U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 162

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:119631484-119631663
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr12:119617118-119624913
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 27, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr12:119624810-119624913
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Mar 24, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr12:119624907
GRCh38:
Chr12:119187102
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Oct 3, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr12:119631580
GRCh38:
Chr12:119193775
HSPB8Q170KCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr12:119631653
GRCh38:
Chr12:119193848
HSPB8T194NCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr12:119617360
GRCh38:
Chr12:119179555
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Mar 27, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr12:119631612
GRCh38:
Chr12:119193807
HSPB8S180RCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr12:119617345
GRCh38:
Chr12:119179540
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Mar 13, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:119617434
GRCh38:
Chr12:119179629
HSPB8K106RCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:119617468
GRCh38:
Chr12:119179663
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Mar 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:119617398
GRCh38:
Chr12:119179593
HSPB8E94GCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(May 12, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr12:119617212
GRCh38:
Chr12:119179407
HSPB8D32ACharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr12:119624834
GRCh38:
Chr12:119187029
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Oct 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:119617156
GRCh38:
Chr12:119179351
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Sep 20, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr12:119631496
GRCh38:
Chr12:119193691
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Jun 27, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr12:119617335
GRCh38:
Chr12:119179530
HSPB8P73LCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr12:119631489
GRCh38:
Chr12:119193684
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Nov 2, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:119631638
GRCh38:
Chr12:119193833
HSPB8D189GCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:119631511
GRCh38:
Chr12:119193706
HSPB8A147TCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr12:119617321
GRCh38:
Chr12:119179516
HSPB8M68ICharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:119617168
GRCh38:
Chr12:119179363
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Feb 21, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:119617377
GRCh38:
Chr12:119179572
HSPB8P89fsCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Nov 29, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr12:119631494
GRCh38:
Chr12:119193689
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:119617167
GRCh38:
Chr12:119179362
HSPB8R17HCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:119617203
GRCh38:
Chr12:119179398
HSPB8R29HCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:119631577
GRCh38:
Chr12:119193772
HSPB8Q170fsCharcot-Marie-Tooth disease axonal type 2LPathogenic
(May 21, 2020)
criteria provided, single submitter
28.
GRCh37:
Chr12:119617260
GRCh38:
Chr12:119179455
HSPB8W48*not provided, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Dec 6, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:119631580-119631581
GRCh38:
Chr12:119193775-119193776
HSPB8Q170fsCharcot-Marie-Tooth disease axonal type 2LLikely pathogenic
(Jul 23, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr12:119617381
GRCh38:
Chr12:119179576
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Jan 8, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr12:119624908
GRCh38:
Chr12:119187103
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(May 8, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr12:119617502
GRCh38:
Chr12:119179697
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Aug 19, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:119624912
GRCh38:
Chr12:119187107
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Oct 23, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr12:119617210
GRCh38:
Chr12:119179405
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Sep 29, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:119617264
GRCh38:
Chr12:119179459
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Apr 19, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr12:119631590
GRCh38:
Chr12:119193785
HSPB8P173LCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr12:119624836
GRCh38:
Chr12:119187031
HSPB8H125RCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr12:119617169
GRCh38:
Chr12:119179364
HSPB8R18*Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr12:119631631
GRCh38:
Chr12:119193826
HSPB8P187SCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 14, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr12:119617372
GRCh38:
Chr12:119179567
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Aug 16, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:119617238
GRCh38:
Chr12:119179433
HSPB8P41SCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr12:119624859
GRCh38:
Chr12:119187054
HSPB8G133SCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Nov 13, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr12:119617128
GRCh38:
Chr12:119179323
HSPB8G4DCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr12:119617329
GRCh38:
Chr12:119179524
HSPB8R71QCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr12:119624853
GRCh38:
Chr12:119187048
HSPB8E131KCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr12:119617259
GRCh38:
Chr12:119179454
HSPB8W48RCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr12:119617267
GRCh38:
Chr12:119179462
HSPB8D50ECharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 31, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr12:119631523
GRCh38:
Chr12:119193718
HSPB8P151SCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jul 3, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr12:119631551
GRCh38:
Chr12:119193746
HSPB8P160LInborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Mar 24, 2023)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:119617161
GRCh38:
Chr12:119179356
HSPB8R15HCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 15, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr12:119617175
GRCh38:
Chr12:119179370
HSPB8P20SCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 6, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr12:119617264
GRCh38:
Chr12:119179459
HSPB8Charcot-Marie-Tooth disease axonal type 2L, not specifiedBenign/Likely benign
(Jul 21, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr12:119617138
GRCh38:
Chr12:119179333
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Feb 26, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr12:119631606
GRCh38:
Chr12:119193801
HSPB8not provided, Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:119631621
GRCh38:
Chr12:119193816
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Nov 7, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr12:119617205
GRCh38:
Chr12:119179400
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Oct 27, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr12:119617366
GRCh38:
Chr12:119179561
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Dec 24, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr12:119617198
GRCh38:
Chr12:119179393
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Dec 5, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr12:119617474
GRCh38:
Chr12:119179669
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Jun 28, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr12:119617162
GRCh38:
Chr12:119179357
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Feb 12, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr12:119617310
GRCh38:
Chr12:119179505
HSPB8Charcot-Marie-Tooth disease axonal type 2LLikely benign
(Jan 29, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr12:119631634-119631635
GRCh38:
Chr12:119193829-119193830
HSPB8D189fsCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:119617482
GRCh38:
Chr12:119179677
HSPB8S122YCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr12:119617251
GRCh38:
Chr12:119179446
HSPB8T45RCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr12:119617266
GRCh38:
Chr12:119179461
HSPB8D50VCharcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseasesUncertain significance
(Dec 30, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:119617166
GRCh38:
Chr12:119179361
HSPB8R17CCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:119617305
GRCh38:
Chr12:119179500
HSPB8T63ICharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr12:119631494-119631673
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 3, 2020)
criteria provided, single submitter
69.
