ATP2A1-AS1[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 148782	GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1	ATP2A1, APOBR +70 more	Copy number loss	See cases	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 more	Copy number gain	See cases	GPathogenic
Select item 150351	GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 152023	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	APOBR, ATP2A1 +61 more	Copy number loss	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
Select item 150642	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1	APOBR, ATP2A1 +66 more	Copy number loss	See cases	GPathogenic
Select item 148886	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1	APOBR, ATP2A1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 148497	GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 154502	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3	APOBR, ATP2A1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 146471	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1	LOC130058739, LOC130058740 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 146463	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3	APOBR, ATP2A1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59641	GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1	ATP2A1, ATP2A1-AS1 +48 more	Copy number loss	See cases	GPathogenic
Select item 145658	GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3	ATP2A1, ATP2A1-AS1 +44 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160911	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59293	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 1679691	Single allele	LAT, LOC112340393 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 155233	GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 153218	GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 59643	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GPathogenic
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 148525	GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 155463	GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 151536	GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1184309	NC_000016.10:g.28812342_29035950dup	LOC130058735, ATP2A1 +34 more	Duplication	not provided	GUncertain significance
Select item 149412	GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 149239	GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148483	GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59296	GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1326293	GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3	NFATC2IP-AS1, RABEP2 +36 more	Copy number gain	not provided	Gnot provided
Select item 583588	NC_000016.10:g.(?_28824392)_(28904205_?)del	ATP2A1, ATP2A1-AS1 +13 more	Deletion	Brody myopathy	GPathogenic
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 59644	GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1	ATP2A1, ATP2A1-AS1 +33 more	Copy number loss	See cases	GPathogenic
Select item 149864	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 149863	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3	ATP2A1, ATP2A1-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59684	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1	ATP2A1, ATP2A1-AS1 +31 more	Copy number loss	See cases	GPathogenic
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 148434	GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1	ATP2A1, ATP2A1-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 32783	GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	ATP2A1, ATP2A1-AS1 +28 more	Copy number loss	See cases	GPathogenic
Select item 150196	GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 464067	NC_000016.10:g.(?_28878652)_(28904225_?)del	ATP2A1-AS1, LOC130058740 +2 more	Deletion	Brody myopathy	GPathogenic
Select item 1939229	NM_004320.6(ATP2A1):c.119-15_119-13del	ATP2A1, ATP2A1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2729018	NM_004320.6(ATP2A1):c.119-16T>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 965556	NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val)	ATP2A1-AS1, ATP2A1 (A43V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1156241	NM_004320.6(ATP2A1):c.129T>C (p.Ala43=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 580368	NM_004320.6(ATP2A1):c.136+2dup	ATP2A1, ATP2A1-AS1	Duplication (splice donor variant)	Brody myopathy	GUncertain significance
Select item 2099007	NM_004320.6(ATP2A1):c.136+20G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 1257465	NM_004320.6(ATP2A1):c.136+106C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2413387	NM_004320.6(ATP2A1):c.137-19C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2027385	NM_004320.6(ATP2A1):c.137-14G>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 1579216	NM_004320.6(ATP2A1):c.137-11T>C	ATP2A1-AS1, ATP2A1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1110888	NM_004320.6(ATP2A1):c.137-10C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1630460	NM_004320.6(ATP2A1):c.137-9C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2959177	NM_004320.6(ATP2A1):c.137-7C>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 954780	NM_004320.6(ATP2A1):c.137-5C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 464074	NM_004320.6(ATP2A1):c.137-4C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1417388	NM_004320.6(ATP2A1):c.139A>G (p.Lys47Glu)	ATP2A1, ATP2A1-AS1 (K47E)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 2701793	NM_004320.6(ATP2A1):c.144C>G (p.Thr48=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1323806	NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter)	ATP2A1, ATP2A1-AS1 (W50*)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 585454	NM_004320.6(ATP2A1):c.159G>A (p.Val53=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1912289	NM_004320.6(ATP2A1):c.177C>T (p.Asp59=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1335911	NM_004320.6(ATP2A1):c.178del (p.Leu60fs)	ATP2A1, ATP2A1-AS1 (L60fs)	Deletion (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 2688641	NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)	ATP2A1, ATP2A1-AS1 (V62G)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 318766	NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln)	ATP2A1, ATP2A1-AS1 (R63Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 577576	NM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del)	ATP2A1, ATP2A1-AS1 (L67del)	Microsatellite (non-coding transcript variant +1 more)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 719515	NM_004320.6(ATP2A1):c.195C>T (p.Leu65=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 532733	NM_004320.6(ATP2A1):c.195C>A (p.Leu65=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1568138	NM_004320.6(ATP2A1):c.198C>T (p.Leu66=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1099147	NM_004320.6(ATP2A1):c.198C>G (p.Leu66=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1335912	NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg)	ATP2A1, ATP2A1-AS1 (L67R)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 1525393	NM_004320.6(ATP2A1):c.201G>A (p.Leu67=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 532736	NM_004320.6(ATP2A1):c.204C>T (p.Ala68=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1639026	NM_004320.6(ATP2A1):c.207A>C (p.Ala69=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 648380	NM_004320.6(ATP2A1):c.208T>C (p.Cys70Arg)	ATP2A1, ATP2A1-AS1 (C70R)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 1937879	NM_004320.6(ATP2A1):c.209G>A (p.Cys70Tyr)	ATP2A1, ATP2A1-AS1 (C70Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 17804	NM_004320.6(ATP2A1):c.219+1G>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 3013289	NM_004320.6(ATP2A1):c.219+5G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 1956532	NM_004320.6(ATP2A1):c.219+10G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2202618	NM_004320.6(ATP2A1):c.219+20_219+21del	ATP2A1, ATP2A1-AS1	Deletion (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign

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Items: 97