| - GRCh37:
- Chr2:167133481
- GRCh38:
- Chr2:166276971
| SCN1A-AS1, SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Paroxysmal extreme pain disorder
| Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167133711
- GRCh38:
- Chr2:166277201
| SCN1A-AS1, SCN9A | Q875E, Q886E | Primary erythromelalgia | Likely pathogenic
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167133480-167133482
- GRCh38:
- Chr2:166276970-166276972
| SCN1A-AS1, SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Paroxysmal extreme pain disorder | Likely benign
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167108294-167108295
- GRCh38:
- Chr2:166251784-166251785
| SCN9A, SCN1A-AS1 | E1141fs, E1152fs | Primary erythromelalgia | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167055607
- GRCh38:
- Chr2:166199097
| SCN1A-AS1, SCN9A | R1837S, R1848S | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Primary erythromelalgia
| Uncertain significance
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167143041
- GRCh38:
- Chr2:166286531
| SCN1A-AS1, SCN9A | S469R | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Primary erythromelalgia
| Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167162277
- GRCh38:
- Chr2:166305767
| SCN9A | | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder
| Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167149693
- GRCh38:
- Chr2:166293183
| SCN1A-AS1, SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia
| Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167128928
- GRCh38:
- Chr2:166272418
| SCN9A, SCN1A-AS1 | D1100G, D1111G | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A | Uncertain significance
(Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167159600
- GRCh38:
- Chr2:166303090
| SCN9A | K301* | Primary erythromelalgia | Likely pathogenic
(Jul 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167133720
- GRCh38:
- Chr2:166277210
| SCN1A-AS1, SCN9A | V872F, V883F | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, not provided,
Paroxysmal extreme pain disorder, Neuropathy, hereditary sensory and autonomic, type 2A, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Primary erythromelalgia | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167128928
- GRCh38:
- Chr2:166272418
| SCN9A, SCN1A-AS1 | D1100A, D1111A | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055312
- GRCh38:
- Chr2:166198802
| SCN1A-AS1, SCN9A | T1935R, T1946R | Inborn genetic diseases, Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A,
Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A,
Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167159800
- GRCh38:
- Chr2:166303290
| SCN9A | I234T | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A | Pathogenic
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167136971
- GRCh38:
- Chr2:166280461
| SCN1A-AS1, SCN9A | D736H, D747H | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167054347
- GRCh38:
- Chr2:166197837
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167053799
- GRCh38:
- Chr2:166197289
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167053765
- GRCh38:
- Chr2:166197255
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167053367
- GRCh38:
- Chr2:166196857
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232504
- GRCh38:
- Chr2:166375994
| SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167168308
- GRCh38:
- Chr2:166311798
| SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167051978
- GRCh38:
- Chr2:166195468
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167149868
- GRCh38:
- Chr2:166293358
| SCN1A-AS1, SCN9A | G327E | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167060932
- GRCh38:
- Chr2:166204422
| SCN1A-AS1, SCN9A | Y1481H, Y1470H | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167054295
- GRCh38:
- Chr2:166197785
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167054282
- GRCh38:
- Chr2:166197772
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167053760
- GRCh38:
- Chr2:166197250
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232480
- GRCh38:
- Chr2:166375970
| SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167052237
- GRCh38:
- Chr2:166195727
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167168194
- GRCh38:
- Chr2:166311684
| SCN9A | Q25K | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167136970
- GRCh38:
- Chr2:166280460
| SCN1A-AS1, SCN9A | D736V, D747V | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167099163
- GRCh38:
- Chr2:166242653
| SCN1A-AS1, SCN9A | C1159Y, C1148Y | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Primary erythromelalgia,
Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167054945
- GRCh38:
- Chr2:166198435
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167054820
- GRCh38:
- Chr2:166198310
| SCN1A-AS1, SCN9A | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167053539
- GRCh38:
- Chr2:166197029
| SCN1A-AS1, SCN9A | | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder
| Uncertain significance
(Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167052129
- GRCh38:
- Chr2:166195619
| SCN1A-AS1, SCN9A | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167054774
- GRCh38:
- Chr2:166198264
| SCN1A-AS1, SCN9A | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167054772
- GRCh38:
- Chr2:166198262
| SCN9A, SCN1A-AS1 | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167053447
- GRCh38:
- Chr2:166196937
| SCN1A-AS1, SCN9A | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167052505
- GRCh38:
- Chr2:166195995
| SCN1A-AS1, SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167052453
- GRCh38:
- Chr2:166195943
| SCN1A-AS1, SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232248
- GRCh38:
- Chr2:166375738
| SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167052088
- GRCh38:
- Chr2:166195578
| SCN9A, SCN1A-AS1 | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167051980
- GRCh38:
- Chr2:166195470
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167168029
- GRCh38:
- Chr2:166311519
| SCN9A | P80S | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167128988