GRCh37:
Chr12:119631533
GRCh38:
Chr12:119193728
HSPB8V154ACharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr12:119624837
GRCh38:
Chr12:119187032
HSPB8Charcot-Marie-Tooth disease axonal type 2L, not providedLikely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:119617471
GRCh38:
Chr12:119179666
HSPB8Charcot-Marie-Tooth disease axonal type 2L, not providedLikely benign
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:119631647-119631648
GRCh38:
Chr12:119193842-119193843
HSPB8T194fsCharcot-Marie-Tooth disease axonal type 2Lnot providedno assertion provided
73.
GRCh37:
Chr12:119617346
GRCh38:
Chr12:119179541
HSPB8A77TInborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr12:119617301-119617302
GRCh38:
Chr12:119179496-119179497
HSPB8G62fsCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 28, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr12:119617328
GRCh38:
Chr12:119179523
HSPB8R71WCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr12:119617450
GRCh38:
Chr12:119179645
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr12:119617254
GRCh38:
Chr12:119179449
HSPB8A46Dnot provided, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:119631628
GRCh38:
Chr12:119193823
HSPB8L186FCharcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseasesUncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:119617428
GRCh38:
Chr12:119179623
HSPB8S104NCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr12:119617164
GRCh38:
Chr12:119179359
HSPB8L16RCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr12:119631585
GRCh38:
Chr12:119193780
HSPB8P172fsCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 18, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr12:119617202
GRCh38:
Chr12:119179397
HSPB8R29Cnot provided, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Feb 27, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:119617358
GRCh38:
Chr12:119179553
HSPB8V81MCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr12:119617160
GRCh38:
Chr12:119179355
HSPB8R15CCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr12:119617539
GRCh38:
Chr12:119179734
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jan 8, 2020)
criteria provided, single submitter
86.
GRCh37:
Chr12:119631993
GRCh38:
Chr12:119194188
HSPB8Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr12:119631786
GRCh38:
Chr12:119193981
HSPB8Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2AUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr12:119632523
GRCh38:
Chr12:119194718
HSPB8Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2AUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr12:119616699
GRCh38:
Chr12:119178894
HSPB8Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2AUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr12:119632451
GRCh38:
Chr12:119194646
HSPB8Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2AUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr12:119616596
GRCh38:
Chr12:119178791
HSPB8Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2AUncertain significance
(Nov 15, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr12:119617280
GRCh38:
Chr12:119179475
HSPB8R55CCharcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A, not provided,
Inborn genetic diseases
Uncertain significance
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr12:119617397
GRCh38:
Chr12:119179592
HSPB8E94KInborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:119617202
GRCh38:
Chr12:119179397
HSPB8R29Snot provided, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:119617231
GRCh38:
Chr12:119179426
HSPB8D38ECharcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Aug 3, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr12:119631598
GRCh38:
Chr12:119193793
HSPB8T176ACharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr12:119617244
GRCh38:
Chr12:119179439
HSPB8D43NCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr12:119617291
GRCh38:
Chr12:119179486
HSPB8Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr12:119617127
GRCh38:
Chr12:119179322
HSPB8G4SCharcot-Marie-Tooth disease axonal type 2LUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:119617257
GRCh38:
Chr12:119179452
HSPB8S47Cnot specified, Charcot-Marie-Tooth disease axonal type 2LUncertain significance
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination