Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His)	SNV Germline	Chr2:166277251	Pathogenic	Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Single Submitter	CA340542	rs_80356475	3 SubmittersRCV000006721 RCV002512849
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)	SNV Germline	Chr2:166277281	Pathogenic	Primary erythromelalgia Acute episodes of neuropathic symptoms Abnormality of pain sensation Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A SCN9A-related peripheral neuropathies associated with increased pain Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340545	rs_80356474	9 SubmittersRCV000006722 RCV001004018 RCV001067998 RCV001270748 RCV001781194
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)	SNV Germline	Chr2:166303270	Conflicting classifications of pathogenicity	Primary erythromelalgia	No Assertion Criteria Provided	CA340548	rs_80356470	3 SubmittersRCV000006723
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val)	SNV Germline	Chr2:166226587	Pathogenic	Primary erythromelalgia	No Assertion Criteria Provided	CA340551	rs_80356478	2 SubmittersRCV000006724
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe)	SNV Unknown	Chr2:166277252	Pathogenic	Primary erythromelalgia	No Assertion Criteria Provided	CA340554	rs_80356476	2 SubmittersRCV000006736
NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)	SNV Germline	Chr2:166304279	Pathogenic	Primary erythromelalgia	No Assertion Criteria Provided	CA340557	rs_80356469	2 SubmittersRCV000006737
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)	SNV Germline	Chr2:166284506	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Primary erythromelalgia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA118164	rs_121908918	5 SubmittersRCV000006738 RCV000557785 RCV001535456 RCV002408454
NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg)	SNV Unknown	Chr2:166278156	Likely pathogenic	Primary erythromelalgia	Criteria Provided Single Submitter	CA341933	rs_80356473	2 SubmittersRCV000020512
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)	SNV Germline	Chr2:166272746	Conflicting classifications of pathogenicity	not specified Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Small fiber neuropathy Primary erythromelalgia Condition: not provided	Criteria Provided Conflicting Classifications	CA147606	rs_4369876	13 SubmittersRCV000080039 RCV000284177 RCV000389941 RCV000469131 RCV000375717 RCV000490436 RCV000992915
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)	SNV Germline	Chr2:166272748	Conflicting classifications of pathogenicity	Condition: not provided Paroxysmal extreme pain disorder Small fiber neuropathy not specified Self-limited epilepsy with centrotemporal spikes Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231497	rs_199692186	15 SubmittersRCV000118298 RCV000313714 RCV000391228 RCV000222414 RCV000655986 RCV000391236 RCV000366834 RCV001080160 RCV002433611
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	SNV Germline	Chr2:166238128	Conflicting classifications of pathogenicity	not specified Primary erythromelalgia Inherited Erythromelalgia Severe myoclonic epilepsy in infancy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 7 Hereditary ataxia	Criteria Provided Conflicting Classifications	CA201784	rs_141268327	19 SubmittersRCV000176065 RCV000714847 RCV000389147 RCV000328939 RCV000335798 RCV000383539 RCV000422016 RCV000714848 RCV001080021 RCV002345422 RCV003224155 RCV005252107 RCV005625298
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)	SNV Germline	Chr2:166199716	Conflicting classifications of pathogenicity	not specified Condition: not provided Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA155139	rs_199550149	8 SubmittersRCV000118310 RCV000240565 RCV001131479 RCV001131481 RCV001086623 RCV001131480 RCV002336258
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)	SNV Germline	Chr2:166280452	Conflicting classifications of pathogenicity	Small fiber neuropathy not specified Inherited Erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Inborn genetic diseases SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA171007	rs_182650126	14 SubmittersRCV000144932 RCV000218739 RCV000281545 RCV000284837 RCV000398464 RCV000416064 RCV000986925 RCV001083229 RCV001094589 RCV002415629 RCV004532638
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)	SNV Germline	Chr2:166286383	Conflicting classifications of pathogenicity	Small fiber neuropathy Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Seizure Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 not specified Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA239538	rs_187453572	13 SubmittersRCV000277449 RCV000388718 RCV000468717 RCV000781948 RCV000723961 RCV001332206 RCV005406890 RCV000290806 RCV000348148 RCV002399622
