MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Pain (D010146)
..Starting node ..Paroxysmal Extreme Pain Disorder (C563475)
Child Nodes:
Sister Nodes:
..Abdominal Pain (D015746) 4
..Acute Pain (D059787)
..Arthralgia (D018771) 1
..Back Pain (D001416) 2
..Breakthrough Pain (D059390)
..Cancer Pain (D000072716)
..Chest Pain (D002637) 7
..Chronic Pain (D059350)
..Earache (D004433)
..EPISODIC PAIN SYNDROME, FAMILIAL, 1 (OMIM:615040)
..EPISODIC PAIN SYNDROME, FAMILIAL, 2 (OMIM:615551)
..EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)
..Eye Pain (D058447)
..Facial Pain (D005157) 1
..Flank Pain (D021501)
..Glossalgia (D005926)
..Headache (D006261) 2
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..Labor Pain (D048949)
..Levator syndrome (C535890)
..Mastodynia (D059373)
..Metatarsalgia (D037061)
..Musculoskeletal Pain (D059352) 2
..Neck Pain (D019547)
..Neuralgia (D009437) 6
..Neuropathy, Painful (C564945)
..Nociceptive Pain (D059226) 1
..Pain, Intractable (D010148)
..Pain, Postoperative (D010149) 1
..Pain, Procedural (D000073818)
..Pain, Referred (D053591)
..Paroxysmal Extreme Pain Disorder (C563475)
..Pelvic Pain (D017699) 4
..Renal Colic (D056844)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9583

Name:

Paroxysmal Extreme Pain Disorder

Definition:

Alternative IDs:

OMIM:167400

ParentIDs:

MESH:D010146

TreeNumbers:

C23.888.592.612/C563475

Synonyms:

Slim Mappings:

Signs and symptoms

Reference:

MedGen: C563475
MeSH: C563475
OMIM: 167400;
MSeqDR :
Genes: SCN9A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003623	Neonatal onset
3	HP:0500005	Anal pain
4	HP:0001662	Bradycardia
5	HP:0007328	Impaired pain sensation
6	HP:0000632	Lacrimation abnormality
7	HP:0200025	Mandibular pain
8	HP:0200026	Ocular pain
9	HP:0001649	Tachycardia

