Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_005896.4(IDH1):c.890G>T (p.Cys297Phe) | 3417 | IDH1 | Likely pathogenic | -1 | RCV001647346; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 209104688 | 209104688 | C | A | 209104688 | - | | |
NM_001365536.1(SCN9A):c.*3426A>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs186838828 | RCV000273901|RCV000324427|RCV000328915|RCV000368490; | N | 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:CN239438 | 2 | 167051756 | 167051756 | T | A | 2:g.167051756T>A | ClinGen:CA10611582 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*3317A>G | 6335 | SCN9A | Benign/Likely benign | rs191667986 | RCV000281153|RCV000284604|RCV000320914|RCV000372279; | N | MONDO: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:90026 | 2 | 167051865 | 167051865 | T | C | 2:g.167051865T>C | ClinGen:CA10612760 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*3282A>C | 6335 | SCN9A | Uncertain significance | rs139483482 | RCV000307555|RCV000311113|RCV000347160|RCV000399316; | N | 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 | 2 | 167051900 | 167051900 | T | G | 2:g.167051900T>G | ClinGen:CA10611203 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*3204G>A | 6335 | SCN9A | Uncertain significance | rs201300071 | RCV001134929|RCV001134930|RCV001134928; | N | 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 | 2 | 167051978 | 167051978 | C | T | 2:g.167051978C>T | - | | |
NM_001365536.1(SCN9A):c.*3202T>C | 6335 | SCN9A | Uncertain significance | rs1015184575 | RCV001129908|RCV001129907|RCV001129909; | N | 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 | 2 | 167051980 | 167051980 | A | G | 2:g.167051980A>G | - | | |
NM_001365536.1(SCN9A):c.*3102C>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs182687583 | RCV000261410|RCV000304979|RCV000320220|RCV000359735; | N | MONDO: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:90026 | 2 | 167052080 | 167052080 | G | A | 2:g.167052080G>A | ClinGen:CA10611204 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*3094A>G | 6335 | SCN9A | Uncertain significance | rs1433503694 | RCV001129910|RCV001129911|RCV001130612; | N | 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 | 2 | 167052088 | 167052088 | T | C | 2:g.167052088T>C | - | | |
NM_001365536.1(SCN9A):c.*3053G>A | 6335 | SCN9A | Uncertain significance | rs199656729 | RCV001130613|RCV001130614|RCV001130615; | N | 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 | 2 | 167052129 | 167052129 | C | T | 2:g.167052129C>T | - | | |
NM_001365536.1(SCN9A):c.*3038C>T | 6335 | SCN9A | Benign/Likely benign | rs115766730 | RCV000346675|RCV000295071|RCV000385957|RCV000389431; | N | 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 | 2 | 167052144 | 167052144 | G | A | 2:g.167052144G>A | ClinGen:CA10611205 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2986T>G | 6335 | SCN9A | Uncertain significance | rs201730339 | RCV000341523|RCV000261600|RCV000301676|RCV000356580; | N | MedGen: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 | 2 | 167052196 | 167052196 | A | C | 2:g.167052196A>C | ClinGen:CA10611584 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2945C>A | 6335 | SCN9A | Uncertain significance | rs1693226507 | RCV001133561|RCV001133562|RCV001133560; | N | 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 | 2 | 167052237 | 167052237 | G | T | 2:g.167052237G>T | - | | |
NM_001365536.1(SCN9A):c.*2928G>A | 6335 | SCN9A | Uncertain significance | rs199559478 | RCV000273689|RCV000276973|RCV000328701|RCV000386926; | N | MONDO: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 | 2 | 167052254 | 167052254 | C | T | 2:g.167052254C>T | ClinGen:CA10611209 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2860C>T | 6335 | SCN9A | Uncertain significance | rs200963393 | RCV000340690|RCV000383549|RCV000397721|RCV000380022; | N | MedGen: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 | 2 | 167052322 | 167052322 | G | A | 2:g.167052322G>A | ClinGen:CA10612762 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2854T>C | 6335 | SCN9A | Benign | rs73017538 | RCV000311164|RCV000298332|RCV000337355|RCV000401648; | N | MONDO: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 | 2 | 167052328 | 167052328 | A | G | NC_000002.11:g.167052328A>G | ClinGen:CA10611585 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2744del | 6335 | SCN9A | Uncertain significance | rs763459885 | RCV000269917|RCV000328465|RCV000362135|RCV000322694|RCV000271243|RCV000377051|RCV000368073; | N | MedGen: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:C3 | 2 | 167052438 | 167052438 | AG | A | NC_000002.11:g.167052438del | ClinGen:CA10612499 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2729C>A | 6335 | SCN9A | Uncertain significance | rs1313840276 | RCV001130028|RCV001135050|RCV001135049; | N | 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 | 2 | 167052453 | 167052453 | G | T | 2:g.167052453G>T | - | | |
NM_001365536.1(SCN9A):c.*2721C>G | 6335 | SCN9A | Benign/Likely benign | rs199595958 | RCV000284860|RCV000279132|RCV000336598|RCV000395211; | N | 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:C3276706 | 2 | 167052461 | 167052461 | G | C | NC_000002.11:g.167052461G>C | ClinGen:CA10611216 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2677T>C | 6335 | SCN9A | Uncertain significance | rs1472041217 | RCV001130029|RCV001130030|RCV001130031; | N | 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 | 2 | 167052505 | 167052505 | A | G | 2:g.167052505A>G | - | | |
NM_001365536.1(SCN9A):c.*2662G>A | 6335 | SCN9A | Benign/Likely benign | rs149873320 | RCV000348882|RCV000366288|RCV000308394|RCV000395215; | N | MedGen: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 | 2 | 167052520 | 167052520 | C | T | NC_000002.11:g.167052520C>T | ClinGen:CA10611586 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2640G>A | 6335 | SCN9A | Benign | rs13396526 | RCV000319290|RCV000320479|RCV000358944|RCV000371449; | N | MedGen: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:90026 | 2 | 167052542 | 167052542 | C | T | NC_000002.11:g.167052542C>T | ClinGen:CA10612500 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2616_*2626del | 6335 | SCN9A | Benign | rs145255931 | RCV000344114|RCV000291307|RCV000292544|RCV000349801|RCV000331992|RCV000383338|RCV000388899; | N | MONDO: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:PS121 | 2 | 167052556 | 167052566 | CTTAAAAAAGTT | C | NC_000002.11:g.167052558_167052568del | ClinGen:CA10611221 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2540C>T | 6335 | SCN9A | Benign | rs58249489 | RCV000357066|RCV000304471|RCV000393187|RCV000400219; | N | MONDO: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 | 2 | 167052642 | 167052642 | G | A | NC_000002.11:g.167052642G>A | ClinGen:CA10611225 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2344C>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200962814 | RCV000277176|RCV000328652|RCV000369481|RCV000386663; | N | 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 | 2 | 167052838 | 167052838 | G | A | NC_000002.11:g.167052838G>A | ClinGen:CA10612763 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2323G>T | 6335 | SCN9A | Benign/Likely benign | rs142172527 | RCV000341064|RCV000288613|RCV000379593|RCV000399016; | N | MedGen: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 | 2 | 167052859 | 167052859 | C | A | NC_000002.11:g.167052859C>A | ClinGen:CA10611591 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2312A>T | 6335 | SCN9A | Benign/Likely benign | rs185580193 | RCV000312641|RCV000301270|RCV000371364|RCV000400656; | N | MedGen: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:970 | 2 | 167052870 | 167052870 | T | A | NC_000002.11:g.167052870T>A | ClinGen:CA10612766 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2297A>T | 6335 | SCN9A | Benign | rs75345520 | RCV000267308|RCV000325935|RCV000324675|RCV000376947; | N | MedGen: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 | 2 | 167052885 | 167052885 | T | A | NC_000002.11:g.167052885T>A | ClinGen:CA10611594 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2228G>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200790957 | RCV000280565|RCV000350580|RCV000371700|RCV000396045; | N | 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 | 2 | 167052954 | 167052954 | C | A | NC_000002.11:g.167052954C>A | ClinGen:CA10612767 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2226T>G | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs141310425 | RCV000304360|RCV000310155|RCV000349576|RCV000362401; | N | MONDO: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 | 2 | 167052956 | 167052956 | A | C | NC_000002.11:g.167052956A>C | ClinGen:CA10612501 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2222T>C | 6335 | SCN9A | Uncertain significance | rs199958892 | RCV000259724|RCV000293690|RCV000264461|RCV000374165; | N | 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:CN239438 | 2 | 167052960 | 167052960 | A | G | NC_000002.11:g.167052960A>G | ClinGen:CA10612508 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2212T>C | 6335 | SCN9A | Benign/Likely benign | rs200750861 | RCV000344969|RCV000346169|RCV000294861|RCV000330013; | N | MONDO: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 | 2 | 167052970 | 167052970 | A | G | NC_000002.11:g.167052970A>G | ClinGen:CA10611226 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2191G>A | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201184093 | RCV000342600|RCV000357374|RCV000394741|RCV000398622; | N | 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 | 2 | 167052991 | 167052991 | C | T | NC_000002.11:g.167052991C>T | ClinGen:CA10612768 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2155G>A | 6335 | SCN9A | Benign/Likely benign | rs77565541 | RCV000313073|RCV000329498|RCV000277964|RCV000367797; | N | MONDO: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:46348 | 2 | 167053027 | 167053027 | C | T | NC_000002.11:g.167053027C>T | ClinGen:CA10611595 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2154C>G | 6335 | SCN9A | Benign | rs17804037 | RCV000284995|RCV000339869|RCV000286111|RCV000336414; | N | 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 | 2 | 167053028 | 167053028 | G | C | NC_000002.11:g.167053028G>C | ClinGen:CA10612769 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2146G>C | 6335 | SCN9A | Benign | rs1062844 | RCV000275838|RCV000307597|RCV000311197|RCV000300570; | N | 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:CN239438 | 2 | 167053036 | 167053036 | C | G | NC_000002.11:g.167053036C>G | ClinGen:CA10612509 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2136C>G | 6335 | SCN9A | Benign | rs77050817 | RCV000272494|RCV000362498|RCV000324264|RCV000378866; | N | MONDO: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:90026 | 2 | 167053046 | 167053046 | G | C | NC_000002.11:g.167053046G>C | ClinGen:CA10612774 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*2078C>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs548072061 | RCV000279794|RCV000294797|RCV000338316|RCV000402971; | N | 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 | 2 | 167053104 | 167053104 | G | A | NC_000002.11:g.167053104G>A | ClinGen:CA10612775 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1960_*1962dup | 6335 | SCN9A | Likely benign | rs202073550 | RCV000309914|RCV000345173|RCV000364626|RCV000301570|RCV000361186|RCV000399974|RCV000397034; | N | MedGen: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:C3 | 2 | 167053219 | 167053220 | C | CCAA | NC_000002.11:g.167053222_167053224dup | ClinGen:CA10611596 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1815T>C | 6335 | SCN9A | Uncertain significance | rs202203220 | RCV001135333|RCV001135334|RCV001135335; | N | 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 | 2 | 167053367 | 167053367 | A | G | 2:g.167053367A>G | - | | |
NM_001365536.1(SCN9A):c.*1796C>T | 6335 | SCN9A | Benign | rs16851751 | RCV000266558|RCV000263670|RCV000316954|RCV000318792; | N | MONDO: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 | 2 | 167053386 | 167053386 | G | A | NC_000002.11:g.167053386G>A | ClinGen:CA10611227 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1774G>A | 6335 | SCN9A | Benign | rs114843828 | RCV000289218|RCV000334156|RCV000404015|RCV000388679; | N | 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 | 2 | 167053408 | 167053408 | C | T | NC_000002.11:g.167053408C>T | ClinGen:CA10611597 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1770A>C | 6335 | SCN9A | Uncertain significance | rs200353065 | RCV000297830|RCV000306019|RCV000274588|RCV000394677; | N | MONDO: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 | 2 | 167053412 | 167053412 | T | G | NC_000002.11:g.167053412T>G | ClinGen:CA10612512 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1735C>A | 6335 | SCN9A | Uncertain significance | rs1693263246 | RCV001130291|RCV001130290|RCV001131002; | N | 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 | 2 | 167053447 | 167053447 | G | T | 2:g.167053447G>T | - | | |
NM_001365536.1(SCN9A):c.*1660G>A | 6335 | SCN9A | Benign | rs16851753 | RCV000291186|RCV000329620|RCV000327593|RCV000380829; | N | 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:C3276706 | 2 | 167053522 | 167053522 | C | T | NC_000002.11:g.167053522C>T | ClinGen:CA10611604 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1643T>C | 6335 | SCN9A | Uncertain significance | rs1693265771 | RCV001131003|RCV001131004|RCV001131005; | N | 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 | 2 | 167053539 | 167053539 | A | G | 2:g.167053539A>G | - | | |
NM_001365536.1(SCN9A):c.*1605T>C | 6335 | SCN9A | Uncertain significance | rs199848927 | RCV000272305|RCV000324018|RCV000320323|RCV000266349; | N | MONDO: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:46348 | 2 | 167053577 | 167053577 | A | G | NC_000002.11:g.167053577A>G | ClinGen:CA10612777 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1605del | 6335 | SCN9A | Benign | rs148459420 | RCV000313771|RCV000268985|RCV000300920|RCV000397647; | N | MedGen:C0002768|MedGen:C3276706|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167053577 | 167053577 | TA | T | NC_000002.11:g.167053577del | ClinGen:CA10612778 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1492C>G | 6335 | SCN9A | Benign | rs73017542 | RCV000306954|RCV000279508|RCV000351500|RCV000386213; | N | 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, Orphanet:970 | 2 | 167053690 | 167053690 | G | C | NC_000002.11:g.167053690G>C | ClinGen:CA10612779 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1434dup | 6335 | SCN9A | Likely benign | rs199505193 | RCV000305048|RCV000310372|RCV000345421|RCV000358620; | N | MedGen:C0002768|MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706 | 2 | 167053747 | 167053748 | G | GA | NC_000002.11:g.167053754dup | ClinGen:CA10612783 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1422T>C | 6335 | SCN9A | Uncertain significance | rs1693272137 | RCV001133954|RCV001133955|RCV001133953; | N | 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 | 2 | 167053760 | 167053760 | A | G | 2:g.167053760A>G | - | | |
NM_001365536.1(SCN9A):c.*1417A>G | 6335 | SCN9A | Uncertain significance | rs201120940 | RCV001135467|RCV001135468|RCV001135466; | N | 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 | 2 | 167053765 | 167053765 | T | C | 2:g.167053765T>C | - | | |
NM_001365536.1(SCN9A):c.*1383G>T | 6335 | SCN9A | Uncertain significance | rs896976419 | RCV001135469|RCV001135470|RCV001135471; | N | 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 | 2 | 167053799 | 167053799 | C | A | 2:g.167053799C>A | - | | |
