| NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000543493] |
Chr8:74350567 [GRCh38]
Chr8:75262802 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000548872] |
Chr8:74350466 [GRCh38]
Chr8:75262701 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.862dup (p.Thr288fs) |
duplication |
Neuropathy, axonal, with vocal cord paresis, autosomal recessive [RCV000004414] |
Chr8:74364147..74364148 [GRCh38]
Chr8:75276382..75276383 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| GDAP1, 1-BP INS, 349T |
insertion |
Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004416] |
Chr8:8q13-q21.1 |
pathogenic |
| GDAP1, IVS4DS, G-A, +1 |
single nucleotide variant |
Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004417] |
Chr8:8q13-q21.1 |
pathogenic |
| NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000547233] |
Chr8:74360164 [GRCh38]
Chr8:75272399 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000526351] |
Chr8:74364044 [GRCh38]
Chr8:75276279 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.72T>C (p.Val24=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000548062] |
Chr8:74350533 [GRCh38]
Chr8:75262768 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000545921] |
Chr8:74360211 [GRCh38]
Chr8:75272446 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789782]|not provided [RCV000519479] |
Chr8:74364219 [GRCh38]
Chr8:75276454 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000542442] |
Chr8:74363993 [GRCh38]
Chr8:75276228 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a [RCV000004409]|Charcot-Marie-Tooth disease, type 4A [RCV000004409] |
Chr8:74350553 [GRCh38]
Chr8:75262788 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000004411]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000023562]|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a [RCV000004410]|Charcot-Marie-Tooth disease, type 4A [RCV000004410]|not provided [RCV000760312] |
Chr8:74362940 [GRCh38]
Chr8:75275175 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.482G>A (p.Arg161His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a [RCV000004412]|Charcot-Marie-Tooth disease, type 4A [RCV000004412] |
Chr8:74360308 [GRCh38]
Chr8:75272543 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857207]|Charcot-Marie-Tooth disease type 2K [RCV000763605]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000031963]|Charcot-Marie-Tooth disease, type 4A [RCV000204463]|Neuropathy, axonal, with vocal cord paresis, autosomal recessive [RCV000004413]|not provided [RCV000236485] |
Chr8:74361886 [GRCh38]
Chr8:75274121 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004415]|not provided [RCV000235864] |
Chr8:74364134 [GRCh38]
Chr8:75276369 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000192249]|Charcot-Marie-Tooth disease type 2K [RCV000004418]|Charcot-Marie-Tooth disease, type 4A [RCV000200521]|not provided [RCV000236074] |
Chr8:74360184 [GRCh38]
Chr8:75272419 [GRCh37]
Chr8:8q21.11 |
pathogenic|likely pathogenic |
| NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000004419]|Charcot-Marie-Tooth disease, type 4A [RCV000798174] |
Chr8:74360295 [GRCh38]
Chr8:75272530 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789780]|Charcot-Marie-Tooth disease type 2K [RCV000033147]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004420]|Charcot-Marie-Tooth disease, type 4A [RCV000034153]|Creatine phosphokinase, elevated serum [RCV000414821]|Elevated serum creatine phosphokinase [RCV000414821]|GDAP1-Related Disorders [RCV000779562]|Sensory neuropathy [RCV000414821]|not provided [RCV000439841] |
Chr8:74364005 [GRCh38]
Chr8:75276240 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000004421] |
Chr8:74363011 [GRCh38]
Chr8:75275246 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857208]|Charcot-Marie-Tooth disease type 2K [RCV000004422]|Charcot-Marie-Tooth disease, type 4A [RCV000703370]|not specified [RCV000214299] |
Chr8:74363051 [GRCh38]
Chr8:75275286 [GRCh37]
Chr8:8q21.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000004423] |
Chr8:74364009 [GRCh38]
Chr8:75276244 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000004424] |
Chr8:74363037 [GRCh38]
Chr8:75275272 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000043548] |
Chr8:74360293 [GRCh38]
Chr8:75272528 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.368A>G (p.His123Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857206]|Charcot-Marie-Tooth disease type 2K [RCV000043549]|Charcot-Marie-Tooth disease, type 4A [RCV000696667]|not provided [RCV000254797] |
Chr8:74360194 [GRCh38]
Chr8:75272429 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000043550] |
Chr8:74364111 [GRCh38]
Chr8:75276346 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789791]|Charcot-Marie-Tooth disease, type 4A [RCV000031962] |
Chr8:74360173 [GRCh38]
Chr8:75272408 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, recessive intermediate A [RCV000033148] |
Chr8:74364270 [GRCh38]
Chr8:75276505 [GRCh37]
Chr8:8q21.11 |
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 8q21.11-21.13(chr8:73519300-82655582)x1 |
copy number loss |
Abnormal facial shape [RCV000051117]|See cases [RCV000051117] |
Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13 |
pathogenic |
| GRCh38/hg38 8q21.11-21.13(chr8:73962355-74749460)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052786]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052786]|See cases [RCV000052786] |
Chr8:73962355..74749460 [GRCh38]
Chr8:74874590..75661695 [GRCh37]
Chr8:75037144..75824250 [NCBI36]
Chr8:8q21.11-21.13 |
uncertain significance |
| GRCh38/hg38 8q21.11(chr8:73962355-74444411)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052787]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052787]|See cases [RCV000052787] |
