ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NC_000002.12:g.(?_151485750)_(151957616_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NEB, 2-BP DEL, AG, EX172
NEB, 2-BP DEL, GA, EX181 rs1559154278
NM_001164508.2(NEB):c.10872+1G>A
NM_001164508.2(NEB):c.20157+2T>A
NM_001164508.2(NEB):c.7956+1G>A
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.2(NEB):c.1006_1018del (p.Asn336fs)
NM_001271208.2(NEB):c.10493del (p.Gly3498fs) rs1574014358
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350
NM_001271208.2(NEB):c.11010dup (p.Phe3671fs)
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs) rs1560499498
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.1152+1G>C
NM_001271208.2(NEB):c.11533G>T (p.Glu3845Ter)
NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001271208.2(NEB):c.11613del (p.Lys3871fs)
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001271208.2(NEB):c.12182del (p.Pro4061fs)
NM_001271208.2(NEB):c.12433G>T (p.Glu4145Ter)
NM_001271208.2(NEB):c.12457G>T (p.Glu4153Ter)
NM_001271208.2(NEB):c.12555del (p.Ala4184_Trp4185insTer)
NM_001271208.2(NEB):c.12639+1G>A
NM_001271208.2(NEB):c.12648C>G (p.Tyr4216Ter)
NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001271208.2(NEB):c.12733G>T (p.Glu4245Ter)
NM_001271208.2(NEB):c.12738del (p.Ile4246fs)
NM_001271208.2(NEB):c.12991C>T (p.Gln4331Ter)
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001271208.2(NEB):c.1333del (p.His445fs) rs1576704575
NM_001271208.2(NEB):c.13420C>T (p.Arg4474Ter)
NM_001271208.2(NEB):c.13441C>T (p.Gln4481Ter)
NM_001271208.2(NEB):c.13525del (p.Cys4509fs)
NM_001271208.2(NEB):c.13537A>T (p.Lys4513Ter)
NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001271208.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001271208.2(NEB):c.13773C>A (p.Tyr4591Ter) rs1553862114
NM_001271208.2(NEB):c.13780C>T (p.Gln4594Ter)
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.13788+1G>C
NM_001271208.2(NEB):c.1529_1533del (p.Val510fs)
NM_001271208.2(NEB):c.1558C>T (p.Gln520Ter)
NM_001271208.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001271208.2(NEB):c.1674+1G>A rs750585238
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.1676del (p.Asn559fs) rs1576600442
NM_001271208.2(NEB):c.17118+1G>A
NM_001271208.2(NEB):c.17196_17200del (p.Ile5732fs) rs1578011278
NM_001271208.2(NEB):c.17415C>A (p.Tyr5805Ter) rs555516831
NM_001271208.2(NEB):c.17653_17654del (p.Trp5885fs)
NM_001271208.2(NEB):c.17695dup (p.Leu5899fs)
NM_001271208.2(NEB):c.17734del (p.Gln5912fs)
NM_001271208.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer)
NM_001271208.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001271208.2(NEB):c.17845-1G>A rs1371849916
NM_001271208.2(NEB):c.17845-2A>T
NM_001271208.2(NEB):c.17986del (p.Thr5996fs) rs1577890764
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter) rs1577886635
NM_001271208.2(NEB):c.18211del (p.Asp6071fs)
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18696_18697insSVAelement
NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19711_19714del (p.Ala6571fs) rs1577244250
NM_001271208.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001271208.2(NEB):c.19851T>A (p.Tyr6617Ter)
NM_001271208.2(NEB):c.19929C>G (p.Tyr6643Ter)
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20281_20282dup (p.Phe6762fs)
NM_001271208.2(NEB):c.20467-2A>C rs1392500142
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter) rs370098540
NM_001271208.2(NEB):c.20633del (p.Asp6878fs)
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001271208.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.21052del (p.Asp7018fs) rs1576695735
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.21194_21195CT[2] (p.Tyr7067fs)
NM_001271208.2(NEB):c.21423del (p.Lys7141fs)
NM_001271208.2(NEB):c.21531C>A (p.Tyr7177Ter)
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.2200C>T (p.Gln734Ter)
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter) rs748922882
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22417_22420dup (p.Thr7474fs)
NM_001271208.2(NEB):c.22432C>T (p.Arg7478Ter) rs1576203853
