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Items: 1 to 100 of 236

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:167159595
GRCh38:
Chr2:166303085
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(May 31, 2018)
criteria provided, single submitterVCV000573325
2.
GRCh37:
Chr2:167159596
GRCh38:
Chr2:166303086
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 26, 2019)
criteria provided, single submitterVCV000956002
3.
GRCh37:
Chr2:167159600
GRCh38:
Chr2:166303090
SCN9AK301*Primary erythromelalgiaLikely pathogenic
(Jul 27, 2019)
criteria provided, single submitterVCV001028064
4.
GRCh37:
Chr2:167159601
GRCh38:
Chr2:166303091
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Dec 13, 2017)
criteria provided, single submitterVCV000538438
5.
GRCh37:
Chr2:167159609
GRCh38:
Chr2:166303099
SCN9AD298Nnot specified, not providedUncertain significance
(Mar 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000373380
6.
GRCh37:
Chr2:167159610
GRCh38:
Chr2:166303100
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Dec 19, 2019)
criteria provided, single submitterVCV001123273
7.
GRCh37:
Chr2:167159619
GRCh38:
Chr2:166303109
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Jul 2, 2017)
criteria provided, single submitterVCV000471168
8.
GRCh37:
Chr2:167159621
GRCh38:
Chr2:166303111
SCN9AE294KHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 4, 2018)
criteria provided, single submitterVCV000471167
9.
GRCh37:
Chr2:167159623
GRCh38:
Chr2:166303113
SCN9AL293QHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jun 27, 2020)
criteria provided, single submitterVCV001063492
10.
GRCh37:
Chr2:167159624
GRCh38:
Chr2:166303114
SCN9AL293IHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(May 22, 2020)
criteria provided, single submitterVCV001060982
11.
GRCh37:
Chr2:167159625
GRCh38:
Chr2:166303115
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001157179
12.
GRCh37:
Chr2:167159640
GRCh38:
Chr2:166303130
SCN9Anot providedUncertain significance
(Apr 18, 2017)
criteria provided, single submitterVCV000501209
13.
GRCh37:
Chr2:167159645
GRCh38:
Chr2:166303135
SCN9AL286IHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 5, 2020)
criteria provided, single submitterVCV000471166
14.
GRCh37:
Chr2:167159647
GRCh38:
Chr2:166303137
SCN9AT285IGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Nov 28, 2018)
criteria provided, single submitterVCV000649291
15.
GRCh37:
Chr2:167159652
GRCh38:
Chr2:166303142
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Feb 5, 2020)
criteria provided, single submitterVCV001142612
16.
GRCh37:
Chr2:167159654
GRCh38:
Chr2:166303144
SCN9AN283Ynot providedUncertain significance
(Sep 21, 2017)
criteria provided, single submitterVCV000452227
17.
GRCh37:
Chr2:167159655
GRCh38:
Chr2:166303145
SCN9Anot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Likely benign
(Mar 15, 2018)
criteria provided, single submitterVCV000752114
18.
GRCh37:
Chr2:167159663
GRCh38:
Chr2:166303153
SCN9AL280FHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(May 4, 2020)
criteria provided, single submitterVCV001063846
19.
GRCh37:
Chr2:167159670
GRCh38:
Chr2:166303160
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIALikely benign
(Jun 18, 2020)
criteria provided, single submitterVCV000794320
20.
GRCh37:
Chr2:167159671
GRCh38:
Chr2:166303161
SCN9AR277QGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIALikely benign
(Aug 30, 2020)
criteria provided, single submitterVCV000069411
21.
GRCh37:
Chr2:167159672
GRCh38:
Chr2:166303162
SCN9AIndifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA
Uncertain significance
(Apr 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000566530
22.
GRCh37:
Chr2:167159672
GRCh38:
Chr2:166303162
SCN9AR277*Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, Indifference to pain, congenital, autosomal recessive
Pathogenic
(Jul 9, 2020)
criteria provided, single submitterVCV000006362
23.
GRCh37:
Chr2:167159679
GRCh38:
Chr2:166303169
SCN9AIndifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Conflicting interpretations of pathogenicity
(Nov 21, 2020)
criteria provided, conflicting interpretationsVCV000538490
24.
GRCh37:
Chr2:167159703
GRCh38:
Chr2:166303193
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, not specified
Likely benign
(Sep 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000388095
25.
GRCh37:
Chr2:167159705
GRCh38:
Chr2:166303195
SCN9AL266MGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Dec 18, 2018)
criteria provided, single submitterVCV000639465
26.
GRCh37:
Chr2:167159707
GRCh38:
Chr2:166303197
SCN9AQ265RHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV001003757
27.
GRCh37:
Chr2:167159715
GRCh38:
Chr2:166303205
SCN9AI262MHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV001057246
28.
