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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:156830486
GRCh38:
Chr1:156860694
NTRK1not providedBenign
(Jan 6, 2019)
criteria provided, single submitterVCV001269629
2.
GRCh37:
Chr1:156830535
GRCh38:
Chr1:156860743
NTRK1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001208641
3.
GRCh37:
Chr1:156830683
GRCh38:
Chr1:156860891
NTRK1not specifiedLikely benign
(Jun 6, 2016)
criteria provided, single submitterVCV000386756
4.
GRCh37:
Chr1:156830688
GRCh38:
Chr1:156860896
NTRK1not providedLikely benign
(Feb 5, 2021)
criteria provided, single submitterVCV000378305
5.
GRCh37:
Chr1:156830699
GRCh38:
Chr1:156860907
NTRK1not specifiedLikely benign
(Dec 26, 2017)
criteria provided, single submitterVCV000514261
6.
GRCh37:
Chr1:156830727
GRCh38:
Chr1:156860935
NTRK1M1LHereditary insensitivity to pain with anhidrosisPathogenic
(Nov 28, 2018)
criteria provided, single submitterVCV000931321
7.
GRCh37:
Chr1:156830733
GRCh38:
Chr1:156860941
NTRK1R3GHereditary insensitivity to pain with anhidrosisUncertain significance
(Apr 17, 2020)
no assertion criteria providedVCV000991730
8.
GRCh37:
Chr1:156830736
GRCh38:
Chr1:156860944
NTRK1G4SHereditary insensitivity to pain with anhidrosis, not providedConflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000289495
9.
GRCh37:
Chr1:156830738
GRCh38:
Chr1:156860946
NTRK1Hereditary insensitivity to pain with anhidrosisUncertain significance
(Nov 28, 2017)
criteria provided, single submitterVCV000526726
10.
GRCh37:
Chr1:156830742
GRCh38:
Chr1:156860950
NTRK1R6WHereditary insensitivity to pain with anhidrosis, not specified, not provided
Conflicting interpretations of pathogenicity
(Sep 1, 2021)
criteria provided, conflicting interpretationsVCV000234386
11.
GRCh37:
Chr1:156830748
GRCh38:
Chr1:156860956
NTRK1G8RHereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000965318
12.
GRCh37:
Chr1:156830751
GRCh38:
Chr1:156860959
NTRK1Q9*Hereditary insensitivity to pain with anhidrosisPathogenic
(Aug 5, 2008)
no assertion criteria providedVCV000038360
13.
GRCh37:
Chr1:156830758
GRCh38:
Chr1:156860966
NTRK1G11AHereditary insensitivity to pain with anhidrosisUncertain significance
(Nov 5, 2019)
criteria provided, single submitterVCV000940376
14.
GRCh37:
Chr1:156830777
GRCh38:
Chr1:156860985
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jan 3, 2020)
criteria provided, single submitterVCV001090558
15.
GRCh37:
Chr1:156830779
GRCh38:
Chr1:156860987
NTRK1G18EHereditary insensitivity to pain with anhidrosis, not specified, not provided
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretationsVCV000193129
16.
GRCh37:
Chr1:156830780
GRCh38:
Chr1:156860988
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 10, 2019)
criteria provided, single submitterVCV001110659
17.
GRCh37:
Chr1:156830783
GRCh38:
Chr1:156860991
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Oct 13, 2020)
criteria provided, single submitterVCV001137336
18.
GRCh37:
Chr1:156830783
GRCh38:
Chr1:156860991
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Feb 24, 2020)
criteria provided, single submitterVCV001099216
19.
GRCh37:
Chr1:156830791
GRCh38:
Chr1:156860999
NTRK1L22QHereditary insensitivity to pain with anhidrosisUncertain significance
(Jun 14, 2019)
criteria provided, single submitterVCV000456622
20.
GRCh37:
Chr1:156830792
GRCh38:
Chr1:156861000
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Apr 18, 2019)
criteria provided, single submitterVCV001085124
21.
GRCh37:
Chr1:156830814
GRCh38:
Chr1:156861022
NTRK1S30PHereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 26, 2019)
criteria provided, single submitterVCV000664786
22.
GRCh37:
Chr1:156830818
GRCh38:
Chr1:156861026
NTRK1A31Vnot providedUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV001313367
23.
GRCh37:
Chr1:156830825
GRCh38:
Chr1:156861033
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001150114
24.
GRCh37:
Chr1:156830828
GRCh38:
Chr1:156861036
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 22, 2019)
criteria provided, single submitterVCV001108594
25.
GRCh37:
Chr1:156830829
GRCh38:
Chr1:156861037
NTRK1P35SHereditary insensitivity to pain with anhidrosisUncertain significance
(Dec 13, 2019)
criteria provided, single submitterVCV000847162
26.
GRCh37:
Chr1:156830837
GRCh38:
Chr1:156861045
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Feb 5, 2020)
criteria provided, single submitterVCV001100749
27.
GRCh37:
Chr1:156830842
GRCh38:
Chr1:156861050
NTRK1A39DHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV000991731
28.
GRCh37:
Chr1:156830843
GRCh38:
Chr1:156861051
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Dec 23, 2019)
criteria provided, single submitterVCV001120409
29.
GRCh37:
Chr1:156830843
GRCh38:
Chr1:156861051
NTRK1not provided, Hereditary insensitivity to pain with anhidrosis, not specified
Likely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000705137
30.
GRCh37:
Chr1:156830845-156830846
GRCh38:
Chr1:156861053-156861054
NTRK1C41fsnot providedLikely pathogenic
(May 15, 2017)
criteria provided, single submitterVCV000429790
31.
GRCh37:
Chr1:156830857
GRCh38:
Chr1:156861065
NTRK1G44DHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000843966
32.
GRCh37:
Chr1:156830864
GRCh38:
Chr1:156861072
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV000736602
33.
GRCh37:
Chr1:156830866
GRCh38:
Chr1:156861074
NTRK1G47AHereditary insensitivity to pain with anhidrosisUncertain significance
(Jun 28, 2019)
criteria provided, single submitterVCV000526732
34.
GRCh37:
Chr1:156830874
GRCh38:
Chr1:156861082
NTRK1C50RHereditary insensitivity to pain with anhidrosisUncertain significance
(Feb 26, 2019)
criteria provided, single submitterVCV000841835
35.
GRCh37:
Chr1:156830878
GRCh38:
Chr1:156861086
NTRK1T51IHereditary insensitivity to pain with anhidrosisUncertain significance
(Dec 17, 2018)
criteria provided, single submitterVCV000642171
36.
GRCh37:
Chr1:156830883
GRCh38:
Chr1:156861091
NTRK1D53NHereditary insensitivity to pain with anhidrosisUncertain significance
(May 13, 2019)
criteria provided, single submitterVCV000661248
37.
GRCh37:
Chr1:156830883
GRCh38:
Chr1:156861091
NTRK1D53HHereditary insensitivity to pain with anhidrosis, not providedConflicting interpretations of pathogenicity
(Apr 1, 2021)
criteria provided, conflicting interpretationsVCV000292871
38.
GRCh37:
Chr1:156830890
GRCh38:
Chr1:156861098
NTRK1A55DHereditary insensitivity to pain with anhidrosisUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000936750
39.
GRCh37:
Chr1:156830909
GRCh38:
Chr1:156861117
NTRK1Hereditary insensitivity to pain with anhidrosis, not providedLikely benign
(Jun 1, 2018)
criteria provided, single submitterVCV000762815
40.
GRCh37:
Chr1:156830911
GRCh38:
Chr1:156861119
NTRK1L62Pnot provided, Hereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000573468
41.
GRCh37:
Chr1:156830912
GRCh38:
Chr1:156861120
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Apr 1, 2019)
criteria provided, single submitterVCV001094442
42.
