| 8555922 | CV16051 | single nucleotide variant | FGD4, 893T-G | Charcot-Marie-Tooth disease, type 4H [RCV000001067] | pathogenic|likely pathogenic | | | | Human | | name |
| 11610123 | CV316844 | single nucleotide variant | NM_001370298.3(FGD4):c.*22G>A | Charcot-Marie-Tooth disease type 4H [RCV000377512]|not provided [RCV001569529] | benign|likely benign | 12 | 32640555 | 32640555 | Human | 1 | name |
| 598205302 | CV3896812 | single nucleotide variant | NM_001370298.3(FGD4):c.-35G>T | Charcot-Marie-Tooth disease [RCV005356990] | uncertain significance | 12 | 32399759 | 32399759 | Human | 1 | name |
| 28872130 | CV869681 | single nucleotide variant | NM_001370298.3(FGD4):c.*27G>A | Charcot-Marie-Tooth disease type 4H [RCV001114410]|not provided [RCV001593275] | benign|likely benign | 12 | 32640560 | 32640560 | Human | 1 | name |
| 28872133 | CV869682 | single nucleotide variant | NM_001370298.3(FGD4):c.*69T>C | Charcot-Marie-Tooth disease type 4H [RCV001114411] | uncertain significance | 12 | 32640602 | 32640602 | Human | 1 | name |
| 11658045 | CV316845 | single nucleotide variant | NM_001370298.3(FGD4):c.*762G>T | Charcot-Marie-Tooth disease type 4H [RCV000346003] | uncertain significance | 12 | 32641295 | 32641295 | Human | 1 | name |
| 11610649 | CV316851 | single nucleotide variant | NM_001370298.3(FGD4):c.*792A>T | Charcot-Marie-Tooth disease type 4H [RCV000384141]|not provided [RCV004706938] | benign|likely benign | 12 | 32641325 | 32641325 | Human | 1 | name |
| 11613247 | CV330501 | single nucleotide variant | NM_001370298.3(FGD4):c.*290G>A | Charcot-Marie-Tooth disease type 4H [RCV000266834]|not provided [RCV001582946] | benign|likely benign|uncertain significance | 12 | 32640823 | 32640823 | Human | 1 | name |
| 11655251 | CV330511 | single nucleotide variant | NM_001370298.3(FGD4):c.*411A>G | Charcot-Marie-Tooth disease type 4H [RCV000324248] | uncertain significance | 12 | 32640944 | 32640944 | Human | 1 | name |
| 11661921 | CV331872 | single nucleotide variant | NM_001370298.3(FGD4):c.*497T>C | Charcot-Marie-Tooth disease type 4H [RCV000381133] | uncertain significance | 12 | 32641030 | 32641030 | Human | 1 | name |
| 11649675 | CV331878 | single nucleotide variant | NM_001370298.3(FGD4):c.*734G>A | Charcot-Marie-Tooth disease type 4H [RCV000288674] | uncertain significance | 12 | 32641267 | 32641267 | Human | 1 | name |
| 11616182 | CV331879 | single nucleotide variant | NM_001370298.3(FGD4):c.*795G>A | Charcot-Marie-Tooth disease type 4H [RCV000292208] | uncertain significance | 12 | 32641328 | 32641328 | Human | 1 | name |
| 28872135 | CV869683 | single nucleotide variant | NM_001370298.3(FGD4):c.*131A>G | Charcot-Marie-Tooth disease type 4H [RCV001114412] | uncertain significance | 12 | 32640664 | 32640664 | Human | 1 | name |
| 28911330 | CV869684 | single nucleotide variant | NM_001370298.3(FGD4):c.*167G>A | Charcot-Marie-Tooth disease type 4H [RCV001110378] | likely benign | 12 | 32640700 | 32640700 | Human | 1 | name |
| 28911331 | CV869685 | single nucleotide variant | NM_001370298.3(FGD4):c.*368T>C | Charcot-Marie-Tooth disease type 4H [RCV001110379] | uncertain significance | 12 | 32640901 | 32640901 | Human | 1 | name |
| 28911332 | CV869686 | single nucleotide variant | NM_001370298.3(FGD4):c.*712C>T | Charcot-Marie-Tooth disease type 4H [RCV001110380] | uncertain significance | 12 | 32641245 | 32641245 | Human | 1 | name |
| 126909069 | CV1047911 | single nucleotide variant | NM_001370298.3(FGD4):c.503+3A>C | Charcot-Marie-Tooth disease type 4 [RCV001368217] | uncertain significance | 12 | 32576452 | 32576452 | Human | 1 | name |
| 155266305 | CV1699749 | single nucleotide variant | NM_001370298.3(FGD4):c.166+1G>A | not specified [RCV002281851] | uncertain significance | 12 | 32399960 | 32399960 | Human | | name |
| 156396730 | CV1985235 | single nucleotide variant | NM_001370298.3(FGD4):c.504-9A>G | Charcot-Marie-Tooth disease type 4 [RCV002635548] | likely benign | 12 | 32581951 | 32581951 | Human | 1 | name |
| 405084892 | CV2983349 | single nucleotide variant | NM_001370298.3(FGD4):c.504-2A>C | Charcot-Marie-Tooth disease type 4 [RCV003744269] | likely pathogenic | 12 | 32581958 | 32581958 | Human | 1 | name |
| 405096202 | CV3134962 | single nucleotide variant | NM_001370298.3(FGD4):c.504-8T>C | Charcot-Marie-Tooth disease type 4 [RCV003835114] | likely benign | 12 | 32581952 | 32581952 | Human | 1 | name |
| 11612370 | CV316853 | single nucleotide variant | NM_001370298.3(FGD4):c.*1007G>A | Charcot-Marie-Tooth disease type 4H [RCV000407793] | benign|likely benign | 12 | 32641540 | 32641540 | Human | 1 | name |
| 11606693 | CV316854 | single nucleotide variant | NM_001370298.3(FGD4):c.*1133A>C | Charcot-Marie-Tooth disease type 4H [RCV000334527]|not provided [RCV004706939] | benign | 12 | 32641666 | 32641666 | Human | 1 | name |
| 11645323 | CV316856 | single nucleotide variant | NM_001370298.3(FGD4):c.*1354A>G | Charcot-Marie-Tooth disease type 4H [RCV000264730] | uncertain significance | 12 | 32641887 | 32641887 | Human | 1 | name |
| 11662128 | CV316857 | single nucleotide variant | NM_001370298.3(FGD4):c.*1704C>G | Charcot-Marie-Tooth disease type 4H [RCV000382917] | uncertain significance | 12 | 32642237 | 32642237 | Human | 1 | name |
| 11655950 | CV316859 | single nucleotide variant | NM_001370298.3(FGD4):c.*1781G>A | Charcot-Marie-Tooth disease type 4H [RCV000329526] | uncertain significance | 12 | 32642314 | 32642314 | Human | 1 | name |
| 11649938 | CV316860 | single nucleotide variant | NM_001370298.3(FGD4):c.*3482G>T | Charcot-Marie-Tooth disease type 4H [RCV000290091] | uncertain significance | 12 | 32644015 | 32644015 | Human | 1 | name |
| 11608542 | CV316862 | deletion | NM_001370298.3(FGD4):c.*3920del | Charcot-Marie-Tooth disease type 4 [RCV000356483] | likely benign | 12 | 32644453 | 32644453 | Human | 1 | name |
| 11608287 | CV316863 | single nucleotide variant | NM_001370298.3(FGD4):c.*4211T>C | Charcot-Marie-Tooth disease type 4H [RCV000353088] | benign|likely benign | 12 | 32644744 | 32644744 | Human | 1 | name |
| 11606478 | CV316865 | duplication | NM_001370298.3(FGD4):c.*4369dup | Charcot-Marie-Tooth disease type 4 [RCV000332236] | benign | 12 | 32644888 | 32644889 | Human | 1 | name |
| 11600319 | CV316867 | single nucleotide variant | NM_001370298.3(FGD4):c.*4454G>A | Charcot-Marie-Tooth disease type 4H [RCV000273032]|not provided [RCV003221905] | benign|uncertain significance | 12 | 32644987 | 32644987 | Human | 1 | name |
| 11599910 | CV316868 | single nucleotide variant | NM_001370298.3(FGD4):c.*4756A>G | Charcot-Marie-Tooth disease type 4H [RCV000269306] | uncertain significance | 12 | 32645289 | 32645289 | Human | 1 | name |
| 11648975 | CV316869 | single nucleotide variant | NM_001370298.3(FGD4):c.*4862C>A | Charcot-Marie-Tooth disease type 4H [RCV000284614] | uncertain significance | 12 | 32645395 | 32645395 | Human | 1 | name |
| 11658773 | CV316873 | single nucleotide variant | NM_001370298.3(FGD4):c.*5152C>T | Charcot-Marie-Tooth disease type 4H [RCV000351580] | uncertain significance | 12 | 32645685 | 32645685 | Human | 1 | name |
| 11612294 | CV316874 | single nucleotide variant | NM_001370298.3(FGD4):c.*5177G>A | Charcot-Marie-Tooth disease type 4 [RCV000406658] | uncertain significance | 12 | 32645710 | 32645710 | Human | 1 | name |
| 11599751 | CV316878 | single nucleotide variant | NM_001370298.3(FGD4):c.*5484T>C | Charcot-Marie-Tooth disease type 4 [RCV000268400] | uncertain significance | 12 | 32646017 | 32646017 | Human | 1 | name |
| 11618525 | CV324413 | single nucleotide variant | NM_001370298.3(FGD4):c.*1068A>G | Charcot-Marie-Tooth disease type 4H [RCV000314632] | benign|uncertain significance | 12 | 32641601 | 32641601 | Human | 1 | name |
| 11652187 | CV324415 | single nucleotide variant | NM_001370298.3(FGD4):c.*1356T>G | Charcot-Marie-Tooth disease type 4H [RCV000303404] | uncertain significance | 12 | 32641889 | 32641889 | Human | 1 | name |
| 11613410 | CV324416 | single nucleotide variant | NM_001370298.3(FGD4):c.*1485T>C | Charcot-Marie-Tooth disease type 4H [RCV000268179] | uncertain significance | 12 | 32642018 | 32642018 | Human | 1 | name |
| 11656424 | CV324417 | single nucleotide variant | NM_001370298.3(FGD4):c.*1908G>C | Charcot-Marie-Tooth disease type 4H [RCV000333059] | uncertain significance | 12 | 32642441 | 32642441 | Human | 1 | name |
| 11614717 | CV324419 | single nucleotide variant | NM_001370298.3(FGD4):c.*2026A>G | Charcot-Marie-Tooth disease type 4H [RCV000279095] | uncertain significance | 12 | 32642559 | 32642559 | Human | 1 | name |
| 11615180 | CV324422 | single nucleotide variant | NM_001370298.3(FGD4):c.*2374G>T | Charcot-Marie-Tooth disease type 4H [RCV000282828] | uncertain significance | 12 | 32642907 | 32642907 | Human | 1 | name |
| 11620701 | CV324427 | single nucleotide variant | NM_001370298.3(FGD4):c.*2462C>A | Charcot-Marie-Tooth disease type 4H [RCV000340161] | uncertain significance | 12 | 32642995 | 32642995 | Human | 1 | name |
| 11625866 | CV324431 | single nucleotide variant | NM_001370298.3(FGD4):c.*2537C>A | Charcot-Marie-Tooth disease type 4H [RCV000403721] | benign|likely benign | 12 | 32643070 | 32643070 | Human | 1 | name |
| 11622256 | CV324432 | single nucleotide variant | NM_001370298.3(FGD4):c.*3044T>C | Charcot-Marie-Tooth disease type 4H [RCV000358323] | uncertain significance | 12 | 32643577 | 32643577 | Human | 1 | name |
| 11620191 | CV324433 | deletion | NM_001370298.3(FGD4):c.*3148del | Charcot-Marie-Tooth disease type 4 [RCV000333825] | benign | 12 | 32643670 | 32643670 | Human | 1 | name |
| 11624598 | CV324442 | single nucleotide variant | NM_001370298.3(FGD4):c.*3150A>G | Charcot-Marie-Tooth disease type 4H [RCV000388276] | uncertain significance | 12 | 32643683 | 32643683 | Human | 1 | name |
| 11662299 | CV324445 | single nucleotide variant | NM_001370298.3(FGD4):c.*3438C>T | Charcot-Marie-Tooth disease type 4H [RCV000384661] | uncertain significance | 12 | 32643971 | 32643971 | Human | 1 | name |
| 11614493 | CV324447 | single nucleotide variant | NM_001370298.3(FGD4):c.*4268A>G | Charcot-Marie-Tooth disease type 4H [RCV000277220] | uncertain significance | 12 | 32644801 | 32644801 | Human | 1 | name |
| 11655267 | CV324449 | duplication | NM_001370298.3(FGD4):c.*4772dup | Charcot-Marie-Tooth disease type 4 [RCV000324329]|not provided [RCV004693100] | uncertain significance | 12 | 32645293 | 32645294 | Human | 1 | name |
| 11657285 | CV324458 | single nucleotide variant | NM_001370298.3(FGD4):c.*4925A>T | Charcot-Marie-Tooth disease type 4H [RCV000339954] | uncertain significance | 12 | 32645458 | 32645458 | Human | 1 | name |
| 11618147 | CV324459 | single nucleotide variant | NM_001370298.3(FGD4):c.*5198G>A | Charcot-Marie-Tooth disease type 4H [RCV000310944]|not provided [RCV004706951] | benign | 12 | 32645731 | 32645731 | Human | 1 | name |
| 11617014 | CV330520 | single nucleotide variant | NM_001370298.3(FGD4):c.*1160G>A | Charcot-Marie-Tooth disease type 4H [RCV000299996] | uncertain significance | 12 | 32641693 | 32641693 | Human | 1 | name |
| 11622467 | CV330525 | single nucleotide variant | NM_001370298.3(FGD4):c.*1454A>G | Charcot-Marie-Tooth disease type 4H [RCV000360536]|not provided [RCV004708253] | benign | 12 | 32641987 | 32641987 | Human | 1 | name |
| 11613865 | CV330532 | single nucleotide variant | NM_001370298.3(FGD4):c.*1723C>T | Charcot-Marie-Tooth disease type 4H [RCV000272086]|not provided [RCV004706942] | benign|likely benign | 12 | 32642256 | 32642256 | Human | 1 | name |
| 11624481 | CV330549 | single nucleotide variant | NM_001370298.3(FGD4):c.*1828A>T | Charcot-Marie-Tooth disease type 4H [RCV000386428]|not provided [RCV004708254] | benign|likely benign | 12 | 32642361 | 32642361 | Human | 1 | name |
| 11620432 | CV330550 | single nucleotide variant | NM_001370298.3(FGD4):c.*2103A>G | Charcot-Marie-Tooth disease type 4H [RCV000336679] | likely benign|uncertain significance | 12 | 32642636 | 32642636 | Human | 1 | name |
| 11617530 | CV330552 | single nucleotide variant | NM_001370298.3(FGD4):c.*2638A>G | Charcot-Marie-Tooth disease type 4H [RCV000305266] | likely benign|uncertain significance | 12 | 32643171 | 32643171 | Human | 1 | name |
| 11621964 | CV330563 | single nucleotide variant | NM_001370298.3(FGD4):c.*3130G>A | Charcot-Marie-Tooth disease type 4H [RCV000354721]|not provided [RCV004706944] | benign|likely benign | 12 | 32643663 | 32643663 | Human | 1 | name |
| 11612488 | CV330566 | single nucleotide variant | NM_001370298.3(FGD4):c.*3130G>T | Charcot-Marie-Tooth disease type 4H [RCV000259808]|not provided [RCV004706945] | benign|likely benign | 12 | 32643663 | 32643663 | Human | 1 | name |
| 11616316 | CV330567 | single nucleotide variant | NM_001370298.3(FGD4):c.*3340A>C | Charcot-Marie-Tooth disease type 4H [RCV000293762]|not provided [RCV004706946] | benign|uncertain significance | 12 | 32643873 | 32643873 | Human | 1 | name |
| 11626118 | CV330571 | single nucleotide variant | NM_001370298.3(FGD4):c.*3676A>G | Charcot-Marie-Tooth disease type 4H [RCV000407044]|not provided [RCV004703632] | likely benign|uncertain significance | 12 | 32644209 | 32644209 | Human | 1 | name |
| 11651918 | CV330574 | single nucleotide variant | NM_001370298.3(FGD4):c.*3905A>G | Charcot-Marie-Tooth disease type 4H [RCV000301548] | uncertain significance | 12 | 32644438 | 32644438 | Human | 1 | name |
| 11616827 | CV330586 | single nucleotide variant | NM_001370298.3(FGD4):c.*4128C>T | Charcot-Marie-Tooth disease type 4H [RCV000298156] | benign|likely benign | 12 | 32644661 | 32644661 | Human | 1 | name |
| 11623053 | CV330594 | single nucleotide variant | NM_001370298.3(FGD4):c.*4438A>G | Charcot-Marie-Tooth disease type 4H [RCV000367614]|not provided [RCV004706949] | benign | 12 | 32644971 | 32644971 | Human | 1 | name |
| 11619673 | CV330596 | single nucleotide variant | NM_001370298.3(FGD4):c.*4497G>A | Charcot-Marie-Tooth disease type 4H [RCV000328028] | likely benign|uncertain significance | 12 | 32645030 | 32645030 | Human | 1 | name |
| 11623931 | CV330597 | single nucleotide variant | NM_001370298.3(FGD4):c.*4831C>T | Charcot-Marie-Tooth disease type 4H [RCV000379049] | likely benign|uncertain significance | 12 | 32645364 | 32645364 | Human | 1 | name |
| 11620382 | CV330604 | single nucleotide variant | NM_001370298.3(FGD4):c.*4991A>G | Charcot-Marie-Tooth disease type 4H [RCV000336307]|not provided [RCV004708255] | benign | 12 | 32645524 | 32645524 | Human | 1 | name |
| 11654200 | CV330610 | single nucleotide variant | NM_001370298.3(FGD4):c.*5072A>G | Charcot-Marie-Tooth disease type 4H [RCV000315564] | uncertain significance | 12 | 32645605 | 32645605 | Human | 1 | name |
| 11617749 | CV330614 | single nucleotide variant | NM_001370298.3(FGD4):c.*5309C>T | Charcot-Marie-Tooth disease type 4H [RCV000307549] | uncertain significance | 12 | 32645842 | 32645842 | Human | 1 | name |
| 11658532 | CV331880 | single nucleotide variant | NM_001370298.3(FGD4):c.*1006C>T | Charcot-Marie-Tooth disease type 4H [RCV000349592] | uncertain significance | 12 | 32641539 | 32641539 | Human | 1 | name |
| 11625779 | CV331882 | single nucleotide variant | NM_001370298.3(FGD4):c.*1148C>T | Charcot-Marie-Tooth disease type 4H [RCV000402828]|not provided [RCV004706940] | benign|likely benign | 12 | 32641681 | 32641681 | Human | 1 | name |
| 11622183 | CV331884 | single nucleotide variant | NM_001370298.3(FGD4):c.*1274G>A | Charcot-Marie-Tooth disease type 4H [RCV000357163] | uncertain significance | 12 | 32641807 | 32641807 | Human | 1 | name |
| 11619458 | CV331890 | single nucleotide variant | NM_001370298.3(FGD4):c.*1492T>G | Charcot-Marie-Tooth disease type 4H [RCV000325578]|not provided [RCV004706941] | benign | 12 | 32642025 | 32642025 | Human | 1 | name |
| 11650727 | CV331891 | single nucleotide variant | NM_001370298.3(FGD4):c.*1866T>G | Charcot-Marie-Tooth disease type 4H [RCV000294455] | uncertain significance | 12 | 32642399 | 32642399 | Human | 1 | name |
| 11624777 | CV331894 | single nucleotide variant | NM_001370298.3(FGD4):c.*1954A>G | Charcot-Marie-Tooth disease type 4H [RCV000389845]|not provided [RCV004706943] | benign | 12 | 32642487 | 32642487 | Human | 1 | name |
| 11624834 | CV331898 | single nucleotide variant | NM_001370298.3(FGD4):c.*2203T>C | Charcot-Marie-Tooth disease type 4H [RCV000391491] | benign|uncertain significance | 12 | 32642736 | 32642736 | Human | 1 | name |
| 11622614 | CV331915 | single nucleotide variant | NM_001370298.3(FGD4):c.*2813C>T | Charcot-Marie-Tooth disease type 4H [RCV000362340] | uncertain significance | 12 | 32643346 | 32643346 | Human | 1 | name |
| 11652217 | CV331918 | single nucleotide variant | NM_001370298.3(FGD4):c.*3037C>A | Charcot-Marie-Tooth disease type 4H [RCV000303565] | uncertain significance | 12 | 32643570 | 32643570 | Human | 1 | name |
| 11619857 | CV331934 | single nucleotide variant | NM_001370298.3(FGD4):c.*3367G>T | Charcot-Marie-Tooth disease type 4H [RCV000330072] | likely benign|uncertain significance | 12 | 32643900 | 32643900 | Human | 1 | name |
| 11621156 | CV331937 | single nucleotide variant | NM_001370298.3(FGD4):c.*3630T>C | Charcot-Marie-Tooth disease type 4H [RCV000345280] | benign|likely benign | 12 | 32644163 | 32644163 | Human | 1 | name |
| 11615514 | CV331938 | single nucleotide variant | NM_001370298.3(FGD4):c.*3770G>T | Charcot-Marie-Tooth disease type 4H [RCV000286713]|not provided [RCV004706947] | benign | 12 | 32644303 | 32644303 | Human | 1 | name |
| 11657508 | CV331954 | single nucleotide variant | NM_001370298.3(FGD4):c.*3814A>G | Charcot-Marie-Tooth disease type 4H [RCV000341727] | uncertain significance | 12 | 32644347 | 32644347 | Human | 1 | name |
| 11626017 | CV331958 | single nucleotide variant | NM_001370298.3(FGD4):c.*4063A>G | Charcot-Marie-Tooth disease type 4H [RCV000405557]|not provided [RCV004706948] | benign|likely benign | 12 | 32644596 | 32644596 | Human | 1 | name |
| 11624174 | CV331959 | single nucleotide variant | NM_001370298.3(FGD4):c.*4652T>C | Charcot-Marie-Tooth disease type 4H [RCV000382612] | benign|likely benign | 12 | 32645185 | 32645185 | Human | 1 | name |
| 11623671 | CV331971 | single nucleotide variant | NM_001370298.3(FGD4):c.*4956T>A | Charcot-Marie-Tooth disease type 4H [RCV000375923]|not provided [RCV004706950] | benign|likely benign | 12 | 32645489 | 32645489 | Human | 1 | name |
| 11614966 | CV331973 | single nucleotide variant | NM_001370298.3(FGD4):c.*4977G>C | Charcot-Marie-Tooth disease type 4H [RCV000281300] | uncertain significance | 12 | 32645510 | 32645510 | Human | 1 | name |
| 11664645 | CV331974 | single nucleotide variant | NM_001370298.3(FGD4):c.*5020G>C | Charcot-Marie-Tooth disease type 4H [RCV000407905] | uncertain significance | 12 | 32645553 | 32645553 | Human | 1 | name |
| 11660293 | CV331981 | single nucleotide variant | NM_001370298.3(FGD4):c.*5223G>A | Charcot-Marie-Tooth disease type 4H [RCV000365576] | uncertain significance | 12 | 32645756 | 32645756 | Human | 1 | name |
| 11613744 | CV331986 | single nucleotide variant | NM_001370298.3(FGD4):c.*5244G>A | Charcot-Marie-Tooth disease type 4H [RCV000271092] | likely benign|uncertain significance | 12 | 32645777 | 32645777 | Human | 1 | name |
| 11659914 | CV331991 | single nucleotide variant | NM_001370298.3(FGD4):c.*5329G>C | Charcot-Marie-Tooth disease type 4H [RCV000362290] | uncertain significance | 12 | 32645862 | 32645862 | Human | 1 | name |
| 12741196 | CV360089 | single nucleotide variant | NM_001370298.3(FGD4):c.319+1G>A | not specified [RCV000414379] | uncertain significance | 12 | 32564290 | 32564290 | Human | | name |
| 28869427 | CV869687 | single nucleotide variant | NM_001370298.3(FGD4):c.*1259A>G | Charcot-Marie-Tooth disease type 4H [RCV001113115] | uncertain significance | 12 | 32641792 | 32641792 | Human | 1 | name |
| 28869431 | CV869688 | single nucleotide variant | NM_001370298.3(FGD4):c.*1351A>T | Charcot-Marie-Tooth disease type 4H [RCV001113116] | uncertain significance | 12 | 32641884 | 32641884 | Human | 1 | name |
| 28869433 | CV869689 | single nucleotide variant | NM_001370298.3(FGD4):c.*1365T>C | Charcot-Marie-Tooth disease type 4H [RCV001113117] | uncertain significance | 12 | 32641898 | 32641898 | Human | 1 | name |
| 28869435 | CV869690 | single nucleotide variant | NM_001370298.3(FGD4):c.*1375C>T | Charcot-Marie-Tooth disease type 4H [RCV001113118] | uncertain significance | 12 | 32641908 | 32641908 | Human | 1 | name |
| 28872332 | CV869691 | single nucleotide variant | NM_001370298.3(FGD4):c.*1530T>C | Charcot-Marie-Tooth disease type 4H [RCV001114498] | uncertain significance | 12 | 32642063 | 32642063 | Human | 1 | name |
| 28872334 | CV869692 | single nucleotide variant | NM_001370298.3(FGD4):c.*1564T>C | Charcot-Marie-Tooth disease type 4H [RCV001114499] | benign | 12 | 32642097 | 32642097 | Human | 1 | name |
| 28911386 | CV869693 | single nucleotide variant | NM_001370298.3(FGD4):c.*2096T>A | Charcot-Marie-Tooth disease type 4H [RCV001110461] | uncertain significance | 12 | 32642629 | 32642629 | Human | 1 | name |
