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Links from MedGen

Items: 1 to 100 of 287

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:75263635-75263645
GRCh38:
Chr8:74351400-74351410
GDAP1G83fs, G15fsCharcot-Marie-Tooth disease type 4ALikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr8:75263508
GRCh38:
Chr8:74351273
GDAP1Charcot-Marie-Tooth disease type 4ALikely pathogenic
(Aug 30, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr8:75262697
GRCh38:
Chr8:74350462
GDAP1, LOC130000622M1VCharcot-Marie-Tooth disease type 4APathogenic
(Jul 22, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr8:75272448
GRCh38:
Chr8:74360213
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(May 30, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr8:75276239
GRCh38:
Chr8:74364004
GDAP1W180*, W238*, W170*, W129*Charcot-Marie-Tooth disease type 4APathogenic
(Aug 23, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr8:75276200
GRCh38:
Chr8:74363965
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Oct 24, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr8:75276491
GRCh38:
Chr8:74364256
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Feb 21, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr8:75262773
GRCh38:
Chr8:74350538
GDAP1, LOC130000622L26PCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr8:75276476
GRCh38:
Chr8:74364241
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jul 15, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr8:75276201
GRCh38:
Chr8:74363966
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 13, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr8:75262832
GRCh38:
Chr8:74350597
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4ALikely benign
(May 10, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr8:75276438
GRCh38:
Chr8:74364203
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 28, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr8:75276500
GRCh38:
Chr8:74364265
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Apr 18, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr8:75262792
GRCh38:
Chr8:74350557
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 14, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr8:75272549-75272550
GRCh38:
Chr8:74360314-74360315
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 15, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr8:75263500
GRCh38:
Chr8:74351265
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Oct 28, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr8:75274182
GRCh38:
Chr8:74361947
GDAP1A116fs, A126fs, A75fs, A184fsCharcot-Marie-Tooth disease type 4APathogenic
(Feb 19, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr8:75272428
GRCh38:
Chr8:74360193
GDAP1H14fs, H55fs, H123fsCharcot-Marie-Tooth disease type 4APathogenic
(Jan 23, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr8:75263629
GRCh38:
Chr8:74351394
GDAP1L12F, L80FCharcot-Marie-Tooth disease type 4AUncertain significance
(Sep 11, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr8:75263648
GRCh38:
Chr8:74351413
GDAP1I86K, I18KInborn genetic diseases, Charcot-Marie-Tooth disease type 4AUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr8:75272564
GRCh38:
Chr8:74360329
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Feb 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr8:75272517
GRCh38:
Chr8:74360282
GDAP1I84M, I43M, I152MCharcot-Marie-Tooth disease type 4AUncertain significance
(Dec 22, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr8:75276446
GRCh38:
Chr8:74364211
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 25, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr8:75272517
GRCh38:
Chr8:74360282
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jul 19, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr8:75276458
GRCh38:
Chr8:74364223
GDAP1A244fs, A254fs, A203fs, A312fsCharcot-Marie-Tooth disease type 4APathogenic
(Sep 4, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr8:75275296
GRCh38:
Chr8:74363061
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jul 29, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr8:75262816
GRCh38:
Chr8:74350581
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4AUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr8:75263501
GRCh38:
Chr8:74351266
GDAP1Charcot-Marie-Tooth disease type 4AUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr8:75272548
GRCh38:
Chr8:74360313
GDAP1Charcot-Marie-Tooth disease type 4AUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr8:75276382
GRCh38:
Chr8:74364147
GDAP1R228T, R218T, R177T, R286TCharcot-Marie-Tooth disease type 4AUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr8:75263569
GRCh38:
Chr8:74351334
GDAP1L60VCharcot-Marie-Tooth disease type 4AUncertain significance
(May 31, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr8:75262697
GRCh38:
Chr8:74350462
GDAP1, LOC130000622M1fsCharcot-Marie-Tooth disease type 4APathogenic
(Jul 29, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr8:75274117
GRCh38:
Chr8:74361882
GDAP1Charcot-Marie-Tooth disease type 4ALikely pathogenic
(May 29, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr8:75263635
GRCh38:
Chr8:74351400
