| 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 |
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 |
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 condition [RCV003924805]|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] |
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 condition [RCV003409806] |
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 |
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 condition [RCV003945283] |
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 condition [RCV003409738]|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 condition [RCV003960356]|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.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 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.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.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 condition [RCV003935125]|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 condition [RCV003945057]|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 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 [RCV001087581]|not provided [RCV000173768] |
Chr2:166288602 [GRCh38]
Chr2:167145112 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1314+7T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002054057]|not provided [RCV000173769] |
Chr2:166288430 [GRCh38]
Chr2:167144940 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1975-3dup |
duplication |
Congenital Indifference to Pain [RCV000274450]|Febrile seizures, familial [RCV000301438]|Generalized epilepsy with febrile seizures plus [RCV000314398]|Inherited Erythromelalgia [RCV000408317]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000240418]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000986926]|Paroxysmal extreme pain disorder [RCV000370831]|Primary erythromelalgia [RCV000490270]|Severe myoclonic epilepsy in infancy [RCV000261491]|Small fiber neuropathy [RCV000353924]|not provided [RCV000713168]|not specified [RCV000153919] |
Chr2:166281810..166281811 [GRCh38]
Chr2:167138320..167138321 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000288445]|Inherited Erythromelalgia [RCV000366775]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001085147]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001197520]|Paroxysmal extreme pain disorder [RCV000272219]|Primary erythromelalgia [RCV000327341]|not provided [RCV000513798]|not specified [RCV000174878] |
Chr2:166278265 [GRCh38]
Chr2:167134775 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000331310]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001081785]|Paroxysmal extreme pain disorder [RCV000144931]|Primary erythromelalgia [RCV000382273]|Small fiber neuropathy [RCV000144930]|not provided [RCV000421273]|not specified [RCV000178871] |
Chr2:166305834 [GRCh38]
Chr2:167162344 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000398464]|Inborn genetic diseases [RCV002415629]|Inherited Erythromelalgia [RCV000281545]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000986925]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001083229]|Paroxysmal extreme pain disorder [RCV000284837]|Primary erythromelalgia [RCV001094589]|SCN9A-related condition [RCV003935233]|Small fiber neuropathy [RCV000144932]|not provided [RCV000416064]|not specified [RCV000218739] |
Chr2:166280452 [GRCh38]
Chr2:167136962 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) |
indel |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV002267728]|Charcot-Marie-Tooth disease [RCV000790201]|Neuropathy, hereditary sensory and autonomic, type IId [RCV000144933] |
Chr2:166228871 [GRCh38]
Chr2:167085381 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 |
copy number gain |
See cases [RCV000133953] |
Chr2:164920562..167536439 [GRCh38]
Chr2:165777072..168392949 [GRCh37]
Chr2:165485318..168101195 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3157C>T (p.Leu1053Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002321690]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000692804]|not provided [RCV000175171] |
Chr2:166272593 [GRCh38]
Chr2:167129103 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655985]|Inborn genetic diseases [RCV002453614]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000540284]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001198858]|not provided [RCV000175172] |
Chr2:166272401 [GRCh38]
Chr2:167128911 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| GRCh38/hg38 2q24.3(chr2:166319464-166427533)x1 |
copy number loss |
See cases [RCV000137541] |
Chr2:166319464..166427533 [GRCh38]
Chr2:167175974..167284043 [GRCh37]
Chr2:166884220..166992289 [NCBI36]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001084262]|not provided [RCV000224392]|not specified [RCV000175302] |
Chr2:166251876 [GRCh38]
Chr2:167108386 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1 |
copy number loss |
See cases [RCV000142672] |
Chr2:165986097..166443535 [GRCh38]
Chr2:166842607..167300045 [GRCh37]
Chr2:166550853..167008291 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 |
copy number loss |
See cases [RCV000143388] |
Chr2:165222998..166664612 [GRCh38]
Chr2:166079508..167521122 [GRCh37]
Chr2:165787754..167229368 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4399-10_4399-7del |
microsatellite |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001807104]|Congenital Indifference to Pain [RCV000405665]|Inherited Erythromelalgia [RCV000264835]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001513086]|Paroxysmal extreme pain disorder [RCV000360774]|Primary erythromelalgia [RCV001807103]|Small fiber neuropathy [RCV000359605]|not provided [RCV000713172]|not specified [RCV000153913] |
Chr2:166204471..166204474 [GRCh38]
Chr2:167060981..167060984 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2105-14C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000309027]|Inherited Erythromelalgia [RCV000345278]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002056045]|Paroxysmal extreme pain disorder [RCV000264427]|Primary erythromelalgia [RCV000305661]|not provided [RCV001596978]|not specified [RCV000153916] |
Chr2:166280609 [GRCh38]
Chr2:167137119 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2105-15G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000385556]|Inherited Erythromelalgia [RCV000275871]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002056046]|Paroxysmal extreme pain disorder [RCV000372890]|Primary erythromelalgia [RCV000263173]|not provided [RCV001707538]|not specified [RCV000153917] |
Chr2:166280610 [GRCh38]
Chr2:167137120 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000334731]|Inborn genetic diseases [RCV002390339]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001083995]|Paroxysmal extreme pain disorder [RCV000279783]|Primary erythromelalgia [RCV000398826]|Small fiber neuropathy [RCV000349722]|not provided [RCV000762063]|not specified [RCV000153920] |
Chr2:166286540 [GRCh38]
Chr2:167143050 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002460053]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001086465]|SCN9A-related condition [RCV003927604]|not provided [RCV000460904]|not specified [RCV000175432] |
Chr2:166242623 [GRCh38]
Chr2:167099133 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.4413C>T (p.Asp1471=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326879]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001087392]|not provided [RCV000153912] |
Chr2:166204450 [GRCh38]
Chr2:167060960 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002453504]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001085612]|not provided [RCV000723918] |
Chr2:166251834 [GRCh38]
Chr2:167108344 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000260317]|Childhood epilepsy with centrotemporal spikes [RCV000655984]|Inborn genetic diseases [RCV002362895]|Inherited Erythromelalgia [RCV000354077]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001084299]|Paroxysmal extreme pain disorder [RCV000276938]|Primary erythromelalgia [RCV000367768]|not provided [RCV000487601]|not specified [RCV000176193] |
Chr2:166233432 [GRCh38]
Chr2:167089942 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000328181]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001082326]|Paroxysmal extreme pain disorder [RCV000368900]|Primary erythromelalgia [RCV000274659]|Small fiber neuropathy [RCV000362906]|not provided [RCV000724409] |
Chr2:166238211 [GRCh38]
Chr2:167094721 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002321697]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647757]|not provided [RCV000176293] |
Chr2:166228824 [GRCh38]
Chr2:167085334 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.688+9T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001087711]|SCN9A-related condition [RCV003927680]|not provided [RCV000179413]|not specified [RCV003330539] |
Chr2:166304229 [GRCh38]
Chr2:167160739 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133338]|Inborn genetic diseases [RCV002362922]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000540917]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001195747]|Paroxysmal extreme pain disorder [RCV001133339]|Primary erythromelalgia [RCV000515449]|Primary erythromelalgia [RCV001133337]|not provided [RCV000179414]|not specified [RCV000192901] |
Chr2:166304242 [GRCh38]
Chr2:167160752 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000288513]|Inherited Erythromelalgia [RCV000266158]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001082772]|Paroxysmal extreme pain disorder [RCV000385041]|Primary erythromelalgia [RCV000327080]|not provided [RCV000442067]|not specified [RCV000176734] |
Chr2:166198860 [GRCh38]
Chr2:167055370 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.5235C>A (p.Ile1745=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002056953]|not provided [RCV000176735] |
Chr2:166199404 [GRCh38]
Chr2:167055914 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000468766]|not provided [RCV001721110]|not specified [RCV000176475] |
Chr2:166226609 [GRCh38]
Chr2:167083119 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000329912]|Inborn genetic diseases [RCV002326962]|Inherited Erythromelalgia [RCV000269220]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001084236]|Paroxysmal extreme pain disorder [RCV000363811]|Primary erythromelalgia [RCV000274820]|not provided [RCV000724788]|not specified [RCV000245570] |
Chr2:166226651 [GRCh38]
Chr2:167083161 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000184036]|Generalized epilepsy with febrile seizures plus, type 7 [RCV001836638]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001852381] |
Chr2:166277134 [GRCh38]
Chr2:167133644 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.*2640G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000358944]|Paroxysmal extreme pain disorder [RCV000320479]|Primary erythromelalgia [RCV000371449]|Small fiber neuropathy [RCV000319290] |
Chr2:166196032 [GRCh38]
Chr2:167052542 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_002977.3(SCN9A):c.-324C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000260424]|Paroxysmal extreme pain disorder [RCV000315688]|Primary erythromelalgia [RCV000379640]|Small fiber neuropathy [RCV000355253] |
Chr2:166375970 [GRCh38]
Chr2:167232480 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*2136C>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000272494]|Inherited Erythromelalgia [RCV000362498]|Paroxysmal extreme pain disorder [RCV000324264]|Primary erythromelalgia [RCV000378866] |
Chr2:166196536 [GRCh38]
Chr2:167053046 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000356819]|Inherited Erythromelalgia [RCV000318402]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001205873]|Paroxysmal extreme pain disorder [RCV000398853]|Small fiber neuropathy [RCV000353484] |
Chr2:166304241 [GRCh38]
Chr2:167160751 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*3102C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000304979]|Inherited Erythromelalgia [RCV000320220]|Paroxysmal extreme pain disorder [RCV000261410]|Primary erythromelalgia [RCV000359735] |
Chr2:166195570 [GRCh38]
Chr2:167052080 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*948G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000322461]|Paroxysmal extreme pain disorder [RCV000316755]|Primary erythromelalgia [RCV000268608]|Small fiber neuropathy [RCV000264600] |
Chr2:166197724 [GRCh38]
Chr2:167054234 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*2986T>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000356580]|Inherited Erythromelalgia [RCV000341523]|Paroxysmal extreme pain disorder [RCV000301676]|Primary erythromelalgia [RCV000261600] |
Chr2:166195686 [GRCh38]
Chr2:167052196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000261894]|Inborn genetic diseases [RCV002348075]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000556960]|Paroxysmal extreme pain disorder [RCV000322675]|Primary erythromelalgia [RCV000268698]|Small fiber neuropathy [RCV000267598]|not provided [RCV001697825] |
Chr2:166238094 [GRCh38]
Chr2:167094604 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*217G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000264874]|Paroxysmal extreme pain disorder [RCV000310836]|Primary erythromelalgia [RCV000270973]|Small fiber neuropathy [RCV000304876] |
Chr2:166198455 [GRCh38]
Chr2:167054965 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2874+13del |
deletion |
Congenital Indifference to Pain [RCV000268373]|Inherited Erythromelalgia [RCV000323457]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002057586]|Paroxysmal extreme pain disorder [RCV000272306]|Small fiber neuropathy [RCV000308433] |
Chr2:166276970 [GRCh38]
Chr2:167133480 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*235T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000326375]|Inherited Erythromelalgia [RCV000271371]|Paroxysmal extreme pain disorder [RCV000384302]|Primary erythromelalgia [RCV000380985] |
Chr2:166198437 [GRCh38]
Chr2:167054947 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.-126G>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000386107]|Paroxysmal extreme pain disorder [RCV000354249]|Primary erythromelalgia [RCV000261895]|Small fiber neuropathy [RCV000267599] |
Chr2:166375772 [GRCh38]
Chr2:167232282 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503+8_4503+9insT |
insertion |
Congenital Indifference to Pain [RCV000319882]|Febrile seizures, familial [RCV000372277]|Generalized epilepsy with febrile seizures plus [RCV000277287]|Inherited Erythromelalgia [RCV000369517]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647819]|Paroxysmal extreme pain disorder [RCV000262360]|Severe myoclonic epilepsy in infancy [RCV000368712]|Small fiber neuropathy [RCV000311295] |
Chr2:166204351..166204352 [GRCh38]
Chr2:167060861..167060862 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*669A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000271307]|Paroxysmal extreme pain disorder [RCV000390545]|Primary erythromelalgia [RCV000301733]|Small fiber neuropathy [RCV000365812] |
Chr2:166198003 [GRCh38]
Chr2:167054513 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*377C>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000323289]|Paroxysmal extreme pain disorder [RCV000372268]|Primary erythromelalgia [RCV000317648]|Small fiber neuropathy [RCV000287117] |
Chr2:166198295 [GRCh38]
Chr2:167054805 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2191G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000398622]|Paroxysmal extreme pain disorder [RCV000394741]|Primary erythromelalgia [RCV000342600]|Small fiber neuropathy [RCV000357374] |
Chr2:166196481 [GRCh38]
Chr2:167052991 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*1796C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000266558]|Inherited Erythromelalgia [RCV000316954]|Paroxysmal extreme pain disorder [RCV000263670]|Primary erythromelalgia [RCV000318792] |
Chr2:166196876 [GRCh38]
Chr2:167053386 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*2540C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000357066]|Paroxysmal extreme pain disorder [RCV000400219]|Primary erythromelalgia [RCV000304471]|Small fiber neuropathy [RCV000393187] |
Chr2:166196132 [GRCh38]
Chr2:167052642 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*125C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000378872]|Paroxysmal extreme pain disorder [RCV000286282]|Primary erythromelalgia [RCV000377270]|Small fiber neuropathy [RCV000320298] |
Chr2:166198547 [GRCh38]
Chr2:167055057 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2222T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000259724]|Inherited Erythromelalgia [RCV000374165]|Paroxysmal extreme pain disorder [RCV000264461]|Primary erythromelalgia [RCV000293690] |
Chr2:166196450 [GRCh38]
Chr2:167052960 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*237C>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000305126]|Paroxysmal extreme pain disorder [RCV000354513]|Primary erythromelalgia [RCV000397107]|Small fiber neuropathy [RCV000367053] |
Chr2:166198435 [GRCh38]
Chr2:167054945 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*1357C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000374662]|Inherited Erythromelalgia [RCV000317706]|Paroxysmal extreme pain disorder [RCV000260099]|Primary erythromelalgia [RCV000294479] |
Chr2:166197315 [GRCh38]
Chr2:167053825 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4148A>G (p.Lys1383Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000551270]|not specified [RCV000194859] |
Chr2:166228749 [GRCh38]
Chr2:167085259 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000363472]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000688718]|Paroxysmal extreme pain disorder [RCV000401490]|Primary erythromelalgia [RCV000346132]|Small fiber neuropathy [RCV000293514]|not provided [RCV000493503] |
Chr2:166284808 [GRCh38]
Chr2:167141318 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000391453]|Inherited Erythromelalgia [RCV000355550]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001079375]|Paroxysmal extreme pain disorder [RCV000370491]|Primary erythromelalgia [RCV000300749]|not provided [RCV000431378] |
Chr2:166278220 [GRCh38]
Chr2:167134730 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000393826]|Inherited Erythromelalgia [RCV000298492]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001861135]|Paroxysmal extreme pain disorder [RCV000313804]|Primary erythromelalgia [RCV000393834] |
Chr2:166251869 [GRCh38]
Chr2:167108379 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000315687]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647753]|Paroxysmal extreme pain disorder [RCV000260488]|Primary erythromelalgia [RCV000356412]|Small fiber neuropathy [RCV000306043]|not provided [RCV001770266] |
Chr2:166288543 [GRCh38]
Chr2:167145053 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000383965]|Inborn genetic diseases [RCV002328850]|Inherited Erythromelalgia [RCV000283499]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001421504]|Paroxysmal extreme pain disorder [RCV000291970]|Primary erythromelalgia [RCV000261220]|SCN9A-related condition [RCV003922425]|not provided [RCV000728379] |
Chr2:166204368 [GRCh38]
Chr2:167060878 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000375646]|Inherited Erythromelalgia [RCV000340680]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647772]|Paroxysmal extreme pain disorder [RCV000276112]|Primary erythromelalgia [RCV000376885]|not provided [RCV000412791]|not specified [RCV001001973] |
Chr2:166228953 [GRCh38]
Chr2:167085463 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3472+14T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000277664]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002057584]|Paroxysmal extreme pain disorder [RCV000354906]|Primary erythromelalgia [RCV000376405]|Small fiber neuropathy [RCV000319396] |
Chr2:166251751 [GRCh38]
Chr2:167108261 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000336874]|Inherited Erythromelalgia [RCV000376217]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000529731]|Paroxysmal extreme pain disorder [RCV000335619]|Primary erythromelalgia [RCV000401672] |
Chr2:166284589 [GRCh38]
Chr2:167141099 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000338178]|Inborn genetic diseases [RCV002328783]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001081992]|Paroxysmal extreme pain disorder [RCV000357979]|Primary erythromelalgia [RCV000391816]|Small fiber neuropathy [RCV000303154]|not provided [RCV000762060]|not specified [RCV000366144] |
Chr2:166226650 [GRCh38]
Chr2:167083160 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) |
single nucleotide variant |
Congenital Indifference to Pain [RCV000406524]|Febrile seizures, familial [RCV000309601]|Generalized epilepsy with febrile seizures plus [RCV000391416]|Inherited Erythromelalgia [RCV000366314]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000552252]|Paroxysmal extreme pain disorder [RCV000312648]|Severe myoclonic epilepsy in infancy [RCV000344487]|Small fiber neuropathy [RCV000287148] |
Chr2:166242632 [GRCh38]
Chr2:167099142 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000345922]|Inborn genetic diseases [RCV002411224]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001087572]|Paroxysmal extreme pain disorder [RCV000302532]|Primary erythromelalgia [RCV000344915]|Small fiber neuropathy [RCV000384201]|not provided [RCV000726836] |
Chr2:166281803 [GRCh38]
Chr2:167138313 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000294925]|Inborn genetic diseases [RCV002402052]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001491805]|Paroxysmal extreme pain disorder [RCV000374225]|Primary erythromelalgia [RCV000282063]|Small fiber neuropathy [RCV000372990] |
Chr2:166284714 [GRCh38]
Chr2:167141224 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) |
single nucleotide variant |
Congenital Indifference to Pain [RCV000265329]|Febrile seizures, familial [RCV000291462]|Generalized epilepsy with febrile seizures plus [RCV000344772]|Inherited Erythromelalgia [RCV000287562]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000802058]|Paroxysmal extreme pain disorder [RCV000322717]|Severe myoclonic epilepsy in infancy [RCV000383041]|Small fiber neuropathy [RCV000379641]|not provided [RCV000303336] |
Chr2:166251773 [GRCh38]
Chr2:167108283 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000374784]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000870579]|Paroxysmal extreme pain disorder [RCV000320092]|Primary erythromelalgia [RCV000350156]|Small fiber neuropathy [RCV000295204] |
Chr2:166277005 [GRCh38]
Chr2:167133515 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*1605T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000324018]|Inherited Erythromelalgia [RCV000320323]|Paroxysmal extreme pain disorder [RCV000266349]|Primary erythromelalgia [RCV000272305] |
Chr2:166197067 [GRCh38]
Chr2:167053577 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2517+6C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000310654]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000470795]|Paroxysmal extreme pain disorder [RCV000361097]|Primary erythromelalgia [RCV000266516]|Primary erythromelalgia [RCV002488704]|SCN9A-related condition [RCV003957707]|Small fiber neuropathy [RCV000302754]|not provided [RCV001718701]|not specified [RCV000418875] |
Chr2:166278134 [GRCh38]
Chr2:167134644 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.965+13T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000280489]|Inherited Erythromelalgia [RCV000385347]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002057588]|Paroxysmal extreme pain disorder [RCV000317791]|Primary erythromelalgia [RCV000349425]|not specified [RCV000436811] |
Chr2:166294586 [GRCh38]
Chr2:167151096 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000378922]|Inborn genetic diseases [RCV002392820]|Inherited Erythromelalgia [RCV000378848]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001083458]|Paroxysmal extreme pain disorder [RCV000342995]|Primary erythromelalgia [RCV000283366]|SCN9A-related condition [RCV003957529]|not provided [RCV000726661] |
Chr2:166286474 [GRCh38]
Chr2:167142984 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000269144]|Inborn genetic diseases [RCV002402051]|Inherited Erythromelalgia [RCV000326582]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000555830]|Paroxysmal extreme pain disorder [RCV000392642]|Primary erythromelalgia [RCV000367169]|not provided [RCV003326412] |
Chr2:166284634 [GRCh38]
Chr2:167141144 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.213G>A (p.Val71=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000281460]|Inborn genetic diseases [RCV002429295]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000535545]|Paroxysmal extreme pain disorder [RCV000337865]|Primary erythromelalgia [RCV000400747]|Small fiber neuropathy [RCV000312180]|not provided [RCV001577710] |
Chr2:166311544 [GRCh38]
Chr2:167168054 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2875-5del |
deletion |
Congenital Indifference to Pain [RCV000285680]|Febrile seizures, familial [RCV000381351]|Generalized epilepsy with febrile seizures plus [RCV000281873]|Inherited Erythromelalgia [RCV000324494]|Paroxysmal extreme pain disorder [RCV000289335]|Severe myoclonic epilepsy in infancy [RCV000400182]|Small fiber neuropathy [RCV000346674] |
Chr2:166272880 [GRCh38]
Chr2:167129390 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000262836]|Inborn genetic diseases [RCV002450897]|Inherited Erythromelalgia [RCV000333422]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000868455]|Paroxysmal extreme pain disorder [RCV000387938]|Primary erythromelalgia [RCV000373036] |
Chr2:166278161 [GRCh38]
Chr2:167134671 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000388140]|Inborn genetic diseases [RCV002379219]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000546843]|Paroxysmal extreme pain disorder [RCV000295951]|Primary erythromelalgia [RCV000349888]|SCN9A-related condition [RCV003972399]|Small fiber neuropathy [RCV000374375]|not provided [RCV001699462] |
Chr2:166311628 [GRCh38]
Chr2:167168138 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655987]|Inborn genetic diseases [RCV002413369]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000546296] |
Chr2:166281804 [GRCh38]
Chr2:167138314 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4176C>T (p.Val1392=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330931]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000524857] |
Chr2:166228721 [GRCh38]
Chr2:167085231 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.561G>A (p.Pro187=) |
single nucleotide variant |
Inborn genetic diseases [RCV002350327]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000544161]|Primary erythromelalgia [RCV002497166]|not provided [RCV001550863] |
Chr2:166305827 [GRCh38]
Chr2:167162337 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002399799]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000526375]|Paroxysmal extreme pain disorder [RCV003333054]|not provided [RCV000219509] |
Chr2:166284777 [GRCh38]
Chr2:167141287 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.306C>T (p.Ala102=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448749]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001461684] |
Chr2:166307027 [GRCh38]
Chr2:167163537 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4507A>T (p.Lys1503Ter) |
single nucleotide variant |
not provided [RCV000220058] |
Chr2:166204222 [GRCh38]
Chr2:167060732 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.5563G>A (p.Glu1855Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002516205]|not provided [RCV000215581] |
Chr2:166199076 [GRCh38]
Chr2:167055586 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1901G>A (p.Arg634His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647758]|not provided [RCV000220638] |
Chr2:166284526 [GRCh38]
Chr2:167141036 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3322A>G (p.Ser1108Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002516204]|not provided [RCV000215951] |
Chr2:166272428 [GRCh38]
Chr2:167128938 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000390843]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001080948]|Paroxysmal extreme pain disorder [RCV000270670]|Primary erythromelalgia [RCV000359398]|Small fiber neuropathy [RCV000271832]|not provided [RCV000514151]|not specified [RCV000222397] |
Chr2:166198928 [GRCh38]
Chr2:167055438 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1660C>A (p.Leu554Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002399800]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000541246]|not provided [RCV000222473] |
Chr2:166284767 [GRCh38]
Chr2:167141277 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5561G>A (p.Gly1854Glu) |
single nucleotide variant |
not provided [RCV000222944] |
Chr2:166199078 [GRCh38]
Chr2:167055588 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336519]|Inborn genetic diseases [RCV002381753]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000692363]|Primary erythromelalgia [RCV000765528]|not provided [RCV000221632] |
Chr2:166288471 [GRCh38]
Chr2:167144981 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.488A>G (p.Tyr163Cys) |
single nucleotide variant |
not provided [RCV000215180] |
Chr2:166305900 [GRCh38]
Chr2:167162410 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134462]|Inborn genetic diseases [RCV002338694]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001086552]|Paroxysmal extreme pain disorder [RCV001134461]|Primary erythromelalgia [RCV000307783]|SCN9A-related condition [RCV003937867]|not provided [RCV000415823]|not specified [RCV000219331] |
Chr2:166204084 [GRCh38]
Chr2:167060594 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1115G>A (p.Arg372His) |
single nucleotide variant |
Inborn genetic diseases [RCV002436054]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000801396]|not provided [RCV000757743] |
Chr2:166288636 [GRCh38]
Chr2:167145146 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) |
single nucleotide variant |
Paroxysmal extreme pain disorder [RCV000500437]|not provided [RCV000235255] |
Chr2:166199711 [GRCh38]
Chr2:167056221 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4289G>A (p.Ser1430Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000817874]|not provided [RCV000235275] |
Chr2:166226676 [GRCh38]
Chr2:167083186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5615C>T (p.Pro1872Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647754]|not provided [RCV000235306] |
Chr2:166199024 [GRCh38]
Chr2:167055534 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.431C>T (p.Thr144Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001319572]|not provided [RCV000235349] |
Chr2:166306546 [GRCh38]
Chr2:167163056 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.136G>A (p.Ala46Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001420671]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000533794]|not provided [RCV000235355] |
Chr2:166311621 [GRCh38]
Chr2:167168131 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1099T>C (p.Tyr367His) |
single nucleotide variant |
Inborn genetic diseases [RCV002450726]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000684991]|not provided [RCV000235450] |
Chr2:166293239 [GRCh38]
Chr2:167149749 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000333786]|Inborn genetic diseases [RCV002436052]|Inherited Erythromelalgia [RCV000270542]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000693754]|Paroxysmal extreme pain disorder [RCV000276463]|Primary erythromelalgia [RCV000311734]|Primary erythromelalgia [RCV003483595]|not provided [RCV000235689] |
Chr2:166307039 [GRCh38]
Chr2:167163549 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.1022A>G (p.Tyr341Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002518432]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000538607]|not provided [RCV000235703] |
Chr2:166293316 [GRCh38]
Chr2:167149826 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5251G>C (p.Val1751Leu) |
single nucleotide variant |
not provided [RCV000235785] |
Chr2:166199388 [GRCh38]
Chr2:167055898 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336522]|Inborn genetic diseases [RCV002444935]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000240437]|Primary erythromelalgia [RCV000765525]|not provided [RCV000235887] |
Chr2:166278306 [GRCh38]
Chr2:167134816 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4965G>T (p.Met1655Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000802970]|not provided [RCV000235894] |
Chr2:166199674 [GRCh38]
Chr2:167056184 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002436062]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001079212]|SCN9A-related condition [RCV003939907]|not provided [RCV000657119] |
Chr2:166272699 [GRCh38]
Chr2:167129209 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.2600G>A (p.Gly867Asp) |
single nucleotide variant |
not provided [RCV000236068] |
Chr2:166277257 [GRCh38]
Chr2:167133767 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.4904T>C (p.Phe1635Ser) |
single nucleotide variant |
not provided [RCV000236252] |
Chr2:166199735 [GRCh38]
Chr2:167056245 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.76C>T (p.Arg26Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002401920]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647770]|Primary erythromelalgia [RCV002487096]|not provided [RCV000236265] |
Chr2:166311681 [GRCh38]
Chr2:167168191 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503+1G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002327156]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000694025]|not provided [RCV000236300] |
Chr2:166204359 [GRCh38]
Chr2:167060869 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.5392G>T (p.Glu1798Ter) |
single nucleotide variant |
not provided [RCV000236372] |
Chr2:166199247 [GRCh38]
Chr2:167055757 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001838994]|Generalized epilepsy with febrile seizures plus, type 7 [RCV001838995]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000697878]|not provided [RCV000236436] |
Chr2:166204368 [GRCh38]
Chr2:167060878 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002418042]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647766]|Primary erythromelalgia [RCV002479944]|not provided [RCV000727145] |
Chr2:166281698 [GRCh38]
Chr2:167138208 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4476G>T (p.Lys1492Asn) |
single nucleotide variant |
not provided [RCV000236477] |
Chr2:166204387 [GRCh38]
Chr2:167060897 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.628G>A (p.Val210Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000705893]|not provided [RCV000236595] |
Chr2:166304298 [GRCh38]
Chr2:167160808 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5420C>G (p.Ala1807Gly) |
single nucleotide variant |
not provided [RCV000236633] |
Chr2:166199219 [GRCh38]
Chr2:167055729 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5086A>T (p.Thr1696Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001232842]|not provided [RCV000236789] |
Chr2:166199553 [GRCh38]
Chr2:167056063 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001080041]|not provided [RCV000728376] |
Chr2:166198690 [GRCh38]
Chr2:167055200 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.695A>G (p.Lys232Arg) |
single nucleotide variant |
not provided [RCV000236826] |
Chr2:166303296 [GRCh38]
Chr2:167159806 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2518-10T>G |
single nucleotide variant |
not provided [RCV000236922] |
Chr2:166277349 [GRCh38]
Chr2:167133859 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1185C>G (p.Asn395Lys) |
single nucleotide variant |
not provided [RCV000237037] |
Chr2:166288566 [GRCh38]
Chr2:167145076 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5140G>A (p.Asp1714Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002341405]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000549310]|not provided [RCV001764587] |
Chr2:166199499 [GRCh38]
Chr2:167056009 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*3282A>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000399316]|Paroxysmal extreme pain disorder [RCV000347160]|Primary erythromelalgia [RCV000311113]|Small fiber neuropathy [RCV000307555] |
Chr2:166195390 [GRCh38]
Chr2:167051900 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1566G>A (p.Arg522=) |
single nucleotide variant |
Inborn genetic diseases [RCV002404512]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000526193]|SCN9A-related condition [RCV003935487] |
Chr2:166286372 [GRCh38]
Chr2:167142882 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4364del (p.Val1455fs) |
deletion |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000578279] |
Chr2:166226601 [GRCh38]
Chr2:167083111 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4503+5A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000546380] |
Chr2:166204355 [GRCh38]
Chr2:167060865 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 |
copy number gain |
See cases [RCV000239848] |
Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3776G>T (p.Cys1259Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001367510] |
Chr2:166238119 [GRCh38]
Chr2:167094629 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*2297A>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000324675]|Paroxysmal extreme pain disorder [RCV000376947]|Primary erythromelalgia [RCV000325935]|Small fiber neuropathy [RCV000267308] |
Chr2:166196375 [GRCh38]
Chr2:167052885 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*1605del |
deletion |
Congenital Indifference to Pain [RCV000313771]|Inherited Erythromelalgia [RCV000300920]|Paroxysmal extreme pain disorder [RCV000397647]|Small fiber neuropathy [RCV000268985] |
Chr2:166197067 [GRCh38]
Chr2:167053577 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*1014G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000370774]|Inherited Erythromelalgia [RCV000332342]|Paroxysmal extreme pain disorder [RCV000291451]|Primary erythromelalgia [RCV000326355] |
Chr2:166197658 [GRCh38]
Chr2:167054168 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*2928G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000386926]|Inherited Erythromelalgia [RCV000276973]|Paroxysmal extreme pain disorder [RCV000273689]|Primary erythromelalgia [RCV000328701] |
Chr2:166195744 [GRCh38]
Chr2:167052254 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1605_*1606del |
deletion |
Congenital Indifference to Pain [RCV000336059]|Febrile seizures, familial [RCV000278700]|Generalized epilepsy with febrile seizures plus [RCV000342817]|Inherited Erythromelalgia [RCV000283097]|Paroxysmal extreme pain disorder [RCV000397622]|Severe myoclonic epilepsy in infancy [RCV000377497]|Small fiber neuropathy [RCV000378814] |
Chr2:166197066..166197067 [GRCh38]
Chr2:167053576..167053577 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_002977.3(SCN9A):c.-307G>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000399426]|Inherited Erythromelalgia [RCV000393243]|Paroxysmal extreme pain disorder [RCV000283404]|Primary erythromelalgia [RCV000307802] |
Chr2:166375953 [GRCh38]
Chr2:167232463 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000335392]|Paroxysmal extreme pain disorder [RCV000322499]|Primary erythromelalgia [RCV000373624]|Small fiber neuropathy [RCV000287405] |
Chr2:166307059 [GRCh38]
Chr2:167163569 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*2154C>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000339869]|Paroxysmal extreme pain disorder [RCV000286111]|Primary erythromelalgia [RCV000284995]|Small fiber neuropathy [RCV000336414] |
Chr2:166196518 [GRCh38]
Chr2:167053028 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*2860C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000397721]|Paroxysmal extreme pain disorder [RCV000380022]|Primary erythromelalgia [RCV000383549]|Small fiber neuropathy [RCV000340690] |
Chr2:166195812 [GRCh38]
Chr2:167052322 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.-283G>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000396347]|Inherited Erythromelalgia [RCV000299163]|Paroxysmal extreme pain disorder [RCV000286040]|Primary erythromelalgia [RCV000401223] |
Chr2:166375929 [GRCh38]
Chr2:167232439 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2721C>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000279132]|Paroxysmal extreme pain disorder [RCV000284860]|Primary erythromelalgia [RCV000336598]|Small fiber neuropathy [RCV000395211] |
Chr2:166195951 [GRCh38]
Chr2:167052461 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*1013C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000279403]|Paroxysmal extreme pain disorder [RCV000342424]|Primary erythromelalgia [RCV000404321]|Small fiber neuropathy [RCV000377310] |
Chr2:166197659 [GRCh38]
Chr2:167054169 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*2228G>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000371700]|Inherited Erythromelalgia [RCV000350580]|Paroxysmal extreme pain disorder [RCV000396045]|Primary erythromelalgia [RCV000280565] |
Chr2:166196444 [GRCh38]
Chr2:167052954 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*1492C>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000386213]|Paroxysmal extreme pain disorder [RCV000306954]|Primary erythromelalgia [RCV000279508]|Small fiber neuropathy [RCV000351500] |
Chr2:166197180 [GRCh38]
Chr2:167053690 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*2078C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000338316]|Paroxysmal extreme pain disorder [RCV000279794]|Primary erythromelalgia [RCV000294797]|Small fiber neuropathy [RCV000402971] |
Chr2:166196594 [GRCh38]
Chr2:167053104 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*3317A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000284604]|Inherited Erythromelalgia [RCV000320914]|Paroxysmal extreme pain disorder [RCV000281153]|Primary erythromelalgia [RCV000372279] |
Chr2:166195355 [GRCh38]
Chr2:167051865 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*920T>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000386300]|Paroxysmal extreme pain disorder [RCV000307487]|Primary erythromelalgia [RCV000351833]|Small fiber neuropathy [RCV000281473] |
Chr2:166197752 [GRCh38]
Chr2:167054262 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.-294T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000281178]|Paroxysmal extreme pain disorder [RCV000341898]|Primary erythromelalgia [RCV000375745]|Small fiber neuropathy [RCV000317620] |
Chr2:166375940 [GRCh38]
Chr2:167232450 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2854T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000311164]|Inherited Erythromelalgia [RCV000337355]|Paroxysmal extreme pain disorder [RCV000298332]|Primary erythromelalgia [RCV000401648] |
Chr2:166195818 [GRCh38]
Chr2:167052328 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*1184T>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000380899]|Inherited Erythromelalgia [RCV000333168]|Paroxysmal extreme pain disorder [RCV000288745]|Primary erythromelalgia [RCV000283027] |
Chr2:166197488 [GRCh38]
Chr2:167053998 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*2323G>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000379593]|Paroxysmal extreme pain disorder [RCV000399016]|Primary erythromelalgia [RCV000288613]|Small fiber neuropathy [RCV000341064] |
Chr2:166196349 [GRCh38]
Chr2:167052859 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*958C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000315200]|Inherited Erythromelalgia [RCV000368823]|Paroxysmal extreme pain disorder [RCV000311196]|Primary erythromelalgia [RCV000327960] |
Chr2:166197714 [GRCh38]
Chr2:167054224 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*3426A>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000273901]|Inherited Erythromelalgia [RCV000368490]|Paroxysmal extreme pain disorder [RCV000328915]|Primary erythromelalgia [RCV000324427] |
Chr2:166195246 [GRCh38]
Chr2:167051756 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*1770A>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000297830]|Paroxysmal extreme pain disorder [RCV000274588]|Primary erythromelalgia [RCV000394677]|Small fiber neuropathy [RCV000306019]|not provided [RCV003137932] |
Chr2:166196902 [GRCh38]
Chr2:167053412 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3003T>C (p.Tyr1001=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436084]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001463552]|not specified [RCV000253876] |
Chr2:166272747 [GRCh38]
Chr2:167129257 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.*129C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000363911]|Inherited Erythromelalgia [RCV000306861]|Paroxysmal extreme pain disorder [RCV000314833]|Primary erythromelalgia [RCV000274793] |
Chr2:166198543 [GRCh38]
Chr2:167055053 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*204G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000274558]|Inherited Erythromelalgia [RCV000335227]|Paroxysmal extreme pain disorder [RCV000326020]|Primary erythromelalgia [RCV000387665] |
Chr2:166198468 [GRCh38]
Chr2:167054978 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000389535]|Inborn genetic diseases [RCV002348074]|Inherited Erythromelalgia [RCV000332706]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001428717]|Paroxysmal extreme pain disorder [RCV000335912]|Primary erythromelalgia [RCV000318343] |
Chr2:166199260 [GRCh38]
Chr2:167055770 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*1118_*1119insCA |
insertion |
Congenital Indifference to Pain [RCV000274983]|Inherited Erythromelalgia [RCV000357016]|Paroxysmal extreme pain disorder [RCV000353605]|Small fiber neuropathy [RCV000305824] |
Chr2:166197553..166197554 [GRCh38]
Chr2:167054063..167054064 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000266453]|Inherited Erythromelalgia [RCV000361155]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001084258]|Paroxysmal extreme pain disorder [RCV000281599]|Primary erythromelalgia [RCV000326970]|not provided [RCV000514405]|not specified [RCV000244421] |
Chr2:166280510 [GRCh38]
Chr2:167137020 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001132741]|Inborn genetic diseases [RCV002450776]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000527962]|Paroxysmal extreme pain disorder [RCV001132739]|Primary erythromelalgia [RCV001132740]|Primary erythromelalgia [RCV001824712]|not provided [RCV003148696]|not specified [RCV000249295] |
Chr2:166251835 [GRCh38]
Chr2:167108345 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.2282T>A (p.Met761Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000528563] |
Chr2:166280418 [GRCh38]
Chr2:167136928 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000306280]|Inborn genetic diseases [RCV002379218]|Inherited Erythromelalgia [RCV000321651]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000545934]|Paroxysmal extreme pain disorder [RCV000269918]|SCN9A-related condition [RCV003940330]|Small fiber neuropathy [RCV000369264]|not provided [RCV002227153] |
Chr2:166286591 [GRCh38]
Chr2:167143101 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.-290T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000330524]|Paroxysmal extreme pain disorder [RCV000275464]|Primary erythromelalgia [RCV000325020]|Small fiber neuropathy [RCV000276939] |
Chr2:166375936 [GRCh38]
Chr2:167232446 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.4399-14G>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000351334]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002058128]|Paroxysmal extreme pain disorder [RCV000386082]|Primary erythromelalgia [RCV000325659]|Small fiber neuropathy [RCV000296393]|not specified [RCV000242065] |
Chr2:166204478 [GRCh38]
Chr2:167060988 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2874+11_2874+13delinsTT |
indel |
not provided [RCV001640527]|not specified [RCV000244754] |
Chr2:166276970..166276972 [GRCh38]
Chr2:167133480..167133482 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2344C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000328652]|Inherited Erythromelalgia [RCV000277176]|Paroxysmal extreme pain disorder [RCV000386663]|Primary erythromelalgia [RCV000369481] |
Chr2:166196328 [GRCh38]
Chr2:167052838 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*2744del |
deletion |
Congenital Indifference to Pain [RCV000328465]|Febrile seizures, familial [RCV000271243]|Generalized epilepsy with febrile seizures plus [RCV000368073]|Inherited Erythromelalgia [RCV000362135]|Paroxysmal extreme pain disorder [RCV000322694]|Severe myoclonic epilepsy in infancy [RCV000377051]|Small fiber neuropathy [RCV000269917] |
Chr2:166195928 [GRCh38]
Chr2:167052438 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.258+1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000552870]|not provided [RCV001311227] |
Chr2:166311498 [GRCh38]
Chr2:167168008 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.4774+16T>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001807160]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002058130]|Paroxysmal extreme pain disorder [RCV001807161]|Primary erythromelalgia [RCV001807159]|not provided [RCV001709540]|not specified [RCV000242590] |
Chr2:166203939 [GRCh38]
Chr2:167060449 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000273654]|Inherited Erythromelalgia [RCV000299739]|Paroxysmal extreme pain disorder [RCV000368455]|Primary erythromelalgia [RCV000270280] |
Chr2:166288612 [GRCh38]
Chr2:167145122 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*2155G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000313073]|Inherited Erythromelalgia [RCV000277964]|Paroxysmal extreme pain disorder [RCV000367797]|Primary erythromelalgia [RCV000329498] |
Chr2:166196517 [GRCh38]
Chr2:167053027 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.4399-17_4399-16insA |
insertion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002058129]|not specified [RCV000245241] |
Chr2:166204480..166204481 [GRCh38]
Chr2:167060990..167060991 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002448576]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647796]|Primary erythromelalgia [RCV003483652]|not provided [RCV000519445] |
Chr2:166280401 [GRCh38]
Chr2:167136911 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.*2146G>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000275838]|Inherited Erythromelalgia [RCV000300570]|Paroxysmal extreme pain disorder [RCV000311197]|Primary erythromelalgia [RCV000307597] |
Chr2:166196526 [GRCh38]
Chr2:167053036 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*1660G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000329620]|Paroxysmal extreme pain disorder [RCV000291186]|Primary erythromelalgia [RCV000327593]|Small fiber neuropathy [RCV000380829] |
Chr2:166197012 [GRCh38]
Chr2:167053522 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*529_*530del |
deletion |
Congenital Indifference to Pain [RCV000331548]|Inherited Erythromelalgia [RCV000276422]|Paroxysmal extreme pain disorder [RCV000325731]|Small fiber neuropathy [RCV000385940] |
Chr2:166198142..166198143 [GRCh38]
Chr2:167054652..167054653 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2304G>A (p.Met768Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002446483]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000239913]|not provided [RCV001509166] |
Chr2:166280396 [GRCh38]
Chr2:167136906 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000402179]|Generalized epilepsy with febrile seizures plus, type 7 [RCV001332207]|Inborn genetic diseases [RCV002450757]|Inherited Erythromelalgia [RCV000285786]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001086993]|Paroxysmal extreme pain disorder [RCV000344215]|Primary erythromelalgia [RCV000384589]|not provided [RCV000498158] |
Chr2:166278196 [GRCh38]
Chr2:167134706 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.*785C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000287909]|Paroxysmal extreme pain disorder [RCV000327929]|Primary erythromelalgia [RCV000272894]|Small fiber neuropathy [RCV000382306] |
Chr2:166197887 [GRCh38]
Chr2:167054397 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*18A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000324549]|Inherited Erythromelalgia [RCV000354679]|Paroxysmal extreme pain disorder [RCV000403477]|Primary erythromelalgia [RCV000358522] |
Chr2:166198654 [GRCh38]
Chr2:167055164 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000333798]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000865153]|Paroxysmal extreme pain disorder [RCV000368610]|Primary erythromelalgia [RCV000308517]|Small fiber neuropathy [RCV000330258]|not provided [RCV001705501]|not specified [RCV000478443] |
Chr2:166272730 [GRCh38]
Chr2:167129240 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000388955]|Inborn genetic diseases [RCV002450896]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647806]|Paroxysmal extreme pain disorder [RCV000329282]|Primary erythromelalgia [RCV000335564]|Small fiber neuropathy [RCV000293562]|not provided [RCV002472991] |
Chr2:166272407 [GRCh38]
Chr2:167128917 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000293618]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001088445]|Paroxysmal extreme pain disorder [RCV000348584]|Primary erythromelalgia [RCV000387999]|Primary erythromelalgia [RCV002502285]|SCN9A-related condition [RCV003912395]|Small fiber neuropathy [RCV000372662]|not provided [RCV000430400] |
Chr2:166280535 [GRCh38]
Chr2:167137045 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2312A>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000400656]|Inherited Erythromelalgia [RCV000312641]|Paroxysmal extreme pain disorder [RCV000301270]|Primary erythromelalgia [RCV000371364] |
Chr2:166196360 [GRCh38]
Chr2:167052870 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*124A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000288897]|Inherited Erythromelalgia [RCV000312811]|Paroxysmal extreme pain disorder [RCV000347485]|Primary erythromelalgia [RCV000290226] |
Chr2:166198548 [GRCh38]
Chr2:167055058 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*1774G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000388679]|Paroxysmal extreme pain disorder [RCV000404015]|Primary erythromelalgia [RCV000334156]|Small fiber neuropathy [RCV000289218] |
Chr2:166196898 [GRCh38]
Chr2:167053408 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000381650]|Inborn genetic diseases [RCV002392888]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000695710]|Paroxysmal extreme pain disorder [RCV000400251]|Primary erythromelalgia [RCV000289493]|Small fiber neuropathy [RCV000390435] |
Chr2:166286456 [GRCh38]
Chr2:167142966 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000295918]|Inherited Erythromelalgia [RCV000385527]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001239239]|Paroxysmal extreme pain disorder [RCV000330998]|Primary erythromelalgia [RCV000347465]|not provided [RCV001582974] |
Chr2:166288544 [GRCh38]
Chr2:167145054 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.-277C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000291679]|Inherited Erythromelalgia [RCV000389564]|Paroxysmal extreme pain disorder [RCV000326648]|Primary erythromelalgia [RCV000332653] |
Chr2:166375923 [GRCh38]
Chr2:167232433 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*2226T>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000304360]|Inherited Erythromelalgia [RCV000310155]|Paroxysmal extreme pain disorder [RCV000362401]|Primary erythromelalgia [RCV000349576] |
Chr2:166196446 [GRCh38]
Chr2:167052956 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*2212T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000344969]|Paroxysmal extreme pain disorder [RCV000294861]|Primary erythromelalgia [RCV000330013]|Small fiber neuropathy [RCV000346169] |
Chr2:166196460 [GRCh38]
Chr2:167052970 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2616_*2626del |
deletion |
Congenital Indifference to Pain [RCV000388899]|Febrile seizures, familial [RCV000331992]|Generalized epilepsy with febrile seizures plus [RCV000292544]|Inherited Erythromelalgia [RCV000383338]|Paroxysmal extreme pain disorder [RCV000344114]|Severe myoclonic epilepsy in infancy [RCV000291307]|Small fiber neuropathy [RCV000349801] |
Chr2:166196046..166196056 [GRCh38]
Chr2:167052556..167052566 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*3038C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000385957]|Inherited Erythromelalgia [RCV000389431]|Paroxysmal extreme pain disorder [RCV000346675]|Primary erythromelalgia [RCV000295071] |
Chr2:166195634 [GRCh38]
Chr2:167052144 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*2662G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000395215]|Inherited Erythromelalgia [RCV000348882]|Paroxysmal extreme pain disorder [RCV000308394]|Primary erythromelalgia [RCV000366288] |
Chr2:166196010 [GRCh38]
Chr2:167052520 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2875-6A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000297000]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002057585]|Paroxysmal extreme pain disorder [RCV000393499]|Primary erythromelalgia [RCV000393515]|Small fiber neuropathy [RCV000312086] |
Chr2:166272881 [GRCh38]
Chr2:167129391 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.1603-14dup |
duplication |
Congenital Indifference to Pain [RCV000357336]|Inherited Erythromelalgia [RCV000266043]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002057587]|Paroxysmal extreme pain disorder [RCV000358460]|Small fiber neuropathy [RCV000318934] |
Chr2:166284837..166284838 [GRCh38]
Chr2:167141347..167141348 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.*798dup |
duplication |
Congenital Indifference to Pain [RCV000301763]|Febrile seizures, familial [RCV000361680]|Generalized epilepsy with febrile seizures plus [RCV000396968]|Inherited Erythromelalgia [RCV000261231]|Paroxysmal extreme pain disorder [RCV000297667]|Severe myoclonic epilepsy in infancy [RCV000346098]|Small fiber neuropathy [RCV000358954] |
Chr2:166197873..166197874 [GRCh38]
Chr2:167054383..167054384 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000377883]|Paroxysmal extreme pain disorder [RCV000320749]|Primary erythromelalgia [RCV000355704]|Small fiber neuropathy [RCV000370748] |
Chr2:166272834 [GRCh38]
Chr2:167129344 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1434dup |
duplication |
Congenital Indifference to Pain [RCV000305048]|Inherited Erythromelalgia [RCV000310372]|Paroxysmal extreme pain disorder [RCV000345421]|Small fiber neuropathy [RCV000358620] |
Chr2:166197237..166197238 [GRCh38]
Chr2:167053747..167053748 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000302176]|Paroxysmal extreme pain disorder [RCV000337267]|Primary erythromelalgia [RCV000408353]|Small fiber neuropathy [RCV000391769] |
Chr2:166238141 [GRCh38]
Chr2:167094651 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*416dup |
duplication |
Congenital Indifference to Pain [RCV000329739]|Inherited Erythromelalgia [RCV000274625]|Paroxysmal extreme pain disorder [RCV000398126]|Small fiber neuropathy [RCV000364317] |
Chr2:166198255..166198256 [GRCh38]
Chr2:167054765..167054766 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*244_*247dup |
duplication |
Congenital Indifference to Pain [RCV000283356]|Inherited Erythromelalgia [RCV000406754]|Paroxysmal extreme pain disorder [RCV000352131]|Small fiber neuropathy [RCV000289285] |
Chr2:166198424..166198425 [GRCh38]
Chr2:167054934..167054935 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.*771_*772dup |
duplication |
Congenital Indifference to Pain [RCV000293873]|Inherited Erythromelalgia [RCV000348745]|Paroxysmal extreme pain disorder [RCV000299664]|Small fiber neuropathy [RCV000403917] |
Chr2:166197899..166197900 [GRCh38]
Chr2:167054409..167054410 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2220T>G (p.Ile740Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002429233]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806907]|not provided [RCV000726385] |
Chr2:166280480 [GRCh38]
Chr2:167136990 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1960_*1962dup |
duplication |
