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782 records found for search term Fgd4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8555922CV16051single nucleotide variantFGD4, 893T-GCharcot-Marie-Tooth disease, type 4H [RCV000001067]pathogenic|likely pathogenicHumanname
11610123CV316844single nucleotide variantNM_001370298.3(FGD4):c.*22G>ACharcot-Marie-Tooth disease type 4H [RCV000377512]|not provided [RCV001569529]benign|likely benign123264055532640555Human1name
598205302CV3896812single nucleotide variantNM_001370298.3(FGD4):c.-35G>TCharcot-Marie-Tooth disease [RCV005356990]uncertain significance123239975932399759Human1name
28872130CV869681single nucleotide variantNM_001370298.3(FGD4):c.*27G>ACharcot-Marie-Tooth disease type 4H [RCV001114410]|not provided [RCV001593275]benign|likely benign123264056032640560Human1name
28872133CV869682single nucleotide variantNM_001370298.3(FGD4):c.*69T>CCharcot-Marie-Tooth disease type 4H [RCV001114411]uncertain significance123264060232640602Human1name
11658045CV316845single nucleotide variantNM_001370298.3(FGD4):c.*762G>TCharcot-Marie-Tooth disease type 4H [RCV000346003]uncertain significance123264129532641295Human1name
11610649CV316851single nucleotide variantNM_001370298.3(FGD4):c.*792A>TCharcot-Marie-Tooth disease type 4H [RCV000384141]|not provided [RCV004706938]benign|likely benign123264132532641325Human1name
11613247CV330501single nucleotide variantNM_001370298.3(FGD4):c.*290G>ACharcot-Marie-Tooth disease type 4H [RCV000266834]|not provided [RCV001582946]benign|likely benign|uncertain significance123264082332640823Human1name
11655251CV330511single nucleotide variantNM_001370298.3(FGD4):c.*411A>GCharcot-Marie-Tooth disease type 4H [RCV000324248]uncertain significance123264094432640944Human1name
11661921CV331872single nucleotide variantNM_001370298.3(FGD4):c.*497T>CCharcot-Marie-Tooth disease type 4H [RCV000381133]uncertain significance123264103032641030Human1name
11649675CV331878single nucleotide variantNM_001370298.3(FGD4):c.*734G>ACharcot-Marie-Tooth disease type 4H [RCV000288674]uncertain significance123264126732641267Human1name
11616182CV331879single nucleotide variantNM_001370298.3(FGD4):c.*795G>ACharcot-Marie-Tooth disease type 4H [RCV000292208]uncertain significance123264132832641328Human1name
28872135CV869683single nucleotide variantNM_001370298.3(FGD4):c.*131A>GCharcot-Marie-Tooth disease type 4H [RCV001114412]uncertain significance123264066432640664Human1name
28911330CV869684single nucleotide variantNM_001370298.3(FGD4):c.*167G>ACharcot-Marie-Tooth disease type 4H [RCV001110378]likely benign123264070032640700Human1name
28911331CV869685single nucleotide variantNM_001370298.3(FGD4):c.*368T>CCharcot-Marie-Tooth disease type 4H [RCV001110379]uncertain significance123264090132640901Human1name
28911332CV869686single nucleotide variantNM_001370298.3(FGD4):c.*712C>TCharcot-Marie-Tooth disease type 4H [RCV001110380]uncertain significance123264124532641245Human1name
126909069CV1047911single nucleotide variantNM_001370298.3(FGD4):c.503+3A>CCharcot-Marie-Tooth disease type 4 [RCV001368217]uncertain significance123257645232576452Human1name
155266305CV1699749single nucleotide variantNM_001370298.3(FGD4):c.166+1G>Anot specified [RCV002281851]uncertain significance123239996032399960Humanname
156396730CV1985235single nucleotide variantNM_001370298.3(FGD4):c.504-9A>GCharcot-Marie-Tooth disease type 4 [RCV002635548]likely benign123258195132581951Human1name
405084892CV2983349single nucleotide variantNM_001370298.3(FGD4):c.504-2A>CCharcot-Marie-Tooth disease type 4 [RCV003744269]likely pathogenic123258195832581958Human1name
405096202CV3134962single nucleotide variantNM_001370298.3(FGD4):c.504-8T>CCharcot-Marie-Tooth disease type 4 [RCV003835114]likely benign123258195232581952Human1name
11612370CV316853single nucleotide variantNM_001370298.3(FGD4):c.*1007G>ACharcot-Marie-Tooth disease type 4H [RCV000407793]benign|likely benign123264154032641540Human1name
11606693CV316854single nucleotide variantNM_001370298.3(FGD4):c.*1133A>CCharcot-Marie-Tooth disease type 4H [RCV000334527]|not provided [RCV004706939]benign123264166632641666Human1name
11645323CV316856single nucleotide variantNM_001370298.3(FGD4):c.*1354A>GCharcot-Marie-Tooth disease type 4H [RCV000264730]uncertain significance123264188732641887Human1name
11662128CV316857single nucleotide variantNM_001370298.3(FGD4):c.*1704C>GCharcot-Marie-Tooth disease type 4H [RCV000382917]uncertain significance123264223732642237Human1name
11655950CV316859single nucleotide variantNM_001370298.3(FGD4):c.*1781G>ACharcot-Marie-Tooth disease type 4H [RCV000329526]uncertain significance123264231432642314Human1name
11649938CV316860single nucleotide variantNM_001370298.3(FGD4):c.*3482G>TCharcot-Marie-Tooth disease type 4H [RCV000290091]uncertain significance123264401532644015Human1name
11608542CV316862deletionNM_001370298.3(FGD4):c.*3920delCharcot-Marie-Tooth disease type 4 [RCV000356483]likely benign123264445332644453Human1name
11608287CV316863single nucleotide variantNM_001370298.3(FGD4):c.*4211T>CCharcot-Marie-Tooth disease type 4H [RCV000353088]benign|likely benign123264474432644744Human1name
11606478CV316865duplicationNM_001370298.3(FGD4):c.*4369dupCharcot-Marie-Tooth disease type 4 [RCV000332236]benign123264488832644889Human1name
11600319CV316867single nucleotide variantNM_001370298.3(FGD4):c.*4454G>ACharcot-Marie-Tooth disease type 4H [RCV000273032]|not provided [RCV003221905]benign|uncertain significance123264498732644987Human1name
11599910CV316868single nucleotide variantNM_001370298.3(FGD4):c.*4756A>GCharcot-Marie-Tooth disease type 4H [RCV000269306]uncertain significance123264528932645289Human1name
11648975CV316869single nucleotide variantNM_001370298.3(FGD4):c.*4862C>ACharcot-Marie-Tooth disease type 4H [RCV000284614]uncertain significance123264539532645395Human1name
11658773CV316873single nucleotide variantNM_001370298.3(FGD4):c.*5152C>TCharcot-Marie-Tooth disease type 4H [RCV000351580]uncertain significance123264568532645685Human1name
11612294CV316874single nucleotide variantNM_001370298.3(FGD4):c.*5177G>ACharcot-Marie-Tooth disease type 4 [RCV000406658]uncertain significance123264571032645710Human1name
11599751CV316878single nucleotide variantNM_001370298.3(FGD4):c.*5484T>CCharcot-Marie-Tooth disease type 4 [RCV000268400]uncertain significance123264601732646017Human1name
11618525CV324413single nucleotide variantNM_001370298.3(FGD4):c.*1068A>GCharcot-Marie-Tooth disease type 4H [RCV000314632]benign|uncertain significance123264160132641601Human1name
11652187CV324415single nucleotide variantNM_001370298.3(FGD4):c.*1356T>GCharcot-Marie-Tooth disease type 4H [RCV000303404]uncertain significance123264188932641889Human1name
11613410CV324416single nucleotide variantNM_001370298.3(FGD4):c.*1485T>CCharcot-Marie-Tooth disease type 4H [RCV000268179]uncertain significance123264201832642018Human1name
11656424CV324417single nucleotide variantNM_001370298.3(FGD4):c.*1908G>CCharcot-Marie-Tooth disease type 4H [RCV000333059]uncertain significance123264244132642441Human1name
11614717CV324419single nucleotide variantNM_001370298.3(FGD4):c.*2026A>GCharcot-Marie-Tooth disease type 4H [RCV000279095]uncertain significance123264255932642559Human1name
11615180CV324422single nucleotide variantNM_001370298.3(FGD4):c.*2374G>TCharcot-Marie-Tooth disease type 4H [RCV000282828]uncertain significance123264290732642907Human1name
11620701CV324427single nucleotide variantNM_001370298.3(FGD4):c.*2462C>ACharcot-Marie-Tooth disease type 4H [RCV000340161]uncertain significance123264299532642995Human1name
11625866CV324431single nucleotide variantNM_001370298.3(FGD4):c.*2537C>ACharcot-Marie-Tooth disease type 4H [RCV000403721]benign|likely benign123264307032643070Human1name
11622256CV324432single nucleotide variantNM_001370298.3(FGD4):c.*3044T>CCharcot-Marie-Tooth disease type 4H [RCV000358323]uncertain significance123264357732643577Human1name
11620191CV324433deletionNM_001370298.3(FGD4):c.*3148delCharcot-Marie-Tooth disease type 4 [RCV000333825]benign123264367032643670Human1name
11624598CV324442single nucleotide variantNM_001370298.3(FGD4):c.*3150A>GCharcot-Marie-Tooth disease type 4H [RCV000388276]uncertain significance123264368332643683Human1name
11662299CV324445single nucleotide variantNM_001370298.3(FGD4):c.*3438C>TCharcot-Marie-Tooth disease type 4H [RCV000384661]uncertain significance123264397132643971Human1name
11614493CV324447single nucleotide variantNM_001370298.3(FGD4):c.*4268A>GCharcot-Marie-Tooth disease type 4H [RCV000277220]uncertain significance123264480132644801Human1name
11655267CV324449duplicationNM_001370298.3(FGD4):c.*4772dupCharcot-Marie-Tooth disease type 4 [RCV000324329]|not provided [RCV004693100]uncertain significance123264529332645294Human1name
11657285CV324458single nucleotide variantNM_001370298.3(FGD4):c.*4925A>TCharcot-Marie-Tooth disease type 4H [RCV000339954]uncertain significance123264545832645458Human1name
11618147CV324459single nucleotide variantNM_001370298.3(FGD4):c.*5198G>ACharcot-Marie-Tooth disease type 4H [RCV000310944]|not provided [RCV004706951]benign123264573132645731Human1name
11617014CV330520single nucleotide variantNM_001370298.3(FGD4):c.*1160G>ACharcot-Marie-Tooth disease type 4H [RCV000299996]uncertain significance123264169332641693Human1name
11622467CV330525single nucleotide variantNM_001370298.3(FGD4):c.*1454A>GCharcot-Marie-Tooth disease type 4H [RCV000360536]|not provided [RCV004708253]benign123264198732641987Human1name
11613865CV330532single nucleotide variantNM_001370298.3(FGD4):c.*1723C>TCharcot-Marie-Tooth disease type 4H [RCV000272086]|not provided [RCV004706942]benign|likely benign123264225632642256Human1name
11624481CV330549single nucleotide variantNM_001370298.3(FGD4):c.*1828A>TCharcot-Marie-Tooth disease type 4H [RCV000386428]|not provided [RCV004708254]benign|likely benign123264236132642361Human1name
11620432CV330550single nucleotide variantNM_001370298.3(FGD4):c.*2103A>GCharcot-Marie-Tooth disease type 4H [RCV000336679]likely benign|uncertain significance123264263632642636Human1name
11617530CV330552single nucleotide variantNM_001370298.3(FGD4):c.*2638A>GCharcot-Marie-Tooth disease type 4H [RCV000305266]likely benign|uncertain significance123264317132643171Human1name
11621964CV330563single nucleotide variantNM_001370298.3(FGD4):c.*3130G>ACharcot-Marie-Tooth disease type 4H [RCV000354721]|not provided [RCV004706944]benign|likely benign123264366332643663Human1name
11612488CV330566single nucleotide variantNM_001370298.3(FGD4):c.*3130G>TCharcot-Marie-Tooth disease type 4H [RCV000259808]|not provided [RCV004706945]benign|likely benign123264366332643663Human1name
11616316CV330567single nucleotide variantNM_001370298.3(FGD4):c.*3340A>CCharcot-Marie-Tooth disease type 4H [RCV000293762]|not provided [RCV004706946]benign|uncertain significance123264387332643873Human1name
11626118CV330571single nucleotide variantNM_001370298.3(FGD4):c.*3676A>GCharcot-Marie-Tooth disease type 4H [RCV000407044]|not provided [RCV004703632]likely benign|uncertain significance123264420932644209Human1name
11651918CV330574single nucleotide variantNM_001370298.3(FGD4):c.*3905A>GCharcot-Marie-Tooth disease type 4H [RCV000301548]uncertain significance123264443832644438Human1name
11616827CV330586single nucleotide variantNM_001370298.3(FGD4):c.*4128C>TCharcot-Marie-Tooth disease type 4H [RCV000298156]benign|likely benign123264466132644661Human1name
11623053CV330594single nucleotide variantNM_001370298.3(FGD4):c.*4438A>GCharcot-Marie-Tooth disease type 4H [RCV000367614]|not provided [RCV004706949]benign123264497132644971Human1name
11619673CV330596single nucleotide variantNM_001370298.3(FGD4):c.*4497G>ACharcot-Marie-Tooth disease type 4H [RCV000328028]likely benign|uncertain significance123264503032645030Human1name
11623931CV330597single nucleotide variantNM_001370298.3(FGD4):c.*4831C>TCharcot-Marie-Tooth disease type 4H [RCV000379049]likely benign|uncertain significance123264536432645364Human1name
11620382CV330604single nucleotide variantNM_001370298.3(FGD4):c.*4991A>GCharcot-Marie-Tooth disease type 4H [RCV000336307]|not provided [RCV004708255]benign123264552432645524Human1name
11654200CV330610single nucleotide variantNM_001370298.3(FGD4):c.*5072A>GCharcot-Marie-Tooth disease type 4H [RCV000315564]uncertain significance123264560532645605Human1name
11617749CV330614single nucleotide variantNM_001370298.3(FGD4):c.*5309C>TCharcot-Marie-Tooth disease type 4H [RCV000307549]uncertain significance123264584232645842Human1name
11658532CV331880single nucleotide variantNM_001370298.3(FGD4):c.*1006C>TCharcot-Marie-Tooth disease type 4H [RCV000349592]uncertain significance123264153932641539Human1name
11625779CV331882single nucleotide variantNM_001370298.3(FGD4):c.*1148C>TCharcot-Marie-Tooth disease type 4H [RCV000402828]|not provided [RCV004706940]benign|likely benign123264168132641681Human1name
11622183CV331884single nucleotide variantNM_001370298.3(FGD4):c.*1274G>ACharcot-Marie-Tooth disease type 4H [RCV000357163]uncertain significance123264180732641807Human1name
11619458CV331890single nucleotide variantNM_001370298.3(FGD4):c.*1492T>GCharcot-Marie-Tooth disease type 4H [RCV000325578]|not provided [RCV004706941]benign123264202532642025Human1name
11650727CV331891single nucleotide variantNM_001370298.3(FGD4):c.*1866T>GCharcot-Marie-Tooth disease type 4H [RCV000294455]uncertain significance123264239932642399Human1name
11624777CV331894single nucleotide variantNM_001370298.3(FGD4):c.*1954A>GCharcot-Marie-Tooth disease type 4H [RCV000389845]|not provided [RCV004706943]benign123264248732642487Human1name
11624834CV331898single nucleotide variantNM_001370298.3(FGD4):c.*2203T>CCharcot-Marie-Tooth disease type 4H [RCV000391491]benign|uncertain significance123264273632642736Human1name
11622614CV331915single nucleotide variantNM_001370298.3(FGD4):c.*2813C>TCharcot-Marie-Tooth disease type 4H [RCV000362340]uncertain significance123264334632643346Human1name
11652217CV331918single nucleotide variantNM_001370298.3(FGD4):c.*3037C>ACharcot-Marie-Tooth disease type 4H [RCV000303565]uncertain significance123264357032643570Human1name
11619857CV331934single nucleotide variantNM_001370298.3(FGD4):c.*3367G>TCharcot-Marie-Tooth disease type 4H [RCV000330072]likely benign|uncertain significance123264390032643900Human1name
11621156CV331937single nucleotide variantNM_001370298.3(FGD4):c.*3630T>CCharcot-Marie-Tooth disease type 4H [RCV000345280]benign|likely benign123264416332644163Human1name
11615514CV331938single nucleotide variantNM_001370298.3(FGD4):c.*3770G>TCharcot-Marie-Tooth disease type 4H [RCV000286713]|not provided [RCV004706947]benign123264430332644303Human1name
11657508CV331954single nucleotide variantNM_001370298.3(FGD4):c.*3814A>GCharcot-Marie-Tooth disease type 4H [RCV000341727]uncertain significance123264434732644347Human1name
11626017CV331958single nucleotide variantNM_001370298.3(FGD4):c.*4063A>GCharcot-Marie-Tooth disease type 4H [RCV000405557]|not provided [RCV004706948]benign|likely benign123264459632644596Human1name
11624174CV331959single nucleotide variantNM_001370298.3(FGD4):c.*4652T>CCharcot-Marie-Tooth disease type 4H [RCV000382612]benign|likely benign123264518532645185Human1name
11623671CV331971single nucleotide variantNM_001370298.3(FGD4):c.*4956T>ACharcot-Marie-Tooth disease type 4H [RCV000375923]|not provided [RCV004706950]benign|likely benign123264548932645489Human1name
11614966CV331973single nucleotide variantNM_001370298.3(FGD4):c.*4977G>CCharcot-Marie-Tooth disease type 4H [RCV000281300]uncertain significance123264551032645510Human1name
11664645CV331974single nucleotide variantNM_001370298.3(FGD4):c.*5020G>CCharcot-Marie-Tooth disease type 4H [RCV000407905]uncertain significance123264555332645553Human1name
11660293CV331981single nucleotide variantNM_001370298.3(FGD4):c.*5223G>ACharcot-Marie-Tooth disease type 4H [RCV000365576]uncertain significance123264575632645756Human1name
11613744CV331986single nucleotide variantNM_001370298.3(FGD4):c.*5244G>ACharcot-Marie-Tooth disease type 4H [RCV000271092]likely benign|uncertain significance123264577732645777Human1name
11659914CV331991single nucleotide variantNM_001370298.3(FGD4):c.*5329G>CCharcot-Marie-Tooth disease type 4H [RCV000362290]uncertain significance123264586232645862Human1name
12741196CV360089single nucleotide variantNM_001370298.3(FGD4):c.319+1G>Anot specified [RCV000414379]uncertain significance123256429032564290Humanname
28869427CV869687single nucleotide variantNM_001370298.3(FGD4):c.*1259A>GCharcot-Marie-Tooth disease type 4H [RCV001113115]uncertain significance123264179232641792Human1name
28869431CV869688single nucleotide variantNM_001370298.3(FGD4):c.*1351A>TCharcot-Marie-Tooth disease type 4H [RCV001113116]uncertain significance123264188432641884Human1name
28869433CV869689single nucleotide variantNM_001370298.3(FGD4):c.*1365T>CCharcot-Marie-Tooth disease type 4H [RCV001113117]uncertain significance123264189832641898Human1name
28869435CV869690single nucleotide variantNM_001370298.3(FGD4):c.*1375C>TCharcot-Marie-Tooth disease type 4H [RCV001113118]uncertain significance123264190832641908Human1name
28872332CV869691single nucleotide variantNM_001370298.3(FGD4):c.*1530T>CCharcot-Marie-Tooth disease type 4H [RCV001114498]uncertain significance123264206332642063Human1name
28872334CV869692single nucleotide variantNM_001370298.3(FGD4):c.*1564T>CCharcot-Marie-Tooth disease type 4H [RCV001114499]benign123264209732642097Human1name
28911386CV869693single nucleotide variantNM_001370298.3(FGD4):c.*2096T>ACharcot-Marie-Tooth disease type 4H [RCV001110461]uncertain significance123264262932642629Human1name
28911387CV869694single nucleotide variantNM_001370298.3(FGD4):c.*2192G>ACharcot-Marie-Tooth disease type 4H [RCV001110462]uncertain significance123264272532642725Human1name
28911808CV869695single nucleotide variantNM_001370298.3(FGD4):c.*2264G>ACharcot-Marie-Tooth disease type 4H [RCV001111213]uncertain significance123264279732642797Human1name
28911809CV869696single nucleotide variantNM_001370298.3(FGD4):c.*2309G>ACharcot-Marie-Tooth disease type 4H [RCV001111214]uncertain significance123264284232642842Human1name
28911810CV869697single nucleotide variantNM_001370298.3(FGD4):c.*2487C>ACharcot-Marie-Tooth disease type 4H [RCV001111215]|not provided [RCV002292606]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance123264302032643020Human1name
28869679CV869698single nucleotide variantNM_001370298.3(FGD4):c.*2648G>ACharcot-Marie-Tooth disease type 4H [RCV001113219]uncertain significance123264318132643181Human1name