NM_001365536.1(SCN9A):c.*1357C>T | 6335 | SCN9A | Uncertain significance | rs200338267 | RCV000260099|RCV000317706|RCV000294479|RCV000374662; | N | MONDO: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 | 2 | 167053825 | 167053825 | G | A | NC_000002.11:g.167053825G>A | ClinGen:CA10611607 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1184T>G | 6335 | SCN9A | Benign | rs11902920 | RCV000283027|RCV000288745|RCV000333168|RCV000380899; | N | MONDO: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 | 2 | 167053998 | 167053998 | A | C | NC_000002.11:g.167053998A>C | ClinGen:CA10612517 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1118_*1119insCA | 6335 | SCN9A | Benign | rs140616949 | RCV000305824|RCV000274983|RCV000353605|RCV000357016; | N | MedGen:C3276706|MedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438 | 2 | 167054063 | 167054064 | T | TTG | NC_000002.11:g.167054063_167054064insTG | ClinGen:CA10612786 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1014G>A | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200393413 | RCV000291451|RCV000326355|RCV000332342|RCV000370774; | N | MONDO: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:970 | 2 | 167054168 | 167054168 | C | T | NC_000002.11:g.167054168C>T | ClinGen:CA10611608 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*1013C>T | 6335 | SCN9A | Benign | rs16851754 | RCV000279403|RCV000342424|RCV000377310|RCV000404321; | N | 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 | 2 | 167054169 | 167054169 | G | A | NC_000002.11:g.167054169G>A | ClinGen:CA10611612 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*958C>T | 6335 | SCN9A | Benign/Likely benign | rs143727895 | RCV000311196|RCV000315200|RCV000368823|RCV000327960; | N | MONDO: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:90026 | 2 | 167054224 | 167054224 | G | A | NC_000002.11:g.167054224G>A | ClinGen:CA10611619 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*948G>A | 6335 | SCN9A | Uncertain significance | rs201415802 | RCV000264600|RCV000316755|RCV000268608|RCV000322461; | N | MedGen: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 | 2 | 167054234 | 167054234 | C | T | 2:g.167054234C>T | ClinGen:CA10611229 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*920T>A | 6335 | SCN9A | Benign/Likely benign | rs201424899 | RCV000281473|RCV000307487|RCV000351833|RCV000386300; | N | MedGen: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 | 2 | 167054262 | 167054262 | A | T | 2:g.167054262A>T | ClinGen:CA10611621 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*900T>C | 6335 | SCN9A | Uncertain significance | rs200829562 | RCV001134082|RCV001134083|RCV001134084; | N | 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 | 2 | 167054282 | 167054282 | A | G | 2:g.167054282A>G | - | | |
NM_001365536.1(SCN9A):c.*887T>C | 6335 | SCN9A | Uncertain significance | rs200611007 | RCV001134086|RCV001134085|RCV001135589; | N | 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 | 2 | 167054295 | 167054295 | A | G | 2:g.167054295A>G | - | | |
NM_001365536.1(SCN9A):c.*835C>A | 6335 | SCN9A | Uncertain significance | rs199955941 | RCV001135590|RCV001135592|RCV001135591; | N | 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 | 2 | 167054347 | 167054347 | G | T | 2:g.167054347G>T | - | | |
NM_001365536.1(SCN9A):c.*798dup | 6335 | SCN9A | Benign | rs564394161 | RCV000261231|RCV000297667|RCV000301763|RCV000361680|RCV000358954|RCV000346098|RCV000396968; | N | MedGen: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:C3 | 2 | 167054383 | 167054384 | G | GT | 2:g.167054383_167054384insT | ClinGen:CA10611622 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*785C>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs181229506 | RCV000272894|RCV000287909|RCV000327929|RCV000382306; | N | 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 | 2 | 167054397 | 167054397 | G | A | 2:g.167054397G>A | ClinGen:CA10612518 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*771_*772dup | 6335 | SCN9A | Benign | rs144515054 | RCV000348745|RCV000293873|RCV000299664|RCV000403917; | N | MedGen:CN239438|MedGen:C0002768|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C3276706 | 2 | 167054409 | 167054410 | C | CTT | 2:g.167054409_167054410insTT | ClinGen:CA10612519 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*669A>G | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs538508619 | RCV000271307|RCV000301733|RCV000365812|RCV000390545; | N | MONDO: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 | 2 | 167054513 | 167054513 | T | C | 2:g.167054513T>C | ClinGen:CA10612787 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*529_*530del | 6335 | SCN9A | Benign | rs140024416 | RCV000276422|RCV000325731|RCV000331548|RCV000385940; | N | MedGen:CN239438|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:C0002768|MedGen:C3276706 | 2 | 167054652 | 167054653 | TAG | T | 2:g.167054652_167054653del | ClinGen:CA10611623 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*491del | 6335 | SCN9A | Uncertain significance | rs886055047 | RCV000284797|RCV000340056|RCV000279059|RCV000343463|RCV000373230|RCV000405702|RCV000403273; | N | MONDO: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:C3 | 2 | 167054691 | 167054691 | TA | T | 2:g.167054691_167054691del | ClinGen:CA10611627 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*416dup | 6335 | SCN9A | Benign | rs3834910 | RCV000274625|RCV000329739|RCV000364317|RCV000398126; | N | MedGen:CN239438|MedGen:C0002768|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167054765 | 167054766 | C | CA | NC_000002.11:g.167054768dup | ClinGen:CA10612791 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*410A>T | 6335 | SCN9A | Uncertain significance | rs200153085 | RCV001130512|RCV001130513|RCV001130514; | N | 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 | 2 | 167054772 | 167054772 | T | A | 2:g.167054772T>A | - | | |
NM_001365536.1(SCN9A):c.*408A>G | 6335 | SCN9A | Uncertain significance | rs201291538 | RCV001130517|RCV001130516|RCV001130515; | N | 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 | 2 | 167054774 | 167054774 | T | C | 2:g.167054774T>C | - | | |
NM_001365536.1(SCN9A):c.*377C>G | 6335 | SCN9A | Benign/Likely benign | rs115464654 | RCV000287117|RCV000317648|RCV000323289|RCV000372268; | N | MedGen: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 | 2 | 167054805 | 167054805 | G | C | NC_000002.11:g.167054805G>C | ClinGen:CA10612520 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*362C>T | 6335 | SCN9A | Benign/Likely benign | rs185832567 | RCV001131239|RCV001131240|RCV001131241; | N | 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 | 2 | 167054820 | 167054820 | G | A | 2:g.167054820G>A | - | | |
NM_001365536.1(SCN9A):c.*244_*247dup | 6335 | SCN9A | Benign | rs143461219 | RCV000283356|RCV000289285|RCV000352131|RCV000406754; | N | MedGen:C0002768|MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN239438 | 2 | 167054934 | 167054935 | G | GAATC | NC_000002.11:g.167054936_167054939dup | ClinGen:CA10611235 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*237C>G | 6335 | SCN9A | Benign | rs16851755 | RCV000354513|RCV000305126|RCV000367053|RCV000397107; | N | 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 | 2 | 167054945 | 167054945 | G | C | NC_000002.11:g.167054945G>C | ClinGen:CA10612522 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*237C>T | 6335 | SCN9A | Uncertain significance | rs16851755 | RCV001131243|RCV001131242|RCV001134209; | N | 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 | 2 | 167054945 | 167054945 | G | A | 2:g.167054945G>A | - | | |
NM_001365536.1(SCN9A):c.*235T>C | 6335 | SCN9A | Benign/Likely benign | rs140553451 | RCV000326375|RCV000271371|RCV000380985|RCV000384302; | N | MONDO: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 | 2 | 167054947 | 167054947 | A | G | NC_000002.11:g.167054947A>G | ClinGen:CA10612793 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*226A>C | 6335 | SCN9A | Uncertain significance | rs886055048 | RCV000338385|RCV000351399|RCV000298681|RCV000405091; | N | MONDO: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 | 2 | 167054956 | 167054956 | T | G | NC_000002.11:g.167054956T>G | ClinGen:CA10612523 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*217G>A | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200625860 | RCV000264874|RCV000270973|RCV000304876|RCV000310836; | N | MONDO: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 | 2 | 167054965 | 167054965 | C | T | NC_000002.11:g.167054965C>T | ClinGen:CA10612794 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*204G>A | 6335 | SCN9A | Benign/Likely benign | rs111510277 | RCV000274558|RCV000326020|RCV000335227|RCV000387665; | N | MONDO: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 | 2 | 167054978 | 167054978 | C | T | NC_000002.11:g.167054978C>T | ClinGen:CA10611628 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*165_*167dup | 6335 | SCN9A | Uncertain significance | rs886055049 | RCV000343213|RCV000286011|RCV000346695|RCV000303556|RCV000373492|RCV000404787|RCV000405664; | N | MedGen: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:00 | 2 | 167055014 | 167055015 | C | CCAT | NC_000002.11:g.167055016_167055018dup | ClinGen:CA10611644 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*164G>A | 6335 | SCN9A | Uncertain significance | rs1158330162 | RCV001128713|RCV001128712|RCV001128714; | N | 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 | 2 | 167055018 | 167055018 | C | T | 2:g.167055018C>T | - | | |
