gain	See cases	GPathogenic
Select item 442000	GRCh37/hg19 15q12-13.1(chr15:28036720-29244373)x3	APBA2, GOLGA8M +2 more	Copy number gain	See cases	GUncertain significance
Select item 441981	GRCh37/hg19 15q13.1-13.2(chr15:28968634-30369944)x3	APBA2, ENTREP2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441860	GRCh37/hg19 15q13.1-13.2(chr15:28946433-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	See cases	GLikely benign
Select item 441782	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4	APBA2, ATP10A +32 more	Copy number gain	See cases	GPathogenic
Select item 441618	GRCh37/hg19 15q13.1-13.2(chr15:28958778-30370018)x1	APBA2, ENTREP2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 441588	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1	ATP10A, CYFIP1 +27 more	Copy number loss	See cases	GPathogenic

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