28869681CV869699single nucleotide variantNM_001370298.3(FGD4):c.*2859G>ACharcot-Marie-Tooth disease type 4H [RCV001113220]uncertain significance123264339232643392Human1name
28869683CV869700single nucleotide variantNM_001370298.3(FGD4):c.*3022A>GCharcot-Marie-Tooth disease type 4H [RCV001113221]uncertain significance123264355532643555Human1name
28872521CV869701single nucleotide variantNM_001370298.3(FGD4):c.*3195T>GCharcot-Marie-Tooth disease type 4H [RCV001114581]uncertain significance123264372832643728Human1name
28872524CV869702single nucleotide variantNM_001370298.3(FGD4):c.*3543G>CCharcot-Marie-Tooth disease type 4H [RCV001114582]uncertain significance123264407632644076Human1name
28910176CV869703single nucleotide variantNM_001370298.3(FGD4):c.*3937A>GCharcot-Marie-Tooth disease type 4H [RCV001108957]uncertain significance123264447032644470Human1name
28910178CV869704single nucleotide variantNM_001370298.3(FGD4):c.*3940G>ACharcot-Marie-Tooth disease type 4H [RCV001108958]uncertain significance123264447332644473Human1name
28910180CV869705single nucleotide variantNM_001370298.3(FGD4):c.*3994A>GCharcot-Marie-Tooth disease type 4H [RCV001108959]uncertain significance123264452732644527Human1name
28910181CV869706single nucleotide variantNM_001370298.3(FGD4):c.*4014C>ACharcot-Marie-Tooth disease type 4H [RCV001108960]likely benign123264454732644547Human1name
28911887CV869707single nucleotide variantNM_001370298.3(FGD4):c.*4028A>GCharcot-Marie-Tooth disease type 4H [RCV001111314]likely benign123264456132644561Human1name
28911888CV869708single nucleotide variantNM_001370298.3(FGD4):c.*4118G>ACharcot-Marie-Tooth disease type 4H [RCV001111315]uncertain significance123264465132644651Human1name
28911889CV869709single nucleotide variantNM_001370298.3(FGD4):c.*4192G>TCharcot-Marie-Tooth disease type 4H [RCV001111316]benign123264472532644725Human1name
28911890CV869710single nucleotide variantNM_001370298.3(FGD4):c.*4317T>GCharcot-Marie-Tooth disease type 4H [RCV001111317]uncertain significance123264485032644850Human1name
28869908CV869711single nucleotide variantNM_001370298.3(FGD4):c.*4347T>CCharcot-Marie-Tooth disease type 4H [RCV001113322]uncertain significance123264488032644880Human1name
28869911CV869712single nucleotide variantNM_001370298.3(FGD4):c.*4446A>GCharcot-Marie-Tooth disease type 4H [RCV001113323]uncertain significance123264497932644979Human1name
28869913CV869713single nucleotide variantNM_001370298.3(FGD4):c.*4585T>ACharcot-Marie-Tooth disease type 4H [RCV001113324]likely benign123264511832645118Human1name
28872759CV869714single nucleotide variantNM_001370298.3(FGD4):c.*4832G>ACharcot-Marie-Tooth disease type 4H [RCV001114691]uncertain significance123264536532645365Human1name
28872761CV869715single nucleotide variantNM_001370298.3(FGD4):c.*4988G>ACharcot-Marie-Tooth disease type 4H [RCV001114692]benign123264552132645521Human1name
28910311CV869716single nucleotide variantNM_001370298.3(FGD4):c.*5153G>ACharcot-Marie-Tooth disease type 4H [RCV001109067]uncertain significance123264568632645686Human1name
28910312CV869717single nucleotide variantNM_001370298.3(FGD4):c.*5243C>TCharcot-Marie-Tooth disease type 4H [RCV001109068]uncertain significance123264577632645776Human1name
28911959CV869718single nucleotide variantNM_001370298.3(FGD4):c.*5265A>GCharcot-Marie-Tooth disease type 4H [RCV001111407]uncertain significance123264579832645798Human1name
28911960CV869719single nucleotide variantNM_001370298.3(FGD4):c.*5321G>ACharcot-Marie-Tooth disease type 4H [RCV001111408]uncertain significance123264585432645854Human1name
28911961CV869720single nucleotide variantNM_001370298.3(FGD4):c.*5389A>GCharcot-Marie-Tooth disease type 4H [RCV001111409]uncertain significance123264592232645922Human1name
127295367CV1122571single nucleotide variantNM_001370298.3(FGD4):c.1248-7G>ACharcot-Marie-Tooth disease type 4 [RCV001459723]likely benign123260215432602154Human1name
127301017CV1122573single nucleotide variantNM_001370298.3(FGD4):c.1543+8C>TCharcot-Marie-Tooth disease type 4 [RCV001454034]likely benign123260810332608103Human1name
150337174CV1172409single nucleotide variantNM_001370298.3(FGD4):c.167-83T>Anot provided [RCV001541466]benign123256405432564054Humanname
150410840CV1177596single nucleotide variantNM_001370298.3(FGD4):c.167-60T>Cnot provided [RCV001546853]likely benign123256407732564077Humanname
151802895CV1354424single nucleotide variantNM_001370298.3(FGD4):c.2313+5G>CCharcot-Marie-Tooth disease type 4 [RCV001867287]|Inborn genetic diseases [RCV004039568]uncertain significance123263369432633694Human2name
151835977CV1367000single nucleotide variantNM_001370298.3(FGD4):c.1602+1G>CCharcot-Marie-Tooth disease type 4 [RCV001994195]likely pathogenic123261083532610835Human1name
151851132CV1378091single nucleotide variantNM_001370298.3(FGD4):c.1248-3C>ACharcot-Marie-Tooth disease type 4 [RCV002016600]uncertain significance123260215832602158Human1name
151879702CV1411107duplicationNM_001370298.3(FGD4):c.1404+5dupCharcot-Marie-Tooth disease type 4 [RCV002019975]uncertain significance123260232132602322Human1name
151879710CV1411108single nucleotide variantNM_001370298.3(FGD4):c.1404+6A>TCharcot-Marie-Tooth disease type 4 [RCV002019976]uncertain significance123260232332602323Human1name
151820161CV1416113single nucleotide variantNM_001370298.3(FGD4):c.2455-5T>GCharcot-Marie-Tooth disease type 4 [RCV001919488]|Inborn genetic diseases [RCV002423061]likely benign|uncertain significance123264027132640271Human2name
151798789CV1445815single nucleotide variantNM_001370298.3(FGD4):c.1404+2T>ACharcot-Marie-Tooth disease type 4 [RCV002011371]likely pathogenic123260231932602319Human1name
152168222CV1524828single nucleotide variantNM_001370298.3(FGD4):c.2455-7T>CCharcot-Marie-Tooth disease type 4 [RCV002182368]likely benign123264026932640269Human1name
152102481CV1571647single nucleotide variantNM_001370298.3(FGD4):c.1603-9A>TCharcot-Marie-Tooth disease type 4 [RCV002173284]likely benign123261112832611128Human1name
152025697CV1586493single nucleotide variantNM_001370298.3(FGD4):c.1248-9T>ACharcot-Marie-Tooth disease type 4 [RCV002184906]likely benign123260215232602152Human1name
8595271CV16056single nucleotide variantNM_001370298.3(FGD4):c.2173-2A>GCharcot-Marie-Tooth disease [RCV000789105]|Charcot-Marie-Tooth disease type 4H [RCV000001072]pathogenic|conflicting interpretations of pathogenicity|uncertain significance123263354732633547Human2name
152075177CV1629245single nucleotide variantNM_001370298.3(FGD4):c.1953+7C>GCharcot-Marie-Tooth disease type 4 [RCV002130118]likely benign123262445932624459Human1name
156322766CV1882538single nucleotide variantNM_001370298.3(FGD4):c.1248-4A>GCharcot-Marie-Tooth disease type 4 [RCV003089278]likely benign123260215732602157Human1name
156087544CV1953310single nucleotide variantNM_001370298.3(FGD4):c.1102-4T>GCharcot-Marie-Tooth disease type 4 [RCV002570111]likely benign123260127432601274Human1name
156224482CV2081028deletionNM_001370298.3(FGD4):c.2172+7delCharcot-Marie-Tooth disease type 4 [RCV002853335]likely benign123262578632625786Human1name
156147167CV2119099single nucleotide variantNM_001370298.3(FGD4):c.1543+9T>CCharcot-Marie-Tooth disease type 4 [RCV002954439]likely benign123260810432608104Human1name
155949239CV2164799single nucleotide variantNM_001370298.3(FGD4):c.1248-3C>TCharcot-Marie-Tooth disease type 4 [RCV003032338]uncertain significance123260215832602158Human1name
11059908CV226815single nucleotide variantNM_001370298.3(FGD4):c.1954-8T>CCharcot-Marie-Tooth disease [RCV001172948]|Charcot-Marie-Tooth disease type 4 [RCV000210493]|Charcot-Marie-Tooth disease type 4H [RCV001094177]|not provided [RCV004703479]|not specified [RCV000426397]benign|likely benign123262496832624968Human3name
405087164CV2880444single nucleotide variantNM_001370298.3(FGD4):c.1923-7A>TCharcot-Marie-Tooth disease type 4 [RCV003582579]likely benign123262441532624415Human1name
405095039CV2949335single nucleotide variantNM_001370298.3(FGD4):c.1405-7A>TCharcot-Marie-Tooth disease type 4 [RCV003745765]likely benign123260795032607950Human1name
405082409CV2973108single nucleotide variantNM_001370298.3(FGD4):c.1102-6A>GCharcot-Marie-Tooth disease type 4 [RCV003744098]likely benign123260127232601272Human1name
405086638CV2993470single nucleotide variantNM_001370298.3(FGD4):c.1101+7T>ACharcot-Marie-Tooth disease type 4 [RCV003744430]likely benign123259859332598593Human1name
11605279CV316828single nucleotide variantNM_001370298.3(FGD4):c.1404+4A>TCharcot-Marie-Tooth disease type 4 [RCV001366739]|Charcot-Marie-Tooth disease type 4H [RCV000317934]uncertain significance123260232132602321Human2name
11609967CV316833single nucleotide variantNM_001370298.3(FGD4):c.1404+8G>ACharcot-Marie-Tooth disease [RCV001174112]|Charcot-Marie-Tooth disease type 4 [RCV000374914]|Charcot-Marie-Tooth disease type 4H [RCV001094093]|not provided [RCV001706467]|not specified [RCV000516621]benign|likely benign123260232532602325Human3name
11614537CV330499single nucleotide variantNM_001370298.3(FGD4):c.2047-7T>CCharcot-Marie-Tooth disease [RCV001174108]|Charcot-Marie-Tooth disease type 4 [RCV000277525]|Charcot-Marie-Tooth disease type 4H [RCV001094179]|not provided [RCV001706468]|not specified [RCV000518416]benign|likely benign123262564732625647Human3name
11648674CV331863single nucleotide variantNM_001370298.3(FGD4):c.1405-4A>GCharcot-Marie-Tooth disease type 4H [RCV000282914]uncertain significance123260795332607953Human1name
12840627CV372235single nucleotide variantNM_001370298.3(FGD4):c.2172+8A>TCharcot-Marie-Tooth disease type 4 [RCV002059900]|not specified [RCV000431071]likely benign123262578732625787Human1name
597906281CV3846690single nucleotide variantNM_001370298.3(FGD4):c.503+17A>CCharcot-Marie-Tooth disease type 4 [RCV005182117]likely benign123257646632576466Human1name
597965323CV3848236single nucleotide variantNM_001370298.3(FGD4):c.2173-8A>CCharcot-Marie-Tooth disease type 4 [RCV005194116]likely benign123263354132633541Human1name
597893262CV3857058single nucleotide variantNM_001370298.3(FGD4):c.1247+5G>ACharcot-Marie-Tooth disease type 4 [RCV005200921]uncertain significance123260142832601428Human1name
13496708CV463031single nucleotide variantNM_001370298.3(FGD4):c.1922+4A>GCharcot-Marie-Tooth disease type 4 [RCV000538038]uncertain significance123261987432619874Human1name
13540345CV504836single nucleotide variantNM_001370298.3(FGD4):c.1923-7A>GCharcot-Marie-Tooth disease type 4 [RCV000654289]|not provided [RCV002066722]|not specified [RCV000614570]benign|likely benign|uncertain significance123262441532624415Human1name
13625832CV527143single nucleotide variantNM_001370298.3(FGD4):c.1603-9A>GCharcot-Marie-Tooth disease type 4 [RCV000654050]uncertain significance123261112832611128Human1name
14700485CV625757single nucleotide variantNM_001370298.3(FGD4):c.1248-2A>GCharcot-Marie-Tooth disease [RCV000790325]|Charcot-Marie-Tooth disease type 4H [RCV003447311]uncertain significance123260215932602159Human2name
14699645CV625758single nucleotide variantNM_001370298.3(FGD4):c.1248-1G>ACharcot-Marie-Tooth disease [RCV000789108]|Charcot-Marie-Tooth disease type 4H [RCV003447173]uncertain significance123260216032602160Human2name
14699643CV625759single nucleotide variantNM_001370298.3(FGD4):c.1543+1G>ACharcot-Marie-Tooth disease [RCV000789106]|Charcot-Marie-Tooth disease type 4H [RCV003447171]uncertain significance123260809632608096Human2name
14733318CV652321single nucleotide variantNM_001370298.3(FGD4):c.1749+3G>ACharcot-Marie-Tooth disease type 4 [RCV000818655]uncertain significance123261128632611286Human1name
15113733CV695561single nucleotide variantNM_001370298.3(FGD4):c.1953+7C>TCharcot-Marie-Tooth disease type 4 [RCV000872801]likely benign123262445932624459Human1name
21406339CV799678single nucleotide variantNM_001370298.3(FGD4):c.504-20C>GCharcot-Marie-Tooth disease type 4 [RCV003769387]|Charcot-Marie-Tooth disease type 4H [RCV001002524]likely benign123258194032581940Human2name
26905636CV851947single nucleotide variantNM_001370298.3(FGD4):c.1101+6A>TCharcot-Marie-Tooth disease type 4 [RCV001051387]uncertain significance123259859232598592Human1name
28891441CV859961single nucleotide variantNM_001370298.3(FGD4):c.1405-7A>Gnot provided [RCV001092391]uncertain significance123260795032607950Humanname
28911710CV872229single nucleotide variantNM_001370298.3(FGD4):c.1602+6T>CCharcot-Marie-Tooth disease type 4H [RCV001111044]uncertain significance123261084032610840Human1name
34890056CV905667single nucleotide variantNM_001370298.3(FGD4):c.1102-5T>ACharcot-Marie-Tooth disease [RCV001173487]|Charcot-Marie-Tooth disease type 4 [RCV002068085]|Inborn genetic diseases [RCV002375052]|not provided [RCV001664728]likely benign|uncertain significance123260127332601273Human3name
34890543CV905669single nucleotide variantNM_001370298.3(FGD4):c.1602+7G>ACharcot-Marie-Tooth disease [RCV001174092]|Charcot-Marie-Tooth disease type 4 [RCV001416114]|not specified [RCV004998675]likely benign123261084132610841Human2name
38499987CV960786single nucleotide variantNM_001370298.3(FGD4):c.1404+5T>CCharcot-Marie-Tooth disease type 4 [RCV001245374]|Charcot-Marie-Tooth disease type 4H [RCV003600406]likely benign|uncertain significance123260232232602322Human2name
150332966CV1172410single nucleotide variantNM_001370298.3(FGD4):c.503+279G>Anot provided [RCV001539251]likely benign123257672832576728Humanname
150335125CV1172413single nucleotide variantNM_001370298.3(FGD4):c.2172+59A>Gnot provided [RCV001540417]likely benign123262583832625838Humanname
150421079CV1198361single nucleotide variantNM_001370298.3(FGD4):c.504-286A>Gnot provided [RCV001577885]likely benign123258167432581674Humanname
150433373CV1203653single nucleotide variantNM_001370298.3(FGD4):c.1012-72G>Cnot provided [RCV001581809]likely benign123259842532598425Humanname
150495773CV1205900single nucleotide variantNM_001370298.3(FGD4):c.2173-46A>Gnot provided [RCV001593582]likely benign123263350332633503Humanname
150508858CV1214151single nucleotide variantNM_001370298.3(FGD4):c.2046+48G>Anot provided [RCV001596672]likely benign123262511632625116Humanname
150509837CV1228806single nucleotide variantNM_001370298.3(FGD4):c.2454+67G>Anot provided [RCV001636591]benign123263886232638862Humanname
150458771CV1235984single nucleotide variantNM_001370298.3(FGD4):c.1012-67G>Anot provided [RCV001648954]benign123259843032598430Humanname
150508234CV1244779single nucleotide variantNM_001370298.3(FGD4):c.1101+44A>Gnot provided [RCV001659028]likely benign123259863032598630Humanname
150436035CV1252589single nucleotide variantNM_001370298.3(FGD4):c.2046+37A>GCharcot-Marie-Tooth disease type 4H [RCV001702232]|not provided [RCV001669912]benign123262510532625105Human1name
150492019CV1280775single nucleotide variantNM_001370298.3(FGD4):c.2313+77G>Anot provided [RCV001716737]benign123263376632633766Humanname
150485585CV1280784single nucleotide variantNM_001370298.3(FGD4):c.1544-42G>Anot provided [RCV001715622]benign123261073432610734Humanname
150485587CV1280785single nucleotide variantNM_001370298.3(FGD4):c.1954-21T>Gnot provided [RCV001715623]benign123262495532624955Humanname
150485597CV1280787single nucleotide variantNM_001370298.3(FGD4):c.2172+29T>Gnot provided [RCV001715625]benign123262580832625808Humanname
150495749CV1283052single nucleotide variantNM_001370298.3(FGD4):c.167-226G>Anot provided [RCV001717454]benign123256391132563911Humanname
150495757CV1283054single nucleotide variantNM_001370298.3(FGD4):c.1011+89G>Tnot provided [RCV001717456]benign123258255632582556Humanname
150496286CV1283234single nucleotide variantNM_001370298.3(FGD4):c.504-181G>Anot provided [RCV001717591]benign123258177932581779Humanname
150504862CV1286042duplicationNM_001370298.3(FGD4):c.1953+41dupnot provided [RCV001719465]benign123262448232624483Humanname
150443733CV1287923single nucleotide variantNM_001370298.3(FGD4):c.504-145G>Anot provided [RCV001725645]benign123258181532581815Humanname
152155693CV1520350single nucleotide variantNM_001370298.3(FGD4):c.1011+13A>GCharcot-Marie-Tooth disease type 4 [RCV002140134]likely benign123258248032582480Human1name
152158907CV1521769single nucleotide variantNM_001370298.3(FGD4):c.1101+14T>CCharcot-Marie-Tooth disease type 4 [RCV002180571]likely benign123259860032598600Human1name
152142992CV1526765single nucleotide variantNM_001370298.3(FGD4):c.1101+15C>ACharcot-Marie-Tooth disease type 4 [RCV002084410]likely benign123259860132598601Human1name
152094313CV1533673single nucleotide variantNM_001370298.3(FGD4):c.1953+20C>TCharcot-Marie-Tooth disease type 4 [RCV002094628]likely benign123262447232624472Human1name
152090052CV1535832deletionNM_001370298.3(FGD4):c.1543+17delCharcot-Marie-Tooth disease type 4 [RCV002150474]likely benign123260810432608104Human1name
152148381CV1568999duplicationNM_001370298.3(FGD4):c.1543+17dupCharcot-Marie-Tooth disease type 4 [RCV002220405]|Charcot-Marie-Tooth disease type 4H [RCV003600423]benign|likely benign123260810332608104Human2name
152162235CV1584760single nucleotide variantNM_001370298.3(FGD4):c.2454+19T>ACharcot-Marie-Tooth disease type 4 [RCV002123411]likely benign123263881432638814Human1name
152141968CV1587470single nucleotide variantNM_001370298.3(FGD4):c.1602+14G>ACharcot-Marie-Tooth disease type 4 [RCV002138290]likely benign123261084832610848Human1name
152171865CV1597856single nucleotide variantNM_001370298.3(FGD4):c.1749+18G>CCharcot-Marie-Tooth disease type 4 [RCV002162261]likely benign123261130132611301Human1name
152048703CV1615028single nucleotide variantNM_001370298.3(FGD4):c.2046+18C>ACharcot-Marie-Tooth disease type 4 [RCV002088867]likely benign123262508632625086Human1name
152113521CV1623901single nucleotide variantNM_001370298.3(FGD4):c.2046+15A>GCharcot-Marie-Tooth disease type 4 [RCV002134793]likely benign123262508332625083Human1name
152085469CV1633496single nucleotide variantNM_001370298.3(FGD4):c.2173-20A>CCharcot-Marie-Tooth disease type 4 [RCV002113325]likely benign123263352932633529Human1name
152074678CV1635288single nucleotide variantNM_001370298.3(FGD4):c.1102-10T>GCharcot-Marie-Tooth disease type 4 [RCV002092063]likely benign123260126832601268Human1name
152114828CV1637073single nucleotide variantNM_001370298.3(FGD4):c.1749+13G>ACharcot-Marie-Tooth disease type 4 [RCV002215984]likely benign123261129632611296Human1name
152172925CV1652796single nucleotide variantNM_001370298.3(FGD4):c.1248-17T>CCharcot-Marie-Tooth disease type 4 [RCV002143938]likely benign123260214432602144Human1name
152067250CV1660073single nucleotide variantNM_001370298.3(FGD4):c.1012-19A>CCharcot-Marie-Tooth disease type 4 [RCV002147595]likely benign123259847832598478Human1name
152165862CV1661042single nucleotide variantNM_001370298.3(FGD4):c.1749+11T>CCharcot-Marie-Tooth disease type 4 [RCV002124105]likely benign123261129432611294Human1name
152151911CV1664388single nucleotide variantNM_001370298.3(FGD4):c.2313+11T>CCharcot-Marie-Tooth disease type 4 [RCV002158319]likely benign123263370032633700Human1name
156060685CV1876321single nucleotide variantNM_001370298.3(FGD4):c.2314-18T>GCharcot-Marie-Tooth disease type 4 [RCV003053331]likely benign123263863732638637Human1name
156021993CV1882406single nucleotide variantNM_001370298.3(FGD4):c.1750-11G>ACharcot-Marie-Tooth disease type 4 [RCV003077666]likely benign123261968732619687Human1name
156075259CV1890147single nucleotide variantNM_001370298.3(FGD4):c.2172+18A>GCharcot-Marie-Tooth disease type 4 [RCV003079680]likely benign123262579732625797Human1name
156435554CV1947447single nucleotide variantNM_001370298.3(FGD4):c.1012-19A>GCharcot-Marie-Tooth disease type 4 [RCV003106977]likely benign123259847832598478Human1name
155977434CV2085387single nucleotide variantNM_001370298.3(FGD4):c.2172+11T>CCharcot-Marie-Tooth disease type 4 [RCV002863601]likely benign123262579032625790Human1name
155910648CV2088469single nucleotide variantNM_001370298.3(FGD4):c.2173-19T>CCharcot-Marie-Tooth disease type 4 [RCV002858461]likely benign123263353032633530Human1name
156392334CV2123438deletionNM_001370298.3(FGD4):c.1543+18delCharcot-Marie-Tooth disease type 4 [RCV002944034]likely benign123260811332608113Human1name
156038968CV2143351single nucleotide variantNM_001370298.3(FGD4):c.1248-19T>GCharcot-Marie-Tooth disease type 4 [RCV002999443]likely benign123260214232602142Human1name
155954771CV2143898single nucleotide variantNM_001370298.3(FGD4):c.1012-11C>GCharcot-Marie-Tooth disease type 4 [RCV002994832]likely benign123259848632598486Human1name
11059910CV226827single nucleotide variantNM_001370298.3(FGD4):c.1247+10G>TCharcot-Marie-Tooth disease [RCV001174113]|Charcot-Marie-Tooth disease type 4 [RCV000210498]|Charcot-Marie-Tooth disease type 4H [RCV001000351]|not provided [RCV000711635]benign|conflicting interpretations of pathogenicity|uncertain significance123260143332601433Human3name
405070971CV2884969deletionNM_001370298.3(FGD4):c.1544-17delCharcot-Marie-Tooth disease type 4 [RCV003581119]likely benign123261075932610759Human1name
405136512CV2890140single nucleotide variantNM_001370298.3(FGD4):c.1012-12T>CCharcot-Marie-Tooth disease type 4 [RCV003583584]likely benign123259848532598485Human1name
405075650CV2898386single nucleotide variantNM_001370298.3(FGD4):c.1922+10C>TCharcot-Marie-Tooth disease type 4 [RCV003581430]likely benign123261988032619880Human1name
405080272CV3045648single nucleotide variantNM_001370298.3(FGD4):c.1404+20C>TCharcot-Marie-Tooth disease type 4 [RCV003743499]likely benign123260233732602337Human1name
405089136CV3064164single nucleotide variantNM_001370298.3(FGD4):c.1749+15G>ACharcot-Marie-Tooth disease type 4 [RCV003745054]likely benign123261129832611298Human1name
405093280CV3077146single nucleotide variantNM_001370298.3(FGD4):c.1102-20T>CCharcot-Marie-Tooth disease type 4 [RCV003745246]likely benign123260125832601258Human1name
405122473CV3131696single nucleotide variantNM_001370298.3(FGD4):c.1248-11A>GCharcot-Marie-Tooth disease type 4 [RCV003837560]likely benign123260215032602150Human1name
11612243CV316842single nucleotide variantNM_001370298.3(FGD4):c.1750-12C>TCharcot-Marie-Tooth disease [RCV001174107]|Charcot-Marie-Tooth disease type 4 [RCV001521284]|Charcot-Marie-Tooth disease type 4H [RCV000405789]|not provided [RCV001612976]benign|likely benign123261968632619686Human3name
404985851CV3183819single nucleotide variantNM_001370298.3(FGD4):c.1544-19T>GCharcot-Marie-Tooth disease type 4 [RCV003881096]likely benign123261075732610757Human1name
11612901CV330562microsatelliteNM_001370298.3(FGD4):c.*3113TA[6]Charcot-Marie-Tooth disease type 4 [RCV000263487]uncertain significance123264364432643645Humanname
11623894CV331864single nucleotide variantNM_001370298.3(FGD4):c.1543+13T>CCharcot-Marie-Tooth disease type 4 [RCV002056289]|Charcot-Marie-Tooth disease type 4H [RCV000378611]likely benign|uncertain significance123260810832608108Human2name
11654580CV331919microsatelliteNM_001370298.3(FGD4):c.*3113TA[4]Charcot-Marie-Tooth disease type 4 [RCV000318721]uncertain significance123264364532643646Humanname
12844298CV375049single nucleotide variantNM_001370298.3(FGD4):c.1602+13C>TCharcot-Marie-Tooth disease type 4 [RCV001861604]|not specified [RCV000437753]likely benign123261084732610847Human1name
597869303CV3835147single nucleotide variantNM_001370298.3(FGD4):c.1247+15T>CCharcot-Marie-Tooth disease type 4 [RCV005176323]likely benign123260143832601438Human1name
12900078CV408629duplicationNM_001370298.3(FGD4):c.1248-16dupCharcot-Marie-Tooth disease [RCV001174095]|not provided [RCV001712441]likely benign123260214032602141Human1name
13536058CV503834single nucleotide variantNM_001370298.3(FGD4):c.1404+10C>TCharcot-Marie-Tooth disease type 4 [RCV001401810]|not specified [RCV000608455]likely benign123260232732602327Human1name
14723875CV666448single nucleotide variantNM_001370298.3(FGD4):c.320-339A>Gnot provided [RCV000832730]likely benign123257592732575927Humanname
14716148CV666454single nucleotide variantNM_001370298.3(FGD4):c.1248-37T>ACharcot-Marie-Tooth disease type 4H [RCV001702564]|not provided [RCV000829632]benign123260212432602124Human1name
14716244CV666457single nucleotide variantNM_001370298.3(FGD4):c.2173-23T>Gnot provided [RCV000829663]likely benign123263352632633526Humanname
14724247CV666581single nucleotide variantNM_001370298.3(FGD4):c.2455-46A>Gnot provided [RCV000832898]benign123264023032640230Humanname
15117246CV695562single nucleotide variantNM_001370298.3(FGD4):c.2046+10A>GCharcot-Marie-Tooth disease type 4 [RCV000873465]likely benign123262507832625078Human1name
15172198CV775971single nucleotide variantNM_001370298.3(FGD4):c.2455-10T>CCharcot-Marie-Tooth disease type 4 [RCV001455591]likely benign123264026632640266Human1name
28872125CV872230single nucleotide variantNM_001370298.3(FGD4):c.2172+12T>GCharcot-Marie-Tooth disease type 4 [RCV002069843]|Charcot-Marie-Tooth disease type 4H [RCV001114407]likely benign|uncertain significance123262579132625791Human2name
34890548CV905668single nucleotide variantNM_001370298.3(FGD4):c.1248-13A>GCharcot-Marie-Tooth disease [RCV001174097]|Charcot-Marie-Tooth disease type 4 [RCV002067860]likely benign123260214832602148Human2name
34890553CV905670single nucleotide variantNM_001370298.3(FGD4):c.1922+11C>TCharcot-Marie-Tooth disease [RCV001174101]|Charcot-Marie-Tooth disease type 4 [RCV002068111]likely benign123261988132619881Human2name
150338848CV1167554single nucleotide variantNM_001370298.3(FGD4):c.2047-138T>Cnot provided [RCV001533790]benign123262551632625516Humanname
150337299CV1172411single nucleotide variantNM_001370298.3(FGD4):c.1923-163G>Anot provided [RCV001541552]likely benign123262425932624259Humanname
150405640CV1177597single nucleotide variantNM_001370298.3(FGD4):c.1012-243G>Anot provided [RCV001544949]likely benign123259825432598254Humanname
150404841CV1177598single nucleotide variantNM_001370298.3(FGD4):c.1750-158G>Tnot provided [RCV001544597]likely benign123261954032619540Humanname
150410710CV1177599single nucleotide variantNM_001370298.3(FGD4):c.1922+249A>Cnot provided [RCV001546789]likely benign123262011932620119Humanname
150422968CV1180991single nucleotide variantNM_001370298.3(FGD4):c.1011+319T>Anot provided [RCV001553370]likely benign123258278632582786Humanname
150423286CV1184685single nucleotide variantNM_001370298.3(FGD4):c.1101+231G>Anot provided [RCV001555115]likely benign123259881732598817Humanname
150423371CV1184686single nucleotide variantNM_001370298.3(FGD4):c.1544-207G>Tnot provided [RCV001555225]likely benign123261056932610569Humanname
150425716CV1184687single nucleotide variantNM_001370298.3(FGD4):c.2314-311A>Gnot provided [RCV001558380]likely benign123263834432638344Humanname
150495577CV1205041single nucleotide variantNM_001370298.3(FGD4):c.2047-104C>Gnot provided [RCV001593533]likely benign123262555032625550Humanname
150431210CV1206273single nucleotide variantNM_001370298.3(FGD4):c.2046+205T>Anot provided [RCV001580922]likely benign123262527332625273Humanname
150470757CV1209389single nucleotide variantNM_001370298.3(FGD4):c.1247+320G>Cnot provided [RCV001588500]likely benign123260174332601743Humanname
150491488CV1210373single nucleotide variantNM_001370298.3(FGD4):c.1923-321T>Anot provided [RCV001592655]likely benign123262410132624101Humanname
150512254CV1212953single nucleotide variantNM_001370298.3(FGD4):c.2314-252A>Gnot provided [RCV001598185]benign123263840332638403Humanname
150485026CV1222618single nucleotide variantNM_001370298.3(FGD4):c.2046+287C>Tnot provided [RCV001617621]benign123262535532625355Humanname
150517076CV1227813single nucleotide variantNM_001370298.3(FGD4):c.1101+180A>Gnot provided [RCV001639616]benign123259876632598766Humanname
150516387CV1228331single nucleotide variantNM_001370298.3(FGD4):c.1750-123T>Cnot provided [RCV001639137]benign123261957532619575Humanname
150510964CV1229309deletionNM_001370298.3(FGD4):c.2046+221delnot provided [RCV001637237]benign123262527032625270Humanname
150443243CV1232553single nucleotide variantNM_001370298.3(FGD4):c.1012-262G>Tnot provided [RCV001645521]benign123259823532598235Humanname
150462757CV1234959single nucleotide variantNM_001370298.3(FGD4):c.2313+246G>Anot provided [RCV001649541]benign123263393532633935Humanname
150489452CV1236369single nucleotide variantNM_001370298.3(FGD4):c.2455-227A>Cnot provided [RCV001654510]benign123264004932640049Humanname
150437717CV1237915single nucleotide variantNM_001370298.3(FGD4):c.1922+202A>Gnot provided [RCV001644413]benign123262007232620072Humanname
150442358CV1246881duplicationNM_001370298.3(FGD4):c.2046+221dupnot provided [RCV001666535]benign123262526932625270Humanname
150438124CV1247129single nucleotide variantNM_001370298.3(FGD4):c.2314-129C>Tnot provided [RCV001665898]benign123263852632638526Humanname
150476219CV1251829single nucleotide variantNM_001370298.3(FGD4):c.2173-171G>Cnot provided [RCV001672027]benign123263337832633378Humanname
150451193CV1261513single nucleotide variantNM_001370298.3(FGD4):c.2047-125G>Anot provided [RCV001680715]benign123262552932625529Humanname
150494208CV1267306single nucleotide variantNM_001370298.3(FGD4):c.2313+123T>Cnot provided [RCV001688334]benign123263381232633812Humanname
150444938CV1269355single nucleotide variantNM_001370298.3(FGD4):c.2172+117G>Tnot provided [RCV001691042]benign123262589632625896Humanname
150467512CV1277583single nucleotide variantNM_001370298.3(FGD4):c.1247+305C>Gnot provided [RCV001710878]benign123260172832601728Humanname
150485553CV1280773single nucleotide variantNM_001370298.3(FGD4):c.1248-177G>Anot provided [RCV001715615]benign123260198432601984Humanname
150485560CV1280774single nucleotide variantNM_001370298.3(FGD4):c.1750-142C>Tnot provided [RCV001715616]benign123261955632619556Humanname
150485592CV1280786single nucleotide variantNM_001370298.3(FGD4):c.1954-144G>Anot provided [RCV001715624]benign123262483232624832Humanname
150496281CV1283228single nucleotide variantNM_001370298.3(FGD4):c.1922+215C>Anot provided [RCV001717589]benign123262008532620085Humanname
150503943CV1285858single nucleotide variantNM_001370298.3(FGD4):c.1749+206A>Tnot provided [RCV001719281]benign123261148932611489Humanname
150503954CV1285860single nucleotide variantNM_001370298.3(FGD4):c.1544-152T>Anot provided [RCV001719283]benign123261062432610624Humanname
150530035CV1291177single nucleotide variantNM_001370298.3(FGD4):c.1922+141A>Tnot provided [RCV001732702]likely benign123262001132620011Humanname
407427147CV3410484single nucleotide variantNM_001370298.3(FGD4):c.1953+259C>Tnot specified [RCV004586131]likely benign123262471132624711Humanname
408367305CV3509689single nucleotide variantNM_001370298.3(FGD4):c.2454+125A>GFGD4-related disorder [RCV004758347]likely benign123263892032638920Humanname , trait , alternate_id
14739505CV665781single nucleotide variantNM_001370298.3(FGD4):c.1749+200A>Cnot provided [RCV000839903]benign123261148332611483Humanname
14739522CV665784single nucleotide variantNM_001370298.3(FGD4):c.2455-236G>Anot provided [RCV000839911]benign123264004032640040Humanname
14737700CV666453single nucleotide variantNM_001370298.3(FGD4):c.1012-154T>Gnot provided [RCV000839041]likely benign123259834332598343Humanname
14739499CV666566single nucleotide variantNM_001370298.3(FGD4):c.1544-236T>Gnot provided [RCV000839901]benign123261054032610540Humanname
14739502CV666572single nucleotide variantNM_001370298.3(FGD4):c.1544-135G>Anot provided [RCV000839902]benign123261064132610641Humanname
14708465CV666577deletionNM_001370298.3(FGD4):c.2173-322delnot provided [RCV000826917]benign123263322332633223Humanname
14716144CV666803single nucleotide variantNM_001370298.3(FGD4):c.1248-149T>Gnot provided [RCV000829631]benign123260201232602012Humanname
14716242CV666808single nucleotide variantNM_001370298.3(FGD4):c.1404+149T>Cnot provided [RCV000829662]benign123260246632602466Humanname
14721041CV666809single nucleotide variantNM_001370298.3(FGD4):c.2046+221T>Anot provided [RCV000831499]likely benign123262528932625289Humanname
14710404CV666815single nucleotide variantNM_001370298.3(FGD4):c.2047-292C>Tnot provided [RCV000827692]benign123262536232625362Humanname
14739506CV666819single nucleotide variantNM_001370298.3(FGD4):c.2172+200G>Anot provided [RCV000839904]benign123262597932625979Humanname
14707710CV666822single nucleotide variantNM_001370298.3(FGD4):c.2173-257C>Tnot provided [RCV000826919]benign123263329232633292Humanname
150488568CV1274651single nucleotide variantNM_001370298.3(FGD4):c.167-29719A>GFGD4-related disorder [RCV003921349]|not provided [RCV004707678]|not specified [RCV001699889]benign123253441832534418Human1name , trait , alternate_id
11611298CV316809single nucleotide variantNM_001370298.3(FGD4):c.167-61974A>CCharcot-Marie-Tooth disease type 4H [RCV000392815]uncertain significance123250216332502163Human1name
11601462CV316813single nucleotide variantNM_001370298.3(FGD4):c.167-61923G>ACharcot-Marie-Tooth disease type 4H [RCV000282326]|not provided [RCV004693099]uncertain significance123250221432502214Human1name
11612210CV316815single nucleotide variantNM_001370298.3(FGD4):c.167-61799G>CCharcot-Marie-Tooth disease type 4H [RCV000405222]|not provided [RCV001712019]benign|likely benign123250233832502338Human1name
11603939CV316816single nucleotide variantNM_001370298.3(FGD4):c.167-61790C>TCharcot-Marie-Tooth disease type 4H [RCV000304485]|not provided [RCV001718627]likely benign|uncertain significance123250234732502347Human1name
11620682CV324395single nucleotide variantNM_001370298.3(FGD4):c.167-61842A>GCharcot-Marie-Tooth disease type 4H [RCV000339623]uncertain significance123250229532502295Human1name
11647908CV330469single nucleotide variantNM_001370298.3(FGD4):c.167-62000T>CCharcot-Marie-Tooth disease type 4H [RCV000278905]uncertain significance123250213732502137Human1name
11620403CV331848single nucleotide variantNM_001370298.3(FGD4):c.167-61986C>TCharcot-Marie-Tooth disease type 4H [RCV000336355]|not provided [RCV001683240]benign|likely benign123250215132502151Human1name
11667028CV353221single nucleotide variantNM_001370298.3(FGD4):c.167-62037C>ACharcot-Marie-Tooth disease type 4 [RCV000407557]likely benign123250210032502100Human1name
598205295CV3896811single nucleotide variantNM_001370298.3(FGD4):c.167-29682T>ACharcot-Marie-Tooth disease [RCV005356989]uncertain significance123253445532534455Human1name
13827614CV578499deletionNM_001370298.3(FGD4):c.167-77996delCharcot-Marie-Tooth disease type 4H [RCV000714783]uncertain significance123248613632486136Human1name
21074245CV796754single nucleotide variantNM_001370298.3(FGD4):c.167-29728T>CCharcot-Marie-Tooth disease [RCV005359731]|not provided [RCV000994884]uncertain significance123253440932534409Human1name
28911677CV869676single nucleotide variantNM_001370298.3(FGD4):c.167-62008C>ACharcot-Marie-Tooth disease type 4H [RCV001110947]uncertain significance123250212932502129Human1name
28911655CV869677single nucleotide variantNM_001370298.3(FGD4):c.167-62001C>GCharcot-Marie-Tooth disease type 4H [RCV001110948]uncertain significance123250213632502136Human1name
28911656CV869678single nucleotide variantNM_001370298.3(FGD4):c.167-61986C>GCharcot-Marie-Tooth disease type 4H [RCV001110949]uncertain significance123250215132502151Human1name
150489980CV1250948microsatelliteNM_001370298.3(FGD4):c.504-285AAAT[2]not provided [RCV001674615]benign123258167532581678Humanname
11624806CV330561deletionNM_001370298.3(FGD4):c.*2928_*2931delCharcot-Marie-Tooth disease type 4 [RCV000390748]benign123264346032643463Human1name
11664470CV331957deletionNM_001370298.3(FGD4):c.*3894_*3895delCharcot-Marie-Tooth disease type 4 [RCV000405873]uncertain significance123264442632644427Human1name
8634642CV89862single nucleotide variantNM_139241.3(FGD4):c.15A>C (p.Lys5Asn)Malignant melanoma [RCV000069959]not provided123257637232576372Humanname
127309595CV1122574microsatelliteNM_001370298.3(FGD4):c.1923-6_1923-2delCharcot-Marie-Tooth disease type 4 [RCV001456354]likely benign123262441132624415Humanname
617152103CV4018296single nucleotide variantNM_001370298.3(FGD4):c.165A>G (p.Thr55=)not specified [RCV005418556]uncertain significance123239995832399958Humanname
15108800CV695560insertionNM_001370298.3(FGD4):c.1543+8_1543+9insGCharcot-Marie-Tooth disease type 4 [RCV001436251]likely benign123260810332608104Human1name
127281805CV1101120single nucleotide variantNM_001370298.3(FGD4):c.441T>C (p.Ser147=)Charcot-Marie-Tooth disease type 4 [RCV001447380]likely benign123257638732576387Human1name
127251976CV1101121single nucleotide variantNM_001370298.3(FGD4):c.999C>T (p.His333=)Charcot-Marie-Tooth disease type 4 [RCV001436661]likely benign123258245532582455Human1name
127310782CV1143432single nucleotide variantNM_001370298.3(FGD4):c.624G>A (p.Leu208=)Charcot-Marie-Tooth disease type 4 [RCV001481229]|not provided [RCV004706202]likely benign123258208032582080Human1name
127309605CV1143433single nucleotide variantNM_001370298.3(FGD4):c.945A>G (p.Val315=)Charcot-Marie-Tooth disease type 4 [RCV001480916]likely benign123258240132582401Human1name
150336751CV1172412duplicationNM_001370298.3(FGD4):c.1953+40_1953+41dupnot provided [RCV001541163]benign123262448232624483Humanname
150463134CV1253761microsatelliteNM_001370298.3(FGD4):c.167-111_167-106delnot provided [RCV001669803]benign123256401532564020Humanname
152160481CV1530785single nucleotide variantNM_001370298.3(FGD4):c.417G>A (p.Glu139=)Charcot-Marie-Tooth disease type 4 [RCV002123097]likely benign123257636332576363Human1name
152119001CV1558330single nucleotide variantNM_001370298.3(FGD4):c.786G>A (p.Thr262=)Charcot-Marie-Tooth disease type 4 [RCV002135464]likely benign123258224232582242Human1name
152151962CV1572409single nucleotide variantNM_001370298.3(FGD4):c.546G>A (p.Val182=)Charcot-Marie-Tooth disease type 4 [RCV002139654]likely benign123258200232582002Human1name
152133149CV1588352single nucleotide variantNM_001370298.3(FGD4):c.831A>C (p.Ala277=)Charcot-Marie-Tooth disease type 4 [RCV002199591]likely benign123258228732582287Human1name
152043007CV1619751single nucleotide variantNM_001370298.3(FGD4):c.720G>A (p.Glu240=)Charcot-Marie-Tooth disease type 4 [RCV002188505]likely benign123258217632582176Human1name
152040650CV1624762single nucleotide variantNM_001370298.3(FGD4):c.696A>C (p.Ala232=)Charcot-Marie-Tooth disease type 4 [RCV002165638]likely benign123258215232582152Human1name
155698733CV1856809single nucleotide variantNM_001370298.3(FGD4):c.501C>T (p.Gly167=)not provided [RCV002444364]not provided123257644732576447Humanname
156383081CV1870509single nucleotide variantNM_001370298.3(FGD4):c.621C>T (p.His207=)Charcot-Marie-Tooth disease type 4 [RCV003067335]likely benign123258207732582077Human1name
156411971CV1894113single nucleotide variantNM_001370298.3(FGD4):c.840A>C (p.Thr280=)Charcot-Marie-Tooth disease type 4 [RCV003072702]likely benign123258229632582296Human1name
156140421CV1921767single nucleotide variantNM_001370298.3(FGD4):c.831A>G (p.Ala277=)Charcot-Marie-Tooth disease type 4 [RCV002623639]likely benign123258228732582287Human1name
156244139CV1956859single nucleotide variantNM_001370298.3(FGD4):c.510A>G (p.Leu170=)Charcot-Marie-Tooth disease type 4 [RCV002576322]likely benign123258196632581966Human1name
156235156CV2021558single nucleotide variantNM_001370298.3(FGD4):c.609C>A (p.Leu203=)Charcot-Marie-Tooth disease type 4 [RCV002745459]likely benign123258206532582065Human1name
156327063CV2068698single nucleotide variantNM_001370298.3(FGD4):c.600A>G (p.Gln200=)Charcot-Marie-Tooth disease type 4 [RCV002835078]likely benign123258205632582056Human1name
10408823CV213504single nucleotide variantNM_001370298.3(FGD4):c.666A>T (p.Ala222=)Charcot-Marie-Tooth disease [RCV001173488]|Charcot-Marie-Tooth disease type 4 [RCV000199755]|Charcot-Marie-Tooth disease type 4H [RCV000999867]|Inborn genetic diseases [RCV002426945]|not provided [RCV001311295]|not specified [RCV000287175]likely benign|conflicting interpretations of pathogenicity|uncertain significance123258212232582122Human4name
155998250CV2153002single nucleotide variantNM_001370298.3(FGD4):c.798T>C (p.Asn266=)Charcot-Marie-Tooth disease type 4 [RCV002996893]likely benign123258225432582254Human1name
405136071CV2905929single nucleotide variantNM_001370298.3(FGD4):c.996G>A (p.Gln332=)Charcot-Marie-Tooth disease type 4 [RCV003583653]likely benign123258245232582452Human1name
405078702CV3038412single nucleotide variantNM_001370298.3(FGD4):c.888A>G (p.Pro296=)Charcot-Marie-Tooth disease type 4 [RCV003743336]likely benign123258234432582344Human1name
405089210CV3057631single nucleotide variantNM_001370298.3(FGD4):c.435T>A (p.Ser145=)Charcot-Marie-Tooth disease type 4 [RCV003745059]likely benign123257638132576381Human1name
404990013CV3131958single nucleotide variantNM_001370298.3(FGD4):c.867T>C (p.Ser289=)Charcot-Marie-Tooth disease type 4 [RCV003827087]likely benign123258232332582323Human1name
405043923CV3154108single nucleotide variantNM_001370298.3(FGD4):c.675T>C (p.Cys225=)Charcot-Marie-Tooth disease type 4 [RCV003848976]likely benign123258213132582131Human1name
11623118CV331861single nucleotide variantNM_001370298.3(FGD4):c.846C>T (p.Asp282=)Charcot-Marie-Tooth disease [RCV001174106]|Charcot-Marie-Tooth disease type 4 [RCV000368855]|Charcot-Marie-Tooth disease type 4H [RCV001094215]|not provided [RCV001706466]|not specified [RCV000517248]benign123258230232582302Human3name
596948388CV3549470single nucleotide variantNM_001370298.3(FGD4):c.805A>C (p.Arg269=)not provided [RCV004812291]likely benign123258226132582261Humanname
597859562CV3744659single nucleotide variantNM_001370298.3(FGD4):c.519T>C (p.Tyr173=)Charcot-Marie-Tooth disease type 4 [RCV005067204]likely benign123258197532581975Human1name
597960750CV3840310single nucleotide variantNM_001370298.3(FGD4):c.636G>A (p.Gln212=)Charcot-Marie-Tooth disease type 4 [RCV005192794]likely benign123258209232582092Human1name
597945562CV3844881single nucleotide variantNM_001370298.3(FGD4):c.942G>A (p.Lys314=)Charcot-Marie-Tooth disease type 4 [RCV005188867]likely benign123258239832582398Human1name
597860107CV3850395single nucleotide variantNM_001370298.3(FGD4):c.540T>A (p.Ser180=)Charcot-Marie-Tooth disease type 4 [RCV005195728]likely benign123258199632581996Human1name
598209958CV4007948single nucleotide variantNM_001370298.3(FGD4):c.318A>G (p.Gln106=)Charcot-Marie-Tooth disease type 4H [RCV005400262]uncertain significance123256428832564288Human1name
598210005CV4007954single nucleotide variantNM_001370298.3(FGD4):c.47G>T (p.Arg16Leu)Charcot-Marie-Tooth disease type 4H [RCV005400268]uncertain significance123239984032399840Human1name
13625932CV527140single nucleotide variantNM_001370298.3(FGD4):c.603A>G (p.Gln201=)Charcot-Marie-Tooth disease type 4 [RCV000654149]|FGD4-related disorder [RCV003945682]|Inborn genetic diseases [RCV002406478]likely benign|uncertain significance123258205932582059Human3name , trait , alternate_id
13626031CV527342single nucleotide variantNM_001370298.3(FGD4):c.828T>A (p.Pro276=)Charcot-Marie-Tooth disease type 4 [RCV000654269]|Inborn genetic diseases [RCV002331275]likely benign123258228432582284Human2name
14742497CV656157single nucleotide variantNM_001370298.3(FGD4):c.378C>A (p.Pro126=)not provided [RCV000841434]likely benign123257632432576324Humanname
15109294CV693189single nucleotide variantNM_001370298.3(FGD4):c.612C>T (p.Leu204=)Charcot-Marie-Tooth disease [RCV001174093]|Charcot-Marie-Tooth disease type 4 [RCV000871870]likely benign123258206832582068Human2name
15142159CV753334single nucleotide variantNM_001370298.3(FGD4):c.468G>A (p.Lys156=)Charcot-Marie-Tooth disease type 4 [RCV001413112]likely benign123257641432576414Human1name
21072354CV791228single nucleotide variantNM_001370298.3(FGD4):c.42C>G (p.Ile14Met)Charcot-Marie-Tooth disease type 4H [RCV000988805]|not provided [RCV004709016]benign123239983532399835Human4name
21072354CV791228single nucleotide variantNM_001370298.3(FGD4):c.42C>G (p.Ile14Met)Charcot-Marie-Tooth disease type 4H [RCV000988805]|not provided [RCV004709016]benign123239983532399836Human4name
127268559CV1062601deletionNM_001370298.3(FGD4):c.616del (p.Gln206fs)Charcot-Marie-Tooth disease type 4 [RCV001389272]pathogenic123258207032582070Human1name
127243806CV1079375single nucleotide variantNM_001370298.3(FGD4):c.1113C>T (p.Cys371=)Charcot-Marie-Tooth disease type 4 [RCV001398470]likely benign123260128932601289Human1name
127275633CV1079376single nucleotide variantNM_001370298.3(FGD4):c.1440T>C (p.His480=)Charcot-Marie-Tooth disease type 4 [RCV001406793]likely benign123260799232607992Human1name
127279357CV1101122single nucleotide variantNM_001370298.3(FGD4):c.1488T>G (p.Leu496=)Charcot-Marie-Tooth disease type 4 [RCV001445703]likely benign123260804032608040Human1name
127274737CV1101123single nucleotide variantNM_001370298.3(FGD4):c.1755C>T (p.Asn585=)Charcot-Marie-Tooth disease type 4 [RCV001432054]likely benign123261970332619703Human1name
127282044CV1101124single nucleotide variantNM_001370298.3(FGD4):c.2262C>T (p.Ile754=)Charcot-Marie-Tooth disease type 4 [RCV001447586]likely benign123263363832633638Human1name
127256745CV1101125single nucleotide variantNM_001370298.3(FGD4):c.2436C>T (p.Tyr812=)Charcot-Marie-Tooth disease type 4 [RCV001426882]likely benign123263877732638777Human1name
127293443CV1122572single nucleotide variantNM_001370298.3(FGD4):c.1485C>T (p.Leu495=)Charcot-Marie-Tooth disease type 4 [RCV001451994]likely benign123260803732608037Human1name
127311076CV1122575single nucleotide variantNM_001370298.3(FGD4):c.2433G>A (p.Leu811=)Charcot-Marie-Tooth disease type 4 [RCV001456761]likely benign123263877432638774Human1name
127333883CV1122576single nucleotide variantNM_001370298.3(FGD4):c.2490C>T (p.Gly830=)Charcot-Marie-Tooth disease type 4 [RCV001473201]likely benign123264031132640311Human1name
127318359CV1122577single nucleotide variantNM_001370298.3(FGD4):c.2559C>T (p.Ser853=)Charcot-Marie-Tooth disease type 4 [RCV001466158]likely benign123264038032640380Human1name
127314245CV1143434single nucleotide variantNM_001370298.3(FGD4):c.1344A>G (p.Glu448=)Charcot-Marie-Tooth disease type 4 [RCV001482176]likely benign123260225732602257Human1name
127314214CV1143435single nucleotide variantNM_001370298.3(FGD4):c.2067A>G (p.Arg689=)Charcot-Marie-Tooth disease type 4 [RCV001502419]likely benign123262567432625674Human1name
127328868CV1143436single nucleotide variantNM_001370298.3(FGD4):c.2346G>T (p.Val782=)Charcot-Marie-Tooth disease type 4 [RCV001487029]likely benign123263868732638687Human1name
127301307CV1143437single nucleotide variantNM_001370298.3(FGD4):c.2652A>G (p.Pro884=)Charcot-Marie-Tooth disease type 4 [RCV001498787]likely benign123264047332640473Human1name
127331989CV1143438single nucleotide variantNM_001370298.3(FGD4):c.2685T>C (p.Pro895=)Charcot-Marie-Tooth disease type 4 [RCV001489185]likely benign123264050632640506Human1name
150487301CV1203440single nucleotide variantNM_001370298.3(FGD4):c.2308T>C (p.Leu770=)not provided [RCV001591618]likely benign123263368432633684Humanname
8691112CV141071single nucleotide variantNM_001370298.3(FGD4):c.1716G>A (p.Arg572=)Charcot-Marie-Tooth disease [RCV001174109]|Charcot-Marie-Tooth disease type 4 [RCV000343866]|Charcot-Marie-Tooth disease type 4H [RCV000600839]|not provided [RCV004708017]|not specified [RCV000125100]benign123261125032611250Human3name
8691113CV141072single nucleotide variantNM_001370298.3(FGD4):c.1929G>A (p.Ala643=)Charcot-Marie-Tooth disease [RCV001174110]|Charcot-Marie-Tooth disease type 4 [RCV000406085]|Charcot-Marie-Tooth disease type 4H [RCV000607923]|not provided [RCV004706571]|not specified [RCV000125101]benign123262442832624428Human3name
151731728CV1512180single nucleotide variantNM_001370298.3(FGD4):c.1071T>G (p.Ala357=)Charcot-Marie-Tooth disease type 4 [RCV002021367]likely benign|uncertain significance123259855632598556Human1name
152084761CV1525538single nucleotide variantNM_001370298.3(FGD4):c.2349G>A (p.Val783=)Charcot-Marie-Tooth disease type 4 [RCV002131286]likely benign123263869032638690Human1name
152106826CV1527439single nucleotide variantNM_001370298.3(FGD4):c.2481A>T (p.Pro827=)Charcot-Marie-Tooth disease type 4 [RCV002079717]likely benign123264030232640302Human1name
152134790CV1528187single nucleotide variantNM_001370298.3(FGD4):c.2472C>T (p.Ala824=)Charcot-Marie-Tooth disease type 4 [RCV002099967]likely benign123264029332640293Human1name
152084559CV1537602single nucleotide variantNM_001370298.3(FGD4):c.2130T>C (p.Asn710=)Charcot-Marie-Tooth disease type 4 [RCV002149752]likely benign123262573732625737Human1name
152089561CV1541606single nucleotide variantNM_001370298.3(FGD4):c.1338A>C (p.Ala446=)Charcot-Marie-Tooth disease type 4 [RCV002171646]likely benign123260225132602251Human1name
152084399CV1577037single nucleotide variantNM_001370298.3(FGD4):c.1470C>A (p.Pro490=)Charcot-Marie-Tooth disease type 4 [RCV002193438]likely benign123260802232608022Human1name
152071268CV1591558single nucleotide variantNM_001370298.3(FGD4):c.1413A>G (p.Lys471=)Charcot-Marie-Tooth disease type 4 [RCV002210010]likely benign123260796532607965Human1name
152170825CV1592597single nucleotide variantNM_001370298.3(FGD4):c.2562G>T (p.Val854=)Charcot-Marie-Tooth disease type 4 [RCV002161899]likely benign123264038332640383Human1name
152078132CV1602056single nucleotide variantNM_001370298.3(FGD4):c.1906C>T (p.Leu636=)Charcot-Marie-Tooth disease type 4 [RCV002148961]likely benign123261985432619854Human1name
152098068CV1611646single nucleotide variantNM_001370298.3(FGD4):c.2475C>T (p.Thr825=)Charcot-Marie-Tooth disease type 4 [RCV002172734]likely benign123264029632640296Human1name
152066497CV1620198single nucleotide variantNM_001370298.3(FGD4):c.2220T>C (p.Asp740=)Charcot-Marie-Tooth disease type 4 [RCV002209416]likely benign123263359632633596Human1name
152143388CV1651474single nucleotide variantNM_001370298.3(FGD4):c.1929G>T (p.Ala643=)Charcot-Marie-Tooth disease type 4 [RCV002138457]likely benign123262442832624428Human1name
152172711CV1652666single nucleotide variantNM_001370298.3(FGD4):c.2055G>A (p.Glu685=)Charcot-Marie-Tooth disease type 4 [RCV002143868]likely benign123262566232625662Human1name
156050293CV1867671single nucleotide variantNM_001370298.3(FGD4):c.2313G>A (p.Glu771=)not provided [RCV002510143]uncertain significance123263368932633689Humanname
155964120CV1881939single nucleotide variantNM_001370298.3(FGD4):c.1548A>G (p.Ser516=)Charcot-Marie-Tooth disease type 4 [RCV003074841]likely benign123261078032610780Human1name
10047853CV191443single nucleotide variantNM_001370298.3(FGD4):c.1971C>T (p.Ile657=)Charcot-Marie-Tooth disease [RCV001174111]|Charcot-Marie-Tooth disease type 4 [RCV000205200]|Charcot-Marie-Tooth disease type 4H [RCV001094178]|FGD4-related disorder [RCV003907561]|Inborn genetic diseases [RCV002399629]|not provided [RCV001311297]|not specified benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance123262499332624993Human4name , trait , alternate_id
10047906CV191601single nucleotide variantNM_001370298.3(FGD4):c.2070C>G (p.Ala690=)Charcot-Marie-Tooth disease [RCV001174105]|Charcot-Marie-Tooth disease type 4 [RCV000462267]|Charcot-Marie-Tooth disease type 4H [RCV001094180]|FGD4-related disorder [RCV004757971]|Inborn genetic diseases [RCV002390425]|not provided [RCV001711348]|not specified benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance123262567732625677Human4name , trait , alternate_id
156410705CV1929048single nucleotide variantNM_001370298.3(FGD4):c.1788C>T (p.Ser596=)Charcot-Marie-Tooth disease type 4 [RCV002607954]likely benign123261973632619736Human1name
156312910CV1931191single nucleotide variantNM_001370298.3(FGD4):c.1077C>T (p.Val359=)Charcot-Marie-Tooth disease type 4 [RCV002629883]likely benign123259856232598562Human1name
156067200CV2018392single nucleotide variantNM_001370298.3(FGD4):c.1545A>G (p.Lys515=)Charcot-Marie-Tooth disease type 4 [RCV002705568]likely benign123261077732610777Human1name
156233095CV2021279single nucleotide variantNM_001370298.3(FGD4):c.1866A>G (p.Glu622=)Charcot-Marie-Tooth disease type 4 [RCV002745381]likely benign123261981432619814Human1name
156274869CV2023424single nucleotide variantNM_001370298.3(FGD4):c.1893G>A (p.Gly631=)Charcot-Marie-Tooth disease type 4 [RCV002746764]likely benign123261984132619841Human1name
155955291CV2077565single nucleotide variantNM_001370298.3(FGD4):c.2076A>G (p.Arg692=)Charcot-Marie-Tooth disease type 4 [RCV002880730]likely benign123262568332625683Human1name
156019073CV2114725single nucleotide variantNM_001370298.3(FGD4):c.2457C>T (p.Asp819=)Charcot-Marie-Tooth disease type 4 [RCV002909522]likely benign123264027832640278Human1name
156018673CV2120743single nucleotide variantNM_001370298.3(FGD4):c.1200C>T (p.Phe400=)Charcot-Marie-Tooth disease type 4 [RCV002976039]|FGD4-related disorder [RCV003943675]likely benign123260137632601376Human2name , trait , alternate_id
156125956CV2124900single nucleotide variantNM_001370298.3(FGD4):c.2325A>G (p.Ala775=)Charcot-Marie-Tooth disease type 4 [RCV002953686]likely benign123263866632638666Human1name
156067749CV2147814single nucleotide variantNM_001370298.3(FGD4):c.2230T>C (p.Leu744=)Charcot-Marie-Tooth disease type 4 [RCV003037471]likely benign123263360632633606Human1name
401931978CV2806845single nucleotide variantNM_001370298.3(FGD4):c.1098T>C (p.Asp366=)not provided [RCV003391699]likely benign123259858332598583Humanname
405140291CV2929665single nucleotide variantNM_001370298.3(FGD4):c.1368T>A (p.Arg456=)Charcot-Marie-Tooth disease type 4 [RCV003583976]likely benign123260228132602281Human1name
405095309CV2950071single nucleotide variantNM_001370298.3(FGD4):c.1608C>T (p.Asn536=)Charcot-Marie-Tooth disease type 4 [RCV003745791]likely benign123261114232611142Human1name
405246213CV2956294single nucleotide variantNM_001370298.3(FGD4):c.1014G>A (p.Glu338=)Charcot-Marie-Tooth disease type 4 [RCV003745907]likely benign123259849932598499Human1name
405090199CV3070049single nucleotide variantNM_001370298.3(FGD4):c.2292G>A (p.Lys764=)Charcot-Marie-Tooth disease type 4 [RCV003745141]likely benign123263366832633668Human1name
404976899CV3123654single nucleotide variantNM_001370298.3(FGD4):c.1632T>C (p.Tyr544=)Charcot-Marie-Tooth disease type 4 [RCV003825080]likely benign123261116632611166Human1name
405238183CV3167037single nucleotide variantNM_001370298.3(FGD4):c.1005G>A (p.Glu335=)Charcot-Marie-Tooth disease type 4 [RCV003854292]likely benign123258246132582461Human1name
11601099CV316822single nucleotide variantNM_001370298.3(FGD4):c.1263A>G (p.Arg421=)Charcot-Marie-Tooth disease [RCV001174100]|Charcot-Marie-Tooth disease type 4 [RCV001473634]|Charcot-Marie-Tooth disease type 4H [RCV000279341]likely benign|uncertain significance123260217632602176Human3name
11607153CV316836single nucleotide variantNM_001370298.3(FGD4):c.1470C>T (p.Pro490=)Charcot-Marie-Tooth disease type 4 [RCV000475322]|Charcot-Marie-Tooth disease type 4H [RCV001094110]|FGD4-related disorder [RCV003940176]|not provided [RCV001709587]benign|likely benign123260802232608022Human2name , trait , alternate_id
402467080CV3177747single nucleotide variantNM_001370298.3(FGD4):c.2700A>G (p.Lys900=)Charcot-Marie-Tooth disease type 4 [RCV003873185]likely benign123264052132640521Human1name
402514961CV3178852single nucleotide variantNM_001370298.3(FGD4):c.2421C>T (p.Asp807=)Charcot-Marie-Tooth disease type 4 [RCV003879285]likely benign123263876232638762Human1name
404989166CV3179947single nucleotide variantNM_001370298.3(FGD4):c.2679T>C (p.Asp893=)Charcot-Marie-Tooth disease type 4 [RCV003881425]likely benign123264050032640500Human1name
11659803CV324396single nucleotide variantNM_001370298.3(FGD4):c.268A>T (p.Ile90Leu)Charcot-Marie-Tooth disease type 4H [RCV000361572]uncertain significance123256423832564238Human1name
11620194CV330495single nucleotide variantNM_001370298.3(FGD4):c.1143G>A (p.Ser381=)Charcot-Marie-Tooth disease [RCV001174102]|Charcot-Marie-Tooth disease type 4 [RCV000539868]|Charcot-Marie-Tooth disease type 4H [RCV001094092]|FGD4-related disorder [RCV003940175]|Inborn genetic diseases [RCV002379185]|not provided [RCV004705253]|not specified benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance123260131932601319Human4name , trait , alternate_id