Disease Causing ClinVar Variants

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	RCV001134930\|RCV001134928\|RCV001134929;	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	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	RCV000295071\|RCV000346675\|RCV000385957\|RCV000389431;	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\|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	RCV000261600\|RCV000301676\|RCV000341523\|RCV000356580;	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	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	RCV001133562\|RCV001133561\|RCV001133560;	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	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\|RCV000380022\|RCV000383549\|RCV000397721;	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	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	RCV000298332\|RCV000311164\|RCV000337355\|RCV000401648;	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	167052328	167052328	A	G	2:g.167052328A>G	ClinGen:CA10611585
NM_001365536.1(SCN9A):c.*2744del	6335	SCN9A	Uncertain significance	rs763459885	RCV000269917\|RCV000271243\|RCV000322694\|RCV000328465\|RCV000362135\|RCV000368073\|RCV000377051;	N	MedGen:C3276706\|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:C0002768\|MedGen:CN239438\|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387\|MONDO:MONDO:0100135,MedGen:	2	167052438	167052438	AG	A	2:g.167052438_167052438del	ClinGen:CA10612499
NM_001365536.1(SCN9A):c.*2729C>A	6335	SCN9A	Uncertain significance	rs1313840276	RCV001130028\|RCV001135049\|RCV001135050;	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	167052453	167052453	G	T	2:g.167052453G>T	-
NM_001365536.1(SCN9A):c.*2721C>G	6335	SCN9A	Benign/Likely benign	rs199595958	RCV000279132\|RCV000284860\|RCV000336598\|RCV000395211;	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:C3276706	2	167052461	167052461	G	C	2:g.167052461G>C	ClinGen:CA10611216
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	RCV000308394\|RCV000348882\|RCV000366288\|RCV000395215;	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	167052520	167052520	C	T	2:g.167052520C>T	ClinGen:CA10611586
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	2:g.167052542C>T	ClinGen:CA10612500
NM_001365536.1(SCN9A):c.2616_2626del	6335	SCN9A	Benign	rs145255931	RCV000292544\|RCV000291307\|RCV000331992\|RCV000344114\|RCV000349801\|RCV000383338\|RCV000388899;	N	MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387\|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069\|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:C3276	2	167052556	167052566	CTTAAAAAAGTT	C	2:g.167052556_167052566del	ClinGen:CA10611221
NM_001365536.1(SCN9A):c.*2540C>T	6335	SCN9A	Benign	rs58249489	RCV000304471\|RCV000357066\|RCV000393187\|RCV000400219;	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	167052642	167052642	G	A	2:g.167052642G>A	ClinGen:CA10611225
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	2:g.167052838G>A	ClinGen:CA10612763
NM_001365536.1(SCN9A):c.*2323G>T	6335	SCN9A	Benign/Likely benign	rs142172527	RCV000288613\|RCV000341064\|RCV000379593\|RCV000399016;	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	2	167052859	167052859	C	A	2:g.167052859C>A	ClinGen:CA10611591
NM_001365536.1(SCN9A):c.*2312A>T	6335	SCN9A	Benign/Likely benign	rs185580193	RCV000301270\|RCV000312641\|RCV000371364\|RCV000400656;	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	167052870	167052870	T	A	2:g.167052870T>A	ClinGen:CA10612766
NM_001365536.1(SCN9A):c.*2297A>T	6335	SCN9A	Benign	rs75345520	RCV000267308\|RCV000324675\|RCV000325935\|RCV000376947;	N	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	2	167052885	167052885	T	A	2:g.167052885T>A	ClinGen:CA10611594
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	2:g.167052954C>A	ClinGen:CA10612767
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	2:g.167052956A>C	ClinGen:CA10612501
NM_001365536.1(SCN9A):c.*2222T>C	6335	SCN9A	Uncertain significance	rs199958892	RCV000259724\|RCV000264461\|RCV000293690\|RCV000374165;	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	167052960	167052960	A	G	2:g.167052960A>G	ClinGen:CA10612508
NM_001365536.1(SCN9A):c.*2212T>C	6335	SCN9A	Benign/Likely benign	rs200750861	RCV000294861\|RCV000330013\|RCV000346169\|RCV000344969;	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	167052970	167052970	A	G	2:g.167052970A>G	ClinGen:CA10611226
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	2:g.167052991C>T	ClinGen:CA10612768
