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Items: 1 to 100 of 1176

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:155150555-176854100
GRCh38:
Chr2:154294042-175989372
ABCB11, ACVR1, ACVR1C, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BAZ2B, BAZ2B-AS1, BBS5, CCDC148, CCDC148-AS1, CD302, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CYBRD1, CYTIP, DAPL1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DPP4, DPP4-DT, DYNC1I2, ERICH2, ERICH2-DT, ERMN, FAP, FASTKD1, FIGN, FLJ46875, G6PC2, GAD1, GALNT13, GALNT3, GALNT5, GCA, GCG, GORASP2, GPD2, GPR155, GPR155-DT, GRB14, HAT1, IFIH1, ITGA6, ITGA6-AS1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KLHL23, KLHL41, LINC01124, LINC01305, LINC01806, LINC01876, LINC01960, LINC02478, LNPK, LOC100144595, LOC100506124, LOC101929512, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120624, LOC110120625, LOC110120626, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120678, LOC110120701, LOC110120708, LOC110120710, LOC110120725, LOC110120730, LOC110120736, LOC110120790, LOC110120809, LOC110121120, LOC110121216, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC114827830, LOC115945201, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC120977014, LOC120977015, LOC121725105, LOC121725106, LOC121725107, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LRP2, LY75, LY75-CD302, MAP3K20, MAP3K20-AS1, MARCHF7, METAP1D, METTL5, METTL8, MIR4774, MIR4785, MIR6888, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, NR4A2, OLA1, PDK1, PHOSPHO2, PHOSPHO2-KLHL23, PKP4, PKP4-AS1, PLA2R1, PPIG, PSMD14, RAPGEF4, RAPGEF4-AS1, RBMS1, SCN1A, SCN1A-AS1, SP5, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SLC25A12, SLC38A11, SLC4A10, SNORA70F, SNORD3K, SP3, SP9, SPC25, SSB, STK39, TANC1, TANK, TANK-AS1, TBR1, TLK1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UBR3, UPP2, WDSUB1, WIPF1, XIRP2, XIRP2-AS1
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000154177
2.
GRCh37:
Chr2:155223300-167905412
GRCh38:
Chr2:154366788-167048902
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059150
3.
GRCh37:
Chr2:159238900-167462268
GRCh38:
Chr2:158382388-166605758
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057318
4.
GRCh37:
Chr2:164311800-167818832
GRCh38:
Chr2:163455290-166962322
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060245
5.
GRCh37:
Chr2:164821892-183059789
GRCh38:
Chr2:163965382-182195062
G6PC2, LOC122847318, MIR6512, HOXD13, HOXD10, SCN1A, GORASP2, LOC122847316, LOC101927055, MIR4774, UBE2E3-DT, METTL5, HAGLROS, PDE1A, HOXD3, STK39, LOC112806060, SCN1A-AS1, LOC110120624, HOXD1, EVX2, WIPF1, LOC122861248, TLK1, LOC110121216, LOC110120678, MIR4437, CERS6-AS1, CSRNP3, LOC122847309, COBLL1, HAT1, RBM45, PPIG, LOC110120809, LOC110120626, LOC110120625, RAPGEF4, MIR7704, MIR1246, LOC122861240, LOC122847313, LOC110120790, HOXD-AS2, OSBPL6, CFAP210, MIR4444-1, DCAF17, LOC110120701, SPC25, SCHLAP1, SCN3A, LOC120977016, ITGA6, LOC122861259, NOSTRIN, LOC101929633, PDK1, LINC01960, NFE2L2, KLHL41, LINC01116, SCN2A, LNPK, CIR1, LOC122861244, LOC105373759, LOC122861260, MYO3B, LOC122861252, LOC122847311, XIRP2-AS1, LRP2, KLHL23, LOC112806059, ERICH2, LOC122861255, CERKL, PLEKHA3, LOC112806057, HOXD12, LINC01124, PHOSPHO2, HOXD4, LOC122861245, DHRS9, LOC112806063, TTC30A, GPR155-DT, SCN9A, CWC22, SCRN3, CHROMR, LOC122847312, CDCA7, SSB, ATF2, LOC122861250, UBR3, TTN-AS1, PPP1R1C, LOC122861251, LOC100506124, LOC102724058, PDE11A-AS1, LOC110120730, LOC122847315, LOC112806058, SLC25A12, LOC122847320, LOC110120628, LOC122861256, TTC21B-AS1, PDE11A, LOC401021, MIR1258, TTC21B, LOC122847308, ZNF385B, GPR155, XIRP2, ABCB11, MIR933, LOC112806062, PJVK, GALNT3, LOC120977014, LOC122861241, CHN1, LOC122861262, LOC108281145, LOC122861261, HOXD9, HOXD8, CERS6, LOC122861242, LOC120977015, MAP3K20-AS1, METTL8, LINC01305, LOC122861253, SCN7A, LOC122861243, DYNC1I2, B3GALT1, LOC122861247, TTN, B3GALT1-AS1, NEUROD1, UBE2E3, AGPS, LOC112806061, PRKRA, SP9, LOC122847317, LOC100130691, ITGA6-AS1, DLX2-DT, ITGA4, FASTKD1, CHRNA1, LINC01117, LOC121725107, LOC120977013, GAD1, LOC115945201, LOC110120627, SESTD1, HOXD11, ATP5MC3, LOC122861257, CCDC141, MYO3B-AS1, ITPRID2, GRB14, HAGLR, LOC122847319, MAP3K20, LOC122861258, LOC122847310, SNORA70F, HNRNPA3, SP3, PHOSPHO2-KLHL23, OLA1, LOC122847314, LOC110120677, SLC38A11, SNORD3K, SP5, BBS5, LOC111413009, MTX2, LOC122861249, METAP1D, CYBRD1, LOC122861254, DLX1, LINC01934, LOC122861246, LOC107126359, FKBP7, TTC30B, MIR10B, DLX2, EPCART, MIR3128, ERICH2-DT, RAPGEF4-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060248
6.
GRCh37:
Chr2:164922548-172962614
GRCh38:
Chr2:164066038-172097886
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060249
7.
GRCh37:
Chr2:165706627-176423918
GRCh38:
Chr2:164850117-175559190
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057491
8.
GRCh37:
Chr2:165777072-168392949
GRCh38:
Chr2:164920562-167536439
See casesPathogenic
(Apr 30, 2010)
no assertion criteria providedVCV000144471
9.
GRCh37:
Chr2:165946640-167143153
GRCh38:
Chr2:165090130-166286643
Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, Early infantile epileptic encephalopathy with suppression bursts
Pathogenic
(Sep 1, 2020)
criteria provided, single submitterVCV000652948
10.
GRCh37:
Chr2:165946640-167168286
GRCh38:
Chr2:165090130-166311776
Early infantile epileptic encephalopathy with suppression burstsPathogenic
(Dec 16, 2019)
criteria provided, single submitterVCV000651833
11.
GRCh37:
Chr2:165946640-167085502
GRCh38:
Chr2:165090130-166228992
Early infantile epileptic encephalopathy with suppression bursts, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Pathogenic
(Dec 14, 2017)
criteria provided, single submitterVCV000530654
12.
GRCh37:
Chr2:166079508-167521122
GRCh38:
Chr2:165222998-166664612
See casesPathogenic
(Jun 22, 2015)
no assertion criteria providedVCV000155321
13.
GRCh37:
Chr2:166094935-166971492
GRCh38:
Chr2:165238425-166114982
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, SCN1A, SCN1A-AS1, SCN2A, TTC21B, TTC21B-AS1See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000153359
14.
GRCh37:
Chr2:166152314-167108415
GRCh38:
Chr2:165295804-166251905
SCN9A, SCN1A, SCN1A-AS1, LOC102724058, SCN2A, TTC21B-AS1, CSRNP3, GALNT3, TTC21B, LOC100506124Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7, Early infantile epileptic encephalopathy with suppression bursts
Uncertain significance
(Nov 13, 2018)
criteria provided, single submitterVCV000655230
15.
GRCh37:
Chr2:166398623-166993560
GRCh38:
Chr2:165542113-166137050
CSRNP3, GALNT3, LOC100506124, LOC102724058, SCN1A, SCN1A-AS1, TTC21B, TTC21B-AS1See casesUncertain significance
(Jul 30, 2009)
no assertion criteria providedVCV000146138
16.
GRCh37:
Chr2:166399472-167008583
GRCh38:
Chr2:165542962-166152073
SCN1A-AS1, LOC100506124, TTC21B-AS1, TTC21B, LOC102724058, CSRNP3, SCN1A, GALNT3See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000058906
17.
GRCh37:
Chr2:166731245-167168286
GRCh38:
Chr2:165874735-166311776
LOC102724058, SCN9A, SCN1A-AS1, SCN1A, TTC21B, TTC21B-AS1Early infantile epileptic encephalopathy with suppression burstsPathogenic
(Nov 11, 2019)
criteria provided, single submitterVCV000471073
18.
