ClinVar for Gene (Select 493) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235874	NM_001684.5(ATP2B4):c.1030G>A (p.Val344Met)	ATP2B4 (V344M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3131578	NM_001684.5(ATP2B4):c.367C>T (p.Arg123Cys)	ATP2B4 (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131577	NM_001684.5(ATP2B4):c.3610T>C (p.Ser1204Pro)	ATP2B4 (S1204P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3131576	NM_001684.5(ATP2B4):c.3511G>T (p.Gly1171Cys)	ATP2B4 (G1171C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3131575	NM_001684.5(ATP2B4):c.3478T>C (p.Ser1160Pro)	ATP2B4 (S1160P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3131573	NM_001684.5(ATP2B4):c.3116A>G (p.Glu1039Gly)	ATP2B4 (E1039G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131571	NM_001684.5(ATP2B4):c.2845A>G (p.Lys949Glu)	ATP2B4 (K949E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131570	NM_001684.5(ATP2B4):c.2708G>A (p.Arg903His)	ATP2B4 (R903H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131569	NM_001684.5(ATP2B4):c.2625G>A (p.Met875Ile)	ATP2B4 (M875I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131568	NM_001684.5(ATP2B4):c.2554G>A (p.Val852Met)	ATP2B4 (V852M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131566	NM_001684.5(ATP2B4):c.2062G>A (p.Ala688Thr)	ATP2B4 (A688T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131565	NM_001684.5(ATP2B4):c.1931A>G (p.Asp644Gly)	ATP2B4 (D644G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131564	NM_001684.5(ATP2B4):c.1928G>A (p.Arg643Gln)	ATP2B4 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131563	NM_001684.5(ATP2B4):c.1879A>G (p.Ile627Val)	ATP2B4 (I627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131562	NM_001684.5(ATP2B4):c.1870C>T (p.Arg624Cys)	ATP2B4 (R624C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131560	NM_001684.5(ATP2B4):c.1462C>T (p.Arg488Cys)	ATP2B4 (R488C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131559	NM_001684.5(ATP2B4):c.1414A>G (p.Met472Val)	ATP2B4 (M472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131558	NM_001684.5(ATP2B4):c.1381G>A (p.Ala461Thr)	ATP2B4 (A461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131556	NM_001684.5(ATP2B4):c.1135A>G (p.Ile379Val)	ATP2B4 (I379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3058446	NM_001684.5(ATP2B4):c.3576C>T (p.Pro1192=)	ATP2B4	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2B4-related disorder	GLikely benign
Select item 3057831	NM_001684.5(ATP2B4):c.1800-9C>T	ATP2B4	Single nucleotide variant (intron variant)	ATP2B4-related disorder	GLikely benign
Select item 3057705	NM_001684.5(ATP2B4):c.1410G>A (p.Leu470=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related disorder	GLikely benign
Select item 3050245	NM_001684.5(ATP2B4):c.927T>C (p.Asn309=)	ATP2B4	Single nucleotide variant (synonymous variant)	ATP2B4-related disorder	GLikely benign
Select item 3048638	NM_001684.5(ATP2B4):c.3581C>T (p.Ser1194Leu)	ATP2B4 (S1194L)	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2B4-related disorder	GBenign
Select item 3034789	NM_001684.5(ATP2B4):c.3555T>C (p.Asp1185=)	ATP2B4	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2B4-related disorder	GLikely benign
Select item 3020971	NM_001684.5(ATP2B4):c.2116A>G (p.Ile706Val)	ATP2B4 (I706V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993409	NM_001684.5(ATP2B4):c.1974C>A (p.Ile658=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991589	NM_001684.5(ATP2B4):c.2492T>C (p.Met831Thr)	ATP2B4 (M831T)	Single nucleotide variant (missense variant)	not provided	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 2986858	NM_001684.5(ATP2B4):c.1776C>T (p.Gly592=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2977861	NM_001684.5(ATP2B4):c.2194C>T (p.Arg732Cys)	ATP2B4 (R732C)	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 2973914	NM_001684.5(ATP2B4):c.1558C>G (p.Pro520Ala)	ATP2B4 (P520A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971708	NM_001684.5(ATP2B4):c.2289C>T (p.Thr763=)	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 2954888	NM_001684.5(ATP2B4):c.1995C>T (p.Ile665=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2867944	NM_001684.5(ATP2B4):c.2264G>T (p.Arg755Leu)	ATP2B4 (R755L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863536	NM_001684.5(ATP2B4):c.2775C>G (p.Phe925Leu)	ATP2B4 (F925L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2852630	NM_001684.5(ATP2B4):c.2682C>G (p.Pro894=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852375	NM_001684.5(ATP2B4):c.2730T>G (p.Pro910=)	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 2845536	NM_001684.5(ATP2B4):c.3133-6T>G	ATP2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802653	NM_001684.5(ATP2B4):c.1998G>A (p.Ala666=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785498	NM_001684.5(ATP2B4):c.3025-19G>A	ATP2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2764324	NM_001684.5(ATP2B4):c.938-3C>T	ATP2B4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2728452	NM_001684.5(ATP2B4):c.2824T>C (p.Phe942Leu)	ATP2B4 (F942L)	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 