| 28911387 | CV869694 | single nucleotide variant | NM_001370298.3(FGD4):c.*2192G>A | Charcot-Marie-Tooth disease type 4H [RCV001110462] | uncertain significance | 12 | 32642725 | 32642725 | Human | 1 | name |
| 28911808 | CV869695 | single nucleotide variant | NM_001370298.3(FGD4):c.*2264G>A | Charcot-Marie-Tooth disease type 4H [RCV001111213] | uncertain significance | 12 | 32642797 | 32642797 | Human | 1 | name |
| 28911809 | CV869696 | single nucleotide variant | NM_001370298.3(FGD4):c.*2309G>A | Charcot-Marie-Tooth disease type 4H [RCV001111214] | uncertain significance | 12 | 32642842 | 32642842 | Human | 1 | name |
| 28911810 | CV869697 | single nucleotide variant | NM_001370298.3(FGD4):c.*2487C>A | Charcot-Marie-Tooth disease type 4H [RCV001111215]|not provided [RCV002292606] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32643020 | 32643020 | Human | 1 | name |
| 28869679 | CV869698 | single nucleotide variant | NM_001370298.3(FGD4):c.*2648G>A | Charcot-Marie-Tooth disease type 4H [RCV001113219] | uncertain significance | 12 | 32643181 | 32643181 | Human | 1 | name |
| 28869681 | CV869699 | single nucleotide variant | NM_001370298.3(FGD4):c.*2859G>A | Charcot-Marie-Tooth disease type 4H [RCV001113220] | uncertain significance | 12 | 32643392 | 32643392 | Human | 1 | name |
| 28869683 | CV869700 | single nucleotide variant | NM_001370298.3(FGD4):c.*3022A>G | Charcot-Marie-Tooth disease type 4H [RCV001113221] | uncertain significance | 12 | 32643555 | 32643555 | Human | 1 | name |
| 28872521 | CV869701 | single nucleotide variant | NM_001370298.3(FGD4):c.*3195T>G | Charcot-Marie-Tooth disease type 4H [RCV001114581] | uncertain significance | 12 | 32643728 | 32643728 | Human | 1 | name |
| 28872524 | CV869702 | single nucleotide variant | NM_001370298.3(FGD4):c.*3543G>C | Charcot-Marie-Tooth disease type 4H [RCV001114582] | uncertain significance | 12 | 32644076 | 32644076 | Human | 1 | name |
| 28910176 | CV869703 | single nucleotide variant | NM_001370298.3(FGD4):c.*3937A>G | Charcot-Marie-Tooth disease type 4H [RCV001108957] | uncertain significance | 12 | 32644470 | 32644470 | Human | 1 | name |
| 28910178 | CV869704 | single nucleotide variant | NM_001370298.3(FGD4):c.*3940G>A | Charcot-Marie-Tooth disease type 4H [RCV001108958] | uncertain significance | 12 | 32644473 | 32644473 | Human | 1 | name |
| 28910180 | CV869705 | single nucleotide variant | NM_001370298.3(FGD4):c.*3994A>G | Charcot-Marie-Tooth disease type 4H [RCV001108959] | uncertain significance | 12 | 32644527 | 32644527 | Human | 1 | name |
| 28910181 | CV869706 | single nucleotide variant | NM_001370298.3(FGD4):c.*4014C>A | Charcot-Marie-Tooth disease type 4H [RCV001108960] | likely benign | 12 | 32644547 | 32644547 | Human | 1 | name |
| 28911887 | CV869707 | single nucleotide variant | NM_001370298.3(FGD4):c.*4028A>G | Charcot-Marie-Tooth disease type 4H [RCV001111314] | likely benign | 12 | 32644561 | 32644561 | Human | 1 | name |
| 28911888 | CV869708 | single nucleotide variant | NM_001370298.3(FGD4):c.*4118G>A | Charcot-Marie-Tooth disease type 4H [RCV001111315] | uncertain significance | 12 | 32644651 | 32644651 | Human | 1 | name |
| 28911889 | CV869709 | single nucleotide variant | NM_001370298.3(FGD4):c.*4192G>T | Charcot-Marie-Tooth disease type 4H [RCV001111316] | benign | 12 | 32644725 | 32644725 | Human | 1 | name |
| 28911890 | CV869710 | single nucleotide variant | NM_001370298.3(FGD4):c.*4317T>G | Charcot-Marie-Tooth disease type 4H [RCV001111317] | uncertain significance | 12 | 32644850 | 32644850 | Human | 1 | name |
| 28869908 | CV869711 | single nucleotide variant | NM_001370298.3(FGD4):c.*4347T>C | Charcot-Marie-Tooth disease type 4H [RCV001113322] | uncertain significance | 12 | 32644880 | 32644880 | Human | 1 | name |
| 28869911 | CV869712 | single nucleotide variant | NM_001370298.3(FGD4):c.*4446A>G | Charcot-Marie-Tooth disease type 4H [RCV001113323] | uncertain significance | 12 | 32644979 | 32644979 | Human | 1 | name |
| 28869913 | CV869713 | single nucleotide variant | NM_001370298.3(FGD4):c.*4585T>A | Charcot-Marie-Tooth disease type 4H [RCV001113324] | likely benign | 12 | 32645118 | 32645118 | Human | 1 | name |
| 28872759 | CV869714 | single nucleotide variant | NM_001370298.3(FGD4):c.*4832G>A | Charcot-Marie-Tooth disease type 4H [RCV001114691] | uncertain significance | 12 | 32645365 | 32645365 | Human | 1 | name |
| 28872761 | CV869715 | single nucleotide variant | NM_001370298.3(FGD4):c.*4988G>A | Charcot-Marie-Tooth disease type 4H [RCV001114692] | benign | 12 | 32645521 | 32645521 | Human | 1 | name |
| 28910311 | CV869716 | single nucleotide variant | NM_001370298.3(FGD4):c.*5153G>A | Charcot-Marie-Tooth disease type 4H [RCV001109067] | uncertain significance | 12 | 32645686 | 32645686 | Human | 1 | name |
| 28910312 | CV869717 | single nucleotide variant | NM_001370298.3(FGD4):c.*5243C>T | Charcot-Marie-Tooth disease type 4H [RCV001109068] | uncertain significance | 12 | 32645776 | 32645776 | Human | 1 | name |
| 28911959 | CV869718 | single nucleotide variant | NM_001370298.3(FGD4):c.*5265A>G | Charcot-Marie-Tooth disease type 4H [RCV001111407] | uncertain significance | 12 | 32645798 | 32645798 | Human | 1 | name |
| 28911960 | CV869719 | single nucleotide variant | NM_001370298.3(FGD4):c.*5321G>A | Charcot-Marie-Tooth disease type 4H [RCV001111408] | uncertain significance | 12 | 32645854 | 32645854 | Human | 1 | name |
| 28911961 | CV869720 | single nucleotide variant | NM_001370298.3(FGD4):c.*5389A>G | Charcot-Marie-Tooth disease type 4H [RCV001111409] | uncertain significance | 12 | 32645922 | 32645922 | Human | 1 | name |
| 127295367 | CV1122571 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-7G>A | Charcot-Marie-Tooth disease type 4 [RCV001459723] | likely benign | 12 | 32602154 | 32602154 | Human | 1 | name |
| 127301017 | CV1122573 | single nucleotide variant | NM_001370298.3(FGD4):c.1543+8C>T | Charcot-Marie-Tooth disease type 4 [RCV001454034] | likely benign | 12 | 32608103 | 32608103 | Human | 1 | name |
| 150337174 | CV1172409 | single nucleotide variant | NM_001370298.3(FGD4):c.167-83T>A | not provided [RCV001541466] | benign | 12 | 32564054 | 32564054 | Human | | name |
| 150410840 | CV1177596 | single nucleotide variant | NM_001370298.3(FGD4):c.167-60T>C | not provided [RCV001546853] | likely benign | 12 | 32564077 | 32564077 | Human | | name |
| 151802895 | CV1354424 | single nucleotide variant | NM_001370298.3(FGD4):c.2313+5G>C | Charcot-Marie-Tooth disease type 4 [RCV001867287]|Inborn genetic diseases [RCV004039568] | uncertain significance | 12 | 32633694 | 32633694 | Human | 2 | name |
| 151835977 | CV1367000 | single nucleotide variant | NM_001370298.3(FGD4):c.1602+1G>C | Charcot-Marie-Tooth disease type 4 [RCV001994195] | likely pathogenic | 12 | 32610835 | 32610835 | Human | 1 | name |
| 151851132 | CV1378091 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-3C>A | Charcot-Marie-Tooth disease type 4 [RCV002016600] | uncertain significance | 12 | 32602158 | 32602158 | Human | 1 | name |
| 151879702 | CV1411107 | duplication | NM_001370298.3(FGD4):c.1404+5dup | Charcot-Marie-Tooth disease type 4 [RCV002019975] | uncertain significance | 12 | 32602321 | 32602322 | Human | 1 | name |
| 151879710 | CV1411108 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+6A>T | Charcot-Marie-Tooth disease type 4 [RCV002019976] | uncertain significance | 12 | 32602323 | 32602323 | Human | 1 | name |
| 151820161 | CV1416113 | single nucleotide variant | NM_001370298.3(FGD4):c.2455-5T>G | Charcot-Marie-Tooth disease type 4 [RCV001919488]|Inborn genetic diseases [RCV002423061] | likely benign|uncertain significance | 12 | 32640271 | 32640271 | Human | 2 | name |
| 151798789 | CV1445815 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+2T>A | Charcot-Marie-Tooth disease type 4 [RCV002011371] | likely pathogenic | 12 | 32602319 | 32602319 | Human | 1 | name |
| 152168222 | CV1524828 | single nucleotide variant | NM_001370298.3(FGD4):c.2455-7T>C | Charcot-Marie-Tooth disease type 4 [RCV002182368] | likely benign | 12 | 32640269 | 32640269 | Human | 1 | name |
| 152102481 | CV1571647 | single nucleotide variant | NM_001370298.3(FGD4):c.1603-9A>T | Charcot-Marie-Tooth disease type 4 [RCV002173284] | likely benign | 12 | 32611128 | 32611128 | Human | 1 | name |
| 152025697 | CV1586493 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-9T>A | Charcot-Marie-Tooth disease type 4 [RCV002184906] | likely benign | 12 | 32602152 | 32602152 | Human | 1 | name |
| 8595271 | CV16056 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-2A>G | Charcot-Marie-Tooth disease [RCV000789105]|Charcot-Marie-Tooth disease type 4H [RCV000001072] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32633547 | 32633547 | Human | 2 | name |
| 152075177 | CV1629245 | single nucleotide variant | NM_001370298.3(FGD4):c.1953+7C>G | Charcot-Marie-Tooth disease type 4 [RCV002130118] | likely benign | 12 | 32624459 | 32624459 | Human | 1 | name |
| 156322766 | CV1882538 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-4A>G | Charcot-Marie-Tooth disease type 4 [RCV003089278] | likely benign | 12 | 32602157 | 32602157 | Human | 1 | name |
| 156087544 | CV1953310 | single nucleotide variant | NM_001370298.3(FGD4):c.1102-4T>G | Charcot-Marie-Tooth disease type 4 [RCV002570111] | likely benign | 12 | 32601274 | 32601274 | Human | 1 | name |
| 156224482 | CV2081028 | deletion | NM_001370298.3(FGD4):c.2172+7del | Charcot-Marie-Tooth disease type 4 [RCV002853335] | likely benign | 12 | 32625786 | 32625786 | Human | 1 | name |
| 156147167 | CV2119099 | single nucleotide variant | NM_001370298.3(FGD4):c.1543+9T>C | Charcot-Marie-Tooth disease type 4 [RCV002954439] | likely benign | 12 | 32608104 | 32608104 | Human | 1 | name |
| 155949239 | CV2164799 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-3C>T | Charcot-Marie-Tooth disease type 4 [RCV003032338] | uncertain significance | 12 | 32602158 | 32602158 | Human | 1 | name |
| 11059908 | CV226815 | single nucleotide variant | NM_001370298.3(FGD4):c.1954-8T>C | Charcot-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 benign | 12 | 32624968 | 32624968 | Human | 3 | name |
| 405087164 | CV2880444 | single nucleotide variant | NM_001370298.3(FGD4):c.1923-7A>T | Charcot-Marie-Tooth disease type 4 [RCV003582579] | likely benign | 12 | 32624415 | 32624415 | Human | 1 | name |
| 405095039 | CV2949335 | single nucleotide variant | NM_001370298.3(FGD4):c.1405-7A>T | Charcot-Marie-Tooth disease type 4 [RCV003745765] | likely benign | 12 | 32607950 | 32607950 | Human | 1 | name |
| 405082409 | CV2973108 | single nucleotide variant | NM_001370298.3(FGD4):c.1102-6A>G | Charcot-Marie-Tooth disease type 4 [RCV003744098] | likely benign | 12 | 32601272 | 32601272 | Human | 1 | name |
| 405086638 | CV2993470 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+7T>A | Charcot-Marie-Tooth disease type 4 [RCV003744430] | likely benign | 12 | 32598593 | 32598593 | Human | 1 | name |
| 11605279 | CV316828 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+4A>T | Charcot-Marie-Tooth disease type 4 [RCV001366739]|Charcot-Marie-Tooth disease type 4H [RCV000317934] | uncertain significance | 12 | 32602321 | 32602321 | Human | 2 | name |
| 11609967 | CV316833 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+8G>A | Charcot-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 benign | 12 | 32602325 | 32602325 | Human | 3 | name |
| 11614537 | CV330499 | single nucleotide variant | NM_001370298.3(FGD4):c.2047-7T>C | Charcot-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 benign | 12 | 32625647 | 32625647 | Human | 3 | name |
| 11648674 | CV331863 | single nucleotide variant | NM_001370298.3(FGD4):c.1405-4A>G | Charcot-Marie-Tooth disease type 4H [RCV000282914] | uncertain significance | 12 | 32607953 | 32607953 | Human | 1 | name |
| 12840627 | CV372235 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+8A>T | Charcot-Marie-Tooth disease type 4 [RCV002059900]|not specified [RCV000431071] | likely benign | 12 | 32625787 | 32625787 | Human | 1 | name |
| 597906281 | CV3846690 | single nucleotide variant | NM_001370298.3(FGD4):c.503+17A>C | Charcot-Marie-Tooth disease type 4 [RCV005182117] | likely benign | 12 | 32576466 | 32576466 | Human | 1 | name |
| 597965323 | CV3848236 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-8A>C | Charcot-Marie-Tooth disease type 4 [RCV005194116] | likely benign | 12 | 32633541 | 32633541 | Human | 1 | name |
| 597893262 | CV3857058 | single nucleotide variant | NM_001370298.3(FGD4):c.1247+5G>A | Charcot-Marie-Tooth disease type 4 [RCV005200921] | uncertain significance | 12 | 32601428 | 32601428 | Human | 1 | name |
| 13496708 | CV463031 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+4A>G | Charcot-Marie-Tooth disease type 4 [RCV000538038] | uncertain significance | 12 | 32619874 | 32619874 | Human | 1 | name |
| 13540345 | CV504836 | single nucleotide variant | NM_001370298.3(FGD4):c.1923-7A>G | Charcot-Marie-Tooth disease type 4 [RCV000654289]|not provided [RCV002066722]|not specified [RCV000614570] | benign|likely benign|uncertain significance | 12 | 32624415 | 32624415 | Human | 1 | name |
| 13625832 | CV527143 | single nucleotide variant | NM_001370298.3(FGD4):c.1603-9A>G | Charcot-Marie-Tooth disease type 4 [RCV000654050] | uncertain significance | 12 | 32611128 | 32611128 | Human | 1 | name |
| 14700485 | CV625757 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-2A>G | Charcot-Marie-Tooth disease [RCV000790325]|Charcot-Marie-Tooth disease type 4H [RCV003447311] | uncertain significance | 12 | 32602159 | 32602159 | Human | 2 | name |
| 14699645 | CV625758 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-1G>A | Charcot-Marie-Tooth disease [RCV000789108]|Charcot-Marie-Tooth disease type 4H [RCV003447173] | uncertain significance | 12 | 32602160 | 32602160 | Human | 2 | name |
| 14699643 | CV625759 | single nucleotide variant | NM_001370298.3(FGD4):c.1543+1G>A | Charcot-Marie-Tooth disease [RCV000789106]|Charcot-Marie-Tooth disease type 4H [RCV003447171] | uncertain significance | 12 | 32608096 | 32608096 | Human | 2 | name |
| 14733318 | CV652321 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+3G>A | Charcot-Marie-Tooth disease type 4 [RCV000818655] | uncertain significance | 12 | 32611286 | 32611286 | Human | 1 | name |
| 15113733 | CV695561 | single nucleotide variant | NM_001370298.3(FGD4):c.1953+7C>T | Charcot-Marie-Tooth disease type 4 [RCV000872801] | likely benign | 12 | 32624459 | 32624459 | Human | 1 | name |
| 21406339 | CV799678 | single nucleotide variant | NM_001370298.3(FGD4):c.504-20C>G | Charcot-Marie-Tooth disease type 4 [RCV003769387]|Charcot-Marie-Tooth disease type 4H [RCV001002524] | likely benign | 12 | 32581940 | 32581940 | Human | 2 | name |
| 26905636 | CV851947 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+6A>T | Charcot-Marie-Tooth disease type 4 [RCV001051387] | uncertain significance | 12 | 32598592 | 32598592 | Human | 1 | name |
| 28891441 | CV859961 | single nucleotide variant | NM_001370298.3(FGD4):c.1405-7A>G | not provided [RCV001092391] | uncertain significance | 12 | 32607950 | 32607950 | Human | | name |
| 28911710 | CV872229 | single nucleotide variant | NM_001370298.3(FGD4):c.1602+6T>C | Charcot-Marie-Tooth disease type 4H [RCV001111044] | uncertain significance | 12 | 32610840 | 32610840 | Human | 1 | name |
| 34890056 | CV905667 | single nucleotide variant | NM_001370298.3(FGD4):c.1102-5T>A | Charcot-Marie-Tooth disease [RCV001173487]|Charcot-Marie-Tooth disease type 4 [RCV002068085]|Inborn genetic diseases [RCV002375052]|not provided [RCV001664728] | likely benign|uncertain significance | 12 | 32601273 | 32601273 | Human | 3 | name |
| 34890543 | CV905669 | single nucleotide variant | NM_001370298.3(FGD4):c.1602+7G>A | Charcot-Marie-Tooth disease [RCV001174092]|Charcot-Marie-Tooth disease type 4 [RCV001416114]|not specified [RCV004998675] | likely benign | 12 | 32610841 | 32610841 | Human | 2 | name |
| 38499987 | CV960786 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+5T>C | Charcot-Marie-Tooth disease type 4 [RCV001245374]|Charcot-Marie-Tooth disease type 4H [RCV003600406] | likely benign|uncertain significance | 12 | 32602322 | 32602322 | Human | 2 | name |
| 150332966 | CV1172410 | single nucleotide variant | NM_001370298.3(FGD4):c.503+279G>A | not provided [RCV001539251] | likely benign | 12 | 32576728 | 32576728 | Human | | name |
| 150335125 | CV1172413 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+59A>G | not provided [RCV001540417] | likely benign | 12 | 32625838 | 32625838 | Human | | name |
| 150421079 | CV1198361 | single nucleotide variant | NM_001370298.3(FGD4):c.504-286A>G | not provided [RCV001577885] | likely benign | 12 | 32581674 | 32581674 | Human | | name |
| 150433373 | CV1203653 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-72G>C | not provided [RCV001581809] | likely benign | 12 | 32598425 | 32598425 | Human | | name |
| 150495773 | CV1205900 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-46A>G | not provided [RCV001593582] | likely benign | 12 | 32633503 | 32633503 | Human | | name |
| 150508858 | CV1214151 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+48G>A | not provided [RCV001596672] | likely benign | 12 | 32625116 | 32625116 | Human | | name |
| 150509837 | CV1228806 | single nucleotide variant | NM_001370298.3(FGD4):c.2454+67G>A | not provided [RCV001636591] | benign | 12 | 32638862 | 32638862 | Human | | name |
| 150458771 | CV1235984 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-67G>A | not provided [RCV001648954] | benign | 12 | 32598430 | 32598430 | Human | | name |
| 150508234 | CV1244779 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+44A>G | not provided [RCV001659028] | likely benign | 12 | 32598630 | 32598630 | Human | | name |
| 150436035 | CV1252589 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+37A>G | Charcot-Marie-Tooth disease type 4H [RCV001702232]|not provided [RCV001669912] | benign | 12 | 32625105 | 32625105 | Human | 1 | name |
| 150492019 | CV1280775 | single nucleotide variant | NM_001370298.3(FGD4):c.2313+77G>A | not provided [RCV001716737] | benign | 12 | 32633766 | 32633766 | Human | | name |
| 150485585 | CV1280784 | single nucleotide variant | NM_001370298.3(FGD4):c.1544-42G>A | not provided [RCV001715622] | benign | 12 | 32610734 | 32610734 | Human | | name |
| 150485587 | CV1280785 | single nucleotide variant | NM_001370298.3(FGD4):c.1954-21T>G | not provided [RCV001715623] | benign | 12 | 32624955 | 32624955 | Human | | name |
| 150485597 | CV1280787 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+29T>G | not provided [RCV001715625] | benign | 12 | 32625808 | 32625808 | Human | | name |
| 150495749 | CV1283052 | single nucleotide variant | NM_001370298.3(FGD4):c.167-226G>A | not provided [RCV001717454] | benign | 12 | 32563911 | 32563911 | Human | | name |
| 150495757 | CV1283054 | single nucleotide variant | NM_001370298.3(FGD4):c.1011+89G>T | not provided [RCV001717456] | benign | 12 | 32582556 | 32582556 | Human | | name |
| 150496286 | CV1283234 | single nucleotide variant | NM_001370298.3(FGD4):c.504-181G>A | not provided [RCV001717591] | benign | 12 | 32581779 | 32581779 | Human | | name |
| 150504862 | CV1286042 | duplication | NM_001370298.3(FGD4):c.1953+41dup | not provided [RCV001719465] | benign | 12 | 32624482 | 32624483 | Human | | name |
| 150443733 | CV1287923 | single nucleotide variant | NM_001370298.3(FGD4):c.504-145G>A | not provided [RCV001725645] | benign | 12 | 32581815 | 32581815 | Human | | name |
| 152155693 | CV1520350 | single nucleotide variant | NM_001370298.3(FGD4):c.1011+13A>G | Charcot-Marie-Tooth disease type 4 [RCV002140134] | likely benign | 12 | 32582480 | 32582480 | Human | 1 | name |
| 152158907 | CV1521769 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+14T>C | Charcot-Marie-Tooth disease type 4 [RCV002180571] | likely benign | 12 | 32598600 | 32598600 | Human | 1 | name |
| 152142992 | CV1526765 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+15C>A | Charcot-Marie-Tooth disease type 4 [RCV002084410] | likely benign | 12 | 32598601 | 32598601 | Human | 1 | name |
| 152094313 | CV1533673 | single nucleotide variant | NM_001370298.3(FGD4):c.1953+20C>T | Charcot-Marie-Tooth disease type 4 [RCV002094628] | likely benign | 12 | 32624472 | 32624472 | Human | 1 | name |
| 152090052 | CV1535832 | deletion | NM_001370298.3(FGD4):c.1543+17del | Charcot-Marie-Tooth disease type 4 [RCV002150474] | likely benign | 12 | 32608104 | 32608104 | Human | 1 | name |
| 152148381 | CV1568999 | duplication | NM_001370298.3(FGD4):c.1543+17dup | Charcot-Marie-Tooth disease type 4 [RCV002220405]|Charcot-Marie-Tooth disease type 4H [RCV003600423] | benign|likely benign | 12 | 32608103 | 32608104 | Human | 2 | name |