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)	SNV Germline	Chr2:166238211	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Small fiber neuropathy Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 not specified	Criteria Provided Conflicting Classifications	CA241933	rs_144941725	5 SubmittersRCV000274659 RCV000328181 RCV000368900 RCV000362906 RCV000724409 RCV001082326 RCV005431520
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)	SNV Germline	Chr2:166233432	Conflicting classifications of pathogenicity	not specified Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Self-limited epilepsy with centrotemporal spikes Inherited Erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Primary erythromelalgia Condition: not provided	Criteria Provided Conflicting Classifications	CA201841	rs_180922748	14 SubmittersRCV000176193 RCV000260317 RCV000276938 RCV000655984 RCV000354077 RCV001084299 RCV002362895 RCV000367768 RCV000487601
NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln)	SNV Germline	Chr2:166228824	Conflicting classifications of pathogenicity	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA242197	rs_200163716	7 SubmittersRCV000176293 RCV000647757 RCV002321697 RCV005396533
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)	SNV Germline	Chr2:166226651	Conflicting classifications of pathogenicity	Inherited Erythromelalgia Primary erythromelalgia Paroxysmal extreme pain disorder not specified Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242438	rs_188336294	12 SubmittersRCV000269220 RCV000274820 RCV000363811 RCV000245570 RCV000329912 RCV001084236 RCV000724788 RCV002326962
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)	SNV Germline	Chr2:166304242	Conflicting classifications of pathogenicity	Condition: not provided not specified 6 conditions Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA206037	rs_71428908	16 SubmittersRCV000179414 RCV000192901 RCV000515449 RCV000540917 RCV001133337 RCV001133338 RCV001133339 RCV001195747 RCV004786493 RCV002362922 RCV005016524
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)	SNV Germline	Chr2:166198928	Conflicting classifications of pathogenicity	not specified Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy Primary erythromelalgia Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1943628	rs_79805025	5 SubmittersRCV000222397 RCV000270670 RCV000390843 RCV000271832 RCV000359398 RCV000514151 RCV001080948
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)	SNV Germline	Chr2:166278196	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Inherited Erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Condition: not provided Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944268	rs_41268671	6 SubmittersRCV000344215 RCV000285786 RCV000402179 RCV000384589 RCV000498158 RCV002450757 RCV001086993 RCV001332207
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)	SNV Germline	Chr2:166251835	Conflicting classifications of pathogenicity	not specified Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Primary erythromelalgia Condition: not provided	Criteria Provided Conflicting Classifications	CA1944069	rs_200160858	7 SubmittersRCV000249295 RCV001132739 RCV001132741 RCV001132740 RCV000527962 RCV002450776 RCV001824712 RCV003148696
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)	SNV Germline	Chr2:166286474	Conflicting classifications of pathogenicity	Primary erythromelalgia Inherited Erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Inborn genetic diseases not specified Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1944503	rs_200682458	11 SubmittersRCV000283366 RCV000378848 RCV000378922 RCV000342995 RCV002392820 RCV005238862 RCV000726661 RCV001083458 RCV004543151
NM_001365536.1(SCN9A):c.*3102C>T	SNV Germline	Chr2:166195570	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Inherited Erythromelalgia	Criteria Provided Conflicting Classifications	CA10611204	rs_182687583	1 SubmittersRCV000261410 RCV000304979 RCV000359735 RCV000320220
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)	SNV Germline	Chr2:166204368	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Inherited Erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1943856	rs_187558439	5 SubmittersRCV000261220 RCV000291970 RCV000283499 RCV000383965 RCV000728379 RCV002328850 RCV001421504 RCV004530325
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)	SNV Germline	Chr2:166281803	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Small fiber neuropathy Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944369	rs_200014315	8 SubmittersRCV000302532 RCV000384201 RCV000344915 RCV000345922 RCV001087572 RCV000726836 RCV002411224
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)	SNV Germline	Chr2:166311544	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Small fiber neuropathy Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1944867	rs_200240989	4 SubmittersRCV000281460 RCV000400747 RCV000312180 RCV000337865 RCV000535545 RCV002429295 RCV001577710