NM_001365536.1(SCN9A):c.*2155G>A	6335	SCN9A	Benign/Likely benign	rs77565541	RCV000277964\|RCV000313073\|RCV000329498\|RCV000367797;	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	167053027	167053027	C	T	2:g.167053027C>T	ClinGen:CA10611595
NM_001365536.1(SCN9A):c.*2154C>G	6335	SCN9A	Benign	rs17804037	RCV000286111\|RCV000284995\|RCV000339869\|RCV000336414;	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	167053028	167053028	G	C	2:g.167053028G>C	ClinGen:CA10612769
NM_001365536.1(SCN9A):c.*2146G>C	6335	SCN9A	Benign	rs1062844	RCV000275838\|RCV000300570\|RCV000307597\|RCV000311197;	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	167053036	167053036	C	G	2:g.167053036C>G	ClinGen:CA10612509
NM_001365536.1(SCN9A):c.*2136C>G	6335	SCN9A	Benign	rs77050817	RCV000272494\|RCV000324264\|RCV000362498\|RCV000378866;	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	167053046	167053046	G	C	2:g.167053046G>C	ClinGen:CA10612774
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	2:g.167053104G>A	ClinGen:CA10612775
NM_001365536.1(SCN9A):c.1960_1962dup	6335	SCN9A	Likely benign	rs202073550	RCV000301570\|RCV000309914\|RCV000345173\|RCV000361186\|RCV000364626\|RCV000397034\|RCV000399974;	N	MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069\|MedGen:CN239438\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:C3276706\|MedGen:C0002768\|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387\|MONDO:MONDO:00	2	167053219	167053220	C	CCAA	2:g.167053219_167053220insCAA	ClinGen:CA10611596
NM_001365536.1(SCN9A):c.*1815T>C	6335	SCN9A	Uncertain significance	rs202203220	RCV001135334\|RCV001135335\|RCV001135333;	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	167053367	167053367	A	G	2:g.167053367A>G	-
NM_001365536.1(SCN9A):c.*1796C>T	6335	SCN9A	Benign	rs16851751	RCV000263670\|RCV000266558\|RCV000316954\|RCV000318792;	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	167053386	167053386	G	A	2:g.167053386G>A	ClinGen:CA10611227
NM_001365536.1(SCN9A):c.*1774G>A	6335	SCN9A	Benign	rs114843828	RCV000289218\|RCV000334156\|RCV000388679\|RCV000404015;	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	167053408	167053408	C	T	2:g.167053408C>T	ClinGen:CA10611597
NM_001365536.1(SCN9A):c.*1770A>C	6335	SCN9A	Uncertain significance	rs200353065	RCV000274588\|RCV000297830\|RCV000306019\|RCV000394677;	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	167053412	167053412	T	G	2:g.167053412T>G	ClinGen:CA10612512
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\|RCV000327593\|RCV000329620\|RCV000380829;	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	167053522	167053522	C	T	2:g.167053522C>T	ClinGen:CA10611604
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	RCV000266349\|RCV000272305\|RCV000320323\|RCV000324018;	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	167053577	167053577	A	G	2:g.167053577A>G	ClinGen:CA10612777
NM_001365536.1(SCN9A):c.*1605del	6335	SCN9A	Benign	rs148459420	RCV000268985\|RCV000300920\|RCV000313771\|RCV000397647;	N	MedGen:C3276706\|MedGen:CN239438\|MedGen:C0002768\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348	2	167053577	167053577	TA	T	2:g.167053577_167053577del	ClinGen:CA10612778
NM_001365536.1(SCN9A):c.*1492C>G	6335	SCN9A	Benign	rs73017542	RCV000279508\|RCV000306954\|RCV000351500\|RCV000386213;	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	2	167053690	167053690	G	C	2:g.167053690G>C	ClinGen:CA10612779
NM_001365536.1(SCN9A):c.*1434dup	6335	SCN9A	Likely benign	rs199505193	RCV000305048\|RCV000310372\|RCV000358620\|RCV000345421;	N	MedGen:C0002768\|MedGen:CN239438\|MedGen:C3276706\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348	2	167053747	167053748	G	GA	2:g.167053747_167053748insA	ClinGen:CA10612783
NM_001365536.1(SCN9A):c.*1422T>C	6335	SCN9A	Uncertain significance	rs1693272137	RCV001133955\|RCV001133954\|RCV001133953;	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	167053760	167053760	A	G	2:g.167053760A>G	-
NM_001365536.1(SCN9A):c.*1417A>G	6335	SCN9A	Uncertain significance	rs201120940	RCV001135468\|RCV001135466\|RCV001135467;	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	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\|RCV000294479\|RCV000317706\|RCV000374662;	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	167053825	167053825	G	A	2:g.167053825G>A	ClinGen:CA10611607
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	2:g.167053998A>C	ClinGen:CA10612517
NM_001365536.1(SCN9A):c.1118_1119insCA	6335	SCN9A	Benign	rs140616949	RCV000274983\|RCV000305824\|RCV000353605\|RCV000357016;	N	MedGen:C0002768\|MedGen:C3276706\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:CN239438	2	167054063	167054064	T	TTG	2:g.167054063_167054064insTG	ClinGen:CA10612786
