ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP
NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.3(ACTA1):c.990+1G>T rs372686280
NM_001101362.2(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs) rs1553686994
NM_001271208.1(NEB):c.25509+1_25509+2ins5 rs1357452519
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001271208.2(NEB):c.10560+1G>A rs1553915731
NM_001271208.2(NEB):c.11076+1G>A rs1460365350
NM_001271208.2(NEB):c.11077-1G>A
NM_001271208.2(NEB):c.11181+2T>C rs1553904694
NM_001271208.2(NEB):c.11289+1G>C rs1553901249
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.1153-2A>G rs1553609515
NM_001271208.2(NEB):c.11602-2A>C rs1553891733
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.11909_11910+4del rs1553886582
NM_001271208.2(NEB):c.11910+1G>A rs774495973
NM_001271208.2(NEB):c.1258-2A>G rs1553608621
NM_001271208.2(NEB):c.13476+1G>A
NM_001271208.2(NEB):c.1365+2T>C rs770797137
NM_001271208.2(NEB):c.1366-2A>G rs1553607505
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.1470+1G>A rs1220787593
NM_001271208.2(NEB):c.1569+1G>A rs1553605553
NM_001271208.2(NEB):c.1570-2A>G rs1553603958
NM_001271208.2(NEB):c.1570-2_1574del rs1553603933
NM_001271208.2(NEB):c.1672_1674+2del rs1057516739
NM_001271208.2(NEB):c.1674+1G>T rs750585238
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001271208.2(NEB):c.18261+1G>T
NM_001271208.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.18471+1G>C rs1553769576
NM_001271208.2(NEB):c.18694-2del rs1553763404
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001271208.2(NEB):c.1897-1G>A rs1553593177
NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001271208.2(NEB):c.18996+2T>C
NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001271208.2(NEB):c.19207-1G>A rs1553755829
NM_001271208.2(NEB):c.19836+1G>T rs1446930968
NM_001271208.2(NEB):c.20157+2T>C rs1553717306
NM_001271208.2(NEB):c.20158-1G>C rs1553715579
NM_001271208.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter)
NM_001271208.2(NEB):c.20467-1G>T rs760082702
NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001271208.2(NEB):c.20577+2T>C rs1185654671
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641
NM_001271208.2(NEB):c.20682+1G>A
NM_001271208.2(NEB):c.20787+2T>C rs1337287633
NM_001271208.2(NEB):c.20788-1G>A rs1553695557
NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001271208.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001271208.2(NEB):c.21312+1G>A rs1553682994
NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001271208.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001271208.2(NEB):c.21735+1G>A rs1446706909
NM_001271208.2(NEB):c.21841-13_21848del rs767772838
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.2211+1G>A rs1553586486
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2212-2A>G rs1553580540
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter) rs1553646540
NM_001271208.2(NEB):c.22243del (p.Glu7415fs) rs1235589246
NM_001271208.2(NEB):c.22267-5_22267-2del rs1553644243
NM_001271208.2(NEB):c.22378-1G>A rs1553642332
NM_001271208.2(NEB):c.22584+1del rs1488066635
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22801-1G>A rs745511810
NM_001271208.2(NEB):c.22905+1G>A rs1302373559
NM_001271208.2(NEB):c.22905+2T>G rs1553627466
NM_001271208.2(NEB):c.23010+2T>C rs1553623367
NM_001271208.2(NEB):c.2310+2T>A rs1553579092
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23346+2T>A rs1553615846
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs) rs1553603438
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs) rs1553603400
NM_001271208.2(NEB):c.23556+1G>C rs1011425121
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23848-1G>C rs797045098
NM_001271208.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001271208.2(NEB):c.2389_2390AG[1] (p.Arg797fs) rs1057516938
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter) rs755970391
NM_001271208.2(NEB):c.23940+1G>A rs781120931
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24127-1G>A rs1553561697
NM_001271208.2(NEB):c.24127-1G>C rs1553561697
NM_001271208.2(NEB):c.24127-1_24134del rs1423137705
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs) rs1553561665
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24144del (p.Asn8048fs) rs1553561525
NM_001271208.2(NEB):c.2415+2T>C rs1057517399
NM_001271208.2(NEB):c.2416-1G>C rs1553565278
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs) rs1553561211
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs) rs1553556275
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24312+2T>C rs1553555768
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs) rs1553552413
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter) rs756726488
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs) rs1553551748
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs) rs1553551650
NM_001271208.2(NEB):c.24405+1G>A rs1366853918
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs) rs1553548771