| 152162235 | CV1584760 | single nucleotide variant | NM_001370298.3(FGD4):c.2454+19T>A | Charcot-Marie-Tooth disease type 4 [RCV002123411] | likely benign | 12 | 32638814 | 32638814 | Human | 1 | name |
| 152141968 | CV1587470 | single nucleotide variant | NM_001370298.3(FGD4):c.1602+14G>A | Charcot-Marie-Tooth disease type 4 [RCV002138290] | likely benign | 12 | 32610848 | 32610848 | Human | 1 | name |
| 152171865 | CV1597856 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+18G>C | Charcot-Marie-Tooth disease type 4 [RCV002162261] | likely benign | 12 | 32611301 | 32611301 | Human | 1 | name |
| 152048703 | CV1615028 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+18C>A | Charcot-Marie-Tooth disease type 4 [RCV002088867] | likely benign | 12 | 32625086 | 32625086 | Human | 1 | name |
| 152113521 | CV1623901 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+15A>G | Charcot-Marie-Tooth disease type 4 [RCV002134793] | likely benign | 12 | 32625083 | 32625083 | Human | 1 | name |
| 152085469 | CV1633496 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-20A>C | Charcot-Marie-Tooth disease type 4 [RCV002113325] | likely benign | 12 | 32633529 | 32633529 | Human | 1 | name |
| 152074678 | CV1635288 | single nucleotide variant | NM_001370298.3(FGD4):c.1102-10T>G | Charcot-Marie-Tooth disease type 4 [RCV002092063] | likely benign | 12 | 32601268 | 32601268 | Human | 1 | name |
| 152114828 | CV1637073 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+13G>A | Charcot-Marie-Tooth disease type 4 [RCV002215984] | likely benign | 12 | 32611296 | 32611296 | Human | 1 | name |
| 152172925 | CV1652796 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-17T>C | Charcot-Marie-Tooth disease type 4 [RCV002143938] | likely benign | 12 | 32602144 | 32602144 | Human | 1 | name |
| 152067250 | CV1660073 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-19A>C | Charcot-Marie-Tooth disease type 4 [RCV002147595] | likely benign | 12 | 32598478 | 32598478 | Human | 1 | name |
| 152165862 | CV1661042 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+11T>C | Charcot-Marie-Tooth disease type 4 [RCV002124105] | likely benign | 12 | 32611294 | 32611294 | Human | 1 | name |
| 152151911 | CV1664388 | single nucleotide variant | NM_001370298.3(FGD4):c.2313+11T>C | Charcot-Marie-Tooth disease type 4 [RCV002158319] | likely benign | 12 | 32633700 | 32633700 | Human | 1 | name |
| 156060685 | CV1876321 | single nucleotide variant | NM_001370298.3(FGD4):c.2314-18T>G | Charcot-Marie-Tooth disease type 4 [RCV003053331] | likely benign | 12 | 32638637 | 32638637 | Human | 1 | name |
| 156021993 | CV1882406 | single nucleotide variant | NM_001370298.3(FGD4):c.1750-11G>A | Charcot-Marie-Tooth disease type 4 [RCV003077666] | likely benign | 12 | 32619687 | 32619687 | Human | 1 | name |
| 156075259 | CV1890147 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+18A>G | Charcot-Marie-Tooth disease type 4 [RCV003079680] | likely benign | 12 | 32625797 | 32625797 | Human | 1 | name |
| 156435554 | CV1947447 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-19A>G | Charcot-Marie-Tooth disease type 4 [RCV003106977] | likely benign | 12 | 32598478 | 32598478 | Human | 1 | name |
| 155977434 | CV2085387 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+11T>C | Charcot-Marie-Tooth disease type 4 [RCV002863601] | likely benign | 12 | 32625790 | 32625790 | Human | 1 | name |
| 155910648 | CV2088469 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-19T>C | Charcot-Marie-Tooth disease type 4 [RCV002858461] | likely benign | 12 | 32633530 | 32633530 | Human | 1 | name |
| 156392334 | CV2123438 | deletion | NM_001370298.3(FGD4):c.1543+18del | Charcot-Marie-Tooth disease type 4 [RCV002944034] | likely benign | 12 | 32608113 | 32608113 | Human | 1 | name |
| 156038968 | CV2143351 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-19T>G | Charcot-Marie-Tooth disease type 4 [RCV002999443] | likely benign | 12 | 32602142 | 32602142 | Human | 1 | name |
| 155954771 | CV2143898 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-11C>G | Charcot-Marie-Tooth disease type 4 [RCV002994832] | likely benign | 12 | 32598486 | 32598486 | Human | 1 | name |
| 11059910 | CV226827 | single nucleotide variant | NM_001370298.3(FGD4):c.1247+10G>T | Charcot-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 significance | 12 | 32601433 | 32601433 | Human | 3 | name |
| 405070971 | CV2884969 | deletion | NM_001370298.3(FGD4):c.1544-17del | Charcot-Marie-Tooth disease type 4 [RCV003581119] | likely benign | 12 | 32610759 | 32610759 | Human | 1 | name |
| 405136512 | CV2890140 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-12T>C | Charcot-Marie-Tooth disease type 4 [RCV003583584] | likely benign | 12 | 32598485 | 32598485 | Human | 1 | name |
| 405075650 | CV2898386 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+10C>T | Charcot-Marie-Tooth disease type 4 [RCV003581430] | likely benign | 12 | 32619880 | 32619880 | Human | 1 | name |
| 405080272 | CV3045648 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+20C>T | Charcot-Marie-Tooth disease type 4 [RCV003743499] | likely benign | 12 | 32602337 | 32602337 | Human | 1 | name |
| 405089136 | CV3064164 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+15G>A | Charcot-Marie-Tooth disease type 4 [RCV003745054] | likely benign | 12 | 32611298 | 32611298 | Human | 1 | name |
| 405093280 | CV3077146 | single nucleotide variant | NM_001370298.3(FGD4):c.1102-20T>C | Charcot-Marie-Tooth disease type 4 [RCV003745246] | likely benign | 12 | 32601258 | 32601258 | Human | 1 | name |
| 405122473 | CV3131696 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-11A>G | Charcot-Marie-Tooth disease type 4 [RCV003837560] | likely benign | 12 | 32602150 | 32602150 | Human | 1 | name |
| 11612243 | CV316842 | single nucleotide variant | NM_001370298.3(FGD4):c.1750-12C>T | Charcot-Marie-Tooth disease [RCV001174107]|Charcot-Marie-Tooth disease type 4 [RCV001521284]|Charcot-Marie-Tooth disease type 4H [RCV000405789]|not provided [RCV001612976] | benign|likely benign | 12 | 32619686 | 32619686 | Human | 3 | name |
| 404985851 | CV3183819 | single nucleotide variant | NM_001370298.3(FGD4):c.1544-19T>G | Charcot-Marie-Tooth disease type 4 [RCV003881096] | likely benign | 12 | 32610757 | 32610757 | Human | 1 | name |
| 11612901 | CV330562 | microsatellite | NM_001370298.3(FGD4):c.*3113TA[6] | Charcot-Marie-Tooth disease type 4 [RCV000263487] | uncertain significance | 12 | 32643644 | 32643645 | Human | | name |
| 11623894 | CV331864 | single nucleotide variant | NM_001370298.3(FGD4):c.1543+13T>C | Charcot-Marie-Tooth disease type 4 [RCV002056289]|Charcot-Marie-Tooth disease type 4H [RCV000378611] | likely benign|uncertain significance | 12 | 32608108 | 32608108 | Human | 2 | name |
| 11654580 | CV331919 | microsatellite | NM_001370298.3(FGD4):c.*3113TA[4] | Charcot-Marie-Tooth disease type 4 [RCV000318721] | uncertain significance | 12 | 32643645 | 32643646 | Human | | name |
| 12844298 | CV375049 | single nucleotide variant | NM_001370298.3(FGD4):c.1602+13C>T | Charcot-Marie-Tooth disease type 4 [RCV001861604]|not specified [RCV000437753] | likely benign | 12 | 32610847 | 32610847 | Human | 1 | name |
| 597869303 | CV3835147 | single nucleotide variant | NM_001370298.3(FGD4):c.1247+15T>C | Charcot-Marie-Tooth disease type 4 [RCV005176323] | likely benign | 12 | 32601438 | 32601438 | Human | 1 | name |
| 12900078 | CV408629 | duplication | NM_001370298.3(FGD4):c.1248-16dup | Charcot-Marie-Tooth disease [RCV001174095]|not provided [RCV001712441] | likely benign | 12 | 32602140 | 32602141 | Human | 1 | name |
| 13536058 | CV503834 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+10C>T | Charcot-Marie-Tooth disease type 4 [RCV001401810]|not specified [RCV000608455] | likely benign | 12 | 32602327 | 32602327 | Human | 1 | name |
| 14723875 | CV666448 | single nucleotide variant | NM_001370298.3(FGD4):c.320-339A>G | not provided [RCV000832730] | likely benign | 12 | 32575927 | 32575927 | Human | | name |
| 14716148 | CV666454 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-37T>A | Charcot-Marie-Tooth disease type 4H [RCV001702564]|not provided [RCV000829632] | benign | 12 | 32602124 | 32602124 | Human | 1 | name |
| 14716244 | CV666457 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-23T>G | not provided [RCV000829663] | likely benign | 12 | 32633526 | 32633526 | Human | | name |
| 14724247 | CV666581 | single nucleotide variant | NM_001370298.3(FGD4):c.2455-46A>G | not provided [RCV000832898] | benign | 12 | 32640230 | 32640230 | Human | | name |
| 15117246 | CV695562 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+10A>G | Charcot-Marie-Tooth disease type 4 [RCV000873465] | likely benign | 12 | 32625078 | 32625078 | Human | 1 | name |
| 15172198 | CV775971 | single nucleotide variant | NM_001370298.3(FGD4):c.2455-10T>C | Charcot-Marie-Tooth disease type 4 [RCV001455591] | likely benign | 12 | 32640266 | 32640266 | Human | 1 | name |
| 28872125 | CV872230 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+12T>G | Charcot-Marie-Tooth disease type 4 [RCV002069843]|Charcot-Marie-Tooth disease type 4H [RCV001114407] | likely benign|uncertain significance | 12 | 32625791 | 32625791 | Human | 2 | name |
| 34890548 | CV905668 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-13A>G | Charcot-Marie-Tooth disease [RCV001174097]|Charcot-Marie-Tooth disease type 4 [RCV002067860] | likely benign | 12 | 32602148 | 32602148 | Human | 2 | name |
| 34890553 | CV905670 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+11C>T | Charcot-Marie-Tooth disease [RCV001174101]|Charcot-Marie-Tooth disease type 4 [RCV002068111] | likely benign | 12 | 32619881 | 32619881 | Human | 2 | name |
| 150338848 | CV1167554 | single nucleotide variant | NM_001370298.3(FGD4):c.2047-138T>C | not provided [RCV001533790] | benign | 12 | 32625516 | 32625516 | Human | | name |
| 150337299 | CV1172411 | single nucleotide variant | NM_001370298.3(FGD4):c.1923-163G>A | not provided [RCV001541552] | likely benign | 12 | 32624259 | 32624259 | Human | | name |
| 150405640 | CV1177597 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-243G>A | not provided [RCV001544949] | likely benign | 12 | 32598254 | 32598254 | Human | | name |
| 150404841 | CV1177598 | single nucleotide variant | NM_001370298.3(FGD4):c.1750-158G>T | not provided [RCV001544597] | likely benign | 12 | 32619540 | 32619540 | Human | | name |
| 150410710 | CV1177599 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+249A>C | not provided [RCV001546789] | likely benign | 12 | 32620119 | 32620119 | Human | | name |
| 150422968 | CV1180991 | single nucleotide variant | NM_001370298.3(FGD4):c.1011+319T>A | not provided [RCV001553370] | likely benign | 12 | 32582786 | 32582786 | Human | | name |
| 150423286 | CV1184685 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+231G>A | not provided [RCV001555115] | likely benign | 12 | 32598817 | 32598817 | Human | | name |
| 150423371 | CV1184686 | single nucleotide variant | NM_001370298.3(FGD4):c.1544-207G>T | not provided [RCV001555225] | likely benign | 12 | 32610569 | 32610569 | Human | | name |
| 150425716 | CV1184687 | single nucleotide variant | NM_001370298.3(FGD4):c.2314-311A>G | not provided [RCV001558380] | likely benign | 12 | 32638344 | 32638344 | Human | | name |
| 150495577 | CV1205041 | single nucleotide variant | NM_001370298.3(FGD4):c.2047-104C>G | not provided [RCV001593533] | likely benign | 12 | 32625550 | 32625550 | Human | | name |
| 150431210 | CV1206273 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+205T>A | not provided [RCV001580922] | likely benign | 12 | 32625273 | 32625273 | Human | | name |
| 150470757 | CV1209389 | single nucleotide variant | NM_001370298.3(FGD4):c.1247+320G>C | not provided [RCV001588500] | likely benign | 12 | 32601743 | 32601743 | Human | | name |
| 150491488 | CV1210373 | single nucleotide variant | NM_001370298.3(FGD4):c.1923-321T>A | not provided [RCV001592655] | likely benign | 12 | 32624101 | 32624101 | Human | | name |
| 150512254 | CV1212953 | single nucleotide variant | NM_001370298.3(FGD4):c.2314-252A>G | not provided [RCV001598185] | benign | 12 | 32638403 | 32638403 | Human | | name |
| 150485026 | CV1222618 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+287C>T | not provided [RCV001617621] | benign | 12 | 32625355 | 32625355 | Human | | name |
| 150517076 | CV1227813 | single nucleotide variant | NM_001370298.3(FGD4):c.1101+180A>G | not provided [RCV001639616] | benign | 12 | 32598766 | 32598766 | Human | | name |
| 150516387 | CV1228331 | single nucleotide variant | NM_001370298.3(FGD4):c.1750-123T>C | not provided [RCV001639137] | benign | 12 | 32619575 | 32619575 | Human | | name |
| 150510964 | CV1229309 | deletion | NM_001370298.3(FGD4):c.2046+221del | not provided [RCV001637237] | benign | 12 | 32625270 | 32625270 | Human | | name |
| 150443243 | CV1232553 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-262G>T | not provided [RCV001645521] | benign | 12 | 32598235 | 32598235 | Human | | name |
| 150462757 | CV1234959 | single nucleotide variant | NM_001370298.3(FGD4):c.2313+246G>A | not provided [RCV001649541] | benign | 12 | 32633935 | 32633935 | Human | | name |
| 150489452 | CV1236369 | single nucleotide variant | NM_001370298.3(FGD4):c.2455-227A>C | not provided [RCV001654510] | benign | 12 | 32640049 | 32640049 | Human | | name |
| 150437717 | CV1237915 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+202A>G | not provided [RCV001644413] | benign | 12 | 32620072 | 32620072 | Human | | name |
| 150442358 | CV1246881 | duplication | NM_001370298.3(FGD4):c.2046+221dup | not provided [RCV001666535] | benign | 12 | 32625269 | 32625270 | Human | | name |
| 150438124 | CV1247129 | single nucleotide variant | NM_001370298.3(FGD4):c.2314-129C>T | not provided [RCV001665898] | benign | 12 | 32638526 | 32638526 | Human | | name |
| 150476219 | CV1251829 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-171G>C | not provided [RCV001672027] | benign | 12 | 32633378 | 32633378 | Human | | name |
| 150451193 | CV1261513 | single nucleotide variant | NM_001370298.3(FGD4):c.2047-125G>A | not provided [RCV001680715] | benign | 12 | 32625529 | 32625529 | Human | | name |
| 150494208 | CV1267306 | single nucleotide variant | NM_001370298.3(FGD4):c.2313+123T>C | not provided [RCV001688334] | benign | 12 | 32633812 | 32633812 | Human | | name |
| 150444938 | CV1269355 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+117G>T | not provided [RCV001691042] | benign | 12 | 32625896 | 32625896 | Human | | name |
| 150467512 | CV1277583 | single nucleotide variant | NM_001370298.3(FGD4):c.1247+305C>G | not provided [RCV001710878] | benign | 12 | 32601728 | 32601728 | Human | | name |
| 150485553 | CV1280773 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-177G>A | not provided [RCV001715615] | benign | 12 | 32601984 | 32601984 | Human | | name |
| 150485560 | CV1280774 | single nucleotide variant | NM_001370298.3(FGD4):c.1750-142C>T | not provided [RCV001715616] | benign | 12 | 32619556 | 32619556 | Human | | name |
| 150485592 | CV1280786 | single nucleotide variant | NM_001370298.3(FGD4):c.1954-144G>A | not provided [RCV001715624] | benign | 12 | 32624832 | 32624832 | Human | | name |
| 150496281 | CV1283228 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+215C>A | not provided [RCV001717589] | benign | 12 | 32620085 | 32620085 | Human | | name |
| 150503943 | CV1285858 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+206A>T | not provided [RCV001719281] | benign | 12 | 32611489 | 32611489 | Human | | name |
| 150503954 | CV1285860 | single nucleotide variant | NM_001370298.3(FGD4):c.1544-152T>A | not provided [RCV001719283] | benign | 12 | 32610624 | 32610624 | Human | | name |
| 150530035 | CV1291177 | single nucleotide variant | NM_001370298.3(FGD4):c.1922+141A>T | not provided [RCV001732702] | likely benign | 12 | 32620011 | 32620011 | Human | | name |
| 407427147 | CV3410484 | single nucleotide variant | NM_001370298.3(FGD4):c.1953+259C>T | not specified [RCV004586131] | likely benign | 12 | 32624711 | 32624711 | Human | | name |
| 408367305 | CV3509689 | single nucleotide variant | NM_001370298.3(FGD4):c.2454+125A>G | FGD4-related disorder [RCV004758347] | likely benign | 12 | 32638920 | 32638920 | Human | | name , trait , alternate_id |
| 14739505 | CV665781 | single nucleotide variant | NM_001370298.3(FGD4):c.1749+200A>C | not provided [RCV000839903] | benign | 12 | 32611483 | 32611483 | Human | | name |
| 14739522 | CV665784 | single nucleotide variant | NM_001370298.3(FGD4):c.2455-236G>A | not provided [RCV000839911] | benign | 12 | 32640040 | 32640040 | Human | | name |
| 14737700 | CV666453 | single nucleotide variant | NM_001370298.3(FGD4):c.1012-154T>G | not provided [RCV000839041] | likely benign | 12 | 32598343 | 32598343 | Human | | name |
| 14739499 | CV666566 | single nucleotide variant | NM_001370298.3(FGD4):c.1544-236T>G | not provided [RCV000839901] | benign | 12 | 32610540 | 32610540 | Human | | name |
| 14739502 | CV666572 | single nucleotide variant | NM_001370298.3(FGD4):c.1544-135G>A | not provided [RCV000839902] | benign | 12 | 32610641 | 32610641 | Human | | name |
| 14708465 | CV666577 | deletion | NM_001370298.3(FGD4):c.2173-322del | not provided [RCV000826917] | benign | 12 | 32633223 | 32633223 | Human | | name |
| 14716144 | CV666803 | single nucleotide variant | NM_001370298.3(FGD4):c.1248-149T>G | not provided [RCV000829631] | benign | 12 | 32602012 | 32602012 | Human | | name |
| 14716242 | CV666808 | single nucleotide variant | NM_001370298.3(FGD4):c.1404+149T>C | not provided [RCV000829662] | benign | 12 | 32602466 | 32602466 | Human | | name |
| 14721041 | CV666809 | single nucleotide variant | NM_001370298.3(FGD4):c.2046+221T>A | not provided [RCV000831499] | likely benign | 12 | 32625289 | 32625289 | Human | | name |
| 14710404 | CV666815 | single nucleotide variant | NM_001370298.3(FGD4):c.2047-292C>T | not provided [RCV000827692] | benign | 12 | 32625362 | 32625362 | Human | | name |
| 14739506 | CV666819 | single nucleotide variant | NM_001370298.3(FGD4):c.2172+200G>A | not provided [RCV000839904] | benign | 12 | 32625979 | 32625979 | Human | | name |
| 14707710 | CV666822 | single nucleotide variant | NM_001370298.3(FGD4):c.2173-257C>T | not provided [RCV000826919] | benign | 12 | 32633292 | 32633292 | Human | | name |
| 150488568 | CV1274651 | single nucleotide variant | NM_001370298.3(FGD4):c.167-29719A>G | FGD4-related disorder [RCV003921349]|not provided [RCV004707678]|not specified [RCV001699889] | benign | 12 | 32534418 | 32534418 | Human | 1 | name , trait , alternate_id |
| 11611298 | CV316809 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61974A>C | Charcot-Marie-Tooth disease type 4H [RCV000392815] | uncertain significance | 12 | 32502163 | 32502163 | Human | 1 | name |
| 11601462 | CV316813 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61923G>A | Charcot-Marie-Tooth disease type 4H [RCV000282326]|not provided [RCV004693099] | uncertain significance | 12 | 32502214 | 32502214 | Human | 1 | name |
| 11612210 | CV316815 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61799G>C | Charcot-Marie-Tooth disease type 4H [RCV000405222]|not provided [RCV001712019] | benign|likely benign | 12 | 32502338 | 32502338 | Human | 1 | name |
| 11603939 | CV316816 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61790C>T | Charcot-Marie-Tooth disease type 4H [RCV000304485]|not provided [RCV001718627] | likely benign|uncertain significance | 12 | 32502347 | 32502347 | Human | 1 | name |
| 11620682 | CV324395 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61842A>G | Charcot-Marie-Tooth disease type 4H [RCV000339623] | uncertain significance | 12 | 32502295 | 32502295 | Human | 1 | name |
| 11647908 | CV330469 | single nucleotide variant | NM_001370298.3(FGD4):c.167-62000T>C | Charcot-Marie-Tooth disease type 4H [RCV000278905] | uncertain significance | 12 | 32502137 | 32502137 | Human | 1 | name |
| 11620403 | CV331848 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61986C>T | Charcot-Marie-Tooth disease type 4H [RCV000336355]|not provided [RCV001683240] | benign|likely benign | 12 | 32502151 | 32502151 | Human | 1 | name |
| 11667028 | CV353221 | single nucleotide variant | NM_001370298.3(FGD4):c.167-62037C>A | Charcot-Marie-Tooth disease type 4 [RCV000407557] | likely benign | 12 | 32502100 | 32502100 | Human | 1 | name |
| 598205295 | CV3896811 | single nucleotide variant | NM_001370298.3(FGD4):c.167-29682T>A | Charcot-Marie-Tooth disease [RCV005356989] | uncertain significance | 12 | 32534455 | 32534455 | Human | 1 | name |
| 13827614 | CV578499 | deletion | NM_001370298.3(FGD4):c.167-77996del | Charcot-Marie-Tooth disease type 4H [RCV000714783] | uncertain significance | 12 | 32486136 | 32486136 | Human | 1 | name |
| 21074245 | CV796754 | single nucleotide variant | NM_001370298.3(FGD4):c.167-29728T>C | Charcot-Marie-Tooth disease [RCV005359731]|not provided [RCV000994884] | uncertain significance | 12 | 32534409 | 32534409 | Human | 1 | name |
