| 12845527 | CV366917 | single nucleotide variant | NM_004637.6(RAB7A):c.-6T>C | not specified [RCV000439976] | likely benign | 3 | 128795362 | 128795362 | Human | | name |
| 8692596 | CV142565 | single nucleotide variant | NM_004637.6(RAB7A):c.-29G>T | Charcot-Marie-Tooth disease type 2B [RCV000294569]|not specified [RCV000127681] | benign|likely benign | 3 | 128726339 | 128726339 | Human | 1 | name |
| 11591548 | CV288620 | single nucleotide variant | NM_004637.6(RAB7A):c.-97C>G | Charcot-Marie-Tooth disease type 2B [RCV000330009]|not provided [RCV001559105] | benign|likely benign | 3 | 128726271 | 128726271 | Human | 1 | name |
| 11655505 | CV288624 | single nucleotide variant | NM_004637.6(RAB7A):c.-18A>G | Charcot-Marie-Tooth disease type 2B [RCV000326107]|RAB7A-related disorder [RCV003983025]|not specified [RCV000607131] | likely benign|uncertain significance | 3 | 128726350 | 128726350 | Human | 1 | name , trait , alternate_id |
| 11597954 | CV289372 | single nucleotide variant | NM_004637.6(RAB7A):c.*85A>G | Charcot-Marie-Tooth disease type 2B [RCV000399701] | uncertain significance | 3 | 128813507 | 128813507 | Human | 1 | name |
| 28905057 | CV887875 | single nucleotide variant | NM_004637.6(RAB7A):c.-61G>A | Charcot-Marie-Tooth disease type 2B [RCV001144734] | uncertain significance | 3 | 128726307 | 128726307 | Human | 1 | name |
| 127249752 | CV1092011 | single nucleotide variant | NM_004637.6(RAB7A):c.53+7T>C | Charcot-Marie-Tooth disease type 2B [RCV001436155] | likely benign | 3 | 128795427 | 128795427 | Human | 1 | name |
| 156142833 | CV1898676 | single nucleotide variant | NM_004637.6(RAB7A):c.54-9C>T | Charcot-Marie-Tooth disease type 2B [RCV003082269] | likely benign | 3 | 128797934 | 128797934 | Human | 1 | name |
| 11582424 | CV288615 | single nucleotide variant | NM_004637.5(RAB7A):c.-215C>T | Charcot-Marie-Tooth disease type 2B [RCV000259719] | benign|uncertain significance | 3 | 128726153 | 128726153 | Human | 1 | name |
| 11659187 | CV288616 | single nucleotide variant | NM_004637.6(RAB7A):c.-154G>A | Charcot-Marie-Tooth disease type 2B [RCV000355514] | uncertain significance | 3 | 128726214 | 128726214 | Human | 1 | name |
| 11657132 | CV288634 | single nucleotide variant | NM_004637.6(RAB7A):c.*165A>T | Charcot-Marie-Tooth disease type 2B [RCV000338755] | uncertain significance | 3 | 128813587 | 128813587 | Human | 1 | name |
| 11589917 | CV288637 | single nucleotide variant | NM_004637.6(RAB7A):c.*206G>A | Charcot-Marie-Tooth disease type 2B [RCV000314361]|not provided [RCV001683368] | benign|likely benign | 3 | 128813628 | 128813628 | Human | 1 | name |
| 11654881 | CV288638 | duplication | NM_004637.6(RAB7A):c.*801dup | Charcot-Marie-Tooth disease type 2 [RCV000321185] | uncertain significance | 3 | 128814222 | 128814223 | Human | 1 | name |
| 11649085 | CV288644 | single nucleotide variant | NM_004637.6(RAB7A):c.*922A>G | Charcot-Marie-Tooth disease type 2B [RCV000285197] | uncertain significance | 3 | 128814344 | 128814344 | Human | 1 | name |
| 11656706 | CV288645 | single nucleotide variant | NM_004637.6(RAB7A):c.*929A>T | Charcot-Marie-Tooth disease type 2B [RCV000335533] | uncertain significance | 3 | 128814351 | 128814351 | Human | 1 | name |
| 11592253 | CV288656 | single nucleotide variant | NM_004637.6(RAB7A):c.*997T>G | Charcot-Marie-Tooth disease type 2B [RCV000336842] | uncertain significance | 3 | 128814419 | 128814419 | Human | 1 | name |
| 11654667 | CV289365 | single nucleotide variant | NM_004637.5(RAB7A):c.-204G>T | Charcot-Marie-Tooth disease type 2B [RCV000319421] | uncertain significance | 3 | 128726164 | 128726164 | Human | 1 | name |
| 11584559 | CV289370 | single nucleotide variant | NM_004637.6(RAB7A):c.-115C>T | Charcot-Marie-Tooth disease type 2B [RCV000274846] | benign|likely benign | 3 | 128726253 | 128726253 | Human | 1 | name |
| 11587814 | CV289373 | single nucleotide variant | NM_004637.6(RAB7A):c.*163T>G | Charcot-Marie-Tooth disease type 2B [RCV000297796]|not provided [RCV004716020] | benign|likely benign | 3 | 128813585 | 128813585 | Human | 1 | name |
| 11597874 | CV289375 | single nucleotide variant | NM_004637.6(RAB7A):c.*181G>A | Charcot-Marie-Tooth disease type 2B [RCV000398805]|not provided [RCV004694705] | uncertain significance | 3 | 128813603 | 128813603 | Human | 1 | name |
| 11591493 | CV289386 | single nucleotide variant | NM_004637.6(RAB7A):c.*625T>C | Charcot-Marie-Tooth disease type 2B [RCV000329491] | benign|uncertain significance | 3 | 128814047 | 128814047 | Human | 1 | name |
| 11596283 | CV289388 | single nucleotide variant | NM_004637.6(RAB7A):c.*863C>G | Charcot-Marie-Tooth disease type 2B [RCV000380515]|not provided [RCV004716021] | benign|likely benign | 3 | 128814285 | 128814285 | Human | 1 | name |
| 11585529 | CV289391 | single nucleotide variant | NM_004637.6(RAB7A):c.*997T>C | Charcot-Marie-Tooth disease type 2B [RCV000281604]|not provided [RCV004716022] | benign|likely benign | 3 | 128814419 | 128814419 | Human | 1 | name |
| 11662219 | CV292394 | single nucleotide variant | NM_004637.6(RAB7A):c.*700C>T | Charcot-Marie-Tooth disease type 2B [RCV000383913] | uncertain significance | 3 | 128814122 | 128814122 | Human | 1 | name |
| 11660931 | CV292395 | deletion | NM_004637.6(RAB7A):c.*997del | Charcot-Marie-Tooth disease type 2 [RCV000371470] | likely benign | 3 | 128814412 | 128814412 | Human | 1 | name |
| 11595172 | CV292532 | single nucleotide variant | NM_004637.6(RAB7A):c.*183A>G | Charcot-Marie-Tooth disease type 2B [RCV000367383]|not provided [RCV001584050] | likely benign|uncertain significance | 3 | 128813605 | 128813605 | Human | 1 | name |