Congenital Indifference to Pain [RCV000364626]|Febrile seizures, familial [RCV000399974]|Generalized epilepsy with febrile seizures plus [RCV000397034]|Inherited Erythromelalgia [RCV000309914]|Paroxysmal extreme pain disorder [RCV000345173]|Severe myoclonic epilepsy in infancy [RCV000301570]|Small fiber neuropathy [RCV000361186] |
Chr2:166196709..166196710 [GRCh38]
Chr2:167053219..167053220 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321958]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001081052]|not provided [RCV000346265] |
Chr2:166228787 [GRCh38]
Chr2:167085297 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328779]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001086204]|SCN9A-related condition [RCV003957449]|not provided [RCV000725745]|not specified [RCV000313984] |
Chr2:166288574 [GRCh38]
Chr2:167145084 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.2649C>T (p.Val883=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450809]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001088990]|not provided [RCV000321143] |
Chr2:166277208 [GRCh38]
Chr2:167133718 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1975-8T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001088956]|not provided [RCV000726560]|not specified [RCV000358449] |
Chr2:166281816 [GRCh38]
Chr2:167138326 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000321126]|Paroxysmal extreme pain disorder [RCV000380393]|Primary erythromelalgia [RCV000266284]|Small fiber neuropathy [RCV000363869] |
Chr2:166293324 [GRCh38]
Chr2:167149834 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_002977.3(SCN9A):c.-339G>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000321772]|Paroxysmal extreme pain disorder [RCV000266719]|Primary erythromelalgia [RCV000291293]|Small fiber neuropathy [RCV000296489] |
Chr2:166375985 [GRCh38]
Chr2:167232495 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000399817]|Inborn genetic diseases [RCV002446593]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001225009]|Paroxysmal extreme pain disorder [RCV000348950]|Primary erythromelalgia [RCV000278940]|Small fiber neuropathy [RCV000312807] |
Chr2:166293244 [GRCh38]
Chr2:167149754 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436115]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001082809]|not provided [RCV000725858]|not specified [RCV000264476] |
Chr2:166277091 [GRCh38]
Chr2:167133601 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.2104+7A>G |
single nucleotide variant |
not provided [RCV000403977] |
Chr2:166281672 [GRCh38]
Chr2:167138182 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*491del |
deletion |
Congenital Indifference to Pain [RCV000405702]|Febrile seizures, familial [RCV000343463]|Generalized epilepsy with febrile seizures plus [RCV000403273]|Inherited Erythromelalgia [RCV000279059]|Paroxysmal extreme pain disorder [RCV000340056]|Severe myoclonic epilepsy in infancy [RCV000284797]|Small fiber neuropathy [RCV000373230] |
Chr2:166198181 [GRCh38]
Chr2:167054691 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338850]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001469643]|not provided [RCV000369808] |
Chr2:166199698 [GRCh38]
Chr2:167056208 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450829]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647809]|not specified [RCV000301644] |
Chr2:166278248 [GRCh38]
Chr2:167134758 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.23G>C (p.Gly8Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000554062] |
Chr2:166311734 [GRCh38]
Chr2:167168244 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4968C>T (p.Phe1656=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341404]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000548949] |
Chr2:166199671 [GRCh38]
Chr2:167056181 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4892G>T (p.Arg1631Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002341157]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000697748]|not provided [RCV000489681] |
Chr2:166199747 [GRCh38]
Chr2:167056257 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.861A>G (p.Glu287=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448835]|not provided [RCV000597757] |
Chr2:166303130 [GRCh38]
Chr2:167159640 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1286_1287delinsAA (p.Arg429Gln) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002525995]|not provided [RCV000487660] |
Chr2:166288464..166288465 [GRCh38]
Chr2:167144974..167144975 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1033G>C (p.Asp345His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000553377] |
Chr2:166293305 [GRCh38]
Chr2:167149815 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2853C>T (p.Val951=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438458]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000555268] |
Chr2:166277004 [GRCh38]
Chr2:167133514 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1273C>A (p.Gln425Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000531983] |
Chr2:166288478 [GRCh38]
Chr2:167144988 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5254G>C (p.Val1752Leu) |
single nucleotide variant |
not provided [RCV000488198] |
Chr2:166199385 [GRCh38]
Chr2:167055895 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.438T>C (p.Asn146=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330934]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000553920] |
Chr2:166306539 [GRCh38]
Chr2:167163049 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_167055131)_(167168316_?)dup |
duplication |
Severe myoclonic epilepsy in infancy [RCV000585871] |
Chr2:166198621..166311806 [GRCh38]
Chr2:167055131..167168316 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.*226A>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000298681]|Paroxysmal extreme pain disorder [RCV000338385]|Primary erythromelalgia [RCV000405091]|Small fiber neuropathy [RCV000351399] |
Chr2:166198446 [GRCh38]
Chr2:167054956 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4009A>C (p.Ile1337Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000558811]|not provided [RCV000520985] |
Chr2:166228888 [GRCh38]
Chr2:167085398 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5028T>C (p.Asn1676=) |
single nucleotide variant |
Inborn genetic diseases [RCV002350326]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000528625]|not specified [RCV003987600] |
Chr2:166199611 [GRCh38]
Chr2:167056121 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) |
microsatellite |
Congenital Indifference to Pain [RCV000295569]|Febrile seizures, familial [RCV000299172]|Generalized epilepsy with febrile seizures plus [RCV000352792]|Inherited Erythromelalgia [RCV000344529]|Paroxysmal extreme pain disorder [RCV000404016]|Severe myoclonic epilepsy in infancy [RCV000391544]|Small fiber neuropathy [RCV000353982] |
Chr2:166204424..166204426 [GRCh38]
Chr2:167060934..167060936 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*165_*167dup |
duplication |
Congenital Indifference to Pain [RCV000343213]|Febrile seizures, familial [RCV000405664]|Generalized epilepsy with febrile seizures plus [RCV000286011]|Inherited Erythromelalgia [RCV000404787]|Paroxysmal extreme pain disorder [RCV000373492]|Severe myoclonic epilepsy in infancy [RCV000303556]|Small fiber neuropathy [RCV000346695] |
Chr2:166198504..166198505 [GRCh38]
Chr2:167055014..167055015 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4197G>A (p.Leu1399=) |
single nucleotide variant |
Inborn genetic diseases [RCV002331010]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001458311]|not provided [RCV000598007] |
Chr2:166228700 [GRCh38]
Chr2:167085210 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.690_691delinsAT (p.Gly230_Leu231=) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000552552] |
Chr2:166303300..166303301 [GRCh38]
Chr2:167159810..167159811 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001203277]|Primary erythromelalgia [RCV000765524]|not specified [RCV000518358] |
Chr2:166242591 [GRCh38]
Chr2:167099101 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3925-13T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000341978]|Inherited Erythromelalgia [RCV000287096]|Paroxysmal extreme pain disorder [RCV000347951]|Primary erythromelalgia [RCV000406343] |
Chr2:166228985 [GRCh38]
Chr2:167085495 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5316A>C (p.Glu1772Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000552783] |
Chr2:166199323 [GRCh38]
Chr2:167055833 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002330930]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000553461]|Primary erythromelalgia [RCV001824824]|not provided [RCV001549631] |
Chr2:166251789 [GRCh38]
Chr2:167108299 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000407069]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001850784]|Paroxysmal extreme pain disorder [RCV000339988]|Primary erythromelalgia [RCV000300449]|Small fiber neuropathy [RCV000403203] |
Chr2:166272485 [GRCh38]
Chr2:167128995 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3502G>T (p.Val1168Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000532110] |
Chr2:166242627 [GRCh38]
Chr2:167099137 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.642A>G (p.Arg214=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368003]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001078827]|SCN9A-related condition [RCV003915699]|not provided [RCV000591864] |
Chr2:166304284 [GRCh38]
Chr2:167160794 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| Single allele |
deletion |
not provided [RCV000768457] |
Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5956A>G (p.Ser1986Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002358559]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000526962]|not provided [RCV003139848] |
Chr2:166198683 [GRCh38]
Chr2:167055193 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.378-10T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000530864] |
Chr2:166306609 [GRCh38]
Chr2:167163119 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2005C>T (p.Arg669Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002420307]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000704306]|not provided [RCV000523022] |
Chr2:166281778 [GRCh38]
Chr2:167138288 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5657G>A (p.Arg1886Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000554288] |
Chr2:166198982 [GRCh38]
Chr2:167055492 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3472+7C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001400596] |
Chr2:166251758 [GRCh38]
Chr2:167108268 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2422T>C (p.Trp808Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000689705]|not provided [RCV000593430] |
Chr2:166278235 [GRCh38]
Chr2:167134745 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5555A>G (p.Glu1852Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000555370] |
Chr2:166199084 [GRCh38]
Chr2:167055594 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2875-18C>T |
single nucleotide variant |
not specified [RCV000601227] |
Chr2:166272893 [GRCh38]
Chr2:167129403 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000604892]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000802734] |
Chr2:166203996 [GRCh38]
Chr2:167060506 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 |
copy number loss |
not provided [RCV000585557] |
Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1286G>A (p.Arg429His) |
single nucleotide variant |
Inborn genetic diseases [RCV002384296]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000706997]|not provided [RCV000591420] |
Chr2:166288465 [GRCh38]
Chr2:167144975 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5699A>T (p.Tyr1900Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002350328]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000532866]|not provided [RCV001755862] |
Chr2:166198940 [GRCh38]
Chr2:167055450 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.892G>A (p.Asp298Asn) |
single nucleotide variant |
not provided [RCV001509170]|not specified [RCV000414602] |
Chr2:166303099 [GRCh38]
Chr2:167159609 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131851]|Inborn genetic diseases [RCV002324017]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000559422]|Paroxysmal extreme pain disorder [RCV001131852]|Primary erythromelalgia [RCV001131850]|not provided [RCV003114672] |
Chr2:166272625 [GRCh38]
Chr2:167129135 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3285A>C (p.Glu1095Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000536942] |
Chr2:166272465 [GRCh38]
Chr2:167128975 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000824563]|Pain insensitivity [RCV000414858]|not provided [RCV002263668] |
Chr2:166284785 [GRCh38]
Chr2:167141295 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.393C>T (p.Leu131=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358556]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000534495]|not provided [RCV003437268] |
Chr2:166306584 [GRCh38]
Chr2:167163094 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.12:g.(?_165874735)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000539384] |
Chr2:165874735..166311776 [GRCh38]
Chr2:166731245..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5963A>T (p.Lys1988Ile) |
single nucleotide variant |
not provided [RCV000733424] |
Chr2:166198676 [GRCh38]
Chr2:167055186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2874+4T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002440578]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001039392]|not provided [RCV000733429] |
Chr2:166276979 [GRCh38]
Chr2:167133489 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1643G>A (p.Arg548Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002404513]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000555619] |
Chr2:166284784 [GRCh38]
Chr2:167141294 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2853C>G (p.Val951=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438457]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000540675] |
Chr2:166277004 [GRCh38]
Chr2:167133514 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.1975-10_1975-3dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000535939] |
Chr2:166281810..166281811 [GRCh38]
Chr2:167138320..167138321 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.58C>T (p.Leu20Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002358558]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000538259] |
Chr2:166311699 [GRCh38]
Chr2:167168209 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.390G>T (p.Met130Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002377127]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000560859]|not provided [RCV000756623] |
Chr2:166306587 [GRCh38]
Chr2:167163097 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1603T>G (p.Ser535Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000540771]|not provided [RCV001764586] |
Chr2:166284824 [GRCh38]
Chr2:167141334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001128932]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000540930]|Paroxysmal extreme pain disorder [RCV001128931]|Primary erythromelalgia [RCV001128930] |
Chr2:166228754 [GRCh38]
Chr2:167085264 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.377+5C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001366127]|Pain insensitivity [RCV000415348]|not provided [RCV000762064] |
Chr2:166306951 [GRCh38]
Chr2:167163461 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.1999A>G (p.Lys667Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002418237]|not specified [RCV000413160] |
Chr2:166281784 [GRCh38]
Chr2:167138294 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647773]|not provided [RCV000414021] |
Chr2:166280559 [GRCh38]
Chr2:167137069 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 |
copy number gain |
See cases [RCV000447420] |
Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4141C>A (p.Arg1381=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323642]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003105905]|not specified [RCV000430914] |
Chr2:166228756 [GRCh38]
Chr2:167085266 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2135C>T (p.Pro712Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002418244]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001371704]|not provided [RCV000442466] |
Chr2:166280565 [GRCh38]
Chr2:167137075 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5207G>C (p.Gly1736Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000702888]|not provided [RCV000434741] |
Chr2:166199432 [GRCh38]
Chr2:167055942 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3207C>T (p.His1069=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323637]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000862396]|SCN9A-related condition [RCV003942420]|not provided [RCV001721336]|not specified [RCV000438278] |
Chr2:166272543 [GRCh38]
Chr2:167129053 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436253]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001080759]|not provided [RCV000713169] |
Chr2:166272786 [GRCh38]
Chr2:167129296 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001365536.1(SCN9A):c.3228T>A (p.Gly1076=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446675]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647816]|SCN9A-related condition [RCV003942355]|not provided [RCV001720094] |
Chr2:166272522 [GRCh38]
Chr2:167129032 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2634C>T (p.Phe878=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436271]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000877209]|not specified [RCV000435382] |
Chr2:166277223 [GRCh38]
Chr2:167133733 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.467+12T>A |
single nucleotide variant |
not specified [RCV000425114] |
Chr2:166306498 [GRCh38]
Chr2:167163008 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2712G>A (p.Thr904=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429461]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000868537]|not specified [RCV000435563] |
Chr2:166277145 [GRCh38]
Chr2:167133655 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2344-20A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002061508]|not provided [RCV001702457]|not specified [RCV000428916] |
Chr2:166278333 [GRCh38]
Chr2:167134843 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2975T>C (p.Val992Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001344028]|SCN9A-related disorders [RCV001249706]|not provided [RCV000429418] |
Chr2:166272775 [GRCh38]
Chr2:167129285 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4177G>A (p.Gly1393Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001052598]|SCN9A-related condition [RCV003922695]|not provided [RCV000431693] |
Chr2:166228720 [GRCh38]
Chr2:167085230 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3540C>T (p.Asn1180=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451029]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001414447]|not specified [RCV000444490] |
Chr2:166242589 [GRCh38]
Chr2:167099099 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.798G>A (p.Leu266=) |
single nucleotide variant |
Inborn genetic diseases [RCV002418308]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000861786]|SCN9A-related condition [RCV003972654]|not specified [RCV000444711] |
Chr2:166303193 [GRCh38]
Chr2:167159703 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.902-2A>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000462867]|not provided [RCV001560199] |
Chr2:166294664 [GRCh38]
Chr2:167151174 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.2691C>T (p.Cys897=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001461619] |
Chr2:166277166 [GRCh38]
Chr2:167133676 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.12:g.(?_166195185)_(166204464_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000466638] |
Chr2:166195185..166204464 [GRCh38]
Chr2:167051695..167060974 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2129G>A (p.Cys710Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000470604]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001198009] |
Chr2:166280571 [GRCh38]
Chr2:167137081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3597C>A (p.Val1199=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341092]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000474551] |
Chr2:166242532 [GRCh38]
Chr2:167099042 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2815G>A (p.Ala939Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001851140]|not provided [RCV000483958] |
Chr2:166277042 [GRCh38]
Chr2:167133552 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002446880]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000463481]|Primary erythromelalgia [RCV000768079]|Primary erythromelalgia [RCV003224294]|not provided [RCV001755714] |
Chr2:166288474 [GRCh38]
Chr2:167144984 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5010A>G (p.Lys1670=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341093]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000456172] |
Chr2:166199629 [GRCh38]
Chr2:167056139 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000467475] |
Chr2:166198763 [GRCh38]
Chr2:167055273 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.5926A>G (p.Lys1976Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000475552] |
Chr2:166198713 [GRCh38]
Chr2:167055223 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5897_5900dup (p.Lys1968fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000464133] |
Chr2:166198738..166198739 [GRCh38]
Chr2:167055248..167055249 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002411460]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000456843] |
Chr2:166284637 [GRCh38]
Chr2:167141147 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002523312]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000460554]|not provided [RCV000730081]|not specified [RCV001002628] |
Chr2:166284713 [GRCh38]
Chr2:167141223 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.937C>G (p.Leu313Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000471877] |
Chr2:166294627 [GRCh38]
Chr2:167151137 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4621C>A (p.Gln1541Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000556379]|not provided [RCV000481260] |
Chr2:166204108 [GRCh38]
Chr2:167060618 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3467C>T (p.Thr1156Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000461004] |
Chr2:166251770 [GRCh38]
Chr2:167108280 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5817G>T (p.Glu1939Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000464843] |
Chr2:166198822 [GRCh38]
Chr2:167055332 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4205T>C (p.Val1402Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000465069] |
Chr2:166228692 [GRCh38]
Chr2:167085202 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131849]|Inborn genetic diseases [RCV002323791]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000476670]|Paroxysmal extreme pain disorder [RCV001131847]|Primary erythromelalgia [RCV001131848]|not provided [RCV003332181] |
Chr2:166272583 [GRCh38]
Chr2:167129093 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NC_000002.12:g.(?_166226547)_(166228992_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000554144] |
Chr2:166226547..166228992 [GRCh38]
Chr2:167083057..167085502 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3802-13del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002056785]|not specified [RCV000482524] |
Chr2:166233475 [GRCh38]
Chr2:167089985 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5152A>G (p.Lys1718Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000469647] |
Chr2:166199487 [GRCh38]
Chr2:167055997 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000700015]|Primary erythromelalgia [RCV001535622]|not provided [RCV000479461] |
Chr2:166277138 [GRCh38]
Chr2:167133648 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002455939]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001083029]|not provided [RCV000726838] |
Chr2:166272421 [GRCh38]
Chr2:167128931 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1729A>G (p.Ile577Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000458615] |
Chr2:166284698 [GRCh38]
Chr2:167141208 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2365G>A (p.Ala789Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000473467]|not provided [RCV001508461] |
Chr2:166278292 [GRCh38]
Chr2:167134802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3362G>C (p.Arg1121Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000466349] |
Chr2:166251875 [GRCh38]
Chr2:167108385 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2339A>G (p.Asn780Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000477516] |
Chr2:166280361 [GRCh38]
Chr2:167136871 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1304A>C (p.Glu435Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000705692]|not provided [RCV000499005] |
Chr2:166288447 [GRCh38]
Chr2:167144957 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.990T>C (p.Cys330=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383972]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001505317]|not specified [RCV000503926] |
Chr2:166293348 [GRCh38]
Chr2:167149858 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336526]|Inborn genetic diseases [RCV002367675]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000530781]|not provided [RCV000766704]|not specified [RCV000497605] |
Chr2:166304285 [GRCh38]
Chr2:167160795 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2420G>T (p.Gly807Val) |
single nucleotide variant |
not specified [RCV000502608] |
Chr2:166278237 [GRCh38]
Chr2:167134747 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4261-3T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002329202]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000525375]|not specified [RCV000500531] |
Chr2:166226707 [GRCh38]
Chr2:167083217 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 |
copy number loss |
See cases [RCV000511973] |
Chr2:166374955..169671203 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3598C>T (p.Leu1200Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001315626]|not provided [RCV000494000] |
Chr2:166242531 [GRCh38]
Chr2:167099041 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV003387863]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001385121]|not specified [RCV000506153] |
Chr2:166277336 [GRCh38]
Chr2:167133846 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001807279]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001513087]|Paroxysmal extreme pain disorder [RCV001807280]|Primary erythromelalgia [RCV001807278]|not provided [RCV001811006]|not specified [RCV001726204] |
Chr2:166242648 [GRCh38]
Chr2:167099158 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 |
copy number loss |
See cases [RCV000511424] |
Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002413359]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647785]|not provided [RCV000492905]|not specified [RCV001001938] |
Chr2:166284752 [GRCh38]
Chr2:167141262 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2566A>G (p.Ile856Val) |
single nucleotide variant |
not specified [RCV000507760] |
Chr2:166277291 [GRCh38]
Chr2:167133801 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) |
single nucleotide variant |
Paroxysmal extreme pain disorder [RCV000656134]|not provided [RCV000493039] |
Chr2:166199771 [GRCh38]
Chr2:167056281 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.153T>A (p.Ser51Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002404291]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647811]|not specified [RCV000493139] |
Chr2:166311604 [GRCh38]
Chr2:167168114 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 |
copy number loss |
See cases [RCV000511103] |
Chr2:166032047..168283204 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV000778570]|Inborn genetic diseases [RCV002456195]|Paroxysmal extreme pain disorder [RCV001129049]|Primary erythromelalgia [RCV001129048]|See cases [RCV002252165]|not provided [RCV001811060] |
Chr2:166242647 [GRCh38]
Chr2:167099157 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2047C>G (p.Pro683Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647768] |
Chr2:166281736 [GRCh38]
Chr2:167138246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5176G>T (p.Val1726Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647769] |
Chr2:166199463 [GRCh38]
Chr2:167055973 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165090130)_(166228992_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387895] |
Chr2:165090130..166228992 [GRCh38]
Chr2:165946640..167085502 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3216A>C (p.Glu1072Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647771] |
Chr2:166272534 [GRCh38]
Chr2:167129044 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.536G>A (p.Gly179Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647774] |
Chr2:166305852 [GRCh38]
Chr2:167162362 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4480C>G (p.Gln1494Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647775] |
Chr2:166204383 [GRCh38]
Chr2:167060893 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647776] |
Chr2:166284523 [GRCh38]
Chr2:167141033 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3561G>C (p.Lys1187Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647777] |
Chr2:166242568 [GRCh38]
Chr2:167099078 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1558G>C (p.Gly520Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647778] |
Chr2:166286380 [GRCh38]
Chr2:167142890 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5212T>G (p.Phe1738Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002334171]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647779] |
Chr2:166199427 [GRCh38]
Chr2:167055937 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.532G>A (p.Val178Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647780] |
Chr2:166305856 [GRCh38]
Chr2:167162366 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4189C>A (p.Leu1397Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647783] |
Chr2:166228708 [GRCh38]
Chr2:167085218 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2018A>G (p.Tyr673Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647784] |
Chr2:166281765 [GRCh38]
Chr2:167138275 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647787]|Primary erythromelalgia [RCV001171363]|not provided [RCV001311225] |
Chr2:166288553 [GRCh38]
Chr2:167145063 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001365536.1(SCN9A):c.232T>G (p.Leu78Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647790] |
Chr2:166311525 [GRCh38]
Chr2:167168035 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.361A>C (p.Lys121Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647791]|not provided [RCV001529230] |
Chr2:166306972 [GRCh38]
Chr2:167163482 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1602+5C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647792] |
Chr2:166286331 [GRCh38]
Chr2:167142841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2205G>C (p.Lys735Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002530492]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647794] |
Chr2:166280495 [GRCh38]
Chr2:167137005 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3284A>T (p.Glu1095Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647795] |
Chr2:166272466 [GRCh38]
Chr2:167128976 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4226C>T (p.Thr1409Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002331227]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647797] |
Chr2:166227704 [GRCh38]
Chr2:167084214 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.205G>A (p.Gly69Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002422362]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647798] |
Chr2:166311552 [GRCh38]
Chr2:167168062 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647800]|Primary erythromelalgia [RCV000765527]|Primary erythromelalgia [RCV001809733]|not provided [RCV000757742] |
Chr2:166284823 [GRCh38]
Chr2:167141333 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1595C>G (p.Pro532Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647801] |
Chr2:166286343 [GRCh38]
Chr2:167142853 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3302T>G (p.Met1101Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647802] |
Chr2:166272448 [GRCh38]
Chr2:167128958 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4140G>A (p.Val1380=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325287]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647803] |
Chr2:166228757 [GRCh38]
Chr2:167085267 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5334C>T (p.Asp1778=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343329]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647805] |
Chr2:166199305 [GRCh38]
Chr2:167055815 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4227G>A (p.Thr1409=) |
single nucleotide variant |
Inborn genetic diseases [RCV002331228]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001444837] |
Chr2:166227703 [GRCh38]
Chr2:167084213 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2556G>A (p.Leu852=) |
single nucleotide variant |
Inborn genetic diseases [RCV002458117]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647812] |
Chr2:166277301 [GRCh38]
Chr2:167133811 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4767C>T (p.Ser1589=) |
single nucleotide variant |
Inborn genetic diseases [RCV002334172]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001477615]|SCN9A-related condition [RCV003892469] |
Chr2:166203962 [GRCh38]
Chr2:167060472 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.126T>A (p.Asp42Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647765] |
Chr2:166311631 [GRCh38]
Chr2:167168141 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3056A>G (p.Lys1019Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002440337]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647763] |
Chr2:166272694 [GRCh38]
Chr2:167129204 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1598A>G (p.Asn533Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002397275]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647761] |
Chr2:166286340 [GRCh38]
Chr2:167142850 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2270A>G (p.Asn757Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647759] |
Chr2:166280430 [GRCh38]
Chr2:167136940 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001329016]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647756] |
Chr2:166198935 [GRCh38]
Chr2:167055445 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.900A>G (p.Arg300=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647746] |
Chr2:166303091 [GRCh38]
Chr2:167159601 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336520]|Inborn genetic diseases [RCV002397277]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647793]|not provided [RCV003140038] |
Chr2:166284683 [GRCh38]
Chr2:167141193 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5349T>C (p.Tyr1783=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343333]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647826] |
Chr2:166199290 [GRCh38]
Chr2:167055800 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000533535]|Primary erythromelalgia [RCV000765523] |
Chr2:166226597 [GRCh38]
Chr2:167083107 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1349T>C (p.Ile450Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002384197]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000560730] |
Chr2:166286589 [GRCh38]
Chr2:167143099 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596C>T (p.Ala199Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000541990] |
Chr2:166305792 [GRCh38]
Chr2:167162302 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4877G>C (p.Gly1626Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000534185] |
Chr2:166199762 [GRCh38]
Chr2:167056272 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1602+15G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002531195]|not specified [RCV000603983] |
Chr2:166286321 [GRCh38]
Chr2:167142831 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val) |
single nucleotide variant |
Paroxysmal extreme pain disorder [RCV000656132] |
Chr2:166204446 [GRCh38]
Chr2:167060956 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) |
single nucleotide variant |
Inborn genetic diseases [RCV002420489]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000535303]|Primary erythromelalgia [RCV000765526]|not provided [RCV000729429] |
Chr2:166281777 [GRCh38]
Chr2:167138287 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5746_5749delinsAACT (p.Tyr1916_Ile1917delinsAsnLeu) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000558045] |
Chr2:166198890..166198893 [GRCh38]
Chr2:167055400..167055403 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.576T>C (p.Asp192=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358557]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001088997]|not provided [RCV000841507] |
Chr2:166305812 [GRCh38]
Chr2:167162322 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.882G>A (p.Glu294=) |
single nucleotide variant |
Inborn genetic diseases [RCV002377129]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000559777] |
Chr2:166303109 [GRCh38]
Chr2:167159619 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4021A>C (p.Asn1341His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000537306] |
Chr2:166228876 [GRCh38]
Chr2:167085386 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1314+3A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000557413]|not provided [RCV001770461] |
Chr2:166288434 [GRCh38]
Chr2:167144944 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.582C>T (p.Val194=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358634]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001474539] |
Chr2:166305806 [GRCh38]
Chr2:167162316 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.966-8G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647804]|not provided [RCV001701101]|not specified [RCV000607250] |
Chr2:166293380 [GRCh38]
Chr2:167149890 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5569del (p.Asp1857fs) |
deletion |
not provided [RCV000594266] |
Chr2:166199070 [GRCh38]
Chr2:167055580 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.3328T>C (p.Ser1110Pro) |
single nucleotide variant |
Generalized non-motor (absence) seizure [RCV000626832] |
Chr2:166272422 [GRCh38]
Chr2:167128932 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2253C>T (p.Thr751=) |
single nucleotide variant |
Inborn genetic diseases [RCV002431828]|not specified [RCV000612385] |
Chr2:166280447 [GRCh38]
Chr2:167136957 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3807T>A (p.Ser1269=) |
single nucleotide variant |
not specified [RCV000615756] |
Chr2:166233457 [GRCh38]
Chr2:167089967 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3834T>G (p.Leu1278=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358687]|not specified [RCV000615759] |
Chr2:166233430 [GRCh38]
Chr2:167089940 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3573C>T (p.His1191=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002066836]|not specified [RCV000616191] |
Chr2:166242556 [GRCh38]
Chr2:167099066 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4827C>T (p.Phe1609=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341403]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000560293] |
Chr2:166199812 [GRCh38]
Chr2:167056322 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3138G>T (p.Met1046Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000537875] |
Chr2:166272612 [GRCh38]
Chr2:167129122 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1856A>C (p.His619Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002413587]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000533374] |
Chr2:166284571 [GRCh38]
Chr2:167141081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4209A>G (p.Ala1403=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000555999] |
Chr2:166227721 [GRCh38]
Chr2:167084231 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.785T>C (p.Ile262Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000560551] |
Chr2:166303206 [GRCh38]
Chr2:167159716 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2400A>G (p.Pro800=) |
single nucleotide variant |
Inborn genetic diseases [RCV002456194]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000538862] |
Chr2:166278257 [GRCh38]
Chr2:167134767 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4701C>T (p.Ile1567=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341401]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000534843] |
Chr2:166204028 [GRCh38]
Chr2:167060538 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3351+15T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002529621]|not specified [RCV000613991] |
Chr2:166272384 [GRCh38]
Chr2:167128894 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002527439]|Paroxysmal extreme pain disorder [RCV000656133] |
Chr2:166204448 [GRCh38]
Chr2:167060958 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623974]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001208470] |
Chr2:166228902 [GRCh38]
Chr2:167085412 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.965+18T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002062994]|not specified [RCV000614360] |
Chr2:166294581 [GRCh38]
Chr2:167151091 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4190T>C (p.Leu1397Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000539720] |
Chr2:166228707 [GRCh38]
Chr2:167085217 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1107+7A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001415246]|SCN9A-related condition [RCV003935726]|not specified [RCV000614417] |
Chr2:166293224 [GRCh38]
Chr2:167149734 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1331C>T (p.Ala444Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002384196]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000535866]|not provided [RCV001770462] |
Chr2:166286607 [GRCh38]
Chr2:167143117 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4293C>T (p.Leu1431=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330932]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000539941] |
Chr2:166226672 [GRCh38]
Chr2:167083182 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.-51+16458T>A |
single nucleotide variant |
not specified [RCV000609397] |
Chr2:166359239 [GRCh38]
Chr2:167215749 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 |
copy number loss |
See cases [RCV000512264] |
Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3036A>G (p.Lys1012=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438578]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000693710]|not specified [RCV000603655] |
Chr2:166272714 [GRCh38]
Chr2:167129224 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3501A>G (p.Gln1167=) |
single nucleotide variant |
Inborn genetic diseases [RCV002460102]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647767] |
Chr2:166242628 [GRCh38]
Chr2:167099138 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647781]|Primary erythromelalgia [RCV000765520] |
Chr2:166198691 [GRCh38]
Chr2:167055201 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1922A>G (p.Asn641Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003162954]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647786] |
Chr2:166284505 [GRCh38]
Chr2:167141015 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV000714798]|Inborn genetic diseases [RCV003162955]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647788]|SCN9A-related condition [RCV003424234]|not provided [RCV003227818] |
Chr2:166288616 [GRCh38]
Chr2:167145126 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5839G>C (p.Asp1947His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647789] |
Chr2:166198800 [GRCh38]
Chr2:167055310 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.689-6T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647799] |
Chr2:166303308 [GRCh38]
Chr2:167159818 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1581G>A (p.Lys527=) |
single nucleotide variant |
Inborn genetic diseases [RCV002397278]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647808] |
Chr2:166286357 [GRCh38]
Chr2:167142867 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.933T>C (p.Asp311=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369724]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647810] |
Chr2:166294631 [GRCh38]
Chr2:167151141 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5508C>A (p.Ile1836=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343330]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647813] |
Chr2:166199131 [GRCh38]
Chr2:167055641 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.822A>G (p.Lys274=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001129711]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647814]|Paroxysmal extreme pain disorder [RCV001132421]|Primary erythromelalgia [RCV001129710] |
Chr2:166303169 [GRCh38]
Chr2:167159679 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3759T>C (p.Tyr1253=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343331]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001085790]|not provided [RCV000732360] |
Chr2:166238136 [GRCh38]
Chr2:167094646 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.297T>C (p.Arg99=) |
single nucleotide variant |
Inborn genetic diseases [RCV002440338]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647817] |
Chr2:166307036 [GRCh38]
Chr2:167163546 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.237C>T (p.Asp79=) |
single nucleotide variant |
Inborn genetic diseases [RCV002458118]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647818] |
Chr2:166311520 [GRCh38]
Chr2:167168030 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.396C>T (p.Ile132=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325288]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647820] |
Chr2:166306581 [GRCh38]
Chr2:167163091 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5019T>C (p.Asp1673=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343332]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647821] |
Chr2:166199620 [GRCh38]
Chr2:167056130 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3997C>T (p.Leu1333=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358850]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647822] |
Chr2:166228900 [GRCh38]
Chr2:167085410 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1554C>T (p.Val518=) |
single nucleotide variant |
Inborn genetic diseases [RCV002397279]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001086408]|not provided [RCV000647823] |
Chr2:166286384 [GRCh38]
Chr2:167142894 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.1726A>G (p.Ser576Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002397276]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647764]|not provided [RCV001558683] |
Chr2:166284701 [GRCh38]
Chr2:167141211 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4869_4870delinsGA (p.Val1624Ile) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647762] |
Chr2:166199769..166199770 [GRCh38]
Chr2:167056279..167056280 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3217G>A (p.Asp1073Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002325286]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647755] |
Chr2:166272533 [GRCh38]
Chr2:167129043 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3121C>A (p.His1041Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647752] |
Chr2:166272629 [GRCh38]
Chr2:167129139 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4561A>G (p.Ile1521Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647751] |
Chr2:166204168 [GRCh38]
Chr2:167060678 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5161C>A (p.His1721Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647750] |
Chr2:166199478 [GRCh38]
Chr2:167055988 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2930C>G (p.Thr977Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647749]|not provided [RCV001766396] |
Chr2:166272820 [GRCh38]
Chr2:167129330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4305T>G (p.Ile1435Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647748]|not provided [RCV002060763] |
Chr2:166226660 [GRCh38]
Chr2:167083170 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1325C>T (p.Ala442Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002530491]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647747] |
Chr2:166286613 [GRCh38]
Chr2:167143123 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1348A>G (p.Ile450Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002386085]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647745] |
Chr2:166286590 [GRCh38]
Chr2:167143100 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3722T>C (p.Met1241Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000647744] |
Chr2:166238173 [GRCh38]
Chr2:167094683 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3627+8A>T |
single nucleotide variant |
not provided [RCV000513050] |
Chr2:166242494 [GRCh38]
Chr2:167099004 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.689-6T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001087424]|not provided [RCV000595225] |
Chr2:166303308 [GRCh38]
Chr2:167159818 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| NM_001365536.1(SCN9A):c.434T>C (p.Met145Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000623632]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001343005] |
Chr2:166306543 [GRCh38]
Chr2:167163053 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4802C>A (p.Thr1601Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790805] |
Chr2:166199837 [GRCh38]
Chr2:167056347 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3028A>G (p.Ile1010Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003163031]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001210899]|not provided [RCV000658271] |
Chr2:166272722 [GRCh38]
Chr2:167129232 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5834A>G (p.Lys1945Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000698271] |
Chr2:166198805 [GRCh38]
Chr2:167055315 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1818T>G (p.Ser606Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000685306] |
Chr2:166284609 [GRCh38]
Chr2:167141119 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3158T>C (p.Leu1053Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000699833] |
Chr2:166272592 [GRCh38]
Chr2:167129102 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5425C>G (p.Leu1809Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000700523]|not provided [RCV000788893] |
Chr2:166199214 [GRCh38]
Chr2:167055724 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000662201]|Febrile seizures, familial, 1 [RCV000662202]|Generalized epilepsy with febrile seizures plus, type 7 [RCV000662200]|Inborn genetic diseases [RCV002386134]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001855402]|Paroxysmal extreme pain disorder [RCV001129582]|Primary erythromelalgia [RCV000662199] |
Chr2:166288466 [GRCh38]
Chr2:167144976 [GRCh37]
Chr2:2q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2q24.3(chr2:167194939-167310265)x1 |
copy number loss |
not provided [RCV000682004] |
Chr2:167194939..167310265 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.118A>G (p.Lys40Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002343508]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000698918]|not provided [RCV002261189] |
Chr2:166311639 [GRCh38]
Chr2:167168149 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2824G>A (p.Ala942Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000698161] |
Chr2:166277033 [GRCh38]
Chr2:167133543 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.131AAG[1] (p.Glu45del) |
microsatellite |
Inborn genetic diseases [RCV002386284]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001218467]|not provided [RCV000713165] |
Chr2:166311621..166311623 [GRCh38]
Chr2:167168131..167168133 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2137T>A (p.Trp713Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000698305] |
Chr2:166280563 [GRCh38]
Chr2:167137073 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2440C>T (p.Leu814Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000700044] |
Chr2:166278217 [GRCh38]
Chr2:167134727 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2875-6_2875-5delinsG |
indel |
Inborn genetic diseases [RCV002440507]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003768076] |
Chr2:166272880..166272881 [GRCh38]
Chr2:167129390..167129391 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001129708]|Inborn genetic diseases [RCV002424587]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000686365]|Paroxysmal extreme pain disorder [RCV001129709]|Primary erythromelalgia [RCV001129707] |
Chr2:166303162 [GRCh38]
Chr2:167159672 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1900C>T (p.Arg634Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002547101]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000686484] |
Chr2:166284527 [GRCh38]
Chr2:167141037 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3212T>G (p.Met1071Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000701362] |
Chr2:166272538 [GRCh38]
Chr2:167129048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.966-10T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000701858] |
Chr2:166293382 [GRCh38]
Chr2:167149892 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2053C>T (p.Leu685Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000687573] |
Chr2:166281730 [GRCh38]
Chr2:167138240 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.296G>A (p.Arg99His) |
single nucleotide variant |
Inborn genetic diseases [RCV002440516]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000702201] |
Chr2:166307037 [GRCh38]
Chr2:167163547 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3206A>C (p.His1069Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000688071] |
Chr2:166272544 [GRCh38]
Chr2:167129054 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1480A>G (p.Lys494Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000702986] |
Chr2:166286458 [GRCh38]
Chr2:167142968 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4184G>A (p.Gly1395Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000699277]|not specified [RCV002282336] |
Chr2:166228713 [GRCh38]
Chr2:167085223 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2779G>A (p.Glu927Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000699374]|not provided [RCV003437401] |
Chr2:166277078 [GRCh38]
Chr2:167133588 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4100G>A (p.Arg1367His) |
single nucleotide variant |
Inborn genetic diseases [RCV002325356]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000686026] |
Chr2:166228797 [GRCh38]
Chr2:167085307 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3209T>C (p.Leu1070Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000686122] |
Chr2:166272541 [GRCh38]
Chr2:167129051 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000694550] |
Chr2:166278233 [GRCh38]
Chr2:167134743 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5710C>T (p.Arg1904Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000706818] |
Chr2:166198929 [GRCh38]
Chr2:167055439 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3412G>A (p.Gly1138Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000690229] |
Chr2:166251825 [GRCh38]
Chr2:167108335 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.209T>C (p.Met70Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000693018] |
Chr2:166311548 [GRCh38]
Chr2:167168058 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2326C>T (p.Leu776Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000704510] |
Chr2:166280374 [GRCh38]
Chr2:167136884 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4699A>G (p.Ile1567Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000704695] |
Chr2:166204030 [GRCh38]
Chr2:167060540 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3131C>G (p.Ala1044Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000690559] |
Chr2:166272619 [GRCh38]
Chr2:167129129 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2633T>C (p.Phe878Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000702412] |
Chr2:166277224 [GRCh38]
Chr2:167133734 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2432T>C (p.Phe811Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000705002] |
Chr2:166278225 [GRCh38]
Chr2:167134735 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1165G>A (p.Gly389Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000707696] |
Chr2:166288586 [GRCh38]
Chr2:167145096 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4739T>G (p.Ile1580Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000707482] |
Chr2:166203990 [GRCh38]
Chr2:167060500 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.759_760del (p.Phe254fs) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000691321] |
Chr2:166303231..166303232 [GRCh38]
Chr2:167159741..167159742 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4503+1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000703027] |
Chr2:166204359 [GRCh38]
Chr2:167060869 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.164C>A (p.Ala55Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000705708] |
Chr2:166311593 [GRCh38]
Chr2:167168103 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.258G>A (p.Lys86=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000705762] |
Chr2:166311499 [GRCh38]
Chr2:167168009 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000691878]|Primary erythromelalgia [RCV002499233] |
Chr2:166199231 [GRCh38]
Chr2:167055741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5144G>A (p.Cys1715Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000692142] |
Chr2:166199495 [GRCh38]
Chr2:167056005 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1314+1G>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV000778571]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000700428] |
Chr2:166288436 [GRCh38]
Chr2:167144946 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.192G>T (p.Gly64=) |
single nucleotide variant |
Inborn genetic diseases [RCV002406570]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000692371] |
Chr2:166311565 [GRCh38]
Chr2:167168075 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.944G>A (p.Cys315Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000686501] |
Chr2:166294620 [GRCh38]
Chr2:167151130 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1602+5del |
deletion |
Inborn genetic diseases [RCV002397451]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000701118] |
Chr2:166286331 [GRCh38]
Chr2:167142841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4358T>C (p.Ile1453Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002533604]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000700943]|not provided [RCV001759396] |
Chr2:166226607 [GRCh38]
Chr2:167083117 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3839A>G (p.Tyr1280Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000692540] |
Chr2:166233425 [GRCh38]
Chr2:167089935 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2922C>A (p.Asp974Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000694527] |
Chr2:166272828 [GRCh38]
Chr2:167129338 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1904C>T (p.Ser635Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000687050] |
Chr2:166284523 [GRCh38]
Chr2:167141033 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2150T>C (p.Phe717Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002534353]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000698289] |
