MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:9583
Name:Paroxysmal Extreme Pain Disorder
Definition:
Alternative IDs:OMIM:167400
ParentIDs:MESH:D010146
TreeNumbers:C23.888.592.612/C563475
Synonyms:Familial Rectal Pain |PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING |Pain, Submandibular, Ocular, wnd Rectal, with Flushing |PEPD |PEXPD |Rectal Pain, Familial |Submandibular, Ocular, and Rectal Pain with Flushing
Slim Mappings:Signs and symptoms
Reference: MedGen: C563475
MeSH: C563475
OMIM: 167400;
MSeqDR LSDB:  
Genes: SCN9A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003623Neonatal onset
3 HP:0500005Anal pain
4 HP:0001662Bradycardia
5 HP:0007328Impaired pain sensation
6 HP:0000632Lacrimation abnormality
7 HP:0200025Mandibular pain
8 HP:0200026Ocular pain
9 HP:0001649Tachycardia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005896.4(IDH1):c.890G>T (p.Cys297Phe)3417IDH1Likely pathogenic-1RCV001647346; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482209104688209104688CA209104688-
NM_001365536.1(SCN9A):c.*3426A>T6335SCN9AConflicting interpretations of pathogenicityrs186838828RCV000273901|RCV000324427|RCV000328915|RCV000368490; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN2394382167051756167051756TA2:g.167051756T>AClinGen:CA10611582C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*3317A>G6335SCN9ABenign/Likely benignrs191667986RCV000281153|RCV000284604|RCV000320914|RCV000372279; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167051865167051865TC2:g.167051865T>CClinGen:CA10612760C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*3282A>C6335SCN9AUncertain significancers139483482RCV000307555|RCV000311113|RCV000347160|RCV000399316; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167051900167051900TG2:g.167051900T>GClinGen:CA10611203C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*3204G>A6335SCN9AUncertain significancers201300071RCV001134929|RCV001134930|RCV001134928; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167051978167051978CT2:g.167051978C>T-
NM_001365536.1(SCN9A):c.*3202T>C6335SCN9AUncertain significancers1015184575RCV001129908|RCV001129907|RCV001129909; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167051980167051980AG2:g.167051980A>G-
NM_001365536.1(SCN9A):c.*3102C>T6335SCN9AConflicting interpretations of pathogenicityrs182687583RCV000261410|RCV000304979|RCV000320220|RCV000359735; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167052080167052080GA2:g.167052080G>AClinGen:CA10611204C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*3094A>G6335SCN9AUncertain significancers1433503694RCV001129910|RCV001129911|RCV001130612; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052088167052088TC2:g.167052088T>C-
NM_001365536.1(SCN9A):c.*3053G>A6335SCN9AUncertain significancers199656729RCV001130613|RCV001130614|RCV001130615; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052129167052129CT2:g.167052129C>T-
NM_001365536.1(SCN9A):c.*3038C>T6335SCN9ABenign/Likely benignrs115766730RCV000346675|RCV000295071|RCV000385957|RCV000389431; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN2394382167052144167052144GA2:g.167052144G>AClinGen:CA10611205C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2986T>G6335SCN9AUncertain significancers201730339RCV000341523|RCV000261600|RCV000301676|RCV000356580; NMedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167052196167052196AC2:g.167052196A>CClinGen:CA10611584C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2945C>A6335SCN9AUncertain significancers1693226507RCV001133561|RCV001133562|RCV001133560; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052237167052237GT2:g.167052237G>T-
NM_001365536.1(SCN9A):c.*2928G>A6335SCN9AUncertain significancers199559478RCV000273689|RCV000276973|RCV000328701|RCV000386926; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167052254167052254CT2:g.167052254C>TClinGen:CA10611209C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2860C>T6335SCN9AUncertain significancers200963393RCV000340690|RCV000383549|RCV000397721|RCV000380022; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052322167052322GA2:g.167052322G>AClinGen:CA10612762C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2854T>C6335SCN9ABenignrs73017538RCV000311164|RCV000298332|RCV000337355|RCV000401648; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167052328167052328AGNC_000002.11:g.167052328A>GClinGen:CA10611585C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2744del6335SCN9AUncertain significancers763459885RCV000269917|RCV000328465|RCV000362135|RCV000322694|RCV000271243|RCV000377051|RCV000368073; NMedGen:C3276706|MedGen:C0002768|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MONDO:MONDO:0018214,MedGen:C32167052438167052438AGANC_000002.11:g.167052438delClinGen:CA10612499C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2729C>A6335SCN9AUncertain significancers1313840276RCV001130028|RCV001135050|RCV001135049; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052453167052453GT2:g.167052453G>T-
NM_001365536.1(SCN9A):c.*2721C>G6335SCN9ABenign/Likely benignrs199595958RCV000284860|RCV000279132|RCV000336598|RCV000395211; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C32767062167052461167052461GCNC_000002.11:g.167052461G>CClinGen:CA10611216C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2677T>C6335SCN9AUncertain significancers1472041217RCV001130029|RCV001130030|RCV001130031; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167052505167052505AG2:g.167052505A>G-
NM_001365536.1(SCN9A):c.*2662G>A6335SCN9ABenign/Likely benignrs149873320RCV000348882|RCV000366288|RCV000308394|RCV000395215; NMedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167052520167052520CTNC_000002.11:g.167052520C>TClinGen:CA10611586C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2640G>A6335SCN9ABenignrs13396526RCV000319290|RCV000320479|RCV000358944|RCV000371449; NMedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167052542167052542CTNC_000002.11:g.167052542C>TClinGen:CA10612500C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2616_*2626del6335SCN9ABenignrs145255931RCV000344114|RCV000291307|RCV000292544|RCV000349801|RCV000331992|RCV000383338|RCV000388899; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387|MedGen:C3276706|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS1212167052556167052566CTTAAAAAAGTTCNC_000002.11:g.167052558_167052568delClinGen:CA10611221C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2540C>T6335SCN9ABenignrs58249489RCV000357066|RCV000304471|RCV000393187|RCV000400219; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052642167052642GANC_000002.11:g.167052642G>AClinGen:CA10611225C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2344C>T6335SCN9AConflicting interpretations of pathogenicityrs200962814RCV000277176|RCV000328652|RCV000369481|RCV000386663; NMedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052838167052838GANC_000002.11:g.167052838G>AClinGen:CA10612763C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2323G>T6335SCN9ABenign/Likely benignrs142172527RCV000341064|RCV000288613|RCV000379593|RCV000399016; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052859167052859CANC_000002.11:g.167052859C>AClinGen:CA10611591C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2312A>T6335SCN9ABenign/Likely benignrs185580193RCV000312641|RCV000301270|RCV000371364|RCV000400656; NMedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167052870167052870TANC_000002.11:g.167052870T>AClinGen:CA10612766C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2297A>T6335SCN9ABenignrs75345520RCV000267308|RCV000325935|RCV000324675|RCV000376947; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052885167052885TANC_000002.11:g.167052885T>AClinGen:CA10611594C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2228G>T6335SCN9AConflicting