GRCh37:
Chr2:167159716
GRCh38:
Chr2:166303206
SCN9AI262THereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jun 21, 2017)
criteria provided, single submitterVCV000471165
29.
GRCh37:
Chr2:167159721
GRCh38:
Chr2:166303211
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Jul 21, 2020)
criteria provided, single submitterVCV001123734
30.
GRCh37:
Chr2:167159727
GRCh38:
Chr2:166303217
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Oct 8, 2020)
criteria provided, single submitterVCV000700566
31.
GRCh37:
Chr2:167159728
GRCh38:
Chr2:166303218
SCN9AV258GHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jul 29, 2019)
criteria provided, single submitterVCV000960350
32.
GRCh37:
Chr2:167159729
GRCh38:
Chr2:166303219
SCN9AV258MHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV001054352
33.
GRCh37:
Chr2:167159737
GRCh38:
Chr2:166303227
SCN9AC255YGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA, not provided
Uncertain significance
(Jun 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000647001
34.
GRCh37:
Chr2:167159741-167159742
GRCh38:
Chr2:166303231-166303232
SCN9AF254fsGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAPathogenic
(Oct 9, 2018)
criteria provided, single submitterVCV000570466
35.
GRCh37:
Chr2:167159751
GRCh38:
Chr2:166303241
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIALikely benign
(Oct 2, 2020)
criteria provided, single submitterVCV001105588
36.
GRCh37:
Chr2:167159751
GRCh38:
Chr2:166303241
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Mar 17, 2020)
criteria provided, single submitterVCV000471164
37.
GRCh37:
Chr2:167159753
GRCh38:
Chr2:166303243
SCN9AI250VHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV000836587
38.
GRCh37:
Chr2:167159756
GRCh38:
Chr2:166303246
SCN9AM249LHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Feb 23, 2017)
criteria provided, single submitterVCV000471163
39.
GRCh37:
Chr2:167159762
GRCh38:
Chr2:166303252
SCN9AD247HGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Jun 8, 2020)
criteria provided, single submitterVCV001040594
40.
GRCh37:
Chr2:167159762
GRCh38:
Chr2:166303252
SCN9AD247NGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Apr 21, 2020)
criteria provided, single submitterVCV001036912
41.
GRCh37:
Chr2:167159777
GRCh38:
Chr2:166303267
SCN9AV242LGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000946593
42.
GRCh37:
Chr2:167159780
GRCh38:
Chr2:166303270
SCN9AS241TPrimary erythromelalgiaConflicting interpretations of pathogenicity
(Jan 14, 2020)
no assertion criteria providedVCV000006351
43.
GRCh37:
Chr2:167159786
GRCh38:
Chr2:166303276
SCN9AI239VHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV001009477
44.
GRCh37:
Chr2:167159788
GRCh38:
Chr2:166303278
SCN9AL238Snot providedUncertain significance
(Nov 13, 2019)
criteria provided, single submitterVCV001310205
45.
GRCh37:
Chr2:167159800
GRCh38:
Chr2:166303290
SCN9AI234TPrimary erythromelalgiaPathogenic
(Jan 14, 2020)
no assertion criteria providedVCV000915877
46.
GRCh37:
Chr2:167159806
GRCh38:
Chr2:166303296
SCN9AK232Rnot providedUncertain significance
(Apr 28, 2015)
criteria provided, single submitterVCV000245762
47.
GRCh37:
Chr2:167159810-167159811
GRCh38:
Chr2:166303300-166303301
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(May 11, 2017)
criteria provided, single submitterVCV000471162
48.
GRCh37:
Chr2:167159818
GRCh38:
Chr2:166303308
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 11, 2017)
criteria provided, single submitterVCV000538479
49.
GRCh37:
Chr2:167159818
GRCh38:
Chr2:166303308
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA, not provided
Conflicting interpretations of pathogenicity
(Feb 18, 2020)
criteria provided, conflicting interpretationsVCV000501571
50.
GRCh37:
Chr2:167159832
GRCh38:
Chr2:166303322
SCN9Anot providedLikely benign
(Apr 25, 2018)
criteria provided, single submitterVCV000682294
51.
GRCh37:
Chr2:167160735
GRCh38:
Chr2:166304225
SCN9AIndifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Small fiber neuropathy, not specified
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000139076
52.
GRCh37:
Chr2:167160739
GRCh38:
Chr2:166304229
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, not provided
Conflicting interpretations of pathogenicity
(Nov 13, 2020)
criteria provided, conflicting interpretationsVCV000198152
53.
GRCh37:
Chr2:167160740
GRCh38:
Chr2:166304230
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Aug 19, 2019)
criteria provided, single submitterVCV001083183
54.
GRCh37:
Chr2:167160751
GRCh38:
Chr2:166304241
SCN9AP229TInherited Erythromelalgia, Small fiber neuropathy, Indifference to pain, congenital, autosomal recessive,
Paroxysmal extreme pain disorder, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Conflicting interpretations of pathogenicity
(Apr 14, 2020)
criteria provided, conflicting interpretationsVCV000331998
55.
GRCh37:
Chr2:167160752
GRCh38:
Chr2:166304242
SCN9AI228Mnone provided, Indifference to pain, congenital, autosomal recessive, not specified,
Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia, Severe myoclonic epilepsy in infancy,
Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA, Paroxysmal extreme pain disorder,
Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Hereditary sensory and autonomic neuropathy type IIA,
Paroxysmal extreme pain disorder, Primary erythromelalgia, not provided,
...see more
Conflicting interpretations of pathogenicity
(Oct 29, 2020)
criteria provided, conflicting interpretationsVCV000198153
56.
GRCh37:
Chr2:167160764
GRCh38:
Chr2:166304254
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, not provided
Likely benign
(Oct 24, 2020)
criteria provided, single submitterVCV000750173
57.
GRCh37:
Chr2:167160779
GRCh38:
Chr2:166304269
SCN9AL219FHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 14, 2020)
criteria provided, single submitterVCV000663467
58.
GRCh37:
Chr2:167160789
GRCh38:
Chr2:166304279
SCN9AF216SPrimary erythromelalgiaPathogenic
(Aug 26, 2008)
no assertion criteria providedVCV000006365
59.
GRCh37:
Chr2:167160794
GRCh38:
Chr2:166304284
SCN9Anot provided, Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA
Conflicting interpretations of pathogenicity
(Dec 3, 2020)
criteria provided, conflicting interpretationsVCV000498084
60.
GRCh37:
Chr2:167160795
GRCh38:
Chr2:166304285
SCN9AR214Qnot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7,
Generalized epilepsy with febrile seizures plus, type 7, not specified
Uncertain significance
(Jun 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000432286
61.
GRCh37:
Chr2:167160796
GRCh38:
Chr2:166304286
SCN9AR214*Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Pathogenic
(Jul 17, 2017)
criteria provided, single submitterVCV000471161
62.
GRCh37:
Chr2:167160802
GRCh38:
Chr2:166304292
SCN9AA212TGeneralized epilepsy with febrile seizures plus, type 7Uncertain significance
(Aug 8, 2018)
criteria provided, single submitterVCV001033965
63.
GRCh37:
Chr2:167160803
GRCh38:
Chr2:166304293
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Jan 24, 2019)
criteria provided, single submitterVCV000800017
64.
GRCh37:
Chr2:167160808
GRCh38:
Chr2:166304298
SCN9AV210Inot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Uncertain significance
(Oct 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000246187
65.
GRCh37:
Chr2:167160810
GRCh38:
Chr2:166304300
SCN9AN209SHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Aug 25, 2019)
criteria provided, single submitterVCV000957269
66.
GRCh37:
Chr2:167160820
GRCh38:
Chr2:166304310
SCN9AN206DPrimary erythromelalgiaBenign
(Aug 26, 2008)
no assertion criteria providedVCV000021350
67.
GRCh37:
Chr2:167160823-167160824
GRCh38:
Chr2:166304313-166304314
SCN9AV205fsnot providedLikely pathogenic
(Nov 15, 2018)
criteria provided, single submitterVCV000805403
68.
GRCh37:
Chr2:167160835
GRCh38:
Chr2:166304325
SCN9AL201VGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA, Primary erythromelalgia
Uncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV000021349
69.
GRCh37:
Chr2:167160836
GRCh38:
Chr2:166304326
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Oct 5, 2020)
criteria provided, single submitterVCV000750740
70.
GRCh37:
Chr2:167162295-167162298
GRCh38:
Chr2:166305785-166305788
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Nov 20, 2018)
criteria provided, single submitterVCV000650799
71.
GRCh37:
Chr2:167162301
GRCh38:
Chr2:166305791
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely pathogenic
(Aug 24, 2020)
criteria provided, single submitterVCV001067284
72.
GRCh37:
Chr2:167162302
GRCh38:
Chr2:166305792
SCN9AA199VHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Aug 14, 2017)
criteria provided, single submitterVCV000471160
73.
GRCh37:
Chr2:167162310
GRCh38:
Chr2:166305800
SCN9Anot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Likely benign
(Mar 21, 2018)
criteria provided, single submitterVCV000755883
74.
GRCh37:
Chr2:167162312
GRCh38:
Chr2:166305802
SCN9AI196VGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Nov 19, 2019)
criteria provided, single submitterVCV000843479
75.