Chr2:166280550 [GRCh38]
Chr2:167137060 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2166G>C (p.Leu722Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002422537]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000697253]|not provided [RCV001311224] |
Chr2:166280534 [GRCh38]
Chr2:167137044 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3089T>C (p.Leu1030Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002442536]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000706571] |
Chr2:166272661 [GRCh38]
Chr2:167129171 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.901+5G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002532278]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000694973] |
Chr2:166303085 [GRCh38]
Chr2:167159595 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3895A>G (p.Arg1299Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000697611] |
Chr2:166233369 [GRCh38]
Chr2:167089879 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4142G>A (p.Arg1381Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003362910]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000701982]|not provided [RCV003140111] |
Chr2:166228755 [GRCh38]
Chr2:167085265 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5555A>C (p.Glu1852Ala) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001729693]|Inborn genetic diseases [RCV002532868]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000707304] |
Chr2:166199084 [GRCh38]
Chr2:167055594 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5158G>T (p.Val1720Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000695352] |
Chr2:166199481 [GRCh38]
Chr2:167055991 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5437C>T (p.Leu1813Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000695359] |
Chr2:166199202 [GRCh38]
Chr2:167055712 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.940C>T (p.Leu314Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000707622] |
Chr2:166294624 [GRCh38]
Chr2:167151134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2147G>A (p.Arg716Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000695708] |
Chr2:166280553 [GRCh38]
Chr2:167137063 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3123T>A (p.His1041Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003258939]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000702890]|not provided [RCV003480792] |
Chr2:166272627 [GRCh38]
Chr2:167129137 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3345C>A (p.Ser1115Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000695909] |
Chr2:166272405 [GRCh38]
Chr2:167128915 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2222T>G (p.Val741Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000693906] |
Chr2:166280478 [GRCh38]
Chr2:167136988 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4953C>G (p.Leu1651=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343587]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002060892]|not provided [RCV000713175] |
Chr2:166199686 [GRCh38]
Chr2:167056196 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001420620]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000696374]|not provided [RCV001509171] |
Chr2:166305828 [GRCh38]
Chr2:167162338 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.253A>G (p.Lys85Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000696393] |
Chr2:166311504 [GRCh38]
Chr2:167168014 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3452C>A (p.Pro1151Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000685430] |
Chr2:166251785 [GRCh38]
Chr2:167108295 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166929868)_(167056374_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000708260]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001338734] |
Chr2:166073358..166199864 [GRCh38]
Chr2:166929868..167056374 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1754G>A (p.Arg585Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000696765] |
Chr2:166284673 [GRCh38]
Chr2:167141183 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3038C>T (p.Ala1013Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000686170] |
Chr2:166272712 [GRCh38]
Chr2:167129222 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4965G>A (p.Met1655Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000703478] |
Chr2:166199674 [GRCh38]
Chr2:167056184 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4139T>C (p.Val1380Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000703482] |
Chr2:166228758 [GRCh38]
Chr2:167085268 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2038C>G (p.Leu680Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000705961] |
Chr2:166281745 [GRCh38]
Chr2:167138255 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4987A>G (p.Met1663Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000696916] |
Chr2:166199652 [GRCh38]
Chr2:167056162 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2465A>C (p.Glu822Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000697021] |
Chr2:166278192 [GRCh38]
Chr2:167134702 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2577del (p.Ile859fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000697073] |
Chr2:166277280 [GRCh38]
Chr2:167133790 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.450C>A (p.Asp150Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000701194] |
Chr2:166306527 [GRCh38]
Chr2:167163037 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2316C>A (p.Phe772Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000701283]|not provided [RCV002510965] |
Chr2:166280384 [GRCh38]
Chr2:167136894 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1618C>T (p.Arg540Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000703557] |
Chr2:166284809 [GRCh38]
Chr2:167141319 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1190T>A (p.Ile397Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000703628] |
Chr2:166288561 [GRCh38]
Chr2:167145071 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 |
copy number gain |
not provided [RCV000740654] |
Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2 |
pathogenic |
| NM_001365536.1(SCN9A):c.3141C>T (p.Ser1047=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001408252] |
Chr2:166272609 [GRCh38]
Chr2:167129119 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.831A>G (p.Arg277=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000977568] |
Chr2:166303160 [GRCh38]
Chr2:167159670 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4614T>C (p.Gly1538=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001492564] |
Chr2:166204115 [GRCh38]
Chr2:167060625 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5880T>C (p.Ser1960=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000862501] |
Chr2:166198759 [GRCh38]
Chr2:167055269 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.965+10A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001505942] |
Chr2:166294589 [GRCh38]
Chr2:167151099 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.468-8G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001435920] |
Chr2:166305928 [GRCh38]
Chr2:167162438 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2133A>C (p.Pro711=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001457312] |
Chr2:166280567 [GRCh38]
Chr2:167137077 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4211C>A (p.Thr1404Asn) |
single nucleotide variant |
not provided [RCV000762061] |
Chr2:166227719 [GRCh38]
Chr2:167084229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4077T>C (p.Phe1359=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001088559]|not provided [RCV000762062] |
Chr2:166228820 [GRCh38]
Chr2:167085330 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.468-15_468-8del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001043145] |
Chr2:166305928..166305935 [GRCh38]
Chr2:167162438..167162445 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1309G>A (p.Ala437Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001866129]|not provided [RCV001586587] |
Chr2:166288442 [GRCh38]
Chr2:167144952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2440C>G (p.Leu814Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001066280] |
Chr2:166278217 [GRCh38]
Chr2:167134727 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.302A>G (p.Asn101Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002436664]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001066707] |
Chr2:166307031 [GRCh38]
Chr2:167163541 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.77G>A (p.Arg26His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001066731] |
Chr2:166311680 [GRCh38]
Chr2:167168190 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134464]|Paroxysmal extreme pain disorder [RCV001135932]|Primary erythromelalgia [RCV001134463] |
Chr2:166204422 [GRCh38]
Chr2:167060932 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.359T>C (p.Ile120Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067123] |
Chr2:166306974 [GRCh38]
Chr2:167163484 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.-42T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134933]|Paroxysmal extreme pain disorder [RCV001134934]|Primary erythromelalgia [RCV001134932] |
Chr2:166311798 [GRCh38]
Chr2:167168308 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1757G>A (p.Gly586Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001215613]|not provided [RCV000997297] |
Chr2:166284670 [GRCh38]
Chr2:167141180 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*835C>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001135592]|Paroxysmal extreme pain disorder [RCV001135591]|Primary erythromelalgia [RCV001135590] |
Chr2:166197837 [GRCh38]
Chr2:167054347 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4261-13G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002072033]|not provided [RCV001550104] |
Chr2:166226717 [GRCh38]
Chr2:167083227 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5118T>C (p.Pro1706=) |
single nucleotide variant |
not provided [RCV001666133] |
Chr2:166199521 [GRCh38]
Chr2:167056031 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.5157A>T (p.Lys1719Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001046435]|not provided [RCV002473177] |
Chr2:166199482 [GRCh38]
Chr2:167055992 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2613A>G (p.Leu871=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000877395] |
Chr2:166277244 [GRCh38]
Chr2:167133754 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2601T>A (p.Gly867=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000877396] |
Chr2:166277256 [GRCh38]
Chr2:167133766 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2475A>G (p.Leu825=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001485772] |
Chr2:166278182 [GRCh38]
Chr2:167134692 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.259-9C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001402874] |
Chr2:166307083 [GRCh38]
Chr2:167163593 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5697T>C (p.Ala1899=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001413031] |
Chr2:166198942 [GRCh38]
Chr2:167055452 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5220T>C (p.Phe1740=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001464049] |
Chr2:166199419 [GRCh38]
Chr2:167055929 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2994A>C (p.Gly998=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001484790] |
Chr2:166272756 [GRCh38]
Chr2:167129266 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.228G>A (p.Glu76=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000865551] |
Chr2:166311529 [GRCh38]
Chr2:167168039 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.672T>A (p.Thr224=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001392239] |
Chr2:166304254 [GRCh38]
Chr2:167160764 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.600T>C (p.Tyr200=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000927739] |
Chr2:166304326 [GRCh38]
Chr2:167160836 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1443G>A (p.Lys481=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001473752] |
Chr2:166286495 [GRCh38]
Chr2:167143005 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.216A>G (p.Ser72=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000983643] |
Chr2:166311541 [GRCh38]
Chr2:167168051 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.633A>C (p.Ser211=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000983647] |
Chr2:166304293 [GRCh38]
Chr2:167160803 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1845C>T (p.Asn615=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000867261] |
Chr2:166284582 [GRCh38]
Chr2:167141092 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.153T>C (p.Ser51=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000883040] |
Chr2:166311604 [GRCh38]
Chr2:167168114 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5664A>G (p.Gln1888=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000866158] |
Chr2:166198975 [GRCh38]
Chr2:167055485 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.240C>T (p.Pro80=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001437189] |
Chr2:166311517 [GRCh38]
Chr2:167168027 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5836dup (p.Thr1946fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001040742] |
Chr2:166198802..166198803 [GRCh38]
Chr2:167055312..167055313 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001062488]|Primary erythromelalgia [RCV001535657] |
Chr2:166228769 [GRCh38]
Chr2:167085279 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.2240A>C (p.Asp747Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001053026] |
Chr2:166280460 [GRCh38]
Chr2:167136970 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2596C>G (p.Leu866Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001061900] |
Chr2:166277261 [GRCh38]
Chr2:167133771 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5086A>G (p.Thr1696Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001059472] |
Chr2:166199553 [GRCh38]
Chr2:167056063 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165898666)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033845] |
Chr2:166755176..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2764C>T (p.Arg922Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001037995] |
Chr2:166277093 [GRCh38]
Chr2:167133603 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5258A>C (p.Asn1753Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001047043] |
Chr2:166199381 [GRCh38]
Chr2:167055891 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5776T>A (p.Leu1926Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003246403] |
Chr2:166198863 [GRCh38]
Chr2:167055373 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5602A>C (p.Met1868Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001057466] |
Chr2:166199037 [GRCh38]
Chr2:167055547 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.49A>G (p.Lys17Glu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001329014]|Inborn genetic diseases [RCV002339261]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001052029] |
Chr2:166311708 [GRCh38]
Chr2:167168218 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3160A>C (p.Lys1054Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001060150] |
Chr2:166272590 [GRCh38]
Chr2:167129100 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.182T>A (p.Phe61Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002553878]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001060250] |
Chr2:166311575 [GRCh38]
Chr2:167168085 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5791G>T (p.Asp1931Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001048732] |
Chr2:166198848 [GRCh38]
Chr2:167055358 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1320_1325dup (p.Ala445_Glu446insAlaAla) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001050480] |
Chr2:166286612..166286613 [GRCh38]
Chr2:167143122..167143123 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3446A>G (p.Asp1149Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001039752] |
Chr2:166251791 [GRCh38]
Chr2:167108301 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2061G>C (p.Gln687His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001060512] |
Chr2:166281722 [GRCh38]
Chr2:167138232 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4595T>C (p.Met1532Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001048883] |
Chr2:166204134 [GRCh38]
Chr2:167060644 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2158A>C (p.Lys720Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002416381]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001050628] |
Chr2:166280542 [GRCh38]
Chr2:167137052 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1792C>T (p.Arg598Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001036458]|not provided [RCV003438652] |
Chr2:166284635 [GRCh38]
Chr2:167141145 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001051216] |
Chr2:166272563 [GRCh38]
Chr2:167129073 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2073T>G (p.Ser691Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001038341]|not provided [RCV002285436] |
Chr2:166281710 [GRCh38]
Chr2:167138220 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5762A>T (p.Asp1921Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001038617] |
Chr2:166198877 [GRCh38]
Chr2:167055387 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5318C>T (p.Pro1773Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001050939] |
Chr2:166199321 [GRCh38]
Chr2:167055831 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3024_3026del (p.Glu1008_Phe1009delinsAsp) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001054655] |
Chr2:166272724..166272726 [GRCh38]
Chr2:167129234..167129236 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4073G>C (p.Arg1358Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002325578]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000810230] |
Chr2:166228824 [GRCh38]
Chr2:167085334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5446G>A (p.Ala1816Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000792376] |
Chr2:166199193 [GRCh38]
Chr2:167055703 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1275G>T (p.Gln425His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806065] |
Chr2:166288476 [GRCh38]
Chr2:167144986 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3925-4C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000983435] |
Chr2:166228976 [GRCh38]
Chr2:167085486 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.846T>C (p.Asn282=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001478652] |
Chr2:166303145 [GRCh38]
Chr2:167159655 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5487C>A (p.Pro1829=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001501454] |
Chr2:166199152 [GRCh38]
Chr2:167055662 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4503+9dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000867245] |
Chr2:166204350..166204351 [GRCh38]
Chr2:167060860..167060861 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.774G>A (p.Val258=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000868802] |
Chr2:166303217 [GRCh38]
Chr2:167159727 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5883A>G (p.Val1961=) |
single nucleotide variant |
not provided [RCV000943666] |
Chr2:166198756 [GRCh38]
Chr2:167055266 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1158T>A (p.Ile386=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000866809]|SCN9A-related condition [RCV003908227] |
Chr2:166288593 [GRCh38]
Chr2:167145103 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-4_1975-3dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000863352] |
Chr2:166281810..166281811 [GRCh38]
Chr2:167138320..167138321 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4974C>T (p.Tyr1658=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001481228] |
Chr2:166199665 [GRCh38]
Chr2:167056175 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.467+9G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001481913] |
Chr2:166306501 [GRCh38]
Chr2:167163011 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3781C>T (p.Leu1261=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001491905] |
Chr2:166238114 [GRCh38]
Chr2:167094624 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5493T>G (p.Val1831=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001439884] |
Chr2:166199146 [GRCh38]
Chr2:167055656 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2676C>T (p.Tyr892=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000877533] |
Chr2:166277181 [GRCh38]
Chr2:167133691 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1695A>G (p.Gly565=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001468344] |
Chr2:166284732 [GRCh38]
Chr2:167141242 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1890G>T (p.Leu630=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000904871] |
Chr2:166284537 [GRCh38]
Chr2:167141047 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1108-5C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000938407]|not provided [RCV001531327] |
Chr2:166288648 [GRCh38]
Chr2:167145158 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4707C>T (p.Leu1569=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000866608] |
Chr2:166204022 [GRCh38]
Chr2:167060532 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1026G>A (p.Thr342=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000869414] |
Chr2:166293312 [GRCh38]
Chr2:167149822 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.513C>A (p.Ile171=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000945311] |
Chr2:166305875 [GRCh38]
Chr2:167162385 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) |
single nucleotide variant |
Primary erythromelalgia [RCV000768311]|Primary erythromelalgia [RCV003224454] |
Chr2:166204381 [GRCh38]
Chr2:167060891 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2130T>C (p.Cys710=) |
single nucleotide variant |
not provided [RCV000914092] |
Chr2:166280570 [GRCh38]
Chr2:167137080 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000820787] |
Chr2:166272766 [GRCh38]
Chr2:167129276 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5783A>G (p.Asn1928Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000797294] |
Chr2:166198856 [GRCh38]
Chr2:167055366 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.583G>A (p.Val195Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002352425]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000813714] |
Chr2:166305805 [GRCh38]
Chr2:167162315 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.117G>T (p.Lys39Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000813833] |
Chr2:166311640 [GRCh38]
Chr2:167168150 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1789C>G (p.Arg597Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000819124] |
Chr2:166284638 [GRCh38]
Chr2:167141148 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4901T>C (p.Leu1634Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000804635] |
Chr2:166199738 [GRCh38]
Chr2:167056248 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4545A>G (p.Gln1515=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001398767] |
Chr2:166204184 [GRCh38]
Chr2:167060694 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5542C>T (p.Arg1848Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806688] |
Chr2:166199097 [GRCh38]
Chr2:167055607 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5277A>G (p.Ile1759Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000813456] |
Chr2:166199362 [GRCh38]
Chr2:167055872 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4428A>C (p.Glu1476Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000797091] |
Chr2:166204435 [GRCh38]
Chr2:167060945 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4307A>C (p.Tyr1436Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000801141] |
Chr2:166226658 [GRCh38]
Chr2:167083168 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3800A>C (p.Asp1267Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000802907] |
Chr2:166238095 [GRCh38]
Chr2:167094605 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.381A>T (p.Leu127Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000810529] |
Chr2:166306596 [GRCh38]
Chr2:167163106 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.317T>C (p.Leu106Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000817690] |
Chr2:166307016 [GRCh38]
Chr2:167163526 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4122G>A (p.Met1374Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000821268] |
Chr2:166228775 [GRCh38]
Chr2:167085285 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.657G>C (p.Leu219Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000821341] |
Chr2:166304269 [GRCh38]
Chr2:167160779 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4799A>G (p.Glu1600Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000823762] |
Chr2:166199840 [GRCh38]
Chr2:167056350 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2538A>G (p.Ala846=) |
single nucleotide variant |
not provided [RCV000997295] |
Chr2:166277319 [GRCh38]
Chr2:167133829 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4066G>T (p.Gly1356Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000813819] |
Chr2:166228831 [GRCh38]
Chr2:167085341 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.179C>G (p.Pro60Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000819635] |
Chr2:166311578 [GRCh38]
Chr2:167168088 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1626C>G (p.Ser542=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000869574] |
Chr2:166284801 [GRCh38]
Chr2:167141311 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1124G>C (p.Gly375Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000819758] |
Chr2:166288627 [GRCh38]
Chr2:167145137 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3080C>G (p.Ala1027Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000818025] |
Chr2:166272670 [GRCh38]
Chr2:167129180 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.356C>G (p.Ser119Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000803434] |
Chr2:166306977 [GRCh38]
Chr2:167163487 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001136145]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000821630]|Paroxysmal extreme pain disorder [RCV001136146]|Primary erythromelalgia [RCV001132742] |
Chr2:166251849 [GRCh38]
Chr2:167108359 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5758G>A (p.Gly1920Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806852] |
Chr2:166198881 [GRCh38]
Chr2:167055391 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5815G>A (p.Glu1939Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002352389]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806998] |
Chr2:166198824 [GRCh38]
Chr2:167055334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5636C>G (p.Pro1879Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000800027] |
Chr2:166199003 [GRCh38]
Chr2:167055513 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2828T>C (p.Met943Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000803535] |
Chr2:166277029 [GRCh38]
Chr2:167133539 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1876G>C (p.Gly626Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000791700] |
Chr2:166284551 [GRCh38]
Chr2:167141061 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3406G>A (p.Gly1136Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000805487] |
Chr2:166251831 [GRCh38]
Chr2:167108341 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1154T>G (p.Val385Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002360974]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000805496]|SCN9A-related condition [RCV003411776]|not provided [RCV001796238] |
Chr2:166288597 [GRCh38]
Chr2:167145107 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000808846] |
Chr2:166278154 [GRCh38]
Chr2:167134664 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5216A>G (p.Tyr1739Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000803942] |
Chr2:166199423 [GRCh38]
Chr2:167055933 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5503C>T (p.Arg1835Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000805568] |
Chr2:166199136 [GRCh38]
Chr2:167055646 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2302A>G (p.Met768Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000796189] |
Chr2:166280398 [GRCh38]
Chr2:167136908 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001132096]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000795381]|Paroxysmal extreme pain disorder [RCV001133027]|Primary erythromelalgia [RCV001132095] |
Chr2:166281785 [GRCh38]
Chr2:167138295 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1940A>T (p.Glu647Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000822298] |
Chr2:166284487 [GRCh38]
Chr2:167140997 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.470A>G (p.Tyr157Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000808972] |
Chr2:166305918 [GRCh38]
Chr2:167162428 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.290T>A (p.Ile97Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000796956] |
Chr2:166307043 [GRCh38]
Chr2:167163553 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2792C>T (p.Thr931Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000809410] |
Chr2:166277065 [GRCh38]
Chr2:167133575 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001128822]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001088977]|Paroxysmal extreme pain disorder [RCV001135811]|Primary erythromelalgia [RCV001135810]|not provided [RCV000826990] |
Chr2:166199053 [GRCh38]
Chr2:167055563 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NC_000002.12:g.(?_165090130)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000807258]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003117597]|Seizures, benign familial infantile, 3 [RCV003106069]|not provided [RCV003106068] |
Chr2:165090130..166311776 [GRCh38]
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_001365536.1(SCN9A):c.5929G>A (p.Glu1977Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000815546] |
Chr2:166198710 [GRCh38]
Chr2:167055220 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166152314)_(167108415_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000811357]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372278] |
Chr2:165295804..166251905 [GRCh38]
Chr2:166152314..167108415 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790200]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000797678]|not specified [RCV003489866] |
Chr2:166204100 [GRCh38]
Chr2:167060610 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5705G>A (p.Arg1902His) |
single nucleotide variant |
Inborn genetic diseases [RCV002345868]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000816210] |
Chr2:166198934 [GRCh38]
Chr2:167055444 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2757T>A (p.Ile919=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000800283] |
Chr2:166277100 [GRCh38]
Chr2:167133610 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134342]|Inborn genetic diseases [RCV002352354]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000800311]|Paroxysmal extreme pain disorder [RCV001134340]|Primary erythromelalgia [RCV001134341]|not provided [RCV001508456]|not specified [RCV003235403] |
Chr2:166198694 [GRCh38]
Chr2:167055204 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4089A>G (p.Gln1363=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000822872] |
Chr2:166228808 [GRCh38]
Chr2:167085318 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1841T>G (p.Val614Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000822878] |
Chr2:166284586 [GRCh38]
Chr2:167141096 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.109GAA[1] (p.Glu38del) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000800958] |
Chr2:166311643..166311645 [GRCh38]
Chr2:167168153..167168155 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.854C>T (p.Thr285Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000804191] |
Chr2:166303137 [GRCh38]
Chr2:167159647 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3397C>G (p.Pro1133Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000797447] |
Chr2:166251840 [GRCh38]
Chr2:167108350 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.68T>A (p.Ile23Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000804385] |
Chr2:166311689 [GRCh38]
Chr2:167168199 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2033del (p.Asp678fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000813927] |
Chr2:166281750 [GRCh38]
Chr2:167138260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.354A>G (p.Ile118Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000801382] |
Chr2:166306979 [GRCh38]
Chr2:167163489 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002388483]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000801398]|Primary erythromelalgia [RCV002487696]|not provided [RCV001592990] |
Chr2:166303227 [GRCh38]
Chr2:167159737 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4879G>A (p.Ala1627Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000817886] |
Chr2:166199760 [GRCh38]
Chr2:167056270 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4502G>A (p.Gly1501Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000804577] |
Chr2:166204361 [GRCh38]
Chr2:167060871 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.689-20C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002068617]|not provided [RCV000842349] |
Chr2:166303322 [GRCh38]
Chr2:167159832 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000785105] |
Chr2:166306981..166306983 [GRCh38]
Chr2:167163491..167163493 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1820G>T (p.Arg607Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000798046] |
Chr2:166284607 [GRCh38]
Chr2:167141117 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1622G>A (p.Gly541Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000808250] |
Chr2:166284805 [GRCh38]
Chr2:167141315 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3351+5G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000808590] |
Chr2:166272394 [GRCh38]
Chr2:167128904 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000805408] |
Chr2:166284658..166284661 [GRCh38]
Chr2:167141168..167141171 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1405A>T (p.Ser469Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000798570] |
Chr2:166286533 [GRCh38]
Chr2:167143043 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4258A>C (p.Asn1420His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000822128] |
Chr2:166227672 [GRCh38]
Chr2:167084182 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.358A>G (p.Ile120Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000822503] |
Chr2:166306975 [GRCh38]
Chr2:167163485 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4399-1C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000793027] |
Chr2:166204465 [GRCh38]
Chr2:167060975 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.5692C>T (p.Arg1898Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000811790] |
Chr2:166198947 [GRCh38]
Chr2:167055457 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001046300]|not provided [RCV001509167] |
Chr2:166286371 [GRCh38]
Chr2:167142881 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165090130)_(166286643_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387894] |
Chr2:165090130..166286643 [GRCh38]
Chr2:165946640..167143153 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2112_2114del (p.Glu705del) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067492] |
Chr2:166280586..166280588 [GRCh38]
Chr2:167137096..167137098 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.-31G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133443]|Paroxysmal extreme pain disorder [RCV001134931] |
Chr2:166311787 [GRCh38]
Chr2:167168297 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.581T>A (p.Val194Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000807371] |
Chr2:166305807 [GRCh38]
Chr2:167162317 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*3204G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134930]|Paroxysmal extreme pain disorder [RCV001134928]|Primary erythromelalgia [RCV001134929] |
Chr2:166195468 [GRCh38]
Chr2:167051978 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_002977.3(SCN9A):c.-348G>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001135053]|Paroxysmal extreme pain disorder [RCV001135054]|Primary erythromelalgia [RCV001135052] |
Chr2:166375994 [GRCh38]
Chr2:167232504 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*900T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134084]|Paroxysmal extreme pain disorder [RCV001134083]|Primary erythromelalgia [RCV001134082] |
Chr2:166197772 [GRCh38]
Chr2:167054282 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2650G>A (p.Gly884Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000808134]|not provided [RCV003141814] |
Chr2:166277207 [GRCh38]
Chr2:167133717 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3869G>A (p.Arg1290Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002365757]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001065098] |
Chr2:166233395 [GRCh38]
Chr2:167089905 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1383G>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001135470]|Paroxysmal extreme pain disorder [RCV001135469]|Primary erythromelalgia [RCV001135471] |
Chr2:166197289 [GRCh38]
Chr2:167053799 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2063G>A (p.Arg688Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000809187] |
Chr2:166281720 [GRCh38]
Chr2:167138230 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000812155]|Primary erythromelalgia [RCV002495132] |
Chr2:166278309 [GRCh38]
Chr2:167134819 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5675C>A (p.Ser1892Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002345862]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000814673] |
Chr2:166198964 [GRCh38]
Chr2:167055474 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2834T>C (p.Leu945Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000814691] |
Chr2:166277023 [GRCh38]
Chr2:167133533 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1912A>C (p.Met638Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002408980]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000821304] |
Chr2:166284515 [GRCh38]
Chr2:167141025 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2185T>C (p.Tyr729His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000805005] |
Chr2:166280515 [GRCh38]
Chr2:167137025 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2417T>C (p.Val806Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000801714] |
Chr2:166278240 [GRCh38]
Chr2:167134750 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1504A>G (p.Lys502Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000796177] |
Chr2:166286434 [GRCh38]
Chr2:167142944 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5904_5906dup (p.Tyr1969Ter) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000796288] |
Chr2:166198732..166198733 [GRCh38]
Chr2:167055242..167055243 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000876914]|Primary erythromelalgia [RCV002495324]|not provided [RCV003222161] |
Chr2:166199394 [GRCh38]
Chr2:167055904 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.2711C>T (p.Thr904Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000822245] |
Chr2:166277146 [GRCh38]
Chr2:167133656 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1185C>T (p.Asn395=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000917631] |
Chr2:166288566 [GRCh38]
Chr2:167145076 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.479C>G (p.Thr160Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000807410] |
Chr2:166305909 [GRCh38]
Chr2:167162419 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5272G>A (p.Val1758Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002336637]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000805855] |
Chr2:166199367 [GRCh38]
Chr2:167055877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5681C>G (p.Thr1894Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001592992]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000802884] |
Chr2:166198958 [GRCh38]
Chr2:167055468 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.133G>T (p.Glu45Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000802937] |
Chr2:166311624 [GRCh38]
Chr2:167168134 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2626A>G (p.Ile876Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000803016] |
Chr2:166277231 [GRCh38]
Chr2:167133741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) |
single nucleotide variant |
Epilepsy [RCV000789048]|Inborn genetic diseases [RCV002325492]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000798996] |
Chr2:166307005 [GRCh38]
Chr2:167163515 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.796C>A (p.Leu266Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000792262] |
Chr2:166303195 [GRCh38]
Chr2:167159705 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4496G>A (p.Arg1499Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000794891] |
Chr2:166204367 [GRCh38]
Chr2:167060877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.64C>G (p.Leu22Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000794902] |
Chr2:166311693 [GRCh38]
Chr2:167168203 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596+4_596+7del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806023] |
Chr2:166305785..166305788 [GRCh38]
Chr2:167162295..167162298 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5261T>C (p.Met1754Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000800464] |
Chr2:166199378 [GRCh38]
Chr2:167055888 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3827A>T (p.Asn1276Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000803835] |
Chr2:166233437 [GRCh38]
Chr2:167089947 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1072A>G (p.Met358Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000792590] |
Chr2:166293266 [GRCh38]
Chr2:167149776 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503+9del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001484161] |
Chr2:166204351 [GRCh38]
Chr2:167060861 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1007A>C (p.Asn336Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000820729] |
Chr2:166293331 [GRCh38]
Chr2:167149841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2163C>A (p.Phe721Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000793150] |
Chr2:166280537 [GRCh38]
Chr2:167137047 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3612C>T (p.Leu1204=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001464521] |
Chr2:166242517 [GRCh38]
Chr2:167099027 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4959G>T (p.Leu1653=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001493152] |
Chr2:166199680 [GRCh38]
Chr2:167056190 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4735A>G (p.Asn1579Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067816] |
Chr2:166203994 [GRCh38]
Chr2:167060504 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1658G>A (p.Ser553Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001068769] |
Chr2:166284769 [GRCh38]
Chr2:167141279 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1342A>G (p.Thr448Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001066001] |
Chr2:166286596 [GRCh38]
Chr2:167143106 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_002977.3(SCN9A):c.-324C>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133563]|Paroxysmal extreme pain disorder [RCV001133564]|Primary erythromelalgia [RCV001135051] |
Chr2:166375970 [GRCh38]
Chr2:167232480 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*887T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001135589]|Paroxysmal extreme pain disorder [RCV001134085]|Primary erythromelalgia [RCV001134086] |
Chr2:166197785 [GRCh38]
Chr2:167054295 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:167163942-167250612)x3 |
copy number gain |
not provided [RCV000849123] |
Chr2:167163942..167250612 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1336G>A (p.Glu446Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002550710]|not provided [RCV000997298] |
Chr2:166286602 [GRCh38]
Chr2:167143112 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.428_444delinsG (p.Met143fs) |
indel |
not provided [RCV001008306] |
Chr2:166306533..166306549 [GRCh38]
Chr2:167163043..167163059 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| GRCh37/hg19 2q24.3(chr2:166727672-167372934)x3 |
copy number gain |
not provided [RCV000849819] |
Chr2:166727672..167372934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000986922] |
Chr2:166204436..166204439 [GRCh38]
Chr2:167060946..167060949 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1344A>G (p.Thr448=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002539073] |
Chr2:166286594 [GRCh38]
Chr2:167143104 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4388A>G (p.Gln1463Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001065635] |
Chr2:166226577 [GRCh38]
Chr2:167083087 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001129829]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002556825]|Paroxysmal extreme pain disorder [RCV001129828]|Primary erythromelalgia [RCV001129827] |
Chr2:166311519 [GRCh38]
Chr2:167168029 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166338194-167854823)x3 |
copy number gain |
not provided [RCV001005353] |
Chr2:166338194..167854823 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4829G>A (p.Arg1610Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001231573] |
Chr2:166199810 [GRCh38]
Chr2:167056320 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2152G>A (p.Ala718Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001231145] |
Chr2:166280548 [GRCh38]
Chr2:167137058 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002549815]|not provided [RCV000992916] |
Chr2:166304313..166304314 [GRCh38]
Chr2:167160823..167160824 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34 |
pathogenic |
| NM_001365536.1(SCN9A):c.5858C>T (p.Thr1953Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001300847]|not specified [RCV001174605] |
Chr2:166198781 [GRCh38]
Chr2:167055291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165991225)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032875] |
Chr2:166847735..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.*362C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131241]|Paroxysmal extreme pain disorder [RCV001131240]|Primary erythromelalgia [RCV001131239] |
Chr2:166198310 [GRCh38]
Chr2:167054820 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.3445G>T (p.Asp1149Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001201738] |
Chr2:166251792 [GRCh38]
Chr2:167108302 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3044C>G (p.Ser1015Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001240133] |
Chr2:166272706 [GRCh38]
Chr2:167129216 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.447G>A (p.Pro149=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001240175] |
Chr2:166306530 [GRCh38]
Chr2:167163040 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2063G>C (p.Arg688Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001204849] |
Chr2:166281720 [GRCh38]
Chr2:167138230 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4795A>G (p.Ile1599Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001202812] |
Chr2:166199844 [GRCh38]
Chr2:167056354 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5456A>T (p.Asn1819Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001210579] |
Chr2:166199183 [GRCh38]
Chr2:167055693 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5376T>A (p.Asp1792Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001205065] |
Chr2:166199263 [GRCh38]
Chr2:167055773 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5149C>G (p.Pro1717Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001237712] |
Chr2:166199490 [GRCh38]
Chr2:167056000 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1096C>T (p.Leu366Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001240782] |
Chr2:166293242 [GRCh38]
Chr2:167149752 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.559C>A (p.Pro187Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001216273]|not provided [RCV001311226] |
Chr2:166305829 [GRCh38]
Chr2:167162339 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3579G>T (p.Trp1193Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001237818] |
Chr2:166242550 [GRCh38]
Chr2:167099060 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5710C>A (p.Arg1904Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001224612] |
Chr2:166198929 [GRCh38]
Chr2:167055439 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1314+5T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001234559]|SCN9A-related condition [RCV003898226] |
Chr2:166288432 [GRCh38]
Chr2:167144942 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3884T>C (p.Leu1295Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001241115] |
Chr2:166233380 [GRCh38]
Chr2:167089890 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3971T>C (p.Val1324Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002567940]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001239965] |
Chr2:166228926 [GRCh38]
Chr2:167085436 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5923G>C (p.Glu1975Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001220823] |
Chr2:166198716 [GRCh38]
Chr2:167055226 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2168T>A (p.Ile723Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001234832] |
Chr2:166280532 [GRCh38]
Chr2:167137042 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001209835] |
Chr2:166204219 [GRCh38]
Chr2:167060729 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1184A>T (p.Asn395Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001225079] |
Chr2:166288567 [GRCh38]
Chr2:167145077 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001241449] |
Chr2:166199820 [GRCh38]
Chr2:167056330 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4629_4631delinsAGA (p.Met1543_Thr1544delinsIleAsp) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001243232] |
Chr2:166204098..166204100 [GRCh38]
Chr2:167060608..167060610 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3120C>G (p.Asn1040Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001220982] |
Chr2:166272630 [GRCh38]
Chr2:167129140 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1403T>C (p.Leu468Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001226446] |
Chr2:166286535 [GRCh38]
Chr2:167143045 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5371C>A (p.Pro1791Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001221469]|not provided [RCV001815517] |
Chr2:166199268 [GRCh38]
Chr2:167055778 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1277T>C (p.Met426Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001225496] |
Chr2:166288474 [GRCh38]
Chr2:167144984 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.950T>C (p.Phe317Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001241728] |
Chr2:166294614 [GRCh38]
Chr2:167151124 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4156A>C (p.Lys1386Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001041147]|not provided [RCV000997294] |
Chr2:166228741 [GRCh38]
Chr2:167085251 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2191A>G (p.Ile731Val) |
single nucleotide variant |
not provided [RCV000997296] |
Chr2:166280509 [GRCh38]
Chr2:167137019 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.507A>G (p.Val169=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003769362]|not provided [RCV000997299] |
Chr2:166305881 [GRCh38]
Chr2:167162391 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001198008]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001242219]|not provided [RCV001751362] |
Chr2:166199051 [GRCh38]
Chr2:167055561 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2522G>A (p.Arg841Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001225631] |
Chr2:166277335 [GRCh38]
Chr2:167133845 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4760T>C (p.Ile1587Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001229084] |
Chr2:166203969 [GRCh38]
Chr2:167060479 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236101] |
Chr2:166199557 [GRCh38]
Chr2:167056067 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002356983]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001229269]|Primary erythromelalgia [RCV002497779] |
Chr2:166198802 [GRCh38]
Chr2:167055312 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4370T>C (p.Ile1457Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001296362]|not provided [RCV001200255] |
Chr2:166226595 [GRCh38]
Chr2:167083105 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5087C>A (p.Thr1696Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001226245] |
Chr2:166199552 [GRCh38]
Chr2:167056062 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5734A>G (p.Ile1912Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001204550] |
Chr2:166198905 [GRCh38]
Chr2:167055415 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001329015]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001216710]|not provided [RCV001508457] |
Chr2:166199475 [GRCh38]
Chr2:167055985 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001219445] |
Chr2:166277148 [GRCh38]
Chr2:167133658 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001132928]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001856715]|Paroxysmal extreme pain disorder [RCV001132927]|Primary erythromelalgia [RCV001136364] |
Chr2:166280460 [GRCh38]
Chr2:167136970 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.901+4A>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001228732] |
Chr2:166303086 [GRCh38]
Chr2:167159596 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133442]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001856719]|Paroxysmal extreme pain disorder [RCV001133441]|Primary erythromelalgia [RCV001133440] |
Chr2:166311684 [GRCh38]
Chr2:167168194 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2765G>A (p.Arg922His) |
single nucleotide variant |
Inborn genetic diseases [RCV002451537]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001228875] |
Chr2:166277092 [GRCh38]
Chr2:167133602 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3802-3T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001065438] |
Chr2:166233465 [GRCh38]
Chr2:167089975 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*164G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001128714]|Paroxysmal extreme pain disorder [RCV001128713]|Primary erythromelalgia [RCV001128712] |
Chr2:166198508 [GRCh38]
Chr2:167055018 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001128934]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001856680]|Paroxysmal extreme pain disorder [RCV001128935]|Primary erythromelalgia [RCV001128933] |
Chr2:166228798 [GRCh38]
Chr2:167085308 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2299C>T (p.Pro767Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001197769] |
Chr2:166280401 [GRCh38]
Chr2:167136911 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4040T>C (p.Phe1347Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001229669] |
Chr2:166228857 [GRCh38]
Chr2:167085367 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4547C>T (p.Ala1516Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003106505] |
Chr2:166204182 [GRCh38]
Chr2:167060692 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.966-2_972del |
deletion |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV003229784] |
Chr2:166293366..166293374 [GRCh38]
Chr2:167149876..167149884 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166895913)_(167145173_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105602]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003122551] |
Chr2:166895913..167145173 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166210682)_(167168266_?)dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113170]|Seizures, benign familial infantile, 3 [RCV003107714] |
Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2840T>C (p.Val947Ala) |
single nucleotide variant |
not provided [RCV001555098] |
Chr2:166277017 [GRCh38]
Chr2:167133527 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4916T>A (p.Met1639Lys) |
single nucleotide variant |
not provided [RCV001543587] |
Chr2:166199723 [GRCh38]
Chr2:167056233 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.4317C>T (p.Val1439=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000868659] |
Chr2:166226648 [GRCh38]
Chr2:167083158 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4479A>T (p.Pro1493=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002540039] |
Chr2:166204384 [GRCh38]
Chr2:167060894 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4275C>A (p.Pro1425=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000936776] |
Chr2:166226690 [GRCh38]
Chr2:167083200 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4848G>A (p.Arg1616=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001450265] |
Chr2:166199791 [GRCh38]
Chr2:167056301 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1755G>A (p.Arg585=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000869168] |
Chr2:166284672 [GRCh38]
Chr2:167141182 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5649A>G (p.Thr1883=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001472019] |
Chr2:166198990 [GRCh38]
Chr2:167055500 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2055C>T (p.Leu685=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002539082] |
Chr2:166281728 [GRCh38]
Chr2:167138238 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2343+9C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000867221] |
Chr2:166280348 [GRCh38]
Chr2:167136858 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1503G>A (p.Ser501=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000863545] |
Chr2:166286435 [GRCh38]
Chr2:167142945 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2352T>C (p.Thr784=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001398490] |
Chr2:166278305 [GRCh38]
Chr2:167134815 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4677T>C (p.Thr1559=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001400957] |
Chr2:166204052 [GRCh38]
Chr2:167060562 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4794G>A (p.Leu1598=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001858600] |
Chr2:166199845 [GRCh38]
Chr2:167056355 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1818T>C (p.Ser606=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001492296] |
Chr2:166284609 [GRCh38]
Chr2:167141119 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.588T>C (p.Ile196=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001431013] |
Chr2:166305800 [GRCh38]
Chr2:167162310 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.48A>G (p.Thr16=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001457418] |
Chr2:166311709 [GRCh38]
Chr2:167168219 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2616G>A (p.Val872=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000874082] |
Chr2:166277241 [GRCh38]
Chr2:167133751 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.927C>A (p.Ser309=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002066327] |
Chr2:166294637 [GRCh38]
Chr2:167151147 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4117C>T (p.Leu1373Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001242057] |
Chr2:166228780 [GRCh38]
Chr2:167085290 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165090130)_(166311776_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032318]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001324549]|Seizures, benign familial infantile, 3 [RCV001365121]|not provided [RCV001300704] |
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance|no classifications from unflagged records |
| NM_001365536.1(SCN9A):c.3075A>T (p.Arg1025Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001046696] |
Chr2:166272675 [GRCh38]
Chr2:167129185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.940C>A (p.Leu314Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001212385] |
Chr2:166294624 [GRCh38]
Chr2:167151134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4451C>A (p.Ala1484Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001231666] |
Chr2:166204412 [GRCh38]
Chr2:167060922 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4093C>G (p.Pro1365Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001244516] |
Chr2:166228804 [GRCh38]
Chr2:167085314 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1756G>A (p.Gly586Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001239224]|not provided [RCV001760258] |
Chr2:166284671 [GRCh38]
Chr2:167141181 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2104+5G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001035512] |
Chr2:166281674 [GRCh38]
Chr2:167138184 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2104+4T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001244796] |
Chr2:166281675 [GRCh38]
Chr2:167138185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5542C>G (p.Arg1848Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001212762] |
Chr2:166199097 [GRCh38]
Chr2:167055607 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4522A>G (p.Ile1508Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001208015] |
Chr2:166204207 [GRCh38]
Chr2:167060717 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*2677T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001130031]|Paroxysmal extreme pain disorder [RCV001130029]|Primary erythromelalgia [RCV001130030] |
Chr2:166195995 [GRCh38]
Chr2:167052505 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001528173]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001208223] |
Chr2:166277137 [GRCh38]
Chr2:167133647 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.188A>G (p.Tyr63Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001208251] |
Chr2:166311569 [GRCh38]
Chr2:167168079 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.530G>C (p.Cys177Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001222976] |
Chr2:166305858 [GRCh38]
Chr2:167162368 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3162G>C (p.Lys1054Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002322051]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001216526] |
Chr2:166272588 [GRCh38]
Chr2:167129098 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.773T>G (p.Val258Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002402731]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001233862] |
Chr2:166303218 [GRCh38]
Chr2:167159728 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.965+1G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236629] |
Chr2:166294598 [GRCh38]
Chr2:167151108 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.3331G>C (p.Asp1111His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001213362] |
Chr2:166272419 [GRCh38]
Chr2:167128929 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.185T>C (p.Ile62Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236880] |
Chr2:166311572 [GRCh38]
Chr2:167168082 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5182G>A (p.Gly1728Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001240114] |
Chr2:166199457 [GRCh38]
Chr2:167055967 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3810G>T (p.Leu1270Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001227560] |
Chr2:166233454 [GRCh38]
Chr2:167089964 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*2945C>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133561]|Paroxysmal extreme pain disorder [RCV001133560]|Primary erythromelalgia [RCV001133562] |
Chr2:166195727 [GRCh38]
Chr2:167052237 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3064A>T (p.Arg1022Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001243675] |
Chr2:166272686 [GRCh38]
Chr2:167129196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1361G>T (p.Arg454Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001208995] |
Chr2:166286577 [GRCh38]
Chr2:167143087 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.496G>A (p.Glu166Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001065232] |
Chr2:166305892 [GRCh38]
Chr2:167162402 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4174G>A (p.Val1392Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067056] |
Chr2:166228723 [GRCh38]
Chr2:167085233 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165090130)_(166204484_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031030] |
Chr2:165946640..167060994 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.*1417A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001135468]|Paroxysmal extreme pain disorder [RCV001135467]|Primary erythromelalgia [RCV001135466] |
Chr2:166197255 [GRCh38]
Chr2:167053765 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3599T>A (p.Leu1200His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001047881]|not provided [RCV001811629] |
Chr2:166242530 [GRCh38]
Chr2:167099040 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165295804)_(166311776_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033512] |
Chr2:166152314..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3445G>A (p.Asp1149Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001206375] |
Chr2:166251792 [GRCh38]
Chr2:167108302 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5620A>G (p.Lys1874Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001048348] |
Chr2:166199019 [GRCh38]
Chr2:167055529 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5363A>G (p.Lys1788Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001217683] |
Chr2:166199276 [GRCh38]
Chr2:167055786 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3921G>A (p.Met1307Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001234863] |
Chr2:166233343 [GRCh38]
Chr2:167089853 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.556G>A (p.Asp186Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001238022] |
Chr2:166305832 [GRCh38]
Chr2:167162342 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2968A>G (p.Ile990Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002436875]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001225099] |
Chr2:166272782 [GRCh38]
Chr2:167129292 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5568_5569delinsTT (p.Met1856_Asp1857delinsIleTyr) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001243752] |
Chr2:166199070..166199071 [GRCh38]
Chr2:167055580..167055581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2300C>A (p.Pro767Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001243835] |
Chr2:166280400 [GRCh38]
Chr2:167136910 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.586A>G (p.Ile196Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001046119] |
Chr2:166305802 [GRCh38]
Chr2:167162312 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5492T>C (p.Val1831Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002348696]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001211993] |
Chr2:166199147 [GRCh38]
Chr2:167055657 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4847G>C (p.Arg1616Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001206696] |
Chr2:166199792 [GRCh38]
Chr2:167056302 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1483G>C (p.Gly495Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001210334] |
Chr2:166286455 [GRCh38]
Chr2:167142965 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4398+7A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001484749] |
Chr2:166226560 [GRCh38]
Chr2:167083070 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4533A>G (p.Leu1511=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001476105]|not provided [RCV000997293] |
Chr2:166204196 [GRCh38]
Chr2:167060706 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2554T>C (p.Leu852=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000934770] |
Chr2:166277303 [GRCh38]
Chr2:167133813 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4686T>C (p.Cys1562=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001427010] |
Chr2:166204043 [GRCh38]
Chr2:167060553 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.957A>G (p.Thr319=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001459580] |
Chr2:166294607 [GRCh38]
Chr2:167151117 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1113G>A (p.Leu371=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454252] |
Chr2:166288638 [GRCh38]
Chr2:167145148 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000986923] |
Chr2:166272546 [GRCh38]
Chr2:167129056 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1146T>C (p.Phe382=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000934240] |
Chr2:166288605 [GRCh38]
Chr2:167145115 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4978A>G (p.Ile1660Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002967527] |
Chr2:166199661 [GRCh38]
Chr2:167056171 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2113G>A (p.Glu705Lys) |
single nucleotide variant |
not provided [RCV002464722] |
Chr2:166280587 [GRCh38]
Chr2:167137097 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166872248-167334216) |
copy number loss |
Severe myoclonic epilepsy in infancy [RCV003236710] |
Chr2:166872248..167334216 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 |
copy number loss |
2q24 microdeletion syndrome [RCV001263223] |
Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2332A>G (p.Ile778Val) |
single nucleotide variant |
not provided [RCV001699945] |
Chr2:166280368 [GRCh38]
Chr2:167136878 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002558717]|Primary erythromelalgia [RCV001171362] |
Chr2:166303290 [GRCh38]
Chr2:167159800 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001365536.1(SCN9A):c.*2729C>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001130028]|Paroxysmal extreme pain disorder [RCV001135049]|Primary erythromelalgia [RCV001135050] |
Chr2:166195943 [GRCh38]
Chr2:167052453 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*3094A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001129910]|Paroxysmal extreme pain disorder [RCV001130612]|Primary erythromelalgia [RCV001129911] |
Chr2:166195578 [GRCh38]
Chr2:167052088 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.-92G>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134936]|Paroxysmal extreme pain disorder [RCV001134935]|Primary erythromelalgia [RCV001129912] |
Chr2:166375738 [GRCh38]
Chr2:167232248 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.*410A>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001130513]|Paroxysmal extreme pain disorder [RCV001130514]|Primary erythromelalgia [RCV001130512] |
Chr2:166198262 [GRCh38]
Chr2:167054772 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4624C>T (p.His1542Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001065878] |
Chr2:166204105 [GRCh38]
Chr2:167060615 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3925-2A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067705] |
Chr2:166228974 [GRCh38]
Chr2:167085484 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.5792A>T (p.Asp1931Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001069244] |
Chr2:166198847 [GRCh38]
Chr2:167055357 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001128825]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001232710]|Paroxysmal extreme pain disorder [RCV001128824]|Primary erythromelalgia [RCV001128823] |
Chr2:166199096 [GRCh38]
Chr2:167055606 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.20C>T (p.Pro7Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001049049]|not provided [RCV002261262] |
Chr2:166311737 [GRCh38]
Chr2:167168247 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4685G>A (p.Cys1562Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001049117] |
Chr2:166204044 [GRCh38]
Chr2:167060554 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4147A>G (p.Lys1383Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003372982]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001070974] |
Chr2:166228750 [GRCh38]
Chr2:167085260 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2767G>A (p.Val923Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002436689]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001071205]|not provided [RCV003142030] |
Chr2:166277090 [GRCh38]
Chr2:167133600 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5840_5842dup (p.Asp1947_Ala1948insAsp) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001049718] |
Chr2:166198796..166198797 [GRCh38]
Chr2:167055306..167055307 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.371T>C (p.Val124Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001069418] |
Chr2:166306962 [GRCh38]
Chr2:167163472 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.268G>C (p.Val90Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001069457] |
Chr2:166307065 [GRCh38]
Chr2:167163575 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001866267]|not provided [RCV001699754] |
Chr2:166278190 [GRCh38]
Chr2:167134700 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5096G>T (p.Gly1699Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001050130] |
Chr2:166199543 [GRCh38]
Chr2:167056053 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5588T>A (p.Met1863Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001050166] |
Chr2:166199051 [GRCh38]
Chr2:167055561 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5124T>C (p.Leu1708=) |
single nucleotide variant |
not provided [RCV001666137] |
Chr2:166199515 [GRCh38]
Chr2:167056025 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.5795T>C (p.Met1932Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001036012] |
Chr2:166198844 [GRCh38]
Chr2:167055354 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165112865)_(166311776_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033802]|not provided [RCV001346192] |
Chr2:165969375..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance|no classifications from unflagged records |
| NM_001365536.1(SCN9A):c.4865G>A (p.Arg1622His) |
single nucleotide variant |
not provided [RCV001527830] |
Chr2:166199774 [GRCh38]
Chr2:167056284 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1583G>C (p.Arg528Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001070352] |
Chr2:166286355 [GRCh38]
Chr2:167142865 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166610320-167356086)x1 |
copy number loss |
not provided [RCV001005354] |
Chr2:166610320..167356086 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166767837-167334206) |
copy number loss |
Severe myoclonic epilepsy in infancy [RCV001004096] |
Chr2:166767837..167334206 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1568G>A (p.Arg523Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001067907] |
Chr2:166286370 [GRCh38]
Chr2:167142880 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*237C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134209]|Paroxysmal extreme pain disorder [RCV001131243]|Primary erythromelalgia [RCV001131242] |
Chr2:166198435 [GRCh38]
Chr2:167054945 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.378C>T (p.Ser126=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001215576] |
Chr2:166306599 [GRCh38]
Chr2:167163109 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4207-5T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236663] |
Chr2:166227728 [GRCh38]
Chr2:167084238 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5763C>G (p.Asp1921Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001049288] |
Chr2:166198876 [GRCh38]
Chr2:167055386 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1449G>C (p.Lys483Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001068647] |
Chr2:166286489 [GRCh38]
Chr2:167142999 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2287A>G (p.Met763Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001215645] |
Chr2:166280413 [GRCh38]
Chr2:167136923 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5350G>C (p.Glu1784Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001246683] |
Chr2:166199289 [GRCh38]
Chr2:167055799 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3420A>T (p.Glu1140Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001235775] |
Chr2:166251817 [GRCh38]
Chr2:167108327 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5491G>T (p.Val1831Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001217435] |
Chr2:166199148 [GRCh38]
Chr2:167055658 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.472A>T (p.Thr158Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001232130] |
Chr2:166305916 [GRCh38]
Chr2:167162426 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4699A>T (p.Ile1567Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001218888] |
Chr2:166204030 [GRCh38]
Chr2:167060540 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.724G>C (p.Val242Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001217489] |
Chr2:166303267 [GRCh38]
Chr2:167159777 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5725G>A (p.Val1909Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001220168] |
Chr2:166198914 [GRCh38]
Chr2:167055424 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.570G>A (p.Trp190Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001042035] |
Chr2:166305818 [GRCh38]
Chr2:167162328 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2652C>T (p.Gly884=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001056433] |
Chr2:166277205 [GRCh38]
Chr2:167133715 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3014C>A (p.Thr1005Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002436639]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001060481] |
Chr2:166272736 [GRCh38]
Chr2:167129246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5329G>A (p.Asp1777Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001201753] |
Chr2:166199310 [GRCh38]
Chr2:167055820 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1691T>C (p.Ile564Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001071755] |
Chr2:166284736 [GRCh38]
Chr2:167141246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001042146]|Primary erythromelalgia [RCV002481893] |
Chr2:166311720 [GRCh38]
Chr2:167168230 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001056658]|Primary erythromelalgia [RCV001535457] |
Chr2:166199861 [GRCh38]
Chr2:167056371 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001136366]|Paroxysmal extreme pain disorder [RCV001136367]|Primary erythromelalgia [RCV001136365] |
Chr2:166280461 [GRCh38]
Chr2:167136971 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4243G>A (p.Ala1415Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001198857] |
Chr2:166227687 [GRCh38]
Chr2:167084197 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5963A>G (p.Lys1988Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001219905] |
Chr2:166198676 [GRCh38]
Chr2:167055186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3923G>A (p.Arg1308Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236901] |
Chr2:166233341 [GRCh38]
Chr2:167089851 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2620G>T (p.Ala874Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001061174] |
Chr2:166277237 [GRCh38]
Chr2:167133747 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5735_5739del (p.Ile1912fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001053101] |
Chr2:166198900..166198904 [GRCh38]
Chr2:167055410..167055414 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.*1735C>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001130290]|Paroxysmal extreme pain disorder [RCV001131002]|Primary erythromelalgia [RCV001130291] |
Chr2:166196937 [GRCh38]
Chr2:167053447 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2855T>C (p.Met952Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001039433] |
Chr2:166277002 [GRCh38]
Chr2:167133512 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1914G>A (p.Met638Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001053676] |
Chr2:166284513 [GRCh38]
Chr2:167141023 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.54G>C (p.Gln18His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001057829] |
Chr2:166311703 [GRCh38]
Chr2:167168213 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5634A>T (p.Glu1878Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001230524] |
Chr2:166199005 [GRCh38]
Chr2:167055515 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5873_5874del (p.Ser1957_Tyr1958insTer) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001054017]|not provided [RCV003141986] |
Chr2:166198765..166198766 [GRCh38]
Chr2:167055275..167055276 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4891C>T (p.Arg1631Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001039914] |
Chr2:166199748 [GRCh38]
Chr2:167056258 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1829C>T (p.Pro610Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001215691] |
Chr2:166284598 [GRCh38]
Chr2:167141108 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5187C>G (p.Asp1729Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001234302] |
Chr2:166199452 [GRCh38]
Chr2:167055962 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4967T>C (p.Phe1656Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236166] |
Chr2:166199672 [GRCh38]
Chr2:167056182 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4444_4446del (p.Tyr1482del) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001058409] |
Chr2:166204417..166204419 [GRCh38]
Chr2:167060927..167060929 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.65T>C (p.Leu22Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001215036] |
Chr2:166311692 [GRCh38]
Chr2:167168202 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1684A>G (p.Arg562Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001217327] |
Chr2:166284743 [GRCh38]
Chr2:167141253 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2816C>T (p.Ala939Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001234644] |
Chr2:166277041 [GRCh38]
Chr2:167133551 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3478G>A (p.Val1160Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001218091]|not provided [RCV001760205] |
Chr2:166242651 [GRCh38]
Chr2:167099161 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2678A>G (p.Lys893Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001214781] |
Chr2:166277179 [GRCh38]
Chr2:167133689 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.748A>G (p.Ile250Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001037754] |
Chr2:166303243 [GRCh38]
Chr2:167159753 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3433C>T (p.Pro1145Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001205309] |
Chr2:166251804 [GRCh38]
Chr2:167108314 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2342T>C (p.Leu781Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001215178] |
Chr2:166280358 [GRCh38]
Chr2:167136868 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4598T>G (p.Met1533Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001219492] |
Chr2:166204131 [GRCh38]
Chr2:167060641 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.8T>A (p.Met3Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001059309] |
Chr2:166311749 [GRCh38]
Chr2:167168259 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1361G>A (p.Arg454Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002379886]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001232724] |
Chr2:166286577 [GRCh38]
Chr2:167143087 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2698A>C (p.Asn900His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001236500] |
Chr2:166277159 [GRCh38]
Chr2:167133669 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.191G>C (p.Gly64Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001059784] |
Chr2:166311566 [GRCh38]
Chr2:167168076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*408A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001130516]|Paroxysmal extreme pain disorder [RCV001130517]|Primary erythromelalgia [RCV001130515] |
Chr2:166198264 [GRCh38]
Chr2:167054774 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*3053G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001130613]|Paroxysmal extreme pain disorder [RCV001130615]|Primary erythromelalgia [RCV001130614] |
Chr2:166195619 [GRCh38]
Chr2:167052129 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5953G>A (p.Glu1985Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001035188] |
Chr2:166198686 [GRCh38]
Chr2:167055196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5467C>T (p.Leu1823Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001049445] |
Chr2:166199172 [GRCh38]
Chr2:167055682 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2155C>T (p.His719Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001039724] |
Chr2:166280545 [GRCh38]
Chr2:167137055 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.30G>C (p.Gln10His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001053954] |
Chr2:166311727 [GRCh38]
Chr2:167168237 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1643T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131004]|Paroxysmal extreme pain disorder [RCV001131005]|Primary erythromelalgia [RCV001131003] |
Chr2:166197029 [GRCh38]
Chr2:167053539 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001049862] |
Chr2:166238115 [GRCh38]
Chr2:167094625 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131478]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002556817]|Paroxysmal extreme pain disorder [RCV001128826]|Primary erythromelalgia [RCV001131477] |
Chr2:166199392 [GRCh38]
Chr2:167055902 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1552G>T (p.Val518Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001040064] |
Chr2:166286386 [GRCh38]
Chr2:167142896 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3566T>G (p.Val1189Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003259075]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001064414] |
Chr2:166242563 [GRCh38]
Chr2:167099073 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1993C>T (p.His665Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001214552] |
Chr2:166281790 [GRCh38]
Chr2:167138300 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.13C>A (p.Pro5Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001201495] |
Chr2:166311744 [GRCh38]
Chr2:167168254 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1434C>A (p.Asn478Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001064861] |
Chr2:166286504 [GRCh38]
Chr2:167143014 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001131731]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001297092]|Paroxysmal extreme pain disorder [RCV001132738]|Primary erythromelalgia [RCV001131732] |
Chr2:166242653 [GRCh38]
Chr2:167099163 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.626A>G (p.Asn209Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001230220] |
Chr2:166304300 [GRCh38]
Chr2:167160810 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3380G>A (p.Cys1127Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001202050] |
Chr2:166251857 [GRCh38]
Chr2:167108367 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5345T>C (p.Phe1782Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001213332] |
Chr2:166199294 [GRCh38]
Chr2:167055804 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*159T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001128716]|Paroxysmal extreme pain disorder [RCV001128717]|Primary erythromelalgia [RCV001128715] |
Chr2:166198513 [GRCh38]
Chr2:167055023 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2991G>T (p.Lys997Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002436821]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001213244] |
Chr2:166272759 [GRCh38]
Chr2:167129269 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.470A>C (p.Tyr157Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002553358]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001055872] |
Chr2:166305918 [GRCh38]
Chr2:167162428 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002445295]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001055973]|not provided [RCV001759804] |
Chr2:166307029 [GRCh38]
Chr2:167163539 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1422T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001133954]|Paroxysmal extreme pain disorder [RCV001133955]|Primary erythromelalgia [RCV001133953] |
Chr2:166197250 [GRCh38]
Chr2:167053760 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.926C>G (p.Ser309Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001056379] |
Chr2:166294638 [GRCh38]
Chr2:167151148 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2630T>G (p.Val877Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001052183] |
Chr2:166277227 [GRCh38]
Chr2:167133737 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3416AAG[1] (p.Glu1140del) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001233004] |
Chr2:166251816..166251818 [GRCh38]
Chr2:167108326..167108328 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3302T>A (p.Met1101Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001052365] |
Chr2:166272448 [GRCh38]
Chr2:167128958 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.363del (p.Ile122fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001057044] |
Chr2:166306970 [GRCh38]
Chr2:167163480 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001129166]|Paroxysmal extreme pain disorder [RCV001129165]|Primary erythromelalgia [RCV001129164] |
Chr2:166272478 [GRCh38]
Chr2:167128988 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2975T>G (p.Val992Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001211077] |
Chr2:166272775 [GRCh38]
Chr2:167129285 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1025C>T (p.Thr342Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001063443] |
Chr2:166293313 [GRCh38]
Chr2:167149823 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*1815T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001135335]|Paroxysmal extreme pain disorder [RCV001135334]|Primary erythromelalgia [RCV001135333] |
Chr2:166196857 [GRCh38]
Chr2:167053367 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.*3202T>C |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001129909]|Paroxysmal extreme pain disorder [RCV001129908]|Primary erythromelalgia [RCV001129907] |
Chr2:166195470 [GRCh38]
Chr2:167051980 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3314A>C (p.Glu1105Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001053595] |
Chr2:166272436 [GRCh38]
Chr2:167128946 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4951C>A (p.Leu1651Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001063874] |
Chr2:166199688 [GRCh38]
Chr2:167056198 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4781T>G (p.Phe1594Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001202696] |
Chr2:166199858 [GRCh38]
Chr2:167056368 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003294164]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003770317]|Severe myoclonic epilepsy in infancy [RCV001253427] |
Chr2:166288637 [GRCh38]
Chr2:167145147 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3752A>G (p.Lys1251Arg) |
single nucleotide variant |
Microcephaly [RCV001252799] |
Chr2:166238143 [GRCh38]
Chr2:167094653 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5552G>A (p.Gly1851Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001350412]|Seizure [RCV001256143] |
Chr2:166199087 [GRCh38]
Chr2:167055597 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4046A>T (p.Glu1349Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001313820] |
Chr2:166228851 [GRCh38]
Chr2:167085361 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166727499-167386594)x3 |
copy number gain |
not provided [RCV001258557] |
Chr2:166727499..167386594 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5456A>G (p.Asn1819Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001304167] |
Chr2:166199183 [GRCh38]
Chr2:167055693 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3964A>G (p.Met1322Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001302656] |
Chr2:166228933 [GRCh38]
Chr2:167085443 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4500del (p.Asn1502fs) |
deletion |
not provided [RCV001268610] |
Chr2:166204363 [GRCh38]
Chr2:167060873 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2395dup (p.Asp799fs) |
duplication |
not provided [RCV001268702] |
Chr2:166278261..166278262 [GRCh38]
Chr2:167134771..167134772 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2517G>T (p.Leu839=) |
single nucleotide variant |
Inborn genetic diseases [RCV001266112]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001880109] |
Chr2:166278140 [GRCh38]
Chr2:167134650 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.3235T>G (p.Phe1079Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001300307] |
Chr2:166272515 [GRCh38]
Chr2:167129025 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.715A>G (p.Ile239Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002545001]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001306971] |
Chr2:166303276 [GRCh38]
Chr2:167159786 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1055T>C (p.Leu352Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001317091] |
Chr2:166293283 [GRCh38]
Chr2:167149793 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2330C>T (p.Ala777Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001317111]|not provided [RCV001815538] |
Chr2:166280370 [GRCh38]
Chr2:167136880 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2009G>A (p.Cys670Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001308265] |
Chr2:166281774 [GRCh38]
Chr2:167138284 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5146G>A (p.Asp1716Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001342148]|not provided [RCV001773682] |
Chr2:166199493 [GRCh38]
Chr2:167056003 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5708A>G (p.Tyr1903Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001301656] |
Chr2:166198931 [GRCh38]
Chr2:167055441 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3664A>T (p.Ile1222Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001301895] |
Chr2:166238231 [GRCh38]
Chr2:167094741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.262T>C (p.Phe88Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359251]|Seizure [RCV001281469]|not provided [RCV001760322] |
Chr2:166307071 [GRCh38]
Chr2:167163581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.210G>A (p.Met70Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001338510] |
Chr2:166311547 [GRCh38]
Chr2:167168057 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5768A>T (p.Asp1923Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001339177] |
Chr2:166198871 [GRCh38]
Chr2:167055381 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2219T>C (p.Ile740Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336521] |
Chr2:166280481 [GRCh38]
Chr2:167136991 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001325319]|Primary erythromelalgia [RCV002493700]|not provided [RCV003135980] |
Chr2:166277210 [GRCh38]
Chr2:167133720 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.482G>C (p.Gly161Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001303267] |
Chr2:166305906 [GRCh38]
Chr2:167162416 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5626T>C (p.Ser1876Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001306214] |
Chr2:166199013 [GRCh38]
Chr2:167055523 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001337460] |
Chr2:166311753 [GRCh38]
Chr2:167168263 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5015A>G (p.Glu1672Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002341618]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001308452] |
Chr2:166199624 [GRCh38]
Chr2:167056134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1285C>A (p.Arg429Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001319910] |
Chr2:166288466 [GRCh38]
Chr2:167144976 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2242C>G (p.Leu748Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001312633]|not provided [RCV002267104] |
Chr2:166280458 [GRCh38]
Chr2:167136968 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5771A>G (p.Asp1924Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001314663] |
Chr2:166198868 [GRCh38]
Chr2:167055378 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3367A>G (p.Ser1123Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001307860] |
Chr2:166251870 [GRCh38]
Chr2:167108380 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001332205] |
Chr2:166293259 [GRCh38]
Chr2:167149769 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1891G>T (p.Val631Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001313280] |
Chr2:166284536 [GRCh38]
Chr2:167141046 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3163G>A (p.Glu1055Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001315099] |
Chr2:166272587 [GRCh38]
Chr2:167129097 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2258G>A (p.Cys753Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001321371] |
Chr2:166280442 [GRCh38]
Chr2:167136952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4630A>C (p.Thr1544Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001295332]|not provided [RCV003135920] |
Chr2:166204099 [GRCh38]
Chr2:167060609 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4112T>C (p.Phe1371Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001326763] |
Chr2:166228785 [GRCh38]
Chr2:167085295 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3221G>T (p.Ser1074Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001318825] |
Chr2:166272529 [GRCh38]
Chr2:167129039 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4775-47_4803dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001318840] |
Chr2:166199835..166199836 [GRCh38]
Chr2:167056345..167056346 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.413C>T (p.Thr138Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001327005] |
Chr2:166306564 [GRCh38]
Chr2:167163074 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4163A>G (p.Asn1388Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001313696]|not provided [RCV003232301] |
Chr2:166228734 [GRCh38]
Chr2:167085244 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3289G>T (p.Asp1097Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002447335]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001315296] |
Chr2:166272461 [GRCh38]
Chr2:167128971 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1140CTT[1] (p.Phe382del) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001343729] |
Chr2:166288606..166288608 [GRCh38]
Chr2:167145116..167145118 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_167083057)_(167085502_?)del |
deletion |
Hereditary sensory and autonomic neuropathy type IIA [RCV001295588] |
Chr2:167083057..167085502 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2800G>A (p.Asp934Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001309552] |
Chr2:166277057 [GRCh38]
Chr2:167133567 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166929868)_(167056374_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001319217] |
Chr2:166929868..167056374 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2438G>A (p.Ser813Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001300093] |
Chr2:166278219 [GRCh38]
Chr2:167134729 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4206+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002327634]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001295178] |
Chr2:166228688 [GRCh38]
Chr2:167085198 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5141A>C (p.Asp1714Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001313759] |
Chr2:166199498 [GRCh38]
Chr2:167056008 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4740_4743dup (p.Asp1582delinsPheTer) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001383082] |
Chr2:166203985..166203986 [GRCh38]
Chr2:167060495..167060496 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2969T>C (p.Ile990Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001363181] |
Chr2:166272781 [GRCh38]
Chr2:167129291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4756G>T (p.Val1586Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001338245] |
Chr2:166203973 [GRCh38]
Chr2:167060483 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.923G>T (p.Gly308Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001374123] |
Chr2:166294641 [GRCh38]
Chr2:167151151 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5348A>G (p.Tyr1783Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372579] |
Chr2:166199291 [GRCh38]
Chr2:167055801 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1515A>G (p.Ser505=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001396995] |
Chr2:166286423 [GRCh38]
Chr2:167142933 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.966-9C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001363479] |
Chr2:166293381 [GRCh38]
Chr2:167149891 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3305A>G (p.Asn1102Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001358887] |
Chr2:166272445 [GRCh38]
Chr2:167128955 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2984_2985insC (p.Ile995_Lys996insTer) |
insertion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001382889] |
Chr2:166272765..166272766 [GRCh38]
Chr2:167129275..167129276 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3795T>A (p.Ile1265=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001370271] |
Chr2:166238100 [GRCh38]
Chr2:167094610 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.877C>A (p.Leu293Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001370488] |
Chr2:166303114 [GRCh38]
Chr2:167159624 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4727T>C (p.Val1576Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001370567] |
Chr2:166204002 [GRCh38]
Chr2:167060512 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3489C>T (p.Phe1163=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001421400] |
Chr2:166242640 [GRCh38]
Chr2:167099150 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1875C>T (p.Asn625=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001415230] |
Chr2:166284552 [GRCh38]
Chr2:167141062 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5799T>C (p.Ala1933=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001423052] |
Chr2:166198840 [GRCh38]
Chr2:167055350 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4929G>C (p.Ala1643=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001414305] |
Chr2:166199710 [GRCh38]
Chr2:167056220 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4006A>G (p.Ser1336Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001302862] |
Chr2:166228891 [GRCh38]
Chr2:167085401 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1583G>A (p.Arg528Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001303834] |
Chr2:166286355 [GRCh38]
Chr2:167142865 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4665A>C (p.Ile1555=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001392090] |
Chr2:166204064 [GRCh38]
Chr2:167060574 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3025T>C (p.Phe1009Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001294888] |
Chr2:166272725 [GRCh38]
Chr2:167129235 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5560G>A (p.Gly1854Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001360330] |
Chr2:166199079 [GRCh38]
Chr2:167055589 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3413_3415del (p.Gly1138del) |
deletion |
Inborn genetic diseases [RCV002456540]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359195] |
Chr2:166251822..166251824 [GRCh38]
Chr2:167108332..167108334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4070C>T (p.Ser1357Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002377516]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001362469] |
Chr2:166228827 [GRCh38]
Chr2:167085337 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3372C>T (p.Ser1124=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001415031] |
Chr2:166251865 [GRCh38]
Chr2:167108375 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5899G>T (p.Glu1967Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001373458] |
Chr2:166198740 [GRCh38]
Chr2:167055250 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4297A>C (p.Met1433Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001360727] |
Chr2:166226668 [GRCh38]
Chr2:167083178 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5373C>T (p.Pro1791=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001422885] |
Chr2:166199266 [GRCh38]
Chr2:167055776 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2561T>C (p.Met854Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001306234] |
Chr2:166277296 [GRCh38]
Chr2:167133806 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5579G>A (p.Arg1860His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001362067] |
Chr2:166199060 [GRCh38]
Chr2:167055570 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.772G>A (p.Val258Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001362842] |
Chr2:166303219 [GRCh38]
Chr2:167159729 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2915G>A (p.Ser972Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001373825] |
Chr2:166272835 [GRCh38]
Chr2:167129345 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2387T>C (p.Ile796Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001371933]|not provided [RCV001773731] |
Chr2:166278270 [GRCh38]
Chr2:167134780 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001362225]|Primary erythromelalgia [RCV001535686] |
Chr2:166272418 [GRCh38]
Chr2:167128928 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001365536.1(SCN9A):c.3031C>A (p.Leu1011Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001319897] |
Chr2:166272719 [GRCh38]
Chr2:167129229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3212T>A (p.Met1071Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001351761] |
Chr2:166272538 [GRCh38]
Chr2:167129048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2258G>T (p.Cys753Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002431908]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001318507] |
Chr2:166280442 [GRCh38]
Chr2:167136952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5408_5409del (p.Leu1802_Ser1803insTer) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001345756] |
Chr2:166199230..166199231 [GRCh38]
Chr2:167055740..167055741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5796G>A (p.Met1932Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001346478] |
Chr2:166198843 [GRCh38]
Chr2:167055353 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.838C>T (p.Leu280Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001373727] |
Chr2:166303153 [GRCh38]
Chr2:167159663 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3247C>T (p.Pro1083Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001315549] |
Chr2:166272503 [GRCh38]
Chr2:167129013 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1721A>G (p.Glu574Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001343661] |
Chr2:166284706 [GRCh38]
Chr2:167141216 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3253C>T (p.Leu1085Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001346643] |
Chr2:166272497 [GRCh38]
Chr2:167129007 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_165946660)_(167168266_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390921]|Jeune thoracic dystrophy [RCV001871956]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387893]|Seizures, benign familial infantile, 3 [RCV001381177]|not provided [RCV001362895] |
Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_001365536.1(SCN9A):c.4523T>C (p.Ile1508Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001327333] |
Chr2:166204206 [GRCh38]
Chr2:167060716 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4228A>T (p.Ile1410Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002329274]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001317748]|not provided [RCV001508458] |
Chr2:166227702 [GRCh38]
Chr2:167084212 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3136A>G (p.Met1046Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001343696] |
Chr2:166272614 [GRCh38]
Chr2:167129124 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4663A>G (p.Ile1555Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001371583] |
Chr2:166204066 [GRCh38]
Chr2:167060576 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.538G>T (p.Glu180Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336523] |
Chr2:166305850 [GRCh38]
Chr2:167162360 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.634G>A (p.Ala212Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV001336525] |
Chr2:166304292 [GRCh38]
Chr2:167160802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3341A>T (p.Tyr1114Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001297117] |
Chr2:166272409 [GRCh38]
Chr2:167128919 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.121G>A (p.Asp41Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001317761] |
Chr2:166311636 [GRCh38]
Chr2:167168146 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4364T>A (p.Val1455Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001343844] |
Chr2:166226601 [GRCh38]
Chr2:167083111 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1826C>T (p.Pro609Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001321899]|not provided [RCV001751619] |
Chr2:166284601 [GRCh38]
Chr2:167141111 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3194G>A (p.Ser1065Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001344916] |
Chr2:166272556 [GRCh38]
Chr2:167129066 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1324G>A (p.Ala442Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001315853] |
Chr2:166286614 [GRCh38]
Chr2:167143124 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.5556G>T (p.Glu1852Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001316617] |
Chr2:166199083 [GRCh38]
Chr2:167055593 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4120A>C (p.Met1374Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001320317] |
Chr2:166228777 [GRCh38]
Chr2:167085287 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.467+6T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001321965] |
Chr2:166306504 [GRCh38]
Chr2:167163014 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1806C>G (p.Ile602Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001365197] |
Chr2:166284621 [GRCh38]
Chr2:167141131 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001307632]|Primary erythromelalgia [RCV002486202] |
Chr2:166272418 [GRCh38]
Chr2:167128928 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.331C>G (p.Pro111Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001318881] |
Chr2:166307002 [GRCh38]
Chr2:167163512 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.794A>G (p.Gln265Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003263932]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001300354] |
Chr2:166303197 [GRCh38]
Chr2:167159707 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3145G>A (p.Gly1049Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001323128] |
Chr2:166272605 [GRCh38]
Chr2:167129115 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1430G>C (p.Arg477Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001368661] |
Chr2:166286508 [GRCh38]
Chr2:167143018 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2311G>A (p.Glu771Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002447430]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001349628] |
Chr2:166280389 [GRCh38]
Chr2:167136899 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3489C>A (p.Phe1163Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001325665] |
Chr2:166242640 [GRCh38]
Chr2:167099150 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4636G>A (p.Val1546Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001322140] |
Chr2:166204093 [GRCh38]
Chr2:167060603 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4048T>C (p.Cys1350Arg) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001375675] |
Chr2:166228849 [GRCh38]
Chr2:167085359 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2343G>A (p.Leu781=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001298313] |
Chr2:166280357 [GRCh38]
Chr2:167136867 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2161T>G (p.Phe721Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002419003]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001341201] |
Chr2:166280539 [GRCh38]
Chr2:167137049 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4838G>A (p.Arg1613His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001369620] |
Chr2:166199801 [GRCh38]
Chr2:167056311 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5018A>G (p.Asp1673Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001369710] |
Chr2:166199621 [GRCh38]
Chr2:167056131 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1026_1027delinsTT (p.Ser343Cys) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001317899] |
Chr2:166293311..166293312 [GRCh38]
Chr2:167149821..167149822 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3826A>G (p.Asn1276Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001322318] |
Chr2:166233438 [GRCh38]
Chr2:167089948 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.739G>C (p.Asp247His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001344268] |
Chr2:166303252 [GRCh38]
Chr2:167159762 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5573C>T (p.Ser1858Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001363507] |
Chr2:166199066 [GRCh38]
Chr2:167055576 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3575G>A (p.Ser1192Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001370252] |
Chr2:166242554 [GRCh38]
Chr2:167099064 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3737T>G (p.Ile1246Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001308906] |
Chr2:166238158 [GRCh38]
Chr2:167094668 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2201A>G (p.Lys734Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001345361] |
Chr2:166280499 [GRCh38]
Chr2:167137009 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1085A>G (p.Tyr362Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001347793] |
Chr2:166293253 [GRCh38]
Chr2:167149763 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1415G>C (p.Ser472Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372932] |
Chr2:166286523 [GRCh38]
Chr2:167143033 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3007A>G (p.Lys1003Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001363575] |
Chr2:166272743 [GRCh38]
Chr2:167129253 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3996G>T (p.Trp1332Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001316173] |
Chr2:166228901 [GRCh38]
Chr2:167085411 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4105G>A (p.Glu1369Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001344360]|not provided [RCV003136007] |
Chr2:166228792 [GRCh38]
Chr2:167085302 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2405A>G (p.Glu802Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001347830] |
Chr2:166278252 [GRCh38]
Chr2:167134762 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2732A>C (p.Asn911Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001347834] |
Chr2:166277125 [GRCh38]
Chr2:167133635 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5338G>A (p.Glu1780Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001338437] |
Chr2:166199301 [GRCh38]
Chr2:167055811 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3038C>A (p.Ala1013Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001318141]|not provided [RCV001760391] |
Chr2:166272712 [GRCh38]
Chr2:167129222 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4063G>A (p.Asp1355Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001313719] |
Chr2:166228834 [GRCh38]
Chr2:167085344 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5671G>A (p.Val1891Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001367986] |
Chr2:166198968 [GRCh38]
Chr2:167055478 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2966A>G (p.Gln989Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001319574] |
Chr2:166272784 [GRCh38]
Chr2:167129294 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2080A>G (p.Ser694Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001373277] |
Chr2:166281703 [GRCh38]
Chr2:167138213 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.878T>A (p.Leu293Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001373332] |
Chr2:166303113 [GRCh38]
Chr2:167159623 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2036T>C (p.Met679Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001360076] |
Chr2:166281747 [GRCh38]
Chr2:167138257 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4654G>A (p.Val1552Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001364563] |
Chr2:166204075 [GRCh38]
Chr2:167060585 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4575C>G (p.Ile1525Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001299806] |
Chr2:166204154 [GRCh38]
Chr2:167060664 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.786T>G (p.Ile262Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001366191] |
Chr2:166303205 [GRCh38]
Chr2:167159715 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2599G>C (p.Gly867Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001325215] |
Chr2:166277258 [GRCh38]
Chr2:167133768 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.4062A>G (p.Thr1354=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001413114] |
Chr2:166228835 [GRCh38]
Chr2:167085345 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.498A>G (p.Glu166=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001396179] |
Chr2:166305890 [GRCh38]
Chr2:167162400 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.739G>A (p.Asp247Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001339986] |
Chr2:166303252 [GRCh38]
Chr2:167159762 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.252C>A (p.Asp84Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359946] |
Chr2:166311505 [GRCh38]
Chr2:167168015 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1167C>A (p.Gly389=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001421421] |
Chr2:166288584 [GRCh38]
Chr2:167145094 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5270C>T (p.Ala1757Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359172] |
Chr2:166199369 [GRCh38]
Chr2:167055879 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2148A>T (p.Arg716Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001370972] |
Chr2:166280552 [GRCh38]
Chr2:167137062 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV003448394]|Primary erythromelalgia [RCV001329018] |
Chr2:166303090 [GRCh38]
Chr2:167159600 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.3712A>G (p.Ile1238Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001318225] |
Chr2:166238183 [GRCh38]
Chr2:167094693 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5578C>T (p.Arg1860Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001366694]|not provided [RCV001751724] |
Chr2:166199061 [GRCh38]
Chr2:167055571 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1890G>A (p.Leu630=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001305796] |
Chr2:166284537 [GRCh38]
Chr2:167141047 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5921C>T (p.Thr1974Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001309502] |
Chr2:166198718 [GRCh38]
Chr2:167055228 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5907T>C (p.Tyr1969=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001396245] |
Chr2:166198732 [GRCh38]
Chr2:167055242 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3004G>A (p.Val1002Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001338561] |
Chr2:166272746 [GRCh38]
Chr2:167129256 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1465T>G (p.Ser489Ala) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus [RCV001352940] |
Chr2:166286473 [GRCh38]
Chr2:167142983 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.293T>A (p.Phe98Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001340653] |
Chr2:166307040 [GRCh38]
Chr2:167163550 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.77G>C (p.Arg26Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001340703] |
Chr2:166311680 [GRCh38]
Chr2:167168190 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3619G>T (p.Gly1207Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001351470] |
Chr2:166242510 [GRCh38]
Chr2:167099020 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5404C>T (p.Leu1802Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001367101] |
Chr2:166199235 [GRCh38]
Chr2:167055745 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5267T>C (p.Ile1756Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001367321] |
Chr2:166199372 [GRCh38]
Chr2:167055882 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4416C>T (p.Ile1472=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001396370] |
Chr2:166204447 [GRCh38]
Chr2:167060957 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.300C>G (p.Phe100Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001365366] |
Chr2:166307033 [GRCh38]
Chr2:167163543 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5504G>A (p.Arg1835Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001309980] |
Chr2:166199135 [GRCh38]
Chr2:167055645 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1376C>T (p.Ser459Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001319113] |
Chr2:166286562 [GRCh38]
Chr2:167143072 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3738A>C (p.Ile1246=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001412893] |
Chr2:166238157 [GRCh38]
Chr2:167094667 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.199C>T (p.Pro67Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002420836]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001371786] |
Chr2:166311558 [GRCh38]
Chr2:167168068 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2006G>T (p.Arg669Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001371799] |
Chr2:166281777 [GRCh38]
Chr2:167138287 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5276T>G (p.Ile1759Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001360969] |
Chr2:166199363 [GRCh38]
Chr2:167055873 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.949T>G (p.Phe317Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359175] |
Chr2:166294615 [GRCh38]
Chr2:167151125 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.41A>C (p.His14Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001370238] |
Chr2:166311716 [GRCh38]
Chr2:167168226 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5393A>C (p.Glu1798Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001337298] |
Chr2:166199246 [GRCh38]
Chr2:167055756 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4399-6_4399-3del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001421553]|Seizure [RCV001839043] |
Chr2:166204467..166204470 [GRCh38]
Chr2:167060977..167060980 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4720T>G (p.Phe1574Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001369304] |
Chr2:166204009 [GRCh38]
Chr2:167060519 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2008_2010del (p.Cys670del) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001349092] |
Chr2:166281773..166281775 [GRCh38]
Chr2:167138283..167138285 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4593C>A (p.Thr1531=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001421629] |
Chr2:166204136 [GRCh38]
Chr2:167060646 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.62C>T (p.Ala21Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001326576] |
Chr2:166311695 [GRCh38]
Chr2:167168205 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1000G>A (p.Gly334Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001369252] |
Chr2:166293338 [GRCh38]
Chr2:167149848 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2629G>A (p.Val877Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001365557] |
Chr2:166277228 [GRCh38]
Chr2:167133738 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4932G>A (p.Leu1644=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001494791] |
Chr2:166199707 [GRCh38]
Chr2:167056217 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4054A>G (p.Asn1352Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001317333] |
Chr2:166228843 [GRCh38]
Chr2:167085353 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3871A>G (p.Thr1291Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003166912]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001326194] |
Chr2:166233393 [GRCh38]
Chr2:167089903 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4656G>A (p.Val1552=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359347] |
Chr2:166204073 [GRCh38]
Chr2:167060583 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3690C>G (p.Asp1230Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359408] |
Chr2:166238205 [GRCh38]
Chr2:167094715 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5018A>C (p.Asp1673Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001359532] |
Chr2:166199621 [GRCh38]
Chr2:167056131 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5492T>G (p.Val1831Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001365822] |
Chr2:166199147 [GRCh38]
Chr2:167055657 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4244C>T (p.Ala1415Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001306295] |
Chr2:166227686 [GRCh38]
Chr2:167084196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4618A>T (p.Ser1540Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001339750] |
Chr2:166204111 [GRCh38]
Chr2:167060621 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4170T>C (p.Asp1390=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001502168] |
Chr2:166228727 [GRCh38]
Chr2:167085237 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4923T>G (p.Leu1641=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001494831] |
Chr2:166199716 [GRCh38]
Chr2:167056226 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2204del (p.Lys735fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001380109] |
Chr2:166280496 [GRCh38]
Chr2:167137006 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.377+7T>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001527654] |
Chr2:166306949 [GRCh38]
Chr2:167163459 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3903A>G (p.Leu1301=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001417027] |
Chr2:166233361 [GRCh38]
Chr2:167089871 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5100G>A (p.Trp1700Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001380256] |
Chr2:166199539 [GRCh38]
Chr2:167056049 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3282G>A (p.Gly1094=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001453639] |
Chr2:166272468 [GRCh38]
Chr2:167128978 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.78C>T (p.Arg26=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001501993] |
Chr2:166311679 [GRCh38]
Chr2:167168189 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2052C>T (p.Asn684=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001451162]|not provided [RCV003438803] |
Chr2:166281731 [GRCh38]
Chr2:167138241 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4399-10G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001417097] |
Chr2:166204474 [GRCh38]
Chr2:167060984 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5748C>T (p.Tyr1916=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001502229] |
Chr2:166198891 [GRCh38]
Chr2:167055401 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1665T>C (p.Phe555=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001484360] |
Chr2:166284762 [GRCh38]
Chr2:167141272 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5049C>T (p.Thr1683=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001496174] |
Chr2:166199590 [GRCh38]
Chr2:167056100 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.891A>G (p.Glu297=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454244] |
Chr2:166303100 [GRCh38]
Chr2:167159610 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5142C>T (p.Asp1714=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001492567] |
Chr2:166199497 [GRCh38]
Chr2:167056007 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1905A>G (p.Ser635=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001483116] |
Chr2:166284522 [GRCh38]
Chr2:167141032 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.849T>C (p.Asn283=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001480471] |
Chr2:166303142 [GRCh38]
Chr2:167159652 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1108-2A>G |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001528149] |
Chr2:166288645 [GRCh38]
Chr2:167145155 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2286T>C (p.Ala762=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001426270] |
Chr2:166280414 [GRCh38]
Chr2:167136924 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.270A>G (p.Val90=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001483133] |
Chr2:166307063 [GRCh38]
Chr2:167163573 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4863A>C (p.Leu1621=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001487248] |
Chr2:166199776 [GRCh38]
Chr2:167056286 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4728A>G (p.Val1576=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001489415] |
Chr2:166204001 [GRCh38]
Chr2:167060511 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3381C>T (p.Cys1127=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001429230] |
Chr2:166251856 [GRCh38]
Chr2:167108366 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1815C>T (p.Ala605=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001406183] |
Chr2:166284612 [GRCh38]
Chr2:167141122 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4164C>T (p.Asn1388=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001489574] |
Chr2:166228733 [GRCh38]
Chr2:167085243 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5868T>A (p.Pro1956=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001491783] |
Chr2:166198771 [GRCh38]
Chr2:167055281 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4855C>T (p.Arg1619Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001388675]|not provided [RCV001780365] |
Chr2:166199784 [GRCh38]
Chr2:167056294 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.4645T>A (p.Trp1549Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001493286] |
Chr2:166204084 [GRCh38]
Chr2:167060594 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.267A>C (p.Ile89=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001498571]|not provided [RCV003325577] |
Chr2:166307066 [GRCh38]
Chr2:167163576 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.3009A>G (p.Lys1003=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001424086] |
Chr2:166272741 [GRCh38]
Chr2:167129251 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1866G>A (p.Val622=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001393698] |
Chr2:166284561 [GRCh38]
Chr2:167141071 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5928G>A (p.Lys1976=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001501972] |
Chr2:166198711 [GRCh38]
Chr2:167055221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4881A>G (p.Ala1627=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001493675] |
Chr2:166199758 [GRCh38]
Chr2:167056268 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2973A>G (p.Ala991=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001401762] |
Chr2:166272777 [GRCh38]
Chr2:167129287 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3285A>G (p.Glu1095=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001440633] |
Chr2:166272465 [GRCh38]
Chr2:167128975 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.276C>T (p.Asn92=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001409256] |
Chr2:166307057 [GRCh38]
Chr2:167163567 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.750C>A (p.Ile250=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001430000] |
Chr2:166303241 [GRCh38]
Chr2:167159751 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2727C>T (p.His909=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001443465] |
Chr2:166277130 [GRCh38]
Chr2:167133640 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.966-8G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001399571] |
Chr2:166293380 [GRCh38]
Chr2:167149890 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2667dup (p.Lys890Ter) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001389492] |
Chr2:166277189..166277190 [GRCh38]
Chr2:167133699..167133700 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2880A>C (p.Leu960=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001407018] |
Chr2:166272870 [GRCh38]
Chr2:167129380 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3330G>A (p.Ser1110=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001409509] |
Chr2:166272420 [GRCh38]
Chr2:167128930 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.688+8G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001399788] |
Chr2:166304230 [GRCh38]
Chr2:167160740 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2628C>T (p.Ile876=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001407315] |
Chr2:166277229 [GRCh38]
Chr2:167133739 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2391C>A (p.Ala797=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001446539] |
Chr2:166278266 [GRCh38]
Chr2:167134776 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.192G>A (p.Gly64=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001437336] |
Chr2:166311565 [GRCh38]
Chr2:167168075 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5304A>G (p.Glu1768=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001399377] |
Chr2:166199335 [GRCh38]
Chr2:167055845 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5850A>C (p.Ser1950=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001446441] |
Chr2:166198789 [GRCh38]
Chr2:167055299 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4656G>T (p.Val1552=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001426685] |
Chr2:166204073 [GRCh38]
Chr2:167060583 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1776C>T (p.His592=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001430605] |
Chr2:166284651 [GRCh38]
Chr2:167141161 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2814C>T (p.Val938=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001407523] |
Chr2:166277043 [GRCh38]
Chr2:167133553 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4206+9C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001407731] |
Chr2:166228682 [GRCh38]
Chr2:167085192 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4368C>T (p.Ile1456=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001418912]|not provided [RCV003481107] |
Chr2:166226597 [GRCh38]
Chr2:167083107 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.116del (p.Lys39fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001388488] |
Chr2:166311641 [GRCh38]
Chr2:167168151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_167055172)_(167060984_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387896] |
Chr2:167055172..167060984 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5004T>A (p.Tyr1668Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001381126] |
Chr2:166199635 [GRCh38]
Chr2:167056145 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4452A>C (p.Ala1484=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001405736] |
Chr2:166204411 [GRCh38]
Chr2:167060921 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4207-5T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001410655] |
Chr2:166227728 [GRCh38]
Chr2:167084238 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4398+2T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001379376] |
Chr2:166226565 [GRCh38]
Chr2:167083075 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.981G>A (p.Gly327=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001416106] |
Chr2:166293357 [GRCh38]
Chr2:167149867 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.114A>G (p.Glu38=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001429016] |
Chr2:166311643 [GRCh38]
Chr2:167168153 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1353G>A (p.Arg451=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001431625] |
Chr2:166286585 [GRCh38]
Chr2:167143095 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.180C>T (p.Pro60=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001431701] |
Chr2:166311577 [GRCh38]
Chr2:167168087 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2658G>A (p.Gln886=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001447751] |
Chr2:166277199 [GRCh38]
Chr2:167133709 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4935T>C (p.Phe1645=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001440415] |
Chr2:166199704 [GRCh38]
Chr2:167056214 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2146A>C (p.Arg716=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001442364]|not provided [RCV002276518] |
Chr2:166280554 [GRCh38]
Chr2:167137064 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4950G>C (p.Leu1650=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001447654] |
Chr2:166199689 [GRCh38]
Chr2:167056199 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3153T>C (p.Asn1051=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001419239] |
Chr2:166272597 [GRCh38]
Chr2:167129107 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5724T>C (p.Asn1908=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001439035] |
Chr2:166198915 [GRCh38]
Chr2:167055425 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2277A>G (p.Leu759=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001424231]|not provided [RCV002227274] |
Chr2:166280423 [GRCh38]
Chr2:167136933 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3801+1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001391018] |
Chr2:166238093 [GRCh38]
Chr2:167094603 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3088C>T (p.Leu1030=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001435190] |
Chr2:166272662 [GRCh38]
Chr2:167129172 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4986A>G (p.Gly1662=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001427610] |
Chr2:166199653 [GRCh38]
Chr2:167056163 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4668C>A (p.Ile1556=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001448401]|not provided [RCV001796500] |
Chr2:166204061 [GRCh38]
Chr2:167060571 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.204C>T (p.Pro68=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001426017] |
Chr2:166311553 [GRCh38]
Chr2:167168063 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4503+8A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001419718]|SCN9A-related condition [RCV003908614] |
Chr2:166204352 [GRCh38]
Chr2:167060862 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3741A>T (p.Ala1247=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001406616] |
Chr2:166238154 [GRCh38]
Chr2:167094664 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4047G>A (p.Glu1349=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001457503] |
Chr2:166228850 [GRCh38]
Chr2:167085360 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4947C>T (p.Leu1649=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454248] |
Chr2:166199692 [GRCh38]
Chr2:167056202 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1101C>T (p.Tyr367=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001450505] |
Chr2:166293237 [GRCh38]
Chr2:167149747 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3327T>C (p.Asp1109=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454534] |
Chr2:166272423 [GRCh38]
Chr2:167128933 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2295C>T (p.His765=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001502602] |
Chr2:166280405 [GRCh38]
Chr2:167136915 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1398C>A (p.Ser466=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001473245] |
Chr2:166286540 [GRCh38]
Chr2:167143050 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.259-5T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001502070] |
Chr2:166307079 [GRCh38]
Chr2:167163589 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1314+4C>T |
single nucleotide variant |
not provided [RCV001509168] |
Chr2:166288433 [GRCh38]
Chr2:167144943 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.924A>T (p.Gly308=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001495750] |
Chr2:166294640 [GRCh38]
Chr2:167151150 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3840C>T (p.Tyr1280=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001451400] |
Chr2:166233424 [GRCh38]
Chr2:167089934 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3234A>G (p.Ser1078=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001483059] |
Chr2:166272516 [GRCh38]
Chr2:167129026 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1585T>C (p.Leu529=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001496540] |
Chr2:166286353 [GRCh38]
Chr2:167142863 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4866T>A (p.Arg1622=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001496901] |
Chr2:166199773 [GRCh38]
Chr2:167056283 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2316C>T (p.Phe772=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001476871] |
Chr2:166280384 [GRCh38]
Chr2:167136894 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.876C>T (p.Thr292=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001500131] |
Chr2:166303115 [GRCh38]
Chr2:167159625 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4824G>T (p.Leu1608=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001500340] |
Chr2:166199815 [GRCh38]
Chr2:167056325 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1161C>T (p.Phe387=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001470510] |
Chr2:166288590 [GRCh38]
Chr2:167145100 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4930T>C (p.Leu1644=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001470683] |
Chr2:166199709 [GRCh38]
Chr2:167056219 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.906T>C (p.Tyr302=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001481179] |
Chr2:166294658 [GRCh38]
Chr2:167151168 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4365C>T (p.Val1455=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001425136] |
Chr2:166226600 [GRCh38]
Chr2:167083110 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2874+12G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002070358]|not provided [RCV001529286] |
Chr2:166276971 [GRCh38]
Chr2:167133481 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1303G>A (p.Glu435Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001859354]|not provided [RCV001509169] |
Chr2:166288448 [GRCh38]
Chr2:167144958 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2931A>G (p.Thr977=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001450400] |
Chr2:166272819 [GRCh38]
Chr2:167129329 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2271C>T (p.Asn757=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001453021] |
Chr2:166280429 [GRCh38]
Chr2:167136939 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4245A>C (p.Ala1415=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001417339] |
Chr2:166227685 [GRCh38]
Chr2:167084195 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4059C>T (p.Thr1353=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001490475] |
Chr2:166228838 [GRCh38]
Chr2:167085348 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3706A>G (p.Ile1236Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002564246]|not provided [RCV001508459] |
Chr2:166238189 [GRCh38]
Chr2:167094699 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2322T>A (p.Asn774Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002564247]|not provided [RCV001508462] |
Chr2:166280378 [GRCh38]
Chr2:167136888 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2901A>G (p.Leu967=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001495272] |
Chr2:166272849 [GRCh38]
Chr2:167129359 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4644T>C (p.Tyr1548=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001464213] |
Chr2:166204085 [GRCh38]
Chr2:167060595 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001390706] |
Chr2:166278248 [GRCh38]
Chr2:167134758 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.978G>A (p.Glu326=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001506183] |
Chr2:166293360 [GRCh38]
Chr2:167149870 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4261-7T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001473909] |
Chr2:166226711 [GRCh38]
Chr2:167083221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1365T>C (p.Ile455=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001501941] |
Chr2:166286573 [GRCh38]
Chr2:167143083 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4374T>C (p.Asp1458=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001465803] |
Chr2:166226591 [GRCh38]
Chr2:167083101 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1053C>T (p.Phe351=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454170] |
Chr2:166293285 [GRCh38]
Chr2:167149795 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4775-4A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001403842] |
Chr2:166199868 [GRCh38]
Chr2:167056378 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3855C>T (p.Pro1285=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001406299] |
Chr2:166233409 [GRCh38]
Chr2:167089919 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-9T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001458833] |
Chr2:166281817 [GRCh38]
Chr2:167138327 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_166605291)_(167168266_?)del |
deletion |
not provided [RCV001388756] |
Chr2:166605291..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5139C>A (p.Pro1713=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001459285] |
Chr2:166199500 [GRCh38]
Chr2:167056010 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2718A>G (p.Pro906=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001404021] |
Chr2:166277139 [GRCh38]
Chr2:167133649 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2952T>C (p.Asp984=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454811] |
Chr2:166272798 [GRCh38]
Chr2:167129308 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4207-8T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001462001] |
Chr2:166227731 [GRCh38]
Chr2:167084241 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5256G>T (p.Val1752=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001406731] |
Chr2:166199383 [GRCh38]
Chr2:167055893 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.596+1G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001378503] |
Chr2:166305791 [GRCh38]
Chr2:167162301 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.177G>T (p.Leu59=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001418076] |
Chr2:166311580 [GRCh38]
Chr2:167168090 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2517+1G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001376830] |
Chr2:166278139 [GRCh38]
Chr2:167134649 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.3456G>A (p.Glu1152=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001407284] |
Chr2:166251781 [GRCh38]
Chr2:167108291 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4563C>A (p.Ile1521=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001500998] |
Chr2:166204166 [GRCh38]
Chr2:167060676 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.966-8G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001468026] |
Chr2:166293380 [GRCh38]
Chr2:167149890 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1611C>T (p.Leu537=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001468048] |
Chr2:166284816 [GRCh38]
Chr2:167141326 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3015C>T (p.Thr1005=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001416383] |
Chr2:166272735 [GRCh38]
Chr2:167129245 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.780A>G (p.Ala260=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001454877] |
Chr2:166303211 [GRCh38]
Chr2:167159721 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.69T>C (p.Ile23=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001462118] |
Chr2:166311688 [GRCh38]
Chr2:167168198 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2504G>A (p.Arg835Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001865943]|not provided [RCV001508460] |
Chr2:166278153 [GRCh38]
Chr2:167134663 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5102A>G (p.Asp1701Gly) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001730078] |
Chr2:166199537 [GRCh38]
Chr2:167056047 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5272G>C (p.Val1758Leu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001775056] |
Chr2:166199367 [GRCh38]
Chr2:167055877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.20C>G (p.Pro7Arg) |
single nucleotide variant |
not provided [RCV002272106] |
Chr2:166311737 [GRCh38]
Chr2:167168247 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1937C>G (p.Pro646Arg) |
single nucleotide variant |
not provided [RCV001760810] |
Chr2:166284490 [GRCh38]
Chr2:167141000 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2903T>C (p.Leu968Ser) |
single nucleotide variant |
not provided [RCV001763171] |
Chr2:166272847 [GRCh38]
Chr2:167129357 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4198C>A (p.Leu1400Ile) |
single nucleotide variant |
not provided [RCV001752583] |
Chr2:166228699 [GRCh38]
Chr2:167085209 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4827C>G (p.Phe1609Leu) |
single nucleotide variant |
not provided [RCV001756291] |
Chr2:166199812 [GRCh38]
Chr2:167056322 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1801A>C (p.Asn601His) |
single nucleotide variant |
not provided [RCV001758028] |
Chr2:166284626 [GRCh38]
Chr2:167141136 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3301A>G (p.Met1101Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002324171]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001882798]|not provided [RCV001732893] |
Chr2:166272449 [GRCh38]
Chr2:167128959 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002544153]|not provided [RCV001773233]|not specified [RCV003479349] |
Chr2:166198685 [GRCh38]
Chr2:167055195 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3632T>C (p.Phe1211Ser) |
single nucleotide variant |
not provided [RCV001767211] |
Chr2:166238263 [GRCh38]
Chr2:167094773 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5497G>A (p.Gly1833Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002343836]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002540604]|not provided [RCV001774687] |
Chr2:166199142 [GRCh38]
Chr2:167055652 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1 |
copy number loss |
Severe myoclonic epilepsy in infancy [RCV001801211] |
Chr2:166152284..167760450 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3420A>C (p.Glu1140Asp) |
single nucleotide variant |
not provided [RCV001751954] |
Chr2:166251817 [GRCh38]
Chr2:167108327 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1107+48C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001807560]|Paroxysmal extreme pain disorder [RCV001807561]|Primary erythromelalgia [RCV001807559] |
Chr2:166293183 [GRCh38]
Chr2:167149693 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.223C>G (p.Leu75Val) |
single nucleotide variant |
not provided [RCV001806881] |
Chr2:166311534 [GRCh38]
Chr2:167168044 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4206+6del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001885253]|not provided [RCV001806622] |
Chr2:166228685 [GRCh38]
Chr2:167085195 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596+25C>T |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001807563]|Paroxysmal extreme pain disorder [RCV001807564]|Primary erythromelalgia [RCV001807562] |
Chr2:166305767 [GRCh38]
Chr2:167162277 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.4157A>G (p.Lys1386Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001929723] |
Chr2:166228740 [GRCh38]
Chr2:167085250 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4477C>G (p.Pro1493Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001914856] |
Chr2:166204386 [GRCh38]
Chr2:167060896 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1699G>A (p.Glu567Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001915029] |
Chr2:166284728 [GRCh38]
Chr2:167141238 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3796_3801+23del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002024904] |
Chr2:166238071..166238099 [GRCh38]
Chr2:167094581..167094609 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.428T>C (p.Met143Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001864642] |
Chr2:166306549 [GRCh38]
Chr2:167163059 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.265A>G (p.Ile89Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002425356]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002005460] |
Chr2:166307068 [GRCh38]
Chr2:167163578 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4810G>C (p.Val1604Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001949822] |
Chr2:166199829 [GRCh38]
Chr2:167056339 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4171A>G (p.Asn1391Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001896001]|not provided [RCV003148998] |
Chr2:166228726 [GRCh38]
Chr2:167085236 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3247C>G (p.Pro1083Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001988464] |
Chr2:166272503 [GRCh38]
Chr2:167129013 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2153C>A (p.Ala718Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001928338] |
Chr2:166280547 [GRCh38]
Chr2:167137057 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3845A>T (p.Asp1282Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001971097] |
Chr2:166233419 [GRCh38]
Chr2:167089929 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.915C>A (p.Tyr305Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001947758] |
Chr2:166294649 [GRCh38]
Chr2:167151159 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.142A>G (p.Lys48Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001893986] |
Chr2:166311615 [GRCh38]
Chr2:167168125 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1445A>G (p.Lys482Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001985949] |
Chr2:166286493 [GRCh38]
Chr2:167143003 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4645_4646inv (p.Trp1549Gln) |
inversion |
Inborn genetic diseases [RCV002334947]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001950742] |
Chr2:166204083..166204084 [GRCh38]
Chr2:167060593..167060594 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2334A>G (p.Ile778Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001987777] |
Chr2:166280366 [GRCh38]
Chr2:167136876 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.586A>T (p.Ile196Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002045212] |
Chr2:166305802 [GRCh38]
Chr2:167162312 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3085G>T (p.Asp1029Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001915258] |
Chr2:166272665 [GRCh38]
Chr2:167129175 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2343+4A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002009133] |
Chr2:166280353 [GRCh38]
Chr2:167136863 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5474C>A (p.Ala1825Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001983912] |
Chr2:166199165 [GRCh38]
Chr2:167055675 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3512A>G (p.Glu1171Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001863738] |
Chr2:166242617 [GRCh38]
Chr2:167099127 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1574A>G (p.His525Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002021766] |
Chr2:166286364 [GRCh38]
Chr2:167142874 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.865A>G (p.Ile289Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001930016] |
Chr2:166303126 [GRCh38]
Chr2:167159636 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5915A>G (p.Asp1972Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001967147] |
Chr2:166198724 [GRCh38]
Chr2:167055234 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.467+13A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001914596] |
Chr2:166306497 [GRCh38]
Chr2:167163007 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3869G>C (p.Arg1290Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001965895] |
Chr2:166233395 [GRCh38]
Chr2:167089905 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5369A>T (p.Asp1790Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001912824] |
Chr2:166199270 [GRCh38]
Chr2:167055780 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3121C>G (p.His1041Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002324427]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002002869] |
Chr2:166272629 [GRCh38]
Chr2:167129139 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2796G>C (p.Met932Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001968722] |
Chr2:166277061 [GRCh38]
Chr2:167133571 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5910A>T (p.Glu1970Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001967939] |
Chr2:166198729 [GRCh38]
Chr2:167055239 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3878G>C (p.Arg1293Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002040313] |
Chr2:166233386 [GRCh38]
Chr2:167089896 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2539A>G (p.Lys847Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001907673] |
Chr2:166277318 [GRCh38]
Chr2:167133828 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3266T>A (p.Val1089Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001985997] |
Chr2:166272484 [GRCh38]
Chr2:167128994 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3398C>T (p.Pro1133Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002458652]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002039831] |
Chr2:166251839 [GRCh38]
Chr2:167108349 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5096G>A (p.Gly1699Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001966642] |
Chr2:166199543 [GRCh38]
Chr2:167056053 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.466G>A (p.Glu156Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001908025] |
Chr2:166306511 [GRCh38]
Chr2:167163021 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4037A>G (p.Lys1346Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002040664] |
Chr2:166228860 [GRCh38]
Chr2:167085370 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4504-15_4504-10del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002022218] |
Chr2:166204235..166204240 [GRCh38]
Chr2:167060745..167060750 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2507C>A (p.Ser836Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002004971] |
Chr2:166278150 [GRCh38]
Chr2:167134660 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3838T>A (p.Tyr1280Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001983978] |
Chr2:166233426 [GRCh38]
Chr2:167089936 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2829G>A (p.Met943Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001926738] |
Chr2:166277028 [GRCh38]
Chr2:167133538 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2996T>C (p.Ile999Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001892187] |
Chr2:166272754 [GRCh38]
Chr2:167129264 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.378-1C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002003305]|not provided [RCV003134320] |
Chr2:166306600 [GRCh38]
Chr2:167163110 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001365536.1(SCN9A):c.1678_1679insCT (p.Arg560fs) |
insertion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001911206] |
Chr2:166284748..166284749 [GRCh38]
Chr2:167141258..167141259 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4567G>A (p.Val1523Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003170097]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001982785] |
Chr2:166204162 [GRCh38]
Chr2:167060672 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1692A>G (p.Ile564Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001892640] |
Chr2:166284735 [GRCh38]
Chr2:167141245 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2344-2A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002006442] |
Chr2:166278315 [GRCh38]
Chr2:167134825 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1602+1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001970422] |
Chr2:166286335 [GRCh38]
Chr2:167142845 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.5402A>C (p.Lys1801Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001909557] |
Chr2:166199237 [GRCh38]
Chr2:167055747 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4331G>A (p.Gly1444Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001968729] |
Chr2:166226634 [GRCh38]
Chr2:167083144 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3518G>T (p.Gly1173Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001948820] |
Chr2:166242611 [GRCh38]
Chr2:167099121 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3080C>A (p.Ala1027Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002042174] |
Chr2:166272670 [GRCh38]
Chr2:167129180 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2795T>C (p.Met932Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001872960] |
Chr2:166277062 [GRCh38]
Chr2:167133572 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.918G>A (p.Leu306=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001891325] |
Chr2:166294646 [GRCh38]
Chr2:167151156 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.4260T>C (p.Asn1420=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002044002] |
Chr2:166227670 [GRCh38]
Chr2:167084180 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4184G>T (p.Gly1395Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001870754] |
Chr2:166228713 [GRCh38]
Chr2:167085223 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3610C>T (p.Leu1204Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002042321] |
Chr2:166242519 [GRCh38]
Chr2:167099029 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3881C>T (p.Ala1294Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002022418] |
Chr2:166233383 [GRCh38]
Chr2:167089893 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5374G>T (p.Asp1792Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001986133] |
Chr2:166199265 [GRCh38]
Chr2:167055775 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5696C>T (p.Ala1899Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002044021] |
Chr2:166198943 [GRCh38]
Chr2:167055453 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2876T>A (p.Val959Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001908252] |
Chr2:166272874 [GRCh38]
Chr2:167129384 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5705G>T (p.Arg1902Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001872163] |
Chr2:166198934 [GRCh38]
Chr2:167055444 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1028G>A (p.Ser343Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001895398]|not provided [RCV003490912] |
Chr2:166293310 [GRCh38]
Chr2:167149820 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1180A>C (p.Ile394Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002002090] |
Chr2:166288571 [GRCh38]
Chr2:167145081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4082C>A (p.Ala1361Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001964496] |
Chr2:166228815 [GRCh38]
Chr2:167085325 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2854A>C (p.Met952Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001945628] |
Chr2:166277003 [GRCh38]
Chr2:167133513 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5901G>C (p.Glu1967Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001871180] |
Chr2:166198738 [GRCh38]
Chr2:167055248 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5741G>A (p.Ser1914Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002022496] |
Chr2:166198898 [GRCh38]
Chr2:167055408 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4102T>C (p.Ser1368Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001969639] |
Chr2:166228795 [GRCh38]
Chr2:167085305 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.446C>T (p.Pro149Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001945829] |
Chr2:166306531 [GRCh38]
Chr2:167163041 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3287C>A (p.Ser1096Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002007993] |
Chr2:166272463 [GRCh38]
Chr2:167128973 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2303T>A (p.Met768Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001908946] |
Chr2:166280397 [GRCh38]
Chr2:167136907 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2960A>G (p.Asn987Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001948659] |
Chr2:166272790 [GRCh38]
Chr2:167129300 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4211C>T (p.Thr1404Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001948979] |
Chr2:166227719 [GRCh38]
Chr2:167084229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4658T>A (p.Val1553Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002022170] |
Chr2:166204071 [GRCh38]
Chr2:167060581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4768A>C (p.Ile1590Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001968600] |
Chr2:166203961 [GRCh38]
Chr2:167060471 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5324G>A (p.Ser1775Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002024265] |
Chr2:166199315 [GRCh38]
Chr2:167055825 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3856A>G (p.Ile1286Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001870830] |
Chr2:166233408 [GRCh38]
Chr2:167089918 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4537A>G (p.Thr1513Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001890877] |
Chr2:166204192 [GRCh38]
Chr2:167060702 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790) |
copy number loss |
not specified [RCV002053257] |
Chr2:161551326..167762790 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296) |
copy number gain |
not specified [RCV002053259] |
Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3823G>T (p.Ala1275Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001968053] |
Chr2:166233441 [GRCh38]
Chr2:167089951 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3883T>G (p.Leu1295Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002361196]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001893613] |
Chr2:166233381 [GRCh38]
Chr2:167089891 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3701C>T (p.Thr1234Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001967797] |
Chr2:166238194 [GRCh38]
Chr2:167094704 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2277A>T (p.Leu759Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001964335] |
Chr2:166280423 [GRCh38]
Chr2:167136933 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5198C>T (p.Pro1733Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001908159] |
Chr2:166199441 [GRCh38]
Chr2:167055951 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2530_2531delinsCG (p.Lys844Arg) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002021213] |
Chr2:166277326..166277327 [GRCh38]
Chr2:167133836..167133837 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503G>C (p.Gly1501=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001910799] |
Chr2:166204360 [GRCh38]
Chr2:167060870 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.745A>G (p.Met249Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001890239] |
Chr2:166303246 [GRCh38]
Chr2:167159756 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1261T>G (p.Leu421Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002002914] |
Chr2:166288490 [GRCh38]
Chr2:167145000 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.443_444inv (p.Pro148Leu) |
inversion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001946133] |
Chr2:166306533..166306534 [GRCh38]
Chr2:167163043..167163044 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2906G>C (p.Ser969Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002039750] |
Chr2:166272844 [GRCh38]
Chr2:167129354 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4753G>A (p.Val1585Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002000518] |
Chr2:166203976 [GRCh38]
Chr2:167060486 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166897721)_(167163604_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001940048]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001916373] |
Chr2:166897721..167163604 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3440A>C (p.Asn1147Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002015754] |
Chr2:166251797 [GRCh38]
Chr2:167108307 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1659T>G (p.Ser553Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001944005] |
Chr2:166284768 [GRCh38]
Chr2:167141278 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1227C>A (p.Asn409Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001924424] |
Chr2:166288524 [GRCh38]
Chr2:167145034 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3617G>A (p.Ser1206Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001926221] |
Chr2:166242512 [GRCh38]
Chr2:167099022 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1883T>C (p.Val628Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001995200] |
Chr2:166284544 [GRCh38]
Chr2:167141054 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.239C>T (p.Pro80Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001944436] |
Chr2:166311518 [GRCh38]
Chr2:167168028 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1614C>A (p.Ser538Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002048173] |
Chr2:166284813 [GRCh38]
Chr2:167141323 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4406G>A (p.Gly1469Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001997309] |
Chr2:166204457 [GRCh38]
Chr2:167060967 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1470T>A (p.Ser490Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001887764] |
Chr2:166286468 [GRCh38]
Chr2:167142978 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4643A>G (p.Tyr1548Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002001296] |
Chr2:166204086 [GRCh38]
Chr2:167060596 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2074A>G (p.Arg692Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001944213] |
Chr2:166281709 [GRCh38]
Chr2:167138219 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002012064] |
Chr2:166288634 [GRCh38]
Chr2:167145144 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4750G>T (p.Val1584Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002020192] |
Chr2:166203979 [GRCh38]
Chr2:167060489 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3818del (p.Thr1272_Leu1273insTer) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001971830] |
Chr2:166233446 [GRCh38]
Chr2:167089956 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.529T>A (p.Cys177Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001934206] |
Chr2:166305859 [GRCh38]
Chr2:167162369 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2909C>T (p.Ser970Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002033177] |
Chr2:166272841 [GRCh38]
Chr2:167129351 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2308G>A (p.Glu770Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001962589] |
Chr2:166280392 [GRCh38]
Chr2:167136902 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4994A>G (p.Asn1665Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002000534] |
Chr2:166199645 [GRCh38]
Chr2:167056155 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4991C>A (p.Ser1664Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001961789] |
Chr2:166199648 [GRCh38]
Chr2:167056158 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1607C>T (p.Pro536Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001942470] |
Chr2:166284820 [GRCh38]
Chr2:167141330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2800G>T (p.Asp934Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001943376] |
Chr2:166277057 [GRCh38]
Chr2:167133567 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5477T>G (p.Met1826Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001919828] |
Chr2:166199162 [GRCh38]
Chr2:167055672 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4025T>C (p.Leu1342Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001923198] |
Chr2:166228872 [GRCh38]
Chr2:167085382 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.386G>A (p.Ser129Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001997974] |
Chr2:166306591 [GRCh38]
Chr2:167163101 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4819A>C (p.Thr1607Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002037390] |
Chr2:166199820 [GRCh38]
Chr2:167056330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.289A>G (p.Ile97Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002001014] |
Chr2:166307044 [GRCh38]
Chr2:167163554 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3481_3482inv (p.Trp1161Gln) |
inversion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001888788] |
Chr2:166242647..166242648 [GRCh38]
Chr2:167099157..167099158 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3542T>A (p.Ile1181Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001979431] |
Chr2:166242587 [GRCh38]
Chr2:167099097 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.587T>C (p.Ile196Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002352737]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001999551] |
Chr2:166305801 [GRCh38]
Chr2:167162311 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2823A>T (p.Gln941His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002050240] |
Chr2:166277034 [GRCh38]
Chr2:167133544 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.515T>C (p.Leu172Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001888342] |
Chr2:166305873 [GRCh38]
Chr2:167162383 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.775T>C (p.Phe259Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001997012] |
Chr2:166303216 [GRCh38]
Chr2:167159726 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.467+16T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001956940] |
Chr2:166306494 [GRCh38]
Chr2:167163004 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002033865] |
Chr2:166305829 [GRCh38]
Chr2:167162339 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1407C>A (p.Ser469Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001942597]|Primary erythromelalgia [RCV002290783] |
Chr2:166286531 [GRCh38]
Chr2:167143041 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3365C>T (p.Ser1122Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001943821] |
Chr2:166251872 [GRCh38]
Chr2:167108382 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4832T>C (p.Val1611Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001958164] |
Chr2:166199807 [GRCh38]
Chr2:167056317 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3809T>C (p.Leu1270Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002012706] |
Chr2:166233455 [GRCh38]
Chr2:167089965 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5693G>A (p.Arg1898His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001993541] |
Chr2:166198946 [GRCh38]
Chr2:167055456 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2020C>T (p.Leu674Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001902502] |
Chr2:166281763 [GRCh38]
Chr2:167138273 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1585T>A (p.Leu529Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001935769] |
Chr2:166286353 [GRCh38]
Chr2:167142863 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3072A>G (p.Ile1024Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001900350] |
Chr2:166272678 [GRCh38]
Chr2:167129188 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.67A>C (p.Ile23Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001977388] |
Chr2:166311690 [GRCh38]
Chr2:167168200 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.599A>G (p.Tyr200Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001903121] |
Chr2:166304327 [GRCh38]
Chr2:167160837 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1261T>A (p.Leu421Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001993915] |
Chr2:166288490 [GRCh38]
Chr2:167145000 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3174A>T (p.Lys1058Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001920711] |
Chr2:166272576 [GRCh38]
Chr2:167129086 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2017T>C (p.Tyr673His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001920715] |
Chr2:166281766 [GRCh38]
Chr2:167138276 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2699A>G (p.Asn900Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001921268] |
Chr2:166277158 [GRCh38]
Chr2:167133668 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2032G>A (p.Asp678Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001954377] |
Chr2:166281751 [GRCh38]
Chr2:167138261 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3076C>A (p.Gln1026Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002443069]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002030861] |
Chr2:166272674 [GRCh38]
Chr2:167129184 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.116A>G (p.Lys39Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002010590] |
Chr2:166311641 [GRCh38]
Chr2:167168151 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4796T>C (p.Ile1599Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002028378] |
Chr2:166199843 [GRCh38]
Chr2:167056353 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3335G>T (p.Ser1112Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002028381] |
Chr2:166272415 [GRCh38]
Chr2:167128925 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4570C>T (p.Leu1524Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001954554] |
Chr2:166204159 [GRCh38]
Chr2:167060669 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2754_2756del (p.Ile919del) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001903819] |
Chr2:166277101..166277103 [GRCh38]
Chr2:167133611..167133613 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5656C>T (p.Arg1886Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001958346] |
Chr2:166198983 [GRCh38]
Chr2:167055493 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4668C>G (p.Ile1556Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001994030] |
Chr2:166204061 [GRCh38]
Chr2:167060571 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.914A>G (p.Tyr305Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001881142] |
Chr2:166294650 [GRCh38]
Chr2:167151160 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1318A>G (p.Ile440Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001881732] |
Chr2:166286620 [GRCh38]
Chr2:167143130 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3130G>C (p.Ala1044Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001880633] |
Chr2:166272620 [GRCh38]
Chr2:167129130 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3924+1G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002028518] |
Chr2:166233339 [GRCh38]
Chr2:167089849 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1168T>C (p.Ser390Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001935977] |
Chr2:166288583 [GRCh38]
Chr2:167145093 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1285C>G (p.Arg429Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001919865] |
Chr2:166288466 [GRCh38]
Chr2:167144976 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4828C>T (p.Arg1610Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002012270] |
Chr2:166199811 [GRCh38]
Chr2:167056321 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2372T>C (p.Met791Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002046163] |
Chr2:166278285 [GRCh38]
Chr2:167134795 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3352-1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001993168] |
Chr2:166251886 [GRCh38]
Chr2:167108396 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5389A>C (p.Ile1797Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001903416] |
Chr2:166199250 [GRCh38]
Chr2:167055760 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1462C>G (p.Leu488Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001877038] |
Chr2:166286476 [GRCh38]
Chr2:167142986 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5245C>G (p.Leu1749Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001973659] |
Chr2:166199394 [GRCh38]
Chr2:167055904 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5692C>A (p.Arg1898Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002346306]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002026725] |
Chr2:166198947 [GRCh38]
Chr2:167055457 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5668G>T (p.Asp1890Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001878485] |
Chr2:166198971 [GRCh38]
Chr2:167055481 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3274G>A (p.Ala1092Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002011522] |
Chr2:166272476 [GRCh38]
Chr2:167128986 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2858T>G (p.Val953Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002047974] |
Chr2:166276999 [GRCh38]
Chr2:167133509 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4885G>A (p.Gly1629Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001998710] |
Chr2:166199754 [GRCh38]
Chr2:167056264 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1008C>T (p.Asn336=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001933624] |
Chr2:166293330 [GRCh38]
Chr2:167149840 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3019C>G (p.Arg1007Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001921372] |
Chr2:166272731 [GRCh38]
Chr2:167129241 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3196G>A (p.Val1066Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002018201] |
Chr2:166272554 [GRCh38]
Chr2:167129064 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3183_3199del (p.Phe1062fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001880283] |
Chr2:166272551..166272567 [GRCh38]
Chr2:167129061..167129077 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2807T>C (p.Met936Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001880311] |
Chr2:166277050 [GRCh38]
Chr2:167133560 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4195_4196del (p.Leu1399fs) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001881264] |
Chr2:166228701..166228702 [GRCh38]
Chr2:167085211..167085212 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_167089840)_(167089982_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001980632] |
Chr2:167089840..167089982 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1805T>A (p.Ile602Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002018866] |
Chr2:166284622 [GRCh38]
Chr2:167141132 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3140G>A (p.Ser1047Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001960930] |
Chr2:166272610 [GRCh38]
Chr2:167129120 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2647G>A (p.Val883Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002036656] |
Chr2:166277210 [GRCh38]
Chr2:167133720 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2482G>A (p.Val828Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001899352] |
Chr2:166278175 [GRCh38]
Chr2:167134685 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2664T>G (p.Phe888Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002018290] |
Chr2:166277193 [GRCh38]
Chr2:167133703 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.53A>T (p.Gln18Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002050940] |
Chr2:166311704 [GRCh38]
Chr2:167168214 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3169G>A (p.Asp1057Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001978758]|not provided [RCV002307801] |
Chr2:166272581 [GRCh38]
Chr2:167129091 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4630A>G (p.Thr1544Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001883904] |
Chr2:166204099 [GRCh38]
Chr2:167060609 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4771G>A (p.Val1591Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001959846] |
Chr2:166203958 [GRCh38]
Chr2:167060468 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3472+6A>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002036226] |
Chr2:166251759 [GRCh38]
Chr2:167108269 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.714G>T (p.Leu238Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001982457] |
Chr2:166303277 [GRCh38]
Chr2:167159787 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1771C>A (p.Pro591Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001936275] |
Chr2:166284656 [GRCh38]
Chr2:167141166 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1640G>T (p.Arg547Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002016458] |
Chr2:166284787 [GRCh38]
Chr2:167141297 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5374G>A (p.Asp1792Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001996582] |
Chr2:166199265 [GRCh38]
Chr2:167055775 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1859G>A (p.Ser620Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001924011] |
Chr2:166284568 [GRCh38]
Chr2:167141078 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.94T>A (p.Ser32Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002035084] |
Chr2:166311663 [GRCh38]
Chr2:167168173 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.92A>T (p.Lys31Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003250366]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001975679] |
Chr2:166311665 [GRCh38]
Chr2:167168175 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.400T>A (p.Cys134Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002049764] |
Chr2:166306577 [GRCh38]
Chr2:167163087 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4354T>C (p.Phe1452Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001884620] |
Chr2:166226611 [GRCh38]
Chr2:167083121 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3096del (p.Lys1033fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001939247] |
Chr2:166272654 [GRCh38]
Chr2:167129164 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1497del (p.Lys499fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001866387] |
Chr2:166286441 [GRCh38]
Chr2:167142951 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2411T>G (p.Phe804Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001973233] |
Chr2:166278246 [GRCh38]
Chr2:167134756 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1007A>T (p.Asn336Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002009520] |
Chr2:166293331 [GRCh38]
Chr2:167149841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3259G>A (p.Val1087Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001921808] |
Chr2:166272491 [GRCh38]
Chr2:167129001 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4711C>A (p.His1571Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002016637] |
Chr2:166204018 [GRCh38]
Chr2:167060528 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2541A>C (p.Lys847Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002046029] |
Chr2:166277316 [GRCh38]
Chr2:167133826 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1345A>G (p.Ser449Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002028729] |
Chr2:166286593 [GRCh38]
Chr2:167143103 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4658T>C (p.Val1553Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002051256] |
Chr2:166204071 [GRCh38]
Chr2:167060581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4652A>G (p.Asn1551Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001959975] |
Chr2:166204077 [GRCh38]
Chr2:167060587 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2363C>T (p.Ala788Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001978046] |
Chr2:166278294 [GRCh38]
Chr2:167134804 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1516G>A (p.Glu506Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001917265] |
Chr2:166286422 [GRCh38]
Chr2:167142932 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4900C>T (p.Leu1634Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002011136] |
Chr2:166199739 [GRCh38]
Chr2:167056249 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2734G>A (p.Asp912Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001884132] |
Chr2:166277123 [GRCh38]
Chr2:167133633 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.20C>A (p.Pro7Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002036428] |
Chr2:166311737 [GRCh38]
Chr2:167168247 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3307G>A (p.Ala1103Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002552758]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001879653] |
Chr2:166272443 [GRCh38]
Chr2:167128953 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.802A>G (p.Met268Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001880985] |
Chr2:166303189 [GRCh38]
Chr2:167159699 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_165946660)_(167168266_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001940047] |
Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3641T>C (p.Ile1214Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002034078] |
Chr2:166238254 [GRCh38]
Chr2:167094764 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5004T>G (p.Tyr1668Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001939451] |
Chr2:166199635 [GRCh38]
Chr2:167056145 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2683T>C (p.Cys895Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001954049] |
Chr2:166277174 [GRCh38]
Chr2:167133684 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5906A>G (p.Tyr1969Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001881051] |
Chr2:166198733 [GRCh38]
Chr2:167055243 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3074G>T (p.Arg1025Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001916188] |
Chr2:166272676 [GRCh38]
Chr2:167129186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2048C>T (p.Pro683Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001900223] |
Chr2:166281735 [GRCh38]
Chr2:167138245 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002015958] |
Chr2:166228969 [GRCh38]
Chr2:167085479 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.3143A>C (p.Lys1048Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002014114] |
Chr2:166272607 [GRCh38]
Chr2:167129117 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_167083067)_(167089982_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001916534] |
Chr2:167083067..167089982 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5112_5123del (p.Ala1705_Leu1708del) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001992506] |
Chr2:166199516..166199527 [GRCh38]
Chr2:167056026..167056037 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166210682)_(167168266_?)del |
deletion |
Seizures, benign familial infantile, 3 [RCV001958879] |
Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4585A>G (p.Met1529Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001899712] |
Chr2:166204144 [GRCh38]
Chr2:167060654 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4702T>A (p.Ser1568Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002031384] |
Chr2:166204027 [GRCh38]
Chr2:167060537 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1105C>G (p.Gln369Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001996501] |
Chr2:166293233 [GRCh38]
Chr2:167149743 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2815G>T (p.Ala939Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001904705] |
Chr2:166277042 [GRCh38]
Chr2:167133552 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3206A>G (p.His1069Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001884053] |
Chr2:166272544 [GRCh38]
Chr2:167129054 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3065G>T (p.Arg1022Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001925103] |
Chr2:166272685 [GRCh38]
Chr2:167129195 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.318A>T (p.Leu106Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001959306] |
Chr2:166307015 [GRCh38]
Chr2:167163525 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5291G>C (p.Ser1764Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001939194] |
Chr2:166199348 [GRCh38]
Chr2:167055858 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002334967]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002035247] |
Chr2:166199631 [GRCh38]
Chr2:167056141 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001365536.1(SCN9A):c.597G>C (p.Ala199=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001980904] |
Chr2:166304329 [GRCh38]
Chr2:167160839 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1372C>T (p.Leu458Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001883926] |
Chr2:166286566 [GRCh38]
Chr2:167143076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.706G>A (p.Gly236Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001923585] |
Chr2:166303285 [GRCh38]
Chr2:167159795 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2518-1G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001959572] |
Chr2:166277340 [GRCh38]
Chr2:167133850 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.5542C>A (p.Arg1848Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001980948]|Primary erythromelalgia [RCV002307824] |
Chr2:166199097 [GRCh38]
Chr2:167055607 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5003A>G (p.Tyr1668Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001960030] |
Chr2:166199636 [GRCh38]
Chr2:167056146 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3172A>C (p.Lys1058Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001960146] |
Chr2:166272578 [GRCh38]
Chr2:167129088 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4790A>G (p.Asp1597Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001925045] |
Chr2:166199849 [GRCh38]
Chr2:167056359 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2893G>T (p.Ala965Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002009544] |
Chr2:166272857 [GRCh38]
Chr2:167129367 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1502C>A (p.Ser501Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001989985] |
Chr2:166286436 [GRCh38]
Chr2:167142946 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2693A>G (p.Lys898Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002046935] |
Chr2:166277164 [GRCh38]
Chr2:167133674 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4373A>G (p.Asp1458Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001920238] |
Chr2:166226592 [GRCh38]
Chr2:167083102 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1465T>C (p.Ser489Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001931437] |
Chr2:166286473 [GRCh38]
Chr2:167142983 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3587G>A (p.Ser1196Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002010604] |
Chr2:166242542 [GRCh38]
Chr2:167099052 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5873A>G (p.Tyr1958Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001957711] |
Chr2:166198766 [GRCh38]
Chr2:167055276 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2995A>G (p.Ile999Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001989158] |
Chr2:166272755 [GRCh38]
Chr2:167129265 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5443A>C (p.Ile1815Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002048076] |
Chr2:166199196 [GRCh38]
Chr2:167055706 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3514T>C (p.Ser1172Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002458979]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002029102] |
Chr2:166242615 [GRCh38]
Chr2:167099125 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2246C>T (p.Ala749Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001904291] |
Chr2:166280454 [GRCh38]
Chr2:167136964 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2518-12A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001994885] |
Chr2:166277351 [GRCh38]
Chr2:167133861 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5918G>C (p.Arg1973Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002026498] |
Chr2:166198721 [GRCh38]
Chr2:167055231 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4727T>G (p.Val1576Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001952400] |
Chr2:166204002 [GRCh38]
Chr2:167060512 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.536G>T (p.Gly179Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001865150] |
Chr2:166305852 [GRCh38]
Chr2:167162362 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166605291)_(167163604_?)dup |
duplication |
Jeune thoracic dystrophy [RCV001992945] |
Chr2:166605291..167163604 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2525T>G (p.Val842Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001901987] |
Chr2:166277332 [GRCh38]
Chr2:167133842 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5168G>T (p.Gly1723Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001933493] |
Chr2:166199471 [GRCh38]
Chr2:167055981 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.363G>T (p.Lys121Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001937687] |
Chr2:166306970 [GRCh38]
Chr2:167163480 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4598T>C (p.Met1533Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001974398] |
Chr2:166204131 [GRCh38]
Chr2:167060641 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2354G>T (p.Gly785Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002014717] |
Chr2:166278303 [GRCh38]
Chr2:167134813 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3080C>T (p.Ala1027Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001975386] |
Chr2:166272670 [GRCh38]
Chr2:167129180 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3541A>G (p.Ile1181Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001901392] |
Chr2:166242588 [GRCh38]
Chr2:167099098 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3032T>C (p.Leu1011Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001994110] |
Chr2:166272718 [GRCh38]
Chr2:167129228 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5469C>T (p.Leu1823=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002088218] |
Chr2:166199170 [GRCh38]
Chr2:167055680 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4875A>G (p.Lys1625=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002165036] |
Chr2:166199764 [GRCh38]
Chr2:167056274 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4206+18T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002185816] |
Chr2:166228673 [GRCh38]
Chr2:167085183 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3628-7T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002129944] |
Chr2:166238274 [GRCh38]
Chr2:167094784 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2781G>A (p.Glu927=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002165093] |
Chr2:166277076 [GRCh38]
Chr2:167133586 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3576T>C (p.Ser1192=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002205752] |
Chr2:166242553 [GRCh38]
Chr2:167099063 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4710A>G (p.Arg1570=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002206067] |
Chr2:166204019 [GRCh38]
Chr2:167060529 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4836C>T (p.Ile1612=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002189392] |
Chr2:166199803 [GRCh38]
Chr2:167056313 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3597C>T (p.Val1199=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002188094] |
Chr2:166242532 [GRCh38]
Chr2:167099042 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3702T>C (p.Thr1234=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002111001] |
Chr2:166238193 [GRCh38]
Chr2:167094703 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4008C>T (p.Ser1336=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002190336] |
Chr2:166228889 [GRCh38]
Chr2:167085399 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.655T>C (p.Leu219=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002148015] |
Chr2:166304271 [GRCh38]
Chr2:167160781 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5820C>T (p.Asn1940=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002188300] |
Chr2:166198819 [GRCh38]
Chr2:167055329 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4774+16_4774+17delinsAC |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002127978] |
Chr2:166203938..166203939 [GRCh38]
Chr2:167060448..167060449 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2343+13T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002210132] |
Chr2:166280344 [GRCh38]
Chr2:167136854 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.259-12T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002146994] |
Chr2:166307086 [GRCh38]
Chr2:167163596 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1989A>G (p.Gln663=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002074638] |
Chr2:166281794 [GRCh38]
Chr2:167138304 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.688+19G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002168362] |
Chr2:166304219 [GRCh38]
Chr2:167160729 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.189T>C (p.Tyr63=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002189320] |
Chr2:166311568 [GRCh38]
Chr2:167168078 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4884G>A (p.Lys1628=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002109153] |
Chr2:166199755 [GRCh38]
Chr2:167056265 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-6A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002165996] |
Chr2:166272881 [GRCh38]
Chr2:167129391 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3222T>C (p.Ser1074=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002089393] |
Chr2:166272528 [GRCh38]
Chr2:167129038 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4775-10C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002072758] |
Chr2:166199874 [GRCh38]
Chr2:167056384 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.873T>C (p.Asn291=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002210119] |
Chr2:166303118 [GRCh38]
Chr2:167159628 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.902-16A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002110971] |
Chr2:166294678 [GRCh38]
Chr2:167151188 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.965+14G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002206630] |
Chr2:166294585 [GRCh38]
Chr2:167151095 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5766A>G (p.Arg1922=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002074867] |
Chr2:166198873 [GRCh38]
Chr2:167055383 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.90A>G (p.Arg30=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002087520] |
Chr2:166311667 [GRCh38]
Chr2:167168177 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4035C>A (p.Gly1345=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002108301] |
Chr2:166228862 [GRCh38]
Chr2:167085372 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4104C>T (p.Ser1368=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002128155] |
Chr2:166228793 [GRCh38]
Chr2:167085303 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1203T>C (p.Val401=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002197413] |
Chr2:166288548 [GRCh38]
Chr2:167145058 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4261-11A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002173311] |
Chr2:166226715 [GRCh38]
Chr2:167083225 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2874+20T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002132554] |
Chr2:166276963 [GRCh38]
Chr2:167133473 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5709C>T (p.Tyr1903=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002196658] |
Chr2:166198930 [GRCh38]
Chr2:167055440 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4503+10T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002191493] |
Chr2:166204350 [GRCh38]
Chr2:167060860 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4896G>T (p.Thr1632=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002130683] |
Chr2:166199743 [GRCh38]
Chr2:167056253 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3678G>A (p.Leu1226=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002113580] |
Chr2:166238217 [GRCh38]
Chr2:167094727 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4449T>C (p.Asn1483=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002189911] |
Chr2:166204414 [GRCh38]
Chr2:167060924 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4206+12A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002208109] |
Chr2:166228679 [GRCh38]
Chr2:167085189 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.672T>G (p.Thr224=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002171021] |
Chr2:166304254 [GRCh38]
Chr2:167160764 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2016C>T (p.Ser672=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002173131] |
Chr2:166281767 [GRCh38]
Chr2:167138277 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2202A>G (p.Lys734=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002214052] |
Chr2:166280498 [GRCh38]
Chr2:167137008 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4775-11T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002095645] |
Chr2:166199875 [GRCh38]
Chr2:167056385 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5322G>C (p.Leu1774=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002078504] |
Chr2:166199317 [GRCh38]
Chr2:167055827 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4792T>C (p.Leu1598=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002078766] |
Chr2:166199847 [GRCh38]
Chr2:167056357 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2105-14C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002076781] |
Chr2:166280609 [GRCh38]
Chr2:167137119 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.945T>C (p.Cys315=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002193462] |
Chr2:166294619 [GRCh38]
Chr2:167151129 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1512A>G (p.Glu504=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002113847] |
Chr2:166286426 [GRCh38]
Chr2:167142936 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5496T>C (p.Ser1832=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002097173] |
Chr2:166199143 [GRCh38]
Chr2:167055653 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.523G>C (p.Gly175Arg) |
single nucleotide variant |
not provided [RCV002224252] |
Chr2:166305865 [GRCh38]
Chr2:167162375 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1603-13A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002115351] |
Chr2:166284837 [GRCh38]
Chr2:167141347 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1107+20T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002116939] |
Chr2:166293211 [GRCh38]
Chr2:167149721 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2490A>C (p.Gly830=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002112860] |
Chr2:166278167 [GRCh38]
Chr2:167134677 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4774+19C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002133358] |
Chr2:166203936 [GRCh38]
Chr2:167060446 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.258+14G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002117418] |
Chr2:166311485 [GRCh38]
Chr2:167167995 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.258+12T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002195857] |
Chr2:166311487 [GRCh38]
Chr2:167167997 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2343+18T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002078748] |
Chr2:166280339 [GRCh38]
Chr2:167136849 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1167C>T (p.Gly389=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002093547] |
Chr2:166288584 [GRCh38]
Chr2:167145094 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3351+16A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002133100] |
Chr2:166272383 [GRCh38]
Chr2:167128893 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4504-8C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002193022] |
Chr2:166204233 [GRCh38]
Chr2:167060743 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2877C>A (p.Val959=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002096117] |
Chr2:166272873 [GRCh38]
Chr2:167129383 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-13C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002152909] |
Chr2:166272888 [GRCh38]
Chr2:167129398 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4206+11C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002124298] |
Chr2:166228680 [GRCh38]
Chr2:167085190 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5727C>A (p.Val1909=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002114313] |
Chr2:166198912 [GRCh38]
Chr2:167055422 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2325A>G (p.Val775=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002112958] |
Chr2:166280375 [GRCh38]
Chr2:167136885 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2670G>A (p.Lys890=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002116656] |
Chr2:166277187 [GRCh38]
Chr2:167133697 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2343+17G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002132143] |
Chr2:166280340 [GRCh38]
Chr2:167136850 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.2859C>T (p.Val953=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002114818] |
Chr2:166276998 [GRCh38]
Chr2:167133508 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1011T>C (p.Pro337=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002172066] |
Chr2:166293327 [GRCh38]
Chr2:167149837 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.879A>G (p.Leu293=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002174584] |
Chr2:166303112 [GRCh38]
Chr2:167159622 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3472+15del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002209045] |
Chr2:166251750 [GRCh38]
Chr2:167108260 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2481T>C (p.Asp827=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002149913] |
Chr2:166278176 [GRCh38]
Chr2:167134686 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4399-5T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002159356] |
Chr2:166204469 [GRCh38]
Chr2:167060979 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2344-15A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002177539] |
Chr2:166278328 [GRCh38]
Chr2:167134838 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-12_1975-11insA |
insertion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002216978] |
Chr2:166281819..166281820 [GRCh38]
Chr2:167138329..167138330 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-12T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002177798] |
Chr2:166281820 [GRCh38]
Chr2:167138330 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-17A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002120359] |
Chr2:166281825 [GRCh38]
Chr2:167138335 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.126T>C (p.Asp42=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002101010] |
Chr2:166311631 [GRCh38]
Chr2:167168141 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3627+8A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002159133] |
Chr2:166242494 [GRCh38]
Chr2:167099004 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1956G>C (p.Lys652Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002220085] |
Chr2:166284471 [GRCh38]
Chr2:167140981 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4401T>C (p.Leu1467=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002140839] |
Chr2:166204462 [GRCh38]
Chr2:167060972 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3452dup (p.Glu1152fs) |
duplication |
Primary erythromelalgia [RCV002250340] |
Chr2:166251784..166251785 [GRCh38]
Chr2:167108294..167108295 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5110C>T (p.Leu1704=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002157753] |
Chr2:166199529 [GRCh38]
Chr2:167056039 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1788G>A (p.Glu596=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002101872] |
Chr2:166284639 [GRCh38]
Chr2:167141149 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-20C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002135480] |
Chr2:166272895 [GRCh38]
Chr2:167129405 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1587G>A (p.Leu529=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002163349] |
Chr2:166286351 [GRCh38]
Chr2:167142861 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1603-14T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002177677] |
Chr2:166284838 [GRCh38]
Chr2:167141348 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.223C>T (p.Leu75=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002138001] |
Chr2:166311534 [GRCh38]
Chr2:167168044 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4512C>T (p.Ile1504=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002219314] |
Chr2:166204217 [GRCh38]
Chr2:167060727 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.259-17T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002120460] |
Chr2:166307091 [GRCh38]
Chr2:167163601 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1314+15T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002084502] |
Chr2:166288422 [GRCh38]
Chr2:167144932 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3352-16G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002103090] |
Chr2:166251901 [GRCh38]
Chr2:167108411 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1678A>C (p.Arg560=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002142240] |
Chr2:166284749 [GRCh38]
Chr2:167141259 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1332G>A (p.Ala444=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002164309] |
Chr2:166286606 [GRCh38]
Chr2:167143116 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.942T>G (p.Leu314=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002082695] |
Chr2:166294622 [GRCh38]
Chr2:167151132 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.377+10T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002099391] |
Chr2:166306946 [GRCh38]
Chr2:167163456 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3894A>G (p.Leu1298=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002138639] |
Chr2:166233370 [GRCh38]
Chr2:167089880 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2097T>C (p.Thr699=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002143840] |
Chr2:166281686 [GRCh38]
Chr2:167138196 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2086T>C (p.Leu696=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002220243] |
Chr2:166281697 [GRCh38]
Chr2:167138207 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4207-13G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002162950] |
Chr2:166227736 [GRCh38]
Chr2:167084246 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.468-10T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002202969] |
Chr2:166305930 [GRCh38]
Chr2:167162440 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.468-20C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002103321] |
Chr2:166305940 [GRCh38]
Chr2:167162450 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2105-8dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002117915] |
Chr2:166280602..166280603 [GRCh38]
Chr2:167137112..167137113 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.4504-19T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002159471] |
Chr2:166204244 [GRCh38]
Chr2:167060754 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1068G>A (p.Arg356=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002179232] |
Chr2:166293270 [GRCh38]
Chr2:167149780 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2874+11A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002203536] |
Chr2:166276972 [GRCh38]
Chr2:167133482 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3492A>C (p.Ser1164=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002142887] |
Chr2:166242637 [GRCh38]
Chr2:167099147 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.689-20C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002120217] |
Chr2:166303322 [GRCh38]
Chr2:167159832 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4774+12del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002120219] |
Chr2:166203943 [GRCh38]
Chr2:167060453 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3234A>C (p.Ser1078=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002217495] |
Chr2:166272516 [GRCh38]
Chr2:167129026 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5278C>T (p.Leu1760=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002217533] |
Chr2:166199361 [GRCh38]
Chr2:167055871 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1083T>C (p.Asp361=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002082399] |
Chr2:166293255 [GRCh38]
Chr2:167149765 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5841T>C (p.Asp1947=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002154998] |
Chr2:166198798 [GRCh38]
Chr2:167055308 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4434G>A (p.Gln1478=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002082443] |
Chr2:166204429 [GRCh38]
Chr2:167060939 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.377+20T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002219705] |
Chr2:166306936 [GRCh38]
Chr2:167163446 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4503+19C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002181573] |
Chr2:166204341 [GRCh38]
Chr2:167060851 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5745A>C (p.Ile1915=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002202553] |
Chr2:166198894 [GRCh38]
Chr2:167055404 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2028A>G (p.Ser676=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002099561] |
Chr2:166281755 [GRCh38]
Chr2:167138265 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5109G>A (p.Leu1703=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002155703] |
Chr2:166199530 [GRCh38]
Chr2:167056040 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1614C>T (p.Ser538=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002178963] |
Chr2:166284813 [GRCh38]
Chr2:167141323 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.405T>C (p.Thr135=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002158120] |
Chr2:166306572 [GRCh38]
Chr2:167163082 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1716T>C (p.Asp572=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002139566] |
Chr2:166284711 [GRCh38]
Chr2:167141221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4713C>T (p.His1571=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002158059] |
Chr2:166204016 [GRCh38]
Chr2:167060526 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2619G>A (p.Leu873=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002162421] |
Chr2:166277238 [GRCh38]
Chr2:167133748 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1108-10T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002158502] |
Chr2:166288653 [GRCh38]
Chr2:167145163 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3627+17C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002124203] |
Chr2:166242485 [GRCh38]
Chr2:167098995 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1315-16G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002099077] |
Chr2:166286639 [GRCh38]
Chr2:167143149 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3924+17C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002155153] |
Chr2:166233323 [GRCh38]
Chr2:167089833 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1848G>A (p.Gly616=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002138471] |
Chr2:166284579 [GRCh38]
Chr2:167141089 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.597-19T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002120967] |
Chr2:166304348 [GRCh38]
Chr2:167160858 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1488T>C (p.Asp496=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002199022] |
Chr2:166286450 [GRCh38]
Chr2:167142960 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4836C>A (p.Ile1612=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002184507] |
Chr2:166199803 [GRCh38]
Chr2:167056313 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-16T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002103248] |
Chr2:166281824 [GRCh38]
Chr2:167138334 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.723A>T (p.Ser241=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002121053] |
Chr2:166303268 [GRCh38]
Chr2:167159778 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_167128889)_(167129405_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113161] |
Chr2:167128889..167129405 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_167055182)_(167056394_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113162] |
Chr2:167055182..167056394 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_167083057)_(167099186_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113163] |
Chr2:167083057..167099186 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_167085181)_(167168266_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113164] |
Chr2:167085181..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_167055182)_(167143153_?)dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113165] |
Chr2:167055182..167143153 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_167160728)_(167168266_?)dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113166] |
Chr2:167160728..167168266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_167119087)_(167129240_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113167] |
Chr2:167119087..167129240 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NC_000002.11:g.(?_165946660)_(167108415_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113168] |
Chr2:165946660..167108415 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166847749)_(167060980_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113169] |
Chr2:166847749..167060980 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.467+16T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003116976] |
Chr2:166306494 [GRCh38]
Chr2:167163004 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.443_444delinsAG (p.Pro148Gln) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003119351] |
Chr2:166306533..166306534 [GRCh38]
Chr2:167163043..167163044 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2656C>G (p.Gln886Glu) |
single nucleotide variant |
Primary erythromelalgia [RCV003148413] |
Chr2:166277201 [GRCh38]
Chr2:167133711 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 |
copy number loss |
2q24 microdeletion syndrome [RCV002271993] |
Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1 |
pathogenic |
| NM_001365536.1(SCN9A):c.5738C>G (p.Ser1913Ter) |
single nucleotide variant |
not provided [RCV002285943] |
Chr2:166198901 [GRCh38]
Chr2:167055411 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2923A>T (p.Asn975Tyr) |
single nucleotide variant |
not provided [RCV002265070] |
Chr2:166272827 [GRCh38]
Chr2:167129337 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4597A>T (p.Met1533Leu) |
single nucleotide variant |
not provided [RCV002263231] |
Chr2:166204132 [GRCh38]
Chr2:167060642 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4932_4935del (p.Phe1645fs) |
deletion |
not specified [RCV002281833] |
Chr2:166199704..166199707 [GRCh38]
Chr2:167056214..167056217 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1 |
copy number loss |
West syndrome [RCV002286320] |
Chr2:165383106..167432622 [GRCh38]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.113A>G (p.Glu38Gly) |
single nucleotide variant |
not provided [RCV002261696] |
Chr2:166311644 [GRCh38]
Chr2:167168154 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.59T>G (p.Leu20Arg) |
single nucleotide variant |
not provided [RCV002261697] |
Chr2:166311698 [GRCh38]
Chr2:167168208 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596+1G>A |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV002279900] |
Chr2:166305791 [GRCh38]
Chr2:167162301 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.660A>C (p.Arg220Ser) |
single nucleotide variant |
not provided [RCV002291854] |
Chr2:166304266 [GRCh38]
Chr2:167160776 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.811C>A (p.Leu271Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002421276]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003103475] |
Chr2:166303180 [GRCh38]
Chr2:167159690 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5473G>T (p.Ala1825Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002349604]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003096740] |
Chr2:166199166 [GRCh38]
Chr2:167055676 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2081G>C (p.Ser694Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002420033] |
Chr2:166281702 [GRCh38]
Chr2:167138212 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3802-6_3802-5del |
deletion |
Inborn genetic diseases [RCV002351061]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003775727] |
Chr2:166233467..166233468 [GRCh38]
Chr2:167089977..167089978 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.377+1A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002351079] |
Chr2:166306955 [GRCh38]
Chr2:167163465 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1466C>T (p.Ser489Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002297808] |
Chr2:166286472 [GRCh38]
Chr2:167142982 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5171G>C (p.Ser1724Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002297410] |
Chr2:166199468 [GRCh38]
Chr2:167055978 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4076T>C (p.Phe1359Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002297464] |
Chr2:166228821 [GRCh38]
Chr2:167085331 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1795A>C (p.Ser599Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002297586] |
Chr2:166284632 [GRCh38]
Chr2:167141142 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3438G>A (p.Met1146Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002452127] |
Chr2:166251799 [GRCh38]
Chr2:167108309 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3590T>C (p.Phe1197Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002454906] |
Chr2:166242539 [GRCh38]
Chr2:167099049 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5744T>C (p.Ile1915Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003263368] |
Chr2:166198895 [GRCh38]
Chr2:167055405 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4982T>C (p.Phe1661Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002342708] |
Chr2:166199657 [GRCh38]
Chr2:167056167 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4399-10G>C |
single nucleotide variant |
not provided [RCV002474271] |
Chr2:166204474 [GRCh38]
Chr2:167060984 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5852C>A (p.Ser1951Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002303852] |
Chr2:166198787 [GRCh38]
Chr2:167055297 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1124_1126delinsCC (p.Gly375fs) |
indel |
Inborn genetic diseases [RCV002442337] |
Chr2:166288625..166288627 [GRCh38]
Chr2:167145135..167145137 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3556T>A (p.Tyr1186Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002459345]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003099540] |
Chr2:166242573 [GRCh38]
Chr2:167099083 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1052T>C (p.Phe351Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002304744] |
Chr2:166293286 [GRCh38]
Chr2:167149796 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4005C>G (p.Phe1335Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002304860] |
Chr2:166228892 [GRCh38]
Chr2:167085402 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3127C>T (p.Leu1043Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002325834]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003099188] |
Chr2:166272623 [GRCh38]
Chr2:167129133 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.619C>A (p.Leu207Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002300091] |
Chr2:166304307 [GRCh38]
Chr2:167160817 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5258A>G (p.Asn1753Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002340818] |
Chr2:166199381 [GRCh38]
Chr2:167055891 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3997C>G (p.Leu1333Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002298203] |
Chr2:166228900 [GRCh38]
Chr2:167085410 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.443C>T (p.Pro148Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002328264] |
Chr2:166306534 [GRCh38]
Chr2:167163044 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2231C>G (p.Pro744Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002425620] |
Chr2:166280469 [GRCh38]
Chr2:167136979 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4714T>G (p.Tyr1572Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002335210] |
Chr2:166204015 [GRCh38]
Chr2:167060525 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.308C>T (p.Thr103Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002325779]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003099183] |
Chr2:166307025 [GRCh38]
Chr2:167163535 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3793A>G (p.Ile1265Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002296765] |
Chr2:166238102 [GRCh38]
Chr2:167094612 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5111T>A (p.Leu1704Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002300243] |
Chr2:166199528 [GRCh38]
Chr2:167056038 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1744G>C (p.Glu582Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002401464] |
Chr2:166284683 [GRCh38]
Chr2:167141193 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3411A>C (p.Glu1137Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002299315] |
Chr2:166251826 [GRCh38]
Chr2:167108336 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3592A>G (p.Ile1198Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002339760] |
Chr2:166242537 [GRCh38]
Chr2:167099047 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.226G>A (p.Glu76Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002443871] |
Chr2:166311531 [GRCh38]
Chr2:167168041 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2659C>T (p.Leu887Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002426437]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003102043] |
Chr2:166277198 [GRCh38]
Chr2:167133708 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3319A>G (p.Ser1107Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002445800] |
Chr2:166272431 [GRCh38]
Chr2:167128941 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4628T>A (p.Met1543Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002299600] |
Chr2:166204101 [GRCh38]
Chr2:167060611 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4285T>C (p.Tyr1429His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002301606] |
Chr2:166226680 [GRCh38]
Chr2:167083190 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5894A>T (p.Asp1965Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002353415] |
Chr2:166198745 [GRCh38]
Chr2:167055255 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1804A>C (p.Ile602Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002303307] |
Chr2:166284623 [GRCh38]
Chr2:167141133 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3460T>C (p.Cys1154Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002456991] |
Chr2:166251777 [GRCh38]
Chr2:167108287 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3266T>C (p.Val1089Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002295419] |
Chr2:166272484 [GRCh38]
Chr2:167128994 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1490C>T (p.Ala497Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002389688] |
Chr2:166286448 [GRCh38]
Chr2:167142958 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1367T>C (p.Met456Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002383614] |
Chr2:166286571 [GRCh38]
Chr2:167143081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.133G>A (p.Glu45Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002301825] |
Chr2:166311624 [GRCh38]
Chr2:167168134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.267A>G (p.Ile89Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002300278] |
Chr2:166307066 [GRCh38]
Chr2:167163576 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2344G>A (p.Val782Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002446454] |
Chr2:166278313 [GRCh38]
Chr2:167134823 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4870G>A (p.Val1624Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002338104] |
Chr2:166199769 [GRCh38]
Chr2:167056279 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1339T>A (p.Tyr447Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002387658] |
Chr2:166286599 [GRCh38]
Chr2:167143109 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2477C>T (p.Ala826Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002303145] |
Chr2:166278180 [GRCh38]
Chr2:167134690 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.64C>T (p.Leu22Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002298168] |
Chr2:166311693 [GRCh38]
Chr2:167168203 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3989T>C (p.Ile1330Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002299486] |
Chr2:166228908 [GRCh38]
Chr2:167085418 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1469G>C (p.Ser490Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002861287] |
Chr2:166286469 [GRCh38]
Chr2:167142979 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2139G>A (p.Trp713Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002880451] |
Chr2:166280561 [GRCh38]
Chr2:167137071 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2518-17T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002862316] |
Chr2:166277356 [GRCh38]
Chr2:167133866 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4302T>C (p.Tyr1434=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002751517] |
Chr2:166226663 [GRCh38]
Chr2:167083173 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2869C>T (p.Leu957=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003015085] |
Chr2:166276988 [GRCh38]
Chr2:167133498 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3563T>C (p.Ile1188Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002726929] |
Chr2:166242566 [GRCh38]
Chr2:167099076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4056C>T (p.Asn1352=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002839250] |
Chr2:166228841 [GRCh38]
Chr2:167085351 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2217dup (p.Ile740fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002858610] |
Chr2:166280482..166280483 [GRCh38]
Chr2:167136992..167136993 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4572T>A (p.Leu1524=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002615619] |
Chr2:166204157 [GRCh38]
Chr2:167060667 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1153G>T (p.Val385Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002816422] |
Chr2:166288598 [GRCh38]
Chr2:167145108 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4421T>A (p.Met1474Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002991609] |
Chr2:166204442 [GRCh38]
Chr2:167060952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2631C>T (p.Val877=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002971335] |
Chr2:166277226 [GRCh38]
Chr2:167133736 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1975-14G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003075023] |
Chr2:166281822 [GRCh38]
Chr2:167138332 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4263A>G (p.Val1421=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002816303] |
Chr2:166226702 [GRCh38]
Chr2:167083212 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5324G>T (p.Ser1775Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002771453] |
Chr2:166199315 [GRCh38]
Chr2:167055825 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3518G>C (p.Gly1173Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002839691] |
Chr2:166242611 [GRCh38]
Chr2:167099121 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1559G>A (p.Gly520Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002967953] |
Chr2:166286379 [GRCh38]
Chr2:167142889 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3145G>C (p.Gly1049Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002967547] |
Chr2:166272605 [GRCh38]
Chr2:167129115 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.252C>T (p.Asp84=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002881159] |
Chr2:166311505 [GRCh38]
Chr2:167168015 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4979T>A (p.Ile1660Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002730835] |
Chr2:166199660 [GRCh38]
Chr2:167056170 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3413G>A (p.Gly1138Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002843501] |
Chr2:166251824 [GRCh38]
Chr2:167108334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.258+14G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002996253] |
Chr2:166311485 [GRCh38]
Chr2:167167995 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1537A>G (p.Ser513Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002755801] |
Chr2:166286401 [GRCh38]
Chr2:167142911 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.265A>T (p.Ile89Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002908768] |
Chr2:166307068 [GRCh38]
Chr2:167163578 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1409C>G (p.Ser470Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002975551] |
Chr2:166286529 [GRCh38]
Chr2:167143039 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1237A>G (p.Ile413Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002839191] |
Chr2:166288514 [GRCh38]
Chr2:167145024 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4168G>A (p.Asp1390Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002947237] |
Chr2:166228729 [GRCh38]
Chr2:167085239 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3777T>C (p.Cys1259=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002686231] |
Chr2:166238118 [GRCh38]
Chr2:167094628 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4156A>G (p.Lys1386Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002974845] |
Chr2:166228741 [GRCh38]
Chr2:167085251 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1635del (p.Ala546fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003034273] |
Chr2:166284792 [GRCh38]
Chr2:167141302 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4506C>A (p.Asn1502Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002815768] |
Chr2:166204223 [GRCh38]
Chr2:167060733 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3212T>C (p.Met1071Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002971413] |
Chr2:166272538 [GRCh38]
Chr2:167129048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4183G>C (p.Gly1395Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002755594] |
Chr2:166228714 [GRCh38]
Chr2:167085224 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.467+19A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003077080] |
Chr2:166306491 [GRCh38]
Chr2:167163001 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.480T>C (p.Thr160=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002975597] |
Chr2:166305908 [GRCh38]
Chr2:167162418 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.966-18G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002948286] |
Chr2:166293390 [GRCh38]
Chr2:167149900 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4775-7C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002756535] |
Chr2:166199871 [GRCh38]
Chr2:167056381 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5614C>G (p.Pro1872Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002996125] |
Chr2:166199025 [GRCh38]
Chr2:167055535 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2518-4T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003016725] |
Chr2:166277343 [GRCh38]
Chr2:167133853 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4500A>G (p.Pro1500=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002775476] |
Chr2:166204363 [GRCh38]
Chr2:167060873 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3427G>C (p.Ala1143Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003075271] |
Chr2:166251810 [GRCh38]
Chr2:167108320 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.3352-11T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002750505] |
Chr2:166251896 [GRCh38]
Chr2:167108406 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.381dup (p.Phe128fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002947627] |
Chr2:166306595..166306596 [GRCh38]
Chr2:167163105..167163106 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.3464T>G (p.Phe1155Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003016600] |
Chr2:166251773 [GRCh38]
Chr2:167108283 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.768G>C (p.Leu256=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002815265] |
Chr2:166303223 [GRCh38]
Chr2:167159733 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1408T>C (p.Ser470Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002993649] |
Chr2:166286530 [GRCh38]
Chr2:167143040 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5474C>T (p.Ala1825Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002994144] |
Chr2:166199165 [GRCh38]
Chr2:167055675 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3578G>T (p.Trp1193Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002837475] |
Chr2:166242551 [GRCh38]
Chr2:167099061 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1260A>C (p.Glu420Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002615833] |
Chr2:166288491 [GRCh38]
Chr2:167145001 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.258+2T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002863038] |
Chr2:166311497 [GRCh38]
Chr2:167168007 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.2105-8T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002858433] |
Chr2:166280603 [GRCh38]
Chr2:167137113 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4718A>G (p.Tyr1573Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002995645] |
Chr2:166204011 [GRCh38]
Chr2:167060521 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.484A>C (p.Ile162Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002615896] |
Chr2:166305904 [GRCh38]
Chr2:167162414 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5422G>T (p.Ala1808Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002614023] |
Chr2:166199217 [GRCh38]
Chr2:167055727 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1179A>G (p.Leu393=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002881837] |
Chr2:166288572 [GRCh38]
Chr2:167145082 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.733C>A (p.Leu245Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002731436] |
Chr2:166303258 [GRCh38]
Chr2:167159768 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3815C>T (p.Thr1272Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002773463] |
Chr2:166233449 [GRCh38]
Chr2:167089959 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.439A>C (p.Asn147His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003013481] |
Chr2:166306538 [GRCh38]
Chr2:167163048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.704T>C (p.Val235Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002838916] |
Chr2:166303287 [GRCh38]
Chr2:167159797 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2341T>C (p.Leu781=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003033876] |
Chr2:166280359 [GRCh38]
Chr2:167136869 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2559C>T (p.Asn853=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002614910] |
Chr2:166277298 [GRCh38]
Chr2:167133808 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1647C>T (p.Ser549=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002837855] |
Chr2:166284780 [GRCh38]
Chr2:167141290 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5045A>C (p.Glu1682Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002615572] |
Chr2:166199594 [GRCh38]
Chr2:167056104 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.163G>C (p.Ala55Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003032668] |
Chr2:166311594 [GRCh38]
Chr2:167168104 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1750A>G (p.Arg584Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002615725] |
Chr2:166284677 [GRCh38]
Chr2:167141187 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5502C>A (p.Asp1834Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002727137] |
Chr2:166199137 [GRCh38]
Chr2:167055647 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.901+15G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002995115] |
Chr2:166303075 [GRCh38]
Chr2:167159585 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2518-8G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002819833] |
Chr2:166277347 [GRCh38]
Chr2:167133857 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.211G>A (p.Val71Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002613670] |
Chr2:166311546 [GRCh38]
Chr2:167168056 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2874+11_2874+13del |
deletion |
Primary erythromelalgia [RCV002496215]|SCN9A-related condition [RCV003973412] |
Chr2:166276970..166276972 [GRCh38]
Chr2:167133480..167133482 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001365536.1(SCN9A):c.1312G>A (p.Glu438Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003054944] |
Chr2:166288439 [GRCh38]
Chr2:167144949 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2064_2065del (p.Arg688fs) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002953640] |
Chr2:166281718..166281719 [GRCh38]
Chr2:167138228..167138229 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2418A>C (p.Val806=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003021857] |
Chr2:166278239 [GRCh38]
Chr2:167134749 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1314G>T (p.Glu438Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003002909] |
Chr2:166288437 [GRCh38]
Chr2:167144947 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5151A>C (p.Pro1717=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002870939] |
Chr2:166199488 [GRCh38]
Chr2:167055998 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3102G>A (p.Lys1034=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002871427] |
Chr2:166272648 [GRCh38]
Chr2:167129158 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.955A>C (p.Thr319Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003081688] |
Chr2:166294609 [GRCh38]
Chr2:167151119 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1701G>A (p.Glu567=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003055726] |
Chr2:166284726 [GRCh38]
Chr2:167141236 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1993C>A (p.His665Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002621234] |
Chr2:166281790 [GRCh38]
Chr2:167138300 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1401A>T (p.Lys467Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003039526] |
Chr2:166286537 [GRCh38]
Chr2:167143047 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3661A>G (p.Thr1221Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003053252] |
Chr2:166238234 [GRCh38]
Chr2:167094744 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503+10del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002952422] |
Chr2:166204350 [GRCh38]
Chr2:167060860 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4528G>A (p.Asp1510Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003079188] |
Chr2:166204201 [GRCh38]
Chr2:167060711 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3802-23_3802-20del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003077387] |
Chr2:166233482..166233485 [GRCh38]
Chr2:167089992..167089995 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1896T>C (p.Asp632=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003077459] |
Chr2:166284531 [GRCh38]
Chr2:167141041 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2111A>G (p.Glu704Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002758164]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003777741] |
Chr2:166280589 [GRCh38]
Chr2:167137099 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3334A>G (p.Ser1112Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003358029]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV002923498] |
Chr2:166272416 [GRCh38]
Chr2:167128926 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.652G>A (p.Val218Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003077768] |
Chr2:166304274 [GRCh38]
Chr2:167160784 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1882G>T (p.Val628Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002886264] |
Chr2:166284545 [GRCh38]
Chr2:167141055 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4499C>A (p.Pro1500Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002636544] |
Chr2:166204364 [GRCh38]
Chr2:167060874 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3673A>T (p.Ile1225Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003020312] |
Chr2:166238222 [GRCh38]
Chr2:167094732 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3694A>C (p.Ile1232Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002796712] |
Chr2:166238201 [GRCh38]
Chr2:167094711 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4809T>C (p.Phe1603=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002658507] |
Chr2:166199830 [GRCh38]
Chr2:167056340 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5747A>G (p.Tyr1916Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002910232] |
Chr2:166198892 [GRCh38]
Chr2:167055402 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5646C>T (p.Thr1882=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003017825] |
Chr2:166198993 [GRCh38]
Chr2:167055503 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4233T>C (p.Ile1411=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002637490] |
Chr2:166227697 [GRCh38]
Chr2:167084207 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4715A>G (p.Tyr1572Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002620450] |
Chr2:166204014 [GRCh38]
Chr2:167060524 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2695A>T (p.Ile899Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002780243] |
Chr2:166277162 [GRCh38]
Chr2:167133672 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.918G>T (p.Leu306Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002591282] |
Chr2:166294646 [GRCh38]
Chr2:167151156 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4612G>A (p.Gly1538Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002705988] |
Chr2:166204117 [GRCh38]
Chr2:167060627 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5005G>A (p.Val1669Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002923474] |
Chr2:166199634 [GRCh38]
Chr2:167056144 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3627+10C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002591432] |
Chr2:166242492 [GRCh38]
Chr2:167099002 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2847G>A (p.Met949Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003020965] |
Chr2:166277010 [GRCh38]
Chr2:167133520 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3230A>G (p.Gln1077Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002592205] |
Chr2:166272520 [GRCh38]
Chr2:167129030 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3084A>G (p.Glu1028=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003037459] |
Chr2:166272666 [GRCh38]
Chr2:167129176 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.639T>A (p.Leu213=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003020999] |
Chr2:166304287 [GRCh38]
Chr2:167160797 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2106A>C (p.Glu702Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002868532] |
Chr2:166280594 [GRCh38]
Chr2:167137104 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1780C>T (p.Pro594Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002884585] |
Chr2:166284647 [GRCh38]
Chr2:167141157 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.261T>A (p.Thr87=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002913960] |
Chr2:166307072 [GRCh38]
Chr2:167163582 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2308G>C (p.Glu770Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003036800] |
Chr2:166280392 [GRCh38]
Chr2:167136902 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5943A>T (p.Lys1981Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003037984] |
Chr2:166198696 [GRCh38]
Chr2:167055206 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3039A>G (p.Ala1013=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002927245] |
Chr2:166272711 [GRCh38]
Chr2:167129221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5559T>A (p.Ser1853Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003037994] |
Chr2:166199080 [GRCh38]
Chr2:167055590 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2033A>G (p.Asp678Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002870732] |
Chr2:166281750 [GRCh38]
Chr2:167138260 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2875-20del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002998971] |
Chr2:166272895 [GRCh38]
Chr2:167129405 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.193G>A (p.Asp65Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002796466] |
Chr2:166311564 [GRCh38]
Chr2:167168074 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5558dup (p.Ser1853fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003079314] |
Chr2:166199080..166199081 [GRCh38]
Chr2:167055590..167055591 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3628-12T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003020704] |
Chr2:166238279 [GRCh38]
Chr2:167094789 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5027A>G (p.Asn1676Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002761190] |
Chr2:166199612 [GRCh38]
Chr2:167056122 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1106A>T (p.Gln369Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002847982] |
Chr2:166293232 [GRCh38]
Chr2:167149742 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5700T>C (p.Tyr1900=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002867547] |
Chr2:166198939 [GRCh38]
Chr2:167055449 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2792C>G (p.Thr931Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003079363] |
Chr2:166277065 [GRCh38]
Chr2:167133575 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4375A>C (p.Asn1459His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003038097] |
Chr2:166226590 [GRCh38]
Chr2:167083100 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.869T>C (p.Met290Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003080521] |
Chr2:166303122 [GRCh38]
Chr2:167159632 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3472+19C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002927346] |
Chr2:166251746 [GRCh38]
Chr2:167108256 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3621T>C (p.Gly1207=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003036288] |
Chr2:166242508 [GRCh38]
Chr2:167099018 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.491C>T (p.Thr164Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002927643] |
Chr2:166305897 [GRCh38]
Chr2:167162407 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1418C>G (p.Ala473Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002620670] |
Chr2:166286520 [GRCh38]
Chr2:167143030 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1560G>A (p.Gly520=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003035798] |
Chr2:166286378 [GRCh38]
Chr2:167142888 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.424T>C (p.Phe142Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002706092] |
Chr2:166306553 [GRCh38]
Chr2:167163063 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3801+8C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002866763] |
Chr2:166238086 [GRCh38]
Chr2:167094596 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4492C>T (p.Pro1498Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002824405] |
Chr2:166204371 [GRCh38]
Chr2:167060881 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3098A>G (p.Lys1033Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002796664] |
Chr2:166272652 [GRCh38]
Chr2:167129162 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4775-15T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002886318] |
Chr2:166199879 [GRCh38]
Chr2:167056389 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4360G>A (p.Gly1454Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003019808] |
Chr2:166226605 [GRCh38]
Chr2:167083115 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1947A>G (p.Ile649Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003020923] |
Chr2:166284480 [GRCh38]
Chr2:167140990 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4385A>G (p.Gln1462Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002913833] |
Chr2:166226580 [GRCh38]
Chr2:167083090 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.98A>G (p.Lys33Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002975686] |
Chr2:166311659 [GRCh38]
Chr2:167168169 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.637C>G (p.Leu213Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003038286] |
Chr2:166304289 [GRCh38]
Chr2:167160799 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2205G>A (p.Lys735=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002820233] |
Chr2:166280495 [GRCh38]
Chr2:167137005 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.500C>A (p.Ser167Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002829878] |
Chr2:166305888 [GRCh38]
Chr2:167162398 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.4012A>G (p.Met1338Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002930399] |
Chr2:166228885 [GRCh38]
Chr2:167085395 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1767T>C (p.Phe589=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002852313] |
Chr2:166284660 [GRCh38]
Chr2:167141170 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4261-4A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002668067] |
Chr2:166226708 [GRCh38]
Chr2:167083218 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3336T>C (p.Ser1112=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002623576] |
Chr2:166272414 [GRCh38]
Chr2:167128924 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3550del (p.Thr1184fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002790947] |
Chr2:166242579 [GRCh38]
Chr2:167099089 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1449G>T (p.Lys483Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002644220] |
Chr2:166286489 [GRCh38]
Chr2:167142999 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5568G>A (p.Met1856Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002933463] |
Chr2:166199071 [GRCh38]
Chr2:167055581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1443G>T (p.Lys481Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002929735] |
Chr2:166286495 [GRCh38]
Chr2:167143005 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.966-9C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003041470] |
Chr2:166293381 [GRCh38]
Chr2:167149891 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3396C>T (p.Asn1132=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002876819] |
Chr2:166251841 [GRCh38]
Chr2:167108351 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.378-3T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002894224] |
Chr2:166306602 [GRCh38]
Chr2:167163112 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5541G>A (p.Lys1847=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002711059] |
Chr2:166199098 [GRCh38]
Chr2:167055608 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4695A>C (p.Lys1565Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002875938] |
Chr2:166204034 [GRCh38]
Chr2:167060544 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.866T>C (p.Ile289Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002829231] |
Chr2:166303125 [GRCh38]
Chr2:167159635 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.125A>G (p.Asp42Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003024157] |
Chr2:166311632 [GRCh38]
Chr2:167168142 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1856A>G (p.His619Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003043363] |
Chr2:166284571 [GRCh38]
Chr2:167141081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3801+15G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002933066] |
Chr2:166238079 [GRCh38]
Chr2:167094589 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1709T>C (p.Phe570Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002623395] |
Chr2:166284718 [GRCh38]
Chr2:167141228 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.164C>G (p.Ala55Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003023215] |
Chr2:166311593 [GRCh38]
Chr2:167168103 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3210G>A (p.Leu1070=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002572443] |
Chr2:166272540 [GRCh38]
Chr2:167129050 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3620G>A (p.Gly1207Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002850907] |
Chr2:166242509 [GRCh38]
Chr2:167099019 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5503C>A (p.Arg1835=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002711287] |
Chr2:166199136 [GRCh38]
Chr2:167055646 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4684T>C (p.Cys1562Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003005776] |
Chr2:166204045 [GRCh38]
Chr2:167060555 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1984A>G (p.Asn662Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002985415] |
Chr2:166281799 [GRCh38]
Chr2:167138309 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2185T>A (p.Tyr729Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002786656] |
Chr2:166280515 [GRCh38]
Chr2:167137025 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3913G>A (p.Glu1305Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003039673] |
Chr2:166233351 [GRCh38]
Chr2:167089861 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2376A>G (p.Val792=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002663970] |
Chr2:166278281 [GRCh38]
Chr2:167134791 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5425C>T (p.Leu1809=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002871933] |
Chr2:166199214 [GRCh38]
Chr2:167055724 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3587del (p.Ser1196fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002890072] |
Chr2:166242542 [GRCh38]
Chr2:167099052 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2298C>T (p.His766=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002667528] |
Chr2:166280402 [GRCh38]
Chr2:167136912 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.468-12T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002574226] |
Chr2:166305932 [GRCh38]
Chr2:167162442 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.689-12T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003085358] |
Chr2:166303314 [GRCh38]
Chr2:167159824 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1326G>T (p.Ala442=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003083226] |
Chr2:166286612 [GRCh38]
Chr2:167143122 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2511C>T (p.Phe837=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002890043] |
Chr2:166278146 [GRCh38]
Chr2:167134656 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3121C>T (p.His1041Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002594988] |
Chr2:166272629 [GRCh38]
Chr2:167129139 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5914G>A (p.Asp1972Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002710782] |
Chr2:166198725 [GRCh38]
Chr2:167055235 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4207-15del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002915043] |
Chr2:166227738 [GRCh38]
Chr2:167084248 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.901+14T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002872362] |
Chr2:166303076 [GRCh38]
Chr2:167159586 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002828833] |
Chr2:166272876 [GRCh38]
Chr2:167129386 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.2991G>C (p.Lys997Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002626446] |
Chr2:166272759 [GRCh38]
Chr2:167129269 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1315-3C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002667492] |
Chr2:166286626 [GRCh38]
Chr2:167143136 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.390G>A (p.Met130Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002850641] |
Chr2:166306587 [GRCh38]
Chr2:167163097 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2392A>T (p.Met798Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002958160] |
Chr2:166278265 [GRCh38]
Chr2:167134775 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2793C>A (p.Thr931=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003059197] |
Chr2:166277064 [GRCh38]
Chr2:167133574 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4080T>G (p.Pro1360=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002958635] |
Chr2:166228817 [GRCh38]
Chr2:167085327 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4788T>C (p.Ala1596=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002914771] |
Chr2:166199851 [GRCh38]
Chr2:167056361 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5127C>T (p.Asn1709=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002872418] |
Chr2:166199512 [GRCh38]
Chr2:167056022 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3180T>G (p.Ser1060Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002932154] |
Chr2:166272570 [GRCh38]
Chr2:167129080 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.378-11T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003025284] |
Chr2:166306610 [GRCh38]
Chr2:167163120 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.77G>T (p.Arg26Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002700583] |
Chr2:166311680 [GRCh38]
Chr2:167168190 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.125A>T (p.Asp42Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002929050] |
Chr2:166311632 [GRCh38]
Chr2:167168142 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2105-6T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002875793] |
Chr2:166280601 [GRCh38]
Chr2:167137111 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1549G>C (p.Gly517Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002575911] |
Chr2:166286389 [GRCh38]
Chr2:167142899 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3363G>A (p.Arg1121=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002801882] |
Chr2:166251874 [GRCh38]
Chr2:167108384 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1615A>T (p.Ile539Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002667171] |
Chr2:166284812 [GRCh38]
Chr2:167141322 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.259-19T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002644540] |
Chr2:166307093 [GRCh38]
Chr2:167163603 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5651T>C (p.Leu1884Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002624736] |
Chr2:166198988 [GRCh38]
Chr2:167055498 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1456A>C (p.Lys486Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002596174] |
Chr2:166286482 [GRCh38]
Chr2:167142992 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1395A>C (p.Thr465=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002626582] |
Chr2:166286543 [GRCh38]
Chr2:167143053 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4121T>C (p.Met1374Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002790443] |
Chr2:166228776 [GRCh38]
Chr2:167085286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.283A>C (p.Lys95Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002826603] |
Chr2:166307050 [GRCh38]
Chr2:167163560 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3802-13G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002710178] |
Chr2:166233475 [GRCh38]
Chr2:167089985 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5964del (p.Lys1988fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003027406] |
Chr2:166198675 [GRCh38]
Chr2:167055185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.966-6G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002632917] |
Chr2:166293378 [GRCh38]
Chr2:167149888 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3717G>T (p.Leu1239=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003031614] |
Chr2:166238178 [GRCh38]
Chr2:167094688 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3427G>T (p.Ala1143Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002632891] |
Chr2:166251810 [GRCh38]
Chr2:167108320 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1523G>A (p.Ser508Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002966115] |
Chr2:166286415 [GRCh38]
Chr2:167142925 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1713C>A (p.Ala571=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003049143] |
Chr2:166284714 [GRCh38]
Chr2:167141224 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4446T>C (p.Tyr1482=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003011477] |
Chr2:166204417 [GRCh38]
Chr2:167060927 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.528C>G (p.Phe176Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003048351] |
Chr2:166305860 [GRCh38]
Chr2:167162370 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3122A>T (p.His1041Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002811972] |
Chr2:166272628 [GRCh38]
Chr2:167129138 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4511T>A (p.Ile1504Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002676591] |
Chr2:166204218 [GRCh38]
Chr2:167060728 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5358G>A (p.Trp1786Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003064201] |
Chr2:166199281 [GRCh38]
Chr2:167055791 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1272A>G (p.Gln424=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003048379] |
Chr2:166288479 [GRCh38]
Chr2:167144989 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4496G>T (p.Arg1499Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003031253] |
Chr2:166204367 [GRCh38]
Chr2:167060877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2374G>A (p.Val792Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002811193] |
Chr2:166278283 [GRCh38]
Chr2:167134793 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5197C>A (p.Pro1733Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002920748] |
Chr2:166199442 [GRCh38]
Chr2:167055952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.345A>G (p.Leu115=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002745982] |
Chr2:166306988 [GRCh38]
Chr2:167163498 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2730G>A (p.Met910Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002651561] |
Chr2:166277127 [GRCh38]
Chr2:167133637 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4367T>C (p.Ile1456Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003048957] |
Chr2:166226598 [GRCh38]
Chr2:167083108 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5644A>G (p.Thr1882Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002597481] |
Chr2:166198995 [GRCh38]
Chr2:167055505 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2105-5C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002895772] |
Chr2:166280600 [GRCh38]
Chr2:167137110 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-20C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002833738] |
Chr2:166272895 [GRCh38]
Chr2:167129405 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2704G>A (p.Asp902Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003087303] |
Chr2:166277153 [GRCh38]
Chr2:167133663 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.398T>C (p.Met133Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002833136] |
Chr2:166306579 [GRCh38]
Chr2:167163089 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2002A>T (p.Arg668Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003045742] |
Chr2:166281781 [GRCh38]
Chr2:167138291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503+18T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003088948] |
Chr2:166204342 [GRCh38]
Chr2:167060852 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.394A>G (p.Ile132Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002937951] |
Chr2:166306583 [GRCh38]
Chr2:167163093 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2593G>C (p.Ala865Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003062774]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003068002] |
Chr2:166277264 [GRCh38]
Chr2:167133774 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4398+14A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003026729] |
Chr2:166226553 [GRCh38]
Chr2:167083063 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3471T>C (p.Asp1157=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002600340] |
Chr2:166251766 [GRCh38]
Chr2:167108276 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3519G>C (p.Gly1173=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003088810] |
Chr2:166242610 [GRCh38]
Chr2:167099120 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.217G>A (p.Glu73Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002963003] |
Chr2:166311540 [GRCh38]
Chr2:167168050 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5775T>C (p.Asp1925=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002746205] |
Chr2:166198864 [GRCh38]
Chr2:167055374 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5680A>G (p.Thr1894Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002645903] |
Chr2:166198959 [GRCh38]
Chr2:167055469 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3437T>A (p.Met1146Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002962211] |
Chr2:166251800 [GRCh38]
Chr2:167108310 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4236G>A (p.Met1412Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003027867] |
Chr2:166227694 [GRCh38]
Chr2:167084204 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1432A>T (p.Asn478Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002647457] |
Chr2:166286506 [GRCh38]
Chr2:167143016 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2836A>G (p.Ile946Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002629832] |
Chr2:166277021 [GRCh38]
Chr2:167133531 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1041C>G (p.Phe347Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003027636] |
Chr2:166293297 [GRCh38]
Chr2:167149807 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5543G>C (p.Arg1848Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002647466] |
Chr2:166199096 [GRCh38]
Chr2:167055606 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3351+2T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002856760] |
Chr2:166272397 [GRCh38]
Chr2:167128907 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.2661C>G (p.Leu887=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003089943] |
Chr2:166277196 [GRCh38]
Chr2:167133706 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3351+17T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003088226] |
Chr2:166272382 [GRCh38]
Chr2:167128892 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3043T>C (p.Ser1015Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002933710] |
Chr2:166272707 [GRCh38]
Chr2:167129217 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1603-3C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002579410] |
Chr2:166284827 [GRCh38]
Chr2:167141337 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4845C>T (p.Ala1615=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002632289] |
Chr2:166199794 [GRCh38]
Chr2:167056304 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4883A>G (p.Lys1628Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002645928] |
Chr2:166199756 [GRCh38]
Chr2:167056266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4783C>G (p.Leu1595Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003010125] |
Chr2:166199856 [GRCh38]
Chr2:167056366 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4065T>C (p.Asp1355=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002720972] |
Chr2:166228832 [GRCh38]
Chr2:167085342 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1958C>T (p.Ala653Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002651302] |
Chr2:166284469 [GRCh38]
Chr2:167140979 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2118C>T (p.Ser706=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003028718] |
Chr2:166280582 [GRCh38]
Chr2:167137092 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2845ATG[1] (p.Met950del) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003060841] |
Chr2:166277007..166277009 [GRCh38]
Chr2:167133517..167133519 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5891C>T (p.Pro1964Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003044593] |
Chr2:166198748 [GRCh38]
Chr2:167055258 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3352A>C (p.Arg1118=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002578466] |
Chr2:166251885 [GRCh38]
Chr2:167108395 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1119_1120inv (p.Ala374Thr) |
inversion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003062663] |
Chr2:166288631..166288632 [GRCh38]
Chr2:167145141..167145142 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3393T>C (p.Asp1131=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002578158] |
Chr2:166251844 [GRCh38]
Chr2:167108354 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5830G>A (p.Glu1944Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003091114] |
Chr2:166198809 [GRCh38]
Chr2:167055319 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3715C>A (p.Leu1239Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002579980] |
Chr2:166238180 [GRCh38]
Chr2:167094690 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.259-16_259-13del |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002716792] |
Chr2:166307087..166307090 [GRCh38]
Chr2:167163597..167163600 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.650_651delinsCT (p.Arg217Thr) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002811990] |
Chr2:166304275..166304276 [GRCh38]
Chr2:167160785..167160786 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3224A>G (p.Asp1075Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003048042] |
Chr2:166272526 [GRCh38]
Chr2:167129036 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4141C>T (p.Arg1381Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003060468] |
Chr2:166228756 [GRCh38]
Chr2:167085266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2104+12T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002966572] |
Chr2:166281667 [GRCh38]
Chr2:167138177 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3082G>A (p.Glu1028Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003010417] |
Chr2:166272668 [GRCh38]
Chr2:167129178 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4173T>C (p.Asn1391=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002632278] |
Chr2:166228724 [GRCh38]
Chr2:167085234 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5963A>C (p.Lys1988Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002806950] |
Chr2:166198676 [GRCh38]
Chr2:167055186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2868C>T (p.Asn956=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002721875] |
Chr2:166276989 [GRCh38]
Chr2:167133499 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3447T>G (p.Asp1149Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003067890] |
Chr2:166251790 [GRCh38]
Chr2:167108300 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1315-16G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002654982] |
Chr2:166286639 [GRCh38]
Chr2:167143149 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3835G>A (p.Gly1279Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003069027] |
Chr2:166233429 [GRCh38]
Chr2:167089939 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2712G>C (p.Thr904=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002725982] |
Chr2:166277145 [GRCh38]
Chr2:167133655 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1869C>G (p.Asp623Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002944246] |
Chr2:166284558 [GRCh38]
Chr2:167141068 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5665G>A (p.Glu1889Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003066722] |
Chr2:166198974 [GRCh38]
Chr2:167055484 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2022C>A (p.Leu674=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003052502] |
Chr2:166281761 [GRCh38]
Chr2:167138271 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4775-12C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003052635] |
Chr2:166199876 [GRCh38]
Chr2:167056386 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4803G>A (p.Thr1601=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003069625] |
Chr2:166199836 [GRCh38]
Chr2:167056346 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.248C>T (p.Ala83Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003093459] |
Chr2:166311509 [GRCh38]
Chr2:167168019 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4629G>C (p.Met1543Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002726044] |
Chr2:166204100 [GRCh38]
Chr2:167060610 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1315-7del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003051345] |
Chr2:166286630 [GRCh38]
Chr2:167143140 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1528del (p.Arg510fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003068900] |
Chr2:166286410 [GRCh38]
Chr2:167142920 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.468-1G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002721930] |
Chr2:166305921 [GRCh38]
Chr2:167162431 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.2472T>C (p.Phe824=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002605197] |
Chr2:166278185 [GRCh38]
Chr2:167134695 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002942214] |
Chr2:166311752 [GRCh38]
Chr2:167168262 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2373G>A (p.Met791Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002633262] |
Chr2:166278284 [GRCh38]
Chr2:167134794 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2152G>T (p.Ala718Ser) |
single nucleotide variant |
not provided [RCV003154155] |
Chr2:166280548 [GRCh38]
Chr2:167137058 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.202C>T (p.Pro68Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003069556] |
Chr2:166311555 [GRCh38]
Chr2:167168065 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2961C>T (p.Asn987=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003092344] |
Chr2:166272789 [GRCh38]
Chr2:167129299 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1570G>C (p.Ala524Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003051790] |
Chr2:166286368 [GRCh38]
Chr2:167142878 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.545C>T (p.Thr182Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003052005] |
Chr2:166305843 [GRCh38]
Chr2:167162353 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.689-16T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002814632] |
Chr2:166303318 [GRCh38]
Chr2:167159828 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3869G>T (p.Arg1290Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003067968] |
Chr2:166233395 [GRCh38]
Chr2:167089905 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1830A>G (p.Pro610=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002658016] |
Chr2:166284597 [GRCh38]
Chr2:167141107 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5359G>A (p.Glu1787Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003049482] |
Chr2:166199280 [GRCh38]
Chr2:167055790 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596+1del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003052154] |
Chr2:166305791 [GRCh38]
Chr2:167162301 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.4692A>T (p.Leu1564=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002583416] |
Chr2:166204037 [GRCh38]
Chr2:167060547 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.468G>A (p.Glu156=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002604338] |
Chr2:166305920 [GRCh38]
Chr2:167162430 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1902C>A (p.Arg634=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002612922] |
Chr2:166284525 [GRCh38]
Chr2:167141035 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.187T>A (p.Tyr63Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002613010] |
Chr2:166311570 [GRCh38]
Chr2:167168080 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4638_4640dup (p.Val1546_Leu1547insPhe) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002586692] |
Chr2:166204088..166204089 [GRCh38]
Chr2:167060598..167060599 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4305T>C (p.Ile1435=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002588614] |
Chr2:166226660 [GRCh38]
Chr2:167083170 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.378-20G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002611283] |
Chr2:166306619 [GRCh38]
Chr2:167163129 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2189G>T (p.Trp730Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003069770] |
Chr2:166280511 [GRCh38]
Chr2:167137021 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2849T>C (p.Met950Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002606676] |
Chr2:166277008 [GRCh38]
Chr2:167133518 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3444C>T (p.Ser1148=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002608469] |
Chr2:166251793 [GRCh38]
Chr2:167108303 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4712A>G (p.His1571Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002612214] |
Chr2:166204017 [GRCh38]
Chr2:167060527 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2015C>G (p.Ser672Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002587903] |
Chr2:166281768 [GRCh38]
Chr2:167138278 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1961C>A (p.Thr654Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002612357] |
Chr2:166284466 [GRCh38]
Chr2:167140976 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1876G>A (p.Gly626Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002610576] |
Chr2:166284551 [GRCh38]
Chr2:167141061 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1288C>A (p.Leu430Ile) |
single nucleotide variant |
not provided [RCV003223970] |
Chr2:166288463 [GRCh38]
Chr2:167144973 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1499T>C (p.Leu500Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003209226]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003779689] |
Chr2:166286439 [GRCh38]
Chr2:167142949 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.935C>T (p.Ala312Val) |
single nucleotide variant |
not provided [RCV003136521] |
Chr2:166294629 [GRCh38]
Chr2:167151139 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4222T>C (p.Trp1408Arg) |
single nucleotide variant |
not provided [RCV003136522] |
Chr2:166227708 [GRCh38]
Chr2:167084218 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.817C>T (p.His273Tyr) |
single nucleotide variant |
not provided [RCV003218947] |
Chr2:166303174 [GRCh38]
Chr2:167159684 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2874+12delinsTT |
indel |
Primary erythromelalgia [RCV003228179] |
Chr2:166276971 [GRCh38]
Chr2:167133481 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2894C>T (p.Ala965Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003262204] |
Chr2:166272856 [GRCh38]
Chr2:167129366 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2621C>T (p.Ala874Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003285910] |
Chr2:166277236 [GRCh38]
Chr2:167133746 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2039T>C (p.Leu680Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003308986] |
Chr2:166281744 [GRCh38]
Chr2:167138254 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4556T>C (p.Ile1519Thr) |
single nucleotide variant |
not provided [RCV003328896] |
Chr2:166204173 [GRCh38]
Chr2:167060683 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5269G>A (p.Ala1757Thr) |
single nucleotide variant |
not provided [RCV003332637] |
Chr2:166199370 [GRCh38]
Chr2:167055880 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.130G>A (p.Glu44Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003386064] |
Chr2:166311627 [GRCh38]
Chr2:167168137 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3970G>A (p.Val1324Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003375163] |
Chr2:166228927 [GRCh38]
Chr2:167085437 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3923G>C (p.Arg1308Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003375762] |
Chr2:166233341 [GRCh38]
Chr2:167089851 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.601T>A (p.Leu201Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003373127] |
Chr2:166304325 [GRCh38]
Chr2:167160835 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2002del (p.Arg668fs) |
deletion |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV003448550] |
Chr2:166281781 [GRCh38]
Chr2:167138291 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.468-1G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792415] |
Chr2:166305921 [GRCh38]
Chr2:167162431 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.4343C>T (p.Thr1448Ile) |
single nucleotide variant |
not provided [RCV003457303] |
Chr2:166226622 [GRCh38]
Chr2:167083132 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3925-10T>C |
single nucleotide variant |
not specified [RCV003489741] |
Chr2:166228982 [GRCh38]
Chr2:167085492 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2609C>T (p.Thr870Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790843] |
Chr2:166277248 [GRCh38]
Chr2:167133758 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2169C>G (p.Ile723Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791599] |
Chr2:166280531 [GRCh38]
Chr2:167137041 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.468-18A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790901] |
Chr2:166305938 [GRCh38]
Chr2:167162448 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1502C>T (p.Ser501Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003778411]|not provided [RCV003429353] |
Chr2:166286436 [GRCh38]
Chr2:167142946 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:167218671-167280849)x1 |
copy number loss |
not provided [RCV003485150] |
Chr2:167218671..167280849 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166937534-167234294)x3 |
copy number gain |
not provided [RCV003484079] |
Chr2:166937534..167234294 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5444T>C (p.Ile1815Thr) |
single nucleotide variant |
not specified [RCV003479770] |
Chr2:166199195 [GRCh38]
Chr2:167055705 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4207G>T (p.Ala1403Ser) |
single nucleotide variant |
not specified [RCV003479878] |
Chr2:166227723 [GRCh38]
Chr2:167084233 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3223G>A (p.Asp1075Asn) |
single nucleotide variant |
not provided [RCV003436233] |
Chr2:166272527 [GRCh38]
Chr2:167129037 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3421G>A (p.Ala1141Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791626] |
Chr2:166251816 [GRCh38]
Chr2:167108326 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.438T>A (p.Asn146Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791123] |
Chr2:166306539 [GRCh38]
Chr2:167163049 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3182G>A (p.Gly1061Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791130] |
Chr2:166272568 [GRCh38]
Chr2:167129078 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5432C>T (p.Pro1811Leu) |
single nucleotide variant |
Primary erythromelalgia [RCV003388763] |
Chr2:166199207 [GRCh38]
Chr2:167055717 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4260+3A>G |
single nucleotide variant |
not provided [RCV003429352] |
Chr2:166227667 [GRCh38]
Chr2:167084177 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.467+18C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783369] |
Chr2:166306492 [GRCh38]
Chr2:167163002 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4535T>G (p.Val1512Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794939] |
Chr2:166204194 [GRCh38]
Chr2:167060704 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3981G>A (p.Val1327=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797303] |
Chr2:166228916 [GRCh38]
Chr2:167085426 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3110A>T (p.Tyr1037Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792210] |
Chr2:166272640 [GRCh38]
Chr2:167129150 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4775-13C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797048] |
Chr2:166199877 [GRCh38]
Chr2:167056387 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4160T>C (p.Val1387Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795033] |
Chr2:166228737 [GRCh38]
Chr2:167085247 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.708G>A (p.Gly236=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784736] |
Chr2:166303283 [GRCh38]
Chr2:167159793 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1691T>A (p.Ile564Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795067] |
Chr2:166284736 [GRCh38]
Chr2:167141246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.373C>T (p.His125Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797761] |
Chr2:166306960 [GRCh38]
Chr2:167163470 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3209_3211delinsCTT (p.Leu1070_Met1071delinsSerLeu) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784501] |
Chr2:166272539..166272541 [GRCh38]
Chr2:167129049..167129051 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.280G>A (p.Gly94Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793853] |
Chr2:166307053 [GRCh38]
Chr2:167163563 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5603T>C (p.Met1868Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796381] |
Chr2:166199036 [GRCh38]
Chr2:167055546 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5231T>A (p.Ile1744Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792412] |
Chr2:166199408 [GRCh38]
Chr2:167055918 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.195C>G (p.Asp65Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804030] |
Chr2:166311562 [GRCh38]
Chr2:167168072 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3602T>C (p.Met1201Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797736] |
Chr2:166242527 [GRCh38]
Chr2:167099037 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2216T>C (p.Phe739Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795039] |
Chr2:166280484 [GRCh38]
Chr2:167136994 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5858C>A (p.Thr1953Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806484] |
Chr2:166198781 [GRCh38]
Chr2:167055291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5484G>T (p.Leu1828=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785061] |
Chr2:166199155 [GRCh38]
Chr2:167055665 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.259-13T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784779] |
Chr2:166307087 [GRCh38]
Chr2:167163597 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3937G>A (p.Ala1313Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795128] |
Chr2:166228960 [GRCh38]
Chr2:167085470 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3796G>A (p.Val1266Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785134] |
Chr2:166238099 [GRCh38]
Chr2:167094609 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2108T>G (p.Leu703Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786326] |
Chr2:166280592 [GRCh38]
Chr2:167137102 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3924+12C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807314] |
Chr2:166233328 [GRCh38]
Chr2:167089838 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4155G>A (p.Leu1385=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807607] |
Chr2:166228742 [GRCh38]
Chr2:167085252 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5558G>C (p.Ser1853Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791228] |
Chr2:166199081 [GRCh38]
Chr2:167055591 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.364A>G (p.Ile122Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795191] |
Chr2:166306969 [GRCh38]
Chr2:167163479 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5863C>A (p.Pro1955Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806585] |
Chr2:166198776 [GRCh38]
Chr2:167055286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4766C>T (p.Ser1589Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797151] |
Chr2:166203963 [GRCh38]
Chr2:167060473 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3628-1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782490] |
Chr2:166238268 [GRCh38]
Chr2:167094778 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.4804T>G (p.Tyr1602Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795258] |
Chr2:166199835 [GRCh38]
Chr2:167056345 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2946C>A (p.Asp982Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788967] |
Chr2:166272804 [GRCh38]
