Related gene-specific medical variations for Gene (Select 488) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3066277	NM_170665.4(ATP2A2):c.2607+3A>T	ATP2A2, LOC126861638	Single nucleotide variant (intron variant)	Keratosis follicularis	GUncertain significance
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 2963803	NM_170665.4(ATP2A2):c.1953T>C (p.Ala651=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812113	NM_170665.4(ATP2A2):c.2741+16C>T	ATP2A2, LOC126861638	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2507396	NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)	ATP2A2 (S213F +2 more)	Single nucleotide variant (missense variant)	Keratosis follicularis	GPathogenic
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 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 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 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 2046508	NM_170665.4(ATP2A2):c.2697G>T (p.Ala899=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 1656483	NM_170665.4(ATP2A2):c.2741+10C>T	ATP2A2, LOC126861638	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342440	NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro)	ATP2A2, LOC126861637 (R677P)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf +1 more	GUncertain significance
Select item 1323820	NM_170665.4(ATP2A2):c.2560del (p.Trp854fs)	ATP2A2, LOC126861638 (W854fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1217488	NM_170665.4(ATP2A2):c.2530G>A (p.Gly844Ser)	ATP2A2, LOC126861638 (G844S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190253	NM_170665.4(ATP2A2):c.2039C>T (p.Pro680Leu)	ATP2A2, LOC126861637 (P680L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1098615	NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val)	ATP2A2, LOC126861637 (I686V)	Single nucleotide variant (missense variant)	Keratosis follicularis	GUncertain significance
Select item 996841	NM_170665.4(ATP2A2):c.1924G>A (p.Gly642Arg)	ATP2A2, LOC126861637 (G642R)	Single nucleotide variant (missense variant)	Keratosis follicularis +1 more	GUncertain significance
Select item 987228	NM_170665.4(ATP2A2):c.2165dup (p.Thr723fs)	ATP2A2 (T723fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 986891	NM_170665.4(ATP2A2):c.2461del (p.Arg821fs)	ATP2A2 (R821fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 883129	NM_170665.4(ATP2A2):c.2059G>A (p.Val687Ile)	ATP2A2, LOC126861637 (V687I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 881955	NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala)	ATP2A2, LOC126861637 (P602A)	Single nucleotide variant (missense variant)	Keratosis follicularis	GUncertain significance
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 881879	NM_170665.4(ATP2A2):c.-458G>A	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 881449	NM_170665.4(ATP2A2):c.-512C>G	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis	GUncertain significance
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 806941	NM_170665.4(ATP2A2):c.2387T>C (p.Leu796Pro)	ATP2A2 (L796P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806940	NM_170665.4(ATP2A2):c.1783T>C (p.Cys595Arg)	ATP2A2, LOC126861637 (C595R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740051	NM_170665.4(ATP2A2):c.2697G>A (p.Ala899=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446882	NM_170665.4(ATP2A2):c.2577C>T (p.Asp859=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 427105	NM_170665.4(ATP2A2):c.2735T>C (p.Leu912Pro)	ATP2A2, LOC126861638 (L912P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 385758	NM_170665.4(ATP2A2):c.1847C>T (p.Ala616Val)	ATP2A2, LOC126861637 (A616V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307183	NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 307182	NM_170665.4(ATP2A2):c.2556A>C (p.Ala852=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	Keratosis follicularis +1 more	GLikely benign
Select item 307177	NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous variant)	Acrokeratosis verruciformis of Hopf +2 more	GBenign
Select item 307176	NM_170665.4(ATP2A2):c.1983C>T (p.Asn661=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 307175	NM_170665.4(ATP2A2):c.1912A>G (p.Ile638Val)	ATP2A2, LOC126861637 (I638V)	Single nucleotide variant (missense variant)	Keratosis follicularis	GBenign
Select item 307174	NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous 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 307151	NM_170665.4(ATP2A2):c.-324G>A	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 307149	NM_170665.4(ATP2A2):c.-403C>G	ATP2A2, LOC130008738	Single nucleotide variant (5 prime UTR variant)	Keratosis follicularis +1 more	GBenign
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 307147	NM_170665.4(ATP2A2):c.-482C>T	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 280355	NM_170665.4(ATP2A2):c.2058del (p.Ile686fs)	ATP2A2, LOC126861637 (I686fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 29610	NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val)	ATP2A2, LOC126861637 (A698V)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf	GPathogenic
Select item 17799	NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu)	ATP2A2, LOC126861637 (P602L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17797	NM_170665.4(ATP2A2):c.2682C>A (p.Tyr894Ter)	ATP2A2, LOC126861638 (Y894*)	Single nucleotide variant (nonsense)	Darier disease, segmental	GPathogenic

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Items: 65