GRCh37:
Chr2:167162315
GRCh38:
Chr2:166305805
SCN9AV195IHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(May 9, 2019)
criteria provided, single submitterVCV000657151
76.
GRCh37:
Chr2:167162316
GRCh38:
Chr2:166305806
SCN9Anot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Likely benign
(Aug 26, 2020)
criteria provided, single submitterVCV000487198
77.
GRCh37:
Chr2:167162317
GRCh38:
Chr2:166305807
SCN9AV194DGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Aug 21, 2018)
criteria provided, single submitterVCV000651922
78.
GRCh37:
Chr2:167162322
GRCh38:
Chr2:166305812
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, not provided
Likely benign
(Nov 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000471152
79.
GRCh37:
Chr2:167162328
GRCh38:
Chr2:166305818
SCN9AW190*Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAPathogenic
(Jan 27, 2020)
criteria provided, single submitterVCV000840121
80.
GRCh37:
Chr2:167162337
GRCh38:
Chr2:166305827
SCN9Anot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Likely benign
(Nov 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000471147
81.
GRCh37:
Chr2:167162338
GRCh38:
Chr2:166305828
SCN9AP187LHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, not provided,
Generalized epilepsy with febrile seizures plus, type 7
Uncertain significance
(Jun 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000574441
82.
GRCh37:
Chr2:167162339
GRCh38:
Chr2:166305829
SCN9AP187THereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, not provided
Uncertain significance
(Oct 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000945600
83.
GRCh37:
Chr2:167162342
GRCh38:
Chr2:166305832
SCN9AD186NGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Aug 25, 2019)
criteria provided, single submitterVCV000963911
84.
GRCh37:
Chr2:167162344
GRCh38:
Chr2:166305834
SCN9AR185Hnot specified, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive, not provided, Small fiber neuropathy,
Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, none provided
Benign/Likely benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000157596
85.
GRCh37:
Chr2:167162345
GRCh38:
Chr2:166305835
SCN9AR185CHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA,
Primary erythromelalgia, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 7,
Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder
Uncertain significance
(Sep 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000471146
86.
GRCh37:
Chr2:167162362
GRCh38:
Chr2:166305852
SCN9AG179EHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jul 13, 2020)
criteria provided, single submitterVCV000538457
87.
GRCh37:
Chr2:167162366
GRCh38:
Chr2:166305856
SCN9AV178IHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Dec 14, 2018)
criteria provided, single submitterVCV000538463
88.
GRCh37:
Chr2:167162368
GRCh38:
Chr2:166305858
SCN9AC177SHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Jun 20, 2019)
criteria provided, single submitterVCV000951127
89.
GRCh37:
Chr2:167162385
GRCh38:
Chr2:166305875
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIALikely benign
(Oct 15, 2019)
criteria provided, single submitterVCV000766760
90.
GRCh37:
Chr2:167162391
GRCh38:
Chr2:166305881
SCN9Anot providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitterVCV000808879
91.
GRCh37:
Chr2:167162400
GRCh38:
Chr2:166305890
SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Likely benign
(Jan 3, 2020)
criteria provided, single submitterVCV001080526
92.
GRCh37:
Chr2:167162402
GRCh38:
Chr2:166305892
SCN9AE166KHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Apr 12, 2019)
criteria provided, single submitterVCV000859180
93.
GRCh37:
Chr2:167162410
GRCh38:
Chr2:166305900
SCN9AY163Cnot providedUncertain significance
(Apr 1, 2016)
criteria provided, single submitterVCV000234919
94.
GRCh37:
Chr2:167162416
GRCh38:
Chr2:166305906
SCN9AG161AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 26, 2020)
criteria provided, single submitterVCV001006258
95.
GRCh37:
Chr2:167162419
GRCh38:
Chr2:166305909
SCN9AT160SGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000651956
96.
GRCh37:
Chr2:167162426
GRCh38:
Chr2:166305916
SCN9AT158SHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Nov 16, 2019)
criteria provided, single submitterVCV000958881
97.
GRCh37:
Chr2:167162428
GRCh38:
Chr2:166305918
SCN9AY157SHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Uncertain significance
(Oct 28, 2020)
criteria provided, single submitterVCV000851470
98.
GRCh37:
Chr2:167162428
GRCh38:
Chr2:166305918
SCN9AY157CGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Jul 5, 2019)
criteria provided, single submitterVCV000653235
99.
GRCh37:
Chr2:167162438-167162445
GRCh38:
Chr2:166305928-166305935
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Aug 2, 2020)
criteria provided, single submitterVCV000841012
100.
GRCh37:
Chr2:167162438
GRCh38:
Chr2:166305928
SCN9Anot provided, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Likely benign
(Jan 28, 2020)
criteria provided, single submitterVCV000759679
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