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

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

Total variants: 202

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_001164508.2(NEB):c.24114+1G>A	rs755239192	0.00009
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	rs200731870	0.00004
NM_001164508.2(NEB):c.11910+1G>A	rs774495973	0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	rs749452641	0.00003
NM_001164508.2(NEB):c.22800+1G>A	rs1302373559	0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	rs754272530	0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)	rs776569219	0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)	rs1057517977	0.00002
NM_001164508.2(NEB):c.11076+1G>A	rs1460365350	0.00001
NM_001164508.2(NEB):c.1153-2A>G	rs1553609515	0.00001
NM_001164508.2(NEB):c.1258-2A>G	rs1553608621	0.00001
NM_001164508.2(NEB):c.1365+2T>C	rs770797137	0.00001
NM_001164508.2(NEB):c.1470+1G>A	rs1220787593	0.00001
NM_001164508.2(NEB):c.1674+1G>T	rs750585238	0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	rs539819851	0.00001
NM_001164508.2(NEB):c.18891+1G>A	rs1443738549	0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)	rs1553740233	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001164508.2(NEB):c.20577+2T>C	rs1185654671	0.00001
NM_001164508.2(NEB):c.20787+2T>C	rs1337287633	0.00001
NM_001164508.2(NEB):c.21736-13_21743del	rs767772838	0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.22591-1G>C	rs757157808	0.00001
NM_001164508.2(NEB):c.22696-1G>A	rs745511810	0.00001
NM_001164508.2(NEB):c.22905+2T>C	rs1553623367	0.00001
NM_001164508.2(NEB):c.23451+1G>T	rs1011425121	0.00001
NM_001164508.2(NEB):c.24022-1G>C	rs1553561697	0.00001
NM_001164508.2(NEB):c.2415+2T>C	rs1057517399	0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)	rs1553552413	0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	rs756726488	0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	rs1218073575	0.00001
NM_001164508.2(NEB):c.24300+1G>A	rs1366853918	0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)	rs1257495033	0.00001
NM_001164508.2(NEB):c.24393+1G>A	rs775631800	0.00001
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA	rs1357452519	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	rs1553548666	0.00001
NM_001164508.2(NEB):c.294+2T>C	rs773952935	0.00001
NM_001164508.2(NEB):c.37-1G>A	rs1428597732	0.00001
NM_001164508.2(NEB):c.3879+1G>A	rs746999970	0.00001
NM_001164508.2(NEB):c.5344-1G>C	rs1197561990	0.00001
NM_001164508.2(NEB):c.6076-1G>T	rs1553469502	0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)	rs756363951	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_001164508.2(NEB):c.9414+1G>T	rs1255445731	0.00001
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)	rs1553679273
NM_001164507.2(NEB):c.21358del (p.Leu7120fs)	rs1553678967
NM_001164508.2(NEB):c.10560+1G>A	rs1553915731
NM_001164508.2(NEB):c.11181+2T>C	rs1553904694
NM_001164508.2(NEB):c.11289+1G>C	rs1553901249
NM_001164508.2(NEB):c.11602-2A>C	rs1553891733
NM_001164508.2(NEB):c.11909_11910+4del	rs1553886582
NM_001164508.2(NEB):c.1366-2A>G	rs1553607505
NM_001164508.2(NEB):c.1570-2A>G	rs1553603958
NM_001164508.2(NEB):c.1570-2_1574del	rs1553603933
NM_001164508.2(NEB):c.1672_1674+2del	rs1057516739
NM_001164508.2(NEB):c.1674+2T>C	rs1553603437
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)	rs1553601066
NM_001164508.2(NEB):c.18367-1_18367delinsAA	rs1553770178
NM_001164508.2(NEB):c.18471+1G>C	rs1553769576
NM_001164508.2(NEB):c.18694-2del	rs1553763404
NM_001164508.2(NEB):c.1897-1G>A	rs1553593177
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)	rs761964375
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs)	rs1553757097
NM_001164508.2(NEB):c.19207-1G>A	rs1553755829
NM_001164508.2(NEB):c.19836+1G>T	rs1446930968
NM_001164508.2(NEB):c.20157+2T>C	rs1553717306
NM_001164508.2(NEB):c.20158-1G>C	rs1553715579
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs)	rs1553710982
NM_001164508.2(NEB):c.20467-1G>T	rs760082702
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter)	rs1242775893
NM_001164508.2(NEB):c.20788-1G>A	rs1553695557
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter)	rs1553694860
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs)	rs1553688242
NM_001164508.2(NEB):c.21312+1G>A	rs1553682994
NM_001164508.2(NEB):c.21630+1G>A	rs1446706909
NM_001164508.2(NEB):c.21736-2A>G	rs1389892619
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter)	rs1553646540
NM_001164508.2(NEB):c.2211+1G>A	rs1553586486
NM_001164508.2(NEB):c.2212-2A>G	rs1553580540
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)	rs1235589246
NM_001164508.2(NEB):c.22162-5_22162-2del	rs1553644243
NM_001164508.2(NEB):c.22273-1G>A	rs1553642332
NM_001164508.2(NEB):c.22479+1del	rs1488066635
NM_001164508.2(NEB):c.22800+2T>G	rs1553627466
NM_001164508.2(NEB):c.2310+2T>A	rs1553579092
NM_001164508.2(NEB):c.23241+2T>A	rs1553615846
NM_001164508.2(NEB):c.23378del (p.Met7793fs)	rs1553603690
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs)	rs1553603438
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)	rs1553603400
NM_001164508.2(NEB):c.23451+1G>C	rs1011425121
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter)	rs755970391
NM_001164508.2(NEB):c.23835+1G>A	rs781120931
NM_001164508.2(NEB):c.2385del (p.Gln795fs)	rs1553568167
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs)	rs1057516938
NM_001164508.2(NEB):c.24022-1G>A	rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del	rs1423137705
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs)	rs1553561665
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)	rs772009599
NM_001164508.2(NEB):c.24039del (p.Asn8013fs)	rs1553561525
