ATP1A4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	ATP1A2, COPA +7 more	Duplication	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80