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	2:g.167054168C>T	ClinGen:CA10611608
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	2:g.167054169G>A	ClinGen:CA10611612
NM_001365536.1(SCN9A):c.*958C>T	6335	SCN9A	Benign/Likely benign	rs143727895	RCV000311196\|RCV000315200\|RCV000327960\|RCV000368823;	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:CN239438	2	167054224	167054224	G	A	2:g.167054224G>A	ClinGen:CA10611619
NM_001365536.1(SCN9A):c.*948G>A	6335	SCN9A	Uncertain significance	rs201415802	RCV000264600\|RCV000268608\|RCV000316755\|RCV000322461;	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	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	RCV001135591\|RCV001135590\|RCV001135592;	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	167054347	167054347	G	T	2:g.167054347G>T	-
NM_001365536.1(SCN9A):c.*798dup	6335	SCN9A	Benign	rs564394161	RCV000261231\|RCV000297667\|RCV000301763\|RCV000346098\|RCV000358954\|RCV000361680\|RCV000396968;	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	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	RCV000293873\|RCV000299664\|RCV000348745\|RCV000403917;	N	MedGen:C0002768\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:CN239438\|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	RCV000279059\|RCV000284797\|RCV000340056\|RCV000343463\|RCV000373230\|RCV000403273\|RCV000405702;	N	MedGen:CN239438\|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210\|MedGen:C3276706\|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS60	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	2:g.167054765_167054766insA	ClinGen:CA10612791
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\|RCV001130515\|RCV001130516;	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	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	2:g.167054805G>C	ClinGen:CA10612520
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	2:g.167054934_167054935insAATC	ClinGen:CA10611235
NM_001365536.1(SCN9A):c.*237C>G	6335	SCN9A	Benign	rs16851755	RCV000305126\|RCV000367053\|RCV000354513\|RCV000397107;	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	167054945	167054945	G	C	2:g.167054945G>C	ClinGen:CA10612522
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	RCV000271371\|RCV000326375\|RCV000384302\|RCV000380985;	N	MedGen:CN239438\|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	167054947	167054947	A	G	2:g.167054947A>G	ClinGen:CA10612793
NM_001365536.1(SCN9A):c.*226A>C	6335	SCN9A	Uncertain significance	rs886055048	RCV000298681\|RCV000338385\|RCV000351399\|RCV000405091;	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	167054956	167054956	T	G	2:g.167054956T>G	ClinGen:CA10612523
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	2:g.167054965C>T	ClinGen:CA10612794
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	2:g.167054978C>T	ClinGen:CA10611628
NM_001365536.1(SCN9A):c.165_167dup	6335	SCN9A	Uncertain significance	rs886055049	RCV000286011\|RCV000303556\|RCV000346695\|RCV000343213\|RCV000373492\|RCV000404787\|RCV000405664;	N	MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233, Orphanet:36387\|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069\|MedGen:C3276706\|MedGen:C0002768\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:CN239438\|MONDO:MONDO:00	2	167055014	167055015	C	CCAT	2:g.167055014_167055015insCAT	ClinGen:CA10611644
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	RCV000274793\|RCV000306861\|RCV000314833\|RCV000363911;	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	2	167055053	167055053	G	A	2:g.167055053G>A	ClinGen:CA10612525
NM_001365536.1(SCN9A):c.*125C>T	6335	SCN9A	Benign/Likely benign	rs200465050	RCV000286282\|RCV000320298\|RCV000378872\|RCV000377270;	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	167055057	167055057	G	A	2:g.167055057G>A	ClinGen:CA10611239
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	2:g.167055058T>C	ClinGen:CA10611647
NM_001365536.1(SCN9A):c.*18A>G	6335	SCN9A	Benign/Likely benign	rs150401869	RCV000324549\|RCV000354679\|RCV000358522\|RCV000403477;	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	167055164	167055164	T	C	2:g.167055164T>C	ClinGen:CA1943585