interpretations of pathogenicityrs200790957RCV000280565|RCV000350580|RCV000371700|RCV000396045; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052954167052954CANC_000002.11:g.167052954C>AClinGen:CA10612767C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2226T>G6335SCN9AConflicting interpretations of pathogenicityrs141310425RCV000304360|RCV000310155|RCV000349576|RCV000362401; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167052956167052956ACNC_000002.11:g.167052956A>CClinGen:CA10612501C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2222T>C6335SCN9AUncertain significancers199958892RCV000259724|RCV000293690|RCV000264461|RCV000374165; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN2394382167052960167052960AGNC_000002.11:g.167052960A>GClinGen:CA10612508C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2212T>C6335SCN9ABenign/Likely benignrs200750861RCV000344969|RCV000346169|RCV000294861|RCV000330013; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167052970167052970AGNC_000002.11:g.167052970A>GClinGen:CA10611226C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2191G>A6335SCN9AConflicting interpretations of pathogenicityrs201184093RCV000342600|RCV000357374|RCV000394741|RCV000398622; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167052991167052991CTNC_000002.11:g.167052991C>TClinGen:CA10612768C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2155G>A6335SCN9ABenign/Likely benignrs77565541RCV000313073|RCV000329498|RCV000277964|RCV000367797; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167053027167053027CTNC_000002.11:g.167053027C>TClinGen:CA10611595C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2154C>G6335SCN9ABenignrs17804037RCV000284995|RCV000339869|RCV000286111|RCV000336414; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C32767062167053028167053028GCNC_000002.11:g.167053028G>CClinGen:CA10612769C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2146G>C6335SCN9ABenignrs1062844RCV000275838|RCV000307597|RCV000311197|RCV000300570; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN2394382167053036167053036CGNC_000002.11:g.167053036C>GClinGen:CA10612509C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2136C>G6335SCN9ABenignrs77050817RCV000272494|RCV000362498|RCV000324264|RCV000378866; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167053046167053046GCNC_000002.11:g.167053046G>CClinGen:CA10612774C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*2078C>T6335SCN9AConflicting interpretations of pathogenicityrs548072061RCV000279794|RCV000294797|RCV000338316|RCV000402971; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C32767062167053104167053104GANC_000002.11:g.167053104G>AClinGen:CA10612775C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1960_*1962dup6335SCN9ALikely benignrs202073550RCV000309914|RCV000345173|RCV000364626|RCV000301570|RCV000361186|RCV000399974|RCV000397034; NMedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C0002768|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MedGen:C3276706|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MONDO:MONDO:0018214,MedGen:C32167053219167053220CCCAANC_000002.11:g.167053222_167053224dupClinGen:CA10611596C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1815T>C6335SCN9AUncertain significancers202203220RCV001135333|RCV001135334|RCV001135335; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167053367167053367AG2:g.167053367A>G-
NM_001365536.1(SCN9A):c.*1796C>T6335SCN9ABenignrs16851751RCV000266558|RCV000263670|RCV000316954|RCV000318792; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167053386167053386GANC_000002.11:g.167053386G>AClinGen:CA10611227C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1774G>A6335SCN9ABenignrs114843828RCV000289218|RCV000334156|RCV000404015|RCV000388679; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167053408167053408CTNC_000002.11:g.167053408C>TClinGen:CA10611597C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1770A>C6335SCN9AUncertain significancers200353065RCV000297830|RCV000306019|RCV000274588|RCV000394677; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167053412167053412TGNC_000002.11:g.167053412T>GClinGen:CA10612512C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1735C>A6335SCN9AUncertain significancers1693263246RCV001130291|RCV001130290|RCV001131002; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167053447167053447GT2:g.167053447G>T-
NM_001365536.1(SCN9A):c.*1660G>A6335SCN9ABenignrs16851753RCV000291186|RCV000329620|RCV000327593|RCV000380829; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C32767062167053522167053522CTNC_000002.11:g.167053522C>TClinGen:CA10611604C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1643T>C6335SCN9AUncertain significancers1693265771RCV001131003|RCV001131004|RCV001131005; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167053539167053539AG2:g.167053539A>G-
NM_001365536.1(SCN9A):c.*1605T>C6335SCN9AUncertain significancers199848927RCV000272305|RCV000324018|RCV000320323|RCV000266349; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167053577167053577AGNC_000002.11:g.167053577A>GClinGen:CA10612777C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1605del6335SCN9ABenignrs148459420RCV000313771|RCV000268985|RCV000300920|RCV000397647; NMedGen:C0002768|MedGen:C3276706|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167053577167053577TATNC_000002.11:g.167053577delClinGen:CA10612778C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1492C>G6335SCN9ABenignrs73017542RCV000306954|RCV000279508|RCV000351500|RCV000386213; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167053690167053690GCNC_000002.11:g.167053690G>CClinGen:CA10612779C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1434dup6335SCN9ALikely benignrs199505193RCV000305048|RCV000310372|RCV000345421|RCV000358620; NMedGen:C0002768|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C32767062167053747167053748GGANC_000002.11:g.167053754dupClinGen:CA10612783C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1422T>C6335SCN9AUncertain significancers1693272137RCV001133954|RCV001133955|RCV001133953; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167053760167053760AG2:g.167053760A>G-
NM_001365536.1(SCN9A):c.*1417A>G6335SCN9AUncertain significancers201120940RCV001135467|RCV001135468|RCV001135466; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167053765167053765TC2:g.167053765T>C-
NM_001365536.1(SCN9A):c.*1383G>T6335SCN9AUncertain significancers896976419RCV001135469|RCV001135470|RCV001135471; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167053799167053799CA2:g.167053799C>A-
