ClinVar for Gene (Select 488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370805	NM_170665.4(ATP2A2):c.1384C>T (p.Leu462Phe)	ATP2A2 (L337F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369246	NM_170665.4(ATP2A2):c.323A>C (p.Gln108Pro)	ATP2A2 (Q108P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360960	NM_170665.4(ATP2A2):c.2926G>A (p.Val976Met)	ATP2A2 (V851M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353752	NM_170665.4(ATP2A2):c.2177C>T (p.Ala726Val)	ATP2A2 (A601V +2 more)	Single nucleotide variant (missense variant)	ATP2A2-related disorder	GUncertain significance
Select item 3342881	NM_170665.4(ATP2A2):c.2698C>T (p.Leu900Phe)	ATP2A2, LOC126861638 (L775F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342443	NM_170665.4(ATP2A2):c.1043T>C (p.Ile348Thr)	ATP2A2 (I223T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340244	NM_170665.4(ATP2A2):c.2249G>A (p.Arg750Gln)	ATP2A2 (R625Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340243	NM_170665.4(ATP2A2):c.2245G>A (p.Gly749Arg)	ATP2A2 (G624R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338254	NM_170665.4(ATP2A2):c.1997G>A (p.Arg666Gln)	ATP2A2, LOC126861637 (R541Q +2 more)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf	GBenign
Select item 3328586	NM_170665.4(ATP2A2):c.701A>G (p.Lys234Arg)	ATP2A2 (K199R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328569	NM_170665.4(ATP2A2):c.2932C>G (p.Leu978Val)	ATP2A2 (L978V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328563	NM_170665.4(ATP2A2):c.839A>G (p.Asn280Ser)	ATP2A2 (N280S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255563	NM_170665.4(ATP2A2):c.1006_1010delinsTTCCAAGG (p.Leu336_Pro337delinsPheGlnGly)	ATP2A2	Indel (inframe_indel)	Keratosis follicularis	GPathogenic
Select item 3252476	NM_170665.4(ATP2A2):c.1312G>A (p.Gly438Arg)	ATP2A2 (G313R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239397	NM_170665.4(ATP2A2):c.1282A>C (p.Asn428His)	ATP2A2 (N303H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3131510	NM_170665.4(ATP2A2):c.1915G>A (p.Gly639Ser)	ATP2A2, LOC126861637 (G639S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131509	NM_170665.4(ATP2A2):c.1666G>A (p.Asp556Asn)	ATP2A2 (D431N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131508	NM_170665.4(ATP2A2):c.115A>T (p.Asn39Tyr)	ATP2A2 (N39Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3066277	NM_170665.4(ATP2A2):c.2607+3A>T	ATP2A2, LOC126861638	Single nucleotide variant (intron variant)	Keratosis follicularis	GUncertain significance
Select item 3061851	NM_170665.4(ATP2A2):c.220-1G>A	ATP2A2	Single nucleotide variant (splice acceptor variant +1 more)	Keratosis follicularis	GLikely pathogenic
Select item 3047553	NM_170665.4(ATP2A2):c.2119G>C (p.Ala707Pro)	ATP2A2 (A582P +2 more)	Single nucleotide variant (missense variant)	ATP2A2-related disorder	GLikely pathogenic
Select item 3046189	NM_170665.4(ATP2A2):c.867C>T (p.Ile289=)	ATP2A2	Single nucleotide variant (synonymous variant)	ATP2A2-related disorder	GLikely benign
Select item 3039727	NM_170665.4(ATP2A2):c.1494T>C (p.Cys498=)	ATP2A2	Single nucleotide variant (synonymous variant)	ATP2A2-related disorder	GLikely benign
Select item 3037988	NM_170665.4(ATP2A2):c.2521+10A>G	ATP2A2	Single nucleotide variant (intron variant)	ATP2A2-related disorder	GLikely benign
Select item 2990270	NM_170665.4(ATP2A2):c.531G>A (p.Gln177=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985319	NM_170665.4(ATP2A2):c.1827C>T (p.Ser609=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973565	NM_170665.4(ATP2A2):c.2139C>T (p.Ala713=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2966267	NM_170665.4(ATP2A2):c.2098-20A>G	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963803	NM_170665.4(ATP2A2):c.1953T>C (p.Ala651=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959923	NM_170665.4(ATP2A2):c.219+16T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914748	NM_170665.4(ATP2A2):c.2310A>G (p.Glu770=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890064	NM_170665.4(ATP2A2):c.1008C>G (p.Leu336=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861821	NM_170665.4(ATP2A2):c.1761G>A (p.Glu587=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2859247	NM_170665.4(ATP2A2):c.2321T>A (p.Ile774Asn)	ATP2A2 (I739N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838253	NM_170665.4(ATP2A2):c.1061G>A (p.Gly354Asp)	ATP2A2 (G319D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831942	NM_170665.4(ATP2A2):c.1348del (p.Glu450fs)	ATP2A2 (E450fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2823827	NM_170665.4(ATP2A2):c.1653G>A (p.Trp551Ter)	ATP2A2 (W516* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2813682	NM_170665.4(ATP2A2):c.1645C>T (p.Arg549Ter)	ATP2A2 (R514* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2812113	NM_170665.4(ATP2A2):c.2741+16C>T	ATP2A2, LOC126861638	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811831	NM_170665.4(ATP2A2):c.371C>T (p.Pro124Leu)	ATP2A2 (P89L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2804532	NM_170665.4(ATP2A2):c.2788A>G (p.Ile930Val)	ATP2A2 (I805V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748857	NM_170665.4(ATP2A2):c.908C>T (p.Ala303Val)	ATP2A2 (A268V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735974	NM_170665.4(ATP2A2):c.2104G>A (p.Asp702Asn)	ATP2A2 (D702N +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735973	NM_170665.4(ATP2A2):c.667G>A (p.Val223Met)	ATP2A2 (V223M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2735971	NM_170665.4(ATP2A2):c.547G>A (p.Glu183Lys)	ATP2A2 (E58K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735967	NM_170665.4(ATP2A2):c.479C>T (p.Pro160Leu)	ATP2A2 (P125L +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735966	NC_000012.12:g.110282602AG[1]	ATP2A2	Microsatellite	not provided	GPathogenic
Select item 2705845	NM_170665.4(ATP2A2):c.428_429del (p.Lys143fs)	ATP2A2 (K108fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2691458	NM_170665.4(ATP2A2):c.1910G>A (p.Arg637His)	ATP2A2, LOC126861637 (R512H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2690548	NM_170665.4(ATP2A2):c.434_435del (p.Ile145fs)	ATP2A2 (I110fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2663159	NM_170665.4(ATP2A2):c.392G>T (p.Arg131Leu)	ATP2A2 (R131L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643287	NM_170665.4(ATP2A2):c.1665C>T (p.Ser555=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630147	NM_170665.4(ATP2A2):c.1484C>T (p.Ser495Leu)	ATP2A2 (S370L +2 more)	Single nucleotide variant (missense variant)	ATP2A2-related disorder	GLikely pathogenic
Select item 2627605	NM_170665.4(ATP2A2):c.1010del (p.Pro337fs)	ATP2A2 (P212fs +2 more)	Deletion (frameshift variant)	Keratosis follicularis	GLikely pathogenic
Select item 2582907	NM_170665.4(ATP2A2):c.632G>A (p.Gly211Asp)	ATP2A2 (G176D +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2507396	NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)	ATP2A2 (S213F +2 more)	Single nucleotide variant (missense variant)	Keratosis follicularis	GPathogenic
Select item 2505933	NM_170665.4(ATP2A2):c.704T>A (p.Ile235Asn)	ATP2A2 (I110N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504531	NM_170665.4(ATP2A2):c.710A>G (p.Asp237Gly)	ATP2A2 (D112G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501852	NM_170665.4(ATP2A2):c.484G>A (p.Asp162Asn)	ATP2A2 (D127N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500666	NM_170665.4(ATP2A2):c.1058C>G (p.Thr353Ser)	ATP2A2 (T228S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495311	NM_170665.4(ATP2A2):c.2631G>T (p.Glu877Asp)	ATP2A2, LOC126861638 (E877D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435872	NM_170665.4(ATP2A2):c.119-8_119-2del	ATP2A2	Microsatellite (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2429631	NM_170665.4(ATP2A2):c.2116G>A (p.Asp706Asn)	ATP2A2 (D581N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2424213	NC_000012.11:g.(?_110646956)_(110765842_?)del	ATP2A2, IFT81	Deletion	not provided	GPathogenic
Select item 2424212	NC_000012.11:g.(?_110729805)_(110729949_?)del	ATP2A2	Deletion	not provided	GPathogenic