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\|RCV000327080\|RCV000288513\|RCV000385041\|RCV000442067\|RCV001082772;	N	MedGen:CN169374\|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\|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\|RCV000469934\|RCV000299018\|RCV000348238\|RCV000406081\|RCV000407719;	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	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\|RCV000390843\|RCV000359398\|RCV000514151\|RCV001080948;	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:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|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	RCV001128823\|RCV001128824\|RCV001128825\|RCV001232710;	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	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	2:g.167055770C>T	ClinGen:CA1943686
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs372210358	RCV001128826\|RCV001131478\|RCV001131477;	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	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.4923T>C (p.Leu1641=)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs199550149	RCV000118310\|RCV000240565\|RCV001131479\|RCV001131481\|RCV001086623\|RCV001131480;	N	MedGen:CN169374\|MedGen:CN517202\|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,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,M	2	167056226	167056226	A	G	2:g.167056226A>G	ClinGen:CA155139	C2751777 613863 Generalized epilepsy with febrile seizures plus, type 7;
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\|RCV000391322\|RCV000405619\|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\|MedGen:CN239438\|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|Med	2	167056337	167056337	C	A	2:g.167056337C>A	ClinGen:CA155136	C0002768 Congenital Indifference to Pain;
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	2:g.167060594A>G	ClinGen:CA1943813
NM_001365536.1(SCN9A):c.4503+8_4503+9insT	6335	SCN9A	Conflicting interpretations of pathogenicity	rs767624579	RCV000262360\|RCV000277287\|RCV000311295\|RCV000319882\|RCV000369517\|RCV000368712\|RCV000372277\|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:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069\|MONDO:MONDO:00	2	167060861	167060862	T	TA	2:g.167060861_167060862insA	ClinGen:CA1943848
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	2:g.167060878G>T	ClinGen:CA1943856
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=)	6335	SCN9A	Uncertain significance	rs1558945594	RCV000768311;	N	MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348; MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577,	2	167060891	167060891	T	C	2:g.167060891T>C	-
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.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	ClinGen:CA118152,OMIM:603415.0012	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\|RCV000405665\|RCV000360774\|RCV000713172\|RCV001513086;	N	MedGen:CN169374\|MedGen:CN239438\|MedGen:C3276706\|MedGen:C0002768\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:CN517202\|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,O	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\|RCV000351334\|RCV000386082;	N	MedGen:CN169374\|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	167060988	167060988	C	A	2:g.167060988C>A	ClinGen:CA1943876
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)	6335	SCN9A	Benign/Likely benign	rs149346064	RCV000303154\|RCV000338178\|RCV000357979\|RCV000366144\|RCV000391816\|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\|MedGen:CN169374\|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|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	RCV000274820\|RCV000269220\|RCV000245570\|RCV000329912\|RCV000363811\|RCV000724788\|RCV001084236;	N	MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|MedGen:CN239438\|MedGen:CN169374\|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.4099C>T (p.Arg1367Cys)	6335	SCN9A	Uncertain significance	rs866428752	RCV001128933\|RCV001128934\|RCV001128935;	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	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:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970\|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	RCV000287096\|RCV000347951\|RCV000341978\|RCV000406343;	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	2	167085495	167085495	A	G	2:g.167085495A>G	ClinGen:CA10611653
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs180922748	RCV000176193\|RCV000260317\|RCV000276938\|RCV000354077\|RCV000367768\|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\|MedGen:CN239438\|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|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\|RCV000286080\|RCV000291623\|RCV000380369\|RCV000713171\|RCV001511351;	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: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\|RCV000556960\|RCV001697825;	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\|MONDO:MONDO:0013470	2	167094604	167094604	A	G	2:g.167094604A>G	ClinGen:CA1944009
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs141268327	RCV000176065\|RCV000328939\|RCV000335798\|RCV000383539\|RCV000389147\|RCV000422016\|RCV000714847\|RCV000714848\|RCV000768312\|RCV001080021\|RCV001283289;	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	RCV000302176\|RCV000337267\|RCV000391769\|RCV000408353;	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	167094651	167094651	T	C	2:g.167094651T>C	ClinGen:CA10612526
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs144941725	RCV000362906\|RCV000328181\|RCV000274659\|RCV000368900\|RCV000724409\|RCV001082326;	N	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\|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	RCV000287148\|RCV000309601\|RCV000312648\|RCV000344487\|RCV000366314\|RCV000391416\|RCV000406524\|RCV000552252;	N	MedGen:C3276706\|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:CN239438\|MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS60	2	167099142	167099142	C	T	2:g.167099142C>T	ClinGen:CA1944037
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)	6335	SCN9A	Uncertain significance	rs1018959938	RCV001131731\|RCV001131732\|RCV001132738\|RCV001297092;	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	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;	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	167108261	167108261	A	G	2:g.167108261A>G	ClinGen:CA1944052
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;	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:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970\|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;	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	2	167108379	167108379	C	T	2:g.167108379C>T	ClinGen:CA1944075
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)	6335	SCN9A	Benign/Likely benign	rs74401238	RCV000118300\|RCV000264601\|RCV000268136\|RCV000303417\|RCV000360377\|RCV000476760\|RCV000755628\|RCV001283175;	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\|RCV000335564\|RCV000329282\|RCV000388955\|RCV000647806;	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\|MONDO:MONDO:0024309	2	167128917	167128917	T	C	2:g.167128917T>C	ClinGen:CA1944092
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\|RCV000407069\|RCV000403203;	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\|MedGen:C3276706	2	167128995	167128995	C	T	2:g.167128995C>T	ClinGen:CA10611655
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs200560768	RCV000476670\|RCV001131848\|RCV001131847\|RCV001131849;	N	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970; MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387\|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Or	2	167129093	167129093	T	C	2:g.167129093T>C	ClinGen:CA1944130
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	2:g.167129240C>T	ClinGen:CA1944153
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:0013470,MedGen:C2751778,OMIM:613863, Orphanet:36387; MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300, Orphanet:970\|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\|RCV000389941\|RCV000284177\|RCV000375717\|RCV000490436\|RCV000469131\|RCV000992915\|RCV001282508;	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	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\|RCV000391236\|RCV000391228\|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\|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970\|Med	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	2:g.167129344A>G	ClinGen:CA10611656
NM_001365536.1(SCN9A):c.2875-5del	6335	SCN9A	Benign/Likely benign	rs774840081	RCV000285680\|RCV000281873\|RCV000289335\|RCV000324494\|RCV000346674\|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:CN239438\|MedGen:C3276706\|MONDO:MONDO:0000032,MedGen:CN239386,OMIM:PS121210\|MONDO:MONDO:0100135,MedGen:	2	167129390	167129390	TA	T	2:g.167129390_167129390del	ClinGen:CA1944169
NM_001365536.1(SCN9A):c.2875-6A>G	6335	SCN9A	Benign/Likely benign	rs760470229	RCV000297000\|RCV000312086\|RCV000393499\|RCV000393515;	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	167129391	167129391	T	C	2:g.167129391T>C	ClinGen:CA1944171
NM_001365536.1(SCN9A):c.2874+13del	6335	SCN9A	Benign	rs200434162	RCV000268373\|RCV000272306\|RCV000308433\|RCV000323457;	N	MedGen:C0002768\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:C3276706\|MedGen:CN239438	2	167133480	167133480	AT	A	2:g.167133480_167133480del	ClinGen:CA10612806