GRCh37:
Chr1:156830915
GRCh38:
Chr1:156861123
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jul 16, 2020)
criteria provided, single submitterVCV001092947
43.
GRCh37:
Chr1:156830919
GRCh38:
Chr1:156861127
NTRK1A65THereditary insensitivity to pain with anhidrosisUncertain significance
(Dec 28, 2019)
criteria provided, single submitterVCV000859767
44.
GRCh37:
Chr1:156830923
GRCh38:
Chr1:156861131
NTRK1E66GHereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 10, 2020)
criteria provided, single submitterVCV000963081
45.
GRCh37:
Chr1:156830927
GRCh38:
Chr1:156861135
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001145573
46.
GRCh37:
Chr1:156830928
GRCh38:
Chr1:156861136
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV001111320
47.
GRCh37:
Chr1:156830928
GRCh38:
Chr1:156861136
NTRK1L68VHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 14, 2018)
criteria provided, single submitterVCV000578718
48.
GRCh37:
Chr1:156830933-156830934
GRCh38:
Chr1:156861141-156861142
NTRK1E70fsHereditary insensitivity to pain with anhidrosisPathogenic
(Mar 1, 2009)
no assertion criteria providedVCV000029920
49.
GRCh37:
Chr1:156830948
GRCh38:
Chr1:156861156
NTRK1not provided, Hereditary insensitivity to pain with anhidrosis, not specified
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000292872
50.
GRCh37:
Chr1:156831045
GRCh38:
Chr1:156861253
NTRK1not providedLikely benign
(Feb 16, 2019)
criteria provided, single submitterVCV001195247
51.
GRCh37:
Chr1:156831061-156831091
GRCh38:
Chr1:156861269-156861299
NTRK1not providedBenign
(Nov 28, 2018)
criteria provided, single submitterVCV001249089
52.
GRCh37:
Chr1:156831094
GRCh38:
Chr1:156861302
NTRK1not providedBenign
(Jan 6, 2019)
criteria provided, single submitterVCV001246925
53.
GRCh37:
Chr1:156831175
GRCh38:
Chr1:156861383
NTRK1not providedLikely benign
(Aug 7, 2018)
criteria provided, single submitterVCV001203315
54.
GRCh37:
Chr1:156833913
GRCh38:
Chr1:156864121
NTRK1not providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000677592
55.
GRCh37:
Chr1:156834137
GRCh38:
Chr1:156864345
NTRK1not provided, Hereditary insensitivity to pain with anhidrosisLikely benign
(Feb 27, 2018)
criteria provided, single submitterVCV000750061
56.
GRCh37:
Chr1:156834138
GRCh38:
Chr1:156864346
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000748339
57.
GRCh37:
Chr1:156834140
GRCh38:
Chr1:156864348
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jun 30, 2020)
criteria provided, single submitterVCV001130140
58.
GRCh37:
Chr1:156834141
GRCh38:
Chr1:156864349
NTRK1Hereditary insensitivity to pain with anhidrosisConflicting interpretations of pathogenicity
(Aug 20, 2020)
criteria provided, conflicting interpretationsVCV000875599
59.
GRCh37:
Chr1:156834143
GRCh38:
Chr1:156864351
NTRK1not providedLikely pathogenic
(Jan 29, 2020)
criteria provided, single submitterVCV001191075
60.
GRCh37:
Chr1:156834152
GRCh38:
Chr1:156864360
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV000705708
61.
GRCh37:
Chr1:156834157-156834158
GRCh38:
Chr1:156864365-156864366
NTRK1Q47fs, Q77fsHereditary insensitivity to pain with anhidrosisPathogenic
(Jan 12, 2019)
criteria provided, single submitterVCV000862988
62.
GRCh37:
Chr1:156834161-156834169
GRCh38:
Chr1:156864369-156864377
NTRK1Hereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 4, 2019)
criteria provided, single submitterVCV000938108
63.