GDAP1H82N, H14NCharcot-Marie-Tooth disease type 4AUncertain significance
(Oct 20, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr8:75263494
GRCh38:
Chr8:74351259
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jul 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr8:75272507
GRCh38:
Chr8:74360272
GDAP1D149A, D81A, D40ACharcot-Marie-Tooth disease type 4AUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr8:75276573
GRCh38:
Chr8:74364338
GDAP1A241T, A282T, A292T, A350TCharcot-Marie-Tooth disease type 4AUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr8:75275159
GRCh38:
Chr8:74362924
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Apr 15, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr8:75272452
GRCh38:
Chr8:74360217
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Oct 25, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr8:75272361
GRCh38:
Chr8:74360126
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Aug 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr8:75276446
GRCh38:
Chr8:74364211
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jun 22, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr8:75263591
GRCh38:
Chr8:74351356
GDAP1W67LCharcot-Marie-Tooth disease type 4AUncertain significance
(May 5, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr8:75274140
GRCh38:
Chr8:74361905
GDAP1S101F, S60F, S111F, S169FCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 18, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr8:75272424-75272426
GRCh38:
Chr8:74360189-74360191
GDAP1Q122del, Q54del, Q13delCharcot-Marie-Tooth disease type 4A, Inborn genetic diseasesUncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr8:75275237
GRCh38:
Chr8:74363002
GDAP1V106F, V147F, V157F, V215FCharcot-Marie-Tooth disease type 4AUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr8:75276318
GRCh38:
Chr8:74364083
GDAP1R156G, R197G, R207G, R265GCharcot-Marie-Tooth disease type 4AUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr8:75272465
GRCh38:
Chr8:74360230
GDAP1A135G, A26G, A67GCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 27, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr8:75272434
GRCh38:
Chr8:74360199
GDAP1R125G, R16G, R57GCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr8:75263641
GRCh38:
Chr8:74351406
GDAP1E16Q, E84QCharcot-Marie-Tooth disease type 4AUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr8:75275247
GRCh38:
Chr8:74363012
GDAP1Q109P, Q150P, Q160P, Q218PCharcot-Marie-Tooth disease type 4AUncertain significance
(Jul 2, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr8:75276359
GRCh38:
Chr8:74364124
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Dec 12, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr8:75262768
GRCh38:
Chr8:74350533
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 10, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr8:75276288
GRCh38:
Chr8:74364053
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Sep 17, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr8:75274205
GRCh38:
Chr8:74361970
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Oct 7, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr8:75272469
GRCh38:
Chr8:74360234
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jan 14, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr8:75276467
GRCh38:
Chr8:74364232
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Sep 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr8:75275227
GRCh38:
Chr8:74362992
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Nov 4, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr8:75274165
GRCh38:
Chr8:74361930
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Nov 1, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr8:75272518
GRCh38:
Chr8:74360283
GDAP1P153S, P44S, P85SCharcot-Marie-Tooth disease type 4ALikely pathogenic
(Oct 14, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr8:75272551
GRCh38:
Chr8:74360316
GDAP1Charcot-Marie-Tooth disease type 4AUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr8:75262757
GRCh38:
Chr8:74350522
GDAP1, LOC130000622D21NCharcot-Marie-Tooth disease type 4A, Inborn genetic diseasesUncertain significance
(Jun 2, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr8:75276567
GRCh38:
Chr8:74364332
GDAP1I239V, I290V, I348V, I280VCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr8:75272506
GRCh38:
Chr8:74360271
GDAP1D40H, D81H, D149HCharcot-Marie-Tooth disease type 4A, not providedConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr8:75263582
GRCh38:
Chr8:74351347
GDAP1N64SCharcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2KConflicting interpretations of pathogenicity
(Aug 21, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr8:75263587
GRCh38:
Chr8:74351352
GDAP1P66SCharcot-Marie-Tooth disease type 4ALikely pathogenic
(Sep 17, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr8:75275212
GRCh38:
Chr8:74362977
GDAP1K148N, K206N, K138N, K97NCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr8:75262719-75262720
GRCh38:
Chr8:74350484-74350485
GDAP1, LOC130000622G10fsCharcot-Marie-Tooth disease type 4APathogenic
(Aug 30, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr8:75276453