GRCh37:
Chr2:166744822-167042321
GRCh38:
Chr2:165888312-166185811
LOC102724058, SCN1A, SCN1A-AS1, TTC21B, TTC21B-AS1See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147966
19.
GRCh37:
Chr2:166842607-167300045
GRCh38:
Chr2:165986097-166443535
LOC102724058, SCN1A, SCN1A-AS1, SCN7A, SCN9ASee casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154605
20.
GRCh37:
Chr2:166929868-167056374
GRCh38:
Chr2:166073358-166199864
SCN9A, SCN1A-AS1, SCN1AEarly infantile epileptic encephalopathy with suppression bursts, Hereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7
Uncertain significance
(Jul 5, 2018)
criteria provided, single submitterVCV000584051
21.
GRCh37:
Chr2:167051695-167060974
GRCh38:
Chr2:166195185-166204464
SCN1A-AS1, SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIAUncertain significance
(Oct 17, 2016)
criteria provided, single submitterVCV000417445
22.
GRCh37:
Chr2:167051756
GRCh38:
Chr2:166195246
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder,
Primary erythromelalgia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331895
23.
GRCh37:
Chr2:167051865
GRCh38:
Chr2:166195355
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder,
Primary erythromelalgia
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331896
24.
GRCh37:
Chr2:167051900
GRCh38:
Chr2:166195390
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000331897
25.
GRCh37:
Chr2:167051978
GRCh38:
Chr2:166195468
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894401
26.
GRCh37:
Chr2:167051980
GRCh38:
Chr2:166195470
SCN1A-AS1, SCN9APrimary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000892954
27.
GRCh37:
Chr2:167052080
GRCh38:
Chr2:166195570
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331898
28.
GRCh37:
Chr2:167052088
GRCh38:
Chr2:166195578
SCN9A, SCN1A-AS1Primary erythromelalgia, Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder
Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000892955
29.
GRCh37:
Chr2:167052129
GRCh38:
Chr2:166195619
SCN1A-AS1, SCN9APrimary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000893181
30.
GRCh37:
Chr2:167052144
GRCh38:
Chr2:166195634
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331899
31.
GRCh37:
Chr2:167052196
GRCh38:
Chr2:166195686
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331900
32.
GRCh37:
Chr2:167052237
GRCh38:
Chr2:166195727
SCN9A, SCN1A-AS1Primary erythromelalgia, Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894028
33.
GRCh37:
Chr2:167052254
GRCh38:
Chr2:166195744
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331901
34.
GRCh37:
Chr2:167052322
GRCh38:
Chr2:166195812
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331902
35.
GRCh37:
Chr2:167052328
GRCh38:
Chr2:166195818
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331903
36.
GRCh37:
Chr2:167052438
GRCh38:
Chr2:166195928
SCN1A-AS1, SCN9AFamilial febrile seizures, Congenital Indifference to Pain, Generalized epilepsy with febrile seizures plus,
Inherited Erythromelalgia, Small fiber neuropathy, Paroxysmal extreme pain disorder,
Severe myoclonic epilepsy in infancy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331904
37.
GRCh37:
Chr2:167052453
GRCh38:
Chr2:166195943
SCN9A, SCN1A-AS1Primary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000892995
38.
GRCh37:
Chr2:167052461
GRCh38:
Chr2:166195951
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331905
39.
GRCh37:
Chr2:167052505
GRCh38:
Chr2:166195995
SCN1A-AS1, SCN9APrimary erythromelalgia, Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000892996
40.
GRCh37:
Chr2:167052520
GRCh38:
Chr2:166196010
SCN1A-AS1, SCN9AInherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331906
41.
GRCh37:
Chr2:167052542
GRCh38:
Chr2:166196032
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331907
42.
GRCh37:
Chr2:167052556-167052566
GRCh38:
Chr2:166196046-166196056
SCN1A-AS1, SCN9AFamilial febrile seizures, Congenital Indifference to Pain, Inherited Erythromelalgia,
Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Paroxysmal extreme pain disorder,
Severe myoclonic epilepsy in infancy
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331908
43.
GRCh37:
Chr2:167052642
GRCh38:
Chr2:166196132
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331909
44.
GRCh37:
Chr2:167052838
GRCh38:
Chr2:166196328
SCN1A-AS1, SCN9AInherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331910
45.
GRCh37:
Chr2:167052859
GRCh38:
Chr2:166196349
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331911
46.
GRCh37:
Chr2:167052870
GRCh38:
Chr2:166196360
SCN1A-AS1, SCN9AInherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331912
47.