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter) rs1553548752
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter) rs1332061304
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs) rs1553548207
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs) rs1553548018
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24499-1G>A rs1421095081
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer) rs797044606
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs) rs1553537512
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24685-1G>C
NM_001271208.2(NEB):c.24685-2A>G rs113290650
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter) rs1553536267
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs) rs1357811155
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24778-1G>A
NM_001271208.2(NEB):c.24778-2A>C rs112687345
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.24871-9_24872del rs1553530144
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter) rs1553526619
NM_001271208.2(NEB):c.25162+1G>A rs1191429915
NM_001271208.2(NEB):c.25162+1G>C rs1191429915
NM_001271208.2(NEB):c.25163-2A>C rs866309952
NM_001271208.2(NEB):c.25256-1G>T rs1553520609
NM_001271208.2(NEB):c.25402+1G>A rs113525641
NM_001271208.2(NEB):c.25402+2del rs1553519860
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter) rs1553519124
NM_001271208.2(NEB):c.25509+2T>A rs1553518813
NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001271208.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.2944-1G>A rs1553542669
NM_001271208.2(NEB):c.295-1G>T rs111300270
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.3147+1del rs1553539777
NM_001271208.2(NEB):c.3255+1G>C rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3255+1del rs1553538835
NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001271208.2(NEB):c.3567+1G>C rs587780399
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.37-1G>C rs1428597732
NM_001271208.2(NEB):c.3774+2T>C rs1553531049
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3880-1G>T rs1057516381
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.3988-1G>A rs1553517128
NM_001271208.2(NEB):c.403-6_405del rs1553689774
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001271208.2(NEB):c.4300-2A>C rs1553512813
NM_001271208.2(NEB):c.4506+1G>A rs112517981
NM_001271208.2(NEB):c.4719+2T>C rs1553501889
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.507+1G>A rs1553689057
NM_001271208.2(NEB):c.5344-1G>A rs1197561990
NM_001271208.2(NEB):c.5344-1G>C rs1197561990
NM_001271208.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001271208.2(NEB):c.5452-2A>G rs1057517317
NM_001271208.2(NEB):c.6075+1G>A rs1553472127
NM_001271208.2(NEB):c.6076-1G>T rs1553469502
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.613-2A>G rs752893483
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.6183+1del rs1553468960
NM_001271208.2(NEB):c.6183+2T>A rs1553468939
NM_001271208.2(NEB):c.6808-2A>T rs1553457607
NM_001271208.2(NEB):c.6811_6812CT[1] (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001271208.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951
NM_001271208.2(NEB):c.717+1G>A
NM_001271208.2(NEB):c.7227+2T>C rs1553448527
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001271208.2(NEB):c.7432-2A>G rs1553990438
NM_001271208.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001271208.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001271208.2(NEB):c.823-2A>G rs1553642811
NM_001271208.2(NEB):c.8374-1G>A rs1180407562
NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001271208.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001271208.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001271208.2(NEB):c.8889+1G>A rs1553963960
NM_001271208.2(NEB):c.8994+2T>C rs1553962493
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.2(NEB):c.9102+1G>A rs143644938
NM_001271208.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001271208.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001271208.2(NEB):c.927+1G>A rs374562457
NM_001271208.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001271208.2(NEB):c.9414+1G>A rs1255445731
NM_001271208.2(NEB):c.9414+1G>T rs1255445731
NM_001271208.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001271208.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001271208.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001271208.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001271208.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001271208.2(NEB):c.9619-1G>A rs1390379576
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9724-1G>A rs1553934586
NM_001271208.2(NEB):c.9724-2A>G rs1553934597
NM_001271208.2(NEB):c.9831+1G>A rs1553933986
NM_001271208.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_003289.3(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.3(TPM2):c.269G>A (p.Arg90His) rs1563929454
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
Single allele

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.