Chr8:73962355..74444411 [GRCh38]
Chr8:74874590..75356646 [GRCh37]
Chr8:75037144..75519201 [NCBI36]
Chr8:8q21.11 |
uncertain significance |
| GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 |
copy number gain |
Cleft palate, isolated [RCV000053653]|See cases [RCV000053653] |
Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13 |
pathogenic |
| GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|See cases [RCV000053654] |
Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13 |
pathogenic |
| GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053655]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053655]|See cases [RCV000053655] |
Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11 |
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 8q21.11-21.2(chr8:73879385-85611466)x1 |
copy number loss |
Global developmental delay [RCV000054259]|See cases [RCV000054259] |
Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2 |
pathogenic |
| NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter) |
single nucleotide variant |
not provided [RCV000171415] |
Chr8:74360198 [GRCh38]
Chr8:75272433 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu) |
single nucleotide variant |
not provided [RCV000171416] |
Chr8:74360257 [GRCh38]
Chr8:75272492 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857204]|Charcot-Marie-Tooth disease, type 4A [RCV000643967]|not provided [RCV000143823]|not specified [RCV000235853] |
Chr8:74351404 [GRCh38]
Chr8:75263639 [GRCh37]
Chr8:8q21.11 |
benign|uncertain significance |
| GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 |
copy number gain |
See cases [RCV000137050] |
Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1 |
pathogenic |
| GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 |
copy number gain |
See cases [RCV000138027] |
Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13 |
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 8q11.1-24.3(chr8:46031340-139285494)x3 |
copy number gain |
See cases [RCV000139539] |
Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3 |
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 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 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 |
| NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000198483] |
Chr8:74351325 [GRCh38]
Chr8:75263560 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000200426]|not provided [RCV000416100]|not specified [RCV000220463] |
Chr8:74361955 [GRCh38]
Chr8:75274190 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000661961]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000661962]|Charcot-Marie-Tooth disease, type 4A [RCV000201184]|not provided [RCV000760441] |
Chr8:74360199 [GRCh38]
Chr8:75272434 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.579+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789161]|Charcot-Marie-Tooth disease, type 4A [RCV000204949] |
Chr8:74361979 [GRCh38]
Chr8:75274214 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000230476] |
Chr8:74362973 [GRCh38]
Chr8:75275208 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000227499] |
Chr8:74364335 [GRCh38]
Chr8:75276570 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.694+5G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000234469] |
Chr8:74363058 [GRCh38]
Chr8:75275293 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.767A>G (p.His256Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789787]|Charcot-Marie-Tooth disease, type 4A [RCV000820420]|not provided [RCV000757324] |
Chr8:74364057 [GRCh38]
Chr8:75276292 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.310+6del |
deletion |
Charcot-Marie-Tooth disease, type 4A [RCV000531969]|Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000314404]|Charcot-Marie-Tooth, Intermediate [RCV000369024]|not provided [RCV000487806]|not specified [RCV000235258] |
Chr8:74351472 [GRCh38]
Chr8:75263707 [GRCh37]
Chr8:8q21.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789164]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000664207]|not provided [RCV000235362] |
Chr8:74364059 [GRCh38]
Chr8:75276294 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) |
single nucleotide variant |
not provided [RCV000236133] |
Chr8:74364108 [GRCh38]
Chr8:75276343 [GRCh37]
Chr8:8q21.11 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000474009]|not provided [RCV000767009]|not specified [RCV000236408] |
Chr8:74360225 [GRCh38]
Chr8:75272460 [GRCh37]
Chr8:8q21.11 |
likely pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000805046]|not specified [RCV000236743] |
Chr8:74360202 [GRCh38]
Chr8:75272437 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg) |
single nucleotide variant |
not specified [RCV000236574] |
Chr8:74350484 [GRCh38]
Chr8:75262719 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) |
single nucleotide variant |
not specified [RCV000237016] |
Chr8:74364275 [GRCh38]
Chr8:75276510 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.507T>G (p.Ser169=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000576842]|Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000325881]|Charcot-Marie-Tooth, Intermediate [RCV000380453]|not provided [RCV000860132]|not specified [RCV000251902] |
Chr8:74361906 [GRCh38]
Chr8:75274141 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000527122] |
Chr8:74363012 [GRCh38]
Chr8:75275247 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 |
copy number gain |
See cases [RCV000240367] |
Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13 |
likely pathogenic |
| NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789643]|Charcot-Marie-Tooth disease, type 4A [RCV000530141] |
Chr8:74364101 [GRCh38]
Chr8:75276336 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1855A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000283960]|Charcot-Marie-Tooth, Intermediate [RCV000378391] |
Chr8:74366222 [GRCh38]
Chr8:75278457 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.*1878G>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000320798]|Charcot-Marie-Tooth, Intermediate [RCV000375447] |
Chr8:74366245 [GRCh38]
Chr8:75278480 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.*2298A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000362914]|Charcot-Marie-Tooth, Intermediate [RCV000268216] |
Chr8:74366665 [GRCh38]
Chr8:75278900 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*830C>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000268688]|Charcot-Marie-Tooth, Intermediate [RCV000323750] |
Chr8:74365197 [GRCh38]
Chr8:75277432 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.*1489del |
deletion |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000400453]|Charcot-Marie-Tooth, Intermediate [RCV000302234] |
Chr8:74365856 [GRCh38]
Chr8:75278091 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*1430T>A |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000381574]|Charcot-Marie-Tooth, Intermediate [RCV000345687] |
Chr8:74365797 [GRCh38]
Chr8:75278032 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*357A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000285881]|Charcot-Marie-Tooth, Intermediate [RCV000322193] |
Chr8:74364724 [GRCh38]
Chr8:75276959 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.*2408G>A |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000359440]|Charcot-Marie-Tooth, Intermediate [RCV000323429] |
Chr8:74366775 [GRCh38]
Chr8:75279010 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.485-6T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000270724]|Charcot-Marie-Tooth, Intermediate [RCV000365360]|not provided [RCV000871199] |
Chr8:74361878 [GRCh38]
Chr8:75274113 [GRCh37]
Chr8:8q21.11 |
likely benign|uncertain significance |
| NM_018972.4(GDAP1):c.*1437A>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000287231]|Charcot-Marie-Tooth, Intermediate [RCV000342245] |
Chr8:74365804 [GRCh38]
Chr8:75278039 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*931A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000386056]|Charcot-Marie-Tooth, Intermediate [RCV000350163] |
Chr8:74365298 [GRCh38]
Chr8:75277533 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1647C>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000367103]|Charcot-Marie-Tooth, Intermediate [RCV000272511] |
Chr8:74366014 [GRCh38]
Chr8:75278249 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*1701T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000327622]|Charcot-Marie-Tooth, Intermediate [RCV000382230] |
Chr8:74366068 [GRCh38]
Chr8:75278303 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*2214A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000391330]|Charcot-Marie-Tooth, Intermediate [RCV000308042] |
Chr8:74366581 [GRCh38]
Chr8:75278816 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.*797A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000309016]|Charcot-Marie-Tooth, Intermediate [RCV000363745] |
Chr8:74365164 [GRCh38]
Chr8:75277399 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000329445]|Charcot-Marie-Tooth, Intermediate [RCV000274355] |
Chr8:74360200 [GRCh38]
Chr8:75272435 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1429A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000385154]|Charcot-Marie-Tooth, Intermediate [RCV000290889] |
Chr8:74365796 [GRCh38]
Chr8:75278031 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*934_*935insTA |
insertion |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000291607]|Charcot-Marie-Tooth, Intermediate [RCV000346488] |
Chr8:74365301..74365302 [GRCh38]
Chr8:75277536..75277537 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1173G>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000259272]|Charcot-Marie-Tooth, Intermediate [RCV000355071] |
Chr8:74365540 [GRCh38]
Chr8:75277775 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*1416G>A |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000330743]|Charcot-Marie-Tooth, Intermediate [RCV000275608] |
Chr8:74365783 [GRCh38]
Chr8:75278018 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*2210C>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000366263]|Charcot-Marie-Tooth, Intermediate [RCV000311591] |
Chr8:74366577 [GRCh38]
Chr8:75278812 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1639A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000314066]|Charcot-Marie-Tooth, Intermediate [RCV000277735] |
Chr8:74366006 [GRCh38]
Chr8:75278241 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1976C>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000400872]|Charcot-Marie-Tooth, Intermediate [RCV000296004] |
Chr8:74366343 [GRCh38]
Chr8:75278578 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*561C>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000402287]|Charcot-Marie-Tooth, Intermediate [RCV000337465] |
Chr8:74364928 [GRCh38]
Chr8:75277163 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*1162T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000263687]|Charcot-Marie-Tooth, Intermediate [RCV000300174] |
Chr8:74365529 [GRCh38]
Chr8:75277764 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*2463A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000319994]|Charcot-Marie-Tooth, Intermediate [RCV000264822] |
Chr8:74366830 [GRCh38]
