| NM_006158.4(NEFL):c.1026C>G (p.Ala342=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000549995]|not specified [RCV000608783] |
Chr8:24955490 [GRCh38]
Chr8:24813004 [GRCh37]
Chr8:8p21.2 |
benign|likely benign |
| NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000554848] |
Chr8:24955934 [GRCh38]
Chr8:24813448 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.1471_1472delinsTT (p.Ala491Leu) |
indel |
not specified [RCV000516180] |
Chr8:24953493..24953494 [GRCh38]
Chr8:24811006..24811007 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000034135] |
Chr8:24955515 [GRCh38]
Chr8:24813029 [GRCh37]
Chr8:8p21.2 |
pathogenic |
| NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) |
single nucleotide variant |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G [RCV000585792]|Charcot-Marie-Tooth disease [RCV000857201]|Charcot-Marie-Tooth disease type 2E [RCV000554079]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034136]|Charcot-Marie-Tooth disease, type IF [RCV000034136]|not provided [RCV000057136] |
Chr8:24956223 [GRCh38]
Chr8:24813737 [GRCh37]
Chr8:8p21.2 |
pathogenic|uncertain significance|not provided |
| NM_006158.4(NEFL):c.446C>T (p.Ala149Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034137]|Charcot-Marie-Tooth disease, type IF [RCV000034137]|not provided [RCV000057139] |
Chr8:24956070 [GRCh38]
Chr8:24813584 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034138]|Charcot-Marie-Tooth disease, type IF [RCV000034138]|not provided [RCV000057143] |
Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034139]|Charcot-Marie-Tooth disease, type IF [RCV000034139]|not provided [RCV000057145] |
Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000022674]|Charcot-Marie-Tooth disease, type IF [RCV000022674] |
Chr8:24955888 [GRCh38]
Chr8:24813402 [GRCh37]
Chr8:8p21.2 |
pathogenic |
| NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000015072]|not provided [RCV000057151] |
Chr8:24955521 [GRCh38]
Chr8:24813035 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000015073]|Charcot-Marie-Tooth disease, type 1C [RCV000194357]|Charcot-Marie-Tooth disease, type IC [RCV000194357]|Decreased nerve conduction velocity [RCV000414916]|Peripheral neuropathy [RCV000414916]|Peripheral neuropathy [RCV000415401]|Pes cavus [RCV000415401]|not provided [RCV000057144] |
Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2 |
pathogenic|likely pathogenic|not provided |
| NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) |
indel |
Charcot-Marie-Tooth disease [RCV000192246]|Charcot-Marie-Tooth disease type 2E [RCV000015074]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015075]|Charcot-Marie-Tooth disease, type IF [RCV000015075]|not provided [RCV000057129] |
Chr8:24956493..24956494 [GRCh38]
Chr8:24814007..24814008 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NEFL, 3-BP DEL, 1581GAG |
deletion |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015076]|Charcot-Marie-Tooth disease, type IF [RCV000015076] |
Chr8:8p21 |
pathogenic |
| NEFL, 13-BP DUP/INS, NT61 |
duplication |
Charcot-Marie-Tooth disease type 2E [RCV000015077] |
Chr8:8p21 |
pathogenic |
| NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000015078]|not provided [RCV000057135] |
Chr8:24956235 [GRCh38]
Chr8:24813749 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015079]|Charcot-Marie-Tooth disease, type IF [RCV000015079]|not provided [RCV000057137] |
Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.1287C>T (p.Thr429=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640668] |
Chr8:24953678 [GRCh38]
Chr8:24811192 [GRCh37]
Chr8:8p21.2 |
likely benign|uncertain significance |
| NM_006158.4(NEFL):c.321C>G (p.Arg107=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640669] |
Chr8:24956195 [GRCh38]
Chr8:24813709 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.621C>G (p.Ala207=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640672] |
Chr8:24955895 [GRCh38]
Chr8:24813409 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000809657]|not specified [RCV000516482] |
Chr8:24955723 [GRCh38]
Chr8:24813237 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000530689] |
Chr8:24955719 [GRCh38]
Chr8:24813233 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.716A>G (p.Gln239Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000546476]|not specified [RCV000518369] |
Chr8:24955800 [GRCh38]
Chr8:24813314 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) |
microsatellite |
Charcot-Marie-Tooth disease type 2E [RCV000701661]|not specified [RCV000518110] |
Chr8:24953636..24953638 [GRCh38]
Chr8:24811150..24811152 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
Coloboma [RCV000050294]|Congenital ocular coloboma [RCV000050294]|See cases [RCV000050294] |
Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050297]|See cases [RCV000050297] |
Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050912]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050912]|See cases [RCV000050912] |
Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051145]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051145]|See cases [RCV000051145] |
Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
Seizures [RCV000051206]|See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051110]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051110]|See cases [RCV000051110] |
Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 |
copy number gain |
Absent speech [RCV000052167]|See cases [RCV000052167] |
Chr8:23961808..25436108 [GRCh38]
Chr8:23819321..25293624 [GRCh37]
Chr8:23875266..25349541 [NCBI36]
Chr8:8p21.2 |
uncertain significance |
| GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052168]|See cases [RCV000052168] |
Chr8:24463803..25049184 [GRCh38]
Chr8:24321316..24906699 [GRCh37]
Chr8:24377206..24962616 [NCBI36]
Chr8:8p21.2 |
uncertain significance |
| GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 |
copy number gain |
Abnormal facial shape [RCV000053629]|See cases [RCV000053629] |
Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 |
copy number gain |
Global developmental delay [RCV000053630]|See cases [RCV000053630] |
Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] |
Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 |
copy number gain |
Corpus callosum agenesis [RCV000053632]|See cases [RCV000053632] |
Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 |
copy number gain |
Micrognathia [RCV000053633]|See cases [RCV000053633] |
Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053635]|See cases [RCV000053635] |
Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 |
copy number gain |
Abnormality of the heart [RCV000053599]|See cases [RCV000053599] |
Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 |
copy number loss |
Chiari malformation type II [RCV000054237]|See cases [RCV000054237] |
Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12 |
pathogenic |
| NM_006158.4(NEFL):c.1534G>A (p.Gly512Ser) |
single nucleotide variant |
Malignant melanoma [RCV000068258] |
Chr8:24952908 [GRCh38]
Chr8:24810421 [GRCh37]
Chr8:24866338 [NCBI36]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.-44_-42delinsATG |
indel |
not provided [RCV000057110] |
Chr8:24956557..24956559 [GRCh38]
Chr8:24814071..24814073 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.-54_-53TC[3] |
microsatellite |
not provided [RCV000057111] |
Chr8:24956562..24956563 [GRCh38]
Chr8:24814076..24814077 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1045-22dup |
duplication |
not provided [RCV000057112] |
Chr8:24954323..24954324 [GRCh38]
Chr8:24811837..24811838 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) |
single nucleotide variant |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G [RCV000585797]|Charcot-Marie-Tooth disease type 2E [RCV000534161]|not provided [RCV000057113] |
Chr8:24953779 [GRCh38]
Chr8:24811293 [GRCh37]
Chr8:8p21.2 |
pathogenic|not provided |
| NM_006158.4(NEFL):c.1189G>A (p.Glu397Lys) |
single nucleotide variant |
not provided [RCV000057114] |
Chr8:24953776 [GRCh38]
Chr8:24811290 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1212C>T (p.Ser404=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000550758]|Charcot-Marie-Tooth disease, type I [RCV000261709]|Charcot-Marie-Tooth, Type 1 [RCV000261709]|not provided [RCV000057115]|not specified [RCV000420597] |
Chr8:24953753 [GRCh38]
Chr8:24811267 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|uncertain significance|not provided |
| NM_006158.4(NEFL):c.123C>T (p.Ser41=) |
single nucleotide variant |
not provided [RCV000057116] |
Chr8:24956393 [GRCh38]
Chr8:24813907 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1329C>A (p.Tyr443Ter) |
single nucleotide variant |
not provided [RCV000057117] |
Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000539502]|Charcot-Marie-Tooth disease, type I [RCV000311183]|Charcot-Marie-Tooth, Type 1 [RCV000311183]|not provided [RCV000057118]|not specified [RCV000444012] |
Chr8:24953563 [GRCh38]
Chr8:24811077 [GRCh37]
Chr8:8p21.2 |
likely benign|not provided |
| NM_006158.4(NEFL):c.1458C>T (p.Ala486=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000528848]|not provided [RCV000057119]|not specified [RCV000789604] |
Chr8:24953507 [GRCh38]
Chr8:24811020 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|uncertain significance|not provided |
| NM_006158.4(NEFL):c.1492G>A (p.Ala498Thr) |
single nucleotide variant |
not provided [RCV000057120]|not specified [RCV000789605] |
Chr8:24952950 [GRCh38]
Chr8:24810463 [GRCh37]
Chr8:8p21.2 |
likely benign|not provided |
| NM_006158.4(NEFL):c.1560C>A (p.Thr520=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640671]|not provided [RCV000057121] |
Chr8:24952882 [GRCh38]
Chr8:24810395 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|not provided |
| NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del) |
microsatellite |
Charcot-Marie-Tooth disease type 2E [RCV000474245]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015076]|not provided [RCV000057123]|not specified [RCV000481083] |
Chr8:24952861..24952863 [GRCh38]
Chr8:24810374..24810376 [GRCh37]
Chr8:8p21.2 |
pathogenic|benign|not provided |
| NM_006158.4(NEFL):c.1590T>G (p.Val530=) |
single nucleotide variant |
not provided [RCV000057124]|not specified [RCV000441793] |
Chr8:24952852 [GRCh38]
Chr8:24810365 [GRCh37]
Chr8:8p21.2 |
likely benign|not provided |
| NM_006158.4(NEFL):c.189G>A (p.Ser63=) |
single nucleotide variant |
not provided [RCV000057125] |
Chr8:24956327 [GRCh38]
Chr8:24813841 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789662]|not provided [RCV000057126] |
Chr8:24956497 [GRCh38]
Chr8:24814011 [GRCh37]
Chr8:8p21.2 |
uncertain significance|not provided |
| NM_006158.4(NEFL):c.227T>A (p.Val76Glu) |
single nucleotide variant |
not provided [RCV000057127] |
Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.227T>C (p.Val76Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000460591]|Charcot-Marie-Tooth disease, type I [RCV000267478]|Charcot-Marie-Tooth, Type 1 [RCV000267478]|not provided [RCV000057128]|not specified [RCV000790247] |
Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|not provided |
| NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) |
single nucleotide variant |
not provided [RCV000057130] |
Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789663]|Charcot-Marie-Tooth disease type 2E [RCV000234847]|not provided [RCV000057131] |
Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2 |
pathogenic|uncertain significance|not provided |
| NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) |
single nucleotide variant |
not provided [RCV000057132] |
Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.268G>A (p.Glu90Lys) |
single nucleotide variant |
not provided [RCV000057133] |
Chr8:24956248 [GRCh38]
Chr8:24813762 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.279G>A (p.Gln93=) |
single nucleotide variant |
not provided [RCV000057134]|not specified [RCV000789602] |
Chr8:24956237 [GRCh38]
Chr8:24813751 [GRCh37]
Chr8:8p21.2 |
uncertain significance|not provided |
| NM_006158.4(NEFL):c.423G>A (p.Gln141=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000542252]|not provided [RCV000057138]|not specified [RCV000609209] |
Chr8:24956093 [GRCh38]
Chr8:24813607 [GRCh37]
Chr8:8p21.2 |
