"Revvity Omics, Revvity"[submitter] AND "ATP2A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1933810	NM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys)	ATP2A1 (E20K)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1432748	NM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln)	ATP2A1 (L33Q)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 464069	NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser)	ATP2A1 (G37S)	Single nucleotide variant (missense variant)	Brody myopathy +2 more	GUncertain significance
Select item 1323806	NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter)	ATP2A1, ATP2A1-AS1 (W50*)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 2688641	NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)	ATP2A1, ATP2A1-AS1 (V62G)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 318766	NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln)	ATP2A1, ATP2A1-AS1 (R63Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 385996	NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)	ATP2A1 (E82G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1323958	NM_004320.6(ATP2A1):c.324+1G>A	ATP2A1	Single nucleotide variant (splice donor variant)	Brody myopathy	GLikely pathogenic
Select item 639338	NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp)	ATP2A1 (R110W)	Single nucleotide variant (5 prime UTR variant +1 more)	Brody myopathy +1 more	GUncertain significance
Select item 2439347	NM_004320.6(ATP2A1):c.401G>A (p.Arg134His)	ATP2A1 (R134H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 464089	NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln)	ATP2A1 (R143Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 2439360	NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)	ATP2A1 (V146I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2688642	NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)	ATP2A1 (R174W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1449767	NM_004320.6(ATP2A1):c.527A>T (p.Asp176Val)	ATP2A1 (D176V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439354	NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)	ATP2A1 (V185A +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2213510	NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val)	ATP2A1 (I188V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 957188	NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe)	ATP2A1 (V69F +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1323768	NM_004320.6(ATP2A1):c.592del (p.Arg198fs)	ATP2A1 (R198fs +1 more)	Deletion (frameshift variant)	Brody myopathy	GPathogenic
Select item 2439348	NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)	ATP2A1 (G211V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439359	NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser)	ATP2A1 (G217S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439367	NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)	ATP2A1 (A224G +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1363138	NM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser)	ATP2A1 (G102S +1 more)	Inversion (missense variant)	Brody myopathy	GUncertain significance
Select item 430333	NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys)	ATP2A1 (E231K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323776	NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter)	ATP2A1 (R111* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 2439358	NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)	ATP2A1 (Q119K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 532728	NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)	ATP2A1 (D245N +1 more)	Single nucleotide variant (missense variant)	ATP2A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1306780	NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val)	ATP2A1 (F131V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439361	NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)	ATP2A1 (I139V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439353	NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)	ATP2A1 (G161S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1378110	NM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp)	ATP2A1 (G161D +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 429328	NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg)	ATP2A1 (G291R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1026204	NM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser)	ATP2A1 (A195S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 653110	NM_004320.6(ATP2A1):c.971G>A (p.Arg324His)	ATP2A1 (R199H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +2 more	GUncertain significance
Select item 2439363	NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)	ATP2A1 (R200W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 578686	NM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile)	ATP2A1 (V339I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439365	NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)	ATP2A1 (D226N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2195261	NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr)	ATP2A1 (I244T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2081456	NM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr)	ATP2A1 (A390T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 392313	NM_004320.6(ATP2A1):c.1184+1G>A	ATP2A1	Single nucleotide variant (splice donor variant)	Brody myopathy +1 more	GPathogenic/Likely pathogenic
Select item 432237	NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)	ATP2A1 (R403W +1 more)	Single nucleotide variant (missense variant)	ATP2A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 318774	NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln)	ATP2A1 (R403Q +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 1323761	NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter)	ATP2A1 (Q281* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GLikely pathogenic
Select item 1434504	NM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val)	ATP2A1 (A293V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 970537	NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys)	ATP2A1 (E304K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1439254	NM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile)	ATP2A1 (L320I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 860782	NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala)	ATP2A1 (T332A +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 392455	NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met)	ATP2A1 (T457M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 426432	NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu)	ATP2A1 (S473L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 464076	NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)	ATP2A1 (R476H +1 more)	Single nucleotide variant (missense variant)	ATP2A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2439369	NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)	ATP2A1 (Q352R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 446877	NM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln)	ATP2A1 (R489Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2439355	NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)	ATP2A1 (G384D +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 938597	NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser)	ATP2A1 (P393S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 423726	NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile)	ATP2A1 (V521I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1436855	NM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp)	ATP2A1 (R409W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 959983	NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln)	ATP2A1 (R534Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1016701	NM_004320.6(ATP2A1):c.1603G>A (p.Val535Met)	ATP2A1 (V410M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1052450	NM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser)	ATP2A1 (P411S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439372	NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)	ATP2A1 (M421V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2047372	NM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr)	ATP2A1 (M546T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439366	NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)	ATP2A1 (R431Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1031711	NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs)	ATP2A1 (L559fs +1 more)	Microsatellite (frameshift variant)	Brody myopathy	GPathogenic
Select item 2439356	NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)	ATP2A1 (L434P +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439371	NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 646834	NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG	ATP2A1	Indel (splice donor variant)	Brody myopathy	GLikely pathogenic
Select item 704833	NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met)	ATP2A1 (T464M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 2439362	NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)	ATP2A1 (F468Y +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 949911	NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu)	ATP2A1 (V469L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 652409	NM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys)	ATP2A1 (R479C +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439374	NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)	ATP2A1 (K480E +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 647262	NM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln)	ATP2A1 (R512Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1191997	NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln)	ATP2A1 (R513Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2439375	NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)	ATP2A1 (E521Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439364	NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)	ATP2A1 (Y528H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 836273	NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys)	ATP2A1 (T654K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 532729	NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln)	ATP2A1 (R667Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439351	NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)	ATP2A1 (R546Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 17803	NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)	ATP2A1 (C675* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 2101922	NM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val)	ATP2A1 (I572V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2161583	NM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile)	ATP2A1 (V580I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439373	NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)	ATP2A1 (A583T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 864344	NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn)	ATP2A1 (D738N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1302442	NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile)	ATP2A1 (V619I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 2688643	NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)	ATP2A1 (G625S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439349	NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)	ATP2A1 (I650L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439368	NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr)	ATP2A1 (P686T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 860003	NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro)	ATP2A1 (L814P +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 585455	NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys)	ATP2A1 (R819C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464085	NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)	ATP2A1 (R697fs +1 more)	Duplication (frameshift variant)	Brody myopathy +2 more	GPathogenic/Likely pathogenic
Select item 464084	NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)	ATP2A1 (R697fs +1 more)	Deletion (frameshift variant)	Brody myopathy +1 more	GPathogenic/Likely pathogenic
Select item 390036	NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr)	ATP2A1 (P820T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2439352	NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)	ATP2A1 (P702L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2136804	NM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys)	ATP2A1 (R836C +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 1378017	NM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser)	ATP2A1 (G842S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 663465	NM_004320.6(ATP2A1):c.2545G>A (p.Val849Met)	ATP2A1 (V724M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 318788	NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg)	ATP2A1 (W854R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323957	NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)	ATP2A1 (Y733* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GLikely pathogenic
Select item 1323799	NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter)	ATP2A1 (Y733* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 888235	NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile)	ATP2A1 (T877I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 863736	NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser)	ATP2A1 (G760S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance

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