Chr8:75279065 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*873T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000280749]|Charcot-Marie-Tooth, Intermediate [RCV000317101] |
Chr8:74365240 [GRCh38]
Chr8:75277475 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*858G>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000265675]|Charcot-Marie-Tooth, Intermediate [RCV000360347] |
Chr8:74365225 [GRCh38]
Chr8:75277460 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*444A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000282172]|Charcot-Marie-Tooth, Intermediate [RCV000376870] |
Chr8:74364811 [GRCh38]
Chr8:75277046 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1030T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000406749]|Charcot-Marie-Tooth, Intermediate [RCV000343141] |
Chr8:74365397 [GRCh38]
Chr8:75277632 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*751A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000367170]|Charcot-Marie-Tooth, Intermediate [RCV000391077] |
Chr8:74365118 [GRCh38]
Chr8:75277353 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1923C>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000335966]|Charcot-Marie-Tooth, Intermediate [RCV000280962] |
Chr8:74366290 [GRCh38]
Chr8:75278525 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.501del (p.Glu168fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789712]|not provided [RCV000366418] |
Chr8:74361900 [GRCh38]
Chr8:75274135 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_001362931.2(GDAP1):c.694+3867dup |
duplication |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000278185]|Charcot-Marie-Tooth, Intermediate [RCV000374648] |
Chr8:74366913..74366914 [GRCh38]
Chr8:75279148..75279149 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*618C>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000352487]|Charcot-Marie-Tooth, Intermediate [RCV000278782] |
Chr8:74364985 [GRCh38]
Chr8:75277220 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1779G>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000268766]|Charcot-Marie-Tooth, Intermediate [RCV000323822] |
Chr8:74366146 [GRCh38]
Chr8:75278381 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000643969]|Inborn genetic diseases [RCV000624091]|not provided [RCV000489068] |
Chr8:74350570 [GRCh38]
Chr8:75262805 [GRCh37]
Chr8:8q21.11 |
likely pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln) |
single nucleotide variant |
not specified [RCV000489350] |
Chr8:74361976 [GRCh38]
Chr8:75274211 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.90T>C (p.His30=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000555035]|not provided [RCV000711791] |
Chr8:74350551 [GRCh38]
Chr8:75262786 [GRCh37]
Chr8:8q21.11 |
benign|likely benign |
| NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000764780]|Charcot-Marie-Tooth disease, type 4A [RCV000554435] |
Chr8:74364296 [GRCh38]
Chr8:75276531 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_001362931.2(GDAP1):c.694+4059_694+4060dup |
duplication |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000390317]|Charcot-Marie-Tooth, Intermediate [RCV000344727] |
Chr8:74367098..74367099 [GRCh38]
Chr8:75279333..75279334 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_001362931.2(GDAP1):c.694+4044_694+4045insAAA |
insertion |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000292050]|Charcot-Marie-Tooth, Intermediate [RCV000397214] |
Chr8:74367097..74367098 [GRCh38]
Chr8:75279332..75279333 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1124G>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000358394]|Charcot-Marie-Tooth, Intermediate [RCV000303648] |
Chr8:74365491 [GRCh38]
Chr8:75277726 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_001362931.2(GDAP1):c.694+4057_694+4060dup |
duplication |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000361862]|Charcot-Marie-Tooth, Intermediate [RCV000304782] |
Chr8:74367098..74367099 [GRCh38]
Chr8:75279333..75279334 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_001362931.2(GDAP1):c.694+4037T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000316909]|Charcot-Marie-Tooth, Intermediate [RCV000387709] |
Chr8:74367090 [GRCh38]
Chr8:75279325 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1377C>T |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000333152]|Charcot-Marie-Tooth, Intermediate [RCV000387617] |
Chr8:74365744 [GRCh38]
Chr8:75277979 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_001362931.2(GDAP1):c.694+4044_694+4045insAA |
insertion |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000348293]|Charcot-Marie-Tooth, Intermediate [RCV000295650] |
Chr8:74367097..74367098 [GRCh38]
Chr8:75279332..75279333 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*961G>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000390241]|Charcot-Marie-Tooth, Intermediate [RCV000307079] |
Chr8:74365328 [GRCh38]
Chr8:75277563 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*864G>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000320696]|Charcot-Marie-Tooth, Intermediate [RCV000375339] |
Chr8:74365231 [GRCh38]
Chr8:75277466 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*2170A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000350951]|Charcot-Marie-Tooth, Intermediate [RCV000400609] |
Chr8:74366537 [GRCh38]
Chr8:75278772 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*898A>G |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000296076]|Charcot-Marie-Tooth, Intermediate [RCV000371838] |
Chr8:74365265 [GRCh38]
Chr8:75277500 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.-51_-49del |
deletion |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000391878]|Charcot-Marie-Tooth, Intermediate [RCV000370201] |
Chr8:74350410..74350412 [GRCh38]
Chr8:75262645..75262647 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.*1527G>A |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000399559]|Charcot-Marie-Tooth, Intermediate [RCV000338397] |
Chr8:74365894 [GRCh38]
Chr8:75278129 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*1570G>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000298839]|Charcot-Marie-Tooth, Intermediate [RCV000353739] |
Chr8:74365937 [GRCh38]
Chr8:75278172 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.*663T>C |
single nucleotide variant |
Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000390421]|Charcot-Marie-Tooth, Intermediate [RCV000312378] |
Chr8:74365030 [GRCh38]
Chr8:75277265 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.474A>G (p.Thr158=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000549677] |
Chr8:74360300 [GRCh38]
Chr8:75272535 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.695-9T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000690588]|not specified [RCV000523643] |
Chr8:74363976 [GRCh38]
Chr8:75276211 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000529356] |
Chr8:74364255 [GRCh38]
Chr8:75276490 [GRCh37]
Chr8:8q21.11 |
likely benign|uncertain significance |
| NC_000008.10:g.(?_74888497)_(75274233_?)dup |
duplication |
Charcot-Marie-Tooth disease, type 4A [RCV000815923] |
Chr8:73976262..74361998 [GRCh38]
Chr8:74888497..75274233 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) |
microsatellite |
Charcot-Marie-Tooth disease, type 4A [RCV000559806] |
Chr8:74361900..74361901 [GRCh38]
Chr8:75274135..75274136 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del |
deletion |
Charcot-Marie-Tooth disease, type 4A [RCV000735278] |
Chr8:8q21.11 |
pathogenic |
| 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_018972.4(GDAP1):c.161A>G (p.His54Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000553686] |
Chr8:74351317 [GRCh38]
Chr8:75263552 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.-20C>T |
single nucleotide variant |
not specified [RCV000418211] |
Chr8:74350442 [GRCh38]
Chr8:75262677 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.586C>G (p.Leu196Val) |
single nucleotide variant |
not specified [RCV000438424] |
Chr8:74362945 [GRCh38]
Chr8:75275180 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.485-20C>G |
single nucleotide variant |
not specified [RCV000429602] |
Chr8:74361864 [GRCh38]
Chr8:75274099 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.693A>T (p.Pro231=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000643968]|not specified [RCV000440113] |
Chr8:74363052 [GRCh38]
Chr8:75275287 [GRCh37]
Chr8:8q21.11 |
likely benign|uncertain significance |
| GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1 |
copy number loss |
See cases [RCV000445718] |
Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13 |
pathogenic |
| NM_018972.4(GDAP1):c.485-3C>T |
single nucleotide variant |
not specified [RCV000427093] |
Chr8:74361881 [GRCh38]
Chr8:75274116 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000465962] |
Chr8:74364000 [GRCh38]
Chr8:75276235 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.89A>T (p.His30Leu) |
single nucleotide variant |
not provided [RCV000482807] |
Chr8:74350550 [GRCh38]
Chr8:75262785 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.579del (p.Lys193fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789792]|Charcot-Marie-Tooth disease, type 4A [RCV000466389] |
Chr8:74361976 [GRCh38]
Chr8:75274211 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789054]|Charcot-Marie-Tooth disease, type 4A [RCV000471926] |
Chr8:74360284 [GRCh38]
Chr8:75272519 [GRCh37]
Chr8:8q21.11 |
likely pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.216C>T (p.Asn72=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000473461] |
Chr8:74351372 [GRCh38]
Chr8:75263607 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789145]|Charcot-Marie-Tooth disease, type 4A [RCV000473867]|Inborn genetic diseases [RCV000623049] |
Chr8:74364305..74364306 [GRCh38]
Chr8:75276540..75276541 [GRCh37]
Chr8:8q21.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.308A>T (p.Asp103Val) |
single nucleotide variant |
not provided [RCV000486366] |
Chr8:74351464 [GRCh38]
Chr8:75263699 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.786del (p.Phe263fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789157]|Charcot-Marie-Tooth disease, type 4A [RCV000456890]|not provided [RCV000479637] |
Chr8:74364073 [GRCh38]
Chr8:75276308 [GRCh37]
Chr8:8q21.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.311-1790_408del |
deletion |
Charcot-Marie-Tooth disease, type 4A [RCV000456790] |
Chr8:74358345..74360232 [GRCh38]
Chr8:75270580..75272467 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| 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 |
| NM_018972.4(GDAP1):c.536C>A (p.Pro179Gln) |
single nucleotide variant |
not specified [RCV000493828] |
Chr8:74361935 [GRCh38]
Chr8:75274170 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| 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_018972.4(GDAP1):c.33C>G (p.Ser11Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000557370]|not provided [RCV000658365] |
Chr8:74350494 [GRCh38]
Chr8:75262729 [GRCh37]
Chr8:8q21.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000540301] |
Chr8:74364130 [GRCh38]
Chr8:75276365 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000541075] |
Chr8:74364060 [GRCh38]
Chr8:75276295 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000556352] |
Chr8:74364066 [GRCh38]
Chr8:75276301 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.459G>A (p.Pro153=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000534935] |
