ClinVar for Gene (Select 8123) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
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 3063376	GRCh37/hg19 15q11.2-12(chr15:24740574-25955228)x1	ATP10A, IPW +12 more	Copy number loss	not specified	GPathogenic
Select item 3063363	GRCh37/hg19 15q11.2-12(chr15:23620191-25972663)x1	ATP10A, GOLGA6L2 +17 more	Copy number loss	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 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	GABRA5, GOLGA6L26 +170 more	Copy number gain	15q11q13 microduplication syndrome	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 2685503	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	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 2663786	NC_000015.10:g.(?_23319714)_(28314256_?)del	GABRA5, PWRN4 +143 more	Deletion	Angelman syndrome	GPathogenic
Select item 2645012	NR_001292.2(SNORD108):n.23T>A	PWAR5, SNHG14 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
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 2578750	GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1	PWAR6, PWARSN +22 more	Copy number loss	not provided	GPathogenic
Select item 2578749	GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4	PWAR4, PWAR5 +27 more	Copy number gain	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 2506559	GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579)	PWAR4, PWAR5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2498629	GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1	GOLGA6L2, ATP10A +22 more	Copy number loss	not provided	GPathogenic
Select item 1879315	GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1879314	GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1	PWAR4, PWARSN +26 more	Copy number loss	not provided	GPathogenic
Select item 1809289	GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808719	GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808717	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1808668	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808643	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3	ATP10A, GABRA5 +22 more	Copy number gain	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 1808619	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1807745	GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807576	GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3	HERC2, IPW +22 more	Copy number gain	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 1707430	GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	See cases	GPathogenic
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1705939	GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1	CYFIP1, GOLGA6L2 +20 more	Copy number loss	Hypotonia	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 1703673	GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	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 1703670	GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703669	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703637	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)	ATP10A, GABRA5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1703557	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)	ATP10A, CYFIP1 +26 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 1180527	GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1172827	GRCh37/hg19 15q11.2-12(chr15:22722801-26749200)	ATP10A, CYFIP1 +22 more	Copy number gain	Cerebral palsy	Grisk factor
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1012382	GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4	PWAR1, GABRA5 +23 more	Copy number gain	not provided	GPathogenic
Select item 997087	GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460)	ATP10A, GABRA5 +22 more	Copy number gain	Epileptic encephalopathy	GPathogenic
Select item 992644	GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1	HERC2, GABRA5 +21 more	Copy number loss	not provided	GPathogenic
Select item 974578	Single allele	GABRA5, NPAP1 +22 more	Deletion	Angelman syndrome	GPathogenic
Select item 974577	Single allele	ATP10A, CYFIP1 +26 more	Deletion	Angelman syndrome	GPathogenic
Select item 974576	Single allele	PWAR5, ATP10A +28 more	Deletion	Angelman syndrome	GPathogenic
Select item 832161	NC_000015.10:g.(?_24566038)_(25781223_?)dup	ATP10A, IPW +12 more	Duplication	Angelman syndrome	GLikely pathogenic
Select item 816548	GRCh37/hg19 15q11.2(chr15:25197034-25312914)x1	PWAR5, SNORD116-1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 816547	GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1	PWAR4, SNRPN +17 more	Copy number loss	not provided	GPathogenic
Select item 815689	GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1	GOLGA6L2, SNURF +20 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 689113	GRCh37/hg19 15q11.2(chr15:24889575-25611877)x3	IPW, NPAP1 +10 more	Copy number gain	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 666599	Single allele	OCA2, PWAR1 +21 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 638670	Single allele	APBA2, ATP10A +32 more	Complex	Seizure +3 more	GPathogenic
Select item 635870	Single allele	ATP10A, GABRA5 +21 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625833	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625832	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 625746	GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)	ATP10A, GABRA5 +21 more	Copy number gain	15q11q13 microduplication syndrome	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 625718	GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)	ATP10A, GABRA5 +21 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 625717	GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625716	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625715	GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)	ATP10A, CYFIP1 +26 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 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 584203	NC_000015.10:g.(?_24566038)_(25781223_?)del	SNORD64, ATP10A +101 more	Deletion	Angelman syndrome	GPathogenic
Select item 564162	GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1	GOLGA6L2, SNRPN +17 more	Copy number loss	not provided	GPathogenic
Select item 564161	GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 564160	GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3	NPAP1, MAGEL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 564159	GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 564158	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3	GABRG3, GABRB3 +22 more	Copy number gain	not provided	GPathogenic
Select item 564157	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1	IPW, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 564156	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3	PWAR6, PWAR1 +22 more	Copy number gain	not provided	GPathogenic
Select item 564155	GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1	GABRG3, PWAR6 +22 more	Copy number loss	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 564153	GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1	GABRA5, SNURF +22 more	Copy number loss	not provided	GPathogenic
Select item 564152	GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1	PWRN2, HERC2 +22 more	Copy number loss	not provided	GPathogenic
Select item 564151	GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1	ATP10A, CYFIP1 +25 more	Copy number loss	not provided	GPathogenic

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