ClinVar Miner

List of variants reported as pathogenic for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 228
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HGVS dbSNP
DES, 3-BP DEL, 720GAA
DES, GLU359-ALA360-SER361 DEL
DES, IVS2, G-A, -1
DES, IVS3DS, A-G, +3
NC_000002.11:g.(?_219135239)_(220290732_?)del
NC_000002.12:g.(?_219418453)_(219426000_?)del
NC_000007.13:g.(?_128469483)_(128500328_?)del
NC_000007.13:g.(?_128470682)_(128498587_?)del
NC_000007.14:g.(?_128830618)_(128858543_?)del
NC_000007.14:g.(?_128848551)_(128848992_?)del
NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs) rs1562988883
NM_001135940.2(MYOT):c.-197+305C>T rs121908458
NM_001135940.2(MYOT):c.-197+410G>T rs121908460
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) rs281864931
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) rs281864933
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His) rs387907339
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter) rs104894202
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) rs1566402514
NM_001289808.2(CRYAB):c.514del (p.Ala172fs)
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141
NM_001458.4(FLNC):c.1027A>T (p.Lys343Ter)
NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs) rs1554398092
NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter) rs199976790
NM_001458.4(FLNC):c.1844dup (p.Ile616fs)
NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs) rs1585156327
NM_001458.4(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.4(FLNC):c.1965_1966del (p.Ala656fs) rs1585156450
NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter) rs1446694237
NM_001458.4(FLNC):c.2119C>T (p.Gln707Ter)
NM_001458.4(FLNC):c.2390-10_2406del rs1554398674
NM_001458.4(FLNC):c.2507del (p.Pro836fs)
NM_001458.4(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.4(FLNC):c.3039C>A (p.Cys1013Ter) rs1554399014
NM_001458.4(FLNC):c.3084C>A (p.Tyr1028Ter)
NM_001458.4(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.4(FLNC):c.3415del (p.His1139fs)
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.4(FLNC):c.3699del (p.Val1235fs)
NM_001458.4(FLNC):c.3791-1G>C rs781135153
NM_001458.4(FLNC):c.3854del (p.Gly1285fs)
NM_001458.4(FLNC):c.3933_3937del (p.Tyr1312fs)
NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.4(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.4(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.4(FLNC):c.4108C>T (p.Arg1370Ter)
NM_001458.4(FLNC):c.4127+1G>T rs1346981294
NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) rs1562998858
NM_001458.4(FLNC):c.444G>A (p.Trp148Ter) rs1554397197
NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.4(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter) rs1585163755
NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.4(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.4(FLNC):c.4984C>T (p.Gln1662Ter)
NM_001458.4(FLNC):c.5165del (p.Gly1722fs) rs1554400242
NM_001458.4(FLNC):c.5469_5482del (p.Val1824fs)
NM_001458.4(FLNC):c.5478T>G (p.Tyr1826Ter) rs371167779
NM_001458.4(FLNC):c.554G>A (p.Trp185Ter) rs1585151331
NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter) rs1563001456
NM_001458.4(FLNC):c.5672delG rs1563001548
NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs) rs1585166614
NM_001458.4(FLNC):c.5697dup (p.Ser1900fs) rs1554400700
NM_001458.4(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.4(FLNC):c.5904dup (p.Ile1969fs) rs1585167678
NM_001458.4(FLNC):c.6190dup (p.Val2064fs)
NM_001458.4(FLNC):c.6242dup (p.Ser2082fs) rs1585168573
NM_001458.4(FLNC):c.6447del (p.Ile2150fs) rs1563003153
NM_001458.4(FLNC):c.6753dup (p.Ala2252fs)
NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.4(FLNC):c.697C>T (p.Gln233Ter) rs1554397464
NM_001458.4(FLNC):c.7251+1G>A rs1554401581
NM_001458.4(FLNC):c.7251+1G>T
NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter) rs1554401756
NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter) rs540386120
NM_001458.4(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs) rs1554401830
NM_001458.4(FLNC):c.752T>C (p.Met251Thr) rs387906586
NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs) rs1554401837
NM_001458.4(FLNC):c.7660del (p.Glu2554fs)
NM_001458.4(FLNC):c.774del (p.Lys259fs) rs1554397506
NM_001458.4(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.4(FLNC):c.964G>T (p.Glu322Ter)
NM_001458.5(FLNC):c.1205del (p.Thr402fs)
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)
NM_001458.5(FLNC):c.156dup (p.Val53fs)
NM_001458.5(FLNC):c.1670del (p.Pro557fs)
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)
NM_001458.5(FLNC):c.2084del (p.Arg695fs)
NM_001458.5(FLNC):c.2234del (p.Gly745fs)
NM_001458.5(FLNC):c.2432del (p.Gly811fs)
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
NM_001458.5(FLNC):c.2508del (p.Ala838fs)
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)
NM_001458.5(FLNC):c.2604del (p.Ser868fs)
NM_001458.5(FLNC):c.261del (p.Pro88fs)
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)
NM_001458.5(FLNC):c.2905del (p.Ile969fs)
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)
NM_001458.5(FLNC):c.3702del (p.Val1235fs)
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)
NM_001458.5(FLNC):c.563del (p.Gly188fs)
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs) rs1585171628
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) rs121913000
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1132_1153del (p.Lys378fs) rs1575014943
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1237G>T (p.Glu413Ter) rs61726467
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.194dup (p.Leu66fs)
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
NM_001927.4(DES):c.309del (p.Thr104fs)
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) rs1553603239
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.394C>T (p.Gln132Ter) rs1060503165
NM_001927.4(DES):c.452_459del (p.Val151fs)
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.525_526del (p.Val176fs)
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) rs281864927
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.2(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.2(MYOT):c.17G>A (p.Arg6His) rs387906882
NM_007078.3(LDB3):c.690-4678C>T rs121908334
NM_007078.3(LDB3):c.690-4732C>T rs281865143
NM_007078.3(LDB3):c.690-4733G>A rs121908333
NM_007078.3(LDB3):c.896+6753C>T rs121908335
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278
NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) rs116840778
NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) rs1008642
NM_133378.4(TTN):c.10361-1G>A rs869312099

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