GRCh37:
Chr2:167052885
GRCh38:
Chr2:166196375
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331913
48.
GRCh37:
Chr2:167052954
GRCh38:
Chr2:166196444
SCN1A-AS1, SCN9AInherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000331914
49.
GRCh37:
Chr2:167052956
GRCh38:
Chr2:166196446
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331915
50.
GRCh37:
Chr2:167052960
GRCh38:
Chr2:166196450
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331916
51.
GRCh37:
Chr2:167052970
GRCh38:
Chr2:166196460
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331917
52.
GRCh37:
Chr2:167052991
GRCh38:
Chr2:166196481
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331918
53.
GRCh37:
Chr2:167053027
GRCh38:
Chr2:166196517
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331919
54.
GRCh37:
Chr2:167053028
GRCh38:
Chr2:166196518
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331920
55.
GRCh37:
Chr2:167053036
GRCh38:
Chr2:166196526
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331921
56.
GRCh37:
Chr2:167053046
GRCh38:
Chr2:166196536
SCN1A-AS1, SCN9AInherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331922
57.
GRCh37:
Chr2:167053104
GRCh38:
Chr2:166196594
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331923
58.
GRCh37:
Chr2:167053219-167053220
GRCh38:
Chr2:166196709-166196710
SCN9A, SCN1A-AS1Familial febrile seizures, Congenital Indifference to Pain, Inherited Erythromelalgia,
Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Paroxysmal extreme pain disorder,
Severe myoclonic epilepsy in infancy
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331924
59.
GRCh37:
Chr2:167053367
GRCh38:
Chr2:166196857
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Primary erythromelalgia, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894503
60.
GRCh37:
Chr2:167053386
GRCh38:
Chr2:166196876
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331925
61.
GRCh37:
Chr2:167053408
GRCh38:
Chr2:166196898
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331926
62.
GRCh37:
Chr2:167053412
GRCh38:
Chr2:166196902
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331927
63.
GRCh37:
Chr2:167053447
GRCh38:
Chr2:166196937
SCN9A, SCN1A-AS1Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia, Paroxysmal extreme pain disorder
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000893078
64.
GRCh37:
Chr2:167053522
GRCh38:
Chr2:166197012
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia,
Indifference to pain, congenital, autosomal recessive
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331928
65.
GRCh37:
Chr2:167053539
GRCh38:
Chr2:166197029
SCN1A-AS1, SCN9APrimary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Feb 2, 2018)
criteria provided, single submitterVCV000893289
66.
GRCh37:
Chr2:167053576-167053577
GRCh38:
Chr2:166197066-166197067
SCN9A, SCN1A-AS1Familial febrile seizures, Congenital Indifference to Pain, Generalized epilepsy with febrile seizures plus,
Inherited Erythromelalgia, Small fiber neuropathy, Severe myoclonic epilepsy in infancy,
Paroxysmal extreme pain disorder
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331929
67.
GRCh37:
Chr2:167053577
GRCh38:
Chr2:166197067
SCN1A-AS1, SCN9AInherited Erythromelalgia, Primary erythromelalgia, Paroxysmal extreme pain disorder,
Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331931
68.
GRCh37:
Chr2:167053577
GRCh38:
Chr2:166197067
SCN9A, SCN1A-AS1Congenital Indifference to Pain, Inherited Erythromelalgia, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331930
69.
GRCh37:
Chr2:167053690
GRCh38:
Chr2:166197180
SCN1A-AS1, SCN9ASmall fiber neuropathy, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia,
Paroxysmal extreme pain disorder
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331932
70.
GRCh37:
Chr2:167053747-167053748
GRCh38:
Chr2:166197237-166197238
SCN1A-AS1, SCN9ACongenital Indifference to Pain, Inherited Erythromelalgia, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331933
71.
GRCh37:
Chr2:167053760
GRCh38:
Chr2:166197250
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894137
72.
GRCh37:
Chr2:167053765
GRCh38:
Chr2:166197255
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894541
73.
GRCh37:
Chr2:167053799
GRCh38:
Chr2:166197289
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894542
74.
GRCh37:
Chr2:167053825
GRCh38:
Chr2:166197315
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia,
Paroxysmal extreme pain disorder
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331934
75.
GRCh37:
Chr2:167053998
GRCh38:
Chr2:166197488
SCN1A-AS1, SCN9AInherited Erythromelalgia, Primary erythromelalgia, Indifference to pain, congenital, autosomal recessive,
Paroxysmal extreme pain disorder
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331935
76.
