ATP2B4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 182

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 1626186	NM_001684.5(ATP2B4):c.5C>T (p.Thr2Met)	ATP2B4 (T2M)	Single nucleotide variant (missense variant)	ATP2B4-related condition +1 more	GBenign
Select item 705092	NM_001684.5(ATP2B4):c.19C>A (p.Arg7Ser)	ATP2B4 (R7S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 703903	NM_001684.5(ATP2B4):c.19C>T (p.Arg7Cys)	ATP2B4 (R7C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1505093	NM_001684.5(ATP2B4):c.20G>A (p.Arg7His)	ATP2B4 (R7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643189	NM_001684.5(ATP2B4):c.39G>A (p.Ser13=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631913	NM_001684.5(ATP2B4):c.41T>C (p.Met14Thr)	ATP2B4 (M14T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2279332	NM_001684.5(ATP2B4):c.52C>A (p.Arg18Ser)	ATP2B4 (R18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2986609	NM_001684.5(ATP2B4):c.53G>A (p.Arg18His)	ATP2B4 (R18H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333328	NM_001684.5(ATP2B4):c.61G>A (p.Asp21Asn)	ATP2B4 (D21N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629689	NM_001684.5(ATP2B4):c.62A>C (p.Asp21Ala)	ATP2B4 (D21A)	Single nucleotide variant (missense variant)	ATP2B4-related condition	GUncertain significance
Select item 1598820	NM_001684.5(ATP2B4):c.111A>G (p.Ser37=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1584699	NM_001684.5(ATP2B4):c.136G>A (p.Val46Ile)	ATP2B4 (V46I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2234771	NM_001684.5(ATP2B4):c.149G>C (p.Gly50Ala)	ATP2B4 (G50A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239057	NM_001684.5(ATP2B4):c.151G>A (p.Val51Ile)	ATP2B4 (V51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2042901	NM_001684.5(ATP2B4):c.162C>T (p.Leu54=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009191	NM_001684.5(ATP2B4):c.179C>T (p.Thr60Ile)	ATP2B4 (T60I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2396216	NM_001684.5(ATP2B4):c.220G>A (p.Glu74Lys)	ATP2B4 (E74K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264587	NM_001684.5(ATP2B4):c.234G>C (p.Gln78His)	ATP2B4 (Q78H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1600570	NM_001684.5(ATP2B4):c.318T>C (p.Leu106=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556781	NM_001684.5(ATP2B4):c.323T>C (p.Ile108Thr)	ATP2B4 (I108T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494372	NM_001684.5(ATP2B4):c.331A>T (p.Ile111Phe)	ATP2B4 (I111F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2989802	NM_001684.5(ATP2B4):c.342C>T (p.Ile114=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369577	NM_001684.5(ATP2B4):c.368G>A (p.Arg123His)	ATP2B4 (R123H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393853	NM_001684.5(ATP2B4):c.415C>T (p.Pro139Ser)	ATP2B4 (P139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 734727	NM_001684.5(ATP2B4):c.423T>C (p.Asp141=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948379	NM_001684.5(ATP2B4):c.547C>T (p.Arg183Cys)	ATP2B4 (R183C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719758	NM_001684.5(ATP2B4):c.552T>G (p.Ile184Met)	ATP2B4 (I184M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976092	NM_001684.5(ATP2B4):c.561G>A (p.Glu187=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2420810	NM_001684.5(ATP2B4):c.585C>T (p.Asn195=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936256	NM_001684.5(ATP2B4):c.650-6C>T	ATP2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2610534	NM_001684.5(ATP2B4):c.652G>T (p.Asp218Tyr)	ATP2B4 (D218Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1626597	NM_001684.5(ATP2B4):c.687G>A (p.Gly229=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related condition +1 more	GBenign/Likely benign
Select item 2693838	NM_001684.5(ATP2B4):c.753C>G (p.Asp251Glu)	ATP2B4 (D251E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605037	NM_001684.5(ATP2B4):c.775+9C>G	ATP2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1715445	NM_001684.5(ATP2B4):c.832T>G (p.Ser278Ala)	ATP2B4 (S278A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967701	NM_001684.5(ATP2B4):c.863G>A (p.Gly288Glu)	ATP2B4 (G288E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 705093	NM_001684.5(ATP2B4):c.863G>T (p.Gly288Val)	ATP2B4 (G288V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2547229	NM_001684.5(ATP2B4):c.865G>C (p.Val289Leu)	ATP2B4 (V289L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312588	NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys)	ATP2B4 (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688646	NM_001684.5(ATP2B4):c.902-2A>G	ATP2B4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3050245	NM_001684.5(ATP2B4):c.927T>C (p.Asn309=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related condition	GLikely benign
Select item 2764324	NM_001684.5(ATP2B4):c.938-3C>T	ATP2B4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1914296	NM_001684.5(ATP2B4):c.951C>T (p.Asp317=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066524	NM_001684.5(ATP2B4):c.996C>T (p.Ile332=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161476	NM_001684.5(ATP2B4):c.999C>A (p.Asp333Glu)	ATP2B4 (D333E)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 703837	NM_001684.5(ATP2B4):c.1025T>C (p.Val342Ala)	ATP2B4 (V342A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1663819	NM_001684.5(ATP2B4):c.1059G>A (p.Gln353=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605519	NM_001684.5(ATP2B4):c.1088T>C (p.Ile363Thr)	ATP2B4 (I363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1901339	NM_001684.5(ATP2B4):c.1092G>A (p.Gly364=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related condition +1 more	GLikely benign