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	2:g.167133515A>G	ClinGen:CA1944195
NM_001365536.1(SCN9A):c.2517+6C>T	6335	SCN9A	Benign/Likely benign	rs145316463	RCV000266516\|RCV000302754\|RCV000310654\|RCV000361097\|RCV000418875\|RCV000470795\|RCV001718701;	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	167134644	167134644	G	A	2:g.167134644G>A	ClinGen:CA1944260
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	2:g.167134671T>G	ClinGen:CA1944266
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs41268671	RCV000285786\|RCV000384589\|RCV000402179\|RCV000344215\|RCV000498158\|RCV001086993\|RCV001332207;	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\|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	RCV000300749\|RCV000355550\|RCV000370491\|RCV000391453\|RCV000431378\|RCV001079375;	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	167134730	167134730	T	C	2:g.167134730T>C	ClinGen:CA1944275
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)	6335	SCN9A	Benign/Likely benign	rs149707354	RCV000174878\|RCV000288445\|RCV000272219\|RCV000327341\|RCV000366775\|RCV000513798\|RCV001085147\|RCV001197520;	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	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	RCV001132927\|RCV001132928\|RCV001136364;	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	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\|RCV000361155\|RCV000326970\|RCV000514405\|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:CN239438\|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\|RCV000387999\|RCV000430400\|RCV001088445;	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\|MedGen:CN517202\|MON	2	167137045	167137045	A	G	2:g.167137045A>G	ClinGen:CA1944317
NM_001365536.1(SCN9A):c.2105-14C>T	6335	SCN9A	Benign	rs6432893	RCV000153916\|RCV000264427\|RCV000305661\|RCV000309027\|RCV000345278\|RCV001596978;	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\|RCV000275871\|RCV000263173\|RCV000372890\|RCV000385556\|RCV001707538;	N	MedGen:CN169374\|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\|Med	2	167137120	167137120	C	T	2:g.167137120C>T	ClinGen:CA180417	C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs200014315	RCV000302532\|RCV000344915\|RCV000345922\|RCV000384201\|RCV001087572\|RCV000726836;	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\|MONDO:MONDO:0013470	2	167138313	167138313	C	T	2:g.167138313C>T	ClinGen:CA1944369
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\|RCV000372990\|RCV000374225\|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\|MedGen:C3276706\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|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	Likely benign	rs200430382	RCV000266043\|RCV000318934\|RCV000358460\|RCV000357336;	N	MedGen:CN239438\|MedGen:C3276706\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:C0002768	2	167141347	167141348	T	TA	2:g.167141347_167141348insA	ClinGen:CA1944472	C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs187453572	RCV000290806\|RCV000277449\|RCV000348148\|RCV000388718\|RCV000468717\|RCV000723961\|RCV000781948\|RCV001332206;	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\|MONDO:MONDO:0024309	2	167142893	167142893	C	T	2:g.167142893C>T	ClinGen:CA239538,UniProtKB:Q15858#VAR_064603	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\|RCV001283273\|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\|RCV000378922\|RCV000378848\|RCV000726661\|RCV001083458;	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\|MedGen:CN239438\|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\|RCV001282839;	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\|RCV000318943\|RCV000282544\|RCV000292831\|RCV000713164\|RCV001521207;	N	MedGen:CN169374\|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\|Med	2	167144974	167144974	A	T	2:g.167144974A>T	ClinGen:CA155110	C0002768 Congenital Indifference to Pain;
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	RCV000295918\|RCV000330998\|RCV000347465\|RCV000385527\|RCV001239239\|RCV001582974;	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\|MONDO:MONDO:0024309	2	167145054	167145054	T	G	2:g.167145054T>G	ClinGen:CA10612824
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)	6335	SCN9A	Benign	rs58465962	RCV000118291\|RCV000304547\|RCV000339602\|RCV000396461\|RCV000400533\|RCV000471210\|RCV001283274\|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	2:g.167145122A>T	ClinGen:CA1944577