Select item 2333907	NM_170665.4(ATP2A2):c.2017C>T (p.Arg673Cys)	ATP2A2, LOC126861637 (R548C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324366	NM_170665.4(ATP2A2):c.1955T>A (p.Phe652Tyr)	ATP2A2, LOC126861637 (F617Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318925	NM_170665.4(ATP2A2):c.580G>A (p.Val194Ile)	ATP2A2 (V159I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316941	NM_170665.4(ATP2A2):c.1120G>C (p.Gly374Arg)	ATP2A2 (G374R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295150	NM_170665.4(ATP2A2):c.1856G>A (p.Arg619Gln)	ATP2A2, LOC126861637 (R494Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295036	NM_170665.4(ATP2A2):c.1964G>A (p.Arg655Gln)	ATP2A2, LOC126861637 (R655Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285639	NM_170665.4(ATP2A2):c.1978C>T (p.Leu660Phe)	ATP2A2, LOC126861637 (L625F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277897	NM_170665.4(ATP2A2):c.1150A>G (p.Ile384Val)	ATP2A2 (I349V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234720	NM_170665.4(ATP2A2):c.2827C>T (p.His943Tyr)	ATP2A2 (H818Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228232	NM_170665.4(ATP2A2):c.378G>C (p.Met126Ile)	ATP2A2 (M91I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183525	NM_170665.4(ATP2A2):c.2860-9G>A	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167432	NM_170665.4(ATP2A2):c.579C>T (p.Pro193=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159516	NM_170665.4(ATP2A2):c.533C>T (p.Ser178Leu)	ATP2A2 (S178L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137438	NM_170665.4(ATP2A2):c.2426A>T (p.Asn809Ile)	ATP2A2 (N684I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137436	NM_170665.4(ATP2A2):c.2407G>A (p.Ala803Thr)	ATP2A2 (A678T +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2130898	NM_170665.4(ATP2A2):c.2939A>T (p.Asp980Val)	ATP2A2 (D855V +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2104852	NM_170665.4(ATP2A2):c.2063A>G (p.Glu688Gly)	ATP2A2, LOC126861637 (E563G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072904	NM_170665.4(ATP2A2):c.463+9_463+10del	ATP2A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2046508	NM_170665.4(ATP2A2):c.2697G>T (p.Ala899=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1969376	NM_170665.4(ATP2A2):c.1543-17A>G	ATP2A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1965389	NM_170665.4(ATP2A2):c.2597_2599del (p.Phe866del)	ATP2A2, LOC126861638 (F741del +2 more)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1952056	NM_170665.4(ATP2A2):c.2522-1G>C	ATP2A2, LOC126861638	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1950461	NM_170665.4(ATP2A2):c.12G>T (p.Ala4=)	ATP2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1948708	NM_170665.4(ATP2A2):c.1184+11del	ATP2A2	Deletion (intron variant)	not provided	GLikely benign
Select item 1918922	NM_170665.4(ATP2A2):c.1096-10C>T	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910707	NM_170665.4(ATP2A2):c.137-6T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909756	NM_170665.4(ATP2A2):c.544+13T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907988	NM_170665.4(ATP2A2):c.2787C>T (p.Asn929=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1897365	NM_170665.4(ATP2A2):c.1822T>G (p.Ser608Ala)	ATP2A2, LOC126861637 (S573A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1879243	NM_170665.4(ATP2A2):c.464-12T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1720887	NM_170665.4(ATP2A2):c.2071C>A (p.Gln691Lys)	ATP2A2, LOC126861637 (Q566K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693414	NM_170665.4(ATP2A2):c.1A>G (p.Met1Val)	ATP2A2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1662600	NM_170665.4(ATP2A2):c.2847C>T (p.Val949=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656483	NM_170665.4(ATP2A2):c.2741+10C>T	ATP2A2, LOC126861638	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644841	NM_170665.4(ATP2A2):c.2860-19C>T	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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