List of variants reported as likely pathogenic for Nemaline myopathy 2 by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 203

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HGVS	dbSNP
NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs)	rs1553686994
NM_001271208.2(NEB):c.10560+1G>A	rs1553915731
NM_001271208.2(NEB):c.11076+1G>A	rs1460365350
NM_001271208.2(NEB):c.11181+2T>C	rs1553904694
NM_001271208.2(NEB):c.11289+1G>C	rs1553901249
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.1365+2T>C	rs770797137
NM_001271208.2(NEB):c.1366-2A>G	rs1553607505
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.1802_1803del (p.Asp600_Tyr601insTer)	rs1553601066
NM_001271208.2(NEB):c.18367-1_18367delinsAA	rs1553770178
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.19126_19151del (p.Gln6376fs)	rs1553757097
NM_001271208.2(NEB):c.19207-1G>A	rs1553755829
NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter)	rs1553740233
NM_001271208.2(NEB):c.19836+1G>T	rs1446930968
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266
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.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.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.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.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.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.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.24314_24317dup (p.Leu8106fs)	rs781667543
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.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.24659_24660dup (p.Arg8221fs)	rs1553537512
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.24778-2A>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.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+1_25509+2insATGGA	rs1357452519
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.3147+1del	rs1553539777
NM_001271208.2(NEB):c.3255+1G>C	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.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.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.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

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