| NM_001365536.1(SCN9A):c.640C>T (p.Arg214Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000552200] |
Chr2:166304286 [GRCh38]
Chr2:167160796 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2733C>T (p.Asn911=) |
single nucleotide variant |
Inborn genetic diseases [RCV002431671]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000530374] |
Chr2:166277124 [GRCh38]
Chr2:167133634 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) |
deletion |
Inborn genetic diseases [RCV003278905]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000526746]|not provided [RCV003324766] |
Chr2:166199288 [GRCh38]
Chr2:167055798 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.1454A>G (p.Gln485Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004659103]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000526800] |
Chr2:166286484 [GRCh38]
Chr2:167142994 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3288C>T (p.Ser1096=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448750]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000551826] |
Chr2:166272462 [GRCh38]
Chr2:167128972 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2924A>G (p.Asn975Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000544354] |
Chr2:166272826 [GRCh38]
Chr2:167129336 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1549G>A (p.Gly517Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000547767] |
Chr2:166286389 [GRCh38]
Chr2:167142899 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5197C>T (p.Pro1733Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000527550] |
Chr2:166199442 [GRCh38]
Chr2:167055952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.856T>A (p.Leu286Ile) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001783055]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000530073] |
Chr2:166303135 [GRCh38]
Chr2:167159645 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000529129]|Primary erythromelalgia [RCV000765530] |
Chr2:166305835 [GRCh38]
Chr2:167162345 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3289G>A (p.Asp1097Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001319877]|not provided [RCV000521825] |
Chr2:166272461 [GRCh38]
Chr2:167128971 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.966-2A>G |
single nucleotide variant |
not provided [RCV000523928] |
Chr2:166293374 [GRCh38]
Chr2:167149884 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_166227650)_(166227743_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000533008] |
Chr2:166227650..166227743 [GRCh38]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.417C>A (p.Asn139Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002329224]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001851458]|not specified [RCV000516788] |
Chr2:166306560 [GRCh38]
Chr2:167163070 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.745A>T (p.Met249Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000530837] |
Chr2:166303246 [GRCh38]
Chr2:167159756 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2128T>C (p.Cys710Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000528338] |
Chr2:166280572 [GRCh38]
Chr2:167137082 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4430A>T (p.Glu1477Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000532360] |
Chr2:166204433 [GRCh38]
Chr2:167060943 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3868C>T (p.Arg1290Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000546049]|not provided [RCV003139847] |
Chr2:166233396 [GRCh38]
Chr2:167089906 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3400_3405dup (p.Pro1135_Gly1136insLeuPro) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000549835] |
Chr2:166251831..166251832 [GRCh38]
Chr2:167108341..167108342 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000311897]|Inborn genetic diseases [RCV002415425]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000476046]|Paroxysmal extreme pain disorder [RCV000393721]|Primary erythromelalgia [RCV000191125]|Small fiber neuropathy [RCV000023302]|not provided [RCV001546748]|not specified [RCV000118297] |
Chr2:166280508 [GRCh38]
Chr2:167137018 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1867G>A (p.Asp623Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002513185]|Small fiber neuropathy [RCV000023303] |
Chr2:166284560 [GRCh38]
Chr2:167141070 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys) |
single nucleotide variant |
Primary erythromelalgia [RCV000020510] |
Chr2:166288566 [GRCh38]
Chr2:167145076 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001136466]|Inherited Erythromelalgia [RCV000314793]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000474864]|Paroxysmal extreme pain disorder [RCV001136467]|Primary erythromelalgia [RCV000020511]|not provided [RCV000713167]|not specified [RCV000118296] |
Chr2:166284599 [GRCh38]
Chr2:167141109 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg) |
single nucleotide variant |
Primary erythromelalgia [RCV000020512] |
Chr2:166278156 [GRCh38]
Chr2:167134666 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro) |