11621357CV330497single nucleotide variantNM_001370298.3(FGD4):c.1926T>C (p.Ser642=)Charcot-Marie-Tooth disease [RCV001172949]|Charcot-Marie-Tooth disease type 4 [RCV000475403]|Charcot-Marie-Tooth disease type 4H [RCV001094113]|FGD4-related disorder [RCV003930308]|not provided [RCV000711634]|not specified [RCV000430510]benign|likely benign123262442532624425Human3name , trait , alternate_id
12842569CV373199single nucleotide variantNM_001370298.3(FGD4):c.2193C>T (p.Ser731=)Charcot-Marie-Tooth disease type 4 [RCV000874212]|Inborn genetic diseases [RCV002402146]|not specified [RCV000434658]likely benign123263356932633569Human2name
597916003CV3737333single nucleotide variantNM_001370298.3(FGD4):c.1119G>A (p.Leu373=)Charcot-Marie-Tooth disease type 4 [RCV005074122]likely benign123260129532601295Human1name
597830378CV3742996single nucleotide variantNM_001370298.3(FGD4):c.1134C>T (p.Asn378=)Charcot-Marie-Tooth disease type 4 [RCV005062004]likely benign123260131032601310Human1name
12846946CV375047single nucleotide variantNM_001370298.3(FGD4):c.176C>G (p.Thr59Ser)not specified [RCV000442613]likely benign123256414632564146Humanname
597838207CV3758188single nucleotide variantNM_001370298.3(FGD4):c.1218G>A (p.Leu406=)Charcot-Marie-Tooth disease type 4 [RCV005086022]likely benign123260139432601394Human1name
597835075CV3760896single nucleotide variantNM_001370298.3(FGD4):c.2169A>T (p.Gly723=)Charcot-Marie-Tooth disease type 4 [RCV005085447]likely benign123262577632625776Human1name
597911560CV3782179single nucleotide variantNM_001370298.3(FGD4):c.2208A>G (p.Gln736=)Charcot-Marie-Tooth disease type 4 [RCV005128672]likely benign123263358432633584Human1name
597964008CV3792106single nucleotide variantNM_001370298.3(FGD4):c.2529A>G (p.Pro843=)Charcot-Marie-Tooth disease type 4 [RCV005139662]likely benign123264035032640350Human1name
597848187CV3824004single nucleotide variantNM_001370298.3(FGD4):c.2577A>G (p.Ala859=)Charcot-Marie-Tooth disease type 4 [RCV005173243]likely benign123264039832640398Human1name
597965221CV3826834single nucleotide variantNM_001370298.3(FGD4):c.2469G>A (p.Gln823=)Charcot-Marie-Tooth disease type 4 [RCV005164863]likely benign123264029032640290Human1name
597933489CV3858628single nucleotide variantNM_001370298.3(FGD4):c.1455T>C (p.Pro485=)Charcot-Marie-Tooth disease type 4 [RCV005207098]likely benign123260800732608007Human1name
598124015CV3883098single nucleotide variantNM_001370298.3(FGD4):c.1281G>A (p.Gln427=)Charcot-Marie-Tooth disease type 4H [RCV005234631]likely benign123260219432602194Human1name
12883648CV399440single nucleotide variantNM_001370298.3(FGD4):c.2625T>C (p.Ala875=)Charcot-Marie-Tooth disease type 4 [RCV001488811]|Inborn genetic diseases [RCV002429596]likely benign123264044632640446Human2name
13476982CV441537single nucleotide variantNM_001370298.3(FGD4):c.1971C>A (p.Ile657=)Charcot-Marie-Tooth disease type 4 [RCV005091181]|Inborn genetic diseases [RCV002404327]|not specified [RCV000516249]likely benign|uncertain significance123262499332624993Human2name
13479388CV462377single nucleotide variantNM_001370298.3(FGD4):c.1296C>T (p.Phe432=)Charcot-Marie-Tooth disease type 4 [RCV000528065]|Charcot-Marie-Tooth disease type 4H [RCV001110292]|Inborn genetic diseases [RCV002377181]|not provided [RCV001561490]|not specified [RCV000597812]benign|likely benign123260220932602209Human3name
13473770CV462894single nucleotide variantNM_001370298.3(FGD4):c.2373G>A (p.Glu791=)Charcot-Marie-Tooth disease [RCV001174098]|Charcot-Marie-Tooth disease type 4 [RCV000547950]|Inborn genetic diseases [RCV002420532]|not specified [RCV000607437]likely benign123263871432638714Human3name
13535958CV504106single nucleotide variantNM_001370298.3(FGD4):c.2148G>A (p.Arg716=)Charcot-Marie-Tooth disease type 4 [RCV001416107]|Inborn genetic diseases [RCV002404684]|not specified [RCV000608308]likely benign123262575532625755Human2name
13540325CV504395single nucleotide variantNM_001370298.3(FGD4):c.2451C>T (p.Pro817=)Charcot-Marie-Tooth disease type 4 [RCV003744605]|not specified [RCV000614541]likely benign123263879232638792Human1name
13625994CV527104single nucleotide variantNM_001370298.3(FGD4):c.2517C>T (p.Ser839=)Charcot-Marie-Tooth disease type 4 [RCV000654239]|Inborn genetic diseases [RCV002422423]likely benign123264033832640338Human2name
13626038CV527148single nucleotide variantNM_001370298.3(FGD4):c.2361T>G (p.Leu787=)Charcot-Marie-Tooth disease type 4 [RCV000654277]|Inborn genetic diseases [RCV002422424]likely benign123263870232638702Human2name
13625983CV527352single nucleotide variantNM_001370298.3(FGD4):c.1194T>C (p.Asn398=)Charcot-Marie-Tooth disease type 4 [RCV000654208]|Inborn genetic diseases [RCV002406480]|not provided [RCV003884697]likely benign123260137032601370Human2name
13626016CV527356single nucleotide variantNM_001370298.3(FGD4):c.1605G>A (p.Glu535=)Charcot-Marie-Tooth disease type 4 [RCV000654219]likely benign123261113932611139Human1name
13626028CV527358single nucleotide variantNM_001370298.3(FGD4):c.2133A>G (p.Ala711=)Charcot-Marie-Tooth disease type 4 [RCV001472776]|Inborn genetic diseases [RCV002406484]likely benign123262574032625740Human2name
14696573CV590025deletionNM_001370298.3(FGD4):c.925del (p.Ala309fs)Charcot-Marie-Tooth disease type 4H [RCV000782173]pathogenic123258237832582378Human1name
14699642CV625276duplicationNM_001370298.3(FGD4):c.925dup (p.Ala309fs)Charcot-Marie-Tooth disease [RCV000789102]|Charcot-Marie-Tooth disease type 4H [RCV003447170]uncertain significance123258237732582378Human2name
15123752CV684323single nucleotide variantNM_001370298.3(FGD4):c.1842A>G (p.Lys614=)Charcot-Marie-Tooth disease type 4 [RCV001504883]likely benign123261979032619790Human1name
15137858CV687980single nucleotide variantNM_001370298.3(FGD4):c.1809A>T (p.Thr603=)Charcot-Marie-Tooth disease type 4 [RCV001504427]likely benign123261975732619757Human1name
15146894CV687981single nucleotide variantNM_001370298.3(FGD4):c.1905A>G (p.Thr635=)not provided [RCV000866343]likely benign123261985332619853Humanname
15129940CV693190single nucleotide variantNM_001370298.3(FGD4):c.1170C>A (p.Ile390=)Charcot-Marie-Tooth disease type 4 [RCV005056645]likely benign123260134632601346Human1name
15106645CV693191single nucleotide variantNM_001370298.3(FGD4):c.2070C>A (p.Ala690=)Charcot-Marie-Tooth disease type 4 [RCV000871342]likely benign123262567732625677Human1name
15132936CV693192single nucleotide variantNM_001370298.3(FGD4):c.2169A>C (p.Gly723=)Charcot-Marie-Tooth disease type 4 [RCV002064842]likely benign123262577632625776Human1name
15114253CV693193single nucleotide variantNM_001370298.3(FGD4):c.2616C>T (p.Ile872=)Charcot-Marie-Tooth disease type 4 [RCV000872917]|not provided [RCV003392654]likely benign123264043732640437Human1name
15126034CV769095single nucleotide variantNM_001370298.3(FGD4):c.1284A>G (p.Lys428=)Charcot-Marie-Tooth disease type 4 [RCV001414915]likely benign123260219732602197Human1name
15180212CV769096single nucleotide variantNM_001370298.3(FGD4):c.2331A>G (p.Val777=)Charcot-Marie-Tooth disease type 4 [RCV000929829]likely benign123263867232638672Human1name
21406378CV799679duplicationNM_001370298.3(FGD4):c.905dup (p.Leu304fs)Charcot-Marie-Tooth disease, type 4H [RCV001002593]likely pathogenic123258236032582361Humanname
26891961CV839856single nucleotide variantNM_001370298.3(FGD4):c.2499G>A (p.Val833=)Charcot-Marie-Tooth disease type 4 [RCV001068478]likely benign|uncertain significance123264032032640320Human1name
28869245CV869680single nucleotide variantNM_001370298.3(FGD4):c.1980T>C (p.Phe660=)Charcot-Marie-Tooth disease type 4H [RCV001113028]uncertain significance123262500232625002Human1name
34890545CV905361single nucleotide variantNM_001370298.3(FGD4):c.1609C>T (p.Leu537=)Charcot-Marie-Tooth disease [RCV001174094]|Charcot-Marie-Tooth disease type 4 [RCV002558762]likely benign123261114332611143Human2name
34890556CV905362single nucleotide variantNM_001370298.3(FGD4):c.1824T>G (p.Val608=)Charcot-Marie-Tooth disease [RCV001174103]likely benign123261977232619772Human1name
34890551CV905364single nucleotide variantNM_001370298.3(FGD4):c.2631A>G (p.Thr877=)Charcot-Marie-Tooth disease [RCV001174099]likely benign123264045232640452Human1name
126770667CV1010399single nucleotide variantNM_001370298.3(FGD4):c.412A>G (p.Met138Val)Charcot-Marie-Tooth disease type 4 [RCV001322711]uncertain significance123257635832576358Human1name
126768223CV1010400single nucleotide variantNM_001370298.3(FGD4):c.430G>A (p.Ala144Thr)Charcot-Marie-Tooth disease type 4 [RCV001321243]uncertain significance123257637632576376Human1name
126765590CV1010401single nucleotide variantNM_001370298.3(FGD4):c.433T>C (p.Ser145Pro)Charcot-Marie-Tooth disease type 4 [RCV001320105]|Inborn genetic diseases [RCV002431915]|not provided [RCV004998821]likely benign|uncertain significance123257637932576379Human2name
126732194CV1030905single nucleotide variantNM_001370298.3(FGD4):c.488G>T (p.Arg163Leu)Charcot-Marie-Tooth disease type 4 [RCV001349559]uncertain significance123257643432576434Human1name
126767106CV1030906single nucleotide variantNM_001370298.3(FGD4):c.764C>T (p.Ala255Val)Charcot-Marie-Tooth disease type 4 [RCV001342689]uncertain significance123258222032582220Human1name
126917255CV1047912single nucleotide variantNM_001370298.3(FGD4):c.949G>A (p.Glu317Lys)Charcot-Marie-Tooth disease type 4 [RCV001361060]|not provided [RCV002462954]uncertain significance123258240532582405Human1name
127288175CV1152489single nucleotide variantNM_001370298.3(FGD4):c.658C>T (p.Gln220Ter)not provided [RCV001508326]likely pathogenic123258211432582114Humanname
127292348CV1162022single nucleotide variantNM_001370298.3(FGD4):c.789C>G (p.His263Gln)Charcot-Marie-Tooth disease type 4 [RCV001873717]|Charcot-Marie-Tooth disease type 4H [RCV001526879]|not provided [RCV003442888]uncertain significance123258224532582245Human2name
150496820CV1208649microsatelliteNM_001370298.3(FGD4):c.2046+264_2046+265delnot provided [RCV001593865]likely benign123262532932625330Humanname
150529641CV1292905single nucleotide variantNM_001370298.3(FGD4):c.556G>C (p.Ala186Pro)not provided [RCV001756298]uncertain significance123258201232582012Humanname
151868064CV1366752duplicationNM_001370298.3(FGD4):c.2444dup (p.Ala816fs)Charcot-Marie-Tooth disease type 4 [RCV001939418]pathogenic123263878332638784Human1name
151743611CV1387251single nucleotide variantNM_001370298.3(FGD4):c.674G>T (p.Cys225Phe)Charcot-Marie-Tooth disease type 4 [RCV001985486]uncertain significance123258213032582130Human1name
151713680CV1476658single nucleotide variantNM_001370298.3(FGD4):c.755C>G (p.Ser252Cys)Charcot-Marie-Tooth disease type 4 [RCV001908524]uncertain significance123258221132582211Human1name
151870825CV1488595single nucleotide variantNM_001370298.3(FGD4):c.671C>G (p.Thr224Ser)Charcot-Marie-Tooth disease type 4 [RCV002035643]uncertain significance123258212732582127Human1name
151734783CV1508742deletionNM_001370298.3(FGD4):c.2663del (p.Pro888fs)Charcot-Marie-Tooth disease type 4 [RCV002021676]uncertain significance123264048332640483Human1name
151798603CV1509192single nucleotide variantNM_001370298.3(FGD4):c.457A>G (p.Lys153Glu)Charcot-Marie-Tooth disease type 4 [RCV001866921]uncertain significance123257640332576403Human1name
155672462CV1799151single nucleotide variantNM_001370298.3(FGD4):c.904C>G (p.Leu302Val)Inborn genetic diseases [RCV002351305]uncertain significance123258236032582360Human1name
155734009CV1802188single nucleotide variantNM_001370298.3(FGD4):c.899C>G (p.Pro300Arg)Inborn genetic diseases [RCV002340532]uncertain significance123258235532582355Human1name
155720991CV1805483single nucleotide variantNM_001370298.3(FGD4):c.892A>G (p.Ile298Val)Inborn genetic diseases [RCV002338003]likely benign123258234832582348Human1name
155740270CV1809298single nucleotide variantNM_001370298.3(FGD4):c.908C>G (p.Pro303Arg)Inborn genetic diseases [RCV002342890]uncertain significance123258236432582364Human1name
155700273CV1821048single nucleotide variantNM_001370298.3(FGD4):c.500G>A (p.Gly167Asp)Inborn genetic diseases [RCV002376330]uncertain significance123257644632576446Human1name
155683548CV1830248single nucleotide variantNM_001370298.3(FGD4):c.559C>T (p.Pro187Ser)Inborn genetic diseases [RCV002389659]likely benign123258201532582015Human1name
155724679CV1838113deletionNM_001370298.3(FGD4):c.2104del (p.Cys702fs)Inborn genetic diseases [RCV002406188]pathogenic123262571132625711Human1name
156062386CV1888585single nucleotide variantNM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)Charcot-Marie-Tooth disease type 4 [RCV003079270]uncertain significance123257643932576439Human1name
156380804CV1927536single nucleotide variantNM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)Charcot-Marie-Tooth disease type 4 [RCV002634253]uncertain significance123258209932582099Human1name
10048752CV194535single nucleotide variantNM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)Charcot-Marie-Tooth disease [RCV001174115]|Charcot-Marie-Tooth disease type 4 [RCV000470504]|Charcot-Marie-Tooth disease type 4H [RCV001094214]|FGD4-related disorder [RCV003917661]|not provided [RCV004706617]|not specified [RCV000178387]benign|conflicting interpretations of pathogenicity|uncertain significance123258230232582302Human3name , trait , alternate_id
156066064CV1952247duplicationNM_001370298.3(FGD4):c.1573dup (p.Ser525fs)Charcot-Marie-Tooth disease type 4H [RCV002569459]likely pathogenic123261080332610804Human1name
156410532CV1958417single nucleotide variantNM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr)Charcot-Marie-Tooth disease type 4 [RCV002587183]uncertain significance123258226432582264Human1name
156393220CV2002332single nucleotide variantNM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)Charcot-Marie-Tooth disease type 4 [RCV002680970]uncertain significance123258214132582141Human1name
155944239CV2032566single nucleotide variantNM_001370298.3(FGD4):c.824C>A (p.Ala275Asp)Charcot-Marie-Tooth disease type 4 [RCV002730309]uncertain significance123258228032582280Human1name
156107295CV2038583single nucleotide variantNM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)Charcot-Marie-Tooth disease type 4 [RCV002761548]uncertain significance123258207032582070Human1name
155937890CV2054694duplicationNM_001370298.3(FGD4):c.2452dup (p.Gln818fs)Charcot-Marie-Tooth disease type 4 [RCV002815496]pathogenic123263878732638788Human1name
156332452CV2061447single nucleotide variantNM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)Charcot-Marie-Tooth disease type 4 [RCV002810759]uncertain significance123258199232581992Human1name
156164046CV2097017single nucleotide variantNM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)Charcot-Marie-Tooth disease type 4 [RCV002872767]uncertain significance123258236332582363Human1name
156322275CV2101122single nucleotide variantNM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)Charcot-Marie-Tooth disease type 4 [RCV002899382]uncertain significance123258227932582279Human1name
156164491CV2135771single nucleotide variantNM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)Charcot-Marie-Tooth disease type 4 [RCV002983131]uncertain significance123258231832582318Human1name
156311670CV2165467single nucleotide variantNM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)Charcot-Marie-Tooth disease type 4 [RCV003028617]pathogenic123258245032582450Human1name
243059005CV2410067single nucleotide variantNM_001370298.3(FGD4):c.752C>T (p.Thr251Ile)Charcot-Marie-Tooth disease type 4H [RCV003147241]uncertain significance123258220832582208Human1name
243059006CV2410068single nucleotide variantNM_001370298.3(FGD4):c.827C>T (p.Pro276Leu)Charcot-Marie-Tooth disease type 4H [RCV003147242]uncertain significance123258228332582283Human1name
243059007CV2410069single nucleotide variantNM_001370298.3(FGD4):c.962G>A (p.Gly321Glu)Charcot-Marie-Tooth disease type 4H [RCV003147243]uncertain significance123258241832582418Human1name
11350132CV243836single nucleotide variantNM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)Charcot-Marie-Tooth disease type 4 [RCV000558088]|Charcot-Marie-Tooth disease type 4H [RCV001112953]|Inborn genetic diseases [RCV002450716]|not provided [RCV000233379]likely benign|uncertain significance123258219632582196Human3name
11523917CV244817single nucleotide variantNM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)Charcot-Marie-Tooth disease type 4 [RCV000536689]|Charcot-Marie-Tooth disease type 4H [RCV001112952]|Inborn genetic diseases [RCV002347926]|not provided [RCV000236575]uncertain significance123257640732576407Human3name
11523791CV244818single nucleotide variantNM_001370298.3(FGD4):c.792A>G (p.Ile264Met)Charcot-Marie-Tooth disease type 4 [RCV000654107]|Charcot-Marie-Tooth disease type 4H [RCV003600370]|Inborn genetic diseases [RCV002356319]|not provided [RCV000236336]uncertain significance123258224832582248Human3name
11523688CV244819single nucleotide variantNM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)Charcot-Marie-Tooth disease [RCV001173484]|Charcot-Marie-Tooth disease type 4 [RCV001079406]|Charcot-Marie-Tooth disease type 4H [RCV001114309]|Inborn genetic diseases [RCV002338766]|not provided [RCV000236369]likely benign|conflicting interpretations of pathogenicity|uncertain significance123258234632582346Human4name
11523987CV244820single nucleotide variantNM_001370298.3(FGD4):c.895G>C (p.Gly299Arg)not provided [RCV000236896]uncertain significance123258235132582351Humanname
11524000CV244821single nucleotide variantNM_001370298.3(FGD4):c.980T>A (p.Leu327Gln)Charcot-Marie-Tooth disease type 4 [RCV000654106]|Charcot-Marie-Tooth disease type 4H [RCV003600371]|Inborn genetic diseases [RCV002347922]|not provided [RCV000236923]uncertain significance123258243632582436Human3name
11611565CV316818single nucleotide variantNM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)Charcot-Marie-Tooth disease type 4H [RCV000396677]|not provided [RCV001092390]|not specified [RCV000439988]likely benign|uncertain significance123257632232576322Human1name
11600348CV316820single nucleotide variantNM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)Charcot-Marie-Tooth disease type 4 [RCV000273309]|Charcot-Marie-Tooth disease type 4H [RCV001094213]|Inborn genetic diseases [RCV002374527]uncertain significance123258226532582265Human3name
405759332CV3253537single nucleotide variantNM_001370298.3(FGD4):c.434C>T (p.Ser145Phe)Inborn genetic diseases [RCV004393971]uncertain significance123257638032576380Human1name
405759338CV3253538single nucleotide variantNM_001370298.3(FGD4):c.698C>G (p.Ala233Gly)Inborn genetic diseases [RCV004393972]uncertain significance123258215432582154Human1name