Chr8:74360285 [GRCh38]
Chr8:75272520 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790267]|Charcot-Marie-Tooth disease, type 4A [RCV000643966] |
Chr8:74361970 [GRCh38]
Chr8:75274205 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.310+8del |
deletion |
Charcot-Marie-Tooth disease, type 4A [RCV000643972] |
Chr8:74351473 [GRCh38]
Chr8:75263708 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.225A>G (p.Gly75=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000643973] |
Chr8:74351381 [GRCh38]
Chr8:75263616 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.720C>T (p.Cys240=) |
single nucleotide variant |
not provided [RCV000869254]|not specified [RCV000615031] |
Chr8:74364010 [GRCh38]
Chr8:75276245 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.102C>G (p.Ser34=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000533311] |
Chr8:74350563 [GRCh38]
Chr8:75262798 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.744C>T (p.Asp248=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000534088] |
Chr8:74364034 [GRCh38]
Chr8:75276269 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000556624] |
Chr8:74360256 [GRCh38]
Chr8:75272491 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.117+12C>G |
single nucleotide variant |
not specified [RCV000607358] |
Chr8:74350590 [GRCh38]
Chr8:75262825 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000643965] |
Chr8:74364197 [GRCh38]
Chr8:75276432 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000643970]|not provided [RCV000762523] |
Chr8:74362979 [GRCh38]
Chr8:75275214 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000643971] |
Chr8:74351416 [GRCh38]
Chr8:75263651 [GRCh37]
Chr8:8q21.11 |
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_018972.4(GDAP1):c.405C>T (p.Ala135=) |
single nucleotide variant |
not provided [RCV000585163] |
Chr8:74360231 [GRCh38]
Chr8:75272466 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000686814] |
Chr8:74364075 [GRCh38]
Chr8:75276310 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_001362931.2(GDAP1):c.694+932_694+1314del |
deletion |
Charcot-Marie-Tooth disease, recessive intermediate A [RCV000664236] |
Chr8:74363982..74364364 [GRCh38]
Chr8:75276217..75276599 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| Single allele |
deletion |
Charcot-Marie-Tooth disease type 2K [RCV000678027] |
Chr8:73876981..74367518 [GRCh38]
Chr8:74789216..75279753 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000690452]|not provided [RCV000711792] |
Chr8:74364267 [GRCh38]
Chr8:75276502 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1 |
copy number loss |
not provided [RCV000683031] |
Chr8:74942333..80413867 [GRCh37]
Chr8:8q21.11-21.13 |
pathogenic |
| NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000687690] |
Chr8:74350547 [GRCh38]
Chr8:75262782 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4 [RCV000857203]|Charcot-Marie-Tooth disease, type 4A [RCV000690220] |
Chr8:74350573 [GRCh38]
Chr8:75262808 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000690550] |
Chr8:74364110 [GRCh38]
Chr8:75276345 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000695115] |
Chr8:74364327 [GRCh38]
Chr8:75276562 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000689392] |
Chr8:74351412 [GRCh38]
Chr8:75263647 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000707673] |
Chr8:74360245 [GRCh38]
Chr8:75272480 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.694+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000696394] |
Chr8:74363054 [GRCh38]
Chr8:75275289 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.845G>A (p.Arg282His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789687]|Charcot-Marie-Tooth disease, type 4A [RCV000697077] |
Chr8:74364135 [GRCh38]
Chr8:75276370 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| 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 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 8q21.11(chr8:75278457-75322485)x0 |
copy number loss |
not provided [RCV000747661] |
Chr8:75278457..75322485 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro) |
single nucleotide variant |
not provided [RCV000762524] |
Chr8:74364072 [GRCh38]
Chr8:75276307 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.706C>A (p.Gln236Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000857209] |
Chr8:74363996 [GRCh38]
Chr8:75276231 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857210] |
Chr8:74364209 [GRCh38]
Chr8:75276444 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.21G>A (p.Glu7=) |
single nucleotide variant |
not provided [RCV000868553] |
Chr8:74350482 [GRCh38]
Chr8:75262717 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.120G>A (p.Val40=) |
single nucleotide variant |
not provided [RCV000866949] |
Chr8:74351276 [GRCh38]
Chr8:75263511 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.165T>C (p.Asp55=) |
single nucleotide variant |
not provided [RCV000923831] |
Chr8:74351321 [GRCh38]
Chr8:75263556 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.385G>C (p.Asp129His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789151] |
Chr8:74360211 [GRCh38]
Chr8:75272446 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789158] |
Chr8:74360271 [GRCh38]
Chr8:75272506 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789160] |
Chr8:74350578 [GRCh38]
Chr8:75262813 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789166] |
Chr8:74364321 [GRCh38]
Chr8:75276556 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789641] |
Chr8:74360215 [GRCh38]
Chr8:75272450 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.116del (p.Lys39fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789711]|Charcot-Marie-Tooth disease, type 4A [RCV000814937] |