single nucleotide variant |
Primary erythromelalgia [RCV000020513] |
Chr2:166277237 [GRCh38]
Chr2:167133747 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001365536.1(SCN9A):c.3481= (p.Trp1161=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001079293]|Primary erythromelalgia [RCV000020514]|not provided [RCV000713170] |
Chr2:166242648 [GRCh38]
Chr2:167099158 [GRCh37]
Chr2:2q24.3 |
benign|not provided |
| NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val) |
single nucleotide variant |
Primary erythromelalgia [RCV000020515] |
Chr2:166306571 [GRCh38]
Chr2:167163081 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001365536.1(SCN9A):c.601T>G (p.Leu201Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004018649]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000688927]|Primary erythromelalgia [RCV000020516] |
Chr2:166304325 [GRCh38]
Chr2:167160835 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.616A>G (p.Asn206Asp) |
single nucleotide variant |
Primary erythromelalgia [RCV000020517] |
Chr2:166304310 [GRCh38]
Chr2:167160820 [GRCh37]
Chr2:2q24.3 |
benign|not provided |
| NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002512849]|Primary erythromelalgia [RCV000006721] |
Chr2:166277251 [GRCh38]
Chr2:167133761 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) |
single nucleotide variant |
Acute episodes of neuropathic symptoms [RCV001004018]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067998]|Primary erythromelalgia [RCV000006722]|SCN9A-related peripheral neuropathies associated with increased pain [RCV001270748]|not provided [RCV001781194] |
Chr2:166277281 [GRCh38]
Chr2:167133791 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) |
single nucleotide variant |
Primary erythromelalgia [RCV000006723] |
Chr2:166303270 [GRCh38]
Chr2:167159780 [GRCh37]
Chr2:2q24.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) |
single nucleotide variant |
Primary erythromelalgia [RCV000006724] |
Chr2:166226587 [GRCh38]
Chr2:167083097 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000006725] |
Chr2:166286562 [GRCh38]
Chr2:167143072 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2331del (p.Ala777_Ile778insTer) |
deletion |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000006726] |
Chr2:166280369 [GRCh38]
Chr2:167136879 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000006727] |
Chr2:166277133 [GRCh38]
Chr2:167133643 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000559164]|Paroxysmal extreme pain disorder [RCV000006728]|not provided [RCV001559739] |
Chr2:166272731 [GRCh38]
Chr2:167129241 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) |
single nucleotide variant |
Paroxysmal extreme pain disorder [RCV000006729] |
Chr2:166228971 [GRCh38]
Chr2:167085481 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe) |
single nucleotide variant |
Paroxysmal extreme pain disorder [RCV000006730] |
Chr2:166228972 [GRCh38]
Chr2:167085482 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000691966]|Paroxysmal extreme pain disorder [RCV000006731]|not provided [RCV001090456] |
Chr2:166228969 [GRCh38]
Chr2:167085479 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002512850]|Paroxysmal extreme pain disorder [RCV000006732] |
Chr2:166204448 [GRCh38]
Chr2:167060958 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile) |
single nucleotide variant |
Paroxysmal extreme pain disorder [RCV000006733] |
Chr2:166204439 [GRCh38]
Chr2:167060949 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000006734]|Inborn genetic diseases [RCV002426494]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001383702] |
Chr2:166303162 [GRCh38]
Chr2:167159672 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000006735]|not provided [RCV002281698] |
Chr2:166293354 [GRCh38]
Chr2:167149864 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) |
single nucleotide variant |
Primary erythromelalgia [RCV000006736] |
Chr2:166277252 [GRCh38]
Chr2:167133762 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser) |
single nucleotide variant |
Primary erythromelalgia [RCV000006737] |
Chr2:166304279 [GRCh38]
Chr2:167160789 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV000006738]|Inborn genetic diseases [RCV002408454]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000557785]|Primary erythromelalgia [RCV001535456] |
Chr2:166284506 [GRCh38]
Chr2:167141016 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133029]|Generalized epilepsy with febrile seizures plus, type 7 [RCV000006739]|Global developmental delay [RCV000415152]|Inborn genetic diseases [RCV002415403]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001083774]|Paroxysmal extreme pain disorder [RCV001133030]|Primary erythromelalgia [RCV001133028]|SCN9A-related disorder [RCV004532301]|not provided [RCV000488281]|not specified [RCV000153918] |
Chr2:166281786 [GRCh38]
Chr2:167138296 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) |
single nucleotide variant |
Febrile seizures, familial, 3b [RCV000006740]|Inborn genetic diseases [RCV002408455]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000555200]|Primary erythromelalgia [RCV000765531]|not provided [RCV000215091]|not specified [RCV004525845] |