11614398CV330492single nucleotide variantNM_001370298.3(FGD4):c.980T>C (p.Leu327Pro)Charcot-Marie-Tooth disease type 4H [RCV000276768]uncertain significance123258243632582436Human1name
11622858CV331849single nucleotide variantNM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)Charcot-Marie-Tooth disease type 4 [RCV002520803]|Charcot-Marie-Tooth disease type 4H [RCV000365553]|Inborn genetic diseases [RCV002321982]uncertain significance123258217732582177Human3name
597653539CV3672595single nucleotide variantNM_001370298.3(FGD4):c.544G>A (p.Val182Met)Inborn genetic diseases [RCV004975057]uncertain significance123258200032582000Human1name
597653552CV3672598single nucleotide variantNM_001370298.3(FGD4):c.970C>A (p.Pro324Thr)Inborn genetic diseases [RCV004975059]uncertain significance123258242632582426Human1name
597904118CV3793221single nucleotide variantNM_001370298.3(FGD4):c.601C>T (p.Gln201Ter)Charcot-Marie-Tooth disease type 4 [RCV005153189]pathogenic123258205732582057Human1name
597955196CV3796149single nucleotide variantNM_001370298.3(FGD4):c.664G>T (p.Ala222Ser)Charcot-Marie-Tooth disease type 4 [RCV005136966]uncertain significance123258212032582120Human1name
597965963CV3823651duplicationNM_001370298.3(FGD4):c.2058dup (p.Gly687fs)Charcot-Marie-Tooth disease type 4 [RCV005165071]pathogenic123262566432625665Human1name
12886627CV398958single nucleotide variantNM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)Charcot-Marie-Tooth disease [RCV001173489]|Charcot-Marie-Tooth disease type 4 [RCV001079716]|Charcot-Marie-Tooth disease type 4H [RCV001283349]|FGD4-related disorder [RCV003960079]|Inborn genetic diseases [RCV002446876]|not provided [RCV000757290]likely benign123258210332582103Human4name , trait , alternate_id
12890261CV399675deletionNM_001370298.3(FGD4):c.2452del (p.Gln818fs)Charcot-Marie-Tooth disease type 4 [RCV000474290]pathogenic|uncertain significance123263878832638788Human1name
13471450CV444976duplicationNM_001370298.3(FGD4):c.2416dup (p.Gln806fs)not provided [RCV000518861]likely pathogenic123263875632638757Humanname
13481447CV462892single nucleotide variantNM_001370298.3(FGD4):c.950A>G (p.Glu317Gly)Charcot-Marie-Tooth disease type 4 [RCV000551434]uncertain significance123258240632582406Human1name
13472380CV463021single nucleotide variantNM_001370298.3(FGD4):c.469G>A (p.Val157Ile)Charcot-Marie-Tooth disease type 4 [RCV000524881]|Inborn genetic diseases [RCV002358616]|not provided [RCV004791571]uncertain significance123257641532576415Human2name
13625908CV527137single nucleotide variantNM_001370298.3(FGD4):c.595C>T (p.Pro199Ser)Charcot-Marie-Tooth disease type 4 [RCV000654120]uncertain significance123258205132582051Human1name
13625935CV527141single nucleotide variantNM_001370298.3(FGD4):c.848G>T (p.Ser283Ile)Charcot-Marie-Tooth disease type 4 [RCV000654153]uncertain significance123258230432582304Human1name
13816546CV565425single nucleotide variantNM_001370298.3(FGD4):c.953G>A (p.Arg318Lys)Charcot-Marie-Tooth disease type 4 [RCV000706433]uncertain significance123258240932582409Human1name
13814838CV566796deletionNM_001370298.3(FGD4):c.1402del (p.Gln468fs)Charcot-Marie-Tooth disease type 4 [RCV000691156]|not provided [RCV001508327]pathogenic|likely pathogenic123260231532602315Human1name
13819786CV567992single nucleotide variantNM_001370298.3(FGD4):c.785C>G (p.Thr262Arg)Charcot-Marie-Tooth disease type 4 [RCV000694541]|not provided [RCV004692132]uncertain significance123258224132582241Human1name
13805440CV571775single nucleotide variantNM_001370298.3(FGD4):c.854A>T (p.Asp285Val)Charcot-Marie-Tooth disease type 4 [RCV000700075]uncertain significance123258231032582310Human1name
14696574CV590026duplicationNM_001370298.3(FGD4):c.2622dup (p.Ala875fs)Charcot-Marie-Tooth disease type 4H [RCV000782174]pathogenic123264044232640443Human1name
14714660CV641063single nucleotide variantNM_001370298.3(FGD4):c.487C>T (p.Arg163Cys)Charcot-Marie-Tooth disease type 4 [RCV000794500]uncertain significance123257643332576433Human1name
14743823CV641064single nucleotide variantNM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)Charcot-Marie-Tooth disease [RCV001173486]|Charcot-Marie-Tooth disease type 4 [RCV000823692]|Inborn genetic diseases [RCV003169055]uncertain significance123258196232581962Human3name
14733368CV641066single nucleotide variantNM_001370298.3(FGD4):c.955G>A (p.Glu319Lys)Charcot-Marie-Tooth disease type 4 [RCV000818671]uncertain significance123258241132582411Human1name
14702661CV641069deletionNM_001370298.3(FGD4):c.1454del (p.Pro485fs)Charcot-Marie-Tooth disease type 4 [RCV000807063]pathogenic123260800532608005Human1name
15134877CV684322single nucleotide variantNM_001370298.3(FGD4):c.785C>T (p.Thr262Met)Charcot-Marie-Tooth disease [RCV001174104]|Charcot-Marie-Tooth disease type 4 [RCV000864209]|Charcot-Marie-Tooth disease type 4H [RCV001114308]|Inborn genetic diseases [RCV002345961]benign|likely benign|uncertain significance123258224132582241Human4name
26884935CV839842single nucleotide variantNM_001370298.3(FGD4):c.596C>T (p.Pro199Leu)Charcot-Marie-Tooth disease type 4 [RCV001065146]uncertain significance123258205232582052Human1name
26897707CV839843single nucleotide variantNM_001370298.3(FGD4):c.708G>T (p.Gln236His)Charcot-Marie-Tooth disease type 4 [RCV001070436]uncertain significance123258216432582164Human1name
26884846CV839844single nucleotide variantNM_001370298.3(FGD4):c.727A>G (p.Lys243Glu)Charcot-Marie-Tooth disease type 4 [RCV001065093]uncertain significance123258218332582183Human1name
26923302CV839845single nucleotide variantNM_001370298.3(FGD4):c.790A>G (p.Ile264Val)Charcot-Marie-Tooth disease type 4 [RCV001063709]|Inborn genetic diseases [RCV004030506]uncertain significance123258224632582246Human2name
26904479CV839846single nucleotide variantNM_001370298.3(FGD4):c.808G>A (p.Asp270Asn)Charcot-Marie-Tooth disease type 4 [RCV001036574]|Inborn genetic diseases [RCV002372748]uncertain significance123258226432582264Human2name
26907581CV839847single nucleotide variantNM_001370298.3(FGD4):c.871A>G (p.Ser291Gly)Charcot-Marie-Tooth disease type 4 [RCV001052284]uncertain significance123258232732582327Human1name
26916135CV839848single nucleotide variantNM_001370298.3(FGD4):c.984G>T (p.Glu328Asp)Charcot-Marie-Tooth disease type 4 [RCV001041763]uncertain significance123258244032582440Human1name
26922563CV839850deletionNM_001370298.3(FGD4):c.1051del (p.Leu351fs)Charcot-Marie-Tooth disease type 4 [RCV001062320]pathogenic123259853632598536Human1name
34890054CV905360single nucleotide variantNM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)Charcot-Marie-Tooth disease [RCV001173485]|Charcot-Marie-Tooth disease type 4 [RCV001210333]uncertain significance123258213032582130Human2name
38474718CV926602single nucleotide variantNM_001370298.3(FGD4):c.431C>G (p.Ala144Gly)Charcot-Marie-Tooth disease type 4 [RCV001214860]uncertain significance123257637732576377Human1name
38480124CV926603single nucleotide variantNM_001370298.3(FGD4):c.610C>G (p.Leu204Val)Charcot-Marie-Tooth disease type 4 [RCV001217405]uncertain significance123258206632582066Human1name
38486107CV926604single nucleotide variantNM_001370298.3(FGD4):c.638G>A (p.Gly213Glu)Charcot-Marie-Tooth disease type 4 [RCV001220148]|Charcot-Marie-Tooth disease type 4H [RCV005394833]|Inborn genetic diseases [RCV002447105]|not provided [RCV003481001]uncertain significance123258209432582094Human3name
38479403CV926605single nucleotide variantNM_001370298.3(FGD4):c.838A>G (p.Thr280Ala)Charcot-Marie-Tooth disease type 4 [RCV001217059]uncertain significance123258229432582294Human1name
38460619CV936089single nucleotide variantNM_001370298.3(FGD4):c.472T>C (p.Ser158Pro)Charcot-Marie-Tooth disease type 4 [RCV001211862]|Inborn genetic diseases [RCV002365952]uncertain significance123257641832576418Human2name
38486547CV936090single nucleotide variantNM_001370298.3(FGD4):c.593C>T (p.Thr198Ile)Charcot-Marie-Tooth disease type 4 [RCV001208940]uncertain significance123258204932582049Human1name
38482459CV936092single nucleotide variantNM_001370298.3(FGD4):c.958A>G (p.Asn320Asp)Charcot-Marie-Tooth disease type 4 [RCV001207267]uncertain significance123258241432582414Human1name
38496842CV947987single nucleotide variantNM_001370298.3(FGD4):c.733G>A (p.Ala245Thr)Charcot-Marie-Tooth disease type 4 [RCV001226665]uncertain significance123258218932582189Human1name
38469864CV956856single nucleotide variantNM_001370298.3(FGD4):c.683A>G (p.Asn228Ser)Charcot-Marie-Tooth disease type 4 [RCV001248306]uncertain significance123258213932582139Human1name
126762475CV995171single nucleotide variantNM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)Charcot-Marie-Tooth disease type 4 [RCV001309895]uncertain significance123258217232582172Human1name
126742041CV1010402single nucleotide variantNM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr)Charcot-Marie-Tooth disease type 4 [RCV001314607]uncertain significance123259855232598552Human1name
126733985CV1010403single nucleotide variantNM_001370298.3(FGD4):c.1390G>A (p.Val464Ile)Charcot-Marie-Tooth disease type 4 [RCV001313489]uncertain significance123260230332602303Human1name
126753286CV1010404single nucleotide variantNM_001370298.3(FGD4):c.1535A>T (p.Asp512Val)Charcot-Marie-Tooth disease type 4 [RCV001316453]uncertain significance123260808732608087Human1name
126757912CV1010405single nucleotide variantNM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe)Charcot-Marie-Tooth disease type 4 [RCV001317628]uncertain significance123261079432610794Human1name
126753731CV1010406single nucleotide variantNM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg)Charcot-Marie-Tooth disease type 4 [RCV001327346]uncertain significance123263360432633604Human1name
126728412CV1030907single nucleotide variantNM_001370298.3(FGD4):c.1156A>G (p.Met386Val)Charcot-Marie-Tooth disease type 4 [RCV001348916]uncertain significance123260133232601332Human1name
126768994CV1030908single nucleotide variantNM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser)Charcot-Marie-Tooth disease type 4 [RCV001343675]|not specified [RCV005408849]uncertain significance123262504632625046Human1name
126771132CV1030909single nucleotide variantNM_001370298.3(FGD4):c.2404G>A (p.Val802Met)Charcot-Marie-Tooth disease type 4 [RCV001344866]|Inborn genetic diseases [RCV002419020]uncertain significance123263874532638745Human2name
126774482CV1030910single nucleotide variantNM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter)Charcot-Marie-Tooth disease type 4 [RCV001347277]uncertain significance123264052532640525Human1name
126913195CV1038151single nucleotide variantNM_001370298.3(FGD4):c.2602T>C (p.Trp868Arg)Inborn genetic diseases [RCV002548517]|not provided [RCV001357146]uncertain significance123264042332640423Human1name
126923031CV1047913single nucleotide variantNM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln)Charcot-Marie-Tooth disease type 4 [RCV001365378]|not provided [RCV004697122]uncertain significance123260141132601411Human1name
126922854CV1047914single nucleotide variantNM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe)Charcot-Marie-Tooth disease type 4 [RCV001365160]uncertain significance123260218932602189Human1name
126908386CV1047915single nucleotide variantNM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu)Charcot-Marie-Tooth disease type 4 [RCV001367802]uncertain significance123262573032625730Human1name
126923119CV1047916single nucleotide variantNM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr)Charcot-Marie-Tooth disease type 4 [RCV001365479]|Inborn genetic diseases [RCV004036943]uncertain significance123264033932640339Human2name
126917961CV1047917single nucleotide variantNM_001370298.3(FGD4):c.2680C>T (p.His894Tyr)Charcot-Marie-Tooth disease type 4 [RCV001372378]uncertain significance123264050132640501Human1name
127252921CV1062602single nucleotide variantNM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)Charcot-Marie-Tooth disease type 4 [RCV001385811]pathogenic123262568632625686Human1name
127288178CV1152490single nucleotide variantNM_001370298.3(FGD4):c.1769A>C (p.Tyr590Ser)not provided [RCV001508328]uncertain significance123261971732619717Humanname
127298865CV1156980single nucleotide variantNM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)Charcot-Marie-Tooth disease [RCV005369901]|Charcot-Marie-Tooth disease type 4 [RCV001513461]|Inborn genetic diseases [RCV002368542]|not specified [RCV001664917]benign|likely benign123259856032598560Human3name
150338630CV1174321single nucleotide variantNM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln)Charcot-Marie-Tooth disease type 4H [RCV001542681]|Inborn genetic diseases [RCV003246982]likely pathogenic|uncertain significance123262576632625766Human2name
151779657CV1341661single nucleotide variantNM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser)Charcot-Marie-Tooth disease type 4 [RCV001897118]uncertain significance123264033932640339Human1name
151830153CV1343413single nucleotide variantNM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly)Charcot-Marie-Tooth disease type 4 [RCV001920411]uncertain significance123263366132633661Human1name
151838563CV1344809single nucleotide variantNM_001370298.3(FGD4):c.1846G>A (p.Val616Ile)Charcot-Marie-Tooth disease type 4 [RCV002015059]uncertain significance123261979432619794Human1name
151758574CV1349856single nucleotide variantNM_001370298.3(FGD4):c.1387G>A (p.Val463Met)Charcot-Marie-Tooth disease type 4 [RCV001986999]uncertain significance123260230032602300Human1name
151831121CV1354275single nucleotide variantNM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)Charcot-Marie-Tooth disease type 4 [RCV001880318]|Charcot-Marie-Tooth disease type 4H [RCV003146263]uncertain significance123261114632611146Human2name
151738499CV1358641single nucleotide variantNM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser)Charcot-Marie-Tooth disease type 4 [RCV001967900]uncertain significance123260228532602285Human1name
151811755CV1359510single nucleotide variantNM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg)Charcot-Marie-Tooth disease type 4 [RCV001991898]|Inborn genetic diseases [RCV002423214]uncertain significance123264046532640465Human2name
151814753CV1360610single nucleotide variantNM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu)Charcot-Marie-Tooth disease type 4 [RCV001878627]uncertain significance123259858332598583Human1name
151802295CV1368970single nucleotide variantNM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro)Charcot-Marie-Tooth disease type 4 [RCV002028210]uncertain significance123261974632619746Human1name
151832043CV1377983single nucleotide variantNM_001370298.3(FGD4):c.1348G>A (p.Val450Ile)Charcot-Marie-Tooth disease type 4 [RCV002014400]|Inborn genetic diseases [RCV002443049]uncertain significance123260226132602261Human2name
151881920CV1395944single nucleotide variantNM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys)Charcot-Marie-Tooth disease type 4 [RCV002037025]uncertain significance123262498532624985Human1name
151799375CV1396482single nucleotide variantNM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro)Charcot-Marie-Tooth disease type 4 [RCV001917569]uncertain significance123260801532608015Human1name
151789556CV1399667single nucleotide variantNM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu)Charcot-Marie-Tooth disease type 4 [RCV001916681]uncertain significance123264035932640359Human1name
151772562CV1400957single nucleotide variantNM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp)Charcot-Marie-Tooth disease type 4 [RCV002045387]uncertain significance123264048732640487Human1name
151859260CV1403497single nucleotide variantNM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser)Charcot-Marie-Tooth disease type 4 [RCV001979912]uncertain significance123260219932602199Human1name
151800825CV1404041single nucleotide variantNM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser)Charcot-Marie-Tooth disease type 4 [RCV001973892]uncertain significance123264046532640465Human1name
151884053CV1404940single nucleotide variantNM_001370298.3(FGD4):c.2645G>T (p.Gly882Val)Charcot-Marie-Tooth disease type 4 [RCV001962253]|Inborn genetic diseases [RCV002425140]uncertain significance123264046632640466Human2name
151769517CV1410661single nucleotide variantNM_001370298.3(FGD4):c.2666C>T (p.Ala889Val)Charcot-Marie-Tooth disease type 4 [RCV001971039]uncertain significance123264048732640487Human1name
151722591CV1414032single nucleotide variantNM_001370298.3(FGD4):c.2263A>G (p.Ile755Val)Charcot-Marie-Tooth disease type 4 [RCV002020396]|Inborn genetic diseases [RCV002657729]uncertain significance123263363932633639Human2name
151755491CV1417756single nucleotide variantNM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln)Charcot-Marie-Tooth disease type 4 [RCV001894756]uncertain significance123260809532608095Human1name
151775893CV1427100single nucleotide variantNM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu)Charcot-Marie-Tooth disease type 4 [RCV002009283]|Inborn genetic diseases [RCV004046196]uncertain significance123264034432640344Human2name
151885108CV1429127single nucleotide variantNM_001370298.3(FGD4):c.1202A>T (p.His401Leu)Charcot-Marie-Tooth disease type 4 [RCV002000412]uncertain significance123260137832601378Human1name
151749123CV1430287single nucleotide variantNM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr)Charcot-Marie-Tooth disease type 4 [RCV002006674]uncertain significance123260224732602247Human1name
151827466CV1437818single nucleotide variantNM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln)Charcot-Marie-Tooth disease type 4 [RCV001920163]uncertain significance123260131232601312Human1name
151770269CV1454565single nucleotide variantNM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln)Charcot-Marie-Tooth disease type 4 [RCV001950090]|not provided [RCV004999553]uncertain significance123260801532608015Human1name
151738689CV1455098single nucleotide variantNM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys)Charcot-Marie-Tooth disease type 4 [RCV002005596]uncertain significance123262577832625778Human1name
151854026CV1455572single nucleotide variantNM_001370298.3(FGD4):c.1391T>C (p.Val464Ala)Charcot-Marie-Tooth disease type 4 [RCV002016954]uncertain significance123260230432602304Human1name
151667572CV1460791single nucleotide variantNM_001370298.3(FGD4):c.2429T>C (p.Val810Ala)Charcot-Marie-Tooth disease type 4 [RCV001888915]uncertain significance123263877032638770Human1name
151828866CV1468682single nucleotide variantNM_001370298.3(FGD4):c.1339A>G (p.Met447Val)Charcot-Marie-Tooth disease type 4 [RCV002030600]uncertain significance123260225232602252Human1name