Select item 1598801	NM_001684.5(ATP2B4):c.1122G>A (p.Thr374=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1956870	NM_001684.5(ATP2B4):c.1151T>C (p.Ile384Thr)	ATP2B4 (I384T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408401	NM_001684.5(ATP2B4):c.1228T>G (p.Phe410Val)	ATP2B4 (F410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2697052	NM_001684.5(ATP2B4):c.1269G>A (p.Glu423=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057705	NM_001684.5(ATP2B4):c.1410G>A (p.Leu470=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related condition	GLikely benign
Select item 1400320	NM_001684.5(ATP2B4):c.1421G>A (p.Arg474His)	ATP2B4 (R474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327763	NM_001684.5(ATP2B4):c.1450G>T (p.Gly484Cys)	ATP2B4 (G484C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1989519	NM_001684.5(ATP2B4):c.1463G>A (p.Arg488His)	ATP2B4 (R488H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727165	NM_001684.5(ATP2B4):c.1500C>T (p.Val500=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406792	NM_001684.5(ATP2B4):c.1504G>A (p.Asp502Asn)	ATP2B4 (D502N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 703944	NM_001684.5(ATP2B4):c.1545C>T (p.Thr515=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related condition +1 more	GBenign
Select item 1578067	NM_001684.5(ATP2B4):c.1557+18G>A	ATP2B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973914	NM_001684.5(ATP2B4):c.1558C>G (p.Pro520Ala)	ATP2B4 (P520A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196622	NM_001684.5(ATP2B4):c.1585C>T (p.Arg529Trp)	ATP2B4 (R529W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606963	NM_001684.5(ATP2B4):c.1605C>T (p.Thr535=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related condition +1 more	GBenign/Likely benign
Select item 1507243	NM_001684.5(ATP2B4):c.1606G>A (p.Glu536Lys)	ATP2B4 (E536K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512221	NM_001684.5(ATP2B4):c.1627G>A (p.Val543Ile)	ATP2B4 (V543I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201123	NM_001684.5(ATP2B4):c.1656T>A (p.Ala552=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324066	NM_001684.5(ATP2B4):c.1660C>T (p.Arg554Cys)	ATP2B4 (R554C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 703855	NM_001684.5(ATP2B4):c.1665T>C (p.Asn555=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2639819	NM_001684.5(ATP2B4):c.1674C>T (p.Pro558=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2782500	NM_001684.5(ATP2B4):c.1688A>G (p.Tyr563Cys)	ATP2B4 (Y563C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058863	NM_001684.5(ATP2B4):c.1748A>G (p.Asn583Ser)	ATP2B4 (N583S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986858	NM_001684.5(ATP2B4):c.1776C>T (p.Gly592=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956886	NM_001684.5(ATP2B4):c.1799+12C>T	ATP2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631168	NM_001684.5(ATP2B4):c.1799+17A>G	ATP2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3057831	NM_001684.5(ATP2B4):c.1800-9C>T	ATP2B4	Single nucleotide variant (intron variant)	ATP2B4-related condition	GLikely benign
Select item 2459913	NM_001684.5(ATP2B4):c.1820G>A (p.Arg607Gln)	ATP2B4 (R607Q)	Single nucleotide variant (missense variant)	ATP2B4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1151049	NM_001684.5(ATP2B4):c.1826G>C (p.Gly609Ala)	ATP2B4 (G609A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 704204	NM_001684.5(ATP2B4):c.1839A>T (p.Pro613=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601706	NM_001684.5(ATP2B4):c.1846A>C (p.Asn616His)	ATP2B4 (N616H)	Single nucleotide variant (missense variant)	ATP2B4-related condition +1 more	GBenign/Likely benign
Select item 2555391	NM_001684.5(ATP2B4):c.1871G>A (p.Arg624His)	ATP2B4 (R624H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480354	NM_001684.5(ATP2B4):c.1882G>A (p.Glu628Lys)	ATP2B4 (E628K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889882	NM_001684.5(ATP2B4):c.1900G>A (p.Gly634Arg)	ATP2B4 (G634R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605038	NM_001684.5(ATP2B4):c.1902A>C (p.Gly634=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058129	NM_001684.5(ATP2B4):c.1918A>G (p.Ile640Val)	ATP2B4 (I640V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420905	NM_001684.5(ATP2B4):c.1936G>A (p.Asp646Asn)	ATP2B4 (D646N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703856	NM_001684.5(ATP2B4):c.1968T>C (p.Asn656=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2993409	NM_001684.5(ATP2B4):c.1974C>A (p.Ile658=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706579	NM_001684.5(ATP2B4):c.1981G>A (p.Glu661Lys)	ATP2B4 (E661K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2954888	NM_001684.5(ATP2B4):c.1995C>T (p.Ile665=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1592848	NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr)	ATP2B4 (A666T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2802653	NM_001684.5(ATP2B4):c.1998G>A (p.Ala666=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589766	NM_001684.5(ATP2B4):c.2032-3T>C	ATP2B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2454544	NM_001684.5(ATP2B4):c.2048C>G (p.Ala683Gly)	ATP2B4 (A683G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944797	NM_001684.5(ATP2B4):c.2052A>G (p.Lys684=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688645	NM_001684.5(ATP2B4):c.2088A>G (p.Thr696=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2639820	NM_001684.5(ATP2B4):c.2088A>T (p.Thr696=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850968	NM_001684.5(ATP2B4):c.2110C>T (p.Arg704Trp)	ATP2B4 (R704W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020971	NM_001684.5(ATP2B4):c.2116A>G (p.Ile706Val)	ATP2B4 (I706V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2