| 11584952 | CV292548 | single nucleotide variant | NM_004637.6(RAB7A):c.*189A>G | Charcot-Marie-Tooth disease type 2B [RCV000277474]|not provided [RCV001718729] | benign|likely benign | 3 | 128813611 | 128813611 | Human | 1 | name |
| 11646223 | CV292549 | single nucleotide variant | NM_004637.6(RAB7A):c.*473G>C | Charcot-Marie-Tooth disease type 2B [RCV000269793] | uncertain significance | 3 | 128813895 | 128813895 | Human | 1 | name |
| 11645574 | CV292550 | single nucleotide variant | NM_004637.6(RAB7A):c.*702T>G | Charcot-Marie-Tooth disease type 2B [RCV000266079] | uncertain significance | 3 | 128814124 | 128814124 | Human | 1 | name |
| 405138202 | CV3072817 | single nucleotide variant | NM_004637.6(RAB7A):c.53+9C>G | Charcot-Marie-Tooth disease type 2B [RCV003619010] | likely benign | 3 | 128795429 | 128795429 | Human | 1 | name |
| 28905053 | CV887874 | single nucleotide variant | NM_004637.6(RAB7A):c.-146G>C | Charcot-Marie-Tooth disease type 2B [RCV001144733] | uncertain significance | 3 | 128726222 | 128726222 | Human | 1 | name |
| 28875322 | CV887877 | single nucleotide variant | NM_004637.6(RAB7A):c.*229C>T | Charcot-Marie-Tooth disease type 2B [RCV001147603] | benign | 3 | 128813651 | 128813651 | Human | 1 | name |
| 28875325 | CV887878 | single nucleotide variant | NM_004637.6(RAB7A):c.*274G>A | Charcot-Marie-Tooth disease type 2B [RCV001147604] | uncertain significance | 3 | 128813696 | 128813696 | Human | 1 | name |
| 28885676 | CV887879 | single nucleotide variant | NM_004637.6(RAB7A):c.*317A>G | Charcot-Marie-Tooth disease type 2B [RCV001150936] | uncertain significance | 3 | 128813739 | 128813739 | Human | 1 | name |
| 28885682 | CV887880 | single nucleotide variant | NM_004637.6(RAB7A):c.*402T>A | Charcot-Marie-Tooth disease type 2B [RCV001150937] | uncertain significance | 3 | 128813824 | 128813824 | Human | 1 | name |
| 28885684 | CV887881 | single nucleotide variant | NM_004637.6(RAB7A):c.*819C>A | Charcot-Marie-Tooth disease type 2B [RCV001150938] | uncertain significance | 3 | 128814241 | 128814241 | Human | 1 | name |
| 28885689 | CV887882 | single nucleotide variant | NM_004637.6(RAB7A):c.*831A>G | Charcot-Marie-Tooth disease type 2B [RCV001150939] | uncertain significance | 3 | 128814253 | 128814253 | Human | 1 | name |
| 28869229 | CV887883 | single nucleotide variant | NM_004637.6(RAB7A):c.*846A>G | Charcot-Marie-Tooth disease type 2B [RCV001144840] | benign | 3 | 128814268 | 128814268 | Human | 1 | name |
| 28869232 | CV887884 | single nucleotide variant | NM_004637.6(RAB7A):c.*908A>C | Charcot-Marie-Tooth disease type 2B [RCV001144841] | uncertain significance | 3 | 128814330 | 128814330 | Human | 1 | name |
| 28869235 | CV887885 | single nucleotide variant | NM_004637.6(RAB7A):c.*956G>A | Charcot-Marie-Tooth disease type 2B [RCV001144842] | uncertain significance | 3 | 128814378 | 128814378 | Human | 1 | name |
| 28869237 | CV887886 | single nucleotide variant | NM_004637.6(RAB7A):c.*974A>G | Charcot-Marie-Tooth disease type 2B [RCV001144843] | uncertain significance | 3 | 128814396 | 128814396 | Human | 1 | name |
| 28869240 | CV887887 | single nucleotide variant | NM_004637.6(RAB7A):c.*989C>G | Charcot-Marie-Tooth disease type 2B [RCV001144844] | uncertain significance | 3 | 128814411 | 128814411 | Human | 1 | name |
| 127334267 | CV1113526 | single nucleotide variant | NM_004637.6(RAB7A):c.529-6G>A | Charcot-Marie-Tooth disease type 2B [RCV001473476] | likely benign | 3 | 128813321 | 128813321 | Human | 1 | name |
| 150437570 | CV1201272 | single nucleotide variant | NM_004637.6(RAB7A):c.53+75G>A | not provided [RCV001583083] | likely benign | 3 | 128795495 | 128795495 | Human | | name |
| 151859307 | CV1403511 | single nucleotide variant | NM_004637.6(RAB7A):c.180+4A>T | Charcot-Marie-Tooth disease type 2B [RCV001979918] | uncertain significance | 3 | 128798073 | 128798073 | Human | 1 | name |
| 152063027 | CV1594608 | single nucleotide variant | NM_004637.6(RAB7A):c.54-20T>C | Charcot-Marie-Tooth disease type 2B [RCV002110357] | likely benign | 3 | 128797923 | 128797923 | Human | 1 | name |
| 152979751 | CV1675764 | single nucleotide variant | NM_004637.6(RAB7A):c.-9+28G>T | not provided [RCV002244355] | likely benign | 3 | 128726387 | 128726387 | Human | | name |
| 156359815 | CV1910774 | single nucleotide variant | NM_004637.6(RAB7A):c.53+14G>T | Charcot-Marie-Tooth disease type 2B [RCV002632597] | likely benign | 3 | 128795434 | 128795434 | Human | 1 | name |
| 11658839 | CV288658 | single nucleotide variant | NM_004637.6(RAB7A):c.*1161C>T | Charcot-Marie-Tooth disease type 2B [RCV000351946] | uncertain significance | 3 | 128814583 | 128814583 | Human | 1 | name |
| 11598012 | CV288662 | single nucleotide variant | NM_004637.6(RAB7A):c.*1301A>G | Charcot-Marie-Tooth disease type 2B [RCV000400359] | uncertain significance | 3 | 128814723 | 128814723 | Human | 1 | name |
| 11597728 | CV292396 | single nucleotide variant | NM_004637.6(RAB7A):c.*1029A>G | Charcot-Marie-Tooth disease type 2B [RCV000397473] | uncertain significance | 3 | 128814451 | 128814451 | Human | 1 | name |
| 11589486 | CV292397 | single nucleotide variant | NM_004637.6(RAB7A):c.*1142G>A | Charcot-Marie-Tooth disease type 2B [RCV000311165] | uncertain significance | 3 | 128814564 | 128814564 | Human | 1 | name |
| 11589052 | CV292403 | single nucleotide variant | NM_004637.6(RAB7A):c.*1374G>A | Charcot-Marie-Tooth disease type 2B [RCV000307747] | benign|likely benign | 3 | 128814796 | 128814796 | Human | 1 | name |
| 405135434 | CV2992019 | duplication | NM_004637.6(RAB7A):c.528+2dup | Charcot-Marie-Tooth disease type 2B [RCV003618743] | uncertain significance | 3 | 128807672 | 128807673 | Human | 1 | name |