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)	6335	SCN9A	Benign	rs13414203	RCV000118290\|RCV000271006\|RCV000286417\|RCV000372805\|RCV000341529\|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\|MedGen:CN239438\|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|Med	2	167145142	167145142	A	G	2:g.167145142A>G	ClinGen:CA155101	C0002768 Congenital Indifference to Pain;
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser)	6335	SCN9A	Uncertain significance	rs886055055	RCV000278940\|RCV000312807\|RCV000348950\|RCV000399817\|RCV001225009;	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\|MONDO:MONDO:0024309	2	167149754	167149754	T	C	2:g.167149754T>C	ClinGen:CA10612539
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	2:g.167149834A>C	ClinGen:CA10611247
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)	6335	SCN9A	Conflicting interpretations of pathogenicity	rs765818027	RCV001134712\|RCV001134710\|RCV001134711\|RCV001214418;	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	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;	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	2	167151096	167151096	A	G	2:g.167151096A>G	ClinGen:CA1944626
NM_001365536.1(SCN9A):c.688+13T>C	6335	SCN9A	Benign	rs74449889	RCV000243099\|RCV000302315\|RCV000350736\|RCV000389992\|RCV000397088;	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	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	2:g.167160751G>T	ClinGen:CA1944733
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)	6335	SCN9A	Benign/Likely benign	rs73969684	RCV000144930\|RCV000144931\|RCV000178871\|RCV000331310\|RCV000382273\|RCV000421273\|RCV001081785\|RCV001287640;	N	MedGen:C3276706\|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400, Orphanet:46348\|MedGen:CN169374\|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000, Orphanet:88642, Orphanet:970\|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020, Orphanet:306577, Orphanet:90026\|Med	2	167162344	167162344	C	T	2:g.167162344C>T	ClinGen:CA171004,OMIM:603415.0026
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\|RCV000270542\|RCV000311734\|RCV000276463\|RCV000333786\|RCV000693754;	N	MedGen:CN517202\|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\|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	RCV000287405\|RCV000322499\|RCV000335392\|RCV000373624;	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	167163569	167163569	T	A	2:g.167163569T>A	ClinGen:CA10612832
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	2:g.167168054C>T	ClinGen:CA1944867
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)	6335	SCN9A	Benign	rs6432901	RCV000118295\|RCV000323339\|RCV000310588\|RCV000380181\|RCV000363455\|RCV000713166\|RCV001514399;	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\|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:0013470	2	167168138	167168138	A	G	2:g.167168138A>G	ClinGen:CA1944883
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys)	6335	SCN9A	Uncertain significance	rs200709311	RCV001133440\|RCV001133441\|RCV001133442;	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	167168194	167168194	G	T	2:g.167168194G>T	-
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg)	6335	SCN9A	Likely benign	rs267607030	RCV000006742\|RCV000309032\|RCV000402111\|RCV000302710\|RCV000532835;	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\|MONDO:MONDO:0013470	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	RCV001134933\|RCV001134934\|RCV001134932;	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	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	2:g.167232282C>G	ClinGen:CA10611678
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	2:g.167232433G>A	ClinGen:CA10612542
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	2:g.167232439C>G	ClinGen:CA10611250
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	2:g.167232446A>G	ClinGen:CA10612544
NM_001365536.1(SCN9A):c.-294T>C	6335	SCN9A	Benign/Likely benign	rs141521157	RCV000281178\|RCV000317620\|RCV000341898\|RCV000375745;	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	167232450	167232450	A	G	2:g.167232450A>G	ClinGen:CA10611251
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	2:g.167232463C>A	ClinGen:CA10612545
NM_002977.3(SCN9A):c.-324C>T	6335	SCN9A	Uncertain significance	rs201905758	RCV000260424\|RCV000315688\|RCV000355253\|RCV000379640;	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	167232480	167232480	G	A	2:g.167232480G>A	ClinGen:CA10612549
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	2:g.167232495C>G	ClinGen:CA10612557
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	-

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