ClinVar Miner

List of variants in gene MTM1 studied for X-linked centronuclear myopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 184
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NM_000252.2(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1053+1G>A rs587783751
NM_000252.2(MTM1):c.1053+1G>C rs587783751
NM_000252.2(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.2(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.2(MTM1):c.109C>T (p.Arg37Ter) rs587783753
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.2(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.2(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) rs797045711
NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.2(MTM1):c.1260+1G>A rs587783768
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261-1G>C rs587783770
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.2(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.2(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.2(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1353+1G>A rs587783779
NM_000252.2(MTM1):c.1353+2T>C rs587783780
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1354-1G>A rs587783782
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
NM_000252.2(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.2(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.2(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.2(MTM1):c.141_144del (p.Glu48fs) rs587783791
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.2(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.2(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.2(MTM1):c.1464_1467del rs587783797
NM_000252.2(MTM1):c.1467+1G>A rs587783798
NM_000252.2(MTM1):c.1467+1G>T rs587783798
NM_000252.2(MTM1):c.1467+2T>A rs587783799
NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.2(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.2(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.2(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.2(MTM1):c.1666C>T (p.Arg556Cys)
NM_000252.2(MTM1):c.1667G>A (p.Arg556His)
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.2(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.2(MTM1):c.231+1G>A rs587783810
NM_000252.2(MTM1):c.231+2T>G rs587783811
NM_000252.2(MTM1):c.232-1G>A rs587783812
NM_000252.2(MTM1):c.232-2A>C rs587783813
NM_000252.2(MTM1):c.232-3C>A rs587783814
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.233A>T (p.Asp78Val)
NM_000252.2(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.2(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.2(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.2(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.2(MTM1):c.342+1G>A rs1557413092
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.342_342+4delAGTAA rs797045717
NM_000252.2(MTM1):c.343-2A>G rs587783821
NM_000252.2(MTM1):c.395_396AT[1] (p.Met133fs) rs587783822
NM_000252.2(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.2(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.2(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.423G>A (p.Ala141=) rs377311110
NM_000252.2(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.2(MTM1):c.481G>A (p.Val161Met)
NM_000252.2(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.528+1G>T rs587783830
NM_000252.2(MTM1):c.529-2A>G rs587783831
NM_000252.2(MTM1):c.530G>T (p.Gly177Val)
NM_000252.2(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.2(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.2(MTM1):c.543C>G (p.His181Gln)
NM_000252.2(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.2(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.2(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.2(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000252.2(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.2(MTM1):c.5C>T (p.Ala2Val)
NM_000252.2(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.2(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.2(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.2(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.2(MTM1):c.63+1G>A rs587783843
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.2(MTM1):c.64-1G>A rs587783846
NM_000252.2(MTM1):c.64-2A>G
NM_000252.2(MTM1):c.65C>T (p.Thr22Met)
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.678+1G>A rs587783849
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.2(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.2(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.76_90del (p.Gly26_Asp30del)
NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.2(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.2(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.2(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.867+1_867+2insGG rs797045721
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000252.2(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.2(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) rs587783862
NM_000252.2(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.2(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.2(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.2(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.2(MTM1):c.96dup (p.Glu33Ter) rs797045724

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.