| 405135228 | CV2995163 | single nucleotide variant | NM_004637.6(RAB7A):c.181-9C>T | Charcot-Marie-Tooth disease type 2B [RCV003618720] | likely benign | 3 | 128806363 | 128806363 | Human | 1 | name |
| 405125693 | CV3029936 | single nucleotide variant | NM_004637.6(RAB7A):c.400-6T>C | Charcot-Marie-Tooth disease type 2B [RCV003617615] | likely benign | 3 | 128807537 | 128807537 | Human | 1 | name |
| 12834793 | CV368192 | single nucleotide variant | NM_004637.6(RAB7A):c.-8-12T>C | not specified [RCV000420565] | likely benign | 3 | 128795348 | 128795348 | Human | | name |
| 12846629 | CV368195 | single nucleotide variant | NM_004637.6(RAB7A):c.54-17T>C | Charcot-Marie-Tooth disease type 2B [RCV002059843]|not specified [RCV000442008] | likely benign | 3 | 128797926 | 128797926 | Human | 1 | name |
| 13504378 | CV452187 | single nucleotide variant | NM_004637.6(RAB7A):c.180+9A>G | Charcot-Marie-Tooth disease [RCV001173970]|Charcot-Marie-Tooth disease type 2B [RCV000528477]|not provided [RCV001289162]|not specified [RCV000601767] | likely benign | 3 | 128798078 | 128798078 | Human | 2 | name |
| 15127613 | CV695174 | single nucleotide variant | NM_004637.6(RAB7A):c.528+9C>T | Charcot-Marie-Tooth disease type 2B [RCV001445254] | likely benign | 3 | 128807680 | 128807680 | Human | 1 | name |
| 15129684 | CV774906 | single nucleotide variant | NM_004637.6(RAB7A):c.181-4A>T | Charcot-Marie-Tooth disease type 2B [RCV001400682] | likely benign | 3 | 128806368 | 128806368 | Human | 1 | name |
| 15133266 | CV787237 | single nucleotide variant | NM_004637.6(RAB7A):c.180+7A>G | Charcot-Marie-Tooth disease type 2B [RCV000981526] | likely benign | 3 | 128798076 | 128798076 | Human | 1 | name |
| 26898746 | CV851532 | single nucleotide variant | NM_004637.6(RAB7A):c.181-3C>T | Charcot-Marie-Tooth disease type 2B [RCV001039084] | uncertain significance | 3 | 128806369 | 128806369 | Human | 1 | name |
| 28873543 | CV887888 | single nucleotide variant | NM_004637.6(RAB7A):c.*1026G>A | Charcot-Marie-Tooth disease type 2B [RCV001146809] | likely benign | 3 | 128814448 | 128814448 | Human | 1 | name |
| 28873544 | CV887889 | single nucleotide variant | NM_004637.6(RAB7A):c.*1079C>T | Charcot-Marie-Tooth disease type 2B [RCV001146810] | uncertain significance | 3 | 128814501 | 128814501 | Human | 1 | name |
| 28873547 | CV887890 | single nucleotide variant | NM_004637.6(RAB7A):c.*1141C>T | Charcot-Marie-Tooth disease type 2B [RCV001146811] | likely benign | 3 | 128814563 | 128814563 | Human | 1 | name |
| 28875517 | CV887891 | single nucleotide variant | NM_004637.6(RAB7A):c.*1219C>T | Charcot-Marie-Tooth disease type 2B [RCV001147701] | uncertain significance | 3 | 128814641 | 128814641 | Human | 1 | name |
| 28875521 | CV887892 | single nucleotide variant | NM_004637.6(RAB7A):c.*1343C>T | Charcot-Marie-Tooth disease type 2B [RCV001147702] | uncertain significance | 3 | 128814765 | 128814765 | Human | 1 | name |
| 28875524 | CV887893 | single nucleotide variant | NM_004637.6(RAB7A):c.*1344G>A | Charcot-Marie-Tooth disease type 2B [RCV001147703] | uncertain significance | 3 | 128814766 | 128814766 | Human | 1 | name |
| 28905059 | CV891559 | single nucleotide variant | NM_004637.6(RAB7A):c.54-15T>C | Charcot-Marie-Tooth disease type 2B [RCV001144735] | uncertain significance | 3 | 128797928 | 128797928 | Human | 1 | name |
| 127315780 | CV1134384 | single nucleotide variant | NM_004637.6(RAB7A):c.400-10C>T | Charcot-Marie-Tooth disease type 2B [RCV001502825] | likely benign | 3 | 128807533 | 128807533 | Human | 1 | name |
| 150413015 | CV1196993 | single nucleotide variant | NM_004637.6(RAB7A):c.54-207C>T | not provided [RCV001574499] | likely benign | 3 | 128797736 | 128797736 | Human | | name |
| 150487362 | CV1203450 | microsatellite | NM_004637.6(RAB7A):c.*165AC[9] | not provided [RCV001591628] | likely benign | 3 | 128813585 | 128813586 | Human | | name |
| 150451972 | CV1205461 | microsatellite | NM_004637.6(RAB7A):c.*165AC[7] | not provided [RCV001585361] | likely benign | 3 | 128813586 | 128813587 | Human | | name |
| 150507741 | CV1244642 | single nucleotide variant | NM_004637.6(RAB7A):c.-9+220G>T | not provided [RCV001658891] | likely benign | 3 | 128726579 | 128726579 | Human | | name |
| 152074969 | CV1638329 | single nucleotide variant | NM_004637.6(RAB7A):c.399+19A>G | Charcot-Marie-Tooth disease type 2B [RCV002192288] | likely benign | 3 | 128806609 | 128806609 | Human | 1 | name |
| 152123621 | CV1641152 | single nucleotide variant | NM_004637.6(RAB7A):c.529-14G>C | Charcot-Marie-Tooth disease type 2B [RCV002098503] | likely benign | 3 | 128813313 | 128813313 | Human | 1 | name |
| 155997760 | CV1872550 | single nucleotide variant | NM_004637.6(RAB7A):c.400-16C>G | Charcot-Marie-Tooth disease type 2B [RCV003076429] | likely benign | 3 | 128807527 | 128807527 | Human | 1 | name |
| 156174105 | CV2038015 | single nucleotide variant | NM_004637.6(RAB7A):c.528+20C>T | Charcot-Marie-Tooth disease type 2B [RCV002741949] | likely benign | 3 | 128807691 | 128807691 | Human | 1 | name |
| 156343141 | CV2123974 | single nucleotide variant | NM_004637.6(RAB7A):c.400-11T>G | Charcot-Marie-Tooth disease type 2B [RCV002939008] | likely benign | 3 | 128807532 | 128807532 | Human | 1 | name |
| 402497296 | CV2880096 | single nucleotide variant | NM_004637.6(RAB7A):c.400-15T>G | Charcot-Marie-Tooth disease type 2B [RCV003508348] | likely benign | 3 | 128807528 | 128807528 | Human | 1 | name |
| 11662739 | CV288623 | microsatellite | NM_004637.6(RAB7A):c.-70CTC[2] | Charcot-Marie-Tooth disease type 2 [RCV000388938]|not provided [RCV003422330] | benign|uncertain significance | 3 | 128726298 | 128726300 | Human | | name |
