ClinVar Miner

List of variants reported as uncertain significance for Brody myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_28889809)_(28893910_?)dup
NM_004320.5(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015
NM_004320.5(ATP2A1):c.1283A>G (p.Asn428Ser) rs138267146
NM_004320.5(ATP2A1):c.136+2dup rs1415021206
NM_004320.5(ATP2A1):c.195_197CCT[1] (p.Leu67del) rs753865718
NM_004320.5(ATP2A1):c.2209_2211GAC[1] (p.Asp738del) rs1180385645
NM_004320.5(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970
NM_004320.5(ATP2A1):c.2752G>A (p.Glu918Lys) rs376101862
NM_004320.6(ATP2A1):c.1025T>C (p.Leu342Pro)
NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys)
NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val)
NM_004320.6(ATP2A1):c.1300T>C (p.Tyr434His)
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=)
NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala)
NM_004320.6(ATP2A1):c.137-5C>G
NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met)
NM_004320.6(ATP2A1):c.1457A>T (p.Glu486Val)
NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser)
NM_004320.6(ATP2A1):c.1567G>A (p.Asp523Asn)
NM_004320.6(ATP2A1):c.1570C>T (p.Arg524Cys)
NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln)
NM_004320.6(ATP2A1):c.1666C>T (p.Arg556Trp)
NM_004320.6(ATP2A1):c.1712C>A (p.Pro571Gln)
NM_004320.6(ATP2A1):c.1712C>T (p.Pro571Leu)
NM_004320.6(ATP2A1):c.1741T>C (p.Ser581Pro)
NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu)
NM_004320.6(ATP2A1):c.1843C>T (p.Arg615Cys)
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys)
NM_004320.6(ATP2A1):c.1975G>A (p.Asp659Asn)
NM_004320.6(ATP2A1):c.2015G>A (p.Arg672His)
NM_004320.6(ATP2A1):c.2183A>G (p.Lys728Arg)
NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn)
NM_004320.6(ATP2A1):c.2311G>A (p.Glu771Lys)
NM_004320.6(ATP2A1):c.2423G>A (p.Gly808Asp)
NM_004320.6(ATP2A1):c.2429A>G (p.Asn810Ser)
NM_004320.6(ATP2A1):c.2434C>T (p.Pro812Ser)
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro)
NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His)
NM_004320.6(ATP2A1):c.2540C>G (p.Ala847Gly)
NM_004320.6(ATP2A1):c.2621T>C (p.Met874Thr)
NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser)
NM_004320.6(ATP2A1):c.2695A>G (p.Met899Val)
NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val)
NM_004320.6(ATP2A1):c.2840T>C (p.Ile947Thr)
NM_004320.6(ATP2A1):c.2911C>T (p.Leu971Phe)
NM_004320.6(ATP2A1):c.2930T>C (p.Val977Ala)
NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val)
NM_004320.6(ATP2A1):c.310G>A (p.Val104Met)
NM_004320.6(ATP2A1):c.400C>T (p.Arg134Cys)
NM_004320.6(ATP2A1):c.448A>G (p.Ile150Val)
NM_004320.6(ATP2A1):c.55A>G (p.Ser19Gly)
NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe)
NM_004320.6(ATP2A1):c.719C>T (p.Ala240Val)
NM_004320.6(ATP2A1):c.938C>T (p.Ala313Val)
NM_173201.4(ATP2A1):c.1015G>A (p.Val339Ile) rs770299228
NM_173201.4(ATP2A1):c.109G>A (p.Gly37Ser) rs200428113
NM_173201.4(ATP2A1):c.1136T>C (p.Leu379Pro) rs1596677553
NM_173201.4(ATP2A1):c.1287+5C>T rs377237562
NM_173201.4(ATP2A1):c.1294G>A (p.Gly432Ser) rs752021942
NM_173201.4(ATP2A1):c.1312G>A (p.Gly438Ser) rs924674103
NM_173201.4(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245
NM_173201.4(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727
NM_173201.4(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala) rs1596678543
NM_173201.4(ATP2A1):c.1400G>A (p.Arg467Lys) rs141453876
NM_173201.4(ATP2A1):c.1418C>T (p.Ser473Leu) rs41292392
NM_173201.4(ATP2A1):c.1419G>A (p.Ser473=) rs749463179
NM_173201.4(ATP2A1):c.1427G>A (p.Arg476His) rs150068594
NM_173201.4(ATP2A1):c.1540G>C (p.Val514Leu) rs769174301
NM_173201.4(ATP2A1):c.1561G>A (p.Val521Ile) rs200092983
NM_173201.4(ATP2A1):c.1780G>A (p.Val594Met) rs142091964
NM_173201.4(ATP2A1):c.1810C>T (p.Arg604Cys) rs765984663
NM_173201.4(ATP2A1):c.1852G>A (p.Gly618Arg) rs781065366
NM_173201.4(ATP2A1):c.188G>A (p.Arg63Gln) rs774708450
NM_173201.4(ATP2A1):c.1909C>T (p.Arg637Trp) rs367563402
NM_173201.4(ATP2A1):c.1910G>A (p.Arg637Gln) rs182084601
NM_173201.4(ATP2A1):c.1962G>A (p.Thr654=) rs773807881
NM_173201.4(ATP2A1):c.1976A>G (p.Asp659Gly) rs1555516985
NM_173201.4(ATP2A1):c.1990G>A (p.Ala664Thr) rs764844913
NM_173201.4(ATP2A1):c.2000G>A (p.Arg667Gln) rs141250244
NM_173201.4(ATP2A1):c.2014C>T (p.Arg672Cys) rs201306038
NM_173201.4(ATP2A1):c.2077T>G (p.Ser693Ala) rs563510255
NM_173201.4(ATP2A1):c.208T>C (p.Cys70Arg) rs752669373
NM_173201.4(ATP2A1):c.2182A>G (p.Lys728Glu) rs1596686606
NM_173201.4(ATP2A1):c.2239G>A (p.Val747Met) rs550478826
NM_173201.4(ATP2A1):c.2366C>G (p.Pro789Arg) rs121918115
NM_173201.4(ATP2A1):c.2414C>T (p.Thr805Ile) rs778571371
NM_173201.4(ATP2A1):c.2462C>A (p.Pro821His) rs774562744
NM_173201.4(ATP2A1):c.251C>T (p.Thr84Ile) rs146091204
NM_173201.4(ATP2A1):c.2521G>A (p.Gly841Arg) rs1596687295
NM_173201.4(ATP2A1):c.2545G>A (p.Val849Met) rs748956350
NM_173201.4(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969
NM_173201.4(ATP2A1):c.2632G>A (p.Glu878Lys) rs760650232
NM_173201.4(ATP2A1):c.2678C>T (p.Ala893Val) rs1237226867
NM_173201.4(ATP2A1):c.2750C>G (p.Ser917Cys) rs1555517373
NM_173201.4(ATP2A1):c.2771G>A (p.Arg924Gln) rs781119219
NM_173201.4(ATP2A1):c.2776C>T (p.Pro926Ser) rs769822529
NM_173201.4(ATP2A1):c.2944G>A (p.Glu982Lys) rs538702357
NM_173201.4(ATP2A1):c.2958C>G (p.Phe986Leu) rs374856682
NM_173201.4(ATP2A1):c.2959G>A (p.Val987Ile) rs200445830
NM_173201.4(ATP2A1):c.295A>C (p.Ile99Leu) rs758104818
NM_173201.4(ATP2A1):c.296T>C (p.Ile99Thr) rs369637881
NM_173201.4(ATP2A1):c.328C>T (p.Arg110Trp) rs368388257
NM_173201.4(ATP2A1):c.329G>A (p.Arg110Gln) rs768820110
NM_173201.4(ATP2A1):c.362A>G (p.Glu121Gly) rs1555514985
NM_173201.4(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772
NM_173201.4(ATP2A1):c.433A>G (p.Ile145Val) rs1307339770
NM_173201.4(ATP2A1):c.479C>T (p.Pro160Leu) rs1596666779
NM_173201.4(ATP2A1):c.521G>A (p.Arg174Gln) rs149506518
NM_173201.4(ATP2A1):c.550T>G (p.Ser184Ala) rs1567482317
NM_173201.4(ATP2A1):c.580G>A (p.Val194Ile) rs201515814
NM_173201.4(ATP2A1):c.629C>T (p.Ser210Leu) rs772693650
NM_173201.4(ATP2A1):c.868C>T (p.Arg290Cys) rs374313207
NM_173201.4(ATP2A1):c.869G>A (p.Arg290His) rs368208565
NM_173201.4(ATP2A1):c.971G>A (p.Arg324His) rs751166692
NM_173201.4(ATP2A1):c.974G>A (p.Arg325Gln) rs767065944

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.