NM_001365536.1(SCN9A):c.*3426A>T	SNV Germline	Chr2:166195246	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Primary erythromelalgia Inherited Erythromelalgia	Criteria Provided Conflicting Classifications	CA10611582	rs_186838828	1 SubmittersRCV000273901 RCV000328915 RCV000324427 RCV000368490
NM_001365536.1(SCN9A):c.*1014G>A	SNV Germline	Chr2:166197658	Conflicting classifications of pathogenicity	Inherited Erythromelalgia Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA10611608	rs_200393413	1 SubmittersRCV000332342 RCV000291451 RCV000326355 RCV000370774
NM_001365536.1(SCN9A):c.*124A>G	SNV Germline	Chr2:166198548	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Inherited Erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA10611647	rs_201137748	1 SubmittersRCV000290226 RCV000347485 RCV000312811 RCV000288897
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn)	SNV Germline	Chr2:166251869	Conflicting classifications of pathogenicity	Inherited Erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944075	rs_141040985	2 SubmittersRCV000298492 RCV000313804 RCV000393826 RCV000393834 RCV001861135
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala)	SNV Germline	Chr2:166277005	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Primary erythromelalgia Small fiber neuropathy Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1944195	rs_201890077	4 SubmittersRCV000320092 RCV000350156 RCV000295204 RCV000870579 RCV000374784 RCV004659009 RCV004812316
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)	SNV Germline	Chr2:166284634	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Primary erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1944429	rs_201318927	4 SubmittersRCV000269144 RCV000326582 RCV000367169 RCV000392642 RCV000555830 RCV002402051 RCV003326412
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)	SNV Germline	Chr2:166284714	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Small fiber neuropathy	Criteria Provided Conflicting Classifications	CA10611677	rs_200876333	3 SubmittersRCV000294925 RCV000282063 RCV000374225 RCV001491805 RCV002402052 RCV000372990
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)	SNV Germline	Chr2:166284808	Conflicting classifications of pathogenicity	Primary erythromelalgia Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944463	rs_199748300	3 SubmittersRCV000346132 RCV000293514 RCV000363472 RCV000401490 RCV000493503 RCV000688718
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)	SNV Germline	Chr2:166288543	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Condition: not provided	Criteria Provided Conflicting Classifications	CA1944567	rs_199986805	3 SubmittersRCV000260488 RCV000306043 RCV000315687 RCV000647753 RCV000356412 RCV001770266
NM_001365536.1(SCN9A):c.*2226T>G	SNV Germline	Chr2:166196446	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Paroxysmal extreme pain disorder Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA10612501	rs_141310425	1 SubmittersRCV000304360 RCV000310155 RCV000362401 RCV000349576
NM_001365536.1(SCN9A):c.*785C>T	SNV Germline	Chr2:166197887	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy	Criteria Provided Conflicting Classifications	CA10612518	rs_181229506	1 SubmittersRCV000272894 RCV000327929 RCV000287909 RCV000382306
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)	SNV Germline	Chr2:166228953	Conflicting classifications of pathogenicity	Inherited Erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 not specified Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA1943972	rs_202235611	5 SubmittersRCV000340680 RCV000276112 RCV000375646 RCV000412791 RCV000647772 RCV001001973 RCV000376885
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)	SNV Germline	Chr2:166278161	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inherited Erythromelalgia Paroxysmal extreme pain disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944266	rs_200185692	3 SubmittersRCV000262836 RCV000373036 RCV000868455 RCV000333422 RCV000387938 RCV002450897
NM_001365536.1(SCN9A):c.965+13T>C	SNV Germline	Chr2:166294586	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder not specified Primary erythromelalgia Inherited Erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944626	rs_772337722	3 SubmittersRCV000280489 RCV000317791 RCV000436811 RCV000349425 RCV000385347 RCV002057588
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)	SNV Germline	Chr2:166311628	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Primary erythromelalgia Small fiber neuropathy Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inborn genetic diseases Condition: not provided SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1944883	rs_200826539	10 SubmittersRCV000295951 RCV000349888 RCV000374375 RCV000546843 RCV000388140 RCV002379219 RCV001699462 RCV004544609
