ATP2A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 881448	NM_170665.4(ATP2A2):c.-543A>G	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 881449	NM_170665.4(ATP2A2):c.-512C>G	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307146	NM_170665.4(ATP2A2):c.-500T>C	LOC130008738, ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GBenign
Select item 307147	NM_170665.4(ATP2A2):c.-482C>T	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307148	NM_170665.4(ATP2A2):c.-476C>T	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 881878	NM_170665.4(ATP2A2):c.-469G>C	LOC130008738, ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 881879	NM_170665.4(ATP2A2):c.-458G>A	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307149	NM_170665.4(ATP2A2):c.-403C>G	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis +1 more	GBenign
Select item 881880	NM_170665.4(ATP2A2):c.-391C>T	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307150	NM_170665.4(ATP2A2):c.-335C>A	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307151	NM_170665.4(ATP2A2):c.-324G>A	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307152	NM_170665.4(ATP2A2):c.-311G>T	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307153	NM_170665.4(ATP2A2):c.-274G>C	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GBenign
Select item 307154	NM_170665.4(ATP2A2):c.-240G>A	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis +1 more	GBenign
Select item 883057	NM_170665.4(ATP2A2):c.-206C>T	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307155	NM_170665.4(ATP2A2):c.-167C>T	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 883058	NM_170665.4(ATP2A2):c.-165C>G	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307156	NM_170665.4(ATP2A2):c.-75C>T	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 883059	NM_170665.4(ATP2A2):c.-37G>C	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 883060	NM_170665.4(ATP2A2):c.-34G>A	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
Select item 307157	NM_170665.4(ATP2A2):c.-15C>T	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GBenign
Select item 307158	NM_170665.4(ATP2A2):c.-10C>G	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Acrokeratosis verruciformis of Hopf +3 more	GBenign/Likely benign
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 280505	NM_170665.4(ATP2A2):c.1A>T (p.Met1Leu)	ATP2A2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 17789	NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu)	ATP2A2 (G23E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 307159	NM_170665.4(ATP2A2):c.81A>G (p.Glu27=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 307160	NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe)	ATP2A2 (L32F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806939	NM_170665.4(ATP2A2):c.105A>T (p.Arg35Ser)	ATP2A2 (R35S)	Single nucleotide variant (missense variant)	not provided	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 2435872	NM_170665.4(ATP2A2):c.119-8_119-2del	ATP2A2	Microsatellite (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2735966	NC_000012.12:g.110282602AG[1]	ATP2A2	Microsatellite	not provided	GPathogenic
Select item 785426	NM_170665.4(ATP2A2):c.129T>A (p.Ala43=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 92033	NM_170665.4(ATP2A2):c.131A>G (p.Glu44Gly)	ATP2A2 (E44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307161	NM_170665.4(ATP2A2):c.136+11C>T	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis	GLikely benign
Select item 931158	NM_170665.4(ATP2A2):c.136+21_136+22del	ATP2A2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17795	NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN	ATP2A2	Insertion (intron variant)	Keratosis follicularis	GPathogenic
Select item 307162	NM_170665.4(ATP2A2):c.137-12T>C	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis +1 more	GBenign
Select item 1910707	NM_170665.4(ATP2A2):c.137-6T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 427028	NM_170665.4(ATP2A2):c.218T>C (p.Phe73Ser)	ATP2A2 (F73S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 307163	NM_170665.4(ATP2A2):c.219+15del	ATP2A2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2959923	NM_170665.4(ATP2A2):c.219+16T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377532	NM_170665.4(ATP2A2):c.220-18G>A	ATP2A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 730135	NM_170665.4(ATP2A2):c.261C>A (p.Ala87=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280566	NM_170665.4(ATP2A2):c.291_292del (p.Leu98fs)	ATP2A2 (L98fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 307164	NM_170665.4(ATP2A2):c.303T>C (p.Asn101=)	ATP2A2	Single nucleotide variant (synonymous variant)	Keratosis follicularis	GUncertain significance