likely benign|not provided |
| NM_006158.4(NEFL):c.45G>A (p.Lys15=) |
single nucleotide variant |
not provided [RCV000057140] |
Chr8:24956471 [GRCh38]
Chr8:24813985 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000790245]|Charcot-Marie-Tooth disease type 2E [RCV000015077]|not provided [RCV000057141] |
Chr8:24956455..24956456 [GRCh38]
Chr8:24813969..24813970 [GRCh37]
Chr8:8p21.2 |
pathogenic|uncertain significance|not provided |
| NM_006158.4(NEFL):c.639C>G (p.Ile213Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000466392]|not provided [RCV000057142]|not specified [RCV000507003] |
Chr8:24955877 [GRCh38]
Chr8:24813391 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_006158.4(NEFL):c.667C>T (p.Leu223=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000471918]|Charcot-Marie-Tooth disease, type I [RCV000352974]|Charcot-Marie-Tooth, Type 1 [RCV000352974]|not provided [RCV000057146]|not specified [RCV000375590] |
Chr8:24955849 [GRCh38]
Chr8:24813363 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|not provided |
| NM_006158.4(NEFL):c.720C>T (p.Tyr240=) |
single nucleotide variant |
not provided [RCV000057147]|not specified [RCV000789603] |
Chr8:24955796 [GRCh38]
Chr8:24813310 [GRCh37]
Chr8:8p21.2 |
benign|not provided |
| NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) |
single nucleotide variant |
not provided [RCV000057148] |
Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.963_977del (p.Cys322_Asn326del) |
deletion |
not provided [RCV000057149] |
Chr8:24955539..24955553 [GRCh38]
Chr8:24813053..24813067 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.969G>T (p.Arg323=) |
single nucleotide variant |
not provided [RCV000057150] |
Chr8:24955547 [GRCh38]
Chr8:24813061 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.998T>C (p.Leu333Pro) |
single nucleotide variant |
not provided [RCV000057152] |
Chr8:24955518 [GRCh38]
Chr8:24813032 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1576dup (p.Glu526fs) |
duplication |
not provided [RCV000057122] |
Chr8:24952865..24952866 [GRCh38]
Chr8:24810378..24810379 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1170-13T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000316969]|Charcot-Marie-Tooth, Type 1 [RCV000316969]|not specified [RCV000127189] |
Chr8:24953808 [GRCh38]
Chr8:24811322 [GRCh37]
Chr8:8p21.2 |
benign|likely benign |
| NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) |
single nucleotide variant |
not provided [RCV000143807] |
Chr8:24955509 [GRCh38]
Chr8:24813023 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789071]|not provided [RCV000143808] |
Chr8:24953646 [GRCh38]
Chr8:24811160 [GRCh37]
Chr8:8p21.2 |
likely pathogenic|uncertain significance |
| NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000205727]|not provided [RCV000143809] |
Chr8:24956227 [GRCh38]
Chr8:24813741 [GRCh37]
Chr8:8p21.2 |
benign|uncertain significance |
| NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857200]|not provided [RCV000143810] |
Chr8:24955722 [GRCh38]
Chr8:24813236 [GRCh37]
Chr8:8p21.2 |
likely pathogenic|uncertain significance |
| NM_006158.4(NEFL):c.803T>G (p.Leu268Arg) |
single nucleotide variant |
not provided [RCV000143811] |
Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000172912] |
Chr8:24953704 [GRCh38]
Chr8:24811218 [GRCh37]
Chr8:8p21.2 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 |
copy number gain |
See cases [RCV000135786] |
Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 |
copy number gain |
See cases [RCV000135566] |
Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 |
copy number gain |
See cases [RCV000136516] |
Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 |
copy number loss |
See cases [RCV000136120] |
Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 |
copy number gain |
See cases [RCV000136825] |
Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 |
copy number gain |
See cases [RCV000137249] |
Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 |
copy number gain |
See cases [RCV000138058] |
Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 |
copy number gain |
See cases [RCV000137878] |
Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2 |
uncertain significance |
| GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 |
copy number gain |
See cases [RCV000137807] |
Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 |
copy number gain |
See cases [RCV000138831] |
Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 |
copy number gain |
See cases [RCV000138244] |
Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 |
copy number gain |
See cases [RCV000139891] |
Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22 |
pathogenic |
| GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 |
copy number gain |
See cases [RCV000139770] |
Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 |
copy number gain |
See cases [RCV000139796] |
Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 |
copy number gain |
See cases [RCV000139549] |
Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23 |
pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 |
copy number gain |
See cases [RCV000141410] |
Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 |
copy number loss |
See cases [RCV000142516] |
Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 |
copy number loss |
See cases [RCV000142747] |
Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 |
copy number gain |
See cases [RCV000143508] |
Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000148249] |
Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000148237] |
Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000148252] |
Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1 |
pathogenic |
| Single allele |
duplication |
Gestational diabetes mellitus uncontrolled [RCV000161539] |
Chr8:24604793..25028671 [GRCh37]
Chr8:8p21.2 |
not provided |
| NM_006158.4(NEFL):c.1407G>A (p.Glu469=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000196314]|Charcot-Marie-Tooth disease, type I [RCV000407613]|Charcot-Marie-Tooth, Type 1 [RCV000407613]|not specified [RCV000437037] |
Chr8:24953558 [GRCh38]
Chr8:24811072 [GRCh37]