NM_001365536.1(SCN9A):c.*159T>C | 6335 | SCN9A | Uncertain significance | rs201133173 | RCV001128715|RCV001128716|RCV001128717; | N | 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 | 2 | 167055023 | 167055023 | A | G | 2:g.167055023A>G | - | | |
NM_001365536.1(SCN9A):c.*129C>T | 6335 | SCN9A | Benign | rs16851759 | RCV000306861|RCV000274793|RCV000314833|RCV000363911; | N | MedGen: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 | 2 | 167055053 | 167055053 | G | A | NC_000002.11:g.167055053G>A | ClinGen:CA10612525 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*125C>T | 6335 | SCN9A | Benign/Likely benign | rs200465050 | RCV000286282|RCV000320298|RCV000377270|RCV000378872; | N | 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 | 2 | 167055057 | 167055057 | G | A | NC_000002.11:g.167055057G>A | ClinGen:CA10611239 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*124A>G | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201137748 | RCV000290226|RCV000288897|RCV000312811|RCV000347485; | N | MONDO: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:46348 | 2 | 167055058 | 167055058 | T | C | NC_000002.11:g.167055058T>C | ClinGen:CA10611647 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.*18A>G | 6335 | SCN9A | Benign/Likely benign | rs150401869 | RCV000354679|RCV000358522|RCV000324549|RCV000403477; | N | MedGen: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:46348 | 2 | 167055164 | 167055164 | T | C | NC_000002.11:g.167055164T>C | ClinGen:CA1943585 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs199822303 | RCV000800311|RCV001134340|RCV001134341|RCV001134342|RCV001508456; | N | 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:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,Or | 2 | 167055204 | 167055204 | T | A | 2:g.167055204T>A | - | | |
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) | 6335 | SCN9A | Benign/Likely benign | rs111558968 | RCV000176734|RCV000266158|RCV000288513|RCV000327080|RCV000385041|RCV000442067|RCV001082772; | N | MedGen: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|Med | 2 | 167055370 | 167055370 | G | A | 2:g.167055370G>A | ClinGen:CA202084 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) | 6335 | SCN9A | Benign | rs3750904 | RCV000080041|RCV000299018|RCV000348238|RCV000406081|RCV000407719|RCV000469934; | N | MedGen: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|MON | 2 | 167055393 | 167055393 | T | C | 2:g.167055393T>C | ClinGen:CA147609 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs79805025 | RCV000222397|RCV000270670|RCV000271832|RCV000359398|RCV000390843|RCV000514151|RCV001080948; | N | MedGen: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|Med | 2 | 167055438 | 167055438 | C | T | 2:g.167055438C>T | ClinGen:CA1943628 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His) | 6335 | SCN9A | Uncertain significance | rs199705100 | RCV001128824|RCV001128825|RCV001128823|RCV001232710; | N | 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:0024309,MedGen:C2752089 | 2 | 167055606 | 167055606 | C | T | 2:g.167055606C>T | - | | |
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201875421 | RCV000318343|RCV000332706|RCV000335912|RCV000389535|RCV001428717; | N | MONDO: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:0024309 | 2 | 167055770 | 167055770 | C | T | NC_000002.11:g.167055770C>T | ClinGen:CA1943686 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs372210358 | RCV001131477|RCV001128826|RCV001131478; | N | 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 | 2 | 167055902 | 167055902 | C | G | 2:g.167055902C>G | - | | |
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) | 6335 | SCN9A | Pathogenic | rs879253994 | RCV000235255|RCV000500437; | N | MedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167056221 | 167056221 | G | T | 2:g.167056221G>T | ClinGen:CA10584162 | CN517202 not provided; | |
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) | 6335 | SCN9A | Likely pathogenic | rs1131691776 | RCV000493039|RCV000656134; | N | MedGen:CN517202|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167056281 | 167056281 | A | G | 2:g.167056281A>G | ClinGen:CA349055343 | CN517202 not provided; | |
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) | 6335 | SCN9A | Benign | rs149207258 | RCV000118308|RCV000309081|RCV000347548|RCV000405619|RCV000391322|RCV000713174|RCV001511350; | N | MedGen: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|Med | 2 | 167056337 | 167056337 | C | A | 2:g.167056337C>A | ClinGen:CA155136 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr) | 6335 | SCN9A | Uncertain significance | rs754401649 | RCV001056658|RCV001535457; | N | 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, Orphanet:46348; MONDO | 2 | 167056371 | 167056371 | A | G | 2:g.167056371A>G | - | | |
NM_001365536.1(SCN9A):c.4774+16T>A | 6335 | SCN9A | Benign | rs10180721 | RCV000242590|RCV001709540|RCV001807161|RCV001807159|RCV001807160|RCV002058130; | N | MedGen: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|MON | 2 | 167060449 | 167060449 | A | T | NC_000002.11:g.167060449A>T | ClinGen:CA1943793 | CN169374 not specified; | |
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs202084411 | RCV000219331|RCV000307783|RCV000415823|RCV001134461|RCV001086552|RCV001134462; | N | MedGen: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:001347 | 2 | 167060594 | 167060594 | A | G | NC_000002.11:g.167060594A>G | ClinGen:CA1943813 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.4503+8_4503+9insT | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs767624579 | RCV000262360|RCV000277287|RCV000311295|RCV000319882|RCV000369517|RCV000372277|RCV000368712|RCV000647819; | N | MONDO: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: | 2 | 167060861 | 167060862 | T | TA | NC_000002.11:g.167060861_167060862insA | ClinGen:CA1943848 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs187558439 | RCV000261220|RCV000283499|RCV000291970|RCV000383965|RCV000728379|RCV001421504; | N | MONDO: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|MON | 2 | 167060878 | 167060878 | G | T | NC_000002.11:g.167060878G>T | ClinGen:CA1943856 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) | 6335 | SCN9A | Uncertain significance | rs1693696549 | RCV001134463|RCV001134464|RCV001135932; | N | 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 | 2 | 167060932 | 167060932 | A | G | 2:g.167060932A>G | - | | |
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) | 6335 | SCN9A | Uncertain significance | rs886055050 | RCV000344529|RCV000352792|RCV000295569|RCV000353982|RCV000299172|RCV000404016|RCV000391544; | N | MedGen: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: | 2 | 167060934 | 167060936 | TTTC | T | NC_000002.11:g.167060935TCT[1] | ClinGen:CA10612802 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile) | 6335 | SCN9A | Pathogenic | rs121908915 | RCV000006733; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167060949 | 167060949 | G | A | 2:g.167060949G>A | ClinGen:CA118155,OMIM:603415.0013 | C1833661 167400 Paroxysmal extreme pain disorder; | |
NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val) | 6335 | SCN9A | Pathogenic | rs1553474394 | RCV000656132; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167060956 | 167060956 | A | C | 2:g.167060956A>C | ClinGen:CA349058409 | C1833661 167400 Paroxysmal extreme pain disorder; | |
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) | 6335 | SCN9A | Pathogenic | rs121908914 | RCV000006732; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167060958 | 167060958 | A | G | 2:g.167060958A>G | OMIM:603415.0012,ClinGen:CA118152 | C1833661 167400 Paroxysmal extreme pain disorder; | |
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) | 6335 | SCN9A | Pathogenic | rs121908914 | RCV000656133; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167060958 | 167060958 | A | T | 2:g.167060958A>T | ClinGen:CA349058419 | C1833661 167400 Paroxysmal extreme pain disorder; | |