Chr8:74350574 [GRCh38]
Chr8:75262809 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) |
indel |
Charcot-Marie-Tooth disease [RCV000789781] |
Chr8:74351330..74351332 [GRCh38]
Chr8:75263565..75263567 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790313] |
Chr8:74364181 [GRCh38]
Chr8:75276416 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.543A>G (p.Leu181=) |
single nucleotide variant |
not provided [RCV000874471] |
Chr8:74361942 [GRCh38]
Chr8:75274177 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.102= (p.Ser34=) |
variation |
not provided [RCV000860131] |
Chr8:74350563 [GRCh38]
Chr8:75262798 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.2(GDAP1):c.347T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789147] |
Chr8:74360173 [GRCh38]
Chr8:75272408 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NC_000008.11:g.74350301G>T |
single nucleotide variant |
not provided [RCV000841127] |
Chr8:74350301 [GRCh38]
Chr8:75262536 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.310+243_310+244del |
deletion |
not provided [RCV000841129] |
Chr8:74351709..74351710 [GRCh38]
Chr8:75263944..75263945 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.311-85T>C |
single nucleotide variant |
not provided [RCV000841134] |
Chr8:74360052 [GRCh38]
Chr8:75272287 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.695-293C>T |
single nucleotide variant |
not provided [RCV000827699] |
Chr8:74363692 [GRCh38]
Chr8:75275927 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000813857] |
Chr8:74361922 [GRCh38]
Chr8:75274157 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.580-279G>C |
single nucleotide variant |
not provided [RCV000832243] |
Chr8:74362660 [GRCh38]
Chr8:75274895 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.117+28G>A |
single nucleotide variant |
not provided [RCV000829683] |
Chr8:74350606 [GRCh38]
Chr8:75262841 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.310+229G>A |
single nucleotide variant |
not provided [RCV000836518] |
Chr8:74351695 [GRCh38]
Chr8:75263930 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000824527] |
Chr8:74360219 [GRCh38]
Chr8:75272454 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.931G>A (p.Val311Met) |
single nucleotide variant |
not provided [RCV000992075] |
Chr8:74364221 [GRCh38]
Chr8:75276456 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.485-57T>A |
single nucleotide variant |
not provided [RCV000829697] |
Chr8:74361827 [GRCh38]
Chr8:75274062 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.485-238C>A |
single nucleotide variant |
not provided [RCV000836820] |
Chr8:74361646 [GRCh38]
Chr8:75273881 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000820275] |
Chr8:74360185 [GRCh38]
Chr8:75272420 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.480T>A (p.Ile160=) |
single nucleotide variant |
not provided [RCV000827052] |
Chr8:74360306 [GRCh38]
Chr8:75272541 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000820419] |
Chr8:74363030 [GRCh38]
Chr8:75275265 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789148] |
Chr8:74364107 [GRCh38]
Chr8:75276342 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789149] |
Chr8:74363023 [GRCh38]
Chr8:75275258 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789676] |
Chr8:74361932 [GRCh38]
Chr8:75274167 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.928del (p.Arg310fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789793] |
Chr8:74364217 [GRCh38]
Chr8:75276452 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790314] |
Chr8:74363038 [GRCh38]
Chr8:75275273 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.439del (p.Thr147fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789146] |
Chr8:74360264 [GRCh38]
Chr8:75272499 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789155] |
Chr8:74363015 [GRCh38]
Chr8:75275250 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) |
indel |
Charcot-Marie-Tooth disease [RCV000789163] |
Chr8:74351328..74351329 [GRCh38]
Chr8:75263563..75263564 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789779] |
Chr8:74364030 [GRCh38]
Chr8:75276265 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789784] |
Chr8:74351389 [GRCh38]
Chr8:75263624 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789785] |
Chr8:74363036 [GRCh38]
Chr8:75275271 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789790] |
Chr8:74363027 [GRCh38]
Chr8:75275262 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.332C>A (p.Pro111His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789786] |
Chr8:74360158 [GRCh38]
Chr8:75272393 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.485-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789789] |
Chr8:74361882 [GRCh38]
Chr8:75274117 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000824137] |
Chr8:74361925 [GRCh38]
Chr8:75274160 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys) |
single nucleotide variant |
not provided [RCV000992074] |
Chr8:74351443 [GRCh38]
Chr8:75263678 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.118-87G>A |
single nucleotide variant |
not provided [RCV000836819] |
Chr8:74351187 [GRCh38]
Chr8:75263422 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000795045] |
Chr8:74363039 [GRCh38]
Chr8:75275274 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.694+24C>T |
single nucleotide variant |
not provided [RCV000829684] |
Chr8:74363077 [GRCh38]
Chr8:75275312 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.674_676GAA[1] (p.Arg226del) |
microsatellite |
Charcot-Marie-Tooth disease, type 4A [RCV000988074] |
