ClinVar Miner

List of variants in gene MPZ reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
Download table as spreadsheet
HGVS dbSNP
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*102C>T
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*341A>G
NM_000530.8(MPZ):c.*369C>T
NM_000530.8(MPZ):c.*435T>G
NM_000530.8(MPZ):c.*522C>A
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*752G>A
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*903G>A
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-10_-6dup rs1571822935
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.103G>C (p.Asp35His)
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.123_125del (p.Val42del) rs1571820248
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
NM_000530.8(MPZ):c.128G>T (p.Gly43Val) rs1571820237
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) rs121913598
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) rs1571820161
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) rs1571820161
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) rs1571820143
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
NM_000530.8(MPZ):c.149_151del (p.Cys50del) rs1553259792
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) rs1571820129
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) rs1553259785
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.190_192del (p.Phe64del) rs1571819975
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) rs1571819964
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) rs201720099
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) rs1571819911
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) rs1571819890
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) rs1571819875
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) rs573007540
NM_000530.8(MPZ):c.223del (p.Asp75fs) rs1571819824
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.235-1G>C rs1571819375
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.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.243C>G (p.His81Gln) rs1571819354
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) rs1553259707
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) rs1571819301
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) rs1060503418
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290_293del (p.Glu97fs) rs1571819196
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) rs121913590
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) rs1558154149
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) rs1571819127
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) rs1571819047
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) rs1468741050
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.346A>C (p.Asn116His) rs267607242
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) rs1571818972
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) rs1571818948
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) rs121913608
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.368G>T (p.Gly123Val) rs1553259656
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) rs1571818858
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) rs1571818905
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) rs1571818880
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) rs1571818845
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) rs772611598
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) rs1571818826
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) rs1571818819
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) rs1553259649
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) rs1571818800
NM_000530.8(MPZ):c.396_397del (p.Pro133fs) rs1571818797
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) rs1553259648
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) rs1571818775
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) rs1571818770
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.405A>G (p.Ile135Met) rs1571818752
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) rs863225025
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) rs863225025
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) rs1571818712
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) rs1571818702
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) rs1456458087
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) rs750724650
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) rs1571818648
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.436G>T (p.Val146Phe) rs1571818627
NM_000530.8(MPZ):c.437T>G (p.Val146Gly) rs1571818614
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
NM_000530.8(MPZ):c.449-1G>A rs1571818339
NM_000530.8(MPZ):c.449-1G>C rs1571818339
NM_000530.8(MPZ):c.449-1G>T rs1571818339
NM_000530.8(MPZ):c.449-9C>T rs750530042
NM_000530.8(MPZ):c.45T>G (p.Ala15=) rs1571822805
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) rs1571818312
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.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) rs1571818114
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) rs140671661
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.550C>G (p.Leu184Val) rs1571818032
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) rs1571818007
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
NM_000530.8(MPZ):c.551del (p.Leu184fs) rs1571818021
NM_000530.8(MPZ):c.553del (p.Arg185fs) rs1571818002
NM_000530.8(MPZ):c.554del (p.Arg185fs) rs1571817993
NM_000530.8(MPZ):c.560_566del (p.Gln187fs) rs1571817945
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
NM_000530.8(MPZ):c.570del (p.Gln191fs) rs1571817919
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) rs761291277
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) rs932826788
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) rs1571817547
NM_000530.8(MPZ):c.626_630del (p.Ala209fs) rs1571817499
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup rs1571817455
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) rs1571817201
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) rs1571817197
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) rs1571817154
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) rs1571817154
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) rs1571817094
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) rs1571816993
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) rs1571816977
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609

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.