NM_001365536.1(SCN9A):c.4399-10_4399-7del | 6335 | SCN9A | Benign | rs77944059 | RCV000153913|RCV000264835|RCV000359605|RCV000360774|RCV000405665|RCV000713172|RCV001513086|RCV001807104|RCV001807103; | N | MedGen: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:201300 | 2 | 167060981 | 167060984 | GAAAC | G | 2:g.167060981_167060984del | ClinGen:CA180415 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4399-14G>T | 6335 | SCN9A | Benign/Likely benign | rs112927502 | RCV000242065|RCV000296393|RCV000325659|RCV000386082|RCV000351334|RCV002058128; | N | MedGen: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|MON | 2 | 167060988 | 167060988 | C | A | NC_000002.11:g.167060988C>A | ClinGen:CA1943876 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) | 6335 | SCN9A | Benign/Likely benign | rs149346064 | RCV000303154|RCV000338178|RCV000357979|RCV000391816|RCV000366144|RCV000762060|RCV001081992; | N | MedGen: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|Med | 2 | 167083160 | 167083160 | C | T | 2:g.167083160C>T | ClinGen:CA1943896 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs188336294 | RCV000245570|RCV000274820|RCV000269220|RCV000329912|RCV000363811|RCV000724788|RCV001084236; | N | MedGen: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|Med | 2 | 167083161 | 167083161 | G | A | 2:g.167083161G>A | ClinGen:CA242438 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) | 6335 | SCN9A | Uncertain significance | rs1413202256 | RCV001062488|RCV001535657; | N | 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, Orphanet:46348; MONDO | 2 | 167085279 | 167085279 | A | G | 2:g.167085279A>G | - | | |
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys) | 6335 | SCN9A | Uncertain significance | rs866428752 | RCV001128933|RCV001128934|RCV001128935|RCV001856680; | N | 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|MONDO:MONDO:0024309,MedGen:C2752089 | 2 | 167085308 | 167085308 | G | A | 2:g.167085308G>A | - | | |
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs202235611 | RCV000276112|RCV000340680|RCV000376885|RCV000375646|RCV000412791|RCV000647772|RCV001001973; | N | MONDO: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|MON | 2 | 167085463 | 167085463 | A | G | 2:g.167085463A>G | ClinGen:CA1943972 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) | 6335 | SCN9A | Pathogenic | rs121908913 | RCV000006731|RCV000691966|RCV001090456; | N | 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:36387|MedGen:CN517202 | 2 | 167085479 | 167085479 | C | A | 2:g.167085479C>A | ClinGen:CA118149,OMIM:603415.0011 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) | 6335 | SCN9A | Pathogenic | rs121908911 | RCV000006729; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167085481 | 167085481 | A | T | 2:g.167085481A>T | ClinGen:CA118143,OMIM:603415.0009 | C1833661 167400 Paroxysmal extreme pain disorder; | |
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe) | 6335 | SCN9A | Pathogenic | rs121908912 | RCV000006730; | N | MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167085482 | 167085482 | C | A | 2:g.167085482C>A | ClinGen:CA118146,OMIM:603415.0010 | C1833661 167400 Paroxysmal extreme pain disorder; | |
NM_001365536.1(SCN9A):c.3925-13T>C | 6335 | SCN9A | Uncertain significance | rs886055051 | RCV000341978|RCV000287096|RCV000347951|RCV000406343; | N | MONDO: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:90026 | 2 | 167085495 | 167085495 | A | G | NC_000002.11:g.167085495A>G | ClinGen:CA10611653 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs180922748 | RCV000176193|RCV000260317|RCV000276938|RCV000367768|RCV000354077|RCV000487601|RCV000655984|RCV001084299; | N | MedGen: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|Med | 2 | 167089942 | 167089942 | G | C | 2:g.167089942G>C | ClinGen:CA201841 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3802-4A>G | 6335 | SCN9A | Benign | rs75230218 | RCV000118304|RCV000266266|RCV000291623|RCV000286080|RCV000380369|RCV000713171|RCV001511351; | N | MedGen: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|Med | 2 | 167089976 | 167089976 | T | C | 2:g.167089976T>C | ClinGen:CA155131 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3802-8T>C | 6335 | SCN9A | Benign | rs76550960 | RCV000118305|RCV000311716|RCV000346519|RCV000356696|RCV000393830|RCV000461731|RCV001636670; | N | MedGen: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|MON | 2 | 167089980 | 167089980 | A | G | 2:g.167089980A>G | ClinGen:CA155132 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs202047865 | RCV000261894|RCV000267598|RCV000268698|RCV000322675|RCV001697825|RCV000556960; | N | 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|MedGen:CN517202|MON | 2 | 167094604 | 167094604 | A | G | NC_000002.11:g.167094604A>G | ClinGen:CA1944009 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs141268327 | RCV000176065|RCV000328939|RCV000335798|RCV000383539|RCV000389147|RCV000422016|RCV000714848|RCV000714847|RCV000768312|RCV001080021; | N | MedGen: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|MON | 2 | 167094638 | 167094638 | T | C | 2:g.167094638T>C | ClinGen:CA201784 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) | 6335 | SCN9A | Uncertain significance | rs886055052 | RCV000337267|RCV000302176|RCV000408353|RCV000391769; | N | 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:C3276706 | 2 | 167094651 | 167094651 | T | C | NC_000002.11:g.167094651T>C | ClinGen:CA10612526 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs144941725 | RCV000274659|RCV000328181|RCV000368900|RCV000362906|RCV000724409|RCV001082326; | N | 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|MedGen:CN517202|MON | 2 | 167094721 | 167094721 | A | G | 2:g.167094721A>G | ClinGen:CA241933 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) | 6335 | SCN9A | Benign | rs77144869 | RCV000118302|RCV000278050|RCV000283760|RCV000316847|RCV000388896|RCV000460944|RCV001618279; | N | MedGen: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|MON | 2 | 167094730 | 167094730 | G | T | 2:g.167094730G>T | ClinGen:CA155128 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) | 6335 | SCN9A | Uncertain significance | rs370455223 | RCV000309601|RCV000312648|RCV000344487|RCV000287148|RCV000366314|RCV000406524|RCV000391416|RCV000552252; | N | MONDO: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:C3 | 2 | 167099142 | 167099142 | C | T | NC_000002.11:g.167099142C>T | ClinGen:CA1944037 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs759003928 | RCV000541916|RCV000778570|RCV001129049|RCV001129048|RCV001811060; | N | MONDO: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|MON | 2 | 167099157 | 167099157 | C | T | 2:g.167099157C>T | ClinGen:CA1944039 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr) | 6335 | SCN9A | Uncertain significance | rs1018959938 | RCV001131732|RCV001131731|RCV001132738|RCV001297092; | N | 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|MONDO:MONDO:0024309,MedGen:C2752089 | 2 | 167099163 | 167099163 | C | T | 2:g.167099163C>T | - | | |
NM_001365536.1(SCN9A):c.3472+14T>C | 6335 | SCN9A | Benign/Likely benign | rs201979079 | RCV000277664|RCV000319396|RCV000354906|RCV000376405|RCV002057584; | N | MONDO: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:0024309 | 2 | 167108261 | 167108261 | A | G | NC_000002.11:g.167108261A>G | ClinGen:CA1944052 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) | 6335 | SCN9A | Uncertain significance | rs750839038 | RCV000265329|RCV000287562|RCV000291462|RCV000303336|RCV000322717|RCV000344772|RCV000379641|RCV000383041|RCV000802058; | N | MedGen: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:MONDO | 2 | 167108283 | 167108283 | A | T | 2:g.167108283A>T | ClinGen:CA1944055 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200160858 | RCV000249295|RCV000527962|RCV001132739|RCV001132741|RCV001132740|RCV001824712; | N | MedGen: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,Or | 2 | 167108345 | 167108345 | C | A | 2:g.167108345C>A | ClinGen:CA1944069 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile) | 6335 | SCN9A | Uncertain significance | rs765384427 | RCV000821630|RCV001136145|RCV001136146|RCV001132742; | N | MONDO: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,Orpha | 2 | 167108359 | 167108359 | C | T | 2:g.167108359C>T | - | | |
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs141040985 | RCV000298492|RCV000313804|RCV000393826|RCV000393834|RCV001861135; | N | MedGen: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:0024309 | 2 | 167108379 | 167108379 | C | T | NC_000002.11:g.167108379C>T | ClinGen:CA1944075 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) | 6335 | SCN9A | Benign/Likely benign | rs74401238 | RCV000118300|RCV000264601|RCV000268136|RCV000303417|RCV000360377|RCV000476760|RCV000755628; | N | MedGen: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|MON | 2 | 167108385 | 167108385 | C | T | 2:g.167108385C>T | ClinGen:CA155125 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201984007 | RCV000293562|RCV000329282|RCV000335564|RCV000388955|RCV000647806; | N | MedGen: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:0024309 | 2 | 167128917 | 167128917 | T | C | NC_000002.11:g.167128917T>C | ClinGen:CA1944092 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr) | 6335 | SCN9A | Uncertain significance | rs774490843 | RCV001129165|RCV001129164|RCV001129166; | N | 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 | 2 | 167128988 | 167128988 | A | G | 2:g.167128988A>G | - | | |
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) | 6335 | SCN9A | Uncertain significance | rs886055053 | RCV000300449|RCV000339988|RCV000403203|RCV000407069|RCV001850784; | N | MONDO: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:0024309 | 2 | 167128995 | 167128995 | C | T | NC_000002.11:g.167128995C>T | ClinGen:CA10611655 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs188145203 | RCV000308517|RCV000330258|RCV000333798|RCV000368610|RCV000478443|RCV000865153|RCV001705501; | N | 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:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MedGen:CN169374|MON | 2 | 167129240 | 167129240 | C | T | NC_000002.11:g.167129240C>T | ClinGen:CA1944153 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs121908910 | RCV000006728|RCV000559164|RCV001559739; | N | 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:36387|MedGen:CN517202 | 2 | 167129241 | 167129241 | G | A | 2:g.167129241G>A | ClinGen:CA118140,OMIM:603415.0008 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs4369876 | RCV000080039|RCV000284177|RCV000375717|RCV000389941|RCV000469131|RCV000490436|RCV000992915; | N | MedGen: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,M | 2 | 167129256 | 167129256 | C | A | 2:g.167129256C>A | ClinGen:CA147606,OMIM:603415.0025,ClinVar:441531 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs199692186 | RCV000118298|RCV000222414|RCV000313714|RCV000366834|RCV000391228|RCV000391236|RCV000655986|RCV001080160; | N | MedGen: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, | 2 | 167129258 | 167129258 | T | C | 2:g.167129258T>C | ClinGen:CA231497 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) | 6335 | SCN9A | Uncertain significance | rs886055054 | RCV000320749|RCV000355704|RCV000370748|RCV000377883; | N | 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, Orphanet:970 | 2 | 167129344 | 167129344 | A | G | NC_000002.11:g.167129344A>G | ClinGen:CA10611656 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2875-5del | 6335 | SCN9A | Benign/Likely benign | rs774840081 | RCV000285680|RCV000281873|RCV000289335|RCV000346674|RCV000324494|RCV000381351|RCV000400182|RCV001511361; | N | MedGen: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: | 2 | 167129390 | 167129390 | TA | T | NC_000002.11:g.167129390del | ClinGen:CA1944169 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2875-6A>G | 6335 | SCN9A | Benign/Likely benign | rs760470229 | RCV000297000|RCV000312086|RCV000393499|RCV000393515|RCV002057585; | N | MONDO: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:0024309 | 2 | 167129391 | 167129391 | T | C | NC_000002.11:g.167129391T>C | ClinGen:CA1944171 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2874+13del | 6335 | SCN9A | Benign | rs200434162 | RCV000268373|RCV000272306|RCV000308433|RCV000323457|RCV002057586; | N | MedGen: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:36387 | 2 | 167133480 | 167133480 | AT | A | NC_000002.11:g.167133480del | ClinGen:CA10612806 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201890077 | RCV000295204|RCV000320092|RCV000350156|RCV000374784|RCV000870579; | N | MedGen: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:0024309 | 2 | 167133515 | 167133515 | A | G | NC_000002.11:g.167133515A>G | ClinGen:CA1944195 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs202152511 | RCV000479461|RCV000700015|RCV001535622; | N | MedGen: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,Orph | 2 | 167133648 | 167133648 | G | A | 2:g.167133648G>A | ClinGen:CA1944214 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.2517+6C>T | 6335 | SCN9A | Benign/Likely benign | rs145316463 | RCV000310654|RCV000266516|RCV000302754|RCV000361097|RCV000418875|RCV001718701|RCV000470795; | N | MONDO: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|Med | 2 | 167134644 | 167134644 | G | A | NC_000002.11:g.167134644G>A | ClinGen:CA1944260 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200185692 | RCV000262836|RCV000333422|RCV000373036|RCV000387938|RCV000868455; | N | MONDO: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:0024309 | 2 | 167134671 | 167134671 | T | G | NC_000002.11:g.167134671T>G | ClinGen:CA1944266 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs41268671 | RCV000285786|RCV000344215|RCV000402179|RCV000384589|RCV000498158|RCV001086993|RCV001332207; | N | MedGen: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|MON | 2 | 167134706 | 167134706 | C | T | 2:g.167134706C>T | ClinGen:CA1944268 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) | 6335 | SCN9A | Benign/Likely benign | rs201890240 | RCV000355550|RCV000300749|RCV000370491|RCV000391453|RCV000431378|RCV001079375; | N | MedGen: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|MON | 2 | 167134730 | 167134730 | T | C | NC_000002.11:g.167134730T>C | ClinGen:CA1944275 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) | 6335 | SCN9A | Benign/Likely benign | rs149707354 | RCV000174878|RCV000272219|RCV000327341|RCV000288445|RCV000366775|RCV000513798|RCV001085147|RCV001197520; | N | MedGen: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|Med | 2 | 167134775 | 167134775 | T | C | 2:g.167134775T>C | ClinGen:CA201201 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs182650126 | RCV000144932|RCV000218739|RCV000281545|RCV000284837|RCV000398464|RCV000416064|RCV000986925|RCV001083229|RCV001094589; | N | MedGen: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,Or | 2 | 167136962 | 167136962 | T | C | 2:g.167136962T>C | ClinGen:CA171007,OMIM:603415.0027 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val) | 6335 | SCN9A | Uncertain significance | rs201744417 | RCV001136364|RCV001132927|RCV001132928|RCV001856715; | N | 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|MONDO:MONDO:0024309,MedGen:C2752089 | 2 | 167136970 | 167136970 | T | A | 2:g.167136970T>A | - | | |
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His) | 6335 | SCN9A | Uncertain significance | rs1486841808 | RCV001136367|RCV001136366|RCV001136365; | N | 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 | 2 | 167136971 | 167136971 | C | G | 2:g.167136971C>G | - | | |