2719758	NM_001684.5(ATP2B4):c.552T>G (p.Ile184Met)	ATP2B4 (I184M)	Single nucleotide variant (missense variant)	not provided	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 2693838	NM_001684.5(ATP2B4):c.753C>G (p.Asp251Glu)	ATP2B4 (D251E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688647	NM_001684.5(ATP2B4):c.2902G>A (p.Val968Met)	ATP2B4 (V968M)	Single nucleotide variant (missense variant)	not provided	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 2688645	NM_001684.5(ATP2B4):c.2088A>G (p.Thr696=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2639821	NM_001684.5(ATP2B4):c.3598A>G (p.Ser1200Gly)	ATP2B4 (S1200G)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2639819	NM_001684.5(ATP2B4):c.1674C>T (p.Pro558=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2629689	NM_001684.5(ATP2B4):c.62A>C (p.Asp21Ala)	ATP2B4 (D21A)	Single nucleotide variant (missense variant)	ATP2B4-related disorder	GUncertain significance
Select item 2610534	NM_001684.5(ATP2B4):c.652G>T (p.Asp218Tyr)	ATP2B4 (D218Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605519	NM_001684.5(ATP2B4):c.1088T>C (p.Ile363Thr)	ATP2B4 (I363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591850	NM_001684.5(ATP2B4):c.2330G>A (p.Arg777Gln)	ATP2B4 (R777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556781	NM_001684.5(ATP2B4):c.323T>C (p.Ile108Thr)	ATP2B4 (I108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555391	NM_001684.5(ATP2B4):c.1871G>A (p.Arg624His)	ATP2B4 (R624H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547229	NM_001684.5(ATP2B4):c.865G>C (p.Val289Leu)	ATP2B4 (V289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494372	NM_001684.5(ATP2B4):c.331A>T (p.Ile111Phe)	ATP2B4 (I111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482327	NM_001684.5(ATP2B4):c.2329C>T (p.Arg777Trp)	ATP2B4 (R777W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480354	NM_001684.5(ATP2B4):c.1882G>A (p.Glu628Lys)	ATP2B4 (E628K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468983	NM_001684.5(ATP2B4):c.2848G>T (p.Ala950Ser)	ATP2B4 (A950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468758	NM_001684.5(ATP2B4):c.3548C>T (p.Ala1183Val)	ATP2B4 (A1183V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459913	NM_001684.5(ATP2B4):c.1820G>A (p.Arg607Gln)	ATP2B4 (R607Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2457535	NM_001684.5(ATP2B4):c.2977C>G (p.Arg993Gly)	ATP2B4 (R993G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454544	NM_001684.5(ATP2B4):c.2048C>G (p.Ala683Gly)	ATP2B4 (A683G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2421478	NM_001684.5(ATP2B4):c.2712C>T (p.Pro904=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2421365	NM_001684.5(ATP2B4):c.2707C>T (p.Arg903Cys)	ATP2B4 (R903C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2420810	NM_001684.5(ATP2B4):c.585C>T (p.Asn195=)	ATP2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408401	NM_001684.5(ATP2B4):c.1228T>G (p.Phe410Val)	ATP2B4 (F410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406792	NM_001684.5(ATP2B4):c.1504G>A (p.Asp502Asn)	ATP2B4 (D502N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2402533	NM_001684.5(ATP2B4):c.2567T>C (p.Ile856Thr)	ATP2B4 (I856T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399745	NM_001684.5(ATP2B4):c.2977C>T (p.Arg993Cys)	ATP2B4 (R993C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2396216	NM_001684.5(ATP2B4):c.220G>A (p.Glu74Lys)	ATP2B4 (E74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393175	NM_001684.5(ATP2B4):c.3431G>C (p.Arg1144Pro)	ATP2B4 (R1144P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2344733	NM_001684.5(ATP2B4):c.3565G>C (p.Val1189Leu)	ATP2B4 (V1189L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335671	NM_001684.5(ATP2B4):c.3145A>G (p.Ile1049Val)	ATP2B4 (I1049V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333328	NM_001684.5(ATP2B4):c.61G>A (p.Asp21Asn)	ATP2B4 (D21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327763	NM_001684.5(ATP2B4):c.1450G>T (p.Gly484Cys)	ATP2B4 (G484C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324066	NM_001684.5(ATP2B4):c.1660C>T (p.Arg554Cys)	ATP2B4 (R554C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2322126	NM_001684.5(ATP2B4):c.3068G>T (p.Ser1023Ile)	ATP2B4 (S1023I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319945	NM_001684.5(ATP2B4):c.2552A>G (p.Asn851Ser)	ATP2B4 (N851S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315913	NM_001684.5(ATP2B4):c.2293G>A (p.Val765Met)	ATP2B4 (V765M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312588	NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys)	ATP2B4 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279332	NM_001684.5(ATP2B4):c.52C>A (p.Arg18Ser)	ATP2B4 (R18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264587	NM_001684.5(ATP2B4):c.234G>C (p.Gln78His)	ATP2B4 (Q78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239057	NM_001684.5(ATP2B4):c.151G>A (p.Val51Ile)	ATP2B4 (V51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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