GRCh37:
Chr1:156834162
GRCh38:
Chr1:156864370
NTRK1Q47*, Q77*Hereditary insensitivity to pain with anhidrosisPathogenic
(Aug 14, 2020)
criteria provided, single submitterVCV001072190
64.
GRCh37:
Chr1:156834164
GRCh38:
Chr1:156864372
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(May 20, 2020)
criteria provided, single submitterVCV001123938
65.
GRCh37:
Chr1:156834164
GRCh38:
Chr1:156864372
NTRK1Q47fs, Q77fsHereditary insensitivity to pain with anhidrosisPathogenic
(Jun 7, 2019)
criteria provided, single submitterVCV000935126
66.
GRCh37:
Chr1:156834169
GRCh38:
Chr1:156864377
NTRK1L49Q, L79QHereditary insensitivity to pain with anhidrosisUncertain significance
(Sep 18, 2019)
criteria provided, single submitterVCV000575483
67.
GRCh37:
Chr1:156834172
GRCh38:
Chr1:156864380
NTRK1Q80R, Q50RHereditary insensitivity to pain with anhidrosisUncertain significance
(Oct 23, 2018)
criteria provided, single submitterVCV000526730
68.
GRCh37:
Chr1:156834176
GRCh38:
Chr1:156864384
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Apr 29, 2019)
criteria provided, single submitterVCV001086521
69.
GRCh37:
Chr1:156834177
GRCh38:
Chr1:156864385
NTRK1L52M, L82MHereditary insensitivity to pain with anhidrosisUncertain significance
(May 27, 2019)
criteria provided, single submitterVCV000943854
70.
GRCh37:
Chr1:156834182
GRCh38:
Chr1:156864390
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001139860
71.
GRCh37:
Chr1:156834186
GRCh38:
Chr1:156864394
NTRK1R55S, R85SCharcot-Marie-Tooth disease, not specified, Hereditary insensitivity to pain with anhidrosis
Conflicting interpretations of pathogenicity
(Aug 19, 2021)
criteria provided, conflicting interpretationsVCV000584593
72.
GRCh37:
Chr1:156834186
GRCh38:
Chr1:156864394
NTRK1R55C, R85CHereditary insensitivity to pain with anhidrosisUncertain significance
(Oct 26, 2017)
criteria provided, single submitterVCV000526721
73.
GRCh37:
Chr1:156834187
GRCh38:
Chr1:156864395
NTRK1R55L, R85LHereditary insensitivity to pain with anhidrosisUncertain significance
(Apr 17, 2020)
no assertion criteria providedVCV000991732
74.
GRCh37:
Chr1:156834187
GRCh38:
Chr1:156864395
NTRK1R55H, R85HHereditary insensitivity to pain with anhidrosis, not specified, not provided
Benign/Likely benign
(Mar 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000246137
75.
GRCh37:
Chr1:156834189
GRCh38:
Chr1:156864397
NTRK1D56Y, D86YHereditary insensitivity to pain with anhidrosisUncertain significance
(Oct 7, 2019)
criteria provided, single submitterVCV000965105
76.
GRCh37:
Chr1:156834197
GRCh38:
Chr1:156864405
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Sep 17, 2020)
criteria provided, single submitterVCV001110115
77.
GRCh37:
Chr1:156834198
GRCh38:
Chr1:156864406
NTRK1G59S, G89SHereditary insensitivity to pain with anhidrosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876594
78.
GRCh37:
Chr1:156834206
GRCh38:
Chr1:156864414
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Aug 24, 2020)
criteria provided, single submitterVCV001085619
79.
GRCh37:
Chr1:156834212
GRCh38:
Chr1:156864420
NTRK1not specified, Hereditary insensitivity to pain with anhidrosis, not provided
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000513835
80.
GRCh37:
Chr1:156834213
GRCh38:
Chr1:156864421
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jun 25, 2019)
criteria provided, single submitterVCV000456615
81.
