ClinVar Miner

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

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 67
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HGVS dbSNP
NC_000016.9:g.(?_28889809)_(28893910_?)dup
NM_004320.5(ATP2A1):c.1015G>A (p.Val339Ile)
NM_004320.5(ATP2A1):c.109G>A (p.Gly37Ser) rs200428113
NM_004320.5(ATP2A1):c.1136T>C (p.Leu379Pro)
NM_004320.5(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233
NM_004320.5(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015
NM_004320.5(ATP2A1):c.1283A>G (p.Asn428Ser)
NM_004320.5(ATP2A1):c.1287+5C>T rs377237562
NM_004320.5(ATP2A1):c.1294G>A (p.Gly432Ser) rs752021942
NM_004320.5(ATP2A1):c.1312G>A (p.Gly438Ser)
NM_004320.5(ATP2A1):c.136+2dup rs1415021206
NM_004320.5(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245
NM_004320.5(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727
NM_004320.5(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala)
NM_004320.5(ATP2A1):c.1400G>A (p.Arg467Lys) rs141453876
NM_004320.5(ATP2A1):c.1419G>A (p.Ser473=) rs749463179
NM_004320.5(ATP2A1):c.1427G>A (p.Arg476His) rs150068594
NM_004320.5(ATP2A1):c.1540G>C (p.Val514Leu) rs769174301
NM_004320.5(ATP2A1):c.1561G>A (p.Val521Ile) rs200092983
NM_004320.5(ATP2A1):c.1810C>T (p.Arg604Cys)
NM_004320.5(ATP2A1):c.1852G>A (p.Gly618Arg) rs781065366
NM_004320.5(ATP2A1):c.1909C>T (p.Arg637Trp)
NM_004320.5(ATP2A1):c.1910G>A (p.Arg637Gln)
NM_004320.5(ATP2A1):c.195_197CCT[1] (p.Leu67del) rs753865718
NM_004320.5(ATP2A1):c.1962G>A (p.Thr654=)
NM_004320.5(ATP2A1):c.1976A>G (p.Asp659Gly) rs1555516985
NM_004320.5(ATP2A1):c.1990G>A (p.Ala664Thr)
NM_004320.5(ATP2A1):c.2000G>A (p.Arg667Gln) rs141250244
NM_004320.5(ATP2A1):c.2014C>T (p.Arg672Cys)
NM_004320.5(ATP2A1):c.2077T>G (p.Ser693Ala) rs563510255
NM_004320.5(ATP2A1):c.208T>C (p.Cys70Arg)
NM_004320.5(ATP2A1):c.2182A>G (p.Lys728Glu)
NM_004320.5(ATP2A1):c.2209_2211GAC[1] (p.Asp738del) rs1180385645
NM_004320.5(ATP2A1):c.2239G>A (p.Val747Met)
NM_004320.5(ATP2A1):c.2366C>G (p.Pro789Arg)
NM_004320.5(ATP2A1):c.2414C>T (p.Thr805Ile)
NM_004320.5(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970
NM_004320.5(ATP2A1):c.2462C>A (p.Pro821His)
NM_004320.5(ATP2A1):c.251C>T (p.Thr84Ile)
NM_004320.5(ATP2A1):c.2521G>A (p.Gly841Arg)
NM_004320.5(ATP2A1):c.2545G>A (p.Val849Met)
NM_004320.5(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969
NM_004320.5(ATP2A1):c.2632G>A (p.Glu878Lys)
NM_004320.5(ATP2A1):c.2678C>T (p.Ala893Val) rs1237226867
NM_004320.5(ATP2A1):c.2750C>G (p.Ser917Cys) rs1555517373
NM_004320.5(ATP2A1):c.2752G>A (p.Glu918Lys) rs376101862
NM_004320.5(ATP2A1):c.2771G>A (p.Arg924Gln)
NM_004320.5(ATP2A1):c.2776C>T (p.Pro926Ser) rs769822529
NM_004320.5(ATP2A1):c.2944G>A (p.Glu982Lys)
NM_004320.5(ATP2A1):c.2958C>G (p.Phe986Leu)
NM_004320.5(ATP2A1):c.2959G>A (p.Val987Ile)
NM_004320.5(ATP2A1):c.295A>C (p.Ile99Leu)
NM_004320.5(ATP2A1):c.296T>C (p.Ile99Thr)
NM_004320.5(ATP2A1):c.328C>T (p.Arg110Trp)
NM_004320.5(ATP2A1):c.329G>A (p.Arg110Gln)
NM_004320.5(ATP2A1):c.362A>G (p.Glu121Gly) rs1555514985
NM_004320.5(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772
NM_004320.5(ATP2A1):c.433A>G (p.Ile145Val) rs1307339770
NM_004320.5(ATP2A1):c.479C>T (p.Pro160Leu)
NM_004320.5(ATP2A1):c.521G>A (p.Arg174Gln)
NM_004320.5(ATP2A1):c.550T>G (p.Ser184Ala) rs1567482317
NM_004320.5(ATP2A1):c.629C>T (p.Ser210Leu)
NM_004320.5(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350
NM_004320.5(ATP2A1):c.868C>T (p.Arg290Cys)
NM_004320.5(ATP2A1):c.869G>A (p.Arg290His)
NM_004320.5(ATP2A1):c.971G>A (p.Arg324His)
NM_004320.5(ATP2A1):c.974G>A (p.Arg325Gln)

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