ATP1A4[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 788842	NM_144699.4(ATP1A4):c.6G>A (p.Gly2=)	ATP1A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131483	NM_144699.4(ATP1A4):c.7C>T (p.Leu3Phe)	ATP1A4 (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530559	NM_144699.4(ATP1A4):c.32C>T (p.Ala11Val)	ATP1A4 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710877	NM_144699.4(ATP1A4):c.55C>A (p.Arg19=)	ATP1A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2520134	NM_144699.4(ATP1A4):c.146T>A (p.Met49Lys)	ATP1A4 (M49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222285	NM_144699.4(ATP1A4):c.164C>T (p.Thr55Ile)	ATP1A4 (T55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337373	NM_144699.4(ATP1A4):c.182C>G (p.Thr61Ser)	ATP1A4 (T61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131478	NM_144699.4(ATP1A4):c.218A>G (p.His73Arg)	ATP1A4 (H73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206614	NM_144699.4(ATP1A4):c.245G>A (p.Arg82Gln)	ATP1A4 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375422	NM_144699.4(ATP1A4):c.277A>C (p.Thr93Pro)	ATP1A4 (T93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790492	NM_144699.4(ATP1A4):c.315C>T (p.Phe105=)	ATP1A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2527776	NM_144699.4(ATP1A4):c.377A>G (p.Gln126Arg)	ATP1A4 (Q126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306314	NM_144699.4(ATP1A4):c.439G>A (p.Val147Met)	ATP1A4 (V147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725558	NM_144699.4(ATP1A4):c.526-4A>C	ATP1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3131482	NM_144699.4(ATP1A4):c.542G>A (p.Arg181Gln)	ATP1A4 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536204	NM_144699.4(ATP1A4):c.590A>G (p.Asp197Gly)	ATP1A4 (D197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469325	NM_144699.4(ATP1A4):c.635G>A (p.Arg212Gln)	ATP1A4 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362081	NM_144699.4(ATP1A4):c.694C>G (p.Pro232Ala)	ATP1A4 (P232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457738	NM_144699.4(ATP1A4):c.806C>T (p.Thr269Met)	ATP1A4 (T269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762511	NM_144699.4(ATP1A4):c.876C>T (p.Ile292=)	ATP1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456439	NM_144699.4(ATP1A4):c.1081C>T (p.Arg361Trp)	ATP1A4 (R361W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238181	NM_144699.4(ATP1A4):c.1082G>A (p.Arg361Gln)	ATP1A4 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131470	NM_144699.4(ATP1A4):c.1112C>T (p.Ala371Val)	ATP1A4 (A371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256003	NM_144699.4(ATP1A4):c.1160G>A (p.Gly387Asp)	ATP1A4 (G387D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131471	NM_144699.4(ATP1A4):c.1186G>A (p.Val396Ile)	ATP1A4 (V396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608650	NM_144699.4(ATP1A4):c.1213G>A (p.Val405Met)	ATP1A4 (V405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523762	NM_144699.4(ATP1A4):c.1223C>T (p.Ala408Val)	ATP1A4 (A408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131473	NM_144699.4(ATP1A4):c.1292G>A (p.Arg431Gln)	ATP1A4 (R431Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280468	NM_144699.4(ATP1A4):c.1390C>T (p.Leu464Phe)	ATP1A4 (L464F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220390	NM_144699.4(ATP1A4):c.1446C>A (p.Asn482Lys)	ATP1A4 (N482K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131474	NM_144699.4(ATP1A4):c.1475C>A (p.Ser492Tyr)	ATP1A4 (S492Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263382	NM_144699.4(ATP1A4):c.1507C>T (p.Arg503Trp)	ATP1A4 (R503W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457341	NM_144699.4(ATP1A4):c.1508G>A (p.Arg503Gln)	ATP1A4 (R503Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300545	NM_144699.4(ATP1A4):c.1520C>T (p.Ser507Phe)	ATP1A4 (S507F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206348	NM_144699.4(ATP1A4):c.1574G>A (p.Cys525Tyr)	ATP1A4 (C525Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725705	NM_144699.4(ATP1A4):c.1622T>G (p.Met541Arg)	ATP1A4 (M541R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3131475	NM_144699.4(ATP1A4):c.1646A>G (p.Tyr549Cys)	ATP1A4 (Y549C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594209	NM_144699.4(ATP1A4):c.1661G>T (p.Gly554Val)	ATP1A4 (G554V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131476	NM_144699.4(ATP1A4):c.1666G>T (p.Gly556Trp)	ATP1A4 (G556W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546643	NM_144699.4(ATP1A4):c.1745T>C (p.Ile582Thr)	ATP1A4 (I582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782800	NM_144699.4(ATP1A4):c.1832A>G (p.Lys611Arg)	ATP1A4 (K611R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2238921	NM_144699.4(ATP1A4):c.1838G>C (p.Arg613Pro)	ATP1A4 (R613P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131477	NM_144699.4(ATP1A4):c.1859T>C (p.Ile620Thr)	ATP1A4 (I620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357168	NM_144699.4(ATP1A4):c.1886C>T (p.Thr629Ile)	ATP1A4 (T629I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332600	NM_144699.4(ATP1A4):c.1904A>C (p.Lys635Thr)	ATP1A4 (K635T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323794	NM_144699.4(ATP1A4):c.1934A>C (p.Glu645Ala)	ATP1A4 (E645A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289572	NM_144699.4(ATP1A4):c.1951G>A (p.Ala651Thr)	ATP1A4 (A651T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601309	NM_144699.4(ATP1A4):c.1957C>T (p.Arg653Trp)	ATP1A4 (R653W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490757	NM_144699.4(ATP1A4):c.2082C>G (p.Ile694Met)	ATP1A4, LOC126805891 (I694M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325054	NM_144699.4(ATP1A4):c.2139G>C (p.Arg713Ser)	ATP1A4, LOC126805891 (R713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383571	NM_144699.4(ATP1A4):c.2155G>A (p.Ala719Thr)	ATP1A4, LOC126805891 (A719T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131479	NM_144699.4(ATP1A4):c.2290A>G (p.Ile764Val)	ATP1A4, LOC126805891 (I764V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463981	NM_144699.4(ATP1A4):c.2329A>G (p.Asn777Asp)	ATP1A4 (N777D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408102	NM_144699.4(ATP1A4):c.2462A>C (p.Asp821Ala)	ATP1A4 (D821A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688640	NM_144699.4(ATP1A4):c.2539A>T (p.Thr847Ser)	ATP1A4 (T847S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3131480	NM_144699.4(ATP1A4):c.2567T>C (p.Ile856Thr)	ATP1A4 (I856T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566042	NM_144699.4(ATP1A4):c.2593A>T (p.Met865Leu)	ATP1A4 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616163	NM_144699.4(ATP1A4):c.2725G>A (p.Gly909Arg)	ATP1A4 (G909R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131481	NM_144699.4(ATP1A4):c.2804T>C (p.Val935Ala)	ATP1A4 (V935A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247564	NM_144699.4(ATP1A4):c.2842A>G (p.Asn948Asp)	ATP1A4 (N84D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458608	NM_144699.4(ATP1A4):c.2878T>A (p.Leu960Ile)	ATP1A4 (L960I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334918	NM_144699.4(ATP1A4):c.2905C>T (p.Leu969Phe)	ATP1A4 (L105F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598478	NM_144699.4(ATP1A4):c.2938A>T (p.Met980Leu)	ATP1A4 (M116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401685	NM_144699.4(ATP1A4):c.2944G>A (p.Val982Met)	ATP1A4 (V982M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284290	NM_144699.4(ATP1A4):c.2990C>A (p.Ala997Asp)	ATP1A4 (A133D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393907	NM_144699.4(ATP1A4):c.3083A>G (p.Tyr1028Cys)	ATP1A4 (Y164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1345184	NC_000001.10:g.(?_160090676)_(160327063_?)dup	DCAF8, ATP1A2 +7 more	Duplication	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221376	GRCh37/hg19 1q23.2(chr1:160111098-160183245)x3	ATP1A2, ATP1A4 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 80