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)	rs1553561211
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs)	rs1553556275
NM_001164508.2(NEB):c.2416-1G>C	rs1553565278
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	rs1266535163
NM_001164508.2(NEB):c.24207+2T>C	rs1553555768
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)	rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	rs1553552384
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)	rs1553551748
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs)	rs1553551650
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)	rs1553548771
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter)	rs1553548752
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter)	rs1332061304
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)	rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)	rs1553548207
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs)	rs1553548018
NM_001164508.2(NEB):c.24394-1G>A	rs1421095081
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)	rs1553537512
NM_001164508.2(NEB):c.24580-2A>G	rs113290650
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter)	rs1553536267
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)	rs1357811155
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)	rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	rs794727136
NM_001164508.2(NEB):c.24673-2A>C	rs112687345
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	rs776059611
NM_001164508.2(NEB):c.24766-9_24767del	rs1553530144
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter)	rs1553526619
NM_001164508.2(NEB):c.25057+1G>A	rs1191429915
NM_001164508.2(NEB):c.25057+1G>C	rs1191429915
NM_001164508.2(NEB):c.25058-2A>C	rs866309952
NM_001164508.2(NEB):c.25151-1G>T	rs1553520609
NM_001164508.2(NEB):c.25297+1G>A	rs113525641
NM_001164508.2(NEB):c.25297+2del	rs1553519860
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter)	rs1553519124
NM_001164508.2(NEB):c.25404+2T>A	rs1553518813
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)	rs1553558398
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer)	rs1553557405
NM_001164508.2(NEB):c.2944-1G>A	rs1553542669
NM_001164508.2(NEB):c.295-1G>T	rs111300270
NM_001164508.2(NEB):c.3147+1del	rs1553539777
NM_001164508.2(NEB):c.3255+1G>C	rs375628303
NM_001164508.2(NEB):c.3255+1del	rs1553538835
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)	rs1159756073
NM_001164508.2(NEB):c.3567+1G>C	rs587780399
NM_001164508.2(NEB):c.37-1G>C	rs1428597732
NM_001164508.2(NEB):c.3774+2T>C	rs1553531049
NM_001164508.2(NEB):c.3880-1G>T	rs1057516381
NM_001164508.2(NEB):c.3880-2A>G	rs1342507012
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG	rs786204576
NM_001164508.2(NEB):c.3988-1G>A	rs1553517128
NM_001164508.2(NEB):c.403-6_405del	rs1553689774
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	rs1057517360
NM_001164508.2(NEB):c.4300-2A>C	rs1553512813
NM_001164508.2(NEB):c.4506+1G>A	rs112517981
NM_001164508.2(NEB):c.4719+2T>C	rs1553501889
NM_001164508.2(NEB):c.5031+1G>A	rs1553495140
NM_001164508.2(NEB):c.507+1G>A	rs1553689057
NM_001164508.2(NEB):c.5344-1G>A	rs1197561990
NM_001164508.2(NEB):c.5451+2_5451+11del	rs1553487838
NM_001164508.2(NEB):c.5452-2A>G	rs1057517317
NM_001164508.2(NEB):c.6075+1G>A	rs1553472127
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)	rs1057516758
NM_001164508.2(NEB):c.613-1G>C	rs767693366
NM_001164508.2(NEB):c.613-2A>G	rs752893483
NM_001164508.2(NEB):c.6183+1G>A	rs557870969
NM_001164508.2(NEB):c.6183+1del	rs1553468960
NM_001164508.2(NEB):c.6183+2T>A	rs1553468939
NM_001164508.2(NEB):c.6808-2A>T	rs1553457607
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)	rs1180339426
NM_001164508.2(NEB):c.7227+2T>C	rs1553448527
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)	rs1057516348
NM_001164508.2(NEB):c.7432-2A>G	rs1553990438
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)	rs1373493309
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)	rs1553983416
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)	rs398124172
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)	rs1057516676
NM_001164508.2(NEB):c.823-2A>G	rs1553642811
NM_001164508.2(NEB):c.8374-1G>A	rs1180407562
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs)	rs765403861
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)	rs1553964158
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter)	rs1553963973
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001164508.2(NEB):c.8994+2T>C	rs1553962493
NM_001164508.2(NEB):c.9102+1G>A	rs143644938
NM_001164508.2(NEB):c.9108del (p.Lys3036fs)	rs1553948395
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter)	rs1553947423
NM_001164508.2(NEB):c.927+1G>A	rs374562457
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)	rs193042896
NM_001164508.2(NEB):c.9414+1G>A	rs1255445731
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)	rs1553939806
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter)	rs1553939774
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs)	rs1553939660
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter)	rs1553939648
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001164508.2(NEB):c.9485del (p.Val3162fs)	rs1553939284
NM_001164508.2(NEB):c.9576del (p.Glu3193fs)	rs1553938571
NM_001164508.2(NEB):c.9619-1G>A	rs1390379576
NM_001164508.2(NEB):c.9724-1G>A	rs1553934586
NM_001164508.2(NEB):c.9724-2A>G	rs1553934597
NM_001164508.2(NEB):c.9831+1G>A	rs1553933986
NM_001164508.2(NEB):c.9943del (p.Asp3315fs)	rs1553930053
NM_001271208.1(NEB):c.21103delG	rs1553686994

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.