GRCh37:
Chr1:156834221-156834222
GRCh38:
Chr1:156864429-156864430
NTRK1Hereditary insensitivity to pain with anhidrosisPathogenic
(Jul 9, 2020)
criteria provided, single submitterVCV000859211
82.
GRCh37:
Chr1:156834232
GRCh38:
Chr1:156864440
NTRK1not provided, Hereditary insensitivity to pain with anhidrosisBenign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000292873
83.
GRCh37:
Chr1:156834269
GRCh38:
Chr1:156864477
NTRK1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001266752
84.
GRCh37:
Chr1:156834304
GRCh38:
Chr1:156864512
NTRK1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001263623
85.
GRCh37:
Chr1:156834364
GRCh38:
Chr1:156864572
NTRK1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001229598
86.
GRCh37:
Chr1:156834510
GRCh38:
Chr1:156864718
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jun 10, 2020)
criteria provided, single submitterVCV001117618
87.
GRCh37:
Chr1:156834512
GRCh38:
Chr1:156864720
NTRK1Hereditary insensitivity to pain with anhidrosis, not specifiedBenign
(Dec 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000292874
88.
GRCh37:
Chr1:156834515
GRCh38:
Chr1:156864723
NTRK1Hereditary insensitivity to pain with anhidrosisConflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000876595
89.
GRCh37:
Chr1:156834523
GRCh38:
Chr1:156864731
NTRK1not specifiedLikely benign
(Jul 25, 2016)
criteria provided, single submitterVCV000388090
90.
GRCh37:
Chr1:156834527
GRCh38:
Chr1:156864735
NTRK1V99M, V69Mnot provided, Hereditary insensitivity to pain with anhidrosisConflicting interpretations of pathogenicity
(Apr 1, 2021)
criteria provided, conflicting interpretationsVCV000456616
91.
GRCh37:
Chr1:156834533
GRCh38:
Chr1:156864741
NTRK1S71G, S101GHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 14, 2019)
criteria provided, single submitterVCV000839813
92.
GRCh37:
Chr1:156834534
GRCh38:
Chr1:156864742
NTRK1S101N, S71NHereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 23, 2018)
criteria provided, single submitterVCV000656600
93.
GRCh37:
Chr1:156834535
GRCh38:
Chr1:156864743
NTRK1S101R, S71RNeurodevelopmental disorderLikely pathogenic
(Sep 13, 2021)
criteria provided, single submitterVCV001321971
94.
GRCh37:
Chr1:156834537
GRCh38:
Chr1:156864745
NTRK1G72D, G102DHereditary insensitivity to pain with anhidrosisUncertain significance
(Jun 19, 2019)
criteria provided, single submitterVCV000948089
95.
GRCh37:
Chr1:156834537
GRCh38:
Chr1:156864745
NTRK1G72V, G102VHereditary insensitivity to pain with anhidrosisUncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV000939143
96.
GRCh37:
Chr1:156834538
GRCh38:
Chr1:156864746
NTRK1not provided, Hereditary insensitivity to pain with anhidrosisLikely benign
(Aug 6, 2018)
criteria provided, single submitterVCV000765098
97.
GRCh37:
Chr1:156834541
GRCh38:
Chr1:156864749
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jun 16, 2020)
criteria provided, single submitterVCV001093956
98.
GRCh37:
Chr1:156834543
GRCh38:
Chr1:156864751
NTRK1R74H, R104HHereditary insensitivity to pain with anhidrosis, not providedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000456617
99.
GRCh37:
Chr1:156834547
GRCh38:
Chr1:156864755
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Dec 1, 2020)
criteria provided, single submitterVCV000705857
100.
GRCh37:
Chr1:156834548
GRCh38:
Chr1:156864756
NTRK1V106M, V76MHereditary insensitivity to pain with anhidrosisUncertain significance
(Oct 11, 2018)
criteria provided, single submitterVCV000655441
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