| 28911677 | CV869676 | single nucleotide variant | NM_001370298.3(FGD4):c.167-62008C>A | Charcot-Marie-Tooth disease type 4H [RCV001110947] | uncertain significance | 12 | 32502129 | 32502129 | Human | 1 | name |
| 28911655 | CV869677 | single nucleotide variant | NM_001370298.3(FGD4):c.167-62001C>G | Charcot-Marie-Tooth disease type 4H [RCV001110948] | uncertain significance | 12 | 32502136 | 32502136 | Human | 1 | name |
| 28911656 | CV869678 | single nucleotide variant | NM_001370298.3(FGD4):c.167-61986C>G | Charcot-Marie-Tooth disease type 4H [RCV001110949] | uncertain significance | 12 | 32502151 | 32502151 | Human | 1 | name |
| 150489980 | CV1250948 | microsatellite | NM_001370298.3(FGD4):c.504-285AAAT[2] | not provided [RCV001674615] | benign | 12 | 32581675 | 32581678 | Human | | name |
| 11624806 | CV330561 | deletion | NM_001370298.3(FGD4):c.*2928_*2931del | Charcot-Marie-Tooth disease type 4 [RCV000390748] | benign | 12 | 32643460 | 32643463 | Human | 1 | name |
| 11664470 | CV331957 | deletion | NM_001370298.3(FGD4):c.*3894_*3895del | Charcot-Marie-Tooth disease type 4 [RCV000405873] | uncertain significance | 12 | 32644426 | 32644427 | Human | 1 | name |
| 8634642 | CV89862 | single nucleotide variant | NM_139241.3(FGD4):c.15A>C (p.Lys5Asn) | Malignant melanoma [RCV000069959] | not provided | 12 | 32576372 | 32576372 | Human | | name |
| 127309595 | CV1122574 | microsatellite | NM_001370298.3(FGD4):c.1923-6_1923-2del | Charcot-Marie-Tooth disease type 4 [RCV001456354] | likely benign | 12 | 32624411 | 32624415 | Human | | name |
| 617152103 | CV4018296 | single nucleotide variant | NM_001370298.3(FGD4):c.165A>G (p.Thr55=) | not specified [RCV005418556] | uncertain significance | 12 | 32399958 | 32399958 | Human | | name |
| 15108800 | CV695560 | insertion | NM_001370298.3(FGD4):c.1543+8_1543+9insG | Charcot-Marie-Tooth disease type 4 [RCV001436251] | likely benign | 12 | 32608103 | 32608104 | Human | 1 | name |
| 127281805 | CV1101120 | single nucleotide variant | NM_001370298.3(FGD4):c.441T>C (p.Ser147=) | Charcot-Marie-Tooth disease type 4 [RCV001447380] | likely benign | 12 | 32576387 | 32576387 | Human | 1 | name |
| 127251976 | CV1101121 | single nucleotide variant | NM_001370298.3(FGD4):c.999C>T (p.His333=) | Charcot-Marie-Tooth disease type 4 [RCV001436661] | likely benign | 12 | 32582455 | 32582455 | Human | 1 | name |
| 127310782 | CV1143432 | single nucleotide variant | NM_001370298.3(FGD4):c.624G>A (p.Leu208=) | Charcot-Marie-Tooth disease type 4 [RCV001481229]|not provided [RCV004706202] | likely benign | 12 | 32582080 | 32582080 | Human | 1 | name |
| 127309605 | CV1143433 | single nucleotide variant | NM_001370298.3(FGD4):c.945A>G (p.Val315=) | Charcot-Marie-Tooth disease type 4 [RCV001480916] | likely benign | 12 | 32582401 | 32582401 | Human | 1 | name |
| 150336751 | CV1172412 | duplication | NM_001370298.3(FGD4):c.1953+40_1953+41dup | not provided [RCV001541163] | benign | 12 | 32624482 | 32624483 | Human | | name |
| 150463134 | CV1253761 | microsatellite | NM_001370298.3(FGD4):c.167-111_167-106del | not provided [RCV001669803] | benign | 12 | 32564015 | 32564020 | Human | | name |
| 152160481 | CV1530785 | single nucleotide variant | NM_001370298.3(FGD4):c.417G>A (p.Glu139=) | Charcot-Marie-Tooth disease type 4 [RCV002123097] | likely benign | 12 | 32576363 | 32576363 | Human | 1 | name |
| 152119001 | CV1558330 | single nucleotide variant | NM_001370298.3(FGD4):c.786G>A (p.Thr262=) | Charcot-Marie-Tooth disease type 4 [RCV002135464] | likely benign | 12 | 32582242 | 32582242 | Human | 1 | name |
| 152151962 | CV1572409 | single nucleotide variant | NM_001370298.3(FGD4):c.546G>A (p.Val182=) | Charcot-Marie-Tooth disease type 4 [RCV002139654] | likely benign | 12 | 32582002 | 32582002 | Human | 1 | name |
| 152133149 | CV1588352 | single nucleotide variant | NM_001370298.3(FGD4):c.831A>C (p.Ala277=) | Charcot-Marie-Tooth disease type 4 [RCV002199591] | likely benign | 12 | 32582287 | 32582287 | Human | 1 | name |
| 152043007 | CV1619751 | single nucleotide variant | NM_001370298.3(FGD4):c.720G>A (p.Glu240=) | Charcot-Marie-Tooth disease type 4 [RCV002188505] | likely benign | 12 | 32582176 | 32582176 | Human | 1 | name |
| 152040650 | CV1624762 | single nucleotide variant | NM_001370298.3(FGD4):c.696A>C (p.Ala232=) | Charcot-Marie-Tooth disease type 4 [RCV002165638] | likely benign | 12 | 32582152 | 32582152 | Human | 1 | name |
| 155698733 | CV1856809 | single nucleotide variant | NM_001370298.3(FGD4):c.501C>T (p.Gly167=) | not provided [RCV002444364] | not provided | 12 | 32576447 | 32576447 | Human | | name |
| 156383081 | CV1870509 | single nucleotide variant | NM_001370298.3(FGD4):c.621C>T (p.His207=) | Charcot-Marie-Tooth disease type 4 [RCV003067335] | likely benign | 12 | 32582077 | 32582077 | Human | 1 | name |
| 156411971 | CV1894113 | single nucleotide variant | NM_001370298.3(FGD4):c.840A>C (p.Thr280=) | Charcot-Marie-Tooth disease type 4 [RCV003072702] | likely benign | 12 | 32582296 | 32582296 | Human | 1 | name |
| 156140421 | CV1921767 | single nucleotide variant | NM_001370298.3(FGD4):c.831A>G (p.Ala277=) | Charcot-Marie-Tooth disease type 4 [RCV002623639] | likely benign | 12 | 32582287 | 32582287 | Human | 1 | name |
| 156244139 | CV1956859 | single nucleotide variant | NM_001370298.3(FGD4):c.510A>G (p.Leu170=) | Charcot-Marie-Tooth disease type 4 [RCV002576322] | likely benign | 12 | 32581966 | 32581966 | Human | 1 | name |
| 156235156 | CV2021558 | single nucleotide variant | NM_001370298.3(FGD4):c.609C>A (p.Leu203=) | Charcot-Marie-Tooth disease type 4 [RCV002745459] | likely benign | 12 | 32582065 | 32582065 | Human | 1 | name |
| 156327063 | CV2068698 | single nucleotide variant | NM_001370298.3(FGD4):c.600A>G (p.Gln200=) | Charcot-Marie-Tooth disease type 4 [RCV002835078] | likely benign | 12 | 32582056 | 32582056 | Human | 1 | name |
| 10408823 | CV213504 | single nucleotide variant | NM_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 significance | 12 | 32582122 | 32582122 | Human | 4 | name |
| 155998250 | CV2153002 | single nucleotide variant | NM_001370298.3(FGD4):c.798T>C (p.Asn266=) | Charcot-Marie-Tooth disease type 4 [RCV002996893] | likely benign | 12 | 32582254 | 32582254 | Human | 1 | name |
| 405136071 | CV2905929 | single nucleotide variant | NM_001370298.3(FGD4):c.996G>A (p.Gln332=) | Charcot-Marie-Tooth disease type 4 [RCV003583653] | likely benign | 12 | 32582452 | 32582452 | Human | 1 | name |
| 405078702 | CV3038412 | single nucleotide variant | NM_001370298.3(FGD4):c.888A>G (p.Pro296=) | Charcot-Marie-Tooth disease type 4 [RCV003743336] | likely benign | 12 | 32582344 | 32582344 | Human | 1 | name |
| 405089210 | CV3057631 | single nucleotide variant | NM_001370298.3(FGD4):c.435T>A (p.Ser145=) | Charcot-Marie-Tooth disease type 4 [RCV003745059] | likely benign | 12 | 32576381 | 32576381 | Human | 1 | name |
| 404990013 | CV3131958 | single nucleotide variant | NM_001370298.3(FGD4):c.867T>C (p.Ser289=) | Charcot-Marie-Tooth disease type 4 [RCV003827087] | likely benign | 12 | 32582323 | 32582323 | Human | 1 | name |
| 405043923 | CV3154108 | single nucleotide variant | NM_001370298.3(FGD4):c.675T>C (p.Cys225=) | Charcot-Marie-Tooth disease type 4 [RCV003848976] | likely benign | 12 | 32582131 | 32582131 | Human | 1 | name |
| 11623118 | CV331861 | single nucleotide variant | NM_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] | benign | 12 | 32582302 | 32582302 | Human | 3 | name |
| 596948388 | CV3549470 | single nucleotide variant | NM_001370298.3(FGD4):c.805A>C (p.Arg269=) | not provided [RCV004812291] | likely benign | 12 | 32582261 | 32582261 | Human | | name |
| 597859562 | CV3744659 | single nucleotide variant | NM_001370298.3(FGD4):c.519T>C (p.Tyr173=) | Charcot-Marie-Tooth disease type 4 [RCV005067204] | likely benign | 12 | 32581975 | 32581975 | Human | 1 | name |
| 597960750 | CV3840310 | single nucleotide variant | NM_001370298.3(FGD4):c.636G>A (p.Gln212=) | Charcot-Marie-Tooth disease type 4 [RCV005192794] | likely benign | 12 | 32582092 | 32582092 | Human | 1 | name |
| 597945562 | CV3844881 | single nucleotide variant | NM_001370298.3(FGD4):c.942G>A (p.Lys314=) | Charcot-Marie-Tooth disease type 4 [RCV005188867] | likely benign | 12 | 32582398 | 32582398 | Human | 1 | name |
| 597860107 | CV3850395 | single nucleotide variant | NM_001370298.3(FGD4):c.540T>A (p.Ser180=) | Charcot-Marie-Tooth disease type 4 [RCV005195728] | likely benign | 12 | 32581996 | 32581996 | Human | 1 | name |
| 598209958 | CV4007948 | single nucleotide variant | NM_001370298.3(FGD4):c.318A>G (p.Gln106=) | Charcot-Marie-Tooth disease type 4H [RCV005400262] | uncertain significance | 12 | 32564288 | 32564288 | Human | 1 | name |
| 598210005 | CV4007954 | single nucleotide variant | NM_001370298.3(FGD4):c.47G>T (p.Arg16Leu) | Charcot-Marie-Tooth disease type 4H [RCV005400268] | uncertain significance | 12 | 32399840 | 32399840 | Human | 1 | name |
| 13625932 | CV527140 | single nucleotide variant | NM_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 significance | 12 | 32582059 | 32582059 | Human | 3 | name , trait , alternate_id |
| 13626031 | CV527342 | single nucleotide variant | NM_001370298.3(FGD4):c.828T>A (p.Pro276=) | Charcot-Marie-Tooth disease type 4 [RCV000654269]|Inborn genetic diseases [RCV002331275] | likely benign | 12 | 32582284 | 32582284 | Human | 2 | name |
| 14742497 | CV656157 | single nucleotide variant | NM_001370298.3(FGD4):c.378C>A (p.Pro126=) | not provided [RCV000841434] | likely benign | 12 | 32576324 | 32576324 | Human | | name |
| 15109294 | CV693189 | single nucleotide variant | NM_001370298.3(FGD4):c.612C>T (p.Leu204=) | Charcot-Marie-Tooth disease [RCV001174093]|Charcot-Marie-Tooth disease type 4 [RCV000871870] | likely benign | 12 | 32582068 | 32582068 | Human | 2 | name |
| 15142159 | CV753334 | single nucleotide variant | NM_001370298.3(FGD4):c.468G>A (p.Lys156=) | Charcot-Marie-Tooth disease type 4 [RCV001413112] | likely benign | 12 | 32576414 | 32576414 | Human | 1 | name |
| 21072354 | CV791228 | single nucleotide variant | NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) | Charcot-Marie-Tooth disease type 4H [RCV000988805]|not provided [RCV004709016] | benign | 12 | 32399835 | 32399835 | Human | 4 | name |
| 21072354 | CV791228 | single nucleotide variant | NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) | Charcot-Marie-Tooth disease type 4H [RCV000988805]|not provided [RCV004709016] | benign | 12 | 32399835 | 32399836 | Human | 4 | name |
| 127268559 | CV1062601 | deletion | NM_001370298.3(FGD4):c.616del (p.Gln206fs) | Charcot-Marie-Tooth disease type 4 [RCV001389272] | pathogenic | 12 | 32582070 | 32582070 | Human | 1 | name |
| 127243806 | CV1079375 | single nucleotide variant | NM_001370298.3(FGD4):c.1113C>T (p.Cys371=) | Charcot-Marie-Tooth disease type 4 [RCV001398470] | likely benign | 12 | 32601289 | 32601289 | Human | 1 | name |
| 127275633 | CV1079376 | single nucleotide variant | NM_001370298.3(FGD4):c.1440T>C (p.His480=) | Charcot-Marie-Tooth disease type 4 [RCV001406793] | likely benign | 12 | 32607992 | 32607992 | Human | 1 | name |
| 127279357 | CV1101122 | single nucleotide variant | NM_001370298.3(FGD4):c.1488T>G (p.Leu496=) | Charcot-Marie-Tooth disease type 4 [RCV001445703] | likely benign | 12 | 32608040 | 32608040 | Human | 1 | name |
| 127274737 | CV1101123 | single nucleotide variant | NM_001370298.3(FGD4):c.1755C>T (p.Asn585=) | Charcot-Marie-Tooth disease type 4 [RCV001432054] | likely benign | 12 | 32619703 | 32619703 | Human | 1 | name |
| 127282044 | CV1101124 | single nucleotide variant | NM_001370298.3(FGD4):c.2262C>T (p.Ile754=) | Charcot-Marie-Tooth disease type 4 [RCV001447586] | likely benign | 12 | 32633638 | 32633638 | Human | 1 | name |
| 127256745 | CV1101125 | single nucleotide variant | NM_001370298.3(FGD4):c.2436C>T (p.Tyr812=) | Charcot-Marie-Tooth disease type 4 [RCV001426882] | likely benign | 12 | 32638777 | 32638777 | Human | 1 | name |
| 127293443 | CV1122572 | single nucleotide variant | NM_001370298.3(FGD4):c.1485C>T (p.Leu495=) | Charcot-Marie-Tooth disease type 4 [RCV001451994] | likely benign | 12 | 32608037 | 32608037 | Human | 1 | name |
| 127311076 | CV1122575 | single nucleotide variant | NM_001370298.3(FGD4):c.2433G>A (p.Leu811=) | Charcot-Marie-Tooth disease type 4 [RCV001456761] | likely benign | 12 | 32638774 | 32638774 | Human | 1 | name |
| 127333883 | CV1122576 | single nucleotide variant | NM_001370298.3(FGD4):c.2490C>T (p.Gly830=) | Charcot-Marie-Tooth disease type 4 [RCV001473201] | likely benign | 12 | 32640311 | 32640311 | Human | 1 | name |
| 127318359 | CV1122577 | single nucleotide variant | NM_001370298.3(FGD4):c.2559C>T (p.Ser853=) | Charcot-Marie-Tooth disease type 4 [RCV001466158] | likely benign | 12 | 32640380 | 32640380 | Human | 1 | name |
| 127314245 | CV1143434 | single nucleotide variant | NM_001370298.3(FGD4):c.1344A>G (p.Glu448=) | Charcot-Marie-Tooth disease type 4 [RCV001482176] | likely benign | 12 | 32602257 | 32602257 | Human | 1 | name |
| 127314214 | CV1143435 | single nucleotide variant | NM_001370298.3(FGD4):c.2067A>G (p.Arg689=) | Charcot-Marie-Tooth disease type 4 [RCV001502419] | likely benign | 12 | 32625674 | 32625674 | Human | 1 | name |
| 127328868 | CV1143436 | single nucleotide variant | NM_001370298.3(FGD4):c.2346G>T (p.Val782=) | Charcot-Marie-Tooth disease type 4 [RCV001487029] | likely benign | 12 | 32638687 | 32638687 | Human | 1 | name |
| 127301307 | CV1143437 | single nucleotide variant | NM_001370298.3(FGD4):c.2652A>G (p.Pro884=) | Charcot-Marie-Tooth disease type 4 [RCV001498787] | likely benign | 12 | 32640473 | 32640473 | Human | 1 | name |
| 127331989 | CV1143438 | single nucleotide variant | NM_001370298.3(FGD4):c.2685T>C (p.Pro895=) | Charcot-Marie-Tooth disease type 4 [RCV001489185] | likely benign | 12 | 32640506 | 32640506 | Human | 1 | name |
| 150487301 | CV1203440 | single nucleotide variant | NM_001370298.3(FGD4):c.2308T>C (p.Leu770=) | not provided [RCV001591618] | likely benign | 12 | 32633684 | 32633684 | Human | | name |
| 8691112 | CV141071 | single nucleotide variant | NM_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] | benign | 12 | 32611250 | 32611250 | Human | 3 | name |
| 8691113 | CV141072 | single nucleotide variant | NM_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] | benign | 12 | 32624428 | 32624428 | Human | 3 | name |
| 151731728 | CV1512180 | single nucleotide variant | NM_001370298.3(FGD4):c.1071T>G (p.Ala357=) | Charcot-Marie-Tooth disease type 4 [RCV002021367] | likely benign|uncertain significance | 12 | 32598556 | 32598556 | Human | 1 | name |
| 152084761 | CV1525538 | single nucleotide variant | NM_001370298.3(FGD4):c.2349G>A (p.Val783=) | Charcot-Marie-Tooth disease type 4 [RCV002131286] | likely benign | 12 | 32638690 | 32638690 | Human | 1 | name |
| 152106826 | CV1527439 | single nucleotide variant | NM_001370298.3(FGD4):c.2481A>T (p.Pro827=) | Charcot-Marie-Tooth disease type 4 [RCV002079717] | likely benign | 12 | 32640302 | 32640302 | Human | 1 | name |
| 152134790 | CV1528187 | single nucleotide variant | NM_001370298.3(FGD4):c.2472C>T (p.Ala824=) | Charcot-Marie-Tooth disease type 4 [RCV002099967] | likely benign | 12 | 32640293 | 32640293 | Human | 1 | name |
| 152084559 | CV1537602 | single nucleotide variant | NM_001370298.3(FGD4):c.2130T>C (p.Asn710=) | Charcot-Marie-Tooth disease type 4 [RCV002149752] | likely benign | 12 | 32625737 | 32625737 | Human | 1 | name |
| 152089561 | CV1541606 | single nucleotide variant | NM_001370298.3(FGD4):c.1338A>C (p.Ala446=) | Charcot-Marie-Tooth disease type 4 [RCV002171646] | likely benign | 12 | 32602251 | 32602251 | Human | 1 | name |
| 152084399 | CV1577037 | single nucleotide variant | NM_001370298.3(FGD4):c.1470C>A (p.Pro490=) | Charcot-Marie-Tooth disease type 4 [RCV002193438] | likely benign | 12 | 32608022 | 32608022 | Human | 1 | name |
| 152071268 | CV1591558 | single nucleotide variant | NM_001370298.3(FGD4):c.1413A>G (p.Lys471=) | Charcot-Marie-Tooth disease type 4 [RCV002210010] | likely benign | 12 | 32607965 | 32607965 | Human | 1 | name |
| 152170825 | CV1592597 | single nucleotide variant | NM_001370298.3(FGD4):c.2562G>T (p.Val854=) | Charcot-Marie-Tooth disease type 4 [RCV002161899] | likely benign | 12 | 32640383 | 32640383 | Human | 1 | name |
| 152078132 | CV1602056 | single nucleotide variant | NM_001370298.3(FGD4):c.1906C>T (p.Leu636=) | Charcot-Marie-Tooth disease type 4 [RCV002148961] | likely benign | 12 | 32619854 | 32619854 | Human | 1 | name |
| 152098068 | CV1611646 | single nucleotide variant | NM_001370298.3(FGD4):c.2475C>T (p.Thr825=) | Charcot-Marie-Tooth disease type 4 [RCV002172734] | likely benign | 12 | 32640296 | 32640296 | Human | 1 | name |
| 152066497 | CV1620198 | single nucleotide variant | NM_001370298.3(FGD4):c.2220T>C (p.Asp740=) | Charcot-Marie-Tooth disease type 4 [RCV002209416] | likely benign | 12 | 32633596 | 32633596 | Human | 1 | name |
| 152143388 | CV1651474 | single nucleotide variant | NM_001370298.3(FGD4):c.1929G>T (p.Ala643=) | Charcot-Marie-Tooth disease type 4 [RCV002138457] | likely benign | 12 | 32624428 | 32624428 | Human | 1 | name |
| 152172711 | CV1652666 | single nucleotide variant | NM_001370298.3(FGD4):c.2055G>A (p.Glu685=) | Charcot-Marie-Tooth disease type 4 [RCV002143868] | likely benign | 12 | 32625662 | 32625662 | Human | 1 | name |
| 156050293 | CV1867671 | single nucleotide variant | NM_001370298.3(FGD4):c.2313G>A (p.Glu771=) | not provided [RCV002510143] | uncertain significance | 12 | 32633689 | 32633689 | Human | | name |
| 155964120 | CV1881939 | single nucleotide variant | NM_001370298.3(FGD4):c.1548A>G (p.Ser516=) | Charcot-Marie-Tooth disease type 4 [RCV003074841] | likely benign | 12 | 32610780 | 32610780 | Human | 1 | name |
| 10047853 | CV191443 | single nucleotide variant | NM_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 [RCV000174615] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32624993 | 32624993 | Human | 4 | name , trait , alternate_id |
| 10047906 | CV191601 | single nucleotide variant | NM_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 [RCV000174806] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32625677 | 32625677 | Human | 4 | name , trait , alternate_id |
| 156410705 | CV1929048 | single nucleotide variant | NM_001370298.3(FGD4):c.1788C>T (p.Ser596=) | Charcot-Marie-Tooth disease type 4 [RCV002607954] | likely benign | 12 | 32619736 | 32619736 | Human | 1 | name |
| 156312910 | CV1931191 | single nucleotide variant | NM_001370298.3(FGD4):c.1077C>T (p.Val359=) | Charcot-Marie-Tooth disease type 4 [RCV002629883] | likely benign | 12 | 32598562 | 32598562 | Human | 1 | name |
| 156067200 | CV2018392 | single nucleotide variant | NM_001370298.3(FGD4):c.1545A>G (p.Lys515=) | Charcot-Marie-Tooth disease type 4 [RCV002705568] | likely benign | 12 | 32610777 | 32610777 | Human | 1 | name |
| 156233095 | CV2021279 | single nucleotide variant | NM_001370298.3(FGD4):c.1866A>G (p.Glu622=) | Charcot-Marie-Tooth disease type 4 [RCV002745381] | likely benign | 12 | 32619814 | 32619814 | Human | 1 | name |
| 156274869 | CV2023424 | single nucleotide variant | NM_001370298.3(FGD4):c.1893G>A (p.Gly631=) | Charcot-Marie-Tooth disease type 4 [RCV002746764] | likely benign | 12 | 32619841 | 32619841 | Human | 1 | name |
| 155955291 | CV2077565 | single nucleotide variant | NM_001370298.3(FGD4):c.2076A>G (p.Arg692=) | Charcot-Marie-Tooth disease type 4 [RCV002880730] | likely benign | 12 | 32625683 | 32625683 | Human | 1 | name |
| 156019073 | CV2114725 | single nucleotide variant | NM_001370298.3(FGD4):c.2457C>T (p.Asp819=) | Charcot-Marie-Tooth disease type 4 [RCV002909522] | likely benign | 12 | 32640278 | 32640278 | Human | 1 | name |
| 156018673 | CV2120743 | single nucleotide variant | NM_001370298.3(FGD4):c.1200C>T (p.Phe400=) | Charcot-Marie-Tooth disease type 4 [RCV002976039]|FGD4-related disorder [RCV003943675] | likely benign | 12 | 32601376 | 32601376 | Human | 2 | name , trait , alternate_id |
| 156125956 | CV2124900 | single nucleotide variant | NM_001370298.3(FGD4):c.2325A>G (p.Ala775=) | Charcot-Marie-Tooth disease type 4 [RCV002953686] | likely benign | 12 | 32638666 | 32638666 | Human | 1 | name |
| 156067749 | CV2147814 | single nucleotide variant | NM_001370298.3(FGD4):c.2230T>C (p.Leu744=) | Charcot-Marie-Tooth disease type 4 [RCV003037471] | likely benign | 12 | 32633606 | 32633606 | Human | 1 | name |
| 401931978 | CV2806845 | single nucleotide variant | NM_001370298.3(FGD4):c.1098T>C (p.Asp366=) | not provided [RCV003391699] | likely benign | 12 | 32598583 | 32598583 | Human | | name |
| 405140291 | CV2929665 | single nucleotide variant | NM_001370298.3(FGD4):c.1368T>A (p.Arg456=) | Charcot-Marie-Tooth disease type 4 [RCV003583976] | likely benign | 12 | 32602281 | 32602281 | Human | 1 | name |
| 405095309 | CV2950071 | single nucleotide variant | NM_001370298.3(FGD4):c.1608C>T (p.Asn536=) | Charcot-Marie-Tooth disease type 4 [RCV003745791] | likely benign | 12 | 32611142 | 32611142 | Human | 1 | name |
| 405246213 | CV2956294 | single nucleotide variant | NM_001370298.3(FGD4):c.1014G>A (p.Glu338=) | Charcot-Marie-Tooth disease type 4 [RCV003745907] | likely benign | 12 | 32598499 | 32598499 | Human | 1 | name |
| 405090199 | CV3070049 | single nucleotide variant | NM_001370298.3(FGD4):c.2292G>A (p.Lys764=) | Charcot-Marie-Tooth disease type 4 [RCV003745141] | likely benign | 12 | 32633668 | 32633668 | Human | 1 | name |
| 404976899 | CV3123654 | single nucleotide variant | NM_001370298.3(FGD4):c.1632T>C (p.Tyr544=) | Charcot-Marie-Tooth disease type 4 [RCV003825080] | likely benign | 12 | 32611166 | 32611166 | Human | 1 | name |
| 405238183 | CV3167037 | single nucleotide variant | NM_001370298.3(FGD4):c.1005G>A (p.Glu335=) | Charcot-Marie-Tooth disease type 4 [RCV003854292] | likely benign | 12 | 32582461 | 32582461 | Human | 1 | name |
| 11601099 | CV316822 | single nucleotide variant | NM_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 significance | 12 | 32602176 | 32602176 | Human | 3 | name |
| 11607153 | CV316836 | single nucleotide variant | NM_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 benign | 12 | 32608022 | 32608022 | Human | 2 | name , trait , alternate_id |
| 402467080 | CV3177747 | single nucleotide variant | NM_001370298.3(FGD4):c.2700A>G (p.Lys900=) | Charcot-Marie-Tooth disease type 4 [RCV003873185] | likely benign | 12 | 32640521 | 32640521 | Human | 1 | name |
| 402514961 | CV3178852 | single nucleotide variant | NM_001370298.3(FGD4):c.2421C>T (p.Asp807=) | Charcot-Marie-Tooth disease type 4 [RCV003879285] | likely benign | 12 | 32638762 | 32638762 | Human | 1 | name |
| 404989166 | CV3179947 | single nucleotide variant | NM_001370298.3(FGD4):c.2679T>C (p.Asp893=) | Charcot-Marie-Tooth disease type 4 [RCV003881425] | likely benign | 12 | 32640500 | 32640500 | Human | 1 | name |
| 11659803 | CV324396 | single nucleotide variant | NM_001370298.3(FGD4):c.268A>T (p.Ile90Leu) | Charcot-Marie-Tooth disease type 4H [RCV000361572] | uncertain significance | 12 | 32564238 | 32564238 | Human | 1 | name |
| 11620194 | CV330495 | single nucleotide variant | NM_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 [RCV000604589] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32601319 | 32601319 | Human | 4 | name , trait , alternate_id |
| 11621357 | CV330497 | single nucleotide variant | NM_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 benign | 12 | 32624425 | 32624425 | Human | 3 | name , trait , alternate_id |
| 12842569 | CV373199 | single nucleotide variant | NM_001370298.3(FGD4):c.2193C>T (p.Ser731=) | Charcot-Marie-Tooth disease type 4 [RCV000874212]|Inborn genetic diseases [RCV002402146]|not specified [RCV000434658] | likely benign | 12 | 32633569 | 32633569 | Human | 2 | name |
| 597916003 | CV3737333 | single nucleotide variant | NM_001370298.3(FGD4):c.1119G>A (p.Leu373=) | Charcot-Marie-Tooth disease type 4 [RCV005074122] | likely benign | 12 | 32601295 | 32601295 | Human | 1 | name |
| 597830378 | CV3742996 | single nucleotide variant | NM_001370298.3(FGD4):c.1134C>T (p.Asn378=) | Charcot-Marie-Tooth disease type 4 [RCV005062004] | likely benign | 12 | 32601310 | 32601310 | Human | 1 | name |
| 12846946 | CV375047 | single nucleotide variant | NM_001370298.3(FGD4):c.176C>G (p.Thr59Ser) | not specified [RCV000442613] | likely benign | 12 | 32564146 | 32564146 | Human | | name |
| 597838207 | CV3758188 | single nucleotide variant | NM_001370298.3(FGD4):c.1218G>A (p.Leu406=) | Charcot-Marie-Tooth disease type 4 [RCV005086022] | likely benign | 12 | 32601394 | 32601394 | Human | 1 | name |
| 597835075 | CV3760896 | single nucleotide variant | NM_001370298.3(FGD4):c.2169A>T (p.Gly723=) | Charcot-Marie-Tooth disease type 4 [RCV005085447] | likely benign | 12 | 32625776 | 32625776 | Human | 1 | name |
| 597911560 | CV3782179 | single nucleotide variant | NM_001370298.3(FGD4):c.2208A>G (p.Gln736=) | Charcot-Marie-Tooth disease type 4 [RCV005128672] | likely benign | 12 | 32633584 | 32633584 | Human | 1 | name |
| 597964008 | CV3792106 | single nucleotide variant | NM_001370298.3(FGD4):c.2529A>G (p.Pro843=) | Charcot-Marie-Tooth disease type 4 [RCV005139662] | likely benign | 12 | 32640350 | 32640350 | Human | 1 | name |
| 597848187 | CV3824004 | single nucleotide variant | NM_001370298.3(FGD4):c.2577A>G (p.Ala859=) | Charcot-Marie-Tooth disease type 4 [RCV005173243] | likely benign | 12 | 32640398 | 32640398 | Human | 1 | name |
| 597965221 | CV3826834 | single nucleotide variant | NM_001370298.3(FGD4):c.2469G>A (p.Gln823=) | Charcot-Marie-Tooth disease type 4 [RCV005164863] | likely benign | 12 | 32640290 | 32640290 | Human | 1 | name |
| 597933489 | CV3858628 | single nucleotide variant | NM_001370298.3(FGD4):c.1455T>C (p.Pro485=) | Charcot-Marie-Tooth disease type 4 [RCV005207098] | likely benign | 12 | 32608007 | 32608007 | Human | 1 | name |
| 598124015 | CV3883098 | single nucleotide variant | NM_001370298.3(FGD4):c.1281G>A (p.Gln427=) | Charcot-Marie-Tooth disease type 4H [RCV005234631] | likely benign | 12 | 32602194 | 32602194 | Human | 1 | name |
| 12883648 | CV399440 | single nucleotide variant | NM_001370298.3(FGD4):c.2625T>C (p.Ala875=) | Charcot-Marie-Tooth disease type 4 [RCV001488811]|Inborn genetic diseases [RCV002429596] | likely benign | 12 | 32640446 | 32640446 | Human | 2 | name |
| 13476982 | CV441537 | single nucleotide variant | NM_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 significance | 12 | 32624993 | 32624993 | Human | 2 | name |
| 13479388 | CV462377 | single nucleotide variant | NM_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 benign | 12 | 32602209 | 32602209 | Human | 3 | name |
| 13473770 | CV462894 | single nucleotide variant | NM_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 benign | 12 | 32638714 | 32638714 | Human | 3 | name |
| 13535958 | CV504106 | single nucleotide variant | NM_001370298.3(FGD4):c.2148G>A (p.Arg716=) | Charcot-Marie-Tooth disease type 4 [RCV001416107]|Inborn genetic diseases [RCV002404684]|not specified [RCV000608308] | likely benign | 12 | 32625755 | 32625755 | Human | 2 | name |
| 13540325 | CV504395 | single nucleotide variant | NM_001370298.3(FGD4):c.2451C>T (p.Pro817=) | Charcot-Marie-Tooth disease type 4 [RCV003744605]|not specified [RCV000614541] | likely benign | 12 | 32638792 | 32638792 | Human | 1 | name |
| 13625994 | CV527104 | single nucleotide variant | NM_001370298.3(FGD4):c.2517C>T (p.Ser839=) | Charcot-Marie-Tooth disease type 4 [RCV000654239]|Inborn genetic diseases [RCV002422423] | likely benign | 12 | 32640338 | 32640338 | Human | 2 | name |
| 13626038 | CV527148 | single nucleotide variant | NM_001370298.3(FGD4):c.2361T>G (p.Leu787=) | Charcot-Marie-Tooth disease type 4 [RCV000654277]|Inborn genetic diseases [RCV002422424] | likely benign | 12 | 32638702 | 32638702 | Human | 2 | name |
| 13625983 | CV527352 | single nucleotide variant | NM_001370298.3(FGD4):c.1194T>C (p.Asn398=) | Charcot-Marie-Tooth disease type 4 [RCV000654208]|Inborn genetic diseases [RCV002406480]|not provided [RCV003884697] | likely benign | 12 | 32601370 | 32601370 | Human | 2 | name |
| 13626016 | CV527356 | single nucleotide variant | NM_001370298.3(FGD4):c.1605G>A (p.Glu535=) | Charcot-Marie-Tooth disease type 4 [RCV000654219] | likely benign | 12 | 32611139 | 32611139 | Human | 1 | name |
| 13626028 | CV527358 | single nucleotide variant | NM_001370298.3(FGD4):c.2133A>G (p.Ala711=) | Charcot-Marie-Tooth disease type 4 [RCV001472776]|Inborn genetic diseases [RCV002406484] | likely benign | 12 | 32625740 | 32625740 | Human | 2 | name |
| 14696573 | CV590025 | deletion | NM_001370298.3(FGD4):c.925del (p.Ala309fs) | Charcot-Marie-Tooth disease type 4H [RCV000782173] | pathogenic | 12 | 32582378 | 32582378 | Human | 1 | name |
| 14699642 | CV625276 | duplication | NM_001370298.3(FGD4):c.925dup (p.Ala309fs) | Charcot-Marie-Tooth disease [RCV000789102]|Charcot-Marie-Tooth disease type 4H [RCV003447170] | uncertain significance | 12 | 32582377 | 32582378 | Human | 2 | name |
| 15123752 | CV684323 | single nucleotide variant | NM_001370298.3(FGD4):c.1842A>G (p.Lys614=) | Charcot-Marie-Tooth disease type 4 [RCV001504883] | likely benign | 12 | 32619790 | 32619790 | Human | 1 | name |
| 15137858 | CV687980 | single nucleotide variant | NM_001370298.3(FGD4):c.1809A>T (p.Thr603=) | Charcot-Marie-Tooth disease type 4 [RCV001504427] | likely benign | 12 | 32619757 | 32619757 | Human | 1 | name |
| 15146894 | CV687981 | single nucleotide variant | NM_001370298.3(FGD4):c.1905A>G (p.Thr635=) | not provided [RCV000866343] | likely benign | 12 | 32619853 | 32619853 | Human | | name |
| 15129940 | CV693190 | single nucleotide variant | NM_001370298.3(FGD4):c.1170C>A (p.Ile390=) | Charcot-Marie-Tooth disease type 4 [RCV005056645] | likely benign | 12 | 32601346 | 32601346 | Human | 1 | name |
| 15106645 | CV693191 | single nucleotide variant | NM_001370298.3(FGD4):c.2070C>A (p.Ala690=) | Charcot-Marie-Tooth disease type 4 [RCV000871342] | likely benign | 12 | 32625677 | 32625677 | Human | 1 | name |
| 15132936 | CV693192 | single nucleotide variant | NM_001370298.3(FGD4):c.2169A>C (p.Gly723=) | Charcot-Marie-Tooth disease type 4 [RCV002064842] | likely benign | 12 | 32625776 | 32625776 | Human | 1 | name |
| 15114253 | CV693193 | single nucleotide variant | NM_001370298.3(FGD4):c.2616C>T (p.Ile872=) | Charcot-Marie-Tooth disease type 4 [RCV000872917]|not provided [RCV003392654] | likely benign | 12 | 32640437 | 32640437 | Human | 1 | name |
| 15126034 | CV769095 | single nucleotide variant | NM_001370298.3(FGD4):c.1284A>G (p.Lys428=) | Charcot-Marie-Tooth disease type 4 [RCV001414915] | likely benign | 12 | 32602197 | 32602197 | Human | 1 | name |
| 15180212 | CV769096 | single nucleotide variant | NM_001370298.3(FGD4):c.2331A>G (p.Val777=) | Charcot-Marie-Tooth disease type 4 [RCV000929829] | likely benign | 12 | 32638672 | 32638672 | Human | 1 | name |
| 21406378 | CV799679 | duplication | NM_001370298.3(FGD4):c.905dup (p.Leu304fs) | Charcot-Marie-Tooth disease, type 4H [RCV001002593] | likely pathogenic | 12 | 32582360 | 32582361 | Human | | name |
| 26891961 | CV839856 | single nucleotide variant | NM_001370298.3(FGD4):c.2499G>A (p.Val833=) | Charcot-Marie-Tooth disease type 4 [RCV001068478] | likely benign|uncertain significance | 12 | 32640320 | 32640320 | Human | 1 | name |
| 28869245 | CV869680 | single nucleotide variant | NM_001370298.3(FGD4):c.1980T>C (p.Phe660=) | Charcot-Marie-Tooth disease type 4H [RCV001113028] | uncertain significance | 12 | 32625002 | 32625002 | Human | 1 | name |
| 34890545 | CV905361 | single nucleotide variant | NM_001370298.3(FGD4):c.1609C>T (p.Leu537=) | Charcot-Marie-Tooth disease [RCV001174094]|Charcot-Marie-Tooth disease type 4 [RCV002558762] | likely benign | 12 | 32611143 | 32611143 | Human | 2 | name |
| 34890556 | CV905362 | single nucleotide variant | NM_001370298.3(FGD4):c.1824T>G (p.Val608=) | Charcot-Marie-Tooth disease [RCV001174103] | likely benign | 12 | 32619772 | 32619772 | Human | 1 | name |
| 34890551 | CV905364 | single nucleotide variant | NM_001370298.3(FGD4):c.2631A>G (p.Thr877=) | Charcot-Marie-Tooth disease [RCV001174099] | likely benign | 12 | 32640452 | 32640452 | Human | 1 | name |
| 126770667 | CV1010399 | single nucleotide variant | NM_001370298.3(FGD4):c.412A>G (p.Met138Val) | Charcot-Marie-Tooth disease type 4 [RCV001322711] | uncertain significance | 12 | 32576358 | 32576358 | Human | 1 | name |
| 126768223 | CV1010400 | single nucleotide variant | NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr) | Charcot-Marie-Tooth disease type 4 [RCV001321243] | uncertain significance | 12 | 32576376 | 32576376 | Human | 1 | name |
| 126765590 | CV1010401 | single nucleotide variant | NM_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 significance | 12 | 32576379 | 32576379 | Human | 2 | name |
| 126732194 | CV1030905 | single nucleotide variant | NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu) | Charcot-Marie-Tooth disease type 4 [RCV001349559] | uncertain significance | 12 | 32576434 | 32576434 | Human | 1 | name |
| 126767106 | CV1030906 | single nucleotide variant | NM_001370298.3(FGD4):c.764C>T (p.Ala255Val) | Charcot-Marie-Tooth disease type 4 [RCV001342689] | uncertain significance | 12 | 32582220 | 32582220 | Human | 1 | name |
| 126917255 | CV1047912 | single nucleotide variant | NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys) | Charcot-Marie-Tooth disease type 4 [RCV001361060]|not provided [RCV002462954] | uncertain significance | 12 | 32582405 | 32582405 | Human | 1 | name |
| 127288175 | CV1152489 | single nucleotide variant | NM_001370298.3(FGD4):c.658C>T (p.Gln220Ter) | not provided [RCV001508326] | likely pathogenic | 12 | 32582114 | 32582114 | Human | | name |
| 127292348 | CV1162022 | single nucleotide variant | NM_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 significance | 12 | 32582245 | 32582245 | Human | 2 | name |
| 150496820 | CV1208649 | microsatellite | NM_001370298.3(FGD4):c.2046+264_2046+265del | not provided [RCV001593865] | likely benign | 12 | 32625329 | 32625330 | Human | | name |
| 150529641 | CV1292905 | single nucleotide variant | NM_001370298.3(FGD4):c.556G>C (p.Ala186Pro) | not provided [RCV001756298] | uncertain significance | 12 | 32582012 | 32582012 | Human | | name |
| 151868064 | CV1366752 | duplication | NM_001370298.3(FGD4):c.2444dup (p.Ala816fs) | Charcot-Marie-Tooth disease type 4 [RCV001939418] | pathogenic | 12 | 32638783 | 32638784 | Human | 1 | name |
| 151743611 | CV1387251 | single nucleotide variant | NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe) | Charcot-Marie-Tooth disease type 4 [RCV001985486] | uncertain significance | 12 | 32582130 | 32582130 | Human | 1 | name |
| 151713680 | CV1476658 | single nucleotide variant | NM_001370298.3(FGD4):c.755C>G (p.Ser252Cys) | Charcot-Marie-Tooth disease type 4 [RCV001908524] | uncertain significance | 12 | 32582211 | 32582211 | Human | 1 | name |
| 151870825 | CV1488595 | single nucleotide variant | NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser) | Charcot-Marie-Tooth disease type 4 [RCV002035643] | uncertain significance | 12 | 32582127 | 32582127 | Human | 1 | name |
| 151734783 | CV1508742 | deletion | NM_001370298.3(FGD4):c.2663del (p.Pro888fs) | Charcot-Marie-Tooth disease type 4 [RCV002021676] | uncertain significance | 12 | 32640483 | 32640483 | Human | 1 | name |
| 151798603 | CV1509192 | single nucleotide variant | NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu) | Charcot-Marie-Tooth disease type 4 [RCV001866921] | uncertain significance | 12 | 32576403 | 32576403 | Human | 1 | name |
| 155672462 | CV1799151 | single nucleotide variant | NM_001370298.3(FGD4):c.904C>G (p.Leu302Val) | Inborn genetic diseases [RCV002351305] | uncertain significance | 12 | 32582360 | 32582360 | Human | 1 | name |
| 155734009 | CV1802188 | single nucleotide variant | NM_001370298.3(FGD4):c.899C>G (p.Pro300Arg) | Inborn genetic diseases [RCV002340532] | uncertain significance | 12 | 32582355 | 32582355 | Human | 1 | name |
| 155720991 | CV1805483 | single nucleotide variant | NM_001370298.3(FGD4):c.892A>G (p.Ile298Val) | Inborn genetic diseases [RCV002338003] | likely benign | 12 | 32582348 | 32582348 | Human | 1 | name |
| 155740270 | CV1809298 | single nucleotide variant | NM_001370298.3(FGD4):c.908C>G (p.Pro303Arg) | Inborn genetic diseases [RCV002342890] | uncertain significance | 12 | 32582364 | 32582364 | Human | 1 | name |
| 155700273 | CV1821048 | single nucleotide variant | NM_001370298.3(FGD4):c.500G>A (p.Gly167Asp) | Inborn genetic diseases [RCV002376330] | uncertain significance | 12 | 32576446 | 32576446 | Human | 1 | name |
| 155683548 | CV1830248 | single nucleotide variant | NM_001370298.3(FGD4):c.559C>T (p.Pro187Ser) | Inborn genetic diseases [RCV002389659] | likely benign | 12 | 32582015 | 32582015 | Human | 1 | name |
| 155724679 | CV1838113 | deletion | NM_001370298.3(FGD4):c.2104del (p.Cys702fs) | Inborn genetic diseases [RCV002406188] | pathogenic | 12 | 32625711 | 32625711 | Human | 1 | name |
| 156062386 | CV1888585 | single nucleotide variant | NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln) | Charcot-Marie-Tooth disease type 4 [RCV003079270] | uncertain significance | 12 | 32576439 | 32576439 | Human | 1 | name |
| 156380804 | CV1927536 | single nucleotide variant | NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn) | Charcot-Marie-Tooth disease type 4 [RCV002634253] | uncertain significance | 12 | 32582099 | 32582099 | Human | 1 | name |
| 10048752 | CV194535 | single nucleotide variant | NM_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 significance | 12 | 32582302 | 32582302 | Human | 3 | name , trait , alternate_id |
| 156066064 | CV1952247 | duplication | NM_001370298.3(FGD4):c.1573dup (p.Ser525fs) | Charcot-Marie-Tooth disease type 4H [RCV002569459] | likely pathogenic | 12 | 32610803 | 32610804 | Human | 1 | name |
| 156410532 | CV1958417 | single nucleotide variant | NM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr) | Charcot-Marie-Tooth disease type 4 [RCV002587183] | uncertain significance | 12 | 32582264 | 32582264 | Human | 1 | name |
| 156393220 | CV2002332 | single nucleotide variant | NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser) | Charcot-Marie-Tooth disease type 4 [RCV002680970] | uncertain significance | 12 | 32582141 | 32582141 | Human | 1 | name |
| 155944239 | CV2032566 | single nucleotide variant | NM_001370298.3(FGD4):c.824C>A (p.Ala275Asp) | Charcot-Marie-Tooth disease type 4 [RCV002730309] | uncertain significance | 12 | 32582280 | 32582280 | Human | 1 | name |
| 156107295 | CV2038583 | single nucleotide variant | NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe) | Charcot-Marie-Tooth disease type 4 [RCV002761548] | uncertain significance | 12 | 32582070 | 32582070 | Human | 1 | name |
| 155937890 | CV2054694 | duplication | NM_001370298.3(FGD4):c.2452dup (p.Gln818fs) | Charcot-Marie-Tooth disease type 4 [RCV002815496] | pathogenic | 12 | 32638787 | 32638788 | Human | 1 | name |
| 156332452 | CV2061447 | single nucleotide variant | NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly) | Charcot-Marie-Tooth disease type 4 [RCV002810759] | uncertain significance | 12 | 32581992 | 32581992 | Human | 1 | name |
| 156164046 | CV2097017 | single nucleotide variant | NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser) | Charcot-Marie-Tooth disease type 4 [RCV002872767] | uncertain significance | 12 | 32582363 | 32582363 | Human | 1 | name |
| 156322275 | CV2101122 | single nucleotide variant | NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro) | Charcot-Marie-Tooth disease type 4 [RCV002899382] | uncertain significance | 12 | 32582279 | 32582279 | Human | 1 | name |
| 156164491 | CV2135771 | single nucleotide variant | NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr) | Charcot-Marie-Tooth disease type 4 [RCV002983131] | uncertain significance | 12 | 32582318 | 32582318 | Human | 1 | name |
| 156311670 | CV2165467 | single nucleotide variant | NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter) | Charcot-Marie-Tooth disease type 4 [RCV003028617] | pathogenic | 12 | 32582450 | 32582450 | Human | 1 | name |
| 243059005 | CV2410067 | single nucleotide variant | NM_001370298.3(FGD4):c.752C>T (p.Thr251Ile) | Charcot-Marie-Tooth disease type 4H [RCV003147241] | uncertain significance | 12 | 32582208 | 32582208 | Human | 1 | name |
| 243059006 | CV2410068 | single nucleotide variant | NM_001370298.3(FGD4):c.827C>T (p.Pro276Leu) | Charcot-Marie-Tooth disease type 4H [RCV003147242] | uncertain significance | 12 | 32582283 | 32582283 | Human | 1 | name |
| 243059007 | CV2410069 | single nucleotide variant | NM_001370298.3(FGD4):c.962G>A (p.Gly321Glu) | Charcot-Marie-Tooth disease type 4H [RCV003147243] | uncertain significance | 12 | 32582418 | 32582418 | Human | 1 | name |
| 11350132 | CV243836 | single nucleotide variant | NM_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 significance | 12 | 32582196 | 32582196 | Human | 3 | name |
| 11523917 | CV244817 | single nucleotide variant | NM_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 significance | 12 | 32576407 | 32576407 | Human | 3 | name |
| 11523791 | CV244818 | single nucleotide variant | NM_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 significance | 12 | 32582248 | 32582248 | Human | 3 | name |
| 11523688 | CV244819 | single nucleotide variant | NM_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 significance | 12 | 32582346 | 32582346 | Human | 4 | name |
| 11523987 | CV244820 | single nucleotide variant | NM_001370298.3(FGD4):c.895G>C (p.Gly299Arg) | not provided [RCV000236896] | uncertain significance | 12 | 32582351 | 32582351 | Human | | name |