GRCh38:
Chr8:74364218
GDAP1R310W, R201W, R242W, R252WCharcot-Marie-Tooth disease type 4APathogenic
(Dec 10, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr8:75262697-75276602
GDAP1Charcot-Marie-Tooth disease type 4APathogenic
(Jul 22, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr8:75262709
GRCh38:
Chr8:74350474
GDAP1, LOC130000622Q5*Charcot-Marie-Tooth disease type 4APathogenic
(Jun 28, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr8:75263638
GRCh38:
Chr8:74351403
GDAP1E16fs, E84fsCharcot-Marie-Tooth disease type 4APathogenic
(Dec 9, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr8:75276433
GRCh38:
Chr8:74364198
GDAP1A245V, A194V, A303V, A235VCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr8:75276539
GRCh38:
Chr8:74364304
GDAP1M338I, M229I, M270I, M280ICharcot-Marie-Tooth disease type 4AUncertain significance
(Oct 28, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr8:74888517-75276602
LY96, GDAP1, JPH1, TMEM70Charcot-Marie-Tooth disease type 4A, Mitochondrial complex V (ATP synthase) deficiency nuclear type 2Uncertain significance
(Feb 28, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr8:75274178
GRCh38:
Chr8:74361943
GDAP1Q114*, Q124*, Q73*, Q182*Charcot-Marie-Tooth disease type 4APathogenic
(Jul 22, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr8:75276399
GRCh38:
Chr8:74364164
GDAP1V224L, V292L, V183L, V234LCharcot-Marie-Tooth disease type 4A, Inborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr8:75274168
GRCh38:
Chr8:74361933
GDAP1P111fs, P70fs, P121fs, P179fsCharcot-Marie-Tooth disease type 4APathogenic
(Jan 13, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr8:75263650
GRCh38:
Chr8:74351415
GDAP1I19V, I87VCharcot-Marie-Tooth disease type 4AUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr8:75262607-75262608
GRCh38:
Chr8:74350372-74350373
GDAP1Charcot-Marie-Tooth disease type 4ABenign
(Aug 31, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr8:75276278
GRCh38:
Chr8:74364043
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Oct 5, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr8:75276362
GRCh38:
Chr8:74364127
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jun 20, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr8:75274222
GRCh38:
Chr8:74361987
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 3, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr8:75262741
GRCh38:
Chr8:74350506
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4ALikely benign
(Feb 10, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr8:75276389
GRCh38:
Chr8:74364154
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jul 19, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr8:75272418
GRCh38:
Chr8:74360183
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 8, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr8:75263634
GRCh38:
Chr8:74351399
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Feb 8, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr8:75272511
GRCh38:
Chr8:74360276
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Mar 4, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr8:75276410
GRCh38:
Chr8:74364175
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Feb 4, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr8:75262735
GRCh38:
Chr8:74350500
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4ALikely benign
(May 11, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr8:75274147
GRCh38:
Chr8:74361912
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Sep 6, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr8:75276440
GRCh38:
Chr8:74364205
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Jun 8, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr8:75275188
GRCh38:
Chr8:74362953
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Aug 3, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr8:75276371
GRCh38:
Chr8:74364136
GDAP1Charcot-Marie-Tooth disease type 4ALikely benign
(Oct 21, 2019)
criteria provided, single submitter
94.
GRCh37:
Chr8:75262718
GRCh38:
Chr8:74350483
GDAP1, LOC130000622Q8*Charcot-Marie-Tooth disease type 4APathogenic
(Sep 6, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr8:75274211
GRCh38:
Chr8:74361976
GDAP1K125*, K135*, K193*, K84*Charcot-Marie-Tooth disease type 4APathogenic
(Sep 1, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr8:75263623-75263627
GRCh38:
Chr8:74351388-74351392
GDAP1V11fs, V79fsCharcot-Marie-Tooth disease type 4APathogenic
(Sep 25, 2020)
criteria provided, single submitter
97.
GRCh37:
Chr8:75272387
GRCh38:
Chr8:74360152
GDAP1L109*, L41*Charcot-Marie-Tooth disease type 4APathogenic
(Aug 28, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr8:75272420
GRCh38:
Chr8:74360185
GDAP1V121fs, V12fs, V53fsCharcot-Marie-Tooth disease type 4APathogenic
(Jan 8, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr8:75262814
GRCh38:
Chr8:74350579
GDAP1, LOC130000622Charcot-Marie-Tooth disease type 4ALikely pathogenic
(Mar 5, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr8:75272366-75272551
GDAP1Charcot-Marie-Tooth disease type 4ALikely pathogenic
(Aug 16, 2016)
criteria provided, single submitter
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