| 11653743 | CV288635 | microsatellite | NM_004637.6(RAB7A):c.*182CA[9] | Charcot-Marie-Tooth disease type 2 [RCV000312729]|not provided [RCV001574657] | likely benign|uncertain significance | 3 | 128813603 | 128813604 | Human | | name |
| 402501639 | CV2894273 | single nucleotide variant | NM_004637.6(RAB7A):c.399+14A>G | Charcot-Marie-Tooth disease type 2B [RCV003508793] | likely benign | 3 | 128806604 | 128806604 | Human | 1 | name |
| 405125645 | CV3019550 | single nucleotide variant | NM_004637.6(RAB7A):c.399+17A>C | Charcot-Marie-Tooth disease type 2B [RCV003617610] | likely benign | 3 | 128806607 | 128806607 | Human | 1 | name |
| 405136568 | CV3067083 | single nucleotide variant | NM_004637.6(RAB7A):c.399+12C>T | Charcot-Marie-Tooth disease type 2B [RCV003618877] | likely benign | 3 | 128806602 | 128806602 | Human | 1 | name |
| 402519858 | CV3179410 | single nucleotide variant | NM_004637.6(RAB7A):c.529-20T>G | Charcot-Marie-Tooth disease type 2B [RCV003879661] | likely benign | 3 | 128813307 | 128813307 | Human | 1 | name |
| 597945696 | CV3786967 | single nucleotide variant | NM_004637.6(RAB7A):c.400-15T>C | Charcot-Marie-Tooth disease type 2B [RCV005119787] | likely benign | 3 | 128807528 | 128807528 | Human | 1 | name |
| 597895068 | CV3857279 | deletion | NM_004637.6(RAB7A):c.181-12del | Charcot-Marie-Tooth disease type 2B [RCV005201143] | benign | 3 | 128806357 | 128806357 | Human | 1 | name |
| 597919463 | CV3861696 | single nucleotide variant | NM_004637.6(RAB7A):c.399+16G>T | Charcot-Marie-Tooth disease type 2B [RCV005204852] | likely benign | 3 | 128806606 | 128806606 | Human | 1 | name |
| 14735000 | CV659480 | single nucleotide variant | NM_004637.6(RAB7A):c.400-48C>G | not provided [RCV000837815] | likely benign | 3 | 128807495 | 128807495 | Human | | name |
| 14734996 | CV659483 | single nucleotide variant | NM_004637.6(RAB7A):c.53+233T>C | not provided [RCV000837813] | likely benign | 3 | 128795653 | 128795653 | Human | | name |
| 14719671 | CV659685 | single nucleotide variant | NM_004637.6(RAB7A):c.-8-280A>G | not provided [RCV000830885] | benign | 3 | 128795080 | 128795080 | Human | | name |
| 14726361 | CV659687 | single nucleotide variant | NM_004637.6(RAB7A):c.-8-142T>G | not provided [RCV000833836] | benign | 3 | 128795218 | 128795218 | Human | | name |
| 14723892 | CV659689 | single nucleotide variant | NM_004637.6(RAB7A):c.54-334A>G | not provided [RCV000832737] | benign | 3 | 128797609 | 128797609 | Human | | name |
| 14734998 | CV659696 | single nucleotide variant | NM_004637.6(RAB7A):c.400-49G>T | not provided [RCV000837814] | likely benign | 3 | 128807494 | 128807494 | Human | | name |
| 34890424 | CV905567 | single nucleotide variant | NM_004637.6(RAB7A):c.400-17C>G | Charcot-Marie-Tooth disease [RCV001173968]|Charcot-Marie-Tooth disease type 2B [RCV002068103] | likely benign | 3 | 128807526 | 128807526 | Human | 2 | name |
| 34890426 | CV905568 | single nucleotide variant | NM_004637.6(RAB7A):c.529-11T>G | Charcot-Marie-Tooth disease [RCV001173969]|Charcot-Marie-Tooth disease type 2B [RCV005056987] | likely benign | 3 | 128813316 | 128813316 | Human | 2 | name |
| 150426642 | CV1186509 | single nucleotide variant | NM_004637.6(RAB7A):c.529-187T>A | not provided [RCV001559836] | likely benign | 3 | 128813140 | 128813140 | Human | | name |
| 150432809 | CV1200810 | single nucleotide variant | NM_004637.6(RAB7A):c.529-249T>C | not provided [RCV001581534] | likely benign | 3 | 128813078 | 128813078 | Human | | name |
| 150496217 | CV1206011 | single nucleotide variant | NM_004637.6(RAB7A):c.180+242A>C | not provided [RCV001593693] | likely benign | 3 | 128798311 | 128798311 | Human | | name |
| 150445267 | CV1233148 | single nucleotide variant | NM_004637.6(RAB7A):c.399+276C>T | not provided [RCV001645821] | benign | 3 | 128806866 | 128806866 | Human | | name |
| 14720283 | CV659572 | single nucleotide variant | NM_004637.6(RAB7A):c.181-270C>T | not provided [RCV000831154] | benign | 3 | 128806102 | 128806102 | Human | | name |
| 14726364 | CV659573 | single nucleotide variant | NM_004637.6(RAB7A):c.400-179A>G | not provided [RCV000833837] | benign | 3 | 128807364 | 128807364 | Human | | name |
| 401912531 | CV2824895 | single nucleotide variant | NM_004637.6(RAB7A):c.529-2154C>G | not provided [RCV003427344] | benign | 3 | 128811173 | 128811173 | Human | | name |
| 401944686 | CV2840475 | single nucleotide variant | NM_004637.6(RAB7A):c.529-2097A>G | not provided [RCV003457392] | likely benign | 3 | 128811230 | 128811230 | Human | | name |
| 150436827 | CV1220611 | deletion | NM_004637.6(RAB7A):c.*181_*194del | not provided [RCV001609595] | benign | 3 | 128813590 | 128813603 | Human | | name |
| 156042349 | CV2126922 | microsatellite | NM_004637.6(RAB7A):c.400-13CTT[2] | Charcot-Marie-Tooth disease type 2B [RCV002949670] | likely benign | 3 | 128807530 | 128807532 | Human | | name |
| 11660144 | CV292393 | deletion | NM_004637.6(RAB7A):c.*421_*423del | Charcot-Marie-Tooth disease type 2 [RCV000364403] | uncertain significance | 3 | 128813841 | 128813843 | Human | 1 | name |
| 11659096 | CV292510 | duplication | NM_004637.5(RAB7A):c.-209_-204dup | Charcot-Marie-Tooth disease type 2 [RCV000354507]|not provided [RCV003422329] | benign|uncertain significance | 3 | 128726153 | 128726154 | Human | 1 | name |
| 15101663 | CV686331 | single nucleotide variant | NM_004637.6(RAB7A):c.6C>G (p.Thr2=) | Charcot-Marie-Tooth disease type 2B [RCV001441651] | likely benign | 3 | 128795373 | 128795373 | Human | 1 | name |
| 127290816 | CV1113524 | single nucleotide variant | NM_004637.6(RAB7A):c.18A>G (p.Lys6=) | Charcot-Marie-Tooth disease type 2B [RCV001458537] | likely benign | 3 | 128795385 | 128795385 | Human | 1 | name |
| 13485875 | CV452185 | single nucleotide variant | NM_004637.6(RAB7A):c.21G>A (p.Val7=) | Charcot-Marie-Tooth disease [RCV001173966]|Charcot-Marie-Tooth disease type 2B [RCV000553425]|Inborn genetic diseases [RCV002431604]|RAB7A-related disorder [RCV003925638]|not provided [RCV001571270] | likely benign | 3 | 128795388 | 128795388 | Human | 3 | name , trait , alternate_id |
| 156353806 | CV1910422 | single nucleotide variant | NM_004637.6(RAB7A):c.57C>T (p.Val19=) | Charcot-Marie-Tooth disease type 2B [RCV002632176] | likely benign | 3 | 128797946 | 128797946 | Human | 1 | name |
| 402491052 | CV2865467 | single nucleotide variant | NM_004637.6(RAB7A):c.99C>T (p.Phe33=) | Charcot-Marie-Tooth disease type 2B [RCV003507660] | likely benign | 3 | 128797988 | 128797988 | Human | 1 | name |
| 11596321 | CV292511 | single nucleotide variant | NM_004637.6(RAB7A):c.87G>A (p.Val29=) | Charcot-Marie-Tooth disease [RCV001173967]|Charcot-Marie-Tooth disease type 2B [RCV001087702]|Inborn genetic diseases [RCV002446600]|RAB7A-related disorder [RCV003932385]|not provided [RCV000712887] | benign|likely benign | 3 | 128797976 | 128797976 | Human | 3 | name , trait , alternate_id |
| 597942471 | CV3757805 | single nucleotide variant | NM_004637.6(RAB7A):c.84T>C (p.Tyr28=) | Charcot-Marie-Tooth disease type 2B [RCV005077804] | likely benign | 3 | 128797973 | 128797973 | Human | 1 | name |
| 127245219 | CV1092012 | single nucleotide variant | NM_004637.6(RAB7A):c.252C>T (p.Cys84=) | Charcot-Marie-Tooth disease type 2B [RCV001424263] | likely benign | 3 | 128806443 | 128806443 | Human | 1 | name |
| 127312327 | CV1113525 | single nucleotide variant | NM_004637.6(RAB7A):c.205C>A (p.Arg69=) | Charcot-Marie-Tooth disease type 2B [RCV001464357] | likely benign | 3 | 128806396 | 128806396 | Human | 1 | name |
| 8692597 | CV142566 | single nucleotide variant | NM_004637.6(RAB7A):c.219C>T (p.Leu73=) | Charcot-Marie-Tooth disease [RCV001173973]|Charcot-Marie-Tooth disease type 2B [RCV000538645]|not provided [RCV004717055]|not specified [RCV000127682] | benign|likely benign | 3 | 128806410 | 128806410 | Human | 2 | name |
| 152060058 | CV1540569 | single nucleotide variant | NM_004637.6(RAB7A):c.174A>G (p.Thr58=) | Charcot-Marie-Tooth disease type 2B [RCV002110003] | likely benign | 3 | 128798063 | 128798063 | Human | 1 | name |
| 405132595 | CV2973359 | single nucleotide variant | NM_004637.6(RAB7A):c.294C>G (p.Thr98=) | Charcot-Marie-Tooth disease type 2B [RCV003618450] | likely benign | 3 | 128806485 | 128806485 | Human | 1 | name |
| 405124294 | CV3009667 | single nucleotide variant | NM_004637.6(RAB7A):c.138G>C (p.Leu46=) | Charcot-Marie-Tooth disease type 2B [RCV003617454] | likely benign | 3 | 128798027 | 128798027 | Human | 1 | name |
| 405235858 | CV3168926 | single nucleotide variant | NM_004637.6(RAB7A):c.249C>T (p.Cys83=) | Charcot-Marie-Tooth disease type 2B [RCV003866205] | likely benign | 3 | 128806440 | 128806440 | Human | 1 | name |
| 12834533 | CV367198 | single nucleotide variant | NM_004637.6(RAB7A):c.213G>A (p.Gln71=) | Charcot-Marie-Tooth disease type 2B [RCV000639626]|Inborn genetic diseases [RCV002429415]|not provided [RCV001721321] | benign|likely benign | 3 | 128806404 | 128806404 | Human | 2 | name |
| 12835944 | CV368200 | single nucleotide variant | NM_004637.6(RAB7A):c.183A>C (p.Ile61=) | Charcot-Marie-Tooth disease [RCV001173972]|Charcot-Marie-Tooth disease type 2B [RCV001447351]|Inborn genetic diseases [RCV002411327]|not specified [RCV000422555] | likely benign | 3 | 128806374 | 128806374 | Human | 3 | name |
| 597835284 | CV3760827 | single nucleotide variant | NM_004637.6(RAB7A):c.150G>A (p.Val50=) | Charcot-Marie-Tooth disease type 2B [RCV005085378] | likely benign | 3 | 128798039 | 128798039 | Human | 1 | name |
| 597941182 | CV3785731 | single nucleotide variant | NM_004637.6(RAB7A):c.228C>G (p.Ala76=) | Charcot-Marie-Tooth disease type 2B [RCV005133623] | likely benign | 3 | 128806419 | 128806419 | Human | 1 | name |
| 15100312 | CV682982 | deletion | NM_004637.6(RAB7A):c.79del (p.Gln27fs) | Hereditary sodium channelopathy-related small fibers neuropathy [RCV000857129] | uncertain significance | 3 | 128797967 | 128797967 | Human | 1 | name |
| 127236102 | CV1070279 | single nucleotide variant | NM_004637.6(RAB7A):c.504G>A (p.Thr168=) | Charcot-Marie-Tooth disease type 2B [RCV001392016] | likely benign | 3 | 128807647 | 128807647 | Human | 1 | name |
| 127288414 | CV1113527 | single nucleotide variant | NM_004637.6(RAB7A):c.531A>G (p.Glu177=) | Charcot-Marie-Tooth disease type 2B [RCV001450472] | likely benign | 3 | 128813329 | 128813329 | Human | 1 | name |
| 127327956 | CV1113528 | single nucleotide variant | NM_004637.6(RAB7A):c.534G>A (p.Thr178=) | Charcot-Marie-Tooth disease type 2B [RCV001469352] | likely benign | 3 | 128813332 | 128813332 | Human | 1 | name |
| 127310997 | CV1113529 | single nucleotide variant | NM_004637.6(RAB7A):c.603G>C (p.Ser201=) | Charcot-Marie-Tooth disease type 2B [RCV001456742] | likely benign | 3 | 128813401 | 128813401 | Human | 1 | name |
| 152086217 | CV1633708 | single nucleotide variant | NM_004637.6(RAB7A):c.375C>T (p.Asn125=) | Charcot-Marie-Tooth disease type 2B [RCV002113424] | likely benign | 3 | 128806566 | 128806566 | Human | 1 | name |
| 152046835 | CV1656529 | single nucleotide variant | NM_004637.6(RAB7A):c.543G>A (p.Glu181=) | Charcot-Marie-Tooth disease type 2B [RCV002126743] | likely benign | 3 | 128813341 | 128813341 | Human | 1 | name |
| 155985965 | CV1979590 | single nucleotide variant | NM_004637.6(RAB7A):c.591G>C (p.Arg197=) | Charcot-Marie-Tooth disease type 2B [RCV002617806] | likely benign | 3 | 128813389 | 128813389 | Human | 1 | name |
| 156008021 | CV1989489 | single nucleotide variant | NM_004637.6(RAB7A):c.366G>T (p.Val122=) | Charcot-Marie-Tooth disease type 2B [RCV002636076] | likely benign | 3 | 128806557 | 128806557 | Human | 1 | name |
| 156216606 | CV2039152 | single nucleotide variant | NM_004637.6(RAB7A):c.300T>C (p.Asp100=) | Charcot-Marie-Tooth disease type 2B [RCV002766824] | likely benign | 3 | 128806491 | 128806491 | Human | 1 | name |
| 156022696 | CV2105851 | single nucleotide variant | NM_004637.6(RAB7A):c.74T>C (p.Met25Thr) | Charcot-Marie-Tooth disease type 2B [RCV002923143] | uncertain significance | 3 | 128797963 | 128797963 | Human | 1 | name |
| 11581608 | CV269524 | single nucleotide variant | NM_004637.6(RAB7A):c.423C>G (p.Ala141=) | Charcot-Marie-Tooth disease [RCV001172788]|Charcot-Marie-Tooth disease type 2B [RCV001079171]|Inborn genetic diseases [RCV002328776]|RAB7A-related disorder [RCV003930112]|not provided [RCV000712886]|not specified [RCV000334464] | benign|likely benign | 3 | 128807566 | 128807566 | Human | 3 | name , trait , alternate_id |
| 11585744 | CV288628 | single nucleotide variant | NM_004637.6(RAB7A):c.495G>A (p.Ala165=) | Charcot-Marie-Tooth disease type 2B [RCV000863484]|Inborn genetic diseases [RCV002338942]|not provided [RCV001718728] | benign|likely benign | 3 | 128807638 | 128807638 | Human | 2 | name |
| 11592776 | CV292525 | single nucleotide variant | NM_004637.6(RAB7A):c.552C>T (p.Asn184=) | Charcot-Marie-Tooth disease type 2B [RCV000868648]|Inborn genetic diseases [RCV002348098]|RAB7A-related disorder [RCV003922501] | likely benign|uncertain significance | 3 | 128813350 | 128813350 | Human | 2 | name , trait , alternate_id |
| 405136260 | CV3045759 | single nucleotide variant | NM_004637.6(RAB7A):c.621C>T (p.Cys207=) | Charcot-Marie-Tooth disease type 2B [RCV003618848] | likely benign | 3 | 128813419 | 128813419 | Human | 1 | name |
| 405092694 | CV3122662 | single nucleotide variant | NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser) | Charcot-Marie-Tooth disease type 2B [RCV003811227] | uncertain significance | 3 | 128797978 | 128797978 | Human | 1 | name |
| 13607716 | CV518897 | single nucleotide variant | NM_004637.6(RAB7A):c.414G>T (p.Arg138=) | Charcot-Marie-Tooth disease type 2B [RCV000639625]|Inborn genetic diseases [RCV002331162] | likely benign | 3 | 128807557 | 128807557 | Human | 2 | name |
| 13607714 | CV518922 | single nucleotide variant | NM_004637.6(RAB7A):c.321C>T (p.Leu107=) | Charcot-Marie-Tooth disease [RCV001173971]|Charcot-Marie-Tooth disease type 2B [RCV000639627]|Inborn genetic diseases [RCV002325242] | likely benign | 3 | 128806512 | 128806512 | Human | 3 | name |
| 15129919 | CV691298 | single nucleotide variant | NM_004637.6(RAB7A):c.357A>G (p.Pro119=) | Charcot-Marie-Tooth disease type 2B [RCV001403684] | likely benign | 3 | 128806548 | 128806548 | Human | 1 | name |
| 15122118 | CV691299 | single nucleotide variant | NM_004637.6(RAB7A):c.603G>A (p.Ser201=) | Charcot-Marie-Tooth disease type 2B [RCV000874356]|Inborn genetic diseases [RCV004027842] | likely benign | 3 | 128813401 | 128813401 | Human | 2 | name |
| 151798222 | CV1503908 | single nucleotide variant | NM_004637.6(RAB7A):c.152T>C (p.Met51Thr) | Charcot-Marie-Tooth disease type 2B [RCV001973667] | uncertain significance | 3 | 128798041 | 128798041 | Human | 1 | name |
| 11523062 | CV244408 | single nucleotide variant | NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro) | Charcot-Marie-Tooth disease type 2B [RCV000698626]|Inborn genetic diseases [RCV002401921]|not provided [RCV000235278] | uncertain significance | 3 | 128798056 | 128798056 | Human | 2 | name |
| 11593163 | CV289371 | single nucleotide variant | NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser) | Charcot-Marie-Tooth disease type 2B [RCV000346174] | uncertain significance | 3 | 128806468 | 128806468 | Human | 1 | name |
| 405123077 | CV2993165 | single nucleotide variant | NM_004637.6(RAB7A):c.151A>G (p.Met51Val) | Charcot-Marie-Tooth disease type 2B [RCV003617309] | uncertain significance | 3 | 128798040 | 128798040 | Human | 1 | name |
| 408388182 | CV3520679 | single nucleotide variant | NM_004637.6(RAB7A):c.206G>A (p.Arg69Gln) | Charcot-Marie-Tooth disease type 2B [RCV005059909]|not provided [RCV004761512] | uncertain significance | 3 | 128806397 | 128806397 | Human | 1 | name |
| 597707344 | CV3589167 | single nucleotide variant | NM_004637.6(RAB7A):c.257T>C (p.Leu86Pro) | Inborn genetic diseases [RCV004957512] | uncertain significance | 3 | 128806448 | 128806448 | Human | 1 | name |
| 597894275 | CV3810029 | single nucleotide variant | NM_004637.6(RAB7A):c.179A>G (p.Gln60Arg) | Charcot-Marie-Tooth disease type 2B [RCV005151750] | uncertain significance | 3 | 128798068 | 128798068 | Human | 1 | name |
| 598129296 | CV3888590 | single nucleotide variant | NM_004637.6(RAB7A):c.248G>C (p.Cys83Ser) | not provided [RCV005244764] | uncertain significance | 3 | 128806439 | 128806439 | Human | | name |
| 15100317 | CV682983 | deletion | NM_004637.6(RAB7A):c.331del (p.Ser111fs) | Charcot-Marie-Tooth disease [RCV000857130] | uncertain significance | 3 | 128806522 | 128806522 | Human | 1 | name |
| 15100321 | CV682984 | deletion | NM_004637.6(RAB7A):c.541del (p.Glu181fs) | Hereditary sodium channelopathy-related small fibers neuropathy [RCV000857131] | uncertain significance | 3 | 128813338 | 128813338 | Human | 1 | name |
| 26898122 | CV827518 | single nucleotide variant | NM_004637.6(RAB7A):c.148G>A (p.Val50Met) | Charcot-Marie-Tooth disease type 2B [RCV001035500] | uncertain significance | 3 | 128798037 | 128798037 | Human | 1 | name |
| 126738633 | CV1004493 | single nucleotide variant | NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) | Charcot-Marie-Tooth disease type 2B [RCV001314132]|Inborn genetic diseases [RCV004960747] | uncertain significance | 3 | 128813331 | 128813331 | Human | 2 | name |
| 126768741 | CV1024996 | single nucleotide variant | NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) | Charcot-Marie-Tooth disease type 2B [RCV001343529] | uncertain significance | 3 | 128807546 | 128807546 | Human | 1 | name |
| 126772554 | CV1024997 | single nucleotide variant | NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) | Charcot-Marie-Tooth disease type 2B [RCV001345681] | uncertain significance | 3 | 128807624 | 128807624 | Human | 1 | name |
| 126744056 | CV1024998 | single nucleotide variant | NM_004637.6(RAB7A):c.503C>T (p.Thr168Met) | Charcot-Marie-Tooth disease type 2B [RCV001351229]|Inborn genetic diseases [RCV005262428] | likely benign|uncertain significance | 3 | 128807646 | 128807646 | Human | 2 | name |
| 126924265 | CV1041965 | single nucleotide variant | NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) | Charcot-Marie-Tooth disease type 2B [RCV001366832] | uncertain significance | 3 | 128807610 | 128807610 | Human | 1 | name |
| 127281352 | CV1070280 | single nucleotide variant | NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly) | Charcot-Marie-Tooth disease type 2B [RCV001410402] | likely benign | 3 | 128813387 | 128813387 | Human | 1 | name |
| 151781372 | CV1341878 | single nucleotide variant | NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) | Charcot-Marie-Tooth disease type 2B [RCV001897271] | uncertain significance | 3 | 128813403 | 128813403 | Human | 1 | name |
| 151869846 | CV1372962 | single nucleotide variant | NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn) | Charcot-Marie-Tooth disease type 2B [RCV002035514] | uncertain significance | 3 | 128807577 | 128807577 | Human | 1 | name |
| 151743197 | CV1404420 | single nucleotide variant | NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg) | Charcot-Marie-Tooth disease type 2B [RCV002022525] | uncertain significance | 3 | 128813370 | 128813370 | Human | 1 | name |
| 151800563 | CV1430857 | single nucleotide variant | NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) | Charcot-Marie-Tooth disease type 2B [RCV001877337] | uncertain significance | 3 | 128813400 | 128813400 | Human | 1 | name |
| 151834602 | CV1440429 | single nucleotide variant | NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr) | Charcot-Marie-Tooth disease type 2B [RCV001880646] | uncertain significance | 3 | 128807651 | 128807651 | Human | 1 | name |
| 151714295 | CV1488400 | single nucleotide variant | NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) | Charcot-Marie-Tooth disease type 2B [RCV002002619] | uncertain significance | 3 | 128813390 | 128813390 | Human | 1 | name |
| 155641433 | CV1705944 | single nucleotide variant | NM_004637.6(RAB7A):c.544C>G (p.Leu182Val) | Charcot-Marie-Tooth disease type 2B [RCV002286622] | uncertain significance | 3 | 128813342 | 128813342 | Human | 1 | name |
| 156394070 | CV1962583 | single nucleotide variant | NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp) | Charcot-Marie-Tooth disease type 2B [RCV002584175] | uncertain significance | 3 | 128807632 | 128807632 | Human | 1 | name |
| 156280315 | CV2042789 | single nucleotide variant | NM_004637.6(RAB7A):c.544C>A (p.Leu182Met) | Charcot-Marie-Tooth disease type 2B [RCV002770361] | uncertain significance | 3 | 128813342 | 128813342 | Human | 1 | name |
| 8597495 | CV22384 | single nucleotide variant | NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe) | Charcot-Marie-Tooth disease [RCV000789555]|Charcot-Marie-Tooth disease type 2B [RCV000007770]|not provided [RCV000059221] | pathogenic|uncertain significance|not provided | 3 | 128806576 | 128806576 | Human | 2 | name |
| 8597496 | CV22385 | single nucleotide variant | NM_004637.6(RAB7A):c.484G>A (p.Val162Met) | Charcot-Marie-Tooth disease [RCV000789554]|Charcot-Marie-Tooth disease type 2B [RCV000007771]|not provided [RCV000059224] | pathogenic|uncertain significance|not provided | 3 | 128807627 | 128807627 | Human | 2 | name |
| 8597497 | CV22386 | single nucleotide variant | NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr) | Charcot-Marie-Tooth disease [RCV000789552]|Charcot-Marie-Tooth disease type 2B [RCV000007772]|not provided [RCV000059223] | pathogenic|uncertain significance|not provided | 3 | 128807625 | 128807625 | Human | 2 | name |
| 8597498 | CV22387 | single nucleotide variant | NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn) | Charcot-Marie-Tooth disease [RCV000789553]|Charcot-Marie-Tooth disease type 2B [RCV000007773]|not provided [RCV000059222] | pathogenic|uncertain significance|not provided | 3 | 128807614 | 128807614 | Human | 2 | name |
| 156205202 | CV2249857 | single nucleotide variant | NM_004637.6(RAB7A):c.547T>A (p.Tyr183Asn) | Inborn genetic diseases [RCV002803713] | uncertain significance | 3 | 128813345 | 128813345 | Human | 1 | name |
| 156256774 | CV2374152 | single nucleotide variant | NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr) | Charcot-Marie-Tooth disease type 2B [RCV003778578]|Inborn genetic diseases [RCV002714314] | likely benign|uncertain significance | 3 | 128813390 | 128813390 | Human | 2 | name |
| 243052221 | CV2417787 | single nucleotide variant | NM_004637.6(RAB7A):c.467C>T (p.Ala156Val) | Charcot-Marie-Tooth disease type 2B [RCV003152851] | uncertain significance | 3 | 128807610 | 128807610 | Human | 1 | name |