Select item 1125576	NM_170665.4(ATP2A2):c.307A>G (p.Ile103Val)	ATP2A2 (I103V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 17790	NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter)	ATP2A2 (Q108*)	Single nucleotide variant (nonsense)	Keratosis follicularis	GPathogenic
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 307165	NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)	ATP2A2	Single nucleotide variant (synonymous variant)	Acrokeratosis verruciformis of Hopf +3 more	GBenign/Likely benign
Select item 1071045	NM_170665.4(ATP2A2):c.348del (p.Ile116fs)	ATP2A2 (I116fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 430316	NM_170665.4(ATP2A2):c.363A>T (p.Glu121Asp)	ATP2A2 (E121D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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 17800	NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln)	ATP2A2 (R131Q)	Single nucleotide variant (missense variant)	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 2690548	NM_170665.4(ATP2A2):c.434_435del (p.Ile145fs)	ATP2A2 (I110fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2072904	NM_170665.4(ATP2A2):c.463+9_463+10del	ATP2A2	Deletion (intron variant)	not provided	GLikely benign
Select item 802891	NM_170665.4(ATP2A2):c.464-70C>A	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis +1 more	GBenign
Select item 1879243	NM_170665.4(ATP2A2):c.464-12T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373006	NM_170665.4(ATP2A2):c.467G>T (p.Gly156Val)	ATP2A2 (G156V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 883834	NM_170665.4(ATP2A2):c.506A>G (p.Lys169Arg)	ATP2A2 (K169R)	Single nucleotide variant (missense variant)	Keratosis follicularis	GUncertain significance
Select item 2990270	NM_170665.4(ATP2A2):c.531G>A (p.Gln177=)	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 988560	NM_170665.4(ATP2A2):c.544_545insAACCCGCTTAG (p.Gly182delinsGluProAlaTer)	ATP2A2	Insertion (nonsense)	not provided	GLikely pathogenic
Select item 17791	NM_170665.4(ATP2A2):c.544+1G>A	ATP2A2	Single nucleotide variant (splice donor variant)	Keratosis follicularis	GPathogenic
Select item 307166	NM_170665.4(ATP2A2):c.544+10A>G	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis	GUncertain significance
Select item 1909756	NM_170665.4(ATP2A2):c.544+13T>C	ATP2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 880538	NM_170665.4(ATP2A2):c.545-14C>T	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis	GUncertain significance
Select item 424110	NM_170665.4(ATP2A2):c.545-12C>G	ATP2A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 585465	NM_170665.4(ATP2A2):c.545-7C>T	ATP2A2	Single nucleotide variant (intron variant)	Acrokeratosis verruciformis of Hopf +2 more	GBenign
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 307167	NM_170665.4(ATP2A2):c.555C>G (p.Val185=)	ATP2A2	Single nucleotide variant (synonymous variant)	Keratosis follicularis	GUncertain significance
Select item 2167432	NM_170665.4(ATP2A2):c.579C>T (p.Pro193=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 880539	NM_170665.4(ATP2A2):c.583C>G (p.Pro195Ala)	ATP2A2 (P195A)	Single nucleotide variant (missense variant)	Keratosis follicularis	GUncertain significance
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 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 451797	NM_170665.4(ATP2A2):c.667G>C (p.Val223Leu)	ATP2A2 (V223L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 930659	NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala)	ATP2A2 (T230A)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf	GUncertain significance
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 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 742528	NM_170665.4(ATP2A2):c.783C>T (p.Ser261=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17793	NM_170665.4(ATP2A2):c.803G>T (p.Cys268Phe)	ATP2A2 (C268F)	Single nucleotide variant (missense variant)	Darier disease, acral hemorrhagic type	GPathogenic
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 3046189	NM_170665.4(ATP2A2):c.867C>T (p.Ile289=)	ATP2A2	Single nucleotide variant (synonymous variant)	ATP2A2-related disorder	GLikely benign
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 747638	NM_170665.4(ATP2A2):c.931C>T (p.Leu311=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255563	NM_170665.4(ATP2A2):c.1006_1010delinsTTCCAAGG (p.Leu336_Pro337delinsPheGlnGly)	ATP2A2	Indel (inframe_indel)	Keratosis follicularis	GPathogenic
Select item 2890064	NM_170665.4(ATP2A2):c.1008C>G (p.Leu336=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627605	NM_170665.4(ATP2A2):c.1010del (p.Pro337fs)	ATP2A2 (P212fs +2 more)	Deletion (frameshift variant)	Keratosis follicularis	GLikely pathogenic
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 3342443	NM_170665.4(ATP2A2):c.1043T>C (p.Ile348Thr)	ATP2A2 (I223T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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