NM_001365536.1(SCN9A):c.*1357C>T6335SCN9AUncertain significancers200338267RCV000260099|RCV000317706|RCV000294479|RCV000374662; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167053825167053825GANC_000002.11:g.167053825G>AClinGen:CA10611607C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1184T>G6335SCN9ABenignrs11902920RCV000283027|RCV000288745|RCV000333168|RCV000380899; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167053998167053998ACNC_000002.11:g.167053998A>CClinGen:CA10612517C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1118_*1119insCA6335SCN9ABenignrs140616949RCV000305824|RCV000274983|RCV000353605|RCV000357016; NMedGen:C3276706|MedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN2394382167054063167054064TTTGNC_000002.11:g.167054063_167054064insTGClinGen:CA10612786C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1014G>A6335SCN9AConflicting interpretations of pathogenicityrs200393413RCV000291451|RCV000326355|RCV000332342|RCV000370774; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054168167054168CTNC_000002.11:g.167054168C>TClinGen:CA10611608C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*1013C>T6335SCN9ABenignrs16851754RCV000279403|RCV000342424|RCV000377310|RCV000404321; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167054169167054169GANC_000002.11:g.167054169G>AClinGen:CA10611612C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*958C>T6335SCN9ABenign/Likely benignrs143727895RCV000311196|RCV000315200|RCV000368823|RCV000327960; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167054224167054224GANC_000002.11:g.167054224G>AClinGen:CA10611619C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*948G>A6335SCN9AUncertain significancers201415802RCV000264600|RCV000316755|RCV000268608|RCV000322461; NMedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054234167054234CT2:g.167054234C>TClinGen:CA10611229C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*920T>A6335SCN9ABenign/Likely benignrs201424899RCV000281473|RCV000307487|RCV000351833|RCV000386300; NMedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054262167054262AT2:g.167054262A>TClinGen:CA10611621C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*900T>C6335SCN9AUncertain significancers200829562RCV001134082|RCV001134083|RCV001134084; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054282167054282AG2:g.167054282A>G-
NM_001365536.1(SCN9A):c.*887T>C6335SCN9AUncertain significancers200611007RCV001134086|RCV001134085|RCV001135589; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054295167054295AG2:g.167054295A>G-
NM_001365536.1(SCN9A):c.*835C>A6335SCN9AUncertain significancers199955941RCV001135590|RCV001135592|RCV001135591; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054347167054347GT2:g.167054347G>T-
NM_001365536.1(SCN9A):c.*798dup6335SCN9ABenignrs564394161RCV000261231|RCV000297667|RCV000301763|RCV000361680|RCV000358954|RCV000346098|RCV000396968; NMedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C0002768|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MedGen:C3276706|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MONDO:MONDO:0018214,MedGen:C32167054383167054384GGT2:g.167054383_167054384insTClinGen:CA10611622C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*785C>T6335SCN9AConflicting interpretations of pathogenicityrs181229506RCV000272894|RCV000287909|RCV000327929|RCV000382306; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C32767062167054397167054397GA2:g.167054397G>AClinGen:CA10612518C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*771_*772dup6335SCN9ABenignrs144515054RCV000348745|RCV000293873|RCV000299664|RCV000403917; NMedGen:CN239438|MedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C32767062167054409167054410CCTT2:g.167054409_167054410insTTClinGen:CA10612519C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*669A>G6335SCN9AConflicting interpretations of pathogenicityrs538508619RCV000271307|RCV000301733|RCV000365812|RCV000390545; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054513167054513TC2:g.167054513T>CClinGen:CA10612787C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*529_*530del6335SCN9ABenignrs140024416RCV000276422|RCV000325731|RCV000331548|RCV000385940; NMedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C0002768|MedGen:C32767062167054652167054653TAGT2:g.167054652_167054653delClinGen:CA10611623C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*491del6335SCN9AUncertain significancers886055047RCV000284797|RCV000340056|RCV000279059|RCV000343463|RCV000373230|RCV000405702|RCV000403273; NMONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MedGen:C3276706|MedGen:C0002768|MONDO:MONDO:0018214,MedGen:C32167054691167054691TAT2:g.167054691_167054691delClinGen:CA10611627C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*416dup6335SCN9ABenignrs3834910RCV000274625|RCV000329739|RCV000364317|RCV000398126; NMedGen:CN239438|MedGen:C0002768|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054765167054766CCANC_000002.11:g.167054768dupClinGen:CA10612791C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*410A>T6335SCN9AUncertain significancers200153085RCV001130512|RCV001130513|RCV001130514; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054772167054772TA2:g.167054772T>A-
NM_001365536.1(SCN9A):c.*408A>G6335SCN9AUncertain significancers201291538RCV001130517|RCV001130516|RCV001130515; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167054774167054774TC2:g.167054774T>C-
NM_001365536.1(SCN9A):c.*377C>G6335SCN9ABenign/Likely benignrs115464654RCV000287117|RCV000317648|RCV000323289|RCV000372268; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054805167054805GCNC_000002.11:g.167054805G>CClinGen:CA10612520C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*362C>T6335SCN9ABenign/Likely benignrs185832567RCV001131239|RCV001131240|RCV001131241; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054820167054820GA2:g.167054820G>A-
NM_001365536.1(SCN9A):c.*244_*247dup6335SCN9ABenignrs143461219RCV000283356|RCV000289285|RCV000352131|RCV000406754; NMedGen:C0002768|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN2394382167054934167054935GGAATCNC_000002.11:g.167054936_167054939dupClinGen:CA10611235C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*237C>G6335SCN9ABenignrs16851755RCV000354513|RCV000305126|RCV000367053|RCV000397107; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167054945167054945GCNC_000002.11:g.167054945G>CClinGen:CA10612522C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*237C>T6335SCN9AUncertain significancers16851755RCV001131243|RCV001131242|RCV001134209; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167054945167054945GA2:g.167054945G>A-
NM_001365536.1(SCN9A):c.*235T>C6335SCN9ABenign/Likely benignrs140553451RCV000326375|RCV000271371|RCV000380985|RCV000384302; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054947167054947AGNC_000002.11:g.167054947A>GClinGen:CA10612793C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*226A>C6335SCN9AUncertain significancers886055048RCV000338385|RCV000351399|RCV000298681|RCV000405091; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167054956167054956TGNC_000002.11:g.167054956T>GClinGen:CA10612523C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*217G>A6335SCN9AConflicting interpretations of pathogenicityrs200625860RCV000264874|RCV000270973|RCV000304876|RCV000310836; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167054965167054965CTNC_000002.11:g.167054965C>TClinGen:CA10612794C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*204G>A6335SCN9ABenign/Likely benignrs111510277RCV000274558|RCV000326020|RCV000335227|RCV000387665; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167054978167054978CTNC_000002.11:g.167054978C>TClinGen:CA10611628C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*165_*167dup6335SCN9AUncertain significancers886055049RCV000343213|RCV000286011|RCV000346695|RCV000303556|RCV000373492|RCV000404787|RCV000405664; NMedGen:C0002768|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387|MedGen:C3276706|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:002167055014167055015CCCATNC_000002.11:g.167055016_167055018dupClinGen:CA10611644C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*164G>A6335SCN9AUncertain significancers1158330162RCV001128713|RCV001128712|RCV001128714; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167055018167055018CT2:g.167055018C>T-
NM_001365536.1(SCN9A):c.*159T>C6335SCN9AUncertain significancers201133173RCV001128715|RCV001128716|RCV001128717; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167055023167055023AG2:g.167055023A>G-
