List of variants reported as pathogenic for Charcot-Marie-Tooth disease by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 150

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HGVS	dbSNP
NC_012920.1:m.9185T>C	rs199476138
NM_000166.5(GJB1):c.123G>C (p.Glu41Asp)	rs116840816
NM_000166.5(GJB1):c.145T>C (p.Ser49Pro)	rs116840817
NM_000166.5(GJB1):c.164C>T (p.Thr55Ile)	rs104894824
NM_000166.5(GJB1):c.223C>T (p.Arg75Trp)	rs116840819
NM_000166.5(GJB1):c.225delG (p.Leu76Cysfs)	rs116840820
NM_000166.5(GJB1):c.407T>C (p.Val136Ala)	rs104894826
NM_000166.5(GJB1):c.415G>A (p.Val139Met)	rs104894812
NM_000166.5(GJB1):c.43C>T (p.Arg15Trp)	rs116840815
NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr)	rs116840822
NM_000166.5(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000166.5(GJB1):c.614A>G (p.Asn205Ser)	rs104894822
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys)	rs104894825
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	rs116840818
NM_000263.3(NAGLU):c.1208T>C (p.Ile403Thr)	rs796052122
NM_000304.3(PMP22):c.199G>C (p.Ala67Pro)	rs104894623
NM_000304.3(PMP22):c.47T>C (p.Leu16Pro)	rs104894617
NM_000304.3(PMP22):c.65C>T (p.Ser22Phe)	rs104894625
NM_000304.3(PMP22):c.82T>C (p.Trp28Arg)	rs104894626
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)	rs797044846
NM_000304.4(PMP22):c.281dup (p.Arg95Glnfs)	rs80338763
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	rs28936682
NM_000399.3(EGR2):c.1075C>T (p.Arg359Trp)	rs104894161
NM_000399.3(EGR2):c.1076G>A (p.Arg359Gln)	rs281865136
NM_000399.3(EGR2):c.1142G>A (p.Arg381His)	rs281865137
NM_000399.3(EGR2):c.1160C>A (p.Thr387Asn)	rs281865139
NM_000399.4(EGR2):c.1146T>G (p.Ser382Arg)	rs281865138
NM_000399.4(EGR2):c.1147G>T (p.Asp383Tyr)	rs104894160
NM_000399.4(EGR2):c.1225C>T (p.Arg409Trp)	rs104894159
NM_000399.4(EGR2):c.803T>A (p.Ile268Asn)	rs104894158
NM_000530.6(MPZ):c.131C>T (p.Ser44Phe)	rs121913598
NM_000530.6(MPZ):c.164G>T (p.Ser55Ile)	rs281865133
NM_000530.6(MPZ):c.181G>A (p.Asp61Asn)	rs797044845
NM_000530.6(MPZ):c.241C>T (p.His81Tyr)	rs281865123
NM_000530.6(MPZ):c.242A>G (p.His81Arg)	rs121913594
NM_000530.6(MPZ):c.244T>C (p.Tyr82His)	rs281865124
NM_000530.6(MPZ):c.306delA (p.Asp104Thrfs)	rs281865125
NM_000530.6(MPZ):c.337G>T (p.Val113Phe)	rs281865126
NM_000530.6(MPZ):c.347A>G (p.Asn116Ser)	rs281865130
NM_000530.6(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.6(MPZ):c.487G>A (p.Gly163Arg)	rs281865128
NM_000530.6(MPZ):c.487G>C (p.Gly163Arg)	rs281865128
NM_000530.6(MPZ):c.499G>A (p.Gly167Arg)	rs121913586
NM_000530.6(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NM_000530.6(MPZ):c.645+1G>T	rs281865131
NM_000530.6(MPZ):c.649C>T (p.Pro217Ser)	rs281865132
NM_000530.6(MPZ):c.670G>T (p.Asp224Tyr)	rs267607247
NM_000530.6(MPZ):c.89T>C (p.Ile30Thr)	rs281865121
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.7(MPZ):c.175T>A (p.Ser59Thr)	rs281865122
NM_000530.7(MPZ):c.224A>T (p.Asp75Val)	rs121913597
NM_000530.7(MPZ):c.266T>C (p.Ile89Thr)	rs267607244
NM_000530.7(MPZ):c.389A>G (p.Lys130Arg)	rs281865127
NM_000530.7(MPZ):c.393C>A (p.Asn131Lys)	rs121913599
NM_000530.7(MPZ):c.588dupT (p.Met197Tyrfs)	rs281865129
NM_001039550.1(DNAJB2):c.14A>G (p.Tyr5Cys)	rs730882140
NM_001039550.1(DNAJB2):c.229+1G>A	rs730882139
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)	rs116840823
NM_001135242.1(NDRG1):c.442C>T (p.Arg148Ter)	rs119483085
NM_001376.4(DYNC1H1):c.917A>G (p.His306Arg)	rs387906738
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala)	rs797044801
NM_001605.2(AARS1):c.986G>A (p.Arg329His)	rs267606621
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr)	rs756985703
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)	rs137852667
NM_002180.2(IGHMBP2):c.2784+1G>T	rs797044803
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs)	rs724159994
NM_002180.2(IGHMBP2):c.449+1G>T	rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val)	rs724159958
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp)	rs80338731
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_004715.4(CTDP1):c.863+389C>T	rs113994102
NM_004862.3(LITAF):c.332C>G (p.Ala111Gly)	rs281865134
NM_004862.3(LITAF):c.334G>A (p.Gly112Ser)	rs104894519
NM_004862.3(LITAF):c.344C>A (p.Thr115Asn)	rs104894520
NM_004862.3(LITAF):c.346T>G (p.Trp116Gly)	rs104894521
NM_004862.3(LITAF):c.385G>A (p.Ala129Thr)	rs797044847
NM_004862.3(LITAF):c.403C>A (p.Pro135Thr)	rs281865135
NM_004862.3(LITAF):c.403C>T (p.Pro135Ser)	rs281865135
NM_004862.3(LITAF):c.404C>G (p.Pro135Arg)	rs797044848
NM_004990.3(MARS1):c.1852C>T (p.Arg618Cys)	rs587777718
NM_004990.3(MARS1):c.2398C>A (p.Pro800Thr)	rs781249411
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro)	rs281865140
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.293A>G (p.Asn98Ser)	rs58982919
NM_006158.4(NEFL):c.446C>T (p.Ala149Val)	rs59101996
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr)	rs28928910
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser)	rs28928910
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg)	rs267607538
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)	rs104894351
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn)	rs104894345
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn)	rs104894345
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)	rs121908287
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu)	rs121908160
NM_015560.2(OPA1):c.1334G>A (p.Arg445His)	rs80356529
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter)	rs121434403
NM_018972.2(GDAP1):c.347T>G (p.Met116Arg)	rs281865060
NM_018972.2(GDAP1):c.715C>T (p.Leu239Phe)	rs104894080
NM_018972.3(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078
NM_018972.3(GDAP1):c.487C>T (p.Gln163Ter)	rs104894077
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_024577.3(SH3TC2):c.1178-1G>A	rs80338922
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His)	rs80338923
NM_024577.3(SH3TC2):c.1747_1748delAG (p.Arg583Alafs)	rs80338924
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)	rs80338926
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro)	rs80338927
NM_024577.3(SH3TC2):c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73Profs)	rs80338919
NM_024577.3(SH3TC2):c.2191delG (p.Glu731Lysfs)	rs80338928
NM_024577.3(SH3TC2):c.2491_2492delAG (p.Leu832Hisfs)	rs80338929
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile)	rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter)	rs80338931
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter)	rs80338932
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933
NM_024577.3(SH3TC2):c.28delG (p.Glu10Serfs)	rs80338918
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter)	rs80338934
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro)	rs80338935
NM_024577.3(SH3TC2):c.3341delC (p.Pro1114Leufs)	rs80338936
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter)	rs80338937
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)	rs80359890
NM_024577.3(SH3TC2):c.530-2A>G	rs80338920
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter)	rs80338921
NM_030973.3(MED25):c.1004C>T (p.Ala335Val)	rs145770066
NM_033498.2(HK1):c.-249-3838G>C	rs797044964
NM_138361.5(LRSAM1):c.1913-1G>A	rs756880678
NM_138361.5(LRSAM1):c.2121_2122dupGC (p.Leu708Argfs)	rs786200930
NM_139241.2(FGD4):c.1698G>H	rs281865064
NM_139241.3(FGD4):c.1325G>A (p.Arg442His)	rs281865063
NM_139241.3(FGD4):c.1762-2A>G	rs281865065
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter)	rs118203974
NM_139241.3(FGD4):c.893T>C (p.Met298Thr)	rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg)	rs63749871
NM_152296.4(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771
NM_170707.3(LMNA):c.1411C>T (p.Arg471Cys)	rs28928902
NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642
NM_170707.3(LMNA):c.1908C>T (p.Ser636=)	rs80356814
NM_170707.3(LMNA):c.398G>T (p.Arg133Leu)	rs60864230
NM_170707.3(LMNA):c.892C>T (p.Arg298Cys)	rs59885338
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn)	rs3814290
NM_181882.2(PRX):c.2098delG (p.Ala700Profs)	rs281865062
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter)	rs104894707
NM_181882.2(PRX):c.247delC (p.Leu83Cysfs)	rs281865061
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708
NP_000521.1(MPZ):p.Asn116Ser
PMP22, 1.4-MB DUP

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