Chr8:8p21.2 |
benign|likely benign |
| NM_006158.4(NEFL):c.65C>A (p.Pro22His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000205038] |
Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000203777]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000764772]|not specified [RCV000235949] |
Chr8:24952832 [GRCh38]
Chr8:24810345 [GRCh37]
Chr8:8p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000206730]|not specified [RCV000518282] |
Chr8:24955548 [GRCh38]
Chr8:24813062 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 |
copy number gain |
See cases [RCV000203434] |
Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12 |
pathogenic |
| NM_006158.4(NEFL):c.1407_1408delinsA (p.Ser472fs) |
indel |
not provided [RCV000756414] |
Chr8:24953557..24953558 [GRCh38]
Chr8:24811071..24811072 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000535984]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000764773]|not provided [RCV000762503]|not specified [RCV000220753] |
Chr8:24955530 [GRCh38]
Chr8:24813044 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1588G>T (p.Val530Phe) |
single nucleotide variant |
not specified [RCV000218430] |
Chr8:24952854 [GRCh38]
Chr8:24810367 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.487G>C (p.Glu163Gln) |
single nucleotide variant |
not specified [RCV000218821] |
Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1373T>C (p.Ile458Thr) |
single nucleotide variant |
not specified [RCV000216546] |
Chr8:24953592 [GRCh38]
Chr8:24811106 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.780C>T (p.Asp260=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000226239] |
Chr8:24955736 [GRCh38]
Chr8:24813250 [GRCh37]
Chr8:8p21.2 |
likely benign |
| GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 |
copy number gain |
See cases [RCV000511325] |
Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22 |
pathogenic |
| NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857196]|Charcot-Marie-Tooth disease type 2E [RCV000640659]|not specified [RCV000235511] |
Chr8:24953786 [GRCh38]
Chr8:24811300 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 |
copy number gain |
See cases [RCV000239945] |
Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2 |
pathogenic |
| NM_006158.4(NEFL):c.572G>A (p.Arg191Gln) |
single nucleotide variant |
not specified [RCV000517287] |
Chr8:24955944 [GRCh38]
Chr8:24813458 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*883G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000269943]|Charcot-Marie-Tooth, Type 1 [RCV000269943] |
Chr8:24951927 [GRCh38]
Chr8:24809440 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*486T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000286843]|Charcot-Marie-Tooth, Type 1 [RCV000286843] |
Chr8:24952324 [GRCh38]
Chr8:24809837 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*426G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000373061]|Charcot-Marie-Tooth, Type 1 [RCV000373061] |
Chr8:24952384 [GRCh38]
Chr8:24809897 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.*244A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000400041]|Charcot-Marie-Tooth, Type 1 [RCV000400041] |
Chr8:24952566 [GRCh38]
Chr8:24810079 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*878A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000327322]|Charcot-Marie-Tooth, Type 1 [RCV000327322] |
Chr8:24951932 [GRCh38]
Chr8:24809445 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*82T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000307000]|Charcot-Marie-Tooth, Type 1 [RCV000307000] |
Chr8:24952728 [GRCh38]
Chr8:24810241 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1643G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000376650]|Charcot-Marie-Tooth, Type 1 [RCV000376650] |
Chr8:24951167 [GRCh38]
Chr8:24808680 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1806T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000290458]|Charcot-Marie-Tooth, Type 1 [RCV000290458] |
Chr8:24951004 [GRCh38]
Chr8:24808517 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1256G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000311138]|Charcot-Marie-Tooth, Type 1 [RCV000311138] |
Chr8:24951554 [GRCh38]
Chr8:24809067 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640667]|Charcot-Marie-Tooth disease, type I [RCV000356601]|Charcot-Marie-Tooth, Type 1 [RCV000356601] |
Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2 |
benign|likely benign |
| NM_006158.4(NEFL):c.*235A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000294023]|Charcot-Marie-Tooth, Type 1 [RCV000294023] |
Chr8:24952575 [GRCh38]
Chr8:24810088 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.*1107C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000314514]|Charcot-Marie-Tooth, Type 1 [RCV000314514] |
Chr8:24951703 [GRCh38]
Chr8:24809216 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*378A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000338445]|Charcot-Marie-Tooth, Type 1 [RCV000338445] |
Chr8:24952432 [GRCh38]
Chr8:24809945 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1100C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000362239]|Charcot-Marie-Tooth, Type 1 [RCV000362239] |
Chr8:24951710 [GRCh38]
Chr8:24809223 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*687G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000264408]|Charcot-Marie-Tooth, Type 1 [RCV000264408] |
Chr8:24952123 [GRCh38]
Chr8:24809636 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.*407_*408del |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000280884]|Charcot-Marie-Tooth, Type 1 [RCV000280884] |
Chr8:24952402..24952403 [GRCh38]
Chr8:24809915..24809916 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1344G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000297649]|Charcot-Marie-Tooth, Type 1 [RCV000297649] |
Chr8:24951466 [GRCh38]
Chr8:24808979 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*485A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000316144]|Charcot-Marie-Tooth, Type 1 [RCV000316144] |
Chr8:24952325 [GRCh38]
Chr8:24809838 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*51A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000364047]|Charcot-Marie-Tooth, Type 1 [RCV000364047] |
Chr8:24952759 [GRCh38]
Chr8:24810272 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*101A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000389986]|Charcot-Marie-Tooth, Type 1 [RCV000389986] |
Chr8:24952709 [GRCh38]
Chr8:24810222 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1198G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000368106]|Charcot-Marie-Tooth, Type 1 [RCV000368106] |
Chr8:24951612 [GRCh38]
Chr8:24809125 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1155T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000392666]|Charcot-Marie-Tooth, Type 1 [RCV000392666] |
Chr8:24951655 [GRCh38]
Chr8:24809168 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789666]|not specified [RCV000319997] |
Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000408890] |
Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2 |
pathogenic |
| NM_006158.4(NEFL):c.*6del |
deletion |
not provided [RCV000487701] |
Chr8:24952804 [GRCh38]
Chr8:24810317 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1261C>A (p.Arg421=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000526896] |
Chr8:24953704 [GRCh38]
Chr8:24811218 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1044+20A>T |
single nucleotide variant |
not specified [RCV000603215] |
Chr8:24955452 [GRCh38]
Chr8:24812966 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.*1342A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000399540]|Charcot-Marie-Tooth, Type 1 [RCV000399540] |
Chr8:24951468 [GRCh38]
Chr8:24808981 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*1744T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000347797]|Charcot-Marie-Tooth, Type 1 [RCV000347797] |
Chr8:24951066 [GRCh38]
Chr8:24808579 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*1349T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000402325]|Charcot-Marie-Tooth, Type 1 [RCV000402325] |
Chr8:24951461 [GRCh38]
Chr8:24808974 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*856T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000366069]|Charcot-Marie-Tooth, Type 1 [RCV000366069] |
Chr8:24951954 [GRCh38]
Chr8:24809467 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*1609_*1612del |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000284586]|Charcot-Marie-Tooth, Type 1 [RCV000284586] |
Chr8:24951198..24951201 [GRCh38]
Chr8:24808711..24808714 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*1340_*1342del |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000336287]|Charcot-Marie-Tooth, Type 1 [RCV000336287] |
Chr8:24951468..24951470 [GRCh38]
Chr8:24808981..24808983 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*171C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000351230]|Charcot-Marie-Tooth, Type 1 [RCV000351230] |
Chr8:24952639 [GRCh38]
Chr8:24810152 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*577T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000321938]|Charcot-Marie-Tooth, Type 1 [RCV000321938] |
Chr8:24952233 [GRCh38]
Chr8:24809746 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.141G>A (p.Val47=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000322687]|Charcot-Marie-Tooth, Type 1 [RCV000322687] |
Chr8:24956375 [GRCh38]
Chr8:24813889 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*1482C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000342033]|Charcot-Marie-Tooth, Type 1 [RCV000342033] |
Chr8:24951328 [GRCh38]
Chr8:24808841 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.-68T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000377265]|Charcot-Marie-Tooth, Type 1 [RCV000377265] |
Chr8:24956583 [GRCh38]
Chr8:24814097 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.*565del |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000378901]|Charcot-Marie-Tooth, Type 1 [RCV000378901] |
Chr8:24952245 [GRCh38]
Chr8:24809758 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640660] |
Chr8:24955923 [GRCh38]
Chr8:24813437 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640663] |
Chr8:24954233 [GRCh38]
Chr8:24811747 [GRCh37]
Chr8:8p21.2 |
pathogenic |
| NM_006158.4(NEFL):c.270G>C (p.Glu90Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640666] |
Chr8:24956246 [GRCh38]
Chr8:24813760 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) |
copy number gain |
Autistic disorder of childhood onset [RCV000626542] |
Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2 |
pathogenic |
| NM_006158.4(NEFL):c.520C>T (p.Leu174=) |
single nucleotide variant |
not provided [RCV000584847] |
Chr8:24955996 [GRCh38]
Chr8:24813510 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) |
indel |
Charcot-Marie-Tooth disease type 2E [RCV000529660]|Inborn genetic diseases [RCV000624055]|not provided [RCV000712412] |
Chr8:24956177..24956178 [GRCh38]
Chr8:24813691..24813692 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|uncertain significance |
| NM_006158.4(NEFL):c.1185C>T (p.Gly395=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640664] |
Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV000768452] |
Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12 |
likely pathogenic |
| NM_006158.4(NEFL):c.1045-2A>G |
single nucleotide variant |
not specified [RCV000524009] |
Chr8:24954307 [GRCh38]
Chr8:24811821 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.294T>G (p.Asn98Lys) |
single nucleotide variant |
not provided [RCV000413716] |
Chr8:24956222 [GRCh38]
Chr8:24813736 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000559005] |
Chr8:24955720 [GRCh38]
Chr8:24813234 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 |
copy number gain |
See cases [RCV000449225] |
Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12 |
pathogenic |
| GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 |
copy number gain |
See cases [RCV000446588] |
Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_006158.4(NEFL):c.1275C>T (p.Gly425=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640670]|not specified [RCV000423639] |
Chr8:24953690 [GRCh38]
Chr8:24811204 [GRCh37]
Chr8:8p21.2 |