NM_001365536.1(SCN9A):c.-277C>T	SNV Germline	Chr2:166375923	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Inherited Erythromelalgia Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA10612542	rs_201445594	1 SubmittersRCV000291679 RCV000326648 RCV000389564 RCV000332653
NM_001365536.1(SCN9A):c.*2344C>T	SNV Germline	Chr2:166196328	Conflicting classifications of pathogenicity	Inherited Erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10612763	rs_200962814	1 SubmittersRCV000277176 RCV000328652 RCV000369481 RCV000386663
NM_001365536.1(SCN9A):c.*2228G>T	SNV Germline	Chr2:166196444	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10612767	rs_200790957	1 SubmittersRCV000280565 RCV000371700 RCV000350580 RCV000396045
NM_001365536.1(SCN9A):c.*2191G>A	SNV Germline	Chr2:166196481	Conflicting classifications of pathogenicity	Primary erythromelalgia Small fiber neuropathy Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA10612768	rs_201184093	1 SubmittersRCV000342600 RCV000357374 RCV000394741 RCV000398622
NM_001365536.1(SCN9A):c.*2078C>T	SNV Germline	Chr2:166196594	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Primary erythromelalgia Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA10612775	rs_548072061	1 SubmittersRCV000279794 RCV000294797 RCV000402971 RCV000338316
NM_001365536.1(SCN9A):c.*669A>G	SNV Germline	Chr2:166198003	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Small fiber neuropathy	Criteria Provided Conflicting Classifications	CA10612787	rs_538508619	1 SubmittersRCV000271307 RCV000301733 RCV000390545 RCV000365812
NM_001365536.1(SCN9A):c.*217G>A	SNV Germline	Chr2:166198455	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Small fiber neuropathy	Criteria Provided Conflicting Classifications	CA10612794	rs_200625860	1 SubmittersRCV000264874 RCV000270973 RCV000310836 RCV000304876
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)	SNV Germline	Chr2:166199260	Conflicting classifications of pathogenicity	Primary erythromelalgia Inherited Erythromelalgia Paroxysmal extreme pain disorder not specified Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1943686	rs_201875421	4 SubmittersRCV000318343 RCV000332706 RCV000335912 RCV005238916 RCV000389535 RCV001428717 RCV002348074
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)	SNV Germline	Chr2:166238094	Conflicting classifications of pathogenicity	Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1944009	rs_202047865	4 SubmittersRCV000267598 RCV000261894 RCV000268698 RCV000322675 RCV000556960 RCV002348075 RCV001697825
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)	SNV Germline	Chr2:166272407	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Primary erythromelalgia Inborn genetic diseases Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA1944092	rs_201984007	5 SubmittersRCV000329282 RCV000335564 RCV002450896 RCV002472991 RCV000647806 RCV000293562 RCV000388955
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)	SNV Germline	Chr2:166272730	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy Paroxysmal extreme pain disorder Primary erythromelalgia not specified Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA1944153	rs_188145203	4 SubmittersRCV000333798 RCV000330258 RCV000368610 RCV000308517 RCV000478443 RCV000865153 RCV001705501
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)	SNV Germline	Chr2:166286456	Conflicting classifications of pathogenicity	Primary erythromelalgia Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Paroxysmal extreme pain disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944501	rs_777699798	3 SubmittersRCV000289493 RCV000390435 RCV000381650 RCV000695710 RCV000400251 RCV002392888
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn)	SNV Germline	Chr2:166288612	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA1944577	rs_188798505	1 SubmittersRCV000270280 RCV000273654 RCV000299739 RCV000368455
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)	SNV Germline	Chr2:166288474	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided Inborn genetic diseases Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Severe myoclonic epilepsy in infancy Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944559	rs_200415928	5 SubmittersRCV000463481 RCV001755714 RCV002446880 RCV003224294 RCV005252109
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)	SNV Germline	Chr2:166272583	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Inborn genetic diseases Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1944130	rs_200560768	5 SubmittersRCV001131847 RCV000476670 RCV001131848 RCV002323791 RCV001131849 RCV003332181 RCV005407135
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	SNV Germline	Chr2:166277138	Pathogenic/Likely pathogenic	Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA1944214	rs_202152511	5 SubmittersRCV000479461 RCV000700015 RCV001535622 RCV004023160
