ClinVar Miner

List of variants reported as pathogenic for X-linked myotubular myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149761067)_(149761149_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs) rs2148497926
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1116del (p.Val373fs)
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.116del (p.Pro39fs) rs2038979352
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1260+15C>G
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) rs2148511970
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) rs868972342
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) rs2148456062
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) rs147644722
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.473del (p.Lys158fs)
NM_000252.3(MTM1):c.516del (p.Glu172fs) rs2039803495
NM_000252.3(MTM1):c.528+1G>A
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) rs2148488410
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) rs2148488506
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.624del (p.Ser209fs) rs2039846270
NM_000252.3(MTM1):c.64-2A>G rs1603123976
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) rs2039919698
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs) rs2148493304
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867+2T>A
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865

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