151836329CV1471698single nucleotide variantNM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter)Charcot-Marie-Tooth disease type 4 [RCV001956214]pathogenic123260131132601311Human1name
151887498CV1472000single nucleotide variantNM_001370298.3(FGD4):c.2029A>G (p.Ile677Val)Charcot-Marie-Tooth disease type 4 [RCV002000894]uncertain significance123262505132625051Human1name
151739828CV1476210single nucleotide variantNM_001370298.3(FGD4):c.2563C>T (p.His855Tyr)Charcot-Marie-Tooth disease type 4 [RCV001911820]uncertain significance123264038432640384Human1name
151778339CV1477082single nucleotide variantNM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)Charcot-Marie-Tooth disease type 4 [RCV001897003]pathogenic123262569032625690Human1name
151733143CV1477449single nucleotide variantNM_001370298.3(FGD4):c.2626G>A (p.Val876Ile)Charcot-Marie-Tooth disease type 4 [RCV001967321]uncertain significance123264044732640447Human1name
151743198CV1478270single nucleotide variantNM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu)Charcot-Marie-Tooth disease type 4 [RCV002006021]uncertain significance123260224032602240Human1name
151748970CV1487340single nucleotide variantNM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu)Charcot-Marie-Tooth disease type 4 [RCV001947937]|Inborn genetic diseases [RCV002441035]uncertain significance123260808832608088Human2name
151740086CV1490509single nucleotide variantNM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter)Charcot-Marie-Tooth disease type 4 [RCV001985156]|Charcot-Marie-Tooth disease type 4H [RCV005397189]pathogenic|likely pathogenic123262442932624429Human2name
151735463CV1494319single nucleotide variantNM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn)Charcot-Marie-Tooth disease type 4 [RCV001984655]uncertain significance123262499432624994Human1name
151732731CV1497682single nucleotide variantNM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln)Charcot-Marie-Tooth disease type 4 [RCV001946220]uncertain significance123263871232638712Human1name
151873227CV1499492single nucleotide variantNM_001370298.3(FGD4):c.2278G>C (p.Asp760His)Charcot-Marie-Tooth disease type 4 [RCV001885540]uncertain significance123263365432633654Human1name
151834372CV1505024single nucleotide variantNM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys)Charcot-Marie-Tooth disease type 4 [RCV001976975]uncertain significance123264031332640313Human1name
151795950CV1505566single nucleotide variantNM_001370298.3(FGD4):c.1268G>T (p.Gly423Val)Charcot-Marie-Tooth disease type 4 [RCV002047543]uncertain significance123260218132602181Human1name
151753037CV1508621single nucleotide variantNM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg)Charcot-Marie-Tooth disease type 4 [RCV001986489]uncertain significance123261126432611264Human1name
151734843CV1508751single nucleotide variantNM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser)Charcot-Marie-Tooth disease type 4 [RCV002021685]uncertain significance123261976532619765Human1name
8595267CV16050single nucleotide variantNM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)Charcot-Marie-Tooth disease type 4 [RCV001851524]|Charcot-Marie-Tooth disease type 4H [RCV000001066]|not provided [RCV001311296]pathogenic|conflicting interpretations of pathogenicity123259856632598566Human2name
8595268CV16053single nucleotide variantNM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)Charcot-Marie-Tooth disease type 4H [RCV000001069]pathogenic|conflicting interpretations of pathogenicity123262577432625774Human1name
8595269CV16054single nucleotide variantNM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)Charcot-Marie-Tooth disease [RCV000789103]|Charcot-Marie-Tooth disease type 4H [RCV000001070]pathogenic|conflicting interpretations of pathogenicity|uncertain significance123260221732602217Human2name
8595270CV16055single nucleotide variantNM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)Charcot-Marie-Tooth disease type 4 [RCV001248027]|Charcot-Marie-Tooth disease type 4H [RCV000001071]pathogenic|conflicting interpretations of pathogenicity123260141032601410Human2name
155641856CV1707159single nucleotide variantNM_001370298.3(FGD4):c.1715G>A (p.Arg572Gln)Charcot-Marie-Tooth disease type 4 [RCV005058238]|not provided [RCV002288089]uncertain significance123261124932611249Human1name
155749042CV1779104single nucleotide variantNM_001370298.3(FGD4):c.1390G>T (p.Val464Phe)Charcot-Marie-Tooth disease type 4 [RCV002304194]uncertain significance123260230332602303Human1name
155687501CV1816004single nucleotide variantNM_001370298.3(FGD4):c.1158G>A (p.Met386Ile)Charcot-Marie-Tooth disease type 4 [RCV003120958]|Inborn genetic diseases [RCV002391503]|not provided [RCV005001309]uncertain significance123260133432601334Human2name
155708739CV1832552single nucleotide variantNM_001370298.3(FGD4):c.1795G>A (p.Gly599Ser)Inborn genetic diseases [RCV002396490]uncertain significance123261974332619743Human1name
155693507CV1837187single nucleotide variantNM_001370298.3(FGD4):c.1943A>G (p.Glu648Gly)Inborn genetic diseases [RCV002392567]uncertain significance123262444232624442Human1name
155682472CV1839798single nucleotide variantNM_001370298.3(FGD4):c.2386T>C (p.Trp796Arg)Inborn genetic diseases [RCV002423574]uncertain significance123263872732638727Human1name
155677884CV1840092single nucleotide variantNM_001370298.3(FGD4):c.2477T>G (p.Ile826Ser)Inborn genetic diseases [RCV002422044]uncertain significance123264029832640298Human1name
155670378CV1843503single nucleotide variantNM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)Charcot-Marie-Tooth disease type 4 [RCV003098574]|Inborn genetic diseases [RCV002419887]|not provided [RCV002473382]uncertain significance123263879132638791Human2name
155740027CV1846160single nucleotide variantNM_001370298.3(FGD4):c.2339A>G (p.Asn780Ser)Inborn genetic diseases [RCV002410829]uncertain significance123263868032638680Human1name
10041325CV186162single nucleotide variantNM_001370298.3(FGD4):c.1078A>C (p.Asn360His)Charcot-Marie-Tooth disease type 4 [RCV000168307]|Inborn genetic diseases [RCV005338090]uncertain significance123259856332598563Human2name
10041291CV186163single nucleotide variantNM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)Charcot-Marie-Tooth disease [RCV001174096]|Charcot-Marie-Tooth disease type 4 [RCV000168099]|Charcot-Marie-Tooth disease type 4H [RCV001094112]|FGD4-related disorder [RCV003982919]|Inborn genetic diseases [RCV002381537]|not provided [RCV000857634]|not specified likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance123261972532619725Human4name , trait , alternate_id
10041358CV186164single nucleotide variantNM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)Charcot-Marie-Tooth disease [RCV001174114]|Charcot-Marie-Tooth disease type 4 [RCV000168459]|Charcot-Marie-Tooth disease type 4H [RCV001094181]|FGD4-related disorder [RCV003917576]|Inborn genetic diseases [RCV002399597]|not provided [RCV000658641]|not specified benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance123262572932625729Human4name , trait , alternate_id
10041348CV186165single nucleotide variantNM_001370298.3(FGD4):c.2560G>A (p.Val854Met)Charcot-Marie-Tooth disease type 4 [RCV001080120]|Charcot-Marie-Tooth disease type 4H [RCV001114409]|FGD4-related disorder [RCV003937521]|Inborn genetic diseases [RCV002426801]|not provided [RCV000727143]|not specified [RCV000236955]likely benign|conflicting interpretations of pathogenicity|uncertain significance123264038132640381Human3name , trait , alternate_id
155948478CV1869165single nucleotide variantNM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)Charcot-Marie-Tooth disease type 4 [RCV003074001]uncertain significance123261118432611184Human1name
156396625CV1870869single nucleotide variantNM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)Charcot-Marie-Tooth disease type 4 [RCV003068671]uncertain significance123260130532601305Human1name
156206289CV1874373single nucleotide variantNM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)Charcot-Marie-Tooth disease type 4 [RCV003058352]uncertain significance123259856432598564Human1name
156023570CV1892481single nucleotide variantNM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)Charcot-Marie-Tooth disease type 4 [RCV003077748]|Inborn genetic diseases [RCV004978555]uncertain significance123260139632601396Human2name
155955994CV1907274single nucleotide variantNM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)Charcot-Marie-Tooth disease type 4 [RCV003095588]pathogenic123261981732619817Human1name
156264808CV1910177single nucleotide variantNM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)Charcot-Marie-Tooth disease type 4 [RCV002627888]uncertain significance123260804532608045Human1name
156053969CV1935036single nucleotide variantNM_001370298.3(FGD4):c.1839G>A (p.Met613Ile)not specified [RCV002510322]uncertain significance123261978732619787Humanname
156436995CV1936819single nucleotide variantNM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)Charcot-Marie-Tooth disease type 4 [RCV003106522]uncertain significance123263876432638764Human1name
156435768CV1937130single nucleotide variantNM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)Charcot-Marie-Tooth disease type 4 [RCV003104999]uncertain significance123260228332602283Human1name
156441659CV1940989single nucleotide variantNM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)Charcot-Marie-Tooth disease type 4 [RCV003111987]uncertain significance123260225732602257Human1name
156325835CV1972691single nucleotide variantNM_001370298.3(FGD4):c.2162C>T (p.Ala721Val)Charcot-Marie-Tooth disease type 4 [RCV002600520]uncertain significance123262576932625769Human1name
156085640CV1987592single nucleotide variantNM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro)Charcot-Marie-Tooth disease type 4 [RCV002621687]uncertain significance123260131732601317Human1name
155941609CV2022410single nucleotide variantNM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro)Charcot-Marie-Tooth disease type 4 [RCV002730153]uncertain significance123264048632640486Human1name
156129494CV2027782single nucleotide variantNM_001370298.3(FGD4):c.2330T>C (p.Val777Ala)Charcot-Marie-Tooth disease type 4 [RCV002740510]uncertain significance123263867132638671Human1name
156145254CV2037284single nucleotide variantNM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln)Charcot-Marie-Tooth disease type 4 [RCV002786663]uncertain significance123261976232619762Human1name
155907813CV2052413single nucleotide variantNM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr)Charcot-Marie-Tooth disease type 4 [RCV002837486]uncertain significance123260224632602246Human1name
155945543CV2062177single nucleotide variantNM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)Charcot-Marie-Tooth disease type 4 [RCV002815959]pathogenic123264041732640417Human1name
156077779CV2083550single nucleotide variantNM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)Charcot-Marie-Tooth disease type 4 [RCV002847284]uncertain significance123259853632598536Human1name
156047039CV2091259single nucleotide variantNM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)Charcot-Marie-Tooth disease type 4 [RCV002886029]uncertain significance123262442332624423Human1name
156099941CV2152998single nucleotide variantNM_001370298.3(FGD4):c.2259A>C (p.Gln753His)Charcot-Marie-Tooth disease type 4 [RCV003021012]uncertain significance123263363532633635Human1name
156323891CV2173729single nucleotide variantNM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)Charcot-Marie-Tooth disease type 4 [RCV003046800]uncertain significance123260802432608024Human1name
11350631CV237130single nucleotide variantNM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly)Charcot-Marie-Tooth disease type 4 [RCV000654083]|Inborn genetic diseases [RCV002399802]|not provided [RCV000224105]uncertain significance123262499532624995Human2name
156064886CV2376035single nucleotide variantNM_001370298.3(FGD4):c.2047A>C (p.Thr683Pro)Inborn genetic diseases [RCV002693639]uncertain significance123262565432625654Human1name
11523481CV244822single nucleotide variantNM_001370298.3(FGD4):c.1689A>C (p.Glu563Asp)not provided [RCV000236012]uncertain significance123261122332611223Humanname
11523075CV244823single nucleotide variantNM_001370298.3(FGD4):c.1759A>G (p.Met587Val)Charcot-Marie-Tooth disease type 4 [RCV000559732]|Inborn genetic diseases [RCV002379044]|not specified [RCV000235299]uncertain significance123261970732619707Human2name
11523832CV244824single nucleotide variantNM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)Charcot-Marie-Tooth disease type 4 [RCV000263275]|Charcot-Marie-Tooth disease type 4H [RCV001094182]|Inborn genetic diseases [RCV002401924]|not provided [RCV000236629]uncertain significance123262572932625729Human3name
11523184CV244825single nucleotide variantNM_001370298.3(FGD4):c.2123C>A (p.Pro708His)Charcot-Marie-Tooth disease type 4 [RCV000236221]|Inborn genetic diseases [RCV002401918]|not provided [RCV000235513]uncertain significance123262573032625730Human2name
11632697CV264610single nucleotide variantNM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter)Charcot-Marie-Tooth disease type 4H [RCV003988839]|not provided [RCV000277726]pathogenic123261127432611274Human1name
401723224CV2674748single nucleotide variantNM_001370298.3(FGD4):c.1588G>A (p.Ala530Thr)Inborn genetic diseases [RCV003245099]uncertain significance123261082032610820Human1name
401879872CV2769791single nucleotide variantNM_001370298.3(FGD4):c.1118T>C (p.Leu373Pro)Inborn genetic diseases [RCV003364432]uncertain significance123260129432601294Human1name
401898452CV2787929single nucleotide variantNM_001370298.3(FGD4):c.2030T>C (p.Ile677Thr)Inborn genetic diseases [RCV003376631]uncertain significance123262505232625052Human1name
405246422CV2964812single nucleotide variantNM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)Charcot-Marie-Tooth disease type 4 [RCV003745994]uncertain significance123261115332611153Human1name
11601946CV316840single nucleotide variantNM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)Charcot-Marie-Tooth disease type 4 [RCV000654188]|Charcot-Marie-Tooth disease type 4H [RCV001094111]uncertain significance123261114332611143Human2name
405267735CV3186899single nucleotide variantNM_001370298.3(FGD4):c.1699C>T (p.Leu567Phe)not provided [RCV003886982]uncertain significance123261123332611233Humanname
11654780CV324404single nucleotide variantNM_001370298.3(FGD4):c.2225G>A (p.Gly742Asp)Charcot-Marie-Tooth disease type 4H [RCV000320807]uncertain significance123263360132633601Human1name
405759316CV3253534single nucleotide variantNM_001370298.3(FGD4):c.1952A>G (p.Lys651Arg)Inborn genetic diseases [RCV004393968]uncertain significance123262445132624451Human1name
405759323CV3253535single nucleotide variantNM_001370298.3(FGD4):c.2194G>A (p.Asp732Asn)Inborn genetic diseases [RCV004393969]uncertain significance123263357032633570Human1name
405759327CV3253536single nucleotide variantNM_001370298.3(FGD4):c.2458G>A (p.Val820Ile)Inborn genetic diseases [RCV004393970]uncertain significance123264027932640279Human1name
407501299CV3439085single nucleotide variantNM_001370298.3(FGD4):c.2564A>G (p.His855Arg)Inborn genetic diseases [RCV004623227]uncertain significance123264038532640385Human1name
407501301CV3439086single nucleotide variantNM_001370298.3(FGD4):c.1102G>T (p.Val368Leu)Inborn genetic diseases [RCV004623228]uncertain significance123260127832601278Human1name
596927426CV3532588single nucleotide variantNM_001370298.3(FGD4):c.1802A>G (p.Lys601Arg)not provided [RCV004778686]uncertain significance123261975032619750Humanname
597653528CV3672593single nucleotide variantNM_001370298.3(FGD4):c.1042G>A (p.Ala348Thr)Inborn genetic diseases [RCV004975055]uncertain significance123259852732598527Human1name
597653535CV3672594single nucleotide variantNM_001370298.3(FGD4):c.2690C>T (p.Pro897Leu)Inborn genetic diseases [RCV004975056]uncertain significance123264051132640511Human1name
597653545CV3672596single nucleotide variantNM_001370298.3(FGD4):c.2421C>A (p.Asp807Glu)Inborn genetic diseases [RCV004975058]uncertain significance123263876232638762Human1name
597975689CV3799295single nucleotide variantNM_001370298.3(FGD4):c.1810G>T (p.Val604Phe)Charcot-Marie-Tooth disease type 4 [RCV005144691]uncertain significance123261975832619758Human1name
597856212CV3822108single nucleotide variantNM_001370298.3(FGD4):c.1602G>C (p.Met534Ile)Charcot-Marie-Tooth disease type 4 [RCV005174406]uncertain significance123261083432610834Human1name
597944463CV3847887single nucleotide variantNM_001370298.3(FGD4):c.1462C>T (p.Arg488Trp)Charcot-Marie-Tooth disease type 4 [RCV005188616]uncertain significance123260801432608014Human1name
597949081CV3848820single nucleotide variantNM_001370298.3(FGD4):c.2452C>T (p.Gln818Ter)Charcot-Marie-Tooth disease type 4 [RCV005189757]pathogenic123263879332638793Human1name
597919478CV3861700single nucleotide variantNM_001370298.3(FGD4):c.1993G>T (p.Glu665Ter)Charcot-Marie-Tooth disease type 4 [RCV005204856]pathogenic123262501532625015Human1name
598226560CV3894396single nucleotide variantNM_001370298.3(FGD4):c.1134C>G (p.Asn378Lys)not provided [RCV005257639]uncertain significance123260131032601310Humanname
598241197CV3959389single nucleotide variantNM_001370298.3(FGD4):c.2281A>C (p.Ser761Arg)Inborn genetic diseases [RCV005344305]uncertain significance123263365732633657Human1name
598271994CV3959390single nucleotide variantNM_001370298.3(FGD4):c.2091T>A (p.Asn697Lys)Inborn genetic diseases [RCV005327865]uncertain significance123262569832625698Human1name
598241202CV3959391single nucleotide variantNM_001370298.3(FGD4):c.1390G>C (p.Val464Leu)Inborn genetic diseases [RCV005344306]uncertain significance123260230332602303Human1name
12885645CV399125single nucleotide variantNM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)Charcot-Marie-Tooth disease type 4 [RCV000465770]pathogenic123262574732625747Human1name
12880673CV399670single nucleotide variantNM_001370298.3(FGD4):c.1657A>G (p.Ile553Val)Charcot-Marie-Tooth disease type 4 [RCV000456452]uncertain significance123261119132611191Human1name
12895603CV408631single nucleotide variantNM_001370298.3(FGD4):c.2587G>T (p.Glu863Ter)not provided [RCV000487096]likely pathogenic123264040832640408Humanname
12912948CV421918single nucleotide variantNM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys)Charcot-Marie-Tooth disease type 4 [RCV000654160]|not provided [RCV000493204]uncertain significance123260227932602279Human1name
12912751CV421919single nucleotide variantNM_001370298.3(FGD4):c.1614G>C (p.Lys538Asn)not provided [RCV000492971]uncertain significance123261114832611148Humanname