GRCh37:
Chr2:167054063-167054064
GRCh38:
Chr2:166197553-166197554
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Congenital Indifference to Pain, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331936
77.
GRCh37:
Chr2:167054168
GRCh38:
Chr2:166197658
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Primary erythromelalgia, Indifference to pain, congenital, autosomal recessive,
Paroxysmal extreme pain disorder
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331937
78.
GRCh37:
Chr2:167054169
GRCh38:
Chr2:166197659
SCN9A, SCN1A-AS1Small fiber neuropathy, Indifference to pain, congenital, autosomal recessive, Paroxysmal extreme pain disorder,
Primary erythromelalgia
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331938
79.
GRCh37:
Chr2:167054224
GRCh38:
Chr2:166197714
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331939
80.
GRCh37:
Chr2:167054234
GRCh38:
Chr2:166197724
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331940
81.
GRCh37:
Chr2:167054262
GRCh38:
Chr2:166197752
SCN1A-AS1, SCN9ASmall fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331941
82.
GRCh37:
Chr2:167054282
GRCh38:
Chr2:166197772
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894167
83.
GRCh37:
Chr2:167054295
GRCh38:
Chr2:166197785
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894168
84.
GRCh37:
Chr2:167054347
GRCh38:
Chr2:166197837
SCN1A-AS1, SCN9AParoxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894576
85.
GRCh37:
Chr2:167054383-167054384
GRCh38:
Chr2:166197873-166197874
SCN1A-AS1, SCN9AGeneralized epilepsy with febrile seizures plus, Familial febrile seizures, Congenital Indifference to Pain,
Inherited Erythromelalgia, Small fiber neuropathy, Severe myoclonic epilepsy in infancy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331942
86.
GRCh37:
Chr2:167054397
GRCh38:
Chr2:166197887
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000331943
87.
GRCh37:
Chr2:167054409-167054410
GRCh38:
Chr2:166197899-166197900
SCN1A-AS1, SCN9ACongenital Indifference to Pain, Inherited Erythromelalgia, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331944
88.
GRCh37:
Chr2:167054513
GRCh38:
Chr2:166198003
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000331945
89.
GRCh37:
Chr2:167054652-167054653
GRCh38:
Chr2:166198142-166198143
SCN9A, SCN1A-AS1Congenital Indifference to Pain, Inherited Erythromelalgia, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331946
90.
GRCh37:
Chr2:167054691
GRCh38:
Chr2:166198181
SCN1A-AS1, SCN9AGeneralized epilepsy with febrile seizures plus, Familial febrile seizures, Congenital Indifference to Pain,
Inherited Erythromelalgia, Small fiber neuropathy, Severe myoclonic epilepsy in infancy,
Paroxysmal extreme pain disorder
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000331947
91.
GRCh37:
Chr2:167054765-167054766
GRCh38:
Chr2:166198255-166198256
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Congenital Indifference to Pain, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331948
92.
GRCh37:
Chr2:167054772
GRCh38:
Chr2:166198262
SCN9A, SCN1A-AS1Primary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000893150
93.
GRCh37:
Chr2:167054774
GRCh38:
Chr2:166198264
SCN1A-AS1, SCN9APrimary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000893151
94.
GRCh37:
Chr2:167054805
GRCh38:
Chr2:166198295
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331949
95.
GRCh37:
Chr2:167054820
GRCh38:
Chr2:166198310
SCN1A-AS1, SCN9APrimary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000893365
96.
GRCh37:
Chr2:167054934-167054935
GRCh38:
Chr2:166198424-166198425
SCN9A, SCN1A-AS1Inherited Erythromelalgia, Congenital Indifference to Pain, Small fiber neuropathy,
Paroxysmal extreme pain disorder
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000331950
97.
GRCh37:
Chr2:167054945
GRCh38:
Chr2:166198435
SCN9A, SCN1A-AS1Primary erythromelalgia, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000893366
98.
GRCh37:
Chr2:167054945
GRCh38:
Chr2:166198435
SCN9A, SCN1A-AS1Small fiber neuropathy, Paroxysmal extreme pain disorder, Indifference to pain, congenital, autosomal recessive,
Primary erythromelalgia
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000331951
99.
GRCh37:
Chr2:167054947
GRCh38:
Chr2:166198437
SCN1A-AS1, SCN9AInherited Erythromelalgia, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia,
Paroxysmal extreme pain disorder
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000331952
100.
GRCh37:
Chr2:167054956
GRCh38:
Chr2:166198446
SCN9A, SCN1A-AS1Small fiber neuropathy, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia,
Paroxysmal extreme pain disorder
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000331953
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