| 401962732 | CV2845354 | single nucleotide variant | NM_004637.6(RAB7A):c.605C>T (p.Ala202Val) | not provided [RCV003482815] | uncertain significance | 3 | 128813403 | 128813403 | Human | | name |
| 402490542 | CV2854308 | single nucleotide variant | NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn) | Charcot-Marie-Tooth disease type 2B [RCV003507584] | uncertain significance | 3 | 128807607 | 128807607 | Human | 1 | name |
| 405133876 | CV2979327 | single nucleotide variant | NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly) | Charcot-Marie-Tooth disease type 2B [RCV003618608] | uncertain significance | 3 | 128806502 | 128806502 | Human | 1 | name |
| 405048771 | CV3150799 | single nucleotide variant | NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys) | Charcot-Marie-Tooth disease type 2B [RCV003849403] | uncertain significance | 3 | 128806542 | 128806542 | Human | 1 | name |
| 405209580 | CV3162609 | single nucleotide variant | NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr) | Charcot-Marie-Tooth disease type 2B [RCV003861908] | uncertain significance | 3 | 128807564 | 128807564 | Human | 1 | name |
| 402478519 | CV3170277 | single nucleotide variant | NM_004637.6(RAB7A):c.570C>G (p.Ile190Met) | Charcot-Marie-Tooth disease type 2B [RCV003875665] | uncertain significance | 3 | 128813368 | 128813368 | Human | 1 | name |
| 597953479 | CV3757058 | single nucleotide variant | NM_004637.6(RAB7A):c.520C>T (p.Leu174Phe) | Charcot-Marie-Tooth disease type 2B [RCV005079919] | uncertain significance | 3 | 128807663 | 128807663 | Human | 1 | name |
| 597950206 | CV3797825 | single nucleotide variant | NM_004637.6(RAB7A):c.612C>G (p.Ser204Arg) | Charcot-Marie-Tooth disease type 2B [RCV005135819] | uncertain significance | 3 | 128813410 | 128813410 | Human | 1 | name |
| 13482001 | CV443360 | single nucleotide variant | NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr) | Charcot-Marie-Tooth disease type 2B [RCV002528236]|not provided [RCV000521666] | uncertain significance | 3 | 128807649 | 128807649 | Human | 1 | name |
| 13464625 | CV452188 | single nucleotide variant | NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) | Charcot-Marie-Tooth disease type 2B [RCV000542314] | uncertain significance | 3 | 128813375 | 128813375 | Human | 1 | name |
| 13607718 | CV518926 | single nucleotide variant | NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) | Charcot-Marie-Tooth disease type 2B [RCV000639624]|not provided [RCV002473082] | likely benign|uncertain significance | 3 | 128813349 | 128813349 | Human | 1 | name |
| 13821450 | CV558820 | single nucleotide variant | NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) | Charcot-Marie-Tooth disease type 2B [RCV000695902]|Inborn genetic diseases [RCV002343491] | likely benign|uncertain significance | 3 | 128813366 | 128813366 | Human | 2 | name |
| 14699962 | CV625104 | single nucleotide variant | NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile) | Charcot-Marie-Tooth disease [RCV000789556]|Charcot-Marie-Tooth disease type 2B [RCV001386686] | pathogenic|uncertain significance | 3 | 128807625 | 128807625 | Human | 2 | name |
| 21067565 | CV793001 | single nucleotide variant | NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr) | Charcot-Marie-Tooth disease type 2B [RCV001858754]|not provided [RCV000992739] | likely pathogenic|uncertain significance | 3 | 128807609 | 128807609 | Human | 1 | name |
| 26900313 | CV827519 | single nucleotide variant | NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn) | Charcot-Marie-Tooth disease type 2B [RCV001049977] | pathogenic | 3 | 128807614 | 128807614 | Human | 1 | name |
| 26900397 | CV827520 | single nucleotide variant | NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) | Charcot-Marie-Tooth disease type 2B [RCV001050283] | uncertain significance | 3 | 128807625 | 128807625 | Human | 1 | name |
| 26899277 | CV827521 | single nucleotide variant | NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) | Charcot-Marie-Tooth disease type 2B [RCV001043273]|Inborn genetic diseases [RCV004659305] | uncertain significance | 3 | 128813388 | 128813388 | Human | 2 | name |
| 28873327 | CV887876 | single nucleotide variant | NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) | Charcot-Marie-Tooth disease type 2B [RCV001146704] | uncertain significance | 3 | 128807599 | 128807599 | Human | 1 | name |
| 34890423 | CV905130 | single nucleotide variant | NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly) | Charcot-Marie-Tooth disease [RCV001173965] | uncertain significance | 3 | 128806522 | 128806522 | Human | 1 | name |
| 38468049 | CV931756 | single nucleotide variant | NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) | Charcot-Marie-Tooth disease type 2B [RCV001202133] | uncertain significance | 3 | 128806568 | 128806568 | Human | 1 | name |
| 38485159 | CV931757 | single nucleotide variant | NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) | Charcot-Marie-Tooth disease type 2B [RCV001208352]|Inborn genetic diseases [RCV002356894] | uncertain significance | 3 | 128813387 | 128813387 | Human | 2 | name |
| 38486329 | CV943318 | single nucleotide variant | NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) | Charcot-Marie-Tooth disease type 2B [RCV001237164] | uncertain significance | 3 | 128807591 | 128807591 | Human | 1 | name |
| 41406964 | CV982489 | single nucleotide variant | NM_004637.6(RAB7A):c.391A>G (p.Asn131Asp) | not provided [RCV001289163] | uncertain significance | 3 | 128806582 | 128806582 | Human | | name |