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)	SNV Germline	Chr2:166228754	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA59810250	rs_200610689	2 SubmittersRCV000540930 RCV001128930 RCV001128932 RCV001128931
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)	SNV Germline	Chr2:166242647	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Inborn genetic diseases Condition: not provided See cases Neuropathy, hereditary sensory and autonomic, type 2A Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA1944039	rs_759003928	7 SubmittersRCV001129048 RCV001129049 RCV002456195 RCV001811060 RCV002252165 RCV005357600
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)	SNV Germline	Chr2:166288641	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 not specified Inborn genetic diseases SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1944583	rs_202002028	7 SubmittersRCV001133249 RCV001133251 RCV001133250 RCV000835459 RCV001082565 RCV001700212 RCV002431670 RCV004543185
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)	SNV Germline	Chr2:166288553	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349085902	rs_1553491169	3 SubmittersRCV000647787 RCV001171363 RCV001311225
NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys)	SNV Germline	Chr2:166198935	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive not specified	Criteria Provided Conflicting Classifications	CA1943632	rs_200956485	4 SubmittersRCV000647756 RCV001329016 RCV005392234 RCV005431839
NM_001365536.1(SCN9A):c.822A>G (p.Lys274=)	SNV Germline	Chr2:166303169	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA1944654	rs_199784484	2 SubmittersRCV000647814 RCV001129710 RCV001129711 RCV001132421
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)	SNV Germline	Chr2:166288466	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus, type 7 Febrile seizures, familial, 1 Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944556	rs_763256222	4 SubmittersRCV000662199 RCV000662201 RCV000662200 RCV000662202 RCV001129582 RCV001855402 RCV002386134
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)	SNV Germline	Chr2:166303162	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944652	rs_121908916	3 SubmittersRCV000686365 RCV001129707 RCV001129709 RCV001129708 RCV002424587
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)	SNV Germline	Chr2:166198694	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA1943596	rs_199822303	7 SubmittersRCV000800311 RCV001134340 RCV001134341 RCV001134342 RCV001508456 RCV002352354 RCV003235403
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)	SNV Germline	Chr2:166199053	Conflicting classifications of pathogenicity	Condition: not provided Primary erythromelalgia Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA1943653	rs_199572382	3 SubmittersRCV000826990 RCV001135810 RCV001135811 RCV001088977 RCV001128822
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)	SNV Germline	Chr2:166199392	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1943702	rs_372210358	2 SubmittersRCV001128826 RCV001131478 RCV001131477 RCV002556817
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)	SNV Germline	Chr2:166242653	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA59814631	rs_1018959938	2 SubmittersRCV001131731 RCV001131732 RCV001132738 RCV001297092
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)	SNV Germline	Chr2:166293358	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944615	rs_765818027	2 SubmittersRCV001134711 RCV001134710 RCV001134712 RCV001214418
NM_001365536.1(SCN9A):c.-42T>C	SNV Germline	Chr2:166311798	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA1944918	rs_201915876	1 SubmittersRCV001134933 RCV001134934 RCV001134932
NM_001365536.1(SCN9A):c.-92G>T	SNV Germline	Chr2:166375738	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA59846963	rs_569406301	1 SubmittersRCV001129912 RCV001134935 RCV001134936
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)	SNV Germline	Chr2:166303290	Pathogenic	Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Single Submitter	CA349093253	rs_1698638581	2 SubmittersRCV001171362 RCV002558717
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)	SNV Germline	Chr2:166277210	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA1944226	rs_369148683	3 SubmittersRCV001325319 RCV002493700 RCV003135980
NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter)	SNV Unknown	Chr2:166303090	Likely pathogenic	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA349091597	rs_1553495048	2 SubmittersRCV001329018 RCV003448394
NM_001365536.1(SCN9A):c.2656C>G (p.Gln886Glu)	SNV Germline	Chr2:166277201	Likely pathogenic	Primary erythromelalgia	Criteria Provided Single Submitter	CA349077870	rs_2468003378	2 SubmittersRCV003148413

NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His)

SNV
Germline

Chr2:166277251

Pathogenic

Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Single Submitter

CA340542

rs_80356475

3 SubmittersRCV000006721 RCV002512849

NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)

SNV
Germline

Chr2:166277281

Pathogenic

Primary erythromelalgia
Acute episodes of neuropathic symptoms
Abnormality of pain sensation
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
SCN9A-related peripheral neuropathies associated with increased pain
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340545

rs_80356474

9 SubmittersRCV000006722 RCV001004018 RCV001067998 RCV001270748 RCV001781194

NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)

SNV
Germline

Chr2:166303270

Conflicting classifications of pathogenicity

Primary erythromelalgia

No Assertion Criteria Provided

CA340548

rs_80356470

3 SubmittersRCV000006723

NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val)

SNV
Germline

Chr2:166226587

Pathogenic

Primary erythromelalgia

No Assertion Criteria Provided

CA340551

rs_80356478

2 SubmittersRCV000006724

NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe)

SNV
Unknown

Chr2:166277252

Pathogenic

Primary erythromelalgia

No Assertion Criteria Provided

CA340554

rs_80356476

2 SubmittersRCV000006736

NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)

SNV
Germline

Chr2:166304279

Pathogenic

Primary erythromelalgia

No Assertion Criteria Provided

CA340557

rs_80356469

2 SubmittersRCV000006737

NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)

SNV
Germline

Chr2:166284506

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Primary erythromelalgia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA118164

rs_121908918

5 SubmittersRCV000006738 RCV000557785 RCV001535456 RCV002408454

NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg)

SNV
Unknown

Chr2:166278156

Likely pathogenic

Primary erythromelalgia

Criteria Provided
Single Submitter

CA341933

rs_80356473

2 SubmittersRCV000020512

NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)

SNV
Germline

Chr2:166272746

Conflicting classifications of pathogenicity

not specified
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Small fiber neuropathy
Primary erythromelalgia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147606

rs_4369876

13 SubmittersRCV000080039 RCV000284177 RCV000389941 RCV000469131 RCV000375717 RCV000490436 RCV000992915

NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)

SNV
Germline

Chr2:166272748

Conflicting classifications of pathogenicity

Condition: not provided
Paroxysmal extreme pain disorder
Small fiber neuropathy
not specified
Self-limited epilepsy with centrotemporal spikes
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231497

rs_199692186

15 SubmittersRCV000118298 RCV000313714 RCV000391228 RCV000222414 RCV000655986 RCV000391236 RCV000366834 RCV001080160 RCV002433611

NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)

SNV
Germline

Chr2:166238128

Conflicting classifications of pathogenicity

not specified
Primary erythromelalgia
Inherited Erythromelalgia
Severe myoclonic epilepsy in infancy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 7
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA201784

rs_141268327

19 SubmittersRCV000176065 RCV000714847 RCV000389147 RCV000328939 RCV000335798 RCV000383539 RCV000422016 RCV000714848 RCV001080021 RCV002345422 RCV003224155 RCV005252107 RCV005625298

NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)

SNV
Germline

Chr2:166199716

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA155139

rs_199550149

8 SubmittersRCV000118310 RCV000240565 RCV001131479 RCV001131481 RCV001086623 RCV001131480 RCV002336258

NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)

SNV
Germline

Chr2:166280452

Conflicting classifications of pathogenicity

Small fiber neuropathy
not specified
Inherited Erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Inborn genetic diseases
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA171007

rs_182650126

14 SubmittersRCV000144932 RCV000218739 RCV000281545 RCV000284837 RCV000398464 RCV000416064 RCV000986925 RCV001083229 RCV001094589 RCV002415629 RCV004532638

NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)

SNV
Germline

Chr2:166286383

Conflicting classifications of pathogenicity

Small fiber neuropathy
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Seizure
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 7
not specified
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA239538

rs_187453572

13 SubmittersRCV000277449 RCV000388718 RCV000468717 RCV000781948 RCV000723961 RCV001332206 RCV005406890 RCV000290806 RCV000348148 RCV002399622

NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)

SNV
Germline

Chr2:166238211

Conflicting classifications of pathogenicity

Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Small fiber neuropathy
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
not specified

Criteria Provided
Conflicting Classifications

CA241933

rs_144941725

5 SubmittersRCV000274659 RCV000328181 RCV000368900 RCV000362906 RCV000724409 RCV001082326 RCV005431520

NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)

SNV
Germline

Chr2:166233432

Conflicting classifications of pathogenicity

not specified
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Self-limited epilepsy with centrotemporal spikes
Inherited Erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Primary erythromelalgia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201841

rs_180922748

14 SubmittersRCV000176193 RCV000260317 RCV000276938 RCV000655984 RCV000354077 RCV001084299 RCV002362895 RCV000367768 RCV000487601

NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln)

SNV
Germline

Chr2:