benign|likely benign |
| NM_006158.4(NEFL):c.855C>T (p.Thr285=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000543296]|not specified [RCV000420823] |
Chr8:24955661 [GRCh38]
Chr8:24813175 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006158.4(NEFL):c.-37A>C |
single nucleotide variant |
not specified [RCV000429034] |
Chr8:24956552 [GRCh38]
Chr8:24814066 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.584C>T (p.Ala195Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000531003]|not specified [RCV000425861] |
Chr8:24955932 [GRCh38]
Chr8:24813446 [GRCh37]
Chr8:8p21.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006158.4(NEFL):c.1461G>A (p.Glu487=) |
single nucleotide variant |
not provided [RCV000866122]|not specified [RCV000436338] |
Chr8:24953504 [GRCh38]
Chr8:24811017 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.1011G>A (p.Glu337=) |
single nucleotide variant |
not provided [RCV000868473]|not specified [RCV000433878] |
Chr8:24955505 [GRCh38]
Chr8:24813019 [GRCh37]
Chr8:8p21.2 |
likely benign |
| GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 |
copy number gain |
See cases [RCV000447909] |
Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1 |
pathogenic |
| GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 |
copy number gain |
See cases [RCV000447913] |
Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) |
copy number gain |
See cases [RCV000448582] |
Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12 |
pathogenic |
| NM_006158.4(NEFL):c.882C>A (p.Asn294Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000458831] |
Chr8:24955634 [GRCh38]
Chr8:24813148 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) |
indel |
Charcot-Marie-Tooth disease type 2E [RCV000474144] |
Chr8:24956435..24956438 [GRCh38]
Chr8:24813949..24813952 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000470770] |
Chr8:24954281 [GRCh38]
Chr8:24811795 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000456780] |
Chr8:24955510 [GRCh38]
Chr8:24813024 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000460408] |
Chr8:24955695 [GRCh38]
Chr8:24813209 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.984G>T (p.Ala328=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000457056] |
Chr8:24955532 [GRCh38]
Chr8:24813046 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.688G>A (p.Glu230Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000465280] |
Chr8:24955828 [GRCh38]
Chr8:24813342 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.207G>A (p.Glu69=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000466117] |
Chr8:24956309 [GRCh38]
Chr8:24813823 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000473439] |
Chr8:24952929 [GRCh38]
Chr8:24810442 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.579G>A (p.Met193Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000466337]|not provided [RCV000999003] |
Chr8:24955937 [GRCh38]
Chr8:24813451 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 |
copy number loss |
not provided [RCV000509389] |
Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12 |
not provided |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 |
copy number gain |
See cases [RCV000510571] |
Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12 |
pathogenic |
| NM_006158.4(NEFL):c.1392G>A (p.Glu464=) |
single nucleotide variant |
not specified [RCV000505893] |
Chr8:24953573 [GRCh38]
Chr8:24811087 [GRCh37]
Chr8:8p21.2 |
likely benign |
| GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 |
copy number gain |
See cases [RCV000511028] |
Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 |
copy number gain |
See cases [RCV000510899] |
Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_006158.4(NEFL):c.1080C>T (p.Thr360=) |
single nucleotide variant |
not provided [RCV000868942]|not specified [RCV000600143] |
Chr8:24954270 [GRCh38]
Chr8:24811784 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000559816] |
Chr8:24955533 [GRCh38]
Chr8:24813047 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.243C>A (p.Asn81Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000541480] |
Chr8:24956273 [GRCh38]
Chr8:24813787 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640657] |
Chr8:24955755 [GRCh38]
Chr8:24813269 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857188]|Charcot-Marie-Tooth disease type 2E [RCV000640661] |
Chr8:24953503 [GRCh38]
Chr8:24811016 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.352C>T (p.Leu118=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640673] |
Chr8:24956164 [GRCh38]
Chr8:24813678 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.1284G>A (p.Gln428=) |
single nucleotide variant |
not specified [RCV000609903] |
Chr8:24953681 [GRCh38]
Chr8:24811195 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640662] |
Chr8:24953625 [GRCh38]
Chr8:24811139 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1482G>A (p.Glu494=) |
single nucleotide variant |
not specified [RCV000608427] |
Chr8:24953483 [GRCh38]
Chr8:24810996 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.146C>T (p.Ser49Phe) |
single nucleotide variant |
not provided [RCV000512683] |
Chr8:24956370 [GRCh38]
Chr8:24813884 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1175T>A (p.Leu392His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640658] |
Chr8:24953790 [GRCh38]
Chr8:24811304 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.217C>G (p.Leu73Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000640665] |
Chr8:24956299 [GRCh38]
Chr8:24813813 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000547572]|not provided [RCV000513137] |
Chr8:24953536 [GRCh38]
Chr8:24811049 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| NM_006158.4(NEFL):c.1195C>T (p.Arg399Ter) |
single nucleotide variant |
not provided [RCV000513356] |
Chr8:24953770 [GRCh38]
Chr8:24811284 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| NM_006158.4(NEFL):c.353T>G (p.Leu118Arg) |
single nucleotide variant |
not provided [RCV000659102] |
Chr8:24956163 [GRCh38]
Chr8:24813677 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.22C>T (p.Pro8Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000699633] |
Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 |
copy number gain |
not provided [RCV000683041] |
Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2 |
pathogenic |
| GRCh37/hg19 8p21.2(chr8:24314161-24933369)x3 |
copy number gain |
not provided [RCV000682989] |
Chr8:24314161..24933369 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 |
copy number gain |
not provided [RCV000683043] |
Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12 |
pathogenic |
| NM_006158.4(NEFL):c.608C>T (p.Ala203Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000686994] |
Chr8:24955908 [GRCh38]
Chr8:24813422 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1154A>T (p.Glu385Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000688530] |
Chr8:24954196 [GRCh38]
Chr8:24811710 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.418G>A (p.Glu140Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000688624] |
Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.67C>G (p.Arg23Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000690223] |
Chr8:24956449 [GRCh38]
Chr8:24813963 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000688199] |
Chr8:24955986 [GRCh38]
Chr8:24813500 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.202C>G (p.Leu68Val) |
single nucleotide variant |
not provided [RCV000712411] |
Chr8:24956314 [GRCh38]
Chr8:24813828 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.58G>A (p.Glu20Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000703212] |
Chr8:24956458 [GRCh38]
Chr8:24813972 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000703803] |
Chr8:24955848 [GRCh38]
Chr8:24813362 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000692547] |
Chr8:24953632 [GRCh38]
Chr8:24811146 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1044+5G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000697991] |
Chr8:24955467 [GRCh38]
Chr8:24812981 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.755C>T (p.Pro252Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000689664] |
Chr8:24955761 [GRCh38]
Chr8:24813275 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.490C>G (p.Arg164Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000688987]|not provided [RCV000992440] |
Chr8:24956026 [GRCh38]
Chr8:24813540 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.289C>A (p.Leu97Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000697171] |
Chr8:24956227 [GRCh38]
Chr8:24813741 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p21.2(chr8:24677490-25061807)x3 |
copy number gain |
not provided [RCV000747481] |
Chr8:24677490..25061807 [GRCh37]
Chr8:8p21.2 |
benign |
| NC_000008.11:g.24953551del |
deletion |
Charcot-Marie-Tooth disease [RCV000857189]|Distal spinal muscular atrophy [RCV000857190] |
Chr8:24953551 [GRCh38]
Chr8:24811064 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.11:g.24953635T>G |
single nucleotide variant |
Autosomal dominant distal hereditary motor neuropathy [RCV000857194]|Charcot-Marie-Tooth disease [RCV000857192]|Charcot-Marie-Tooth disease, type I [RCV000857193] |
Chr8:24953635 [GRCh38]
Chr8:24811149 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.11:g.24955618C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000857199] |
Chr8:24955618 [GRCh38]
Chr8:24813132 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.11:g.24956236G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857202] |
Chr8:24956236 [GRCh38]
Chr8:24813750 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1585A>G (p.Lys529Glu) |
single nucleotide variant |
not provided [RCV000762500] |
Chr8:24952857 [GRCh38]
Chr8:24810370 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1267G>C (p.Ala423Pro) |
single nucleotide variant |
not provided [RCV000762501] |
Chr8:24953698 [GRCh38]
Chr8:24811212 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1131C>T (p.Asn377=) |
single nucleotide variant |
not provided [RCV000762502] |
Chr8:24954219 [GRCh38]
Chr8:24811733 [GRCh37]
Chr8:8p21.2 |
likely benign |
| GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 |
copy number gain |
not provided [RCV000762735] |
Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12 |
likely pathogenic |
| NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) |
single nucleotide variant |
not provided [RCV000992441] |
Chr8:24955651 [GRCh38]
Chr8:24813165 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| NM_006158.5(NEFL):c.360C>T (p.Ala120=) |
single nucleotide variant |
not provided [RCV000936579] |
Chr8:24956156 [GRCh38]
Chr8:24813670 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.36C>T (p.Thr12=) |
single nucleotide variant |
not provided [RCV000868578] |
Chr8:24956480 [GRCh38]
Chr8:24813994 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.492C>G (p.Arg164=) |
single nucleotide variant |
not provided [RCV000925068] |
Chr8:24956024 [GRCh38]
Chr8:24813538 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.443T>A (p.Leu148Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000809813] |
Chr8:24956073 [GRCh38]
Chr8:24813587 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup) |
duplication |
Charcot-Marie-Tooth disease type 2E [RCV000806705] |
Chr8:24955502..24955503 [GRCh38]
Chr8:24813016..24813017 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.5(NEFL):c.816C>T (p.Asn272=) |
single nucleotide variant |
not provided [RCV000933160] |
Chr8:24955700 [GRCh38]
Chr8:24813214 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NC_000008.11:g.24953557del |
deletion |
Charcot-Marie-Tooth disease [RCV000857191] |
Chr8:24953552 [GRCh38]
Chr8:24811065 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.11:g.24953729G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857195] |
Chr8:24953729 [GRCh38]
Chr8:24811243 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.11:g.24954178C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857197] |
Chr8:24954178 [GRCh38]
Chr8:24811692 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.598G>C (p.Asp200His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000793148] |
Chr8:24955918 [GRCh38]
Chr8:24813432 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000801161] |
