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

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		ClinVar version:

Total variants: 63

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603	0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	rs104894080	0.00004
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)	rs1299997613	0.00003
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)	rs104894075	0.00002
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)	rs397515456	0.00002
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	rs121913605	0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	rs121913590	0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His)	rs121913589	0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	rs121913609	0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)	rs28937906	0.00001
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	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.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.242A>G (p.His81Arg)	rs121913594
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.290A>T (p.Glu97Val)	rs121913606
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)	rs121913589
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)	rs121913600
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.404T>C (p.Ile135Thr)	rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)	rs121913588
NM_000530.8(MPZ):c.584+2T>G	rs879254054
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG	rs2102257349
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	rs267607247
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	rs267606772
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)	rs121909093
NM_001005361.3(DNM2):c.1664_1671+1del	rs1568314339
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)	rs121909094
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)	rs2060050669
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)	rs2060161763
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)	rs2060541274
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)	rs121908833
NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)	rs786204003
NM_003680.4(YARS1):c.458_469del (p.Val153_Val156del)	rs786200893
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	rs121908834
NM_004373.4(COX6A1):c.247-7_247-3del	rs587777783
NM_005548.3(KARS1):c.314T>A (p.Leu105His)	rs267607194
NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs)	rs587776688
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)	rs62636503
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	rs58982919
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)	rs1586803063
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)	rs104894076
NM_018972.4(GDAP1):c.579+1G>A	rs864622501
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)	rs121908112
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)	rs397515432
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)	rs202191898
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)	rs397515454
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter)	rs397515455
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)	rs387907340
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)	rs387907341
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)	rs387907034
NM_022489.4(INF2):c.311G>T (p.Cys104Phe)	rs387907035
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)	rs387907036
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)	rs387907037
NM_022489.4(INF2):c.395T>G (p.Leu132Arg)	rs387907038
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)	rs1555373599

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