- GRCh38:
- Chr2:166272478
| SCN1A-AS1, SCN9A | I1080T, I1091T | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167085308
- GRCh38:
- Chr2:166228798
| SCN1A-AS1, SCN9A | R1367C, R1356C | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055902
- GRCh38:
- Chr2:166199392
| SCN1A-AS1, SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167055606
- GRCh38:
- Chr2:166199096
| SCN1A-AS1, SCN9A | R1848H, R1837H | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055023
- GRCh38:
- Chr2:166198513
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167055018
- GRCh38:
- Chr2:166198508
| SCN1A-AS1, SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167085279
- GRCh38:
- Chr2:166228769
| SCN1A-AS1, SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167056371
- GRCh38:
- Chr2:166199861
| SCN1A-AS1, SCN9A | M1582T, M1593T | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167168230
- GRCh38:
- Chr2:166311720
| SCN9A | V13I | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Primary erythromelalgia,
Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055904
- GRCh38:
- Chr2:166199394
| SCN1A-AS1, SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Primary erythromelalgia, Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A,
not provided | Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055563
- GRCh38:
- Chr2:166199053
| SCN1A-AS1, SCN9A | | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder,
not provided, Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7
| Conflicting interpretations of pathogenicity
(Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167108359
- GRCh38:
- Chr2:166251849
| SCN1A-AS1, SCN9A | V1130I, V1119I | Paroxysmal extreme pain disorder, Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167134819
- GRCh38:
- Chr2:166278309
| SCN1A-AS1, SCN9A | F772S, F783S | Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A
| Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167159737
- GRCh38:
- Chr2:166303227
| SCN9A | C255Y | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, not provided,
Inborn genetic diseases, Primary erythromelalgia, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055204
- GRCh38:
- Chr2:166198694
| SCN1A-AS1, SCN9A | D1982V, D1971V | Inborn genetic diseases, not specified, Neuropathy, hereditary sensory and autonomic, type 2A,
Generalized epilepsy with febrile seizures plus, type 7, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Paroxysmal extreme pain disorder, not provided | Conflicting interpretations of pathogenicity
(May 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167138295
- GRCh38:
- Chr2:166281785
| SCN1A-AS1, SCN9A | K666N, K655N | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Paroxysmal extreme pain disorder, Primary erythromelalgia | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167060891
- GRCh38:
- Chr2:166204381
| SCN9A, SCN1A-AS1 | | Severe myoclonic epilepsy in infancy, Primary erythromelalgia, Generalized epilepsy with febrile seizures plus, type 7,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167055741
- GRCh38:
- Chr2:166199231
| SCN1A-AS1, SCN9A | S1792C, S1803C | Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167159672
- GRCh38:
- Chr2:166303162
| SCN9A | | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Paroxysmal extreme pain disorder, Inborn genetic diseases, Primary erythromelalgia
| Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167144976
- GRCh38:
- Chr2:166288466
| SCN1A-AS1, SCN9A | R429C | Inborn genetic diseases, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7, Febrile seizures, familial, 1,
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167159679
- GRCh38:
- Chr2:166303169
| SCN9A | | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Primary erythromelalgia,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167141333
- GRCh38:
- Chr2:166284823
| SCN1A-AS1, SCN9A | S535L | Primary erythromelalgia, Severe myoclonic epilepsy in infancy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, not provided,
Primary erythromelalgia | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167145063
- GRCh38:
- Chr2:166288553
| SCN1A-AS1, SCN9A | V400M | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, not provided
| Pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055201
- GRCh38:
- Chr2:166198691
| SCN1A-AS1, SCN9A | S1972I, S1983I | Primary erythromelalgia, Severe myoclonic epilepsy in infancy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167055329
- GRCh38:
- Chr2:166198819
| SCN1A-AS1, SCN9A | N1929K, N1940K | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A,
Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7, Severe myoclonic epilepsy in infancy,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167162337
- GRCh38:
- Chr2:166305827
| SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, not provided,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder,
Primary erythromelalgia, Inborn genetic diseases | Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167162345
- GRCh38:
- Chr2:166305835
| SCN9A | R185C | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A,
Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7, Severe myoclonic epilepsy in infancy,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167083107
- GRCh38:
- Chr2:166226597
| SCN1A-AS1, SCN9A | I1445M, I1456M | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A,
Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7, Severe myoclonic epilepsy in infancy,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167085264
- GRCh38:
- Chr2:166228754
| SCN1A-AS1, SCN9A | | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7 | Conflicting interpretations of pathogenicity
(Jan 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167099157
- GRCh38:
- Chr2:166242647
| SCN1A-AS1, SCN9A | R1150Q, W1161* | not provided, Inborn genetic diseases, Paroxysmal extreme pain disorder,
Generalized epilepsy with febrile seizures plus, type 7, See cases, Primary erythromelalgia
| Conflicting interpretations of pathogenicity
(Mar 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167108299