Chr2:167129314 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3277C>T (p.Pro1093Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790230] |
Chr2:166272473 [GRCh38]
Chr2:167128983 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2012G>C (p.Ser671Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795371] |
Chr2:166281771 [GRCh38]
Chr2:167138281 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3488T>C (p.Phe1163Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782681] |
Chr2:166242641 [GRCh38]
Chr2:167099151 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3705C>T (p.Tyr1235=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797523] |
Chr2:166238190 [GRCh38]
Chr2:167094700 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3249C>G (p.Pro1083=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795451] |
Chr2:166272501 [GRCh38]
Chr2:167129011 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2469C>G (p.Leu823=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792999] |
Chr2:166278188 [GRCh38]
Chr2:167134698 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1831A>G (p.Met611Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804611] |
Chr2:166284596 [GRCh38]
Chr2:167141106 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.540A>C (p.Glu180Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807572] |
Chr2:166305848 [GRCh38]
Chr2:167162358 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4078C>T (p.Pro1360Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790362] |
Chr2:166228819 [GRCh38]
Chr2:167085329 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3165A>C (p.Glu1055Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807168] |
Chr2:166272585 [GRCh38]
Chr2:167129095 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5874_5877dup (p.Ser1960Ter) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807197] |
Chr2:166198761..166198762 [GRCh38]
Chr2:167055271..167055272 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5065A>G (p.Ile1689Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797017] |
Chr2:166199574 [GRCh38]
Chr2:167056084 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5823_5827dup (p.Pro1943fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797660] |
Chr2:166198811..166198812 [GRCh38]
Chr2:167055321..167055322 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2702A>G (p.Asp901Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807996] |
Chr2:166277155 [GRCh38]
Chr2:167133665 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4611G>A (p.Glu1537=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781596] |
Chr2:166204118 [GRCh38]
Chr2:167060628 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4864C>T (p.Arg1622Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794349] |
Chr2:166199775 [GRCh38]
Chr2:167056285 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1584G>A (p.Arg528=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795657] |
Chr2:166286354 [GRCh38]
Chr2:167142864 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4620T>C (p.Ser1540=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783060] |
Chr2:166204109 [GRCh38]
Chr2:167060619 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3366A>C (p.Ser1122=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795998] |
Chr2:166251871 [GRCh38]
Chr2:167108381 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2331T>C (p.Ala777=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807879] |
Chr2:166280369 [GRCh38]
Chr2:167136879 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3628-3C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780172] |
Chr2:166238270 [GRCh38]
Chr2:167094780 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1259A>G (p.Glu420Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796899] |
Chr2:166288492 [GRCh38]
Chr2:167145002 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.32G>A (p.Ser11Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785824] |
Chr2:166311725 [GRCh38]
Chr2:167168235 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2532G>A (p.Lys844=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807481] |
Chr2:166277325 [GRCh38]
Chr2:167133835 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1315-5A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797434] |
Chr2:166286628 [GRCh38]
Chr2:167143138 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.102del (p.Glu34fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807774] |
Chr2:166311655 [GRCh38]
Chr2:167168165 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.751C>T (p.Leu251=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797689] |
Chr2:166303240 [GRCh38]
Chr2:167159750 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1436G>A (p.Arg479Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797768] |
Chr2:166286502 [GRCh38]
Chr2:167143012 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.757G>A (p.Val253Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807505] |
Chr2:166303234 [GRCh38]
Chr2:167159744 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1330G>A (p.Ala444Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807672] |
Chr2:166286608 [GRCh38]
Chr2:167143118 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2801A>C (p.Asp934Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797343] |
Chr2:166277056 [GRCh38]
Chr2:167133566 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3755C>T (p.Thr1252Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780201] |
Chr2:166238140 [GRCh38]
Chr2:167094650 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4964T>G (p.Met1655Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785307] |
Chr2:166199675 [GRCh38]
Chr2:167056185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5650C>T (p.Leu1884=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796053] |
Chr2:166198989 [GRCh38]
Chr2:167055499 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1107+12G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789590] |
Chr2:166293219 [GRCh38]
Chr2:167149729 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.561G>T (p.Pro187=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806286] |
Chr2:166305827 [GRCh38]
Chr2:167162337 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3868C>A (p.Arg1290=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786712] |
Chr2:166233396 [GRCh38]
Chr2:167089906 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.258+3G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782651] |
Chr2:166311496 [GRCh38]
Chr2:167168006 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4504-13T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783380] |
Chr2:166204238 [GRCh38]
Chr2:167060748 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1277T>G (p.Met426Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793705] |
Chr2:166288474 [GRCh38]
Chr2:167144984 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1875C>A (p.Asn625Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784673] |
Chr2:166284552 [GRCh38]
Chr2:167141062 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4665A>G (p.Ile1555Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784133] |
Chr2:166204064 [GRCh38]
Chr2:167060574 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.933T>A (p.Asp311Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796352] |
Chr2:166294631 [GRCh38]
Chr2:167151141 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3415G>A (p.Glu1139Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796355] |
Chr2:166251822 [GRCh38]
Chr2:167108332 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC |
insertion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794328] |
Chr2:166286334..166286335 [GRCh38]
Chr2:167142844..167142845 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.1008C>A (p.Asn336Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003805283] |
Chr2:166293330 [GRCh38]
Chr2:167149840 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5377G>A (p.Ala1793Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785337] |
Chr2:166199262 [GRCh38]
Chr2:167055772 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3619G>A (p.Gly1207Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785388] |
Chr2:166242510 [GRCh38]
Chr2:167099020 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5523C>G (p.Ile1841Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003805329] |
Chr2:166199116 [GRCh38]
Chr2:167055626 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5824dup (p.Ser1942fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795238] |
Chr2:166198814..166198815 [GRCh38]
Chr2:167055324..167055325 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5395T>C (p.Phe1799Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003805383] |
Chr2:166199244 [GRCh38]
Chr2:167055754 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.558C>T (p.Asp186=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789083] |
Chr2:166305830 [GRCh38]
Chr2:167162340 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4288A>G (p.Ser1430Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789158] |
Chr2:166226677 [GRCh38]
Chr2:167083187 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3472+16A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794519] |
Chr2:166251749 [GRCh38]
Chr2:167108259 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.191G>A (p.Gly64Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794793] |
Chr2:166311566 [GRCh38]
Chr2:167168076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.222C>T (p.Pro74=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794839] |
Chr2:166311535 [GRCh38]
Chr2:167168045 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5905T>C (p.Tyr1969His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786142] |
Chr2:166198734 [GRCh38]
Chr2:167055244 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5844C>T (p.Ala1948=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785083] |
Chr2:166198795 [GRCh38]
Chr2:167055305 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5454C>T (p.Pro1818=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793226] |
Chr2:166199185 [GRCh38]
Chr2:167055695 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3215A>G (p.Glu1072Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804771] |
Chr2:166272535 [GRCh38]
Chr2:167129045 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3473-9T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787013] |
Chr2:166242665 [GRCh38]
Chr2:167099175 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5410G>C (p.Asp1804His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787755] |
Chr2:166199229 [GRCh38]
Chr2:167055739 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4546G>C (p.Ala1516Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787645] |
Chr2:166204183 [GRCh38]
Chr2:167060693 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4266C>A (p.Asp1422Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789230] |
Chr2:166226699 [GRCh38]
Chr2:167083209 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1538G>A (p.Ser513Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780579] |
Chr2:166286400 [GRCh38]
Chr2:167142910 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3446A>T (p.Asp1149Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792493] |
Chr2:166251791 [GRCh38]
Chr2:167108301 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.523G>A (p.Gly175Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792515] |
Chr2:166305865 [GRCh38]
Chr2:167162375 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5743A>G (p.Ile1915Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793282] |
Chr2:166198896 [GRCh38]
Chr2:167055406 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2969T>A (p.Ile990Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806359] |
Chr2:166272781 [GRCh38]
Chr2:167129291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1213T>C (p.Tyr405His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786378] |
Chr2:166288538 [GRCh38]
Chr2:167145048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2135C>G (p.Pro712Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789206] |
Chr2:166280565 [GRCh38]
Chr2:167137075 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2059C>A (p.Gln687Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790523] |
Chr2:166281724 [GRCh38]
Chr2:167138234 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.67A>T (p.Ile23Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791669] |
Chr2:166311690 [GRCh38]
Chr2:167168200 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1349T>A (p.Ile450Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792562] |
Chr2:166286589 [GRCh38]
Chr2:167143099 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1975-20T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796719] |
Chr2:166281828 [GRCh38]
Chr2:167138338 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2104+16C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792628] |
Chr2:166281663 [GRCh38]
Chr2:167138173 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4120A>T (p.Met1374Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804290] |
Chr2:166228777 [GRCh38]
Chr2:167085287 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5918G>T (p.Arg1973Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806773] |
Chr2:166198721 [GRCh38]
Chr2:167055231 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1906G>A (p.Ala636Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789351] |
Chr2:166284521 [GRCh38]
Chr2:167141031 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3340T>C (p.Tyr1114His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790027] |
Chr2:166272410 [GRCh38]
Chr2:167128920 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.260C>A (p.Thr87Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781512] |
Chr2:166307073 [GRCh38]
Chr2:167163583 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2192T>C (p.Ile731Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792645] |
Chr2:166280508 [GRCh38]
Chr2:167137018 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4774+10T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794706] |
Chr2:166203945 [GRCh38]
Chr2:167060455 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4607A>T (p.Lys1536Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786270] |
Chr2:166204122 [GRCh38]
Chr2:167060632 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4953C>T (p.Leu1651=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788742] |
Chr2:166199686 [GRCh38]
Chr2:167056196 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3191G>C (p.Ser1064Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791821] |
Chr2:166272559 [GRCh38]
Chr2:167129069 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3875T>G (p.Leu1292Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791859] |
Chr2:166233389 [GRCh38]
Chr2:167089899 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5964dup (p.Ter1989IleextTer?) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804992] |
Chr2:166198674..166198675 [GRCh38]
Chr2:167055184..167055185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3628-8T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785675] |
Chr2:166238275 [GRCh38]
Chr2:167094785 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3898G>A (p.Ala1300Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789504] |
Chr2:166233366 [GRCh38]
Chr2:167089876 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3096T>G (p.Thr1032=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790710] |
Chr2:166272654 [GRCh38]
Chr2:167129164 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3295G>A (p.Glu1099Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793522] |
Chr2:166272455 [GRCh38]
Chr2:167128965 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4551T>A (p.Phe1517Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804379] |
Chr2:166204178 [GRCh38]
Chr2:167060688 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3443C>T (p.Ser1148Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794852] |
Chr2:166251794 [GRCh38]
Chr2:167108304 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4084del (p.Ser1362fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795562] |
Chr2:166228813 [GRCh38]
Chr2:167085323 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.149G>C (p.Ser50Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785245] |
Chr2:166311608 [GRCh38]
Chr2:167168118 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5490G>C (p.Met1830Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796046] |
Chr2:166199149 [GRCh38]
Chr2:167055659 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.41A>G (p.His14Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790203] |
Chr2:166311716 [GRCh38]
Chr2:167168226 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3637G>A (p.Asp1213Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792041] |
Chr2:166238258 [GRCh38]
Chr2:167094768 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5238A>C (p.Ile1746=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782249] |
Chr2:166199401 [GRCh38]
Chr2:167055911 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.12G>A (p.Leu4=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792600] |
Chr2:166311745 [GRCh38]
Chr2:167168255 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3839A>T (p.Tyr1280Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781212] |
Chr2:166233425 [GRCh38]
Chr2:167089935 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1602+17T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804782] |
Chr2:166286319 [GRCh38]
Chr2:167142829 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5051T>C (p.Phe1684Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003805269] |
Chr2:166199588 [GRCh38]
Chr2:167056098 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4927G>C (p.Ala1643Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797288] |
Chr2:166199712 [GRCh38]
Chr2:167056222 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1524C>A (p.Ser508Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788609] |
Chr2:166286414 [GRCh38]
Chr2:167142924 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.689G>A (p.Gly230Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796770] |
Chr2:166303302 [GRCh38]
Chr2:167159812 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3336T>A (p.Ser1112Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807491] |
Chr2:166272414 [GRCh38]
Chr2:167128924 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2684G>A (p.Cys895Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807493] |
Chr2:166277173 [GRCh38]
Chr2:167133683 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.974C>T (p.Pro325Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789451] |
Chr2:166293364 [GRCh38]
Chr2:167149874 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1028G>C (p.Ser343Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795126] |
Chr2:166293310 [GRCh38]
Chr2:167149820 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1603-20T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795136] |
Chr2:166284844 [GRCh38]
Chr2:167141354 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1018G>T (p.Gly340Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807267] |
Chr2:166293320 [GRCh38]
Chr2:167149830 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2517+16G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788761] |
Chr2:166278124 [GRCh38]
Chr2:167134634 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2072G>A (p.Ser691Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806662] |
Chr2:166281711 [GRCh38]
Chr2:167138221 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4775-1G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807036] |
Chr2:166199865 [GRCh38]
Chr2:167056375 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.122A>G (p.Asp41Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796802] |
Chr2:166311635 [GRCh38]
Chr2:167168145 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.919G>A (p.Glu307Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807285] |
Chr2:166294645 [GRCh38]
Chr2:167151155 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5242T>C (p.Phe1748Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784872] |
Chr2:166199397 [GRCh38]
Chr2:167055907 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.322A>G (p.Met108Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796825] |
Chr2:166307011 [GRCh38]
Chr2:167163521 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.127G>A (p.Asp43Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804985] |
Chr2:166311630 [GRCh38]
Chr2:167168140 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2466G>A (p.Glu822=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795663] |
Chr2:166278191 [GRCh38]
Chr2:167134701 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.246T>C (p.Tyr82=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787349] |
Chr2:166311511 [GRCh38]
Chr2:167168021 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.567C>G (p.Asn189Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788127] |
Chr2:166305821 [GRCh38]
Chr2:167162331 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.492T>G (p.Thr164=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794772] |
Chr2:166305896 [GRCh38]
Chr2:167162406 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.960T>C (p.Asp320=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784944] |
Chr2:166294604 [GRCh38]
Chr2:167151114 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4144T>C (p.Trp1382Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795712] |
Chr2:166228753 [GRCh38]
Chr2:167085263 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.742G>T (p.Val248Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806744] |
Chr2:166303249 [GRCh38]
Chr2:167159759 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.281G>A (p.Gly94Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786886] |
Chr2:166307052 [GRCh38]
Chr2:167163562 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3725T>G (p.Leu1242Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781561] |
Chr2:166238170 [GRCh38]
Chr2:167094680 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3711C>A (p.Phe1237Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783995] |
Chr2:166238184 [GRCh38]
Chr2:167094694 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4279T>G (p.Tyr1427Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804588] |
Chr2:166226686 [GRCh38]
Chr2:167083196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3934A>G (p.Asn1312Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003795283] |
Chr2:166228963 [GRCh38]
Chr2:167085473 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5964A>C (p.Lys1988Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793515] |
Chr2:166198675 [GRCh38]
Chr2:167055185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5096G>C (p.Gly1699Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780397] |
Chr2:166199543 [GRCh38]
Chr2:167056053 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.531T>A (p.Cys177Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789763] |
Chr2:166305857 [GRCh38]
Chr2:167162367 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5410G>A (p.Asp1804Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806800] |
Chr2:166199229 [GRCh38]
Chr2:167055739 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4143A>T (p.Arg1381=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003796838] |
Chr2:166228754 [GRCh38]
Chr2:167085264 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3013A>G (p.Thr1005Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003807391] |
Chr2:166272737 [GRCh38]
Chr2:167129247 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.377+5C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792051] |
Chr2:166306951 [GRCh38]
Chr2:167163461 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.553C>A (p.Arg185Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794418] |
Chr2:166305835 [GRCh38]
Chr2:167162345 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3385A>C (p.Thr1129Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003806822] |
Chr2:166251852 [GRCh38]
Chr2:167108362 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3865C>T (p.Leu1289Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003797167] |
Chr2:166233399 [GRCh38]
Chr2:167089909 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2154A>G (p.Ala718=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804686] |
Chr2:166280546 [GRCh38]
Chr2:167137056 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3473-15T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786248] |
Chr2:166242671 [GRCh38]
Chr2:167099181 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1708T>C (p.Phe570Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792311] |
Chr2:166284719 [GRCh38]
Chr2:167141229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2681A>T (p.Glu894Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793790] |
Chr2:166277176 [GRCh38]
Chr2:167133686 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5019T>A (p.Asp1673Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780509] |
Chr2:166199620 [GRCh38]
Chr2:167056130 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1416T>G (p.Ser472Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003785115] |
Chr2:166286522 [GRCh38]
Chr2:167143032 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1751G>A (p.Arg584Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794512] |
Chr2:166284676 [GRCh38]
Chr2:167141186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2009G>T (p.Cys670Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786359] |
Chr2:166281774 [GRCh38]
Chr2:167138284 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.597G>T (p.Ala199=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788511] |
Chr2:166304329 [GRCh38]
Chr2:167160839 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4207-9T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781182] |
Chr2:166227732 [GRCh38]
Chr2:167084242 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2332A>T (p.Ile778Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003784672] |
Chr2:166280368 [GRCh38]
Chr2:167136878 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4261-16T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788949] |
Chr2:166226720 [GRCh38]
Chr2:167083230 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1653A>G (p.Arg551=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788478] |
Chr2:166284774 [GRCh38]
Chr2:167141284 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-16C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789947] |
Chr2:166272891 [GRCh38]
Chr2:167129401 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2875-12A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786784] |
Chr2:166272887 [GRCh38]
Chr2:167129397 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5667G>C (p.Glu1889Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788288] |
Chr2:166198972 [GRCh38]
Chr2:167055482 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4666A>C (p.Ile1556Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791304] |
Chr2:166204063 [GRCh38]
Chr2:167060573 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3193A>C (p.Ser1065Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780467] |
Chr2:166272557 [GRCh38]
Chr2:167129067 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3110A>G (p.Tyr1037Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790461] |
Chr2:166272640 [GRCh38]
Chr2:167129150 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4995C>T (p.Asn1665=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781127] |
Chr2:166199644 [GRCh38]
Chr2:167056154 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3744T>C (p.Tyr1248=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782430] |
Chr2:166238151 [GRCh38]
Chr2:167094661 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3473-20A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793203] |
Chr2:166242676 [GRCh38]
Chr2:167099186 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2533T>C (p.Leu845=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786966] |
Chr2:166277324 [GRCh38]
Chr2:167133834 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3473-19T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787214] |
Chr2:166242675 [GRCh38]
Chr2:167099185 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3588C>T (p.Ser1196=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788628] |
Chr2:166242541 [GRCh38]
Chr2:167099051 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2700T>C (p.Asn900=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788724] |
Chr2:166277157 [GRCh38]
Chr2:167133667 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3111T>C (p.Tyr1037=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794334] |
Chr2:166272639 [GRCh38]
Chr2:167129149 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5871A>G (p.Ser1957=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794340] |
Chr2:166198768 [GRCh38]
Chr2:167055278 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.617A>G (p.Asn206Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003790905] |
Chr2:166304309 [GRCh38]
Chr2:167160819 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4881A>T (p.Ala1627=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781885] |
Chr2:166199758 [GRCh38]
Chr2:167056268 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1789C>T (p.Arg597Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787427] |
Chr2:166284638 [GRCh38]
Chr2:167141148 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.2196A>G (p.Lys732=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003779428] |
Chr2:166280504 [GRCh38]
Chr2:167137014 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2104+8del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782097] |
Chr2:166281671 [GRCh38]
Chr2:167138181 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5769T>C (p.Asp1923=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783007] |
Chr2:166198870 [GRCh38]
Chr2:167055380 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5635C>G (p.Pro1879Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804485] |
Chr2:166199004 [GRCh38]
Chr2:167055514 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2061G>A (p.Gln687=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003794268] |
Chr2:166281722 [GRCh38]
Chr2:167138232 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.672T>C (p.Thr224=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780823] |
Chr2:166304254 [GRCh38]
Chr2:167160764 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3235T>C (p.Phe1079Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792417] |
Chr2:166272515 [GRCh38]
Chr2:167129025 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5701A>G (p.Arg1901Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782591] |
Chr2:166198938 [GRCh38]
Chr2:167055448 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.198T>C (p.Ile66=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787428] |
Chr2:166311559 [GRCh38]
Chr2:167168069 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2874+12G>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788602] |
Chr2:166276971 [GRCh38]
Chr2:167133481 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3839A>C (p.Tyr1280Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781278] |
Chr2:166233425 [GRCh38]
Chr2:167089935 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3498C>T (p.Cys1166=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791597] |
Chr2:166242631 [GRCh38]
Chr2:167099141 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.624C>G (p.Gly208=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003782055] |
Chr2:166304302 [GRCh38]
Chr2:167160812 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.573G>A (p.Leu191=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789464] |
Chr2:166305815 [GRCh38]
Chr2:167162325 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3608T>C (p.Leu1203Pro) |
single nucleotide variant |
not provided [RCV003491449] |
Chr2:166242521 [GRCh38]
Chr2:167099031 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2231C>A (p.Pro744His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783084] |
Chr2:166280469 [GRCh38]
Chr2:167136979 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3802-18A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787968] |
Chr2:166233480 [GRCh38]
Chr2:167089990 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1528A>T (p.Arg510Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003787682] |
Chr2:166286410 [GRCh38]
Chr2:167142920 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.279A>G (p.Lys93=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789345] |
Chr2:166307054 [GRCh38]
Chr2:167163564 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2105-19C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003783117] |
Chr2:166280614 [GRCh38]
Chr2:167137124 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3148C>T (p.His1050Tyr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003804156] |
Chr2:166272602 [GRCh38]
Chr2:167129112 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4399-15_4399-11del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781457] |
Chr2:166204475..166204479 [GRCh38]
Chr2:167060985..167060989 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1839G>A (p.Pro613=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780231] |
Chr2:166284588 [GRCh38]
Chr2:167141098 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2941G>T (p.Glu981Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003780983] |
Chr2:166272809 [GRCh38]
Chr2:167129319 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1955A>T (p.Lys652Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003791797] |
Chr2:166284472 [GRCh38]
Chr2:167140982 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.596+14G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003781515] |
Chr2:166305778 [GRCh38]
Chr2:167162288 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2374G>C (p.Val792Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788029] |
Chr2:166278283 [GRCh38]
Chr2:167134793 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2344-15_2344-13del |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003789583] |
Chr2:166278326..166278328 [GRCh38]
Chr2:167134836..167134838 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1828C>G (p.Pro610Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003792655] |
Chr2:166284599 [GRCh38]
Chr2:167141109 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.688+8G>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003793998] |
Chr2:166304230 [GRCh38]
Chr2:167160740 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2818G>C (p.Gly940Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788097] |
Chr2:166277039 [GRCh38]
Chr2:167133549 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.100G>A (p.Glu34Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003786790] |
Chr2:166311657 [GRCh38]
Chr2:167168167 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4944C>T (p.Gly1648=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003788255] |
Chr2:166199695 [GRCh38]
Chr2:167056205 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1540T>A (p.Phe514Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800942] |
Chr2:166286398 [GRCh38]
Chr2:167142908 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2874+9C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798818] |
Chr2:166276974 [GRCh38]
Chr2:167133484 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4270C>A (p.Gln1424Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812557] |
Chr2:166226695 [GRCh38]
Chr2:167083205 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5378C>A (p.Ala1793Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809118] |
Chr2:166199261 [GRCh38]
Chr2:167055771 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.814A>G (p.Lys272Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801050] |
Chr2:166303177 [GRCh38]
Chr2:167159687 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.320A>G (p.Tyr107Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812638] |
Chr2:166307013 [GRCh38]
Chr2:167163523 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5040T>A (p.Asn1680Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799977] |
Chr2:166199599 [GRCh38]
Chr2:167056109 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2092A>G (p.Asn698Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808073] |
Chr2:166281691 [GRCh38]
Chr2:167138201 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1444A>C (p.Lys482Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808050] |
Chr2:166286494 [GRCh38]
Chr2:167143004 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.948T>C (p.Gly316=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808092] |
Chr2:166294616 [GRCh38]
Chr2:167151126 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4950G>A (p.Leu1650=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809205] |
Chr2:166199689 [GRCh38]
Chr2:167056199 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3351+10C>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809278] |
Chr2:166272389 [GRCh38]
Chr2:167128899 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1343C>T (p.Thr448Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799111] |
Chr2:166286595 [GRCh38]
Chr2:167143105 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4504-27_4504-2dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809296] |
Chr2:166204226..166204227 [GRCh38]
Chr2:167060736..167060737 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4676C>A (p.Thr1559Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798016] |
Chr2:166204053 [GRCh38]
Chr2:167060563 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5616T>C (p.Pro1872=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003810464] |
Chr2:166199023 [GRCh38]
Chr2:167055533 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5473G>A (p.Ala1825Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799601] |
Chr2:166199166 [GRCh38]
Chr2:167055676 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3397C>A (p.Pro1133Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808706] |
Chr2:166251840 [GRCh38]
Chr2:167108350 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1712C>T (p.Ala571Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809791] |
Chr2:166284715 [GRCh38]
Chr2:167141225 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.355T>C (p.Ser119Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799619] |
Chr2:166306978 [GRCh38]
Chr2:167163488 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596+9T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800661] |
Chr2:166305783 [GRCh38]
Chr2:167162293 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5459A>C (p.Lys1820Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798578] |
Chr2:166199180 [GRCh38]
Chr2:167055690 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1076C>G (p.Thr359Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812460] |
Chr2:166293262 [GRCh38]
Chr2:167149772 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5939G>A (p.Gly1980Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808865] |
Chr2:166198700 [GRCh38]
Chr2:167055210 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.993G>T (p.Val331=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813609] |
Chr2:166293345 [GRCh38]
Chr2:167149855 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2343+13T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809926] |
Chr2:166280344 [GRCh38]
Chr2:167136854 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.197T>C (p.Ile66Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809947] |
Chr2:166311560 [GRCh38]
Chr2:167168070 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4774+13_4774+16del |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809944] |
Chr2:166203939..166203942 [GRCh38]
Chr2:167060449..167060452 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4774+12T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809945] |
Chr2:166203943 [GRCh38]
Chr2:167060453 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5392G>C (p.Glu1798Gln) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800886] |
Chr2:166199247 [GRCh38]
Chr2:167055757 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1931T>A (p.Leu644His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798352] |
Chr2:166284496 [GRCh38]
Chr2:167141006 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4903T>C (p.Phe1635Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801121] |
Chr2:166199736 [GRCh38]
Chr2:167056246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2953G>A (p.Ala985Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798427] |
Chr2:166272797 [GRCh38]
Chr2:167129307 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4788T>A (p.Ala1596=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003817803] |
Chr2:166199851 [GRCh38]
Chr2:167056361 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4024T>G (p.Leu1342Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801678] |
Chr2:166228873 [GRCh38]
Chr2:167085383 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.911A>G (p.Tyr304Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801848] |
Chr2:166294653 [GRCh38]
Chr2:167151163 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5917A>G (p.Arg1973Gly) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801989] |
Chr2:166198722 [GRCh38]
Chr2:167055232 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4126G>A (p.Val1376Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808093] |
Chr2:166228771 [GRCh38]
Chr2:167085281 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2227G>A (p.Asp743Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808563] |
Chr2:166280473 [GRCh38]
Chr2:167136983 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.597-3C>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808685] |
Chr2:166304332 [GRCh38]
Chr2:167160842 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2356A>G (p.Ile786Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801715] |
Chr2:166278301 [GRCh38]
Chr2:167134811 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5777T>C (p.Leu1926Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801722] |
Chr2:166198862 [GRCh38]
Chr2:167055372 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.965+14G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798562] |
Chr2:166294585 [GRCh38]
Chr2:167151095 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.828T>C (p.Phe276=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003810379] |
Chr2:166303163 [GRCh38]
Chr2:167159673 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5687T>C (p.Ile1896Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812480] |
Chr2:166198952 [GRCh38]
Chr2:167055462 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1009C>T (p.Pro337Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808267] |
Chr2:166293329 [GRCh38]
Chr2:167149839 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3077A>C (p.Gln1026Pro) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798670] |
Chr2:166272673 [GRCh38]
Chr2:167129183 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5309G>C (p.Ser1770Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003818061] |
Chr2:166199330 [GRCh38]
Chr2:167055840 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4261-17T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003818065] |
Chr2:166226721 [GRCh38]
Chr2:167083231 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1603-9T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800857] |
Chr2:166284833 [GRCh38]
Chr2:167141343 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.720G>T (p.Gln240His) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003818081] |
Chr2:166303271 [GRCh38]
Chr2:167159781 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1344_1345dup (p.Ser449fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003818083] |
Chr2:166286592..166286593 [GRCh38]
Chr2:167143102..167143103 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.378-6A>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003801945] |
Chr2:166306605 [GRCh38]
Chr2:167163115 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.72A>G (p.Glu24=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003808972] |
Chr2:166311685 [GRCh38]
Chr2:167168195 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2175T>A (p.Asn725Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798240] |
Chr2:166280525 [GRCh38]
Chr2:167137035 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4072C>T (p.Arg1358Trp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798277] |
Chr2:166228825 [GRCh38]
Chr2:167085335 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1928A>G (p.Gln643Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798280] |
Chr2:166284499 [GRCh38]
Chr2:167141009 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5520C>T (p.Asp1840=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798815] |
Chr2:166199119 [GRCh38]
Chr2:167055629 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4493C>T (p.Pro1498Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003818123] |
Chr2:166204370 [GRCh38]
Chr2:167060880 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2069T>C (p.Met690Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003810307] |
Chr2:166281714 [GRCh38]
Chr2:167138224 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2517+12C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812933] |
Chr2:166278128 [GRCh38]
Chr2:167134638 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5312C>T (p.Thr1771Ile) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798027] |
Chr2:166199327 [GRCh38]
Chr2:167055837 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5185G>A (p.Asp1729Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813605] |
Chr2:166199454 [GRCh38]
Chr2:167055964 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3430G>A (p.Glu1144Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813595] |
Chr2:166251807 [GRCh38]
Chr2:167108317 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5774A>T (p.Asp1925Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799504] |
Chr2:166198865 [GRCh38]
Chr2:167055375 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5232CAT[1] (p.Ile1746del) |
microsatellite |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815649] |
Chr2:166199402..166199404 [GRCh38]
Chr2:167055912..167055914 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.965+9T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799653] |
Chr2:166294590 [GRCh38]
Chr2:167151100 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1635T>C (p.Ser545=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813093] |
Chr2:166284792 [GRCh38]
Chr2:167141302 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3979G>T (p.Val1327Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815718] |
Chr2:166228918 [GRCh38]
Chr2:167085428 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3129T>G (p.Leu1043=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813255] |
Chr2:166272621 [GRCh38]
Chr2:167129131 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5401A>G (p.Lys1801Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815731] |
Chr2:166199238 [GRCh38]
Chr2:167055748 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1689T>A (p.Asp563Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800994] |
Chr2:166284738 [GRCh38]
Chr2:167141248 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1029C>T (p.Ser343=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003798830] |
Chr2:166293309 [GRCh38]
Chr2:167149819 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4887G>T (p.Gly1629=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003817687] |
Chr2:166199752 [GRCh38]
Chr2:167056262 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3131C>A (p.Ala1044Asp) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812317] |
Chr2:166272619 [GRCh38]
Chr2:167129129 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5763C>T (p.Asp1921=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812360] |
Chr2:166198876 [GRCh38]
Chr2:167055386 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4503+14T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815577] |
Chr2:166204346 [GRCh38]
Chr2:167060856 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2247A>C (p.Ala749=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815580] |
Chr2:166280453 [GRCh38]
Chr2:167136963 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1797C>A (p.Ser599Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003817769] |
Chr2:166284630 [GRCh38]
Chr2:167141140 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.641G>T (p.Arg214Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812702] |
Chr2:166304285 [GRCh38]
Chr2:167160795 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1861G>A (p.Ala621Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800518] |
Chr2:166284566 [GRCh38]
Chr2:167141076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5408C>T (p.Ser1803Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003810179] |
Chr2:166199231 [GRCh38]
Chr2:167055741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1118_1119delinsGC (p.Ala373Gly) |
indel |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799998] |
Chr2:166288632..166288633 [GRCh38]
Chr2:167145142..167145143 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.966-11C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799568] |
Chr2:166293383 [GRCh38]
Chr2:167149893 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4929G>A (p.Ala1643=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799128] |
Chr2:166199710 [GRCh38]
Chr2:167056220 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3736_3739dup (p.Ala1247fs) |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003799149] |
Chr2:166238155..166238156 [GRCh38]
Chr2:167094665..167094666 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.543C>T (p.Phe181=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800761] |
Chr2:166305845 [GRCh38]
Chr2:167162355 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5566A>G (p.Met1856Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812368] |
Chr2:166199073 [GRCh38]
Chr2:167055583 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3386C>G (p.Thr1129Arg) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003812466] |
Chr2:166251851 [GRCh38]
Chr2:167108361 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3884del (p.Ala1294_Leu1295insTer) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815514] |
Chr2:166233380 [GRCh38]
Chr2:167089890 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.5196C>G (p.Asn1732Lys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813201] |
Chr2:166199443 [GRCh38]
Chr2:167055953 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1047G>C (p.Trp349Cys) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813338] |
Chr2:166293291 [GRCh38]
Chr2:167149801 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4503+15A>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003800468] |
Chr2:166204345 [GRCh38]
Chr2:167060855 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4911G>A (p.Leu1637=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813296] |
Chr2:166199728 [GRCh38]
Chr2:167056238 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.2343+16T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813341] |
Chr2:166280341 [GRCh38]
Chr2:167136851 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3581T>C (p.Phe1194Ser) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003809727] |
Chr2:166242548 [GRCh38]
Chr2:167099058 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3724C>G (p.Leu1242Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003813432] |
Chr2:166238171 [GRCh38]
Chr2:167094681 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4877G>A (p.Gly1626Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003815398] |
Chr2:166199762 [GRCh38]
Chr2:167056272 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.689-15T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803629] |
Chr2:166303317 [GRCh38]
Chr2:167159827 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1314+1G>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803479] |
Chr2:166288436 [GRCh38]
Chr2:167144946 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001365536.1(SCN9A):c.2875-12A>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802463] |
Chr2:166272887 [GRCh38]
Chr2:167129397 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3461G>T (p.Cys1154Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802088] |
Chr2:166251776 [GRCh38]
Chr2:167108286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1140C>G (p.Ile380Met) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803271] |
Chr2:166288611 [GRCh38]
Chr2:167145121 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.596+10T>G |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802069] |
Chr2:166305782 [GRCh38]
Chr2:167162292 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4338C>T (p.Phe1446=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803925] |
Chr2:166226627 [GRCh38]
Chr2:167083137 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.4334C>T (p.Ser1445Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803940] |
Chr2:166226631 [GRCh38]
Chr2:167083141 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4206+2dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803958] |
Chr2:166228688..166228689 [GRCh38]
Chr2:167085198..167085199 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4838G>T (p.Arg1613Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803404] |
Chr2:166199801 [GRCh38]
Chr2:167056311 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.902-6C>T |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802064] |
Chr2:166294668 [GRCh38]
Chr2:167151178 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3045C>T (p.Ser1015=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803095] |
Chr2:166272705 [GRCh38]
Chr2:167129215 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 |
copy number loss |
not specified [RCV003986346] |
Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1 |
pathogenic |
| NM_001365536.1(SCN9A):c.5413T>C (p.Phe1805Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803563] |
Chr2:166199226 [GRCh38]
Chr2:167055736 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1 |
copy number loss |
not specified [RCV003986391] |
Chr2:165813403..169865235 [GRCh37]
Chr2:2q24.3-31.1 |
pathogenic |
| NM_001365536.1(SCN9A):c.689-17T>C |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802385] |
Chr2:166303319 [GRCh38]
Chr2:167159829 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1513T>G (p.Ser505Ala) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803002] |
Chr2:166286425 [GRCh38]
Chr2:167142935 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.2737T>C (p.Phe913Leu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803195] |
Chr2:166277120 [GRCh38]
Chr2:167133630 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.667A>G (p.Lys223Glu) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802306] |
Chr2:166304259 [GRCh38]
Chr2:167160769 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4261-15T>A |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802053] |
Chr2:166226719 [GRCh38]
Chr2:167083229 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.5389A>G (p.Ile1797Val) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003803382] |
Chr2:166199250 [GRCh38]
Chr2:167055760 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.5440C>T (p.Leu1814Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802372] |
Chr2:166199199 [GRCh38]
Chr2:167055709 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3996G>A (p.Trp1332Ter) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003802906] |
Chr2:166228901 [GRCh38]
Chr2:167085411 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1415G>T (p.Ser472Ile) |
single nucleotide variant |
not specified [RCV003988301] |
Chr2:166286523 [GRCh38]
Chr2:167143033 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.3536G>A (p.Trp1179Ter) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV003988766] |
Chr2:166242593 [GRCh38]
Chr2:167099103 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.1974+9G>A |
single nucleotide variant |
SCN9A-related condition [RCV003931997] |
Chr2:166284444 [GRCh38]
Chr2:167140954 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.684C>T (p.Ile228=) |
single nucleotide variant |
SCN9A-related condition [RCV003983473] |
Chr2:166304242 [GRCh38]
Chr2:167160752 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.3180T>C (p.Ser1060=) |
single nucleotide variant |
SCN9A-related condition [RCV003983507] |
Chr2:166272570 [GRCh38]
Chr2:167129080 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1974+9_1974+15del |
deletion |
SCN9A-related condition [RCV003959286] |
Chr2:166284438..166284444 [GRCh38]
Chr2:167140948..167140954 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.1462C>T (p.Leu488Phe) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002815549] |
Chr2:166286476 [GRCh38]
Chr2:167142986 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV000290806]|Generalized epilepsy with febrile seizures plus, type 7 [RCV001332206]|Inborn genetic diseases [RCV002399622]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV000468717]|Paroxysmal extreme pain disorder [RCV000388718]|Primary erythromelalgia [RCV000348148]|Seizure [RCV000781948]|Small fiber neuropathy [RCV000277449]|not provided [RCV000723961] |
Chr2:166286383 [GRCh38]
Chr2:167142893 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381568]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001084151]|not provided [RCV000724887]|not specified [RCV000242152] |
Chr2:166286612 [GRCh38]
Chr2:167143122 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365536.1(SCN9A):c.5403A>T (p.Lys1801Asn) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000541499] |
Chr2:166199236 [GRCh38]
Chr2:167055746 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:167149203-167158736)x1 |
copy number loss |
not provided [RCV000740686] |
Chr2:167149203..167158736 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:167153789-167158736)x1 |
copy number loss |
not provided [RCV000740687] |
Chr2:167153789..167158736 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:167155131-167158685)x1 |
copy number loss |
not provided [RCV000740688] |
Chr2:167155131..167158685 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:167156282-167158736)x1 |
copy number loss |
not provided [RCV000740689] |
Chr2:167156282..167158736 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 7 [RCV000785869]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001216997] |
Chr2:166284583 [GRCh38]
Chr2:167141093 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.1129del (p.Thr377fs) |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV000806666] |
Chr2:166288622 [GRCh38]
Chr2:167145132 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) |
single nucleotide variant |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive [RCV001134712]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001214418]|Paroxysmal extreme pain disorder [RCV001134711]|Primary erythromelalgia [RCV001134710] |
Chr2:166293358 [GRCh38]
Chr2:167149868 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001365536.1(SCN9A):c.2595T>A (p.Ala865=) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV001439509] |
Chr2:166277262 [GRCh38]
Chr2:167133772 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001365536.1(SCN9A):c.713T>C (p.Leu238Ser) |
single nucleotide variant |
not provided [RCV001757273] |
Chr2:166303278 [GRCh38]
Chr2:167159788 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001365536.1(SCN9A):c.4277A>C (p.Lys1426Thr) |
single nucleotide variant |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV002022034] |
Chr2:166226688 [GRCh38]
Chr2:167083198 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