| 11524000 | CV244821 | single nucleotide variant | NM_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 significance | 12 | 32582436 | 32582436 | Human | 3 | name |
| 11611565 | CV316818 | single nucleotide variant | NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr) | Charcot-Marie-Tooth disease type 4H [RCV000396677]|not provided [RCV001092390]|not specified [RCV000439988] | likely benign|uncertain significance | 12 | 32576322 | 32576322 | Human | 1 | name |
| 11600348 | CV316820 | single nucleotide variant | NM_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 significance | 12 | 32582265 | 32582265 | Human | 3 | name |
| 405759332 | CV3253537 | single nucleotide variant | NM_001370298.3(FGD4):c.434C>T (p.Ser145Phe) | Inborn genetic diseases [RCV004393971] | uncertain significance | 12 | 32576380 | 32576380 | Human | 1 | name |
| 405759338 | CV3253538 | single nucleotide variant | NM_001370298.3(FGD4):c.698C>G (p.Ala233Gly) | Inborn genetic diseases [RCV004393972] | uncertain significance | 12 | 32582154 | 32582154 | Human | 1 | name |
| 11614398 | CV330492 | single nucleotide variant | NM_001370298.3(FGD4):c.980T>C (p.Leu327Pro) | Charcot-Marie-Tooth disease type 4H [RCV000276768] | uncertain significance | 12 | 32582436 | 32582436 | Human | 1 | name |
| 11622858 | CV331849 | single nucleotide variant | NM_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 significance | 12 | 32582177 | 32582177 | Human | 3 | name |
| 597653539 | CV3672595 | single nucleotide variant | NM_001370298.3(FGD4):c.544G>A (p.Val182Met) | Inborn genetic diseases [RCV004975057] | uncertain significance | 12 | 32582000 | 32582000 | Human | 1 | name |
| 597653552 | CV3672598 | single nucleotide variant | NM_001370298.3(FGD4):c.970C>A (p.Pro324Thr) | Inborn genetic diseases [RCV004975059] | uncertain significance | 12 | 32582426 | 32582426 | Human | 1 | name |
| 597904118 | CV3793221 | single nucleotide variant | NM_001370298.3(FGD4):c.601C>T (p.Gln201Ter) | Charcot-Marie-Tooth disease type 4 [RCV005153189] | pathogenic | 12 | 32582057 | 32582057 | Human | 1 | name |
| 597955196 | CV3796149 | single nucleotide variant | NM_001370298.3(FGD4):c.664G>T (p.Ala222Ser) | Charcot-Marie-Tooth disease type 4 [RCV005136966] | uncertain significance | 12 | 32582120 | 32582120 | Human | 1 | name |
| 597965963 | CV3823651 | duplication | NM_001370298.3(FGD4):c.2058dup (p.Gly687fs) | Charcot-Marie-Tooth disease type 4 [RCV005165071] | pathogenic | 12 | 32625664 | 32625665 | Human | 1 | name |
| 12886627 | CV398958 | single nucleotide variant | NM_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 benign | 12 | 32582103 | 32582103 | Human | 4 | name , trait , alternate_id |
| 12890261 | CV399675 | deletion | NM_001370298.3(FGD4):c.2452del (p.Gln818fs) | Charcot-Marie-Tooth disease type 4 [RCV000474290] | pathogenic|uncertain significance | 12 | 32638788 | 32638788 | Human | 1 | name |
| 13471450 | CV444976 | duplication | NM_001370298.3(FGD4):c.2416dup (p.Gln806fs) | not provided [RCV000518861] | likely pathogenic | 12 | 32638756 | 32638757 | Human | | name |
| 13481447 | CV462892 | single nucleotide variant | NM_001370298.3(FGD4):c.950A>G (p.Glu317Gly) | Charcot-Marie-Tooth disease type 4 [RCV000551434] | uncertain significance | 12 | 32582406 | 32582406 | Human | 1 | name |
| 13472380 | CV463021 | single nucleotide variant | NM_001370298.3(FGD4):c.469G>A (p.Val157Ile) | Charcot-Marie-Tooth disease type 4 [RCV000524881]|Inborn genetic diseases [RCV002358616]|not provided [RCV004791571] | uncertain significance | 12 | 32576415 | 32576415 | Human | 2 | name |
| 13625908 | CV527137 | single nucleotide variant | NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser) | Charcot-Marie-Tooth disease type 4 [RCV000654120] | uncertain significance | 12 | 32582051 | 32582051 | Human | 1 | name |
| 13625935 | CV527141 | single nucleotide variant | NM_001370298.3(FGD4):c.848G>T (p.Ser283Ile) | Charcot-Marie-Tooth disease type 4 [RCV000654153] | uncertain significance | 12 | 32582304 | 32582304 | Human | 1 | name |
| 13816546 | CV565425 | single nucleotide variant | NM_001370298.3(FGD4):c.953G>A (p.Arg318Lys) | Charcot-Marie-Tooth disease type 4 [RCV000706433] | uncertain significance | 12 | 32582409 | 32582409 | Human | 1 | name |
| 13814838 | CV566796 | deletion | NM_001370298.3(FGD4):c.1402del (p.Gln468fs) | Charcot-Marie-Tooth disease type 4 [RCV000691156]|not provided [RCV001508327] | pathogenic|likely pathogenic | 12 | 32602315 | 32602315 | Human | 1 | name |
| 13819786 | CV567992 | single nucleotide variant | NM_001370298.3(FGD4):c.785C>G (p.Thr262Arg) | Charcot-Marie-Tooth disease type 4 [RCV000694541]|not provided [RCV004692132] | uncertain significance | 12 | 32582241 | 32582241 | Human | 1 | name |
| 13805440 | CV571775 | single nucleotide variant | NM_001370298.3(FGD4):c.854A>T (p.Asp285Val) | Charcot-Marie-Tooth disease type 4 [RCV000700075] | uncertain significance | 12 | 32582310 | 32582310 | Human | 1 | name |
| 14696574 | CV590026 | duplication | NM_001370298.3(FGD4):c.2622dup (p.Ala875fs) | Charcot-Marie-Tooth disease type 4H [RCV000782174] | pathogenic | 12 | 32640442 | 32640443 | Human | 1 | name |
| 14714660 | CV641063 | single nucleotide variant | NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys) | Charcot-Marie-Tooth disease type 4 [RCV000794500] | uncertain significance | 12 | 32576433 | 32576433 | Human | 1 | name |
| 14743823 | CV641064 | single nucleotide variant | NM_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 significance | 12 | 32581962 | 32581962 | Human | 3 | name |
| 14733368 | CV641066 | single nucleotide variant | NM_001370298.3(FGD4):c.955G>A (p.Glu319Lys) | Charcot-Marie-Tooth disease type 4 [RCV000818671] | uncertain significance | 12 | 32582411 | 32582411 | Human | 1 | name |
| 14702661 | CV641069 | deletion | NM_001370298.3(FGD4):c.1454del (p.Pro485fs) | Charcot-Marie-Tooth disease type 4 [RCV000807063] | pathogenic | 12 | 32608005 | 32608005 | Human | 1 | name |
| 15134877 | CV684322 | single nucleotide variant | NM_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 significance | 12 | 32582241 | 32582241 | Human | 4 | name |
| 26884935 | CV839842 | single nucleotide variant | NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu) | Charcot-Marie-Tooth disease type 4 [RCV001065146] | uncertain significance | 12 | 32582052 | 32582052 | Human | 1 | name |
| 26897707 | CV839843 | single nucleotide variant | NM_001370298.3(FGD4):c.708G>T (p.Gln236His) | Charcot-Marie-Tooth disease type 4 [RCV001070436] | uncertain significance | 12 | 32582164 | 32582164 | Human | 1 | name |
| 26884846 | CV839844 | single nucleotide variant | NM_001370298.3(FGD4):c.727A>G (p.Lys243Glu) | Charcot-Marie-Tooth disease type 4 [RCV001065093] | uncertain significance | 12 | 32582183 | 32582183 | Human | 1 | name |
| 26923302 | CV839845 | single nucleotide variant | NM_001370298.3(FGD4):c.790A>G (p.Ile264Val) | Charcot-Marie-Tooth disease type 4 [RCV001063709]|Inborn genetic diseases [RCV004030506] | uncertain significance | 12 | 32582246 | 32582246 | Human | 2 | name |
| 26904479 | CV839846 | single nucleotide variant | NM_001370298.3(FGD4):c.808G>A (p.Asp270Asn) | Charcot-Marie-Tooth disease type 4 [RCV001036574]|Inborn genetic diseases [RCV002372748] | uncertain significance | 12 | 32582264 | 32582264 | Human | 2 | name |
| 26907581 | CV839847 | single nucleotide variant | NM_001370298.3(FGD4):c.871A>G (p.Ser291Gly) | Charcot-Marie-Tooth disease type 4 [RCV001052284] | uncertain significance | 12 | 32582327 | 32582327 | Human | 1 | name |
| 26916135 | CV839848 | single nucleotide variant | NM_001370298.3(FGD4):c.984G>T (p.Glu328Asp) | Charcot-Marie-Tooth disease type 4 [RCV001041763] | uncertain significance | 12 | 32582440 | 32582440 | Human | 1 | name |
| 26922563 | CV839850 | deletion | NM_001370298.3(FGD4):c.1051del (p.Leu351fs) | Charcot-Marie-Tooth disease type 4 [RCV001062320] | pathogenic | 12 | 32598536 | 32598536 | Human | 1 | name |
| 34890054 | CV905360 | single nucleotide variant | NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr) | Charcot-Marie-Tooth disease [RCV001173485]|Charcot-Marie-Tooth disease type 4 [RCV001210333] | uncertain significance | 12 | 32582130 | 32582130 | Human | 2 | name |
| 38474718 | CV926602 | single nucleotide variant | NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly) | Charcot-Marie-Tooth disease type 4 [RCV001214860] | uncertain significance | 12 | 32576377 | 32576377 | Human | 1 | name |
| 38480124 | CV926603 | single nucleotide variant | NM_001370298.3(FGD4):c.610C>G (p.Leu204Val) | Charcot-Marie-Tooth disease type 4 [RCV001217405] | uncertain significance | 12 | 32582066 | 32582066 | Human | 1 | name |
| 38486107 | CV926604 | single nucleotide variant | NM_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 significance | 12 | 32582094 | 32582094 | Human | 3 | name |
| 38479403 | CV926605 | single nucleotide variant | NM_001370298.3(FGD4):c.838A>G (p.Thr280Ala) | Charcot-Marie-Tooth disease type 4 [RCV001217059] | uncertain significance | 12 | 32582294 | 32582294 | Human | 1 | name |
| 38460619 | CV936089 | single nucleotide variant | NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro) | Charcot-Marie-Tooth disease type 4 [RCV001211862]|Inborn genetic diseases [RCV002365952] | uncertain significance | 12 | 32576418 | 32576418 | Human | 2 | name |
| 38486547 | CV936090 | single nucleotide variant | NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile) | Charcot-Marie-Tooth disease type 4 [RCV001208940] | uncertain significance | 12 | 32582049 | 32582049 | Human | 1 | name |
| 38482459 | CV936092 | single nucleotide variant | NM_001370298.3(FGD4):c.958A>G (p.Asn320Asp) | Charcot-Marie-Tooth disease type 4 [RCV001207267] | uncertain significance | 12 | 32582414 | 32582414 | Human | 1 | name |
| 38496842 | CV947987 | single nucleotide variant | NM_001370298.3(FGD4):c.733G>A (p.Ala245Thr) | Charcot-Marie-Tooth disease type 4 [RCV001226665] | uncertain significance | 12 | 32582189 | 32582189 | Human | 1 | name |
| 38469864 | CV956856 | single nucleotide variant | NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser) | Charcot-Marie-Tooth disease type 4 [RCV001248306] | uncertain significance | 12 | 32582139 | 32582139 | Human | 1 | name |
| 126762475 | CV995171 | single nucleotide variant | NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr) | Charcot-Marie-Tooth disease type 4 [RCV001309895] | uncertain significance | 12 | 32582172 | 32582172 | Human | 1 | name |
| 126742041 | CV1010402 | single nucleotide variant | NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr) | Charcot-Marie-Tooth disease type 4 [RCV001314607] | uncertain significance | 12 | 32598552 | 32598552 | Human | 1 | name |
| 126733985 | CV1010403 | single nucleotide variant | NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile) | Charcot-Marie-Tooth disease type 4 [RCV001313489] | uncertain significance | 12 | 32602303 | 32602303 | Human | 1 | name |
| 126753286 | CV1010404 | single nucleotide variant | NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val) | Charcot-Marie-Tooth disease type 4 [RCV001316453] | uncertain significance | 12 | 32608087 | 32608087 | Human | 1 | name |
| 126757912 | CV1010405 | single nucleotide variant | NM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe) | Charcot-Marie-Tooth disease type 4 [RCV001317628] | uncertain significance | 12 | 32610794 | 32610794 | Human | 1 | name |
| 126753731 | CV1010406 | single nucleotide variant | NM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg) | Charcot-Marie-Tooth disease type 4 [RCV001327346] | uncertain significance | 12 | 32633604 | 32633604 | Human | 1 | name |
| 126728412 | CV1030907 | single nucleotide variant | NM_001370298.3(FGD4):c.1156A>G (p.Met386Val) | Charcot-Marie-Tooth disease type 4 [RCV001348916] | uncertain significance | 12 | 32601332 | 32601332 | Human | 1 | name |
| 126768994 | CV1030908 | single nucleotide variant | NM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser) | Charcot-Marie-Tooth disease type 4 [RCV001343675]|not specified [RCV005408849] | uncertain significance | 12 | 32625046 | 32625046 | Human | 1 | name |
| 126771132 | CV1030909 | single nucleotide variant | NM_001370298.3(FGD4):c.2404G>A (p.Val802Met) | Charcot-Marie-Tooth disease type 4 [RCV001344866]|Inborn genetic diseases [RCV002419020] | uncertain significance | 12 | 32638745 | 32638745 | Human | 2 | name |
| 126774482 | CV1030910 | single nucleotide variant | NM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter) | Charcot-Marie-Tooth disease type 4 [RCV001347277] | uncertain significance | 12 | 32640525 | 32640525 | Human | 1 | name |
| 126913195 | CV1038151 | single nucleotide variant | NM_001370298.3(FGD4):c.2602T>C (p.Trp868Arg) | Inborn genetic diseases [RCV002548517]|not provided [RCV001357146] | uncertain significance | 12 | 32640423 | 32640423 | Human | 1 | name |
| 126923031 | CV1047913 | single nucleotide variant | NM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln) | Charcot-Marie-Tooth disease type 4 [RCV001365378]|not provided [RCV004697122] | uncertain significance | 12 | 32601411 | 32601411 | Human | 1 | name |
| 126922854 | CV1047914 | single nucleotide variant | NM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe) | Charcot-Marie-Tooth disease type 4 [RCV001365160] | uncertain significance | 12 | 32602189 | 32602189 | Human | 1 | name |
| 126908386 | CV1047915 | single nucleotide variant | NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu) | Charcot-Marie-Tooth disease type 4 [RCV001367802] | uncertain significance | 12 | 32625730 | 32625730 | Human | 1 | name |
| 126923119 | CV1047916 | single nucleotide variant | NM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr) | Charcot-Marie-Tooth disease type 4 [RCV001365479]|Inborn genetic diseases [RCV004036943] | uncertain significance | 12 | 32640339 | 32640339 | Human | 2 | name |
| 126917961 | CV1047917 | single nucleotide variant | NM_001370298.3(FGD4):c.2680C>T (p.His894Tyr) | Charcot-Marie-Tooth disease type 4 [RCV001372378] | uncertain significance | 12 | 32640501 | 32640501 | Human | 1 | name |
| 127252921 | CV1062602 | single nucleotide variant | NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter) | Charcot-Marie-Tooth disease type 4 [RCV001385811] | pathogenic | 12 | 32625686 | 32625686 | Human | 1 | name |
| 127288178 | CV1152490 | single nucleotide variant | NM_001370298.3(FGD4):c.1769A>C (p.Tyr590Ser) | not provided [RCV001508328] | uncertain significance | 12 | 32619717 | 32619717 | Human | | name |
| 127298865 | CV1156980 | single nucleotide variant | NM_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 benign | 12 | 32598560 | 32598560 | Human | 3 | name |
| 150338630 | CV1174321 | single nucleotide variant | NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln) | Charcot-Marie-Tooth disease type 4H [RCV001542681]|Inborn genetic diseases [RCV003246982] | likely pathogenic|uncertain significance | 12 | 32625766 | 32625766 | Human | 2 | name |
| 151779657 | CV1341661 | single nucleotide variant | NM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser) | Charcot-Marie-Tooth disease type 4 [RCV001897118] | uncertain significance | 12 | 32640339 | 32640339 | Human | 1 | name |
| 151830153 | CV1343413 | single nucleotide variant | NM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly) | Charcot-Marie-Tooth disease type 4 [RCV001920411] | uncertain significance | 12 | 32633661 | 32633661 | Human | 1 | name |
| 151838563 | CV1344809 | single nucleotide variant | NM_001370298.3(FGD4):c.1846G>A (p.Val616Ile) | Charcot-Marie-Tooth disease type 4 [RCV002015059] | uncertain significance | 12 | 32619794 | 32619794 | Human | 1 | name |
| 151758574 | CV1349856 | single nucleotide variant | NM_001370298.3(FGD4):c.1387G>A (p.Val463Met) | Charcot-Marie-Tooth disease type 4 [RCV001986999] | uncertain significance | 12 | 32602300 | 32602300 | Human | 1 | name |
| 151831121 | CV1354275 | single nucleotide variant | NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln) | Charcot-Marie-Tooth disease type 4 [RCV001880318]|Charcot-Marie-Tooth disease type 4H [RCV003146263] | uncertain significance | 12 | 32611146 | 32611146 | Human | 2 | name |
| 151738499 | CV1358641 | single nucleotide variant | NM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser) | Charcot-Marie-Tooth disease type 4 [RCV001967900] | uncertain significance | 12 | 32602285 | 32602285 | Human | 1 | name |
| 151811755 | CV1359510 | single nucleotide variant | NM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg) | Charcot-Marie-Tooth disease type 4 [RCV001991898]|Inborn genetic diseases [RCV002423214] | uncertain significance | 12 | 32640465 | 32640465 | Human | 2 | name |
| 151814753 | CV1360610 | single nucleotide variant | NM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu) | Charcot-Marie-Tooth disease type 4 [RCV001878627] | uncertain significance | 12 | 32598583 | 32598583 | Human | 1 | name |
| 151802295 | CV1368970 | single nucleotide variant | NM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro) | Charcot-Marie-Tooth disease type 4 [RCV002028210] | uncertain significance | 12 | 32619746 | 32619746 | Human | 1 | name |
| 151832043 | CV1377983 | single nucleotide variant | NM_001370298.3(FGD4):c.1348G>A (p.Val450Ile) | Charcot-Marie-Tooth disease type 4 [RCV002014400]|Inborn genetic diseases [RCV002443049] | uncertain significance | 12 | 32602261 | 32602261 | Human | 2 | name |
| 151881920 | CV1395944 | single nucleotide variant | NM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys) | Charcot-Marie-Tooth disease type 4 [RCV002037025] | uncertain significance | 12 | 32624985 | 32624985 | Human | 1 | name |
| 151799375 | CV1396482 | single nucleotide variant | NM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro) | Charcot-Marie-Tooth disease type 4 [RCV001917569] | uncertain significance | 12 | 32608015 | 32608015 | Human | 1 | name |
| 151789556 | CV1399667 | single nucleotide variant | NM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu) | Charcot-Marie-Tooth disease type 4 [RCV001916681] | uncertain significance | 12 | 32640359 | 32640359 | Human | 1 | name |
| 151772562 | CV1400957 | single nucleotide variant | NM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp) | Charcot-Marie-Tooth disease type 4 [RCV002045387] | uncertain significance | 12 | 32640487 | 32640487 | Human | 1 | name |
| 151859260 | CV1403497 | single nucleotide variant | NM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser) | Charcot-Marie-Tooth disease type 4 [RCV001979912] | uncertain significance | 12 | 32602199 | 32602199 | Human | 1 | name |
| 151800825 | CV1404041 | single nucleotide variant | NM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser) | Charcot-Marie-Tooth disease type 4 [RCV001973892] | uncertain significance | 12 | 32640465 | 32640465 | Human | 1 | name |
| 151884053 | CV1404940 | single nucleotide variant | NM_001370298.3(FGD4):c.2645G>T (p.Gly882Val) | Charcot-Marie-Tooth disease type 4 [RCV001962253]|Inborn genetic diseases [RCV002425140] | uncertain significance | 12 | 32640466 | 32640466 | Human | 2 | name |
| 151769517 | CV1410661 | single nucleotide variant | NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val) | Charcot-Marie-Tooth disease type 4 [RCV001971039] | uncertain significance | 12 | 32640487 | 32640487 | Human | 1 | name |
| 151722591 | CV1414032 | single nucleotide variant | NM_001370298.3(FGD4):c.2263A>G (p.Ile755Val) | Charcot-Marie-Tooth disease type 4 [RCV002020396]|Inborn genetic diseases [RCV002657729] | uncertain significance | 12 | 32633639 | 32633639 | Human | 2 | name |
| 151755491 | CV1417756 | single nucleotide variant | NM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln) | Charcot-Marie-Tooth disease type 4 [RCV001894756] | uncertain significance | 12 | 32608095 | 32608095 | Human | 1 | name |
| 151775893 | CV1427100 | single nucleotide variant | NM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu) | Charcot-Marie-Tooth disease type 4 [RCV002009283]|Inborn genetic diseases [RCV004046196] | uncertain significance | 12 | 32640344 | 32640344 | Human | 2 | name |
| 151885108 | CV1429127 | single nucleotide variant | NM_001370298.3(FGD4):c.1202A>T (p.His401Leu) | Charcot-Marie-Tooth disease type 4 [RCV002000412] | uncertain significance | 12 | 32601378 | 32601378 | Human | 1 | name |
| 151749123 | CV1430287 | single nucleotide variant | NM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr) | Charcot-Marie-Tooth disease type 4 [RCV002006674] | uncertain significance | 12 | 32602247 | 32602247 | Human | 1 | name |
| 151827466 | CV1437818 | single nucleotide variant | NM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln) | Charcot-Marie-Tooth disease type 4 [RCV001920163] | uncertain significance | 12 | 32601312 | 32601312 | Human | 1 | name |
| 151770269 | CV1454565 | single nucleotide variant | NM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln) | Charcot-Marie-Tooth disease type 4 [RCV001950090]|not provided [RCV004999553] | uncertain significance | 12 | 32608015 | 32608015 | Human | 1 | name |