NM_001271208.2(NEB):c.22523dup (p.Leu7508fs)
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22616del (p.Lys7539fs)
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22750G>T (p.Glu7584Ter)
NM_001271208.2(NEB):c.22881dup (p.Glu7628fs)
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter) rs752267876
NM_001271208.2(NEB):c.22936C>T (p.Arg7646Ter)
NM_001271208.2(NEB):c.23245C>T (p.Arg7749Ter) rs1575714905
NM_001271208.2(NEB):c.23456dup (p.Tyr7820fs) rs1559360386
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter) rs537560378
NM_001271208.2(NEB):c.23952del (p.Glu7985fs) rs1575305566
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24072dup (p.Pro8025fs)
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter) rs1323364980
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24311C>A (p.Ser8104Ter) rs1037388276
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.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24343dup (p.Thr8115fs) rs1575024425
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) rs747564597
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24409_24410dup (p.Leu8137fs) rs1559207733
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs) rs1574981296
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24502_24503dup (p.Leu8168fs)
NM_001271208.2(NEB):c.24507C>G (p.Tyr8169Ter)
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
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.24684G>C (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs) rs761067911
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter) rs760200697
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25364C>A (p.Ser8455Ter)
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.2647C>T (p.Arg883Ter)
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.2943+1G>A rs113091511
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)
NM_001271208.2(NEB):c.3270del (p.Asp1091fs)
NM_001271208.2(NEB):c.3384del (p.Asp1129fs)
NM_001271208.2(NEB):c.3473_3488del (p.Asn1158fs)
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3879+2T>C
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001271208.2(NEB):c.4417C>T (p.Arg1473Ter)
NM_001271208.2(NEB):c.4535_4536del (p.Leu1512fs)
NM_001271208.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001271208.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001271208.2(NEB):c.493C>T (p.Gln165Ter)
NM_001271208.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001271208.2(NEB):c.5245_5254del (p.Tyr1749fs)
NM_001271208.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
NM_001271208.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001271208.2(NEB):c.580C>T (p.Gln194Ter)
NM_001271208.2(NEB):c.5977dup (p.Tyr1993fs)
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001271208.2(NEB):c.6108_6111AAAG[1] (p.Lys2038fs) rs1575358650
NM_001271208.2(NEB):c.633G>A (p.Trp211Ter)
NM_001271208.2(NEB):c.6341_6342AC[3] (p.Ala2117fs) rs1575295628
NM_001271208.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.6542G>A (p.Trp2181Ter)
NM_001271208.2(NEB):c.6710del (p.Tyr2237fs)
NM_001271208.2(NEB):c.6734dup (p.Thr2246fs)
NM_001271208.2(NEB):c.6753del (p.Met2251fs)
NM_001271208.2(NEB):c.6824del (p.Gly2275fs)
NM_001271208.2(NEB):c.6993del (p.Val2332fs)
NM_001271208.2(NEB):c.724del (p.Tyr242fs) rs1577548638
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter) rs1575122070
NM_001271208.2(NEB):c.736del (p.Leu246fs)
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_001271208.2(NEB):c.78+1G>A rs778593702
NM_001271208.2(NEB):c.7892G>A (p.Trp2631Ter)
NM_001271208.2(NEB):c.7984del (p.Trp2661_Leu2662insTer)
NM_001271208.2(NEB):c.7997del (p.Gly2666fs)
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8425del (p.Arg2809fs) rs1574820458
NM_001271208.2(NEB):c.8458_8459del (p.Ser2820fs) rs776982138
NM_001271208.2(NEB):c.9217_9218del (p.Arg3073fs) rs1574526903
NM_001271208.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001271208.2(NEB):c.9775C>T (p.Arg3259Ter)
NM_001271208.2(NEB):c.9954T>G (p.Tyr3318Ter)

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.