ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP
DNM2, 9-BP DEL, NT1652
NC_000004.11:g.(?_154125663)_(154197302_?)del
NC_000009.11:g.(?_130263279)_(130263432_?)del
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783
NM_000902.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.4(MME):c.439+2T>A rs1057519024
NM_000902.4(MME):c.654+1G>A rs1057519023
NM_000902.4(MME):c.655-2A>G rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005373.3(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001605.2(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002109.6(HARS1):c.1090G>T (p.Asp364Tyr) rs863225124
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile) rs143473232
NM_002109.6(HARS1):c.401C>A (p.Pro134His) rs863225122
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.525T>G (p.Asp175Glu) rs863225123
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723
NM_002180.2(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter) rs556292818
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) rs876661155
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) rs1565929090
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.3(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_015271.5(TRIM2):c.1781del (p.Lys594fs) rs587777838
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_015271.5(TRIM2):c.761A>T (p.Glu254Val) rs587777063
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter) rs746386202
NM_015726.4(DCAF8):c.949C>T (p.Arg317Cys) rs587777425
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) rs121908113
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) rs121908115
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) rs397515443
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs) rs876657411
NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs) rs876657412
NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) rs387906902
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840
NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter) rs863225440
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs) rs863225439
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) rs387907032
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs)
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) rs886041051
NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338

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