ATP1A1-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 2074994	NM_000701.8(ATP1A1):c.1344A>C (p.Ala448=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1931663	NM_000701.8(ATP1A1):c.1344A>G (p.Ala448=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912842	NM_000701.8(ATP1A1):c.1350T>C (p.Asp450=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930745	NM_000701.8(ATP1A1):c.1365A>G (p.Ala455=)	ATP1A1-AS1, ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1487876	NM_000701.8(ATP1A1):c.1377C>G (p.Cys459Trp)	ATP1A1, ATP1A1-AS1 (C428W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179454	NM_000701.8(ATP1A1):c.1384C>T (p.Leu462=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2084716	NM_000701.8(ATP1A1):c.1391G>A (p.Cys464Tyr)	ATP1A1, ATP1A1-AS1 (C464Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2494700	NM_000701.8(ATP1A1):c.1394G>A (p.Gly465Asp)	ATP1A1, ATP1A1-AS1 (G434D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639016	NM_000701.8(ATP1A1):c.1398C>T (p.Ser466=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978069	NM_000701.8(ATP1A1):c.1409T>C (p.Met470Thr)	ATP1A1, ATP1A1-AS1 (M439T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784299	NM_000701.8(ATP1A1):c.1415A>G (p.Glu472Gly)	ATP1A1, ATP1A1-AS1 (E441G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1564977	NM_000701.8(ATP1A1):c.1417A>G (p.Arg473Gly)	ATP1A1, ATP1A1-AS1 (R442G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2824986	NM_000701.8(ATP1A1):c.1418G>T (p.Arg473Ile)	ATP1A1, ATP1A1-AS1 (R442I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1636972	NM_000701.8(ATP1A1):c.1422C>T (p.Tyr474=)	ATP1A1-AS1, ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2067429	NM_000701.8(ATP1A1):c.1423G>A (p.Ala475Thr)	ATP1A1, ATP1A1-AS1 (A475T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1721988	NM_000701.8(ATP1A1):c.1423G>T (p.Ala475Ser)	ATP1A1, ATP1A1-AS1 (A444S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815197	NM_000701.8(ATP1A1):c.1424C>T (p.Ala475Val)	ATP1A1, ATP1A1-AS1 (A475V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639017	NM_000701.8(ATP1A1):c.1427A>G (p.Lys476Arg)	ATP1A1, ATP1A1-AS1 (K445R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983679	NM_000701.8(ATP1A1):c.1431C>T (p.Ile477=)	ATP1A1-AS1, ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1447725	NM_000701.8(ATP1A1):c.1432G>A (p.Val478Ile)	ATP1A1, ATP1A1-AS1 (V447I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2169929	NM_000701.8(ATP1A1):c.1434C>T (p.Val478=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2076293	NM_000701.8(ATP1A1):c.1434C>G (p.Val478=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2505759	NM_000701.8(ATP1A1):c.1437_1438del (p.Glu479fs)	ATP1A1, ATP1A1-AS1 (E448fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1973410	NM_000701.8(ATP1A1):c.1449C>T (p.Asn483=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2497996	NM_000701.8(ATP1A1):c.1450T>C (p.Ser484Pro)	ATP1A1, ATP1A1-AS1 (S453P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985153	NM_000701.8(ATP1A1):c.1452C>A (p.Ser484=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941378	NM_000701.8(ATP1A1):c.1458C>T (p.Asn486=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639018	NM_000701.8(ATP1A1):c.1464C>T (p.Tyr488=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941008	NM_000701.8(ATP1A1):c.1467+8G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3023719	NM_000701.8(ATP1A1):c.1467+10T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1552338	NM_000701.8(ATP1A1):c.1467+11C>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2767703	NM_000701.8(ATP1A1):c.1468-20G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963580	NM_000701.8(ATP1A1):c.1468-18C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988915	NM_000701.8(ATP1A1):c.1468-9C>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416029	NM_000701.8(ATP1A1):c.1468-9C>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175744	NM_000701.8(ATP1A1):c.1468-8C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1999331	NM_000701.8(ATP1A1):c.1473T>C (p.Ser491=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312701	NM_000701.8(ATP1A1):c.1478A>C (p.His493Pro)	ATP1A1, ATP1A1-AS1 (H462P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922778	NM_000701.8(ATP1A1):c.1491C>T (p.Asn497=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943507	NM_000701.8(ATP1A1):c.1494A>G (p.Thr498=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910708	NM_000701.8(ATP1A1):c.1496C>G (p.Ser499Trp)	ATP1A1, ATP1A1-AS1 (S499W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910512	NM_000701.8(ATP1A1):c.1496C>T (p.Ser499Leu)	ATP1A1, ATP1A1-AS1 (S468L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1907914	NM_000701.8(ATP1A1):c.1497G>A (p.Ser499=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078809	NM_000701.8(ATP1A1):c.1498G>A (p.Glu500Lys)	ATP1A1, ATP1A1-AS1 (E500K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3012590	NM_000701.8(ATP1A1):c.1509C>A (p.His503Gln)	ATP1A1, ATP1A1-AS1 (H472Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609696	NM_000701.8(ATP1A1):c.1509C>T (p.His503=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1538830	NM_000701.8(ATP1A1):c.1512G>A (p.Leu504=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062480	NM_000701.8(ATP1A1):c.1527C>G (p.Gly509=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654566	NM_000701.8(ATP1A1):c.1527C>T (p.Gly509=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986874	NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys)	ATP1A1, ATP1A1-AS1 (R482K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2032630	NM_000701.8(ATP1A1):c.1549_1660+518del	ATP1A1, ATP1A1-AS1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2820204	NM_000701.8(ATP1A1):c.1548C>T (p.Asp516=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794414	NM_000701.8(ATP1A1):c.1549C>T (p.Arg517Cys)	ATP1A1, ATP1A1-AS1 (R517C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413437	NM_000701.8(ATP1A1):c.1550G>A (p.Arg517His)	ATP1A1, ATP1A1-AS1 (R486H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789221	NM_000701.8(ATP1A1):c.1556G>A (p.Ser519Asn)	ATP1A1, ATP1A1-AS1 (S488N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294145	NM_000701.8(ATP1A1):c.1564C>T (p.Leu522Phe)	ATP1A1, ATP1A1-AS1 (L491F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964499	NM_000701.8(ATP1A1):c.1566C>T (p.Leu522=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575048	NM_000701.8(ATP1A1):c.1572C>T (p.His524=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914599	NM_000701.8(ATP1A1):c.1573G>A (p.Gly525Ser)	ATP1A1, ATP1A1-AS1 (G494S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427033	NM_000701.8(ATP1A1):c.1574G>A (p.Gly525Asp)	ATP1A1, ATP1A1-AS1 (G494D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058176	NM_000701.8(ATP1A1):c.1575C>A (p.Gly525=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720536	NM_000701.8(ATP1A1):c.1576A>G (p.Lys526Glu)	ATP1A1, ATP1A1-AS1 (K495E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450131	NM_000701.8(ATP1A1):c.1578G>A (p.Lys526=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906691	NM_000701.8(ATP1A1):c.1588C>T (p.Leu530=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558557	NM_000701.8(ATP1A1):c.1593T>C (p.Asp531=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872406	NM_000701.8(ATP1A1):c.1608C>G (p.Asp536Glu)	ATP1A1, ATP1A1-AS1 (D505E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609503	NM_000701.8(ATP1A1):c.1608C>T (p.Asp536=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192730	NM_000701.8(ATP1A1):c.1620C>T (p.Asn540=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997752	NM_000701.8(ATP1A1):c.1621G>A (p.Ala541Thr)	ATP1A1, ATP1A1-AS1 (A510T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116770	NM_000701.8(ATP1A1):c.1623C>T (p.Ala541=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934147	NM_000701.8(ATP1A1):c.1625A>G (p.Tyr542Cys)	ATP1A1, ATP1A1-AS1 (Y511C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092733	NM_000701.8(ATP1A1):c.1634T>G (p.Leu545Arg)	ATP1A1, ATP1A1-AS1 (L514R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718833	NM_000701.8(ATP1A1):c.1639G>A (p.Gly547Ser)	ATP1A1, ATP1A1-AS1 (G516S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674680	NM_000701.8(ATP1A1):c.1644C>T (p.Leu548=)	ATP1A1-AS1, ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299690	NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)	ATP1A1-AS1, ATP1A1 (G518R +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GConflicting classifications of pathogenicity
Select item 1801071	NM_000701.8(ATP1A1):c.1652G>A (p.Arg551Gln)	ATP1A1, ATP1A1-AS1 (R520Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941899	NM_000701.8(ATP1A1):c.1656C>T (p.Val552=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337829	NM_000701.8(ATP1A1):c.1660+1G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3005262	NM_000701.8(ATP1A1):c.1660+4_1660+12dup	ATP1A1, ATP1A1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2988526	NM_000701.8(ATP1A1):c.1660+8del	ATP1A1, ATP1A1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1962879	NM_000701.8(ATP1A1):c.1660+12del	ATP1A1, ATP1A1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1542978	NM_000701.8(ATP1A1):c.1660+16G>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548866	NM_000701.8(ATP1A1):c.1660+20A>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719122	NM_000701.8(ATP1A1):c.1661-19G>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116671	NM_000701.8(ATP1A1):c.1661-18C>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078295	NM_000701.8(ATP1A1):c.1661-7_1661-5del	ATP1A1, ATP1A1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1602310	NM_000701.8(ATP1A1):c.1661-9T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652624	NM_000701.8(ATP1A1):c.1661-4G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2869882	NM_000701.8(ATP1A1):c.1671C>A (p.His557Gln)	ATP1A1, ATP1A1-AS1 (H526Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639019	NM_000701.8(ATP1A1):c.1674C>T (p.Leu558=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021065	NM_000701.8(ATP1A1):c.1680G>A (p.Leu560=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414966	NM_000701.8(ATP1A1):c.1691A>G (p.Gln564Arg)	ATP1A1, ATP1A1-AS1 (Q533R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2187557	NM_000701.8(ATP1A1):c.1698T>C (p.Pro566=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711645	NM_000701.8(ATP1A1):c.1709A>G (p.Gln570Arg)	ATP1A1, ATP1A1-AS1 (Q539R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988730	NM_000701.8(ATP1A1):c.1718C>A (p.Thr573Asn)	ATP1A1, ATP1A1-AS1 (T542N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484526	NM_000701.8(ATP1A1):c.1718C>T (p.Thr573Ile)	ATP1A1, ATP1A1-AS1 (T573I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584568	NM_000701.8(ATP1A1):c.1722C>T (p.Asp574=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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