NM_001365536.1(SCN9A):c.*129C>T6335SCN9ABenignrs16851759RCV000306861|RCV000274793|RCV000314833|RCV000363911; NMedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167055053167055053GANC_000002.11:g.167055053G>AClinGen:CA10612525C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*125C>T6335SCN9ABenign/Likely benignrs200465050RCV000286282|RCV000320298|RCV000377270|RCV000378872; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167055057167055057GANC_000002.11:g.167055057G>AClinGen:CA10611239C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*124A>G6335SCN9AConflicting interpretations of pathogenicityrs201137748RCV000290226|RCV000288897|RCV000312811|RCV000347485; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167055058167055058TCNC_000002.11:g.167055058T>CClinGen:CA10611647C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.*18A>G6335SCN9ABenign/Likely benignrs150401869RCV000354679|RCV000358522|RCV000324549|RCV000403477; NMedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167055164167055164TCNC_000002.11:g.167055164T>CClinGen:CA1943585C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)6335SCN9AConflicting interpretations of pathogenicityrs199822303RCV000800311|RCV001134340|RCV001134341|RCV001134342|RCV001508456; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Or2167055204167055204TA2:g.167055204T>A-
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)6335SCN9ABenign/Likely benignrs111558968RCV000176734|RCV000266158|RCV000288513|RCV000327080|RCV000385041|RCV000442067|RCV001082772; NMedGen:CN169374|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|Med2167055370167055370GA2:g.167055370G>AClinGen:CA202084C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)6335SCN9ABenignrs3750904RCV000080041|RCV000299018|RCV000348238|RCV000406081|RCV000407719|RCV000469934; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MON2167055393167055393TC2:g.167055393T>CClinGen:CA147609C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)6335SCN9AConflicting interpretations of pathogenicityrs79805025RCV000222397|RCV000270670|RCV000271832|RCV000359398|RCV000390843|RCV000514151|RCV001080948; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|Med2167055438167055438CT2:g.167055438C>TClinGen:CA1943628C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His)6335SCN9AUncertain significancers199705100RCV001128824|RCV001128825|RCV001128823|RCV001232710; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0024309,MedGen:C27520892167055606167055606CT2:g.167055606C>T-
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)6335SCN9AConflicting interpretations of pathogenicityrs201875421RCV000318343|RCV000332706|RCV000335912|RCV000389535|RCV001428717; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:00243092167055770167055770CTNC_000002.11:g.167055770C>TClinGen:CA1943686C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)6335SCN9AConflicting interpretations of pathogenicityrs372210358RCV001131477|RCV001128826|RCV001131478; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167055902167055902CG2:g.167055902C>G-
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu)6335SCN9APathogenicrs879253994RCV000235255|RCV000500437; NMedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167056221167056221GT2:g.167056221G>TClinGen:CA10584162CN517202 not provided;
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro)6335SCN9ALikely pathogenicrs1131691776RCV000493039|RCV000656134; NMedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167056281167056281AG2:g.167056281A>GClinGen:CA349055343CN517202 not provided;
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)6335SCN9ABenignrs149207258RCV000118308|RCV000309081|RCV000347548|RCV000405619|RCV000391322|RCV000713174|RCV001511350; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|Med2167056337167056337CA2:g.167056337C>AClinGen:CA155136C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr)6335SCN9AUncertain significancers754401649RCV001056658|RCV001535457; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348; MONDO2167056371167056371AG2:g.167056371A>G-
NM_001365536.1(SCN9A):c.4774+16T>A6335SCN9ABenignrs10180721RCV000242590|RCV001709540|RCV001807161|RCV001807159|RCV001807160|RCV002058130; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MON2167060449167060449ATNC_000002.11:g.167060449A>TClinGen:CA1943793CN169374 not specified;
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)6335SCN9AConflicting interpretations of pathogenicityrs202084411RCV000219331|RCV000307783|RCV000415823|RCV001134461|RCV001086552|RCV001134462; NMedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013472167060594167060594AGNC_000002.11:g.167060594A>GClinGen:CA1943813C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.4503+8_4503+9insT6335SCN9AConflicting interpretations of pathogenicityrs767624579RCV000262360|RCV000277287|RCV000311295|RCV000319882|RCV000369517|RCV000372277|RCV000368712|RCV000647819; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387|MedGen:C3276706|MedGen:C0002768|MedGen:CN239438|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MONDO:MONDO:0100135,MedGen:2167060861167060862TTANC_000002.11:g.167060861_167060862insAClinGen:CA1943848C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)6335SCN9AConflicting interpretations of pathogenicityrs187558439RCV000261220|RCV000283499|RCV000291970|RCV000383965|RCV000728379|RCV001421504; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN517202|MON2167060878167060878GTNC_000002.11:g.167060878G>TClinGen:CA1943856C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His)6335SCN9AUncertain significancers1693696549RCV001134463|RCV001134464|RCV001135932; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167060932167060932AG2:g.167060932A>G-
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del)6335SCN9AUncertain significancers886055050RCV000344529|RCV000352792|RCV000295569|RCV000353982|RCV000299172|RCV000404016|RCV000391544; NMedGen:CN239438|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387|MedGen:C0002768|MedGen:C3276706|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0100135,MedGen:2167060934167060936TTTCTNC_000002.11:g.167060935TCT[1]ClinGen:CA10612802C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile)6335SCN9APathogenicrs121908915RCV000006733; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167060949167060949GA2:g.167060949G>AClinGen:CA118155,OMIM:603415.0013C1833661 167400 Paroxysmal extreme pain disorder;
NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val)6335SCN9APathogenicrs1553474394RCV000656132; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167060956167060956AC2:g.167060956A>CClinGen:CA349058409C1833661 167400 Paroxysmal extreme pain disorder;
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr)6335SCN9APathogenicrs121908914RCV000006732; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167060958167060958AG2:g.167060958A>GOMIM:603415.0012,ClinGen:CA118152C1833661 167400 Paroxysmal extreme pain disorder;
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn)6335SCN9APathogenicrs121908914RCV000656133; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167060958167060958AT2:g.167060958A>TClinGen:CA349058419C1833661 167400 Paroxysmal extreme pain disorder;
