ClinVar Miner

List of variants reported as pathogenic for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
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HGVS dbSNP
FGD4, 893T-G
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14101029-15449627)
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14104012-15551814)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh37/hg19 17p12(chr17:14110451-15449097)
GRCh37/hg19 17p12(chr17:14128550-15422557)
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
GRCh37/hg19 2q13(chr2:110824957-110983703)
MPZ, ASP195TYR
MPZ, THR216GLU-ARG
MTMR2, 10-BP DEL/2-BP INS
MTMR2, IVS13, G-A, +1
NC_000001.9:g.157610062_160185096del2575035
NC_000005.9:g.(?_148427405)_(148427572_?)del
NC_000005.9:g.(?_148442534)_(148442737_?)del
NC_000006.11:g.(?_110012619)_(110012724_?)del
NC_000006.11:g.(?_110062627)_(110064995_?)del
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NC_000011.9:g.(?_10215449)_(10215534_?)del
NC_000012.11:g.(?_32729286)_(32772810_?)del
NC_000019.9:g.(?_40909593)_(40909789_?)del
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs) rs786201017
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) rs104894522
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_003172.4(SURF1):c.107-2A>G rs782726390
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) rs199422214
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_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs)
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu) rs121434303
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu) rs121434299
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln) rs121434300
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser) rs121434301
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr) rs28939072
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile) rs28940281
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter)
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.290-2A>G
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) rs587777714
NM_015263.4(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1090C>T
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs)
NM_016156.5(MTMR2):c.1479+1G>A
NM_016156.5(MTMR2):c.1490dupC
NM_016156.5(MTMR2):c.1535_1536TA[3] (p.Ser514fs) rs1555057316
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs)
NM_016156.5(MTMR2):c.460_461GT[2] (p.Val154_Cys155insTer) rs1358449243
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.5(MTMR2):c.883C>T
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
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.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*1217del rs1555801290
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.3(SH3TC2):c.1745_1746AG[1] (p.Arg583fs) rs80338924
NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
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.1978C>T (p.Gln660Ter) rs1554121665
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663
NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2191del (p.Glu731fs) rs80338928
NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.3(SH3TC2):c.2487_2488AG[2] (p.Leu832fs) rs80338929
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
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.279G>A (p.Lys93=) rs776221160
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.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
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.3341del (p.Pro1114fs) rs80338936
NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.3(SH3TC2):c.3675+2dup rs1554120215
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.2536+1G>A rs1060500001
NM_030962.3(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.4443+1G>C
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_033500.2(HK1):c.-390-3818G>C rs397514654
NM_033500.2(HK1):c.-390-3838G>C rs797044964
NM_139241.3(FGD4):c.1043del (p.Pro348fs)
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1626_1627AG[1] (p.Glu543fs) rs1565921326
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) rs118203973
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1863_1864CA[1] (p.Thr622fs) rs1555223595
NM_139241.3(FGD4):c.2211dup (p.Ala738fs) rs1565942358
NM_139241.3(FGD4):c.514del (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.670C>T (p.Arg224Ter) rs118203972
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_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1390C>T (p.Arg464Ter)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.2689C>T (p.Arg897Ter)
NM_181882.2(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.2(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.2(PRX):c.627del (p.Ala210fs)
NP_000521.1(MPZ):p.Asn116Ser
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
PMP22, 1.1- to 1.5-MB DEL
PMP22, 1.4-MB DUP
PMP22, 1.4-MB TRIPLICATION
SBF2, EX11-12DEL
Single allele

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