Chr2:166311573 [GRCh38]
Chr2:167168083 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.446C>A (p.Pro149Gln) |
single nucleotide variant |
Febrile seizures, familial, 3b [RCV000006741] |
Chr2:166306531 [GRCh38]
Chr2:167163041 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000309032]|Inherited Erythromelalgia [RCV000302710]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000532835]|Paroxysmal extreme pain disorder [RCV000402111]|Primary erythromelalgia [RCV000006742] |
Chr2:166311728 [GRCh38]
Chr2:167168238 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely benign |
| NM_001365536.1(SCN9A):c.2105-8T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003768177]|not provided [RCV000728146] |
Chr2:166280603 [GRCh38]
Chr2:167137113 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3484A>T (p.Arg1162Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002458683]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001870671] |
Chr2:166242645 [GRCh38]
Chr2:167099155 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5030A>T (p.Asp1677Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000534246]|not specified [RCV000517571] |
Chr2:166199609 [GRCh38]
Chr2:167056119 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1901G>T (p.Arg634Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000542956]|SCN9A-related disorder [RCV004527655] |
Chr2:166284526 [GRCh38]
Chr2:167141036 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.750C>T (p.Ile250=) |
single nucleotide variant |
Inborn genetic diseases [RCV002395432]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000545881] |
Chr2:166303241 [GRCh38]
Chr2:167159751 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4055A>C (p.Asn1352Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002530063]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000547361] |
Chr2:166228842 [GRCh38]
Chr2:167085352 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) |
deletion |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000680094]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000527936] |
Chr2:166278199..166278203 [GRCh38]
Chr2:167134709..167134713 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000550441] |
Chr2:166280376..166280377 [GRCh38]
Chr2:167136886..167136887 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5916C>T (p.Asp1972=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000528956] |
Chr2:166198723 [GRCh38]
Chr2:167055233 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.847A>T (p.Asn283Tyr) |
single nucleotide variant |
not provided [RCV000521671] |
Chr2:166303144 [GRCh38]
Chr2:167159654 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.880G>A (p.Glu294Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000544817] |
Chr2:166303111 [GRCh38]
Chr2:167159621 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655988]|Inborn genetic diseases [RCV002413370]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000544928]|Primary erythromelalgia [RCV001535614]|Primary erythromelalgia [RCV002475989]|not provided [RCV001557778] |
Chr2:166284581 [GRCh38]
Chr2:167141091 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.2004G>T (p.Arg668Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004023585]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000690911]|not provided [RCV000521779] |
Chr2:166281779 [GRCh38]
Chr2:167138289 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000549923] |
Chr2:166280590..166280591 [GRCh38]
Chr2:167137100..167137101 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2644G>C (p.Val882Leu) |
single nucleotide variant |
not specified [RCV000516260] |
Chr2:166277213 [GRCh38]
Chr2:167133723 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3975A>G (p.Leu1325=) |
single nucleotide variant |
Inborn genetic diseases [RCV002377128]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000549423]|SCN9A-related disorder [RCV004543186] |
Chr2:166228922 [GRCh38]
Chr2:167085432 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1150G>A (p.Val384Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000819836]|not specified [RCV000516329] |
Chr2:166288601 [GRCh38]
Chr2:167145111 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3271A>G (p.Ile1091Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647760]|SCN9A-related disorder [RCV004527625]|not specified [RCV000518430] |
Chr2:166272479 [GRCh38]
Chr2:167128989 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000525486]|Primary erythromelalgia [RCV000765521] |
Chr2:166198819 [GRCh38]
Chr2:167055329 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133250]|Inborn genetic diseases [RCV002431670]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001082565]|Paroxysmal extreme pain disorder [RCV001133251]|Primary erythromelalgia [RCV001133249]|SCN9A-related disorder [RCV004543185]|not provided [RCV000835459]|not specified [RCV001700212] |
Chr2:166288641 [GRCh38]
Chr2:167145151 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5256G>C (p.Val1752=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001494047] |
Chr2:166199383 [GRCh38]
Chr2:167055893 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4399-6C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002330933]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001453251] |
Chr2:166204470 [GRCh38]
Chr2:167060980 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1204G>A (p.Ala402Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002527904]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000553821] |
Chr2:166288547 [GRCh38]
Chr2:167145057 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1034A>G (p.Asp345Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000531779] |
Chr2:166293304 [GRCh38]
Chr2:167149814 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4704C>T (p.Ser1568=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341402]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000545473] |
Chr2:166204025 [GRCh38]
Chr2:167060535 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) |
single nucleotide variant |
Inborn genetic diseases [RCV002350138]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001085887]|not provided [RCV000727314]|not specified [RCV000516721] |
Chr2:166198848 [GRCh38]
Chr2:167055358 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.312T>G (p.Pro104=) |
single nucleotide variant |
Inborn genetic diseases [RCV002324018]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000547928] |
Chr2:166307021 [GRCh38]
Chr2:167163531 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh38/hg38 2q24.3(chr2:166286955-167102242)x1 |
copy number loss |
See cases [RCV000050785] |
Chr2:166286955..167102242 [GRCh38]
Chr2:167143465..167958752 [GRCh37]
Chr2:166851711..167666998 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 |
copy number loss |
See cases [RCV000051201] |
Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 |
copy number loss |
See cases [RCV000051003] |
Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:165888312-166443535)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|See cases [RCV000052699] |
Chr2:165888312..166443535 [GRCh38]
Chr2:166744822..167300045 [GRCh37]
Chr2:166453068..167008291 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 |
copy number gain |
See cases [RCV000052950] |
Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 |
copy number loss |
See cases [RCV000054119] |
Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 |
copy number loss |
See cases [RCV000054122] |
Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 |
copy number loss |
See cases [RCV000054123] |
Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] |
Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:166136991-166692021)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053811]|See cases [RCV000053811] |
Chr2:166136991..166692021 [GRCh38]
Chr2:166993501..167548531 [GRCh37]
Chr2:166701747..167256777 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4856G>A (p.Arg1619Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001973891] |
Chr2:166199783 [GRCh38]
Chr2:167056293 [GRCh37]
Chr2:166764539 [NCBI36]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.830G>A (p.Arg277Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001222551] |
Chr2:166303161 [GRCh38]
Chr2:167159671 [GRCh37]
Chr2:166867917 [NCBI36]
Chr2:2q24.3 |
likely benign|uncertain significance|not provided |
| NM_002977.3(SCN9A):c.5072G>A (p.Gly1691Glu) |
single nucleotide variant |
Malignant melanoma [RCV000065165] |
Chr2:166199534 [GRCh38]
Chr2:167056044 [GRCh37]
Chr2:166764290 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_002977.3(SCN9A):c.5071G>A (p.Gly1691Arg) |
single nucleotide variant |
Malignant melanoma [RCV000065166] |
Chr2:166199535 [GRCh38]
Chr2:167056045 [GRCh37]
Chr2:166764291 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_002977.3(SCN9A):c.4404G>A (p.Lys1468=) |
single nucleotide variant |
Malignant melanoma [RCV000065167] |
Chr2:166204426 [GRCh38]
Chr2:167060936 [GRCh37]
Chr2:166769182 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_002977.3(SCN9A):c.3620G>A (p.Arg1207Lys) |
single nucleotide variant |
Malignant melanoma [RCV000065168] |
Chr2:166238242 [GRCh38]
Chr2:167094752 [GRCh37]
Chr2:166802998 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_002977.3(SCN9A):c.3155G>A (p.Gly1052Glu) |
single nucleotide variant |
Malignant melanoma [RCV000065169] |
Chr2:166272562 [GRCh38]
Chr2:167129072 [GRCh37]
Chr2:166837318 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_001365536.1(SCN9A):c.3057G>A (p.Lys1019=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002857259] |
Chr2:166272693 [GRCh38]
Chr2:167129203 [GRCh37]
Chr2:166837449 [NCBI36]
Chr2:2q24.3 |
likely benign|not provided |
| NM_002977.3(SCN9A):c.500C>T (p.Ser167Leu) |
single nucleotide variant |
Malignant melanoma [RCV000065171] |
Chr2:166305888 [GRCh38]
Chr2:167162398 [GRCh37]
Chr2:166870644 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_001365536.1(SCN9A):c.183C>T (p.Phe61=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001443705] |