| 151738689 | CV1455098 | single nucleotide variant | NM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys) | Charcot-Marie-Tooth disease type 4 [RCV002005596] | uncertain significance | 12 | 32625778 | 32625778 | Human | 1 | name |
| 151854026 | CV1455572 | single nucleotide variant | NM_001370298.3(FGD4):c.1391T>C (p.Val464Ala) | Charcot-Marie-Tooth disease type 4 [RCV002016954] | uncertain significance | 12 | 32602304 | 32602304 | Human | 1 | name |
| 151667572 | CV1460791 | single nucleotide variant | NM_001370298.3(FGD4):c.2429T>C (p.Val810Ala) | Charcot-Marie-Tooth disease type 4 [RCV001888915] | uncertain significance | 12 | 32638770 | 32638770 | Human | 1 | name |
| 151828866 | CV1468682 | single nucleotide variant | NM_001370298.3(FGD4):c.1339A>G (p.Met447Val) | Charcot-Marie-Tooth disease type 4 [RCV002030600] | uncertain significance | 12 | 32602252 | 32602252 | Human | 1 | name |
| 151836329 | CV1471698 | single nucleotide variant | NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter) | Charcot-Marie-Tooth disease type 4 [RCV001956214] | pathogenic | 12 | 32601311 | 32601311 | Human | 1 | name |
| 151887498 | CV1472000 | single nucleotide variant | NM_001370298.3(FGD4):c.2029A>G (p.Ile677Val) | Charcot-Marie-Tooth disease type 4 [RCV002000894] | uncertain significance | 12 | 32625051 | 32625051 | Human | 1 | name |
| 151739828 | CV1476210 | single nucleotide variant | NM_001370298.3(FGD4):c.2563C>T (p.His855Tyr) | Charcot-Marie-Tooth disease type 4 [RCV001911820] | uncertain significance | 12 | 32640384 | 32640384 | Human | 1 | name |
| 151778339 | CV1477082 | single nucleotide variant | NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter) | Charcot-Marie-Tooth disease type 4 [RCV001897003] | pathogenic | 12 | 32625690 | 32625690 | Human | 1 | name |
| 151733143 | CV1477449 | single nucleotide variant | NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile) | Charcot-Marie-Tooth disease type 4 [RCV001967321] | uncertain significance | 12 | 32640447 | 32640447 | Human | 1 | name |
| 151743198 | CV1478270 | single nucleotide variant | NM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu) | Charcot-Marie-Tooth disease type 4 [RCV002006021] | uncertain significance | 12 | 32602240 | 32602240 | Human | 1 | name |
| 151748970 | CV1487340 | single nucleotide variant | NM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu) | Charcot-Marie-Tooth disease type 4 [RCV001947937]|Inborn genetic diseases [RCV002441035] | uncertain significance | 12 | 32608088 | 32608088 | Human | 2 | name |
| 151740086 | CV1490509 | single nucleotide variant | NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter) | Charcot-Marie-Tooth disease type 4 [RCV001985156]|Charcot-Marie-Tooth disease type 4H [RCV005397189] | pathogenic|likely pathogenic | 12 | 32624429 | 32624429 | Human | 2 | name |
| 151735463 | CV1494319 | single nucleotide variant | NM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn) | Charcot-Marie-Tooth disease type 4 [RCV001984655] | uncertain significance | 12 | 32624994 | 32624994 | Human | 1 | name |
| 151732731 | CV1497682 | single nucleotide variant | NM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln) | Charcot-Marie-Tooth disease type 4 [RCV001946220] | uncertain significance | 12 | 32638712 | 32638712 | Human | 1 | name |
| 151873227 | CV1499492 | single nucleotide variant | NM_001370298.3(FGD4):c.2278G>C (p.Asp760His) | Charcot-Marie-Tooth disease type 4 [RCV001885540] | uncertain significance | 12 | 32633654 | 32633654 | Human | 1 | name |
| 151834372 | CV1505024 | single nucleotide variant | NM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys) | Charcot-Marie-Tooth disease type 4 [RCV001976975] | uncertain significance | 12 | 32640313 | 32640313 | Human | 1 | name |
| 151795950 | CV1505566 | single nucleotide variant | NM_001370298.3(FGD4):c.1268G>T (p.Gly423Val) | Charcot-Marie-Tooth disease type 4 [RCV002047543] | uncertain significance | 12 | 32602181 | 32602181 | Human | 1 | name |
| 151753037 | CV1508621 | single nucleotide variant | NM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg) | Charcot-Marie-Tooth disease type 4 [RCV001986489] | uncertain significance | 12 | 32611264 | 32611264 | Human | 1 | name |
| 151734843 | CV1508751 | single nucleotide variant | NM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser) | Charcot-Marie-Tooth disease type 4 [RCV002021685] | uncertain significance | 12 | 32619765 | 32619765 | Human | 1 | name |
| 8595267 | CV16050 | single nucleotide variant | NM_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 pathogenicity | 12 | 32598566 | 32598566 | Human | 2 | name |
| 8595268 | CV16053 | single nucleotide variant | NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter) | Charcot-Marie-Tooth disease type 4H [RCV000001069] | pathogenic|conflicting interpretations of pathogenicity | 12 | 32625774 | 32625774 | Human | 1 | name |
| 8595269 | CV16054 | single nucleotide variant | NM_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 significance | 12 | 32602217 | 32602217 | Human | 2 | name |
| 8595270 | CV16055 | single nucleotide variant | NM_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 pathogenicity | 12 | 32601410 | 32601410 | Human | 2 | name |
| 155641856 | CV1707159 | single nucleotide variant | NM_001370298.3(FGD4):c.1715G>A (p.Arg572Gln) | Charcot-Marie-Tooth disease type 4 [RCV005058238]|not provided [RCV002288089] | uncertain significance | 12 | 32611249 | 32611249 | Human | 1 | name |
| 155749042 | CV1779104 | single nucleotide variant | NM_001370298.3(FGD4):c.1390G>T (p.Val464Phe) | Charcot-Marie-Tooth disease type 4 [RCV002304194] | uncertain significance | 12 | 32602303 | 32602303 | Human | 1 | name |
| 155687501 | CV1816004 | single nucleotide variant | NM_001370298.3(FGD4):c.1158G>A (p.Met386Ile) | Charcot-Marie-Tooth disease type 4 [RCV003120958]|Inborn genetic diseases [RCV002391503]|not provided [RCV005001309] | uncertain significance | 12 | 32601334 | 32601334 | Human | 2 | name |
| 155708739 | CV1832552 | single nucleotide variant | NM_001370298.3(FGD4):c.1795G>A (p.Gly599Ser) | Inborn genetic diseases [RCV002396490] | uncertain significance | 12 | 32619743 | 32619743 | Human | 1 | name |
| 155693507 | CV1837187 | single nucleotide variant | NM_001370298.3(FGD4):c.1943A>G (p.Glu648Gly) | Inborn genetic diseases [RCV002392567] | uncertain significance | 12 | 32624442 | 32624442 | Human | 1 | name |
| 155682472 | CV1839798 | single nucleotide variant | NM_001370298.3(FGD4):c.2386T>C (p.Trp796Arg) | Inborn genetic diseases [RCV002423574] | uncertain significance | 12 | 32638727 | 32638727 | Human | 1 | name |
| 155677884 | CV1840092 | single nucleotide variant | NM_001370298.3(FGD4):c.2477T>G (p.Ile826Ser) | Inborn genetic diseases [RCV002422044] | uncertain significance | 12 | 32640298 | 32640298 | Human | 1 | name |
| 155670378 | CV1843503 | single nucleotide variant | NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu) | Charcot-Marie-Tooth disease type 4 [RCV003098574]|Inborn genetic diseases [RCV002419887]|not provided [RCV002473382] | uncertain significance | 12 | 32638791 | 32638791 | Human | 2 | name |
| 155740027 | CV1846160 | single nucleotide variant | NM_001370298.3(FGD4):c.2339A>G (p.Asn780Ser) | Inborn genetic diseases [RCV002410829] | uncertain significance | 12 | 32638680 | 32638680 | Human | 1 | name |
| 10041325 | CV186162 | single nucleotide variant | NM_001370298.3(FGD4):c.1078A>C (p.Asn360His) | Charcot-Marie-Tooth disease type 4 [RCV000168307]|Inborn genetic diseases [RCV005338090] | uncertain significance | 12 | 32598563 | 32598563 | Human | 2 | name |
| 10041291 | CV186163 | single nucleotide variant | NM_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 [RCV000219132] | likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance | 12 | 32619725 | 32619725 | Human | 4 | name , trait , alternate_id |
| 10041358 | CV186164 | single nucleotide variant | NM_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 [RCV000357650] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32625729 | 32625729 | Human | 4 | name , trait , alternate_id |
| 10041348 | CV186165 | single nucleotide variant | NM_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 significance | 12 | 32640381 | 32640381 | Human | 3 | name , trait , alternate_id |
| 155948478 | CV1869165 | single nucleotide variant | NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp) | Charcot-Marie-Tooth disease type 4 [RCV003074001] | uncertain significance | 12 | 32611184 | 32611184 | Human | 1 | name |
| 156396625 | CV1870869 | single nucleotide variant | NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr) | Charcot-Marie-Tooth disease type 4 [RCV003068671] | uncertain significance | 12 | 32601305 | 32601305 | Human | 1 | name |
| 156206289 | CV1874373 | single nucleotide variant | NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr) | Charcot-Marie-Tooth disease type 4 [RCV003058352] | uncertain significance | 12 | 32598564 | 32598564 | Human | 1 | name |
| 156023570 | CV1892481 | single nucleotide variant | NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln) | Charcot-Marie-Tooth disease type 4 [RCV003077748]|Inborn genetic diseases [RCV004978555] | uncertain significance | 12 | 32601396 | 32601396 | Human | 2 | name |
| 155955994 | CV1907274 | single nucleotide variant | NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter) | Charcot-Marie-Tooth disease type 4 [RCV003095588] | pathogenic | 12 | 32619817 | 32619817 | Human | 1 | name |
| 156264808 | CV1910177 | single nucleotide variant | NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly) | Charcot-Marie-Tooth disease type 4 [RCV002627888] | uncertain significance | 12 | 32608045 | 32608045 | Human | 1 | name |
| 156053969 | CV1935036 | single nucleotide variant | NM_001370298.3(FGD4):c.1839G>A (p.Met613Ile) | not specified [RCV002510322] | uncertain significance | 12 | 32619787 | 32619787 | Human | | name |
| 156436995 | CV1936819 | single nucleotide variant | NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu) | Charcot-Marie-Tooth disease type 4 [RCV003106522] | uncertain significance | 12 | 32638764 | 32638764 | Human | 1 | name |
| 156435768 | CV1937130 | single nucleotide variant | NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr) | Charcot-Marie-Tooth disease type 4 [RCV003104999] | uncertain significance | 12 | 32602283 | 32602283 | Human | 1 | name |
| 156441659 | CV1940989 | single nucleotide variant | NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp) | Charcot-Marie-Tooth disease type 4 [RCV003111987] | uncertain significance | 12 | 32602257 | 32602257 | Human | 1 | name |
| 156325835 | CV1972691 | single nucleotide variant | NM_001370298.3(FGD4):c.2162C>T (p.Ala721Val) | Charcot-Marie-Tooth disease type 4 [RCV002600520] | uncertain significance | 12 | 32625769 | 32625769 | Human | 1 | name |
| 156085640 | CV1987592 | single nucleotide variant | NM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro) | Charcot-Marie-Tooth disease type 4 [RCV002621687] | uncertain significance | 12 | 32601317 | 32601317 | Human | 1 | name |
| 155941609 | CV2022410 | single nucleotide variant | NM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro) | Charcot-Marie-Tooth disease type 4 [RCV002730153] | uncertain significance | 12 | 32640486 | 32640486 | Human | 1 | name |
| 156129494 | CV2027782 | single nucleotide variant | NM_001370298.3(FGD4):c.2330T>C (p.Val777Ala) | Charcot-Marie-Tooth disease type 4 [RCV002740510] | uncertain significance | 12 | 32638671 | 32638671 | Human | 1 | name |
| 156145254 | CV2037284 | single nucleotide variant | NM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln) | Charcot-Marie-Tooth disease type 4 [RCV002786663] | uncertain significance | 12 | 32619762 | 32619762 | Human | 1 | name |
| 155907813 | CV2052413 | single nucleotide variant | NM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr) | Charcot-Marie-Tooth disease type 4 [RCV002837486] | uncertain significance | 12 | 32602246 | 32602246 | Human | 1 | name |
| 155945543 | CV2062177 | single nucleotide variant | NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter) | Charcot-Marie-Tooth disease type 4 [RCV002815959] | pathogenic | 12 | 32640417 | 32640417 | Human | 1 | name |
| 156077779 | CV2083550 | single nucleotide variant | NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile) | Charcot-Marie-Tooth disease type 4 [RCV002847284] | uncertain significance | 12 | 32598536 | 32598536 | Human | 1 | name |
| 156047039 | CV2091259 | single nucleotide variant | NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala) | Charcot-Marie-Tooth disease type 4 [RCV002886029] | uncertain significance | 12 | 32624423 | 32624423 | Human | 1 | name |
| 156099941 | CV2152998 | single nucleotide variant | NM_001370298.3(FGD4):c.2259A>C (p.Gln753His) | Charcot-Marie-Tooth disease type 4 [RCV003021012] | uncertain significance | 12 | 32633635 | 32633635 | Human | 1 | name |
| 156323891 | CV2173729 | single nucleotide variant | NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu) | Charcot-Marie-Tooth disease type 4 [RCV003046800] | uncertain significance | 12 | 32608024 | 32608024 | Human | 1 | name |
| 11350631 | CV237130 | single nucleotide variant | NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly) | Charcot-Marie-Tooth disease type 4 [RCV000654083]|Inborn genetic diseases [RCV002399802]|not provided [RCV000224105] | uncertain significance | 12 | 32624995 | 32624995 | Human | 2 | name |
| 156064886 | CV2376035 | single nucleotide variant | NM_001370298.3(FGD4):c.2047A>C (p.Thr683Pro) | Inborn genetic diseases [RCV002693639] | uncertain significance | 12 | 32625654 | 32625654 | Human | 1 | name |
| 11523481 | CV244822 | single nucleotide variant | NM_001370298.3(FGD4):c.1689A>C (p.Glu563Asp) | not provided [RCV000236012] | uncertain significance | 12 | 32611223 | 32611223 | Human | | name |
| 11523075 | CV244823 | single nucleotide variant | NM_001370298.3(FGD4):c.1759A>G (p.Met587Val) | Charcot-Marie-Tooth disease type 4 [RCV000559732]|Inborn genetic diseases [RCV002379044]|not specified [RCV000235299] | uncertain significance | 12 | 32619707 | 32619707 | Human | 2 | name |
| 11523832 | CV244824 | single nucleotide variant | NM_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 significance | 12 | 32625729 | 32625729 | Human | 3 | name |
| 11523184 | CV244825 | single nucleotide variant | NM_001370298.3(FGD4):c.2123C>A (p.Pro708His) | Charcot-Marie-Tooth disease type 4 [RCV000236221]|Inborn genetic diseases [RCV002401918]|not provided [RCV000235513] | uncertain significance | 12 | 32625730 | 32625730 | Human | 2 | name |
| 11632697 | CV264610 | single nucleotide variant | NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter) | Charcot-Marie-Tooth disease type 4H [RCV003988839]|not provided [RCV000277726] | pathogenic | 12 | 32611274 | 32611274 | Human | 1 | name |
| 401723224 | CV2674748 | single nucleotide variant | NM_001370298.3(FGD4):c.1588G>A (p.Ala530Thr) | Inborn genetic diseases [RCV003245099] | uncertain significance | 12 | 32610820 | 32610820 | Human | 1 | name |
| 401879872 | CV2769791 | single nucleotide variant | NM_001370298.3(FGD4):c.1118T>C (p.Leu373Pro) | Inborn genetic diseases [RCV003364432] | uncertain significance | 12 | 32601294 | 32601294 | Human | 1 | name |
| 401898452 | CV2787929 | single nucleotide variant | NM_001370298.3(FGD4):c.2030T>C (p.Ile677Thr) | Inborn genetic diseases [RCV003376631] | uncertain significance | 12 | 32625052 | 32625052 | Human | 1 | name |
| 405246422 | CV2964812 | single nucleotide variant | NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg) | Charcot-Marie-Tooth disease type 4 [RCV003745994] | uncertain significance | 12 | 32611153 | 32611153 | Human | 1 | name |
| 11601946 | CV316840 | single nucleotide variant | NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val) | Charcot-Marie-Tooth disease type 4 [RCV000654188]|Charcot-Marie-Tooth disease type 4H [RCV001094111] | uncertain significance | 12 | 32611143 | 32611143 | Human | 2 | name |
| 405267735 | CV3186899 | single nucleotide variant | NM_001370298.3(FGD4):c.1699C>T (p.Leu567Phe) | not provided [RCV003886982] | uncertain significance | 12 | 32611233 | 32611233 | Human | | name |
| 11654780 | CV324404 | single nucleotide variant | NM_001370298.3(FGD4):c.2225G>A (p.Gly742Asp) | Charcot-Marie-Tooth disease type 4H [RCV000320807] | uncertain significance | 12 | 32633601 | 32633601 | Human | 1 | name |
| 405759316 | CV3253534 | single nucleotide variant | NM_001370298.3(FGD4):c.1952A>G (p.Lys651Arg) | Inborn genetic diseases [RCV004393968] | uncertain significance | 12 | 32624451 | 32624451 | Human | 1 | name |
| 405759323 | CV3253535 | single nucleotide variant | NM_001370298.3(FGD4):c.2194G>A (p.Asp732Asn) | Inborn genetic diseases [RCV004393969] | uncertain significance | 12 | 32633570 | 32633570 | Human | 1 | name |
| 405759327 | CV3253536 | single nucleotide variant | NM_001370298.3(FGD4):c.2458G>A (p.Val820Ile) | Inborn genetic diseases [RCV004393970] | uncertain significance | 12 | 32640279 | 32640279 | Human | 1 | name |
| 407501299 | CV3439085 | single nucleotide variant | NM_001370298.3(FGD4):c.2564A>G (p.His855Arg) | Inborn genetic diseases [RCV004623227] | uncertain significance | 12 | 32640385 | 32640385 | Human | 1 | name |
| 407501301 | CV3439086 | single nucleotide variant | NM_001370298.3(FGD4):c.1102G>T (p.Val368Leu) | Inborn genetic diseases [RCV004623228] | uncertain significance | 12 | 32601278 | 32601278 | Human | 1 | name |
| 596927426 | CV3532588 | single nucleotide variant | NM_001370298.3(FGD4):c.1802A>G (p.Lys601Arg) | not provided [RCV004778686] | uncertain significance | 12 | 32619750 | 32619750 | Human | | name |
| 597653528 | CV3672593 | single nucleotide variant | NM_001370298.3(FGD4):c.1042G>A (p.Ala348Thr) | Inborn genetic diseases [RCV004975055] | uncertain significance | 12 | 32598527 | 32598527 | Human | 1 | name |
| 597653535 | CV3672594 | single nucleotide variant | NM_001370298.3(FGD4):c.2690C>T (p.Pro897Leu) | Inborn genetic diseases [RCV004975056] | uncertain significance | 12 | 32640511 | 32640511 | Human | 1 | name |
| 597653545 | CV3672596 | single nucleotide variant | NM_001370298.3(FGD4):c.2421C>A (p.Asp807Glu) | Inborn genetic diseases [RCV004975058] | uncertain significance | 12 | 32638762 | 32638762 | Human | 1 | name |
| 597975689 | CV3799295 | single nucleotide variant | NM_001370298.3(FGD4):c.1810G>T (p.Val604Phe) | Charcot-Marie-Tooth disease type 4 [RCV005144691] | uncertain significance | 12 | 32619758 | 32619758 | Human | 1 | name |
| 597856212 | CV3822108 | single nucleotide variant | NM_001370298.3(FGD4):c.1602G>C (p.Met534Ile) | Charcot-Marie-Tooth disease type 4 [RCV005174406] | uncertain significance | 12 | 32610834 | 32610834 | Human | 1 | name |
| 597944463 | CV3847887 | single nucleotide variant | NM_001370298.3(FGD4):c.1462C>T (p.Arg488Trp) | Charcot-Marie-Tooth disease type 4 [RCV005188616] | uncertain significance | 12 | 32608014 | 32608014 | Human | 1 | name |
| 597949081 | CV3848820 | single nucleotide variant | NM_001370298.3(FGD4):c.2452C>T (p.Gln818Ter) | Charcot-Marie-Tooth disease type 4 [RCV005189757] | pathogenic | 12 | 32638793 | 32638793 | Human | 1 | name |
| 597919478 | CV3861700 | single nucleotide variant | NM_001370298.3(FGD4):c.1993G>T (p.Glu665Ter) | Charcot-Marie-Tooth disease type 4 [RCV005204856] | pathogenic | 12 | 32625015 | 32625015 | Human | 1 | name |
| 598226560 | CV3894396 | single nucleotide variant | NM_001370298.3(FGD4):c.1134C>G (p.Asn378Lys) | not provided [RCV005257639] | uncertain significance | 12 | 32601310 | 32601310 | Human | | name |
| 598241197 | CV3959389 | single nucleotide variant | NM_001370298.3(FGD4):c.2281A>C (p.Ser761Arg) | Inborn genetic diseases [RCV005344305] | uncertain significance | 12 | 32633657 | 32633657 | Human | 1 | name |
| 598271994 | CV3959390 | single nucleotide variant | NM_001370298.3(FGD4):c.2091T>A (p.Asn697Lys) | Inborn genetic diseases [RCV005327865] | uncertain significance | 12 | 32625698 | 32625698 | Human | 1 | name |
| 598241202 | CV3959391 | single nucleotide variant | NM_001370298.3(FGD4):c.1390G>C (p.Val464Leu) | Inborn genetic diseases [RCV005344306] | uncertain significance | 12 | 32602303 | 32602303 | Human | 1 | name |
| 12885645 | CV399125 | single nucleotide variant | NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter) | Charcot-Marie-Tooth disease type 4 [RCV000465770] | pathogenic | 12 | 32625747 | 32625747 | Human | 1 | name |
| 12880673 | CV399670 | single nucleotide variant | NM_001370298.3(FGD4):c.1657A>G (p.Ile553Val) | Charcot-Marie-Tooth disease type 4 [RCV000456452] | uncertain significance | 12 | 32611191 | 32611191 | Human | 1 | name |
| 12895603 | CV408631 | single nucleotide variant | NM_001370298.3(FGD4):c.2587G>T (p.Glu863Ter) | not provided [RCV000487096] | likely pathogenic | 12 | 32640408 | 32640408 | Human | | name |
| 12912948 | CV421918 | single nucleotide variant | NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys) | Charcot-Marie-Tooth disease type 4 [RCV000654160]|not provided [RCV000493204] | uncertain significance | 12 | 32602279 | 32602279 | Human | 1 | name |
| 12912751 | CV421919 | single nucleotide variant | NM_001370298.3(FGD4):c.1614G>C (p.Lys538Asn) | not provided [RCV000492971] | uncertain significance | 12 | 32611148 | 32611148 | Human | | name |
| 13435713 | CV433567 | single nucleotide variant | NM_001370298.3(FGD4):c.1509G>T (p.Leu503Phe) | not specified [RCV000505863] | uncertain significance | 12 | 32608061 | 32608061 | Human | | name |
| 13481397 | CV441536 | single nucleotide variant | NM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg) | Charcot-Marie-Tooth disease type 4 [RCV001851437]|not specified [RCV000517559] | uncertain significance | 12 | 32607961 | 32607961 | Human | 1 | name |
| 13478486 | CV462125 | single nucleotide variant | NM_001370298.3(FGD4):c.1151C>T (p.Ala384Val) | Charcot-Marie-Tooth disease type 4 [RCV000550078] | uncertain significance | 12 | 32601327 | 32601327 | Human | 1 | name |
| 13483778 | CV462129 | single nucleotide variant | NM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln) | Charcot-Marie-Tooth disease type 4 [RCV000530020] | uncertain significance | 12 | 32608024 | 32608024 | Human | 1 | name |
| 13468884 | CV463022 | single nucleotide variant | NM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala) | Charcot-Marie-Tooth disease type 4 [RCV000544781] | uncertain significance | 12 | 32610778 | 32610778 | Human | 1 | name |
| 8604053 | CV47002 | single nucleotide variant | NM_001370298.3(FGD4):c.1736G>A (p.Arg579His) | Charcot-Marie-Tooth disease [RCV000789100]|Charcot-Marie-Tooth disease type 4H [RCV000031999] | pathogenic|uncertain significance|not provided | 12 | 32611270 | 32611270 | Human | 2 | name |
| 8604054 | CV47003 | single nucleotide variant | NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile) | Charcot-Marie-Tooth disease type 4H [RCV000032000] | pathogenic|not provided | 12 | 32625716 | 32625716 | Human | 1 | name |
| 8604055 | CV47004 | single nucleotide variant | NM_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 significance | 12 | 32602217 | 32602217 | Human | 3 | name |
| 13625959 | CV527091 | single nucleotide variant | NM_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 provided | 12 | 32610818 | 32610818 | Human | 3 | name |
| 13625937 | CV527098 | single nucleotide variant | NM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr) | Charcot-Marie-Tooth disease type 4 [RCV000654155] | uncertain significance | 12 | 32611203 | 32611203 | Human | 1 | name |
| 13625869 | CV527099 | single nucleotide variant | NM_001370298.3(FGD4):c.2288A>T (p.Glu763Val) | Charcot-Marie-Tooth disease type 4 [RCV000654071] | uncertain significance | 12 | 32633664 | 32633664 | Human | 1 | name |
| 13625918 | CV527105 | single nucleotide variant | NM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn) | Charcot-Marie-Tooth disease type 4 [RCV000654130] | uncertain significance | 12 | 32640431 | 32640431 | Human | 1 | name |
| 13626026 | CV527348 | single nucleotide variant | NM_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 significance | 12 | 32598531 | 32598531 | Human | 3 | name |
| 13625872 | CV527608 | single nucleotide variant | NM_001370298.3(FGD4):c.1738T>C (p.Tyr580His) | Charcot-Marie-Tooth disease type 4 [RCV000654074] | uncertain significance | 12 | 32611272 | 32611272 | Human | 1 | name |
| 13625904 | CV527609 | single nucleotide variant | NM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys) | Charcot-Marie-Tooth disease type 4 [RCV000654116] | uncertain significance | 12 | 32638681 | 32638681 | Human | 1 | name |
| 13813727 | CV565426 | single nucleotide variant | NM_001370298.3(FGD4):c.1444A>G (p.Met482Val) | Charcot-Marie-Tooth disease type 4 [RCV000704583] | uncertain significance | 12 | 32607996 | 32607996 | Human | 1 | name |
| 13821356 | CV566795 | single nucleotide variant | NM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly) | Charcot-Marie-Tooth disease type 4 [RCV000695773] | uncertain significance | 12 | 32582460 | 32582460 | Human | 1 | name |
| 13810449 | CV566799 | single nucleotide variant | NM_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 significance | 12 | 32608054 | 32608054 | Human | 3 | name |
| 13813025 | CV567995 | single nucleotide variant | NM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser) | Charcot-Marie-Tooth disease type 4 [RCV000704083] | uncertain significance | 12 | 32638743 | 32638743 | Human | 1 | name |
| 13819068 | CV571785 | single nucleotide variant | NM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly) | Charcot-Marie-Tooth disease type 4 [RCV000694112]|Inborn genetic diseases [RCV002422514] | uncertain significance | 12 | 32640333 | 32640333 | Human | 2 | name |
| 13805718 | CV571792 | single nucleotide variant | NM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu) | Charcot-Marie-Tooth disease type 4 [RCV000700228]|Inborn genetic diseases [RCV002533586] | uncertain significance | 12 | 32640429 | 32640429 | Human | 2 | name |
| 13809452 | CV577258 | single nucleotide variant | NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser) | Charcot-Marie-Tooth disease type 4 [RCV001315735]|Inborn genetic diseases [RCV004972911]|not provided [RCV000711633] | uncertain significance | 12 | 32608060 | 32608060 | Human | 2 | name |
| 13827521 | CV578500 | single nucleotide variant | NM_001370298.3(FGD4):c.1367G>A (p.Arg456His) | Charcot-Marie-Tooth disease type 4H [RCV000714587] | uncertain significance | 12 | 32602280 | 32602280 | Human | 1 | name |
| 14396753 | CV612944 | single nucleotide variant | NM_001370298.3(FGD4):c.2132C>T (p.Ala711Val) | Inborn genetic diseases [RCV002397533]|not provided [RCV000761820] | uncertain significance | 12 | 32625739 | 32625739 | Human | 1 | name |
| 14699641 | CV625277 | single nucleotide variant | NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile) | Charcot-Marie-Tooth disease [RCV000789101]|Charcot-Marie-Tooth disease type 4H [RCV003447169] | uncertain significance | 12 | 32625716 | 32625716 | Human | 2 | name |
| 14699647 | CV625278 | single nucleotide variant | NM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter) | Charcot-Marie-Tooth disease [RCV000789111]|Charcot-Marie-Tooth disease type 4H [RCV003447175] | uncertain significance | 12 | 32633559 | 32633559 | Human | 2 | name |
| 14740943 | CV641067 | single nucleotide variant | NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile) | Charcot-Marie-Tooth disease type 4 [RCV000822034]|not provided [RCV000991984] | uncertain significance | 12 | 32582464 | 32582464 | Human | 1 | name |
| 14717515 | CV641068 | single nucleotide variant | NM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln) | Charcot-Marie-Tooth disease type 4 [RCV000795492] | uncertain significance | 12 | 32598567 | 32598567 | Human | 1 | name |
| 14714393 | CV641070 | single nucleotide variant | NM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys) | Charcot-Marie-Tooth disease type 4 [RCV000794408] | uncertain significance | 12 | 32611137 | 32611137 | Human | 1 | name |
| 14740025 | CV641071 | single nucleotide variant | NM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr) | Charcot-Marie-Tooth disease type 4 [RCV000805183] | uncertain significance | 12 | 32625057 | 32625057 | Human | 1 | name |
| 14737621 | CV641072 | single nucleotide variant | NM_001370298.3(FGD4):c.2103G>A (p.Met701Ile) | Charcot-Marie-Tooth disease type 4 [RCV000820538] | uncertain significance | 12 | 32625710 | 32625710 | Human | 1 | name |
| 14727579 | CV641073 | single nucleotide variant | NM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser) | Charcot-Marie-Tooth disease type 4 [RCV000799703] | uncertain significance | 12 | 32625729 | 32625729 | Human | 1 | name |
| 14723015 | CV641074 | single nucleotide variant | NM_001370298.3(FGD4):c.2345T>C (p.Val782Ala) | Charcot-Marie-Tooth disease type 4 [RCV000814167] | uncertain significance | 12 | 32638686 | 32638686 | Human | 1 | name |
| 14726612 | CV641075 | single nucleotide variant | NM_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 significance | 12 | 32640327 | 32640327 | Human | 4 | name |
| 14712830 | CV641076 | single nucleotide variant | NM_001370298.3(FGD4):c.2590C>G (p.Leu864Val) | Charcot-Marie-Tooth disease type 4 [RCV000793932] | uncertain significance | 12 | 32640411 | 32640411 | Human | 1 | name |
| 14708964 | CV641077 | single nucleotide variant | NM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln) | Charcot-Marie-Tooth disease type 4 [RCV000809210] | uncertain significance | 12 | 32640412 | 32640412 | Human | 1 | name |
| 14706716 | CV641078 | single nucleotide variant | NM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg) | Charcot-Marie-Tooth disease type 4 [RCV000792083] | uncertain significance | 12 | 32640418 | 32640418 | Human | 1 | name |
| 26906768 | CV839849 | single nucleotide variant | NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter) | Charcot-Marie-Tooth disease type 4 [RCV001037627] | pathogenic | 12 | 32598509 | 32598509 | Human | 1 | name |
| 26912333 | CV839851 | single nucleotide variant | NM_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 significance | 12 | 32601318 | 32601318 | Human | 2 | name |
| 26913399 | CV839852 | single nucleotide variant | NM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn) | Charcot-Marie-Tooth disease type 4 [RCV001040010] | uncertain significance | 12 | 32608043 | 32608043 | Human | 1 | name |
| 26905561 | CV839853 | single nucleotide variant | NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser) | Charcot-Marie-Tooth disease type 4 [RCV001051343] | uncertain significance | 12 | 32625052 | 32625052 | Human | 1 | name |
| 26911267 | CV839854 | single nucleotide variant | NM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg) | Charcot-Marie-Tooth disease type 4 [RCV001052963] | uncertain significance | 12 | 32625724 | 32625724 | Human | 1 | name |
| 26915210 | CV839855 | single nucleotide variant | NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp) | Charcot-Marie-Tooth disease type 4 [RCV001055538]|Inborn genetic diseases [RCV004031762]|not provided [RCV001289433] | uncertain significance | 12 | 32633665 | 32633665 | Human | 2 | name |
| 26918130 | CV839857 | single nucleotide variant | NM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu) | Charcot-Marie-Tooth disease type 4 [RCV001057572] | uncertain significance | 12 | 32640375 | 32640375 | Human | 1 | name |
| 26886541 | CV839858 | single nucleotide variant | NM_001370298.3(FGD4):c.2560G>T (p.Val854Leu) | Charcot-Marie-Tooth disease type 4 [RCV001066133]|not provided [RCV001760041] | uncertain significance | 12 | 32640381 | 32640381 | Human | 1 | name |
| 28891455 | CV859962 | single nucleotide variant | NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln) | Charcot-Marie-Tooth disease type 4 [RCV001366887]|not provided [RCV001092392] | pathogenic|uncertain significance | 12 | 32625748 | 32625748 | Human | 1 | name |
| 28911283 | CV869679 | single nucleotide variant | NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile) | Charcot-Marie-Tooth disease type 4H [RCV001110293] | uncertain significance | 12 | 32602218 | 32602218 | Human | 1 | name |
| 34890052 | CV905363 | single nucleotide variant | NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile) | Charcot-Marie-Tooth disease [RCV001173482] | uncertain significance | 12 | 32625063 | 32625063 | Human | 1 | name |
| 38483676 | CV926606 | single nucleotide variant | NM_001370298.3(FGD4):c.1454C>A (p.Pro485His) | Charcot-Marie-Tooth disease type 4 [RCV001219057] | uncertain significance | 12 | 32608006 | 32608006 | Human | 1 | name |
| 38485151 | CV926607 | single nucleotide variant | NM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp) | Charcot-Marie-Tooth disease type 4 [RCV001219747] | uncertain significance | 12 | 32611139 | 32611139 | Human | 1 | name |
| 38483022 | CV926608 | single nucleotide variant | NM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys) | Charcot-Marie-Tooth disease type 4 [RCV001218748] | uncertain significance | 12 | 32611269 | 32611269 | Human | 1 | name |
| 38490203 | CV926609 | single nucleotide variant | NM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr) | Charcot-Marie-Tooth disease type 4 [RCV001222046]|Inborn genetic diseases [RCV002402682] | uncertain significance | 12 | 32624997 | 32624997 | Human | 2 | name |
| 38494135 | CV926610 | single nucleotide variant | NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe) | Charcot-Marie-Tooth disease type 4 [RCV001224745] | uncertain significance | 12 | 32633619 | 32633619 | Human | 1 | name |
| 38470312 | CV936093 | single nucleotide variant | NM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu) | Charcot-Marie-Tooth disease type 4 [RCV001202560] | uncertain significance | 12 | 32611201 | 32611201 | Human | 1 | name |
| 38480199 | CV936094 | single nucleotide variant | NM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln) | Charcot-Marie-Tooth disease type 4 [RCV001206294] | uncertain significance | 12 | 32619788 | 32619788 | Human | 1 | name |
| 38477317 | CV947988 | single nucleotide variant | NM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu) | Charcot-Marie-Tooth disease type 4 [RCV001233434] | uncertain significance | 12 | 32608066 | 32608066 | Human | 1 | name |
| 38495699 | CV947989 | single nucleotide variant | NM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala) | Charcot-Marie-Tooth disease type 4 [RCV001225890] | uncertain significance | 12 | 32633625 | 32633625 | Human | 1 | name |
| 38495089 | CV947990 | single nucleotide variant | NM_001370298.3(FGD4):c.2425C>G (p.Leu809Val) | Charcot-Marie-Tooth disease type 4 [RCV001225493] | uncertain significance | 12 | 32638766 | 32638766 | Human | 1 | name |
| 41407218 | CV982822 | single nucleotide variant | NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg) | Charcot-Marie-Tooth disease type 4 [RCV001302063]|not provided [RCV001289432]|not specified [RCV005419071] | uncertain significance | 12 | 32624983 | 32624983 | Human | 1 | name |
| 41407219 | CV982823 | single nucleotide variant | NM_001370298.3(FGD4):c.2509C>A (p.Pro837Thr) | Inborn genetic diseases [RCV002418879]|not provided [RCV001289434] | uncertain significance | 12 | 32640330 | 32640330 | Human | 1 | name |
| 126761705 | CV995172 | single nucleotide variant | NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu) | Charcot-Marie-Tooth disease type 4 [RCV001300174]|Inborn genetic diseases [RCV002541916] | uncertain significance | 12 | 32624435 | 32624435 | Human | 2 | name |
| 126755086 | CV995173 | single nucleotide variant | NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg) | Charcot-Marie-Tooth disease type 4 [RCV001298273] | uncertain significance | 12 | 32625771 | 32625771 | Human | 1 | name |
| 150495538 | CV1282979 | insertion | NM_001370298.3(FGD4):c.2046+221_2046+222insTA | not provided [RCV001717401] | benign | 12 | 32625289 | 32625290 | Human | | name |
| 401931977 | CV2806844 | deletion | NM_001370298.3(FGD4):c.875_878del (p.Ser292fs) | not provided [RCV003391698] | pathogenic | 12 | 32582329 | 32582332 | Human | | name |
| 38458362 | CV936091 | microsatellite | NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del) | Charcot-Marie-Tooth disease type 4 [RCV001211388] | uncertain significance | 12 | 32582063 | 32582065 | Human | | name |
| 156307146 | CV1931475 | deletion | NM_001370298.3(FGD4):c.900_902del (p.Val301del) | Charcot-Marie-Tooth disease type 4 [RCV002647949] | uncertain significance | 12 | 32582356 | 32582358 | Human | 1 | name |
| 408394628 | CV3521548 | microsatellite | NM_001370298.3(FGD4):c.1685AAG[1] (p.Glu563del) | Charcot-Marie-Tooth disease type 4H [RCV004764346] | pathogenic|uncertain significance | 12 | 32611219 | 32611221 | Human | | name |
| 13807252 | CV567994 | microsatellite | NM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del) | Charcot-Marie-Tooth disease type 4 [RCV000686620] | uncertain significance | 12 | 32611178 | 32611180 | Human | | name |
| 26907360 | CV851501 | indel | NM_001370298.3(FGD4):c.2244_2313+238delinsGGAGG | Charcot-Marie-Tooth disease type 4 [RCV001052182] | likely pathogenic | 12 | 32633620 | 32633927 | Human | | name |
| 127269447 | CV1062603 | deletion | NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs) | Charcot-Marie-Tooth disease type 4 [RCV001389522] | pathogenic | 12 | 32633627 | 32633628 | Human | 1 | name |
| 150338629 | CV1174320 | deletion | NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs) | Charcot-Marie-Tooth disease type 4 [RCV005057496]|Charcot-Marie-Tooth disease type 4H [RCV001542680] | pathogenic|likely pathogenic | 12 | 32598580 | 32598584 | Human | 2 | name |
| 151872541 | CV1366888 | deletion | NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs) | Charcot-Marie-Tooth disease type 4 [RCV001960633] | pathogenic | 12 | 32640402 | 32640405 | Human | 1 | name |
| 8555923 | CV16052 | microsatellite | NM_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 significance | 12 | 32625059 | 32625060 | Human | | name |
| 11560133 | CV260015 | microsatellite | NM_001370298.3(FGD4):c.1808_1809del (p.Thr603fs) | Charcot-Marie-Tooth disease type 4 [RCV005090295]|not provided [RCV000255773] | pathogenic | 12 | 32619754 | 32619755 | Human | | name |
| 401894502 | CV2788249 | deletion | NM_001370298.3(FGD4):c.2492_2493del (p.Tyr831fs) | Inborn genetic diseases [RCV003371582] | uncertain significance | 12 | 32640312 | 32640313 | Human | 1 | name |
| 597913671 | CV3778741 | microsatellite | NM_001370298.3(FGD4):c.1620_1621del (p.Leu541fs) | Charcot-Marie-Tooth disease type 4 [RCV005129086] | pathogenic | 12 | 32611152 | 32611153 | Human | | name |
| 597841547 | CV3825539 | duplication | NM_001370298.3(FGD4):c.1073_1074dup (p.Val359fs) | Charcot-Marie-Tooth disease type 4 [RCV005172222] | pathogenic | 12 | 32598556 | 32598557 | Human | 1 | name |
| 12894936 | CV408630 | microsatellite | NM_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 significance | 12 | 32633661 | 32633665 | Human | | name |
| 13471153 | CV441535 | deletion | NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs) | Charcot-Marie-Tooth disease type 4H [RCV002289701]|not provided [RCV000518484] | pathogenic|likely pathogenic | 12 | 32602275 | 32602276 | Human | 1 | name |
| 13477531 | CV444975 | microsatellite | NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) | Charcot-Marie-Tooth disease type 4 [RCV003581683]|not provided [RCV000520422] | pathogenic|likely pathogenic | 12 | 32633660 | 32633661 | Human | | name |
| 13625943 | CV527368 | microsatellite | NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs) | Charcot-Marie-Tooth disease type 4 [RCV000654164] | pathogenic | 12 | 32633650 | 32633651 | Human | | name |
| 14699646 | CV625279 | deletion | NM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs) | Charcot-Marie-Tooth disease [RCV000789109]|Charcot-Marie-Tooth disease type 4H [RCV003447174] | uncertain significance | 12 | 32633670 | 32633673 | Human | 2 | name |
| 14699644 | CV625280 | deletion | NM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs) | Charcot-Marie-Tooth disease [RCV000789107]|Charcot-Marie-Tooth disease type 4H [RCV003447172] | uncertain significance | 12 | 32633675 | 32633679 | Human | 2 | name |
| 156188482 | CV2148537 | deletion | NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del) | Charcot-Marie-Tooth disease type 4 [RCV003005927] | uncertain significance | 12 | 32633666 | 32633668 | Human | 1 | name |
| 25316753 | CV804743 | deletion | NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del) | Charcot-Marie-Tooth disease type 4H [RCV001007470] | uncertain significance | 12 | 32624435 | 32624437 | Human | 1 | name |
| 156414048 | CV1915635 | indel | NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val) | Charcot-Marie-Tooth disease type 4 [RCV002588376] | uncertain significance | 12 | 32582301 | 32582302 | Human | | name |
| 14713045 | CV641065 | deletion | NM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del) | Charcot-Marie-Tooth disease type 4 [RCV000810469]|Inborn genetic diseases [RCV002319585]|not provided [RCV004792505] | uncertain significance | 12 | 32582173 | 32582187 | Human | 2 | name |
| 26916961 | CV839841 | duplication | NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly) | Charcot-Marie-Tooth disease type 4 [RCV001056687]|Inborn genetic diseases [RCV002374933] | uncertain significance | 12 | 32576444 | 32576445 | Human | 2 | name |
| 405085278 | CV2980187 | deletion | NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer) | Charcot-Marie-Tooth disease type 4 [RCV003744299] | pathogenic | 12 | 32608046 | 32608049 | Human | 1 | name |