- GRCh38:
- Chr2:166251789
| SCN1A-AS1, SCN9A | E1139K, E1150K | Inborn genetic diseases, not provided, Neuropathy, hereditary sensory and autonomic, type 2A,
Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167129135
- GRCh38:
- Chr2:166272625
| SCN1A-AS1, SCN9A | T1031I, T1042I | Inborn genetic diseases, not provided, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A,
Generalized epilepsy with febrile seizures plus, type 7 | Uncertain significance
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167138287
- GRCh38:
- Chr2:166281777
| SCN1A-AS1, SCN9A | R658H, R669H | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A,
Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7, Severe myoclonic epilepsy in infancy,
Inborn genetic diseases, Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7,
not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167145151
- GRCh38:
- Chr2:166288641
| SCN1A-AS1, SCN9A | | Inborn genetic diseases, not provided, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A,
Generalized epilepsy with febrile seizures plus, type 7 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167099101
- GRCh38:
- Chr2:166242591
| SCN1A-AS1, SCN9A | N1169D, N1180D | Primary erythromelalgia, Neuropathy, hereditary sensory and autonomic, type 2A, Paroxysmal extreme pain disorder,
Generalized epilepsy with febrile seizures plus, type 7, Severe myoclonic epilepsy in infancy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, not specified
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167133540
- Chr2:167129256
- GRCh38:
- Chr2:166277030
- Chr2:166272746
| SCN1A-AS1, SCN9A, SCN1A-AS1, SCN9A | M943L, V1002L | Small fiber neuropathy | Pathogenic
(Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:167099158
- GRCh38:
- Chr2:166242648
| SCN9A, SCN1A-AS1 | W1161R | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Paroxysmal extreme pain disorder, Primary erythromelalgia, not provided
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167141091
- GRCh38:
- Chr2:166284581
| SCN1A-AS1, SCN9A | G616R | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Inborn genetic diseases,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Neuropathy, hereditary sensory and autonomic, type 2A,
Paroxysmal extreme pain disorder, not provided | Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167133648
- GRCh38:
- Chr2:166277138
| SCN9A, SCN1A-AS1 | R896W, R907W | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, not provided
| Pathogenic/Likely pathogenic
(Mar 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:167144984
- GRCh38:
- Chr2:166288474
| SCN1A-AS1, SCN9A | M426K | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Paroxysmal extreme pain disorder,
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Inborn genetic diseases,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Paroxysmal extreme pain disorder,
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 7not provided,
...see more | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167129093
- GRCh38:
- Chr2:166272583
| SCN1A-AS1, SCN9A | K1045R, K1056R | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Inborn genetic diseases,
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167232495
- GRCh38:
- Chr2:166375985
| SCN9A | | Small fiber neuropathy, Primary erythromelalgia, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232480
- GRCh38:
- Chr2:166375970
| SCN9A | | Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Primary erythromelalgia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232463
- GRCh38:
- Chr2:166375953
| SCN9A | | Paroxysmal extreme pain disorder, Inherited Erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Primary erythromelalgia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232450
- GRCh38:
- Chr2:166375940
| SCN9A | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Small fiber neuropathy | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232446
- GRCh38:
- Chr2:166375936
| SCN9A | | Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Small fiber neuropathy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232439
- GRCh38:
- Chr2:166375929
| SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Inherited Erythromelalgia | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167232433
- GRCh38:
- Chr2:166375923
| SCN9A | | Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Inherited Erythromelalgia | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167232282
- GRCh38:
- Chr2:166375772
| SCN9A | | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia,
Small fiber neuropathy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167168138
- GRCh38:
- Chr2:166311628
| SCN9A | | Small fiber neuropathy, Inborn genetic diseases, not provided,
Paroxysmal extreme pain disorder, Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167168054
- GRCh38:
- Chr2:166311544
| SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, not provided,
Inborn genetic diseases, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive,
Primary erythromelalgia, Small fiber neuropathy | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167163569
- GRCh38:
- Chr2:166307059
| SCN9A | N92Y | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia,
Small fiber neuropathy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167151096
- GRCh38:
- Chr2:166294586
| SCN1A-AS1, SCN9A | | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Paroxysmal extreme pain disorder,
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Inherited Erythromelalgia,
not specified | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:167149834
- GRCh38:
- Chr2:166293324
| SCN1A-AS1, SCN9A | D338E | Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia,
Small fiber neuropathy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:167149754
- GRCh38:
- Chr2:166293244
| SCN1A-AS1, SCN9A | N365S | Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Inborn genetic diseases,
Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia,
Small fiber neuropathy | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |