"Illumina Laboratory Services, Illumina"[submitter] AND "ATP2A1"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318764	NM_004320.6(ATP2A1):c.-22C>T	ATP2A1	Single nucleotide variant (5 prime UTR variant)	Brody myopathy +1 more	GBenign
Select item 885898	NM_004320.6(ATP2A1):c.-15C>T	ATP2A1	Single nucleotide variant (5 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 384851	NM_004320.6(ATP2A1):c.-12G>A	ATP2A1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 885899	NM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp)	ATP2A1 (A14D)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 318765	NM_004320.6(ATP2A1):c.78G>A (p.Pro26=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 446876	NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)	ATP2A1 (E34*)	Single nucleotide variant (nonsense)	ATP2A1-related condition +2 more	GConflicting classifications of pathogenicity
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 318767	NM_004320.6(ATP2A1):c.220-11C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 387884	NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu)	ATP2A1 (P91L)	Single nucleotide variant (5 prime UTR variant +1 more)	Brody myopathy +1 more	GUncertain significance
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 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 318768	NM_004320.6(ATP2A1):c.450C>T (p.Ile150=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 886894	NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu)	ATP2A1 (K33E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 886895	NM_004320.6(ATP2A1):c.515C>T (p.Thr172Met)	ATP2A1 (T172M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 96544	NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)	ATP2A1	Single nucleotide variant (synonymous variant)	ATP2A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 318769	NM_004320.6(ATP2A1):c.675C>T (p.Thr225=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 96545	NM_004320.6(ATP2A1):c.678T>C (p.Thr226=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 779759	NM_004320.6(ATP2A1):c.765G>A (p.Glu255=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 387826	NM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser)	ATP2A1 (N280S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 387418	NM_004320.6(ATP2A1):c.870C>T (p.Arg290=)	ATP2A1	Single nucleotide variant (synonymous variant)	ATP2A1-related condition +3 more	GBenign/Likely benign
Select item 318770	NM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr)	ATP2A1 (A313T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 888170	NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 384410	NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 318771	NM_004320.6(ATP2A1):c.1176G>A (p.Glu392=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 318772	NM_004320.6(ATP2A1):c.1184+12A>G	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GUncertain significance
Select item 318773	NM_004320.6(ATP2A1):c.1185-11C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	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)	not specified +3 more	GUncertain significance
Select item 585453	NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser)	ATP2A1 (N428S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885048	NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 318775	NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 464073	NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser)	ATP2A1 (N456S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 318776	NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)	ATP2A1	Single nucleotide variant (synonymous variant)	ATP2A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 96540	NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 464077	NM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu)	ATP2A1 (P540L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 318777	NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96541	NM_004320.6(ATP2A1):c.1764+6del	ATP2A1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 318778	NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met)	ATP2A1 (V594M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 318779	NM_004320.6(ATP2A1):c.1809G>A (p.Pro603=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 318780	NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 885966	NM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys)	ATP2A1 (E521K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 318781	NM_004320.6(ATP2A1):c.1941G>A (p.Glu647=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 387411	NM_004320.6(ATP2A1):c.1948G>A (p.Asp650Asn)	ATP2A1 (D650N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GBenign
Select item 836273	NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys)	ATP2A1 (T654K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 646231	NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 318782	NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 318783	NM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met)	ATP2A1 (I697M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 886969	NM_004320.6(ATP2A1):c.2101-15C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GUncertain significance
Select item 318784	NM_004320.6(ATP2A1):c.2285G>A (p.Arg762His)	ATP2A1 (R762H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 318785	NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GConflicting classifications of pathogenicity
Select item 318786	NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 886970	NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His)	ATP2A1 (R694H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 318787	NM_004320.6(ATP2A1):c.2524+3G>T	ATP2A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 431853	NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr)	ATP2A1 (A846T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 96542	NM_004320.6(ATP2A1):c.2595del (p.Asn866fs)	ATP2A1 (N741fs +1 more)	Deletion (frameshift variant)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
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 96543	NM_004320.6(ATP2A1):c.2774dup (p.Met925fs)	ATP2A1 (M800fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888236	NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu)	ATP2A1 (V862L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 646003	NM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile)	ATP2A1 (V862I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 96539	NM_004320.6(ATP2A1):c.*64G>A	ATP2A1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318789	NM_004320.6(ATP2A1):c.*103C>T	ATP2A1	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 888237	NM_004320.6(ATP2A1):c.*158A>T	ATP2A1	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 318790	NM_004320.6(ATP2A1):c.158_159del	ATP2A1	Deletion (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 318791	NM_004320.6(ATP2A1):c.*174A>G	ATP2A1	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 318792	NM_004320.6(ATP2A1):c.*203G>C	ATP2A1	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 885124	NM_004320.6(ATP2A1):c.*234T>G	ATP2A1	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 318793	NM_024816.3(RABEP2):c.*451C>T	ATP2A1, RABEP2	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 318794	NM_024816.3(RABEP2):c.*440G>A	ATP2A1, RABEP2	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GBenign
Select item 1710520	GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1	CLN3, EIF3C +15 more	Copy number loss	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 988931	GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3	NUPR1, RABEP2 +15 more	Copy number gain	not provided	GUncertain significance

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Items: 71