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200945460 | RCV000023302|RCV000118297|RCV000191125|RCV000311897|RCV000393721|RCV000476046|RCV001546748; | N | 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|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348|MON | 2 | 167137018 | 167137018 | A | T | 2:g.167137018A>T | ClinGen:CA129149,OMIM:603415.0023 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) | 6335 | SCN9A | Benign/Likely benign | rs202055175 | RCV000244421|RCV000266453|RCV000281599|RCV000514405|RCV000326970|RCV000361155|RCV001084258; | N | MedGen: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|Med | 2 | 167137020 | 167137020 | C | G | 2:g.167137020C>G | ClinGen:CA1944311 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) | 6335 | SCN9A | Benign/Likely benign | rs187526567 | RCV000293618|RCV000348584|RCV000372662|RCV001088445|RCV000387999|RCV000430400; | N | MONDO: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,O | 2 | 167137045 | 167137045 | A | G | NC_000002.11:g.167137045A>G | ClinGen:CA1944317 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2105-14C>T | 6335 | SCN9A | Benign | rs6432893 | RCV000153916|RCV000264427|RCV000305661|RCV000309027|RCV000345278|RCV001596978|RCV002056045; | N | MedGen: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|Med | 2 | 167137119 | 167137119 | G | A | 2:g.167137119G>A | ClinGen:CA180416 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.2105-15G>A | 6335 | SCN9A | Benign | rs4525717 | RCV000153917|RCV000263173|RCV000275871|RCV000385556|RCV000372890|RCV001707538|RCV002056046; | N | MedGen: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|Med | 2 | 167137120 | 167137120 | C | T | 2:g.167137120C>T | ClinGen:CA180417 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) | 6335 | SCN9A | Uncertain significance | rs369989247 | RCV000795381|RCV001132096|RCV001133027|RCV001132095; | N | MONDO: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,Orpha | 2 | 167138295 | 167138295 | C | G | 2:g.167138295C>G | - | | |
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200014315 | RCV000302532|RCV000344915|RCV000384201|RCV000345922|RCV000726836|RCV001087572; | N | 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, Orphanet:970|MedGen:CN517202|MON | 2 | 167138313 | 167138313 | C | T | NC_000002.11:g.167138313C>T | ClinGen:CA1944369 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) | 6335 | SCN9A | Benign/Likely benign | rs200671761 | RCV000336874|RCV000335619|RCV000376217|RCV000401672|RCV000529731; | N | MONDO: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:0024309 | 2 | 167141099 | 167141099 | G | A | 2:g.167141099G>A | ClinGen:CA1944422 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201318927 | RCV000269144|RCV000326582|RCV000367169|RCV000392642|RCV000555830; | N | MONDO: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:0024309 | 2 | 167141144 | 167141144 | C | T | 2:g.167141144C>T | ClinGen:CA1944429 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200876333 | RCV000282063|RCV000294925|RCV000374225|RCV000372990|RCV000867415|RCV001491805; | N | 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|MedGen:CN517202|MON | 2 | 167141224 | 167141224 | G | A | 2:g.167141224G>A | ClinGen:CA10611677 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs199748300 | RCV000293514|RCV000346132|RCV000363472|RCV000401490|RCV000493503|RCV000688718; | N | MedGen: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|MON | 2 | 167141318 | 167141318 | C | T | 2:g.167141318C>T | ClinGen:CA1944463 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1603-21dup | 6335 | SCN9A | Benign/Likely benign | rs200430382 | RCV000266043|RCV000318934|RCV000357336|RCV000358460|RCV002057587; | N | MedGen: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:36387 | 2 | 167141347 | 167141348 | T | TA | 2:g.167141347_167141348insA | ClinGen:CA1944472 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs777699798 | RCV000289493|RCV000381650|RCV000390435|RCV000400251|RCV000695710; | N | MONDO: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:0024309 | 2 | 167142966 | 167142966 | C | A | 2:g.167142966C>A | ClinGen:CA1944501 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) | 6335 | SCN9A | Benign/Likely benign | rs58022607 | RCV000118294|RCV000274821|RCV000296851|RCV000314578|RCV000366951|RCV000472690|RCV001705856; | N | MedGen: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|MON | 2 | 167142979 | 167142979 | C | T | 2:g.167142979C>T | ClinGen:CA155113,UniProtKB:Q15858#VAR_064602 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200682458 | RCV000283366|RCV000342995|RCV000378848|RCV000378922|RCV000726661|RCV001083458; | N | MONDO: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|MON | 2 | 167142984 | 167142984 | G | A | 2:g.167142984G>A | ClinGen:CA1944503 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) | 6335 | SCN9A | Benign/Likely benign | rs201531206 | RCV000153920|RCV000279783|RCV000334731|RCV000349722|RCV000398826|RCV000762063|RCV001083995; | N | MedGen: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|Med | 2 | 167143050 | 167143050 | G | A | 2:g.167143050G>A | ClinGen:CA180419 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201990547 | RCV000269918|RCV000306280|RCV000321651|RCV000369264|RCV000545934; | N | MONDO: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,M | 2 | 167143101 | 167143101 | A | G | 2:g.167143101A>G | ClinGen:CA1944523 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) | 6335 | SCN9A | Benign | rs6747673 | RCV000118293|RCV000267710|RCV000282544|RCV000292831|RCV000318943|RCV000713164|RCV001521207; | N | MedGen: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|Med | 2 | 167144974 | 167144974 | A | T | 2:g.167144974A>T | ClinGen:CA155110 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200415928 | RCV000463481|RCV000768079|RCV001755714; | N | 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, Orphanet:88642,Orp | 2 | 167144984 | 167144984 | A | T | NC_000002.11:g.167144984A>T | ClinGen:CA1944559 | C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7; | |
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) | 6335 | SCN9A | Benign | rs13402180 | RCV000118292|RCV000344725|RCV000352364|RCV000359549|RCV000399562|RCV000713163|RCV001521208; | N | MedGen: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|Med | 2 | 167144995 | 167144995 | T | C | 2:g.167144995T>C | ClinGen:CA155107 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs199986805 | RCV000260488|RCV000306043|RCV000315687|RCV000356412|RCV000647753|RCV001770266; | N | MONDO: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:0024309 | 2 | 167145053 | 167145053 | A | G | 2:g.167145053A>G | ClinGen:CA1944567 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) | 6335 | SCN9A | Uncertain significance | rs746956041 | RCV000347465|RCV000295918|RCV000330998|RCV000385527|RCV001582974|RCV001239239; | N | 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:CN239438|MedGen:CN517202|MON | 2 | 167145054 | 167145054 | T | G | NC_000002.11:g.167145054T>G | ClinGen:CA10612824 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) | 6335 | SCN9A | Benign | rs58465962 | RCV000118291|RCV000304547|RCV000339602|RCV000396461|RCV000400533|RCV000471210|RCV001711287; | N | MedGen: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|MON | 2 | 167145106 | 167145106 | C | A | 2:g.167145106C>A | ClinGen:CA155104 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs188798505 | RCV000270280|RCV000273654|RCV000299739|RCV000368455; | N | MONDO: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:46348 | 2 | 167145122 | 167145122 | A | T | NC_000002.11:g.167145122A>T | ClinGen:CA1944577 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) | 6335 | SCN9A | Benign | rs13414203 | RCV000118290|RCV000271006|RCV000286417|RCV000341529|RCV000372805|RCV000713162|RCV001521209; | N | MedGen: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|Med | 2 | 167145142 | 167145142 | A | G | 2:g.167145142A>G | ClinGen:CA155101 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1107+48C>T | 6335 | SCN9A | Benign | -1 | RCV001807561|RCV001807559|RCV001807560; | N | 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 | 2 | 167149693 | 167149693 | G | A | 167149693 | - | | |
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) | 6335 | SCN9A | Uncertain significance | rs886055055 | RCV000278940|RCV000312807|RCV000348950|RCV001225009|RCV000399817; | N | MONDO: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:C275177 | 2 | 167149754 | 167149754 | T | C | NC_000002.11:g.167149754T>C | ClinGen:CA10612539 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) | 6335 | SCN9A | Uncertain significance | rs886055056 | RCV000266284|RCV000321126|RCV000363869|RCV000380393; | N | MONDO: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 | 2 | 167149834 | 167149834 | A | C | NC_000002.11:g.167149834A>C | ClinGen:CA10611247 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs765818027 | RCV001134712|RCV001134711|RCV001214418|RCV001134710; | N | MONDO: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,Orp | 2 | 167149868 | 167149868 | C | T | 2:g.167149868C>T | - | | |
NM_001365536.1(SCN9A):c.965+13T>C | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs772337722 | RCV000280489|RCV000317791|RCV000349425|RCV000385347|RCV000436811|RCV002057588; | N | 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|MedGen:CN169374|MON | 2 | 167151096 | 167151096 | A | G | NC_000002.11:g.167151096A>G | ClinGen:CA1944626 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.688+13T>C | 6335 | SCN9A | Benign | rs74449889 | RCV000243099|RCV000302315|RCV000350736|RCV000389992|RCV000397088|RCV002055798; | N | MedGen: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|MON | 2 | 167160735 | 167160735 | A | G | 2:g.167160735A>G | ClinGen:CA293428 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs755653914 | RCV000318402|RCV000356819|RCV000353484|RCV000398853|RCV001205873; | N | MedGen: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,M | 2 | 167160751 | 167160751 | G | T | NC_000002.11:g.167160751G>T | ClinGen:CA1944733 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.596+25C>T | 6335 | SCN9A | Benign | -1 | RCV001807563|RCV001807562|RCV001807564; | N | 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 | 2 | 167162277 | 167162277 | G | A | 167162277 | - | | |
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) | 6335 | SCN9A | Benign/Likely benign | rs73969684 | RCV000144931|RCV000144930|RCV000178871|RCV000382273|RCV000331310|RCV000421273|RCV001081785; | N | MONDO: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|Med | 2 | 167162344 | 167162344 | C | T | NC_000002.11:g.167162344C>T | ClinGen:CA171004,OMIM:603415.0026 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) | 6335 | SCN9A | Benign | rs9646771 | RCV000118307|RCV000283990|RCV000297056|RCV000341457|RCV000400502|RCV000713173|RCV001520808; | N | MedGen: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|Med | 2 | 167163043 | 167163043 | T | C | 2:g.167163043T>C | ClinGen:CA155133 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) | 6335 | SCN9A | Uncertain significance | rs199824489 | RCV000235689|RCV000276463|RCV000270542|RCV000333786|RCV000311734|RCV000693754; | N | MedGen: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|MON | 2 | 167163549 | 167163549 | G | T | 2:g.167163549G>T | ClinGen:CA1944831 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) | 6335 | SCN9A | Uncertain significance | rs747265095 | RCV000322499|RCV000287405|RCV000335392|RCV000373624; | N | MONDO: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 | 2 | 167163569 | 167163569 | T | A | NC_000002.11:g.167163569T>A | ClinGen:CA10612832 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) | 6335 | SCN9A | Uncertain significance | rs768587771 | RCV001129827|RCV001129828|RCV001129829; | N | 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 | 2 | 167168029 | 167168029 | G | A | 2:g.167168029G>A | - | | |
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200240989 | RCV000281460|RCV000312180|RCV000337865|RCV000400747|RCV000535545|RCV001577710; | N | MONDO: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:0024309 | 2 | 167168054 | 167168054 | C | T | NC_000002.11:g.167168054C>T | ClinGen:CA1944867 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) | 6335 | SCN9A | Benign | rs6432901 | RCV000118295|RCV000310588|RCV000323339|RCV000380181|RCV000363455|RCV000713166|RCV001514399; | N | 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|MedGen:C3276706|Med | 2 | 167168093 | 167168093 | C | T | 2:g.167168093C>T | ClinGen:CA155116 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200826539 | RCV000295951|RCV000349888|RCV000374375|RCV000388140|RCV000546843|RCV001699462; | N | 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, Orphanet:970|MONDO:MONDO:0024309 | 2 | 167168138 | 167168138 | A | G | NC_000002.11:g.167168138A>G | ClinGen:CA1944883 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) | 6335 | SCN9A | Uncertain significance | rs200709311 | RCV001133442|RCV001133440|RCV001133441|RCV001856719; | N | 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|MONDO:MONDO:0024309,MedGen:C2752089 | 2 | 167168194 | 167168194 | G | T | 2:g.167168194G>T | - | | |
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) | 6335 | SCN9A | Likely benign | rs267607030 | RCV000006742|RCV000302710|RCV000309032|RCV000402111|RCV000532835; | N | 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|MONDO:MONDO:0024309 | 2 | 167168238 | 167168238 | T | C | 2:g.167168238T>C | ClinGen:CA253850,UniProtKB:Q15858#VAR_064595,OMIM:603415.0022 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.-31G>A | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs200780217 | RCV001133443|RCV001134931; | N | MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348 | 2 | 167168297 | 167168297 | C | T | 2:g.167168297C>T | - | | |
NM_001365536.1(SCN9A):c.-42T>C | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201915876 | RCV001134932|RCV001134933|RCV001134934; | N | 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 | 2 | 167168308 | 167168308 | A | G | 2:g.167168308A>G | - | | |
NM_001365536.1(SCN9A):c.-92G>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs569406301 | RCV001129912|RCV001134935|RCV001134936; | N | 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 | 2 | 167232248 | 167232248 | C | A | 2:g.167232248C>A | - | | |
NM_001365536.1(SCN9A):c.-126G>C | 6335 | SCN9A | Uncertain significance | rs200099565 | RCV000261895|RCV000267599|RCV000354249|RCV000386107; | N | 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 | 2 | 167232282 | 167232282 | C | G | NC_000002.11:g.167232282C>G | ClinGen:CA10611678 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.-277C>T | 6335 | SCN9A | Conflicting interpretations of pathogenicity | rs201445594 | RCV000291679|RCV000326648|RCV000332653|RCV000389564; | N | 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 | 2 | 167232433 | 167232433 | G | A | NC_000002.11:g.167232433G>A | ClinGen:CA10612542 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.-283G>C | 6335 | SCN9A | Benign/Likely benign | rs191091185 | RCV000286040|RCV000299163|RCV000396347|RCV000401223; | N | 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 | 2 | 167232439 | 167232439 | C | G | NC_000002.11:g.167232439C>G | ClinGen:CA10611250 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.-290T>C | 6335 | SCN9A | Benign | rs148362057 | RCV000275464|RCV000276939|RCV000325020|RCV000330524; | N | 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 | 2 | 167232446 | 167232446 | A | G | NC_000002.11:g.167232446A>G | ClinGen:CA10612544 | C0002768 Congenital Indifference to Pain; | |
NM_001365536.1(SCN9A):c.-294T>C | 6335 | SCN9A | Benign/Likely benign | rs141521157 | RCV000341898|RCV000281178|RCV000317620|RCV000375745; | N | 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 | 2 | 167232450 | 167232450 | A | G | NC_000002.11:g.167232450A>G | ClinGen:CA10611251 | C0002768 Congenital Indifference to Pain; | |
NM_002977.3(SCN9A):c.-307G>T | 6335 | SCN9A | Benign | rs1881440 | RCV000283404|RCV000307802|RCV000393243|RCV000399426; | N | MONDO: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:970 | 2 | 167232463 | 167232463 | C | A | NC_000002.11:g.167232463C>A | ClinGen:CA10612545 | C0002768 Congenital Indifference to Pain; | |
NM_002977.3(SCN9A):c.-324C>T | 6335 | SCN9A | Uncertain significance | rs201905758 | RCV000260424|RCV000355253|RCV000315688|RCV000379640; | N | MONDO: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 | 2 | 167232480 | 167232480 | G | A | NC_000002.11:g.167232480G>A | ClinGen:CA10612549 | C0002768 Congenital Indifference to Pain; | |
NM_002977.3(SCN9A):c.-324C>A | 6335 | SCN9A | Uncertain significance | rs201905758 | RCV001133563|RCV001133564|RCV001135051; | N | 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 | 2 | 167232480 | 167232480 | G | T | 2:g.167232480G>T | - | | |
NM_002977.3(SCN9A):c.-339G>C | 6335 | SCN9A | Uncertain significance | rs886055057 | RCV000266719|RCV000291293|RCV000296489|RCV000321772; | N | 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, Orphanet:970 | 2 | 167232495 | 167232495 | C | G | NC_000002.11:g.167232495C>G | ClinGen:CA10612557 | C0002768 Congenital Indifference to Pain; | |
NM_002977.3(SCN9A):c.-348G>C | 6335 | SCN9A | Uncertain significance | rs1051254799 | RCV001135054|RCV001135052|RCV001135053; | N | 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 | 2 | 167232504 | 167232504 | C | G | 2:g.167232504C>G | - | | |