Chr2:166311574 [GRCh38]
Chr2:167168084 [GRCh37]
Chr2:166876330 [NCBI36]
Chr2:2q24.3 |
likely benign|not provided |
| NM_001365536.1(SCN9A):c.4043A>G (p.Tyr1348Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002354302]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001053070]|not provided [RCV000118306] |
Chr2:166228854 [GRCh38]
Chr2:167085364 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) |
single nucleotide variant |
Autism spectrum disorder [RCV003313935]|Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000399125]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000461431]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000986924]|Paroxysmal extreme pain disorder [RCV001129274]|Primary erythromelalgia [RCV001129275]|not provided [RCV000992914]|not specified [RCV000080038] |
Chr2:166277030 [GRCh38]
Chr2:167133540 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|conflicting data from submitters |
| NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000389941]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000469131]|Paroxysmal extreme pain disorder [RCV000284177]|Primary erythromelalgia [RCV000490436]|Small fiber neuropathy [RCV000375717]|not provided [RCV000992915]|not specified [RCV000080039] |
Chr2:166272746 [GRCh38]
Chr2:167129256 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001329017]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647782]|Primary erythromelalgia [RCV003886376]|not provided [RCV000080040] |
Chr2:166198889 [GRCh38]
Chr2:167055399 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000348238]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000469934]|Paroxysmal extreme pain disorder [RCV000299018]|Primary erythromelalgia [RCV000407719]|Small fiber neuropathy [RCV000406081]|not provided [RCV004707915]|not specified [RCV000080041] |
Chr2:166198883 [GRCh38]
Chr2:167055393 [GRCh37]
Chr2:2q24.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000286417]|Inherited Erythromelalgia [RCV000372805]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001521209]|Paroxysmal extreme pain disorder [RCV000271006]|Primary erythromelalgia [RCV000341529]|not provided [RCV000713162]|not specified [RCV000118290] |
Chr2:166288632 [GRCh38]
Chr2:167145142 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000304547]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000471210]|Paroxysmal extreme pain disorder [RCV000396461]|Primary erythromelalgia [RCV000339602]|Small fiber neuropathy [RCV000400533]|not provided [RCV001711287]|not specified [RCV000118291] |
Chr2:166288596 [GRCh38]
Chr2:167145106 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000344725]|Inherited Erythromelalgia [RCV000399562]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001521208]|Paroxysmal extreme pain disorder [RCV000352364]|Primary erythromelalgia [RCV000359549]|not provided [RCV000713163]|not specified [RCV000118292] |
Chr2:166288485 [GRCh38]
Chr2:167144995 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000267710]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001521207]|Paroxysmal extreme pain disorder [RCV000282544]|Primary erythromelalgia [RCV000292831]|Small fiber neuropathy [RCV000318943]|not provided [RCV000713164]|not specified [RCV000118293] |
Chr2:166288464 [GRCh38]
Chr2:167144974 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000274821]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000472690]|Paroxysmal extreme pain disorder [RCV000296851]|Primary erythromelalgia [RCV000366951]|Small fiber neuropathy [RCV000314578]|not provided [RCV001705856]|not specified [RCV000118294] |
Chr2:166286469 [GRCh38]
Chr2:167142979 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000323339]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001514399]|Paroxysmal extreme pain disorder [RCV000380181]|Primary erythromelalgia [RCV000310588]|Small fiber neuropathy [RCV000363455]|not provided [RCV000713166]|not specified [RCV000118295] |
Chr2:166311583 [GRCh38]
Chr2:167168093 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000391236]|Childhood epilepsy with centrotemporal spikes [RCV000655986]|Inborn genetic diseases [RCV002433611]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001080160]|Paroxysmal extreme pain disorder [RCV000313714]|Primary erythromelalgia [RCV000366834]|Small fiber neuropathy [RCV000391228]|not provided [RCV000118298]|not specified [RCV000222414] |
Chr2:166272748 [GRCh38]
Chr2:167129258 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321597]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001079748]|SCN9A-related disorder [RCV004542854]|not provided [RCV000733530]|not specified [RCV000118299] |
Chr2:166272555 [GRCh38]
Chr2:167129065 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000360377]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000476760]|Paroxysmal extreme pain disorder [RCV000303417]|Primary erythromelalgia [RCV000264601]|Small fiber neuropathy [RCV000268136]|not provided [RCV000755628]|not specified [RCV000118300] |
Chr2:166251875 [GRCh38]
Chr2:167108385 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002453434]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001083679]|SCN9A-related disorder [RCV004542855]|not provided [RCV000118301]|not specified [RCV000517300] |
Chr2:166242620 [GRCh38]
Chr2:167099130 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000283760]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000460944]|Paroxysmal extreme pain disorder [RCV000388896]|Primary erythromelalgia [RCV000316847]|Small fiber neuropathy [RCV000278050]|not provided [RCV001618279]|not specified [RCV000118302] |
Chr2:166238220 [GRCh38]
Chr2:167094730 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000335798]|Inborn genetic diseases [RCV002345422]|Inherited Erythromelalgia [RCV000389147]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000714848]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001080021]|Paroxysmal extreme pain disorder [RCV000383539]|Primary erythromelalgia [RCV000714847]|Primary erythromelalgia [RCV000768312]|Primary erythromelalgia [RCV003224155]|Severe myoclonic epilepsy in infancy [RCV000328939]|not provided [RCV000422016]|not specified [RCV000176065] |
Chr2:166238128 [GRCh38]
Chr2:167094638 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3802-4A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000266266]|Inherited Erythromelalgia [RCV000380369]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001511351]|Paroxysmal extreme pain disorder [RCV000291623]|Primary erythromelalgia [RCV000286080]|not provided [RCV000713171]|not specified [RCV000118304] |
Chr2:166233466 [GRCh38]
Chr2:167089976 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001365536.1(SCN9A):c.3802-8T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000356696]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000461731]|Paroxysmal extreme pain disorder [RCV000311716]|Primary erythromelalgia [RCV000346519]|Small fiber neuropathy [RCV000393830]|not provided [RCV001636670]|not specified [RCV000118305] |
Chr2:166233470 [GRCh38]
Chr2:167089980 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000283990]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001520808]|Paroxysmal extreme pain disorder [RCV000400502]|Primary erythromelalgia [RCV000341457]|Small fiber neuropathy [RCV000297056]|not provided [RCV000713173]|not specified [RCV000118307] |
Chr2:166306533 [GRCh38]
Chr2:167163043 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000309081]|Inherited Erythromelalgia [RCV000391322]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001511350]|Paroxysmal extreme pain disorder [RCV000347548]|Primary erythromelalgia [RCV000405619]|not provided [RCV000713174]|not specified [RCV000118308] |
Chr2:166199827 [GRCh38]
Chr2:167056337 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001270089]|Inborn genetic diseases [RCV002336257]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000459242]|Primary erythromelalgia [RCV000765522]|not provided [RCV000118309] |
Chr2:166199819 [GRCh38]
Chr2:167056329 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131479]|Inborn genetic diseases [RCV002336258]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001086623]|Paroxysmal extreme pain disorder [RCV001131481]|Primary erythromelalgia [RCV001131480]|not provided [RCV000240565]|not specified [RCV000118310] |
Chr2:166199716 [GRCh38]
Chr2:167056226 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.688+13T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000302315]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002055798]|Paroxysmal extreme pain disorder [RCV000389992]|Primary erythromelalgia [RCV000350736]|Small fiber neuropathy [RCV000397088]|not provided [RCV004708051]|not specified [RCV000243099] |
Chr2:166304225 [GRCh38]
Chr2:167160735 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.1975-3del |
deletion |
Congenital Indifference to Pain [RCV000382735]|Febrile seizures, familial [RCV000384003]|Generalized epilepsy with febrile seizures plus [RCV000323975]|Inherited Erythromelalgia [RCV000331824]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000239857]|Paroxysmal extreme pain disorder [RCV000325888]|Severe myoclonic epilepsy in infancy [RCV000273163]|Small fiber neuropathy [RCV000286093]|not specified [RCV000174521] |
Chr2:166281811 [GRCh38]
Chr2:167138321 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NC_000002.11:g.(?_165946640)_(167168286_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001308306]|Hereditary sensory and autonomic neuropathy type IIA [RCV001324549]|not provided [RCV001300704] |
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002453606]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001082451]|not provided [RCV000713161] |
Chr2:166288642 [GRCh38]
Chr2:167145152 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002372083]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000702765]|Primary erythromelalgia [RCV000765529]|not provided [RCV000173767] |
Chr2:166288513 [GRCh38]
Chr2:167145023 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453607]|Neuropathy, hereditary sensory and autonomic, type 2A [ |