NM_001365536.1(SCN9A):c.4399-10_4399-7del6335SCN9ABenignrs77944059RCV000153913|RCV000264835|RCV000359605|RCV000360774|RCV000405665|RCV000713172|RCV001513086|RCV001807104|RCV001807103; NMedGen:CN169374|MedGen:CN239438|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C0002768|MedGen:CN517202|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:2013002167060981167060984GAAACG2:g.167060981_167060984delClinGen:CA180415C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4399-14G>T6335SCN9ABenign/Likely benignrs112927502RCV000242065|RCV000296393|RCV000325659|RCV000386082|RCV000351334|RCV002058128; NMedGen:CN169374|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MON2167060988167060988CANC_000002.11:g.167060988C>AClinGen:CA1943876C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)6335SCN9ABenign/Likely benignrs149346064RCV000303154|RCV000338178|RCV000357979|RCV000391816|RCV000366144|RCV000762060|RCV001081992; NMedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN169374|Med2167083160167083160CT2:g.167083160C>TClinGen:CA1943896C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)6335SCN9AConflicting interpretations of pathogenicityrs188336294RCV000245570|RCV000274820|RCV000269220|RCV000329912|RCV000363811|RCV000724788|RCV001084236; NMedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|Med2167083161167083161GA2:g.167083161G>AClinGen:CA242438C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)6335SCN9AUncertain significancers1413202256RCV001062488|RCV001535657; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348; MONDO2167085279167085279AG2:g.167085279A>G-
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys)6335SCN9AUncertain significancers866428752RCV001128933|RCV001128934|RCV001128935|RCV001856680; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C27520892167085308167085308GA2:g.167085308G>A-
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)6335SCN9AConflicting interpretations of pathogenicityrs202235611RCV000276112|RCV000340680|RCV000376885|RCV000375646|RCV000412791|RCV000647772|RCV001001973; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN517202|MON2167085463167085463AG2:g.167085463A>GClinGen:CA1943972C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe)6335SCN9APathogenicrs121908913RCV000006731|RCV000691966|RCV001090456; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167085479167085479CA2:g.167085479C>AClinGen:CA118149,OMIM:603415.0011C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)6335SCN9APathogenicrs121908911RCV000006729; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167085481167085481AT2:g.167085481A>TClinGen:CA118143,OMIM:603415.0009C1833661 167400 Paroxysmal extreme pain disorder;
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe)6335SCN9APathogenicrs121908912RCV000006730; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167085482167085482CA2:g.167085482C>AClinGen:CA118146,OMIM:603415.0010C1833661 167400 Paroxysmal extreme pain disorder;
NM_001365536.1(SCN9A):c.3925-13T>C6335SCN9AUncertain significancers886055051RCV000341978|RCV000287096|RCV000347951|RCV000406343; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167085495167085495AGNC_000002.11:g.167085495A>GClinGen:CA10611653C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)6335SCN9AConflicting interpretations of pathogenicityrs180922748RCV000176193|RCV000260317|RCV000276938|RCV000367768|RCV000354077|RCV000487601|RCV000655984|RCV001084299; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|Med2167089942167089942GC2:g.167089942G>CClinGen:CA201841C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3802-4A>G6335SCN9ABenignrs75230218RCV000118304|RCV000266266|RCV000291623|RCV000286080|RCV000380369|RCV000713171|RCV001511351; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|Med2167089976167089976TC2:g.167089976T>CClinGen:CA155131C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3802-8T>C6335SCN9ABenignrs76550960RCV000118305|RCV000311716|RCV000346519|RCV000356696|RCV000393830|RCV000461731|RCV001636670; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MON2167089980167089980AG2:g.167089980A>GClinGen:CA155132C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)6335SCN9AConflicting interpretations of pathogenicityrs202047865RCV000261894|RCV000267598|RCV000268698|RCV000322675|RCV001697825|RCV000556960; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN517202|MON2167094604167094604AGNC_000002.11:g.167094604A>GClinGen:CA1944009C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)6335SCN9AConflicting interpretations of pathogenicityrs141268327RCV000176065|RCV000328939|RCV000335798|RCV000383539|RCV000389147|RCV000422016|RCV000714848|RCV000714847|RCV000768312|RCV001080021; NMedGen:CN169374|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MedGen:CN517202|MON2167094638167094638TC2:g.167094638T>CClinGen:CA201784C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala)6335SCN9AUncertain significancers886055052RCV000337267|RCV000302176|RCV000408353|RCV000391769; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C32767062167094651167094651TCNC_000002.11:g.167094651T>CClinGen:CA10612526C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)6335SCN9AConflicting interpretations of pathogenicityrs144941725RCV000274659|RCV000328181|RCV000368900|RCV000362906|RCV000724409|RCV001082326; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MedGen:CN517202|MON2167094721167094721AG2:g.167094721A>GClinGen:CA241933C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)6335SCN9ABenignrs77144869RCV000118302|RCV000278050|RCV000283760|RCV000316847|RCV000388896|RCV000460944|RCV001618279; NMedGen:CN169374|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MON2167094730167094730GT2:g.167094730G>TClinGen:CA155128C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr)6335SCN9AUncertain significancers370455223RCV000309601|RCV000312648|RCV000344487|RCV000287148|RCV000366314|RCV000406524|RCV000391416|RCV000552252; NMONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MedGen:C3276706|MedGen:CN239438|MedGen:C0002768|MONDO:MONDO:0018214,MedGen:C32167099142167099142CTNC_000002.11:g.167099142C>TClinGen:CA1944037C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)6335SCN9AConflicting interpretations of pathogenicityrs759003928RCV000541916|RCV000778570|RCV001129049|RCV001129048|RCV001811060; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MON2167099157167099157CT2:g.167099157C>TClinGen:CA1944039C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)6335SCN9AUncertain significancers1018959938RCV001131732|RCV001131731|RCV001132738|RCV001297092; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C27520892167099163167099163CT2:g.167099163C>T-
NM_001365536.1(SCN9A):c.3472+14T>C6335SCN9ABenign/Likely benignrs201979079RCV000277664|RCV000319396|RCV000354906|RCV000376405|RCV002057584; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:00243092167108261167108261AGNC_000002.11:g.167108261A>GClinGen:CA1944052C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr)6335SCN9AUncertain significancers750839038RCV000265329|RCV000287562|RCV000291462|RCV000303336|RCV000322717|RCV000344772|RCV000379641|RCV000383041|RCV000802058; NMedGen:C0002768|MedGen:CN239438|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387|MedGen:C3276706|MONDO:MONDO2167108283167108283AT2:g.167108283A>TClinGen:CA1944055C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)6335SCN9AConflicting interpretations of pathogenicityrs200160858RCV000249295|RCV000527962|RCV001132739|RCV001132741|RCV001132740|RCV001824712; NMedGen:CN169374|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Or2167108345167108345CA2:g.167108345C>AClinGen:CA1944069C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile)6335SCN9AUncertain significancers765384427RCV000821630|RCV001136145|RCV001136146|RCV001132742; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orpha2167108359167108359CT2:g.167108359C>T-
