List of variants reported as pathogenic for congenital myopathy by Genetic Services Laboratory, University of Chicago

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 138

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)	rs587780494	0.00003
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)	rs587783753	0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	rs587783771	0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	rs121909090	0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)	rs372277017	0.00001
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)	rs797045711
NM_000252.3(MTM1):c.1015dup (p.Ser339fs)	rs797045709
NM_000252.3(MTM1):c.1053+1G>C	rs587783751
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)	rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs)	rs587783752
NM_000252.3(MTM1):c.1120C>G (p.His374Asp)	rs587783754
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)	rs587783755
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)	rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)	rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)	rs587783758
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)	rs587783759
NM_000252.3(MTM1):c.1178dup (p.Leu393fs)	rs1557414513
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)	rs587783761
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala)	rs587783762
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter)	rs587783763
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	rs587783766
NM_000252.3(MTM1):c.1260+1G>A	rs587783768
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1261-1G>C	rs587783770
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	rs587783772
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs)	rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs)	rs797045712
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)	rs797045713
NM_000252.3(MTM1):c.1307del (p.Pro436fs)	rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs)	rs797045714
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)	rs587783778
NM_000252.3(MTM1):c.1349_1353+4del	rs797045715
NM_000252.3(MTM1):c.1353+1G>A	rs587783779
NM_000252.3(MTM1):c.1353+2T>C	rs587783780
NM_000252.3(MTM1):c.1354-1G>A	rs587783782
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)	rs587783783
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile)	rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter)	rs587783786
NM_000252.3(MTM1):c.139_141del (p.Lys47del)	rs587783788
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)	rs587783789
NM_000252.3(MTM1):c.141_144del	rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)	rs587783792
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val)	rs587783793
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser)	rs587783794
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)	rs587783795
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)	rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe)	rs587783796
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)	rs587783797
NM_000252.3(MTM1):c.1467+1G>A	rs587783798
NM_000252.3(MTM1):c.1467+1G>T	rs587783798
NM_000252.3(MTM1):c.1467+2T>A	rs587783799
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg)	rs587783801
NM_000252.3(MTM1):c.1509del (p.Asn503fs)	rs587783802
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)	rs587783803
NM_000252.3(MTM1):c.154del (p.Ile52fs)	rs587783804
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)	rs587783805
NM_000252.3(MTM1):c.1792del (p.His598fs)	rs34119065
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)	rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)	rs587783809
NM_000252.3(MTM1):c.231+1G>A	rs587783810
NM_000252.3(MTM1):c.231+2T>G	rs587783811
NM_000252.3(MTM1):c.232-1G>A	rs587783812
NM_000252.3(MTM1):c.232-2A>C	rs587783813
NM_000252.3(MTM1):c.232-3C>A	rs587783814
NM_000252.3(MTM1):c.252del (p.Asp84fs)	rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)	rs587783816
NM_000252.3(MTM1):c.2T>G (p.Met1Arg)	rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)	rs587783818
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter)	rs587783819
NM_000252.3(MTM1):c.342+1G>A	rs1557413092
NM_000252.3(MTM1):c.342_342+4del	rs797045717
NM_000252.3(MTM1):c.343-2A>G	rs587783821
NM_000252.3(MTM1):c.397_398del (p.Met133fs)	rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile)	rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs)	rs587783824
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)	rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)	rs587783825
NM_000252.3(MTM1):c.431del (p.Leu144fs)	rs587783826
NM_000252.3(MTM1):c.465del (p.Asn155fs)	rs1557413783
NM_000252.3(MTM1):c.469del (p.Glu157fs)	rs587783827
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)	rs587783828
NM_000252.3(MTM1):c.528+1G>T	rs587783830
NM_000252.3(MTM1):c.529-2A>G	rs587783831
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)	rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs)	rs587783833
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)	rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs)	rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)	rs587783835
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)	rs587783836
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)	rs132630302
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)	rs587783839
NM_000252.3(MTM1):c.611T>G (p.Val204Gly)	rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	rs587783841
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)	rs587783842
NM_000252.3(MTM1):c.63+1G>A	rs587783843
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)	rs587783845
NM_000252.3(MTM1):c.64-1G>A	rs587783846
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.678+1G>A	rs587783849
NM_000252.3(MTM1):c.679G>A (p.Val227Met)	rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)	rs587783851
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	rs398123274
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	rs132630305
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)	rs587783854
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser)	rs587783855
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)	rs587783856
NM_000252.3(MTM1):c.808_811del (p.Gln270fs)	rs797045720
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)	rs587783857
NM_000252.3(MTM1):c.867+1G>A	rs587783858
NM_000252.3(MTM1):c.867_867+1dup	rs797045721
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)	rs587783859
NM_000252.3(MTM1):c.912del (p.Glu305fs)	rs587783860
NM_000252.3(MTM1):c.949dup (p.Met317fs)	rs797045722
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)	rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs)	rs587783864
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)	rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs)	rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter)	rs797045724
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	rs587783595
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)	rs587783597
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu)	rs587780272
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)	rs1553255362
NM_001164508.2(NEB):c.1471-1G>A	rs1553605995
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs)	rs797045735
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs)	rs587780397
NM_001164508.2(NEB):c.24996del (p.Gln8333fs)	rs1553526884
NM_001164508.2(NEB):c.3567+1G>A	rs587780399
NM_001164508.2(NEB):c.3774+1G>A	rs111293259
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)	rs587780490
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	rs199476153
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	rs1557813850
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)	rs587783343

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