Chr8:24955773 [GRCh38]
Chr8:24813287 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) |
single nucleotide variant |
not provided [RCV000828359] |
Chr8:24956007 [GRCh38]
Chr8:24813521 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.1302G>A (p.Met434Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000798685] |
Chr8:24953663 [GRCh38]
Chr8:24811177 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000811127] |
Chr8:24955500 [GRCh38]
Chr8:24813014 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.808G>T (p.Ala270Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000814107] |
Chr8:24955708 [GRCh38]
Chr8:24813222 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000807556] |
Chr8:24952902 [GRCh38]
Chr8:24810415 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.10:g.(?_24810313)_(24814039_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2E [RCV000801973] |
Chr8:24810313..24814039 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.-176C>A |
single nucleotide variant |
not provided [RCV000829710] |
Chr8:24956691 [GRCh38]
Chr8:24814205 [GRCh37]
Chr8:8p21.2 |
benign |
| NC_000008.11:g.24956889T>C |
single nucleotide variant |
not provided [RCV000826278] |
Chr8:24956889 [GRCh38]
Chr8:24814403 [GRCh37]
Chr8:8p21.2 |
benign |
| NC_000008.10:g.(?_24810303)_(24814049_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2E [RCV000808637] |
Chr8:24810303..24814049 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1044+46G>A |
single nucleotide variant |
not provided [RCV000833529] |
Chr8:24955426 [GRCh38]
Chr8:24812940 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.637A>G (p.Ile213Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000800798] |
Chr8:24955879 [GRCh38]
Chr8:24813393 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000799169] |
Chr8:24956101 [GRCh38]
Chr8:24813615 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.192G>A (p.Leu64=) |
single nucleotide variant |
not specified [RCV000790246] |
Chr8:24956324 [GRCh38]
Chr8:24813838 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.1044+39G>C |
single nucleotide variant |
not provided [RCV000835480] |
Chr8:24955433 [GRCh38]
Chr8:24812947 [GRCh37]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.1213G>A (p.Val405Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000800874] |
Chr8:24953752 [GRCh38]
Chr8:24811266 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000813772] |
Chr8:24955984 [GRCh38]
Chr8:24813498 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) |
indel |
Charcot-Marie-Tooth disease type 2E [RCV000820944] |
Chr8:24953525..24953527 [GRCh38]
Chr8:24811038..24811040 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1 |
copy number loss |
not provided [RCV000847303] |
Chr8:23501519..24907990 [GRCh37]
Chr8:8p21.2 |
pathogenic |
| NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000792253] |
Chr8:24952908 [GRCh38]
Chr8:24810421 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000806836] |
Chr8:24953673 [GRCh38]
Chr8:24811187 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1032C>G (p.Ile344Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000822054] |
Chr8:24955484 [GRCh38]
Chr8:24812998 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=) |
variation |
not provided [RCV000860129] |
Chr8:24953551..24953552 [GRCh38]
Chr8:8p21.2 |
benign |
| NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000822636] |
Chr8:24953769 [GRCh38]
Chr8:24811283 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000808122] |
Chr8:24952914 [GRCh38]
Chr8:24810427 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1395A>G (p.Glu465=) |
single nucleotide variant |
not provided [RCV000841552] |
Chr8:24953570 [GRCh38]
Chr8:24811084 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.528G>A (p.Ala176=) |
single nucleotide variant |
not provided [RCV000875097] |
Chr8:24955988 [GRCh38]
Chr8:24813502 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.1185C>G (p.Gly395=) |
single nucleotide variant |
not provided [RCV000875128] |
Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.4(NEFL):c.677T>C (p.Val226Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000797873] |
Chr8:24955839 [GRCh38]
Chr8:24813353 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.4(NEFL):c.1044G>A (p.Gln348=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2E [RCV000812095] |
Chr8:24955472 [GRCh38]
Chr8:24812986 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NC_000008.11:g.24955479G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857198] |
Chr8:24955479 [GRCh38]
Chr8:24812993 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.5(NEFL):c.729C>A (p.Ile243=) |
single nucleotide variant |
not provided [RCV000937144] |
Chr8:24955787 [GRCh38]
Chr8:24813301 [GRCh37]
Chr8:8p21.2 |
likely benign |
| GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 |
copy number loss |
not provided [RCV000847074] |
Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000850076] |
Chr8:24955679 [GRCh38]
Chr8:24813193 [GRCh37]
Chr8:8p21.2 |
likely pathogenic |
| NM_006158.5(NEFL):c.1104C>T (p.Tyr368=) |
single nucleotide variant |
not provided [RCV000999002] |
Chr8:24954246 [GRCh38]
Chr8:24811760 [GRCh37]
Chr8:8p21.2 |
uncertain significance |
| NM_006158.5(NEFL):c.390C>T (p.Ser130=) |
single nucleotide variant |
not provided [RCV000929786] |
Chr8:24956126 [GRCh38]
Chr8:24813640 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.30C>T (p.Tyr10=) |
single nucleotide variant |
not provided [RCV000975552] |
Chr8:24956486 [GRCh38]
Chr8:24814000 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.873C>T (p.Ala291=) |
single nucleotide variant |
not provided [RCV000863574] |
Chr8:24955643 [GRCh38]
Chr8:24813157 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.1578G>A (p.Glu526=) |
single nucleotide variant |
not provided [RCV000920372] |
Chr8:24952864 [GRCh38]
Chr8:24810377 [GRCh37]
Chr8:8p21.2 |
likely benign |
| NM_006158.5(NEFL):c.420G>A (p.Glu140=) |
single nucleotide variant |
not provided [RCV000934061] |
Chr8:24956096 [GRCh38]
Chr8:24813610 [GRCh37]
Chr8:8p21.2 |
likely benign |
Gene-Chemical Interaction Annotations