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn)6335SCN9AConflicting interpretations of pathogenicityrs141040985RCV000298492|RCV000313804|RCV000393826|RCV000393834|RCV001861135; NMedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:00243092167108379167108379CTNC_000002.11:g.167108379C>TClinGen:CA1944075C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)6335SCN9ABenign/Likely benignrs74401238RCV000118300|RCV000264601|RCV000268136|RCV000303417|RCV000360377|RCV000476760|RCV000755628; NMedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MON2167108385167108385CT2:g.167108385C>TClinGen:CA155125C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)6335SCN9AConflicting interpretations of pathogenicityrs201984007RCV000293562|RCV000329282|RCV000335564|RCV000388955|RCV000647806; NMedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:00243092167128917167128917TCNC_000002.11:g.167128917T>CClinGen:CA1944092C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr)6335SCN9AUncertain significancers774490843RCV001129165|RCV001129164|RCV001129166; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167128988167128988AG2:g.167128988A>G-
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met)6335SCN9AUncertain significancers886055053RCV000300449|RCV000339988|RCV000403203|RCV000407069|RCV001850784; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:00243092167128995167128995CTNC_000002.11:g.167128995C>TClinGen:CA10611655C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)6335SCN9AConflicting interpretations of pathogenicityrs188145203RCV000308517|RCV000330258|RCV000333798|RCV000368610|RCV000478443|RCV000865153|RCV001705501; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN169374|MON2167129240167129240CTNC_000002.11:g.167129240C>TClinGen:CA1944153C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)6335SCN9AConflicting interpretations of pathogenicityrs121908910RCV000006728|RCV000559164|RCV001559739; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MedGen:CN5172022167129241167129241GA2:g.167129241G>AClinGen:CA118140,OMIM:603415.0008C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)6335SCN9AConflicting interpretations of pathogenicityrs4369876RCV000080039|RCV000284177|RCV000375717|RCV000389941|RCV000469131|RCV000490436|RCV000992915; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,M2167129256167129256CA2:g.167129256C>AClinGen:CA147606,OMIM:603415.0025,ClinVar:441531C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)6335SCN9AConflicting interpretations of pathogenicityrs199692186RCV000118298|RCV000222414|RCV000313714|RCV000366834|RCV000391228|RCV000391236|RCV000655986|RCV001080160; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642,2167129258167129258TC2:g.167129258T>CClinGen:CA231497C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=)6335SCN9AUncertain significancers886055054RCV000320749|RCV000355704|RCV000370748|RCV000377883; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167129344167129344AGNC_000002.11:g.167129344A>GClinGen:CA10611656C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2875-5del6335SCN9ABenign/Likely benignrs774840081RCV000285680|RCV000281873|RCV000289335|RCV000346674|RCV000324494|RCV000381351|RCV000400182|RCV001511361; NMedGen:C0002768|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MedGen:CN239438|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210|MONDO:MONDO:0100135,MedGen:2167129390167129390TATNC_000002.11:g.167129390delClinGen:CA1944169C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2875-6A>G6335SCN9ABenign/Likely benignrs760470229RCV000297000|RCV000312086|RCV000393499|RCV000393515|RCV002057585; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:00243092167129391167129391TCNC_000002.11:g.167129391T>CClinGen:CA1944171C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2874+13del6335SCN9ABenignrs200434162RCV000268373|RCV000272306|RCV000308433|RCV000323457|RCV002057586; NMedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MedGen:CN239438|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167133480167133480ATANC_000002.11:g.167133480delClinGen:CA10612806C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala)6335SCN9AConflicting interpretations of pathogenicityrs201890077RCV000295204|RCV000320092|RCV000350156|RCV000374784|RCV000870579; NMedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:00243092167133515167133515AGNC_000002.11:g.167133515A>GClinGen:CA1944195C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)6335SCN9AConflicting interpretations of pathogenicityrs202152511RCV000479461|RCV000700015|RCV001535622; NMedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orph2167133648167133648GA2:g.167133648G>AClinGen:CA1944214C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.2517+6C>T6335SCN9ABenign/Likely benignrs145316463RCV000310654|RCV000266516|RCV000302754|RCV000361097|RCV000418875|RCV001718701|RCV000470795; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN169374|Med2167134644167134644GANC_000002.11:g.167134644G>AClinGen:CA1944260C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)6335SCN9AConflicting interpretations of pathogenicityrs200185692RCV000262836|RCV000333422|RCV000373036|RCV000387938|RCV000868455; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:00243092167134671167134671TGNC_000002.11:g.167134671T>GClinGen:CA1944266C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)6335SCN9AConflicting interpretations of pathogenicityrs41268671RCV000285786|RCV000344215|RCV000402179|RCV000384589|RCV000498158|RCV001086993|RCV001332207; NMedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN517202|MON2167134706167134706CT2:g.167134706C>TClinGen:CA1944268C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly)6335SCN9ABenign/Likely benignrs201890240RCV000355550|RCV000300749|RCV000370491|RCV000391453|RCV000431378|RCV001079375; NMedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN517202|MON2167134730167134730TCNC_000002.11:g.167134730T>CClinGen:CA1944275C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)6335SCN9ABenign/Likely benignrs149707354RCV000174878|RCV000272219|RCV000327341|RCV000288445|RCV000366775|RCV000513798|RCV001085147|RCV001197520; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|Med2167134775167134775TC2:g.167134775T>CClinGen:CA201201C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)6335SCN9AConflicting interpretations of pathogenicityrs182650126RCV000144932|RCV000218739|RCV000281545|RCV000284837|RCV000398464|RCV000416064|RCV000986925|RCV001083229|RCV001094589; NMedGen:C3276706|MedGen:CN169374|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN517202|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Or2167136962167136962TC2:g.167136962T>CClinGen:CA171007,OMIM:603415.0027C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val)6335SCN9AUncertain significancers201744417RCV001136364|RCV001132927|RCV001132928|RCV001856715; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0024309,MedGen:C27520892167136970167136970TA2:g.167136970T>A-
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His)6335SCN9AUncertain significancers1486841808RCV001136367|RCV001136366|RCV001136365; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167136971167136971CG2:g.167136971C>G-
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)6335SCN9AConflicting interpretations of pathogenicityrs200945460RCV000023302|RCV000118297|RCV000191125|RCV000311897|RCV000393721|RCV000476046|RCV001546748; NMedGen:C3276706|MedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MON2167137018167137018AT2:g.167137018A>TClinGen:CA129149,OMIM:603415.0023C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys)6335SCN9ABenign/Likely benignrs202055175RCV000244421|RCV000266453|RCV000281599|RCV000514405|RCV000326970|RCV000361155|RCV001084258; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN517202|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|Med2167137020167137020CG2:g.167137020C>GClinGen:CA1944311C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser)6335SCN9ABenign/Likely benignrs187526567RCV000293618|RCV000348584|RCV000372662|RCV001088445|RCV000387999|RCV000430400; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,O2167137045167137045AGNC_000002.11:g.167137045A>GClinGen:CA1944317C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2105-14C>T6335SCN9ABenignrs6432893RCV000153916|RCV000264427|RCV000305661|RCV000309027|RCV000345278|RCV001596978|RCV002056045; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|Med2167137119167137119GA2:g.167137119G>AClinGen:CA180416C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.2105-15G>A6335SCN9ABenignrs4525717RCV000153917|RCV000263173|RCV000275871|RCV000385556|RCV000372890|RCV001707538|RCV002056046; NMedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|Med2167137120167137120CT2:g.167137120C>TClinGen:CA180417C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn)6335SCN9AUncertain significancers369989247RCV000795381|RCV001132096|RCV001133027|RCV001132095; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orpha2167138295167138295CG2:g.167138295C>G-
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)6335SCN9AConflicting interpretations of pathogenicityrs200014315RCV000302532|RCV000344915|RCV000384201|RCV000345922|RCV000726836|RCV001087572; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN517202|MON2167138313167138313CTNC_000002.11:g.167138313C>TClinGen:CA1944369C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu)6335SCN9ABenign/Likely benignrs200671761RCV000336874|RCV000335619|RCV000376217|RCV000401672|RCV000529731; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:00243092167141099167141099GA2:g.167141099G>AClinGen:CA1944422C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)6335SCN9AConflicting interpretations of pathogenicityrs201318927RCV000269144|RCV000326582|RCV000367169|RCV000392642|RCV000555830; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:00243092167141144167141144CT2:g.167141144C>TClinGen:CA1944429C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)6335SCN9AConflicting interpretations of pathogenicityrs200876333RCV000282063|RCV000294925|RCV000374225|RCV000372990|RCV000867415|RCV001491805; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MedGen:CN517202|MON2167141224167141224GA2:g.167141224G>AClinGen:CA10611677C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)6335SCN9AConflicting interpretations of pathogenicityrs199748300RCV000293514|RCV000346132|RCV000363472|RCV000401490|RCV000493503|RCV000688718; NMedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN517202|MON2167141318167141318CT2:g.167141318C>TClinGen:CA1944463C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1603-21dup6335SCN9ABenign/Likely benignrs200430382RCV000266043|RCV000318934|RCV000357336|RCV000358460|RCV002057587; NMedGen:CN239438|MedGen:C3276706|MedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:363872167141347167141348TTA2:g.167141347_167141348insAClinGen:CA1944472C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)6335SCN9AConflicting interpretations of pathogenicityrs777699798RCV000289493|RCV000381650|RCV000390435|RCV000400251|RCV000695710; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:00243092167142966167142966CA2:g.167142966C>AClinGen:CA1944501C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)6335SCN9ABenign/Likely benignrs58022607RCV000118294|RCV000274821|RCV000296851|RCV000314578|RCV000366951|RCV000472690|RCV001705856; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MON2167142979167142979CT2:g.167142979C>TClinGen:CA155113,UniProtKB:Q15858#VAR_064602C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)6335SCN9AConflicting interpretations of pathogenicityrs200682458RCV000283366|RCV000342995|RCV000378848|RCV000378922|RCV000726661|RCV001083458; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN517202|MON2167142984167142984GA2:g.167142984G>AClinGen:CA1944503C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)6335SCN9ABenign/Likely benignrs201531206RCV000153920|RCV000279783|RCV000334731|RCV000349722|RCV000398826|RCV000762063|RCV001083995; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|Med2167143050167143050GA2:g.167143050G>AClinGen:CA180419C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)6335SCN9AConflicting interpretations of pathogenicityrs201990547RCV000269918|RCV000306280|RCV000321651|RCV000369264|RCV000545934; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MedGen:C3276706|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,M2167143101167143101AG2:g.167143101A>GClinGen:CA1944523C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)6335SCN9ABenignrs6747673RCV000118293|RCV000267710|RCV000282544|RCV000292831|RCV000318943|RCV000713164|RCV001521207; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|Med2167144974167144974AT2:g.167144974A>TClinGen:CA155110C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)6335SCN9AConflicting interpretations of pathogenicityrs200415928RCV000463481|RCV000768079|RCV001755714; NMONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348; MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642,Orp2167144984167144984ATNC_000002.11:g.167144984A>TClinGen:CA1944559C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)6335SCN9ABenignrs13402180RCV000118292|RCV000344725|RCV000352364|RCV000359549|RCV000399562|RCV000713163|RCV001521208; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|Med2167144995167144995TC2:g.167144995T>CClinGen:CA155107C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)6335SCN9AConflicting interpretations of pathogenicityrs199986805RCV000260488|RCV000306043|RCV000315687|RCV000356412|RCV000647753|RCV001770266; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:00243092167145053167145053AG2:g.167145053A>GClinGen:CA1944567C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)6335SCN9AUncertain significancers746956041RCV000347465|RCV000295918|RCV000330998|RCV000385527|RCV001582974|RCV001239239; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MedGen:CN517202|MON2167145054167145054TGNC_000002.11:g.167145054T>GClinGen:CA10612824C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)6335SCN9ABenignrs58465962RCV000118291|RCV000304547|RCV000339602|RCV000396461|RCV000400533|RCV000471210|RCV001711287; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MON2167145106167145106CA2:g.167145106C>AClinGen:CA155104C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn)6335SCN9AConflicting interpretations of pathogenicityrs188798505RCV000270280|RCV000273654|RCV000299739|RCV000368455; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167145122167145122ATNC_000002.11:g.167145122A>TClinGen:CA1944577C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)6335SCN9ABenignrs13414203RCV000118290|RCV000271006|RCV000286417|RCV000341529|RCV000372805|RCV000713162|RCV001521209; NMedGen:CN169374|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|Med2167145142167145142AG2:g.167145142A>GClinGen:CA155101C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1107+48C>T6335SCN9ABenign-1RCV001807561|RCV001807559|RCV001807560; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167149693167149693GA167149693-
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser)6335SCN9AUncertain significancers886055055RCV000278940|RCV000312807|RCV000348950|RCV001225009|RCV000399817; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751772167149754167149754TCNC_000002.11:g.167149754T>CClinGen:CA10612539C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu)6335SCN9AUncertain significancers886055056RCV000266284|RCV000321126|RCV000363869|RCV000380393; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167149834167149834ACNC_000002.11:g.167149834A>CClinGen:CA10611247C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)6335SCN9AConflicting interpretations of pathogenicityrs765818027RCV001134712|RCV001134711|RCV001214418|RCV001134710; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orp2167149868167149868CT2:g.167149868C>T-