Chr8:74363031..74363033 [GRCh38]
Chr8:75275266..75275268 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2K [RCV000985190] |
Chr8:74364207 [GRCh38]
Chr8:75276442 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.311-1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789640] |
Chr8:74360136 [GRCh38]
Chr8:75272371 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs) |
microsatellite |
Charcot-Marie-Tooth disease [RCV000789642] |
Chr8:74360163..74360166 [GRCh38]
Chr8:75272398..75272401 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.100dup (p.Ser34fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789794] |
Chr8:74350559..74350560 [GRCh38]
Chr8:75262794..75262795 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000812267] |
Chr8:74364011 [GRCh38]
Chr8:75276246 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000818255] |
Chr8:74361973 [GRCh38]
Chr8:75274208 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000818644] |
Chr8:74364129 [GRCh38]
Chr8:75276364 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.695-309C>T |
single nucleotide variant |
not provided [RCV000828877] |
Chr8:74363676 [GRCh38]
Chr8:75275911 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.484+182C>A |
single nucleotide variant |
not provided [RCV000841135] |
Chr8:74360492 [GRCh38]
Chr8:75272727 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.485-186A>G |
single nucleotide variant |
not provided [RCV000841136] |
Chr8:74361698 [GRCh38]
Chr8:75273933 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.579+119_579+120del |
deletion |
not provided [RCV000841154] |
Chr8:74362097..74362098 [GRCh38]
Chr8:75274332..75274333 [GRCh37]
Chr8:8q21.11 |
benign |
| NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789150] |
Chr8:74360184 [GRCh38]
Chr8:75272419 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789152] |
Chr8:74363037 [GRCh38]
Chr8:75275272 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789154] |
Chr8:74360190 [GRCh38]
Chr8:75272425 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789162]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004416] |
Chr8:74360174..74360175 [GRCh38]
Chr8:75272409..75272410 [GRCh37]
Chr8:8q21.11 |
pathogenic|uncertain significance |
| NM_018972.4(GDAP1):c.558del (p.Ile186fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789167] |
Chr8:74361956 [GRCh38]
Chr8:75274191 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.864dup (p.Phe289fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789644] |
Chr8:74364153..74364154 [GRCh38]
Chr8:75276388..75276389 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789783] |
Chr8:74360185 [GRCh38]
Chr8:75272420 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789153] |
Chr8:74360258..74360262 [GRCh38]
Chr8:75272493..75272497 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.310+3A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789165] |
Chr8:74351469 [GRCh38]
Chr8:75263704 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) |
deletion |
Charcot-Marie-Tooth disease [RCV000789168] |
Chr8:74364130 [GRCh38]
Chr8:75276365 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789675] |
Chr8:74363015 [GRCh38]
Chr8:75275250 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789710] |
Chr8:74350462 [GRCh38]
Chr8:75262697 [GRCh37]
Chr8:8q21.11 |
pathogenic |
| NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789788] |
Chr8:74350562 [GRCh38]
Chr8:75262797 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000816489] |
Chr8:74364260 [GRCh38]
Chr8:75276495 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000811675] |
Chr8:74364194 [GRCh38]
Chr8:75276429 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000797872] |
Chr8:74351403 [GRCh38]
Chr8:75263638 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.118-3C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000817745] |
Chr8:74351271 [GRCh38]
Chr8:75263506 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789156] |
Chr8:74351451 [GRCh38]
Chr8:75263686 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789159] |
Chr8:74364126 [GRCh38]
Chr8:75276361 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.118-3del |
deletion |
not provided [RCV000999044] |
Chr8:74351270 [GRCh38]
Chr8:75263505 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.298A>G (p.Thr100Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000857205] |
Chr8:74351454 [GRCh38]
Chr8:75263689 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3 |
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_018972.4(GDAP1):c.943A>G (p.Arg315Gly) |
single nucleotide variant |
not provided [RCV000999046] |
Chr8:74364233 [GRCh38]
Chr8:75276468 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 4A [RCV000988073] |
Chr8:74360181 [GRCh38]
Chr8:75272416 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.117+10G>A |
single nucleotide variant |
not provided [RCV000865867] |
Chr8:74350588 [GRCh38]
Chr8:75262823 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857211] |
Chr8:74364356 [GRCh38]
Chr8:75276591 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
| NM_018972.4(GDAP1):c.810C>T (p.Asn270=) |
single nucleotide variant |
not provided [RCV000869288] |
Chr8:74364100 [GRCh38]
Chr8:75276335 [GRCh37]
Chr8:8q21.11 |
likely benign |
| NM_018972.4(GDAP1):c.116A>G (p.Lys39Arg) |
single nucleotide variant |
not provided [RCV000992073] |
Chr8:74350577 [GRCh38]
Chr8:75262812 [GRCh37]
Chr8:8q21.11 |
likely pathogenic |
| NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr) |
single nucleotide variant |
not provided [RCV000999045] |
Chr8:74360215 [GRCh38]
Chr8:75272450 [GRCh37]
Chr8:8q21.11 |
uncertain significance |
Gene-Chemical Interaction Annotations