13435713CV433567single nucleotide variantNM_001370298.3(FGD4):c.1509G>T (p.Leu503Phe)not specified [RCV000505863]uncertain significance123260806132608061Humanname
13481397CV441536single nucleotide variantNM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg)Charcot-Marie-Tooth disease type 4 [RCV001851437]|not specified [RCV000517559]uncertain significance123260796132607961Human1name
13478486CV462125single nucleotide variantNM_001370298.3(FGD4):c.1151C>T (p.Ala384Val)Charcot-Marie-Tooth disease type 4 [RCV000550078]uncertain significance123260132732601327Human1name
13483778CV462129single nucleotide variantNM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln)Charcot-Marie-Tooth disease type 4 [RCV000530020]uncertain significance123260802432608024Human1name
13468884CV463022single nucleotide variantNM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala)Charcot-Marie-Tooth disease type 4 [RCV000544781]uncertain significance123261077832610778Human1name
8604053CV47002single nucleotide variantNM_001370298.3(FGD4):c.1736G>A (p.Arg579His)Charcot-Marie-Tooth disease [RCV000789100]|Charcot-Marie-Tooth disease type 4H [RCV000031999]pathogenic|uncertain significance|not provided123261127032611270Human2name
8604054CV47003single nucleotide variantNM_001370298.3(FGD4):c.2109G>H (p.Met703Ile)Charcot-Marie-Tooth disease type 4H [RCV000032000]pathogenic|not provided123262571632625716Human1name
8604055CV47004single nucleotide variantNM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)Charcot-Marie-Tooth disease [RCV000789104]|Charcot-Marie-Tooth disease type 4 [RCV000695680]|Charcot-Marie-Tooth disease type 4H [RCV000032001]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance123260221732602217Human3name
13625959CV527091single nucleotide variantNM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)Charcot-Marie-Tooth disease type 4 [RCV000654181]|Charcot-Marie-Tooth disease type 4H [RCV001535472]|Inborn genetic diseases [RCV002331272]uncertain significance|not provided123261081832610818Human3name
13625937CV527098single nucleotide variantNM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr)Charcot-Marie-Tooth disease type 4 [RCV000654155]uncertain significance123261120332611203Human1name
13625869CV527099single nucleotide variantNM_001370298.3(FGD4):c.2288A>T (p.Glu763Val)Charcot-Marie-Tooth disease type 4 [RCV000654071]uncertain significance123263366432633664Human1name
13625918CV527105single nucleotide variantNM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn)Charcot-Marie-Tooth disease type 4 [RCV000654130]uncertain significance123264043132640431Human1name
13626026CV527348single nucleotide variantNM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)Charcot-Marie-Tooth disease type 4 [RCV000654264]|Charcot-Marie-Tooth disease type 4H [RCV001114310]|Inborn genetic diseases [RCV002360663]likely benign|uncertain significance123259853132598531Human3name
13625872CV527608single nucleotide variantNM_001370298.3(FGD4):c.1738T>C (p.Tyr580His)Charcot-Marie-Tooth disease type 4 [RCV000654074]uncertain significance123261127232611272Human1name
13625904CV527609single nucleotide variantNM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys)Charcot-Marie-Tooth disease type 4 [RCV000654116]uncertain significance123263868132638681Human1name
13813727CV565426single nucleotide variantNM_001370298.3(FGD4):c.1444A>G (p.Met482Val)Charcot-Marie-Tooth disease type 4 [RCV000704583]uncertain significance123260799632607996Human1name
13821356CV566795single nucleotide variantNM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly)Charcot-Marie-Tooth disease type 4 [RCV000695773]uncertain significance123258246032582460Human1name
13810449CV566799single nucleotide variantNM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr)Charcot-Marie-Tooth disease [RCV001173481]|Charcot-Marie-Tooth disease type 4 [RCV000702608]|Inborn genetic diseases [RCV002442513]uncertain significance123260805432608054Human3name
13813025CV567995single nucleotide variantNM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser)Charcot-Marie-Tooth disease type 4 [RCV000704083]uncertain significance123263874332638743Human1name
13819068CV571785single nucleotide variantNM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly)Charcot-Marie-Tooth disease type 4 [RCV000694112]|Inborn genetic diseases [RCV002422514]uncertain significance123264033332640333Human2name
13805718CV571792single nucleotide variantNM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu)Charcot-Marie-Tooth disease type 4 [RCV000700228]|Inborn genetic diseases [RCV002533586]uncertain significance123264042932640429Human2name
13809452CV577258single nucleotide variantNM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser)Charcot-Marie-Tooth disease type 4 [RCV001315735]|Inborn genetic diseases [RCV004972911]|not provided [RCV000711633]uncertain significance123260806032608060Human2name
13827521CV578500single nucleotide variantNM_001370298.3(FGD4):c.1367G>A (p.Arg456His)Charcot-Marie-Tooth disease type 4H [RCV000714587]uncertain significance123260228032602280Human1name
14396753CV612944single nucleotide variantNM_001370298.3(FGD4):c.2132C>T (p.Ala711Val)Inborn genetic diseases [RCV002397533]|not provided [RCV000761820]uncertain significance123262573932625739Human1name
14699641CV625277single nucleotide variantNM_001370298.3(FGD4):c.2109G>A (p.Met703Ile)Charcot-Marie-Tooth disease [RCV000789101]|Charcot-Marie-Tooth disease type 4H [RCV003447169]uncertain significance123262571632625716Human2name
14699647CV625278single nucleotide variantNM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter)Charcot-Marie-Tooth disease [RCV000789111]|Charcot-Marie-Tooth disease type 4H [RCV003447175]uncertain significance123263355932633559Human2name
14740943CV641067single nucleotide variantNM_001370298.3(FGD4):c.1008G>C (p.Met336Ile)Charcot-Marie-Tooth disease type 4 [RCV000822034]|not provided [RCV000991984]uncertain significance123258246432582464Human1name
14717515CV641068single nucleotide variantNM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln)Charcot-Marie-Tooth disease type 4 [RCV000795492]uncertain significance123259856732598567Human1name
14714393CV641070single nucleotide variantNM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys)Charcot-Marie-Tooth disease type 4 [RCV000794408]uncertain significance123261113732611137Human1name
14740025CV641071single nucleotide variantNM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr)Charcot-Marie-Tooth disease type 4 [RCV000805183]uncertain significance123262505732625057Human1name
14737621CV641072single nucleotide variantNM_001370298.3(FGD4):c.2103G>A (p.Met701Ile)Charcot-Marie-Tooth disease type 4 [RCV000820538]uncertain significance123262571032625710Human1name
14727579CV641073single nucleotide variantNM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser)Charcot-Marie-Tooth disease type 4 [RCV000799703]uncertain significance123262572932625729Human1name
14723015CV641074single nucleotide variantNM_001370298.3(FGD4):c.2345T>C (p.Val782Ala)Charcot-Marie-Tooth disease type 4 [RCV000814167]uncertain significance123263868632638686Human1name
14726612CV641075single nucleotide variantNM_001370298.3(FGD4):c.2506A>G (p.Met836Val)Charcot-Marie-Tooth disease [RCV001173483]|Charcot-Marie-Tooth disease type 4 [RCV000815703]|Charcot-Marie-Tooth disease type 4H [RCV001114408]|Inborn genetic diseases [RCV002422824]|not provided [RCV003480862]uncertain significance123264032732640327Human4name
14712830CV641076single nucleotide variantNM_001370298.3(FGD4):c.2590C>G (p.Leu864Val)Charcot-Marie-Tooth disease type 4 [RCV000793932]uncertain significance123264041132640411Human1name
14708964CV641077single nucleotide variantNM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln)Charcot-Marie-Tooth disease type 4 [RCV000809210]uncertain significance123264041232640412Human1name
14706716CV641078single nucleotide variantNM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg)Charcot-Marie-Tooth disease type 4 [RCV000792083]uncertain significance123264041832640418Human1name
26906768CV839849single nucleotide variantNM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)Charcot-Marie-Tooth disease type 4 [RCV001037627]pathogenic123259850932598509Human1name
26912333CV839851single nucleotide variantNM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)Charcot-Marie-Tooth disease type 4 [RCV001053413]|Charcot-Marie-Tooth disease type 4H [RCV001114311]|not provided [RCV001759791]uncertain significance123260131832601318Human2name
26913399CV839852single nucleotide variantNM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn)Charcot-Marie-Tooth disease type 4 [RCV001040010]uncertain significance123260804332608043Human1name
26905561CV839853single nucleotide variantNM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser)Charcot-Marie-Tooth disease type 4 [RCV001051343]uncertain significance123262505232625052Human1name
26911267CV839854single nucleotide variantNM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg)Charcot-Marie-Tooth disease type 4 [RCV001052963]uncertain significance123262572432625724Human1name
26915210CV839855single nucleotide variantNM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp)Charcot-Marie-Tooth disease type 4 [RCV001055538]|Inborn genetic diseases [RCV004031762]|not provided [RCV001289433]uncertain significance123263366532633665Human2name
26918130CV839857single nucleotide variantNM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu)Charcot-Marie-Tooth disease type 4 [RCV001057572]uncertain significance123264037532640375Human1name
26886541CV839858single nucleotide variantNM_001370298.3(FGD4):c.2560G>T (p.Val854Leu)Charcot-Marie-Tooth disease type 4 [RCV001066133]|not provided [RCV001760041]uncertain significance123264038132640381Human1name
28891455CV859962single nucleotide variantNM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln)Charcot-Marie-Tooth disease type 4 [RCV001366887]|not provided [RCV001092392]pathogenic|uncertain significance123262574832625748Human1name
28911283CV869679single nucleotide variantNM_001370298.3(FGD4):c.1305G>T (p.Met435Ile)Charcot-Marie-Tooth disease type 4H [RCV001110293]uncertain significance123260221832602218Human1name
34890052CV905363single nucleotide variantNM_001370298.3(FGD4):c.2041G>A (p.Val681Ile)Charcot-Marie-Tooth disease [RCV001173482]uncertain significance123262506332625063Human1name
38483676CV926606single nucleotide variantNM_001370298.3(FGD4):c.1454C>A (p.Pro485His)Charcot-Marie-Tooth disease type 4 [RCV001219057]uncertain significance123260800632608006Human1name
38485151CV926607single nucleotide variantNM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp)Charcot-Marie-Tooth disease type 4 [RCV001219747]uncertain significance123261113932611139Human1name
38483022CV926608single nucleotide variantNM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys)Charcot-Marie-Tooth disease type 4 [RCV001218748]uncertain significance123261126932611269Human1name
38490203CV926609single nucleotide variantNM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr)Charcot-Marie-Tooth disease type 4 [RCV001222046]|Inborn genetic diseases [RCV002402682]uncertain significance123262499732624997Human2name
38494135CV926610single nucleotide variantNM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe)Charcot-Marie-Tooth disease type 4 [RCV001224745]uncertain significance123263361932633619Human1name
38470312CV936093single nucleotide variantNM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu)Charcot-Marie-Tooth disease type 4 [RCV001202560]uncertain significance123261120132611201Human1name
38480199CV936094single nucleotide variantNM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln)Charcot-Marie-Tooth disease type 4 [RCV001206294]uncertain significance123261978832619788Human1name
38477317CV947988single nucleotide variantNM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu)Charcot-Marie-Tooth disease type 4 [RCV001233434]uncertain significance123260806632608066Human1name
38495699CV947989single nucleotide variantNM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala)Charcot-Marie-Tooth disease type 4 [RCV001225890]uncertain significance123263362532633625Human1name
38495089CV947990single nucleotide variantNM_001370298.3(FGD4):c.2425C>G (p.Leu809Val)Charcot-Marie-Tooth disease type 4 [RCV001225493]uncertain significance123263876632638766Human1name
41407218CV982822single nucleotide variantNM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg)Charcot-Marie-Tooth disease type 4 [RCV001302063]|not provided [RCV001289432]|not specified [RCV005419071]uncertain significance123262498332624983Human1name
41407219CV982823single nucleotide variantNM_001370298.3(FGD4):c.2509C>A (p.Pro837Thr)Inborn genetic diseases [RCV002418879]|not provided [RCV001289434]uncertain significance123264033032640330Human1name
126761705CV995172single nucleotide variantNM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu)Charcot-Marie-Tooth disease type 4 [RCV001300174]|Inborn genetic diseases [RCV002541916]uncertain significance123262443532624435Human2name
126755086CV995173single nucleotide variantNM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg)Charcot-Marie-Tooth disease type 4 [RCV001298273]uncertain significance123262577132625771Human1name
150495538CV1282979insertionNM_001370298.3(FGD4):c.2046+221_2046+222insTAnot provided [RCV001717401]benign123262528932625290Humanname
401931977CV2806844deletionNM_001370298.3(FGD4):c.875_878del (p.Ser292fs)not provided [RCV003391698]pathogenic123258232932582332Humanname
38458362CV936091microsatelliteNM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del)Charcot-Marie-Tooth disease type 4 [RCV001211388]uncertain significance123258206332582065Humanname
156307146CV1931475deletionNM_001370298.3(FGD4):c.900_902del (p.Val301del)Charcot-Marie-Tooth disease type 4 [RCV002647949]uncertain significance123258235632582358Human1name
408394628CV3521548microsatelliteNM_001370298.3(FGD4):c.1685AAG[1] (p.Glu563del)Charcot-Marie-Tooth disease type 4H [RCV004764346]pathogenic|uncertain significance123261121932611221Humanname
13807252CV567994microsatelliteNM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del)Charcot-Marie-Tooth disease type 4 [RCV000686620]uncertain significance123261117832611180Humanname
26907360CV851501indelNM_001370298.3(FGD4):c.2244_2313+238delinsGGAGGCharcot-Marie-Tooth disease type 4 [RCV001052182]likely pathogenic123263362032633927Humanname
127269447CV1062603deletionNM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs)Charcot-Marie-Tooth disease type 4 [RCV001389522]pathogenic123263362732633628Human1name
150338629CV1174320deletionNM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs)Charcot-Marie-Tooth disease type 4 [RCV005057496]|Charcot-Marie-Tooth disease type 4H [RCV001542680]pathogenic|likely pathogenic123259858032598584Human2name
151872541CV1366888deletionNM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs)Charcot-Marie-Tooth disease type 4 [RCV001960633]pathogenic123264040232640405Human1name
8555923CV16052microsatelliteNM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)Charcot-Marie-Tooth disease [RCV000789110]|Charcot-Marie-Tooth disease type 4H [RCV000001068]pathogenic|conflicting interpretations of pathogenicity|uncertain significance123262505932625060Humanname
11560133CV260015microsatelliteNM_001370298.3(FGD4):c.1808_1809del (p.Thr603fs)Charcot-Marie-Tooth disease type 4 [RCV005090295]|not provided [RCV000255773]pathogenic123261975432619755Humanname
401894502CV2788249deletionNM_001370298.3(FGD4):c.2492_2493del (p.Tyr831fs)Inborn genetic diseases [RCV003371582]uncertain significance123264031232640313Human1name
597913671CV3778741microsatelliteNM_001370298.3(FGD4):c.1620_1621del (p.Leu541fs)Charcot-Marie-Tooth disease type 4 [RCV005129086]pathogenic123261115232611153Humanname
597841547CV3825539duplicationNM_001370298.3(FGD4):c.1073_1074dup (p.Val359fs)Charcot-Marie-Tooth disease type 4 [RCV005172222]pathogenic123259855632598557Human1name
12894936CV408630microsatelliteNM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)Charcot-Marie-Tooth disease [RCV000789112]|Charcot-Marie-Tooth disease type 4 [RCV001047299]|Charcot-Marie-Tooth disease type 4H [RCV003447139]|not provided [RCV000484688]pathogenic|uncertain significance123263366132633665Humanname
13471153CV441535deletionNM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs)Charcot-Marie-Tooth disease type 4H [RCV002289701]|not provided [RCV000518484]pathogenic|likely pathogenic123260227532602276Human1name
13477531CV444975microsatelliteNM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)Charcot-Marie-Tooth disease type 4 [RCV003581683]|not provided [RCV000520422]pathogenic|likely pathogenic123263366032633661Humanname
13625943CV527368microsatelliteNM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs)Charcot-Marie-Tooth disease type 4 [RCV000654164]pathogenic123263365032633651Humanname
14699646CV625279deletionNM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs)Charcot-Marie-Tooth disease [RCV000789109]|Charcot-Marie-Tooth disease type 4H [RCV003447174]uncertain significance123263367032633673Human2name
14699644CV625280deletionNM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs)Charcot-Marie-Tooth disease [RCV000789107]|Charcot-Marie-Tooth disease type 4H [RCV003447172]uncertain significance123263367532633679Human2name
156188482CV2148537deletionNM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)Charcot-Marie-Tooth disease type 4 [RCV003005927]uncertain significance123263366632633668Human1name
25316753CV804743deletionNM_001370298.3(FGD4):c.1936_1938del (p.Lys646del)Charcot-Marie-Tooth disease type 4H [RCV001007470]uncertain significance123262443532624437Human1name
156414048CV1915635indelNM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)Charcot-Marie-Tooth disease type 4 [RCV002588376]uncertain significance123258230132582302Humanname
14713045CV641065deletionNM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del)Charcot-Marie-Tooth disease type 4 [RCV000810469]|Inborn genetic diseases [RCV002319585]|not provided [RCV004792505]uncertain significance123258217332582187Human2name
26916961CV839841duplicationNM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly)Charcot-Marie-Tooth disease type 4 [RCV001056687]|Inborn genetic diseases [RCV002374933]uncertain significance123257644432576445Human2name
405085278CV2980187deletionNM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)Charcot-Marie-Tooth disease type 4 [RCV003744299]pathogenic123260804632608049Human1name