NM_001365536.1(SCN9A):c.965+13T>C6335SCN9AConflicting interpretations of pathogenicityrs772337722RCV000280489|RCV000317791|RCV000349425|RCV000385347|RCV000436811|RCV002057588; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MedGen:CN169374|MON2167151096167151096AGNC_000002.11:g.167151096A>GClinGen:CA1944626C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.688+13T>C6335SCN9ABenignrs74449889RCV000243099|RCV000302315|RCV000350736|RCV000389992|RCV000397088|RCV002055798; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MON2167160735167160735AG2:g.167160735A>GClinGen:CA293428C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)6335SCN9AConflicting interpretations of pathogenicityrs755653914RCV000318402|RCV000356819|RCV000353484|RCV000398853|RCV001205873; NMedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,M2167160751167160751GTNC_000002.11:g.167160751G>TClinGen:CA1944733C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.596+25C>T6335SCN9ABenign-1RCV001807563|RCV001807562|RCV001807564; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167162277167162277GA167162277-
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)6335SCN9ABenign/Likely benignrs73969684RCV000144931|RCV000144930|RCV000178871|RCV000382273|RCV000331310|RCV000421273|RCV001081785; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|Med2167162344167162344CTNC_000002.11:g.167162344C>TClinGen:CA171004,OMIM:603415.0026C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)6335SCN9ABenignrs9646771RCV000118307|RCV000283990|RCV000297056|RCV000341457|RCV000400502|RCV000713173|RCV001520808; NMedGen:CN169374|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|Med2167163043167163043TC2:g.167163043T>CClinGen:CA155133C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)6335SCN9AUncertain significancers199824489RCV000235689|RCV000276463|RCV000270542|RCV000333786|RCV000311734|RCV000693754; NMedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MON2167163549167163549GT2:g.167163549G>TClinGen:CA1944831C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr)6335SCN9AUncertain significancers747265095RCV000322499|RCV000287405|RCV000335392|RCV000373624; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167163569167163569TANC_000002.11:g.167163569T>AClinGen:CA10612832C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser)6335SCN9AUncertain significancers768587771RCV001129827|RCV001129828|RCV001129829; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167168029167168029GA2:g.167168029G>A-
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)6335SCN9AConflicting interpretations of pathogenicityrs200240989RCV000281460|RCV000312180|RCV000337865|RCV000400747|RCV000535545|RCV001577710; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:00243092167168054167168054CTNC_000002.11:g.167168054C>TClinGen:CA1944867C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)6335SCN9ABenignrs6432901RCV000118295|RCV000310588|RCV000323339|RCV000380181|RCV000363455|RCV000713166|RCV001514399; NMedGen:CN169374|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|Med2167168093167168093CT2:g.167168093C>TClinGen:CA155116C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)6335SCN9AConflicting interpretations of pathogenicityrs200826539RCV000295951|RCV000349888|RCV000374375|RCV000388140|RCV000546843|RCV001699462; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:00243092167168138167168138AGNC_000002.11:g.167168138A>GClinGen:CA1944883C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys)6335SCN9AUncertain significancers200709311RCV001133442|RCV001133440|RCV001133441|RCV001856719; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0024309,MedGen:C27520892167168194167168194GT2:g.167168194G>T-
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg)6335SCN9ALikely benignrs267607030RCV000006742|RCV000302710|RCV000309032|RCV000402111|RCV000532835; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:00243092167168238167168238TC2:g.167168238T>CClinGen:CA253850,UniProtKB:Q15858#VAR_064595,OMIM:603415.0022C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.-31G>A6335SCN9AConflicting interpretations of pathogenicityrs200780217RCV001133443|RCV001134931; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167168297167168297CT2:g.167168297C>T-
NM_001365536.1(SCN9A):c.-42T>C6335SCN9AConflicting interpretations of pathogenicityrs201915876RCV001134932|RCV001134933|RCV001134934; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:463482167168308167168308AG2:g.167168308A>G-
NM_001365536.1(SCN9A):c.-92G>T6335SCN9AConflicting interpretations of pathogenicityrs569406301RCV001129912|RCV001134935|RCV001134936; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167232248167232248CA2:g.167232248C>A-
NM_001365536.1(SCN9A):c.-126G>C6335SCN9AUncertain significancers200099565RCV000261895|RCV000267599|RCV000354249|RCV000386107; NMONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167232282167232282CGNC_000002.11:g.167232282C>GClinGen:CA10611678C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.-277C>T6335SCN9AConflicting interpretations of pathogenicityrs201445594RCV000291679|RCV000326648|RCV000332653|RCV000389564; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN2394382167232433167232433GANC_000002.11:g.167232433G>AClinGen:CA10612542C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.-283G>C6335SCN9ABenign/Likely benignrs191091185RCV000286040|RCV000299163|RCV000396347|RCV000401223; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167232439167232439CGNC_000002.11:g.167232439C>GClinGen:CA10611250C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.-290T>C6335SCN9ABenignrs148362057RCV000275464|RCV000276939|RCV000325020|RCV000330524; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167232446167232446AGNC_000002.11:g.167232446A>GClinGen:CA10612544C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.-294T>C6335SCN9ABenign/Likely benignrs141521157RCV000341898|RCV000281178|RCV000317620|RCV000375745; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167232450167232450AGNC_000002.11:g.167232450A>GClinGen:CA10611251C0002768 Congenital Indifference to Pain;
NM_002977.3(SCN9A):c.-307G>T6335SCN9ABenignrs1881440RCV000283404|RCV000307802|RCV000393243|RCV000399426; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:CN239438|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167232463167232463CANC_000002.11:g.167232463C>AClinGen:CA10612545C0002768 Congenital Indifference to Pain;
NM_002977.3(SCN9A):c.-324C>T6335SCN9AUncertain significancers201905758RCV000260424|RCV000355253|RCV000315688|RCV000379640; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167232480167232480GANC_000002.11:g.167232480G>AClinGen:CA10612549C0002768 Congenital Indifference to Pain;
NM_002977.3(SCN9A):c.-324C>A6335SCN9AUncertain significancers201905758RCV001133563|RCV001133564|RCV001135051; NMONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:900262167232480167232480GT2:g.167232480G>T-
NM_002977.3(SCN9A):c.-339G>C6335SCN9AUncertain significancers886055057RCV000266719|RCV000291293|RCV000296489|RCV000321772; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MedGen:C3276706|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167232495167232495CGNC_000002.11:g.167232495C>GClinGen:CA10612557C0002768 Congenital Indifference to Pain;
NM_002977.3(SCN9A):c.-348G>C6335SCN9AUncertain significancers1051254799RCV001135054|RCV001135052|RCV001135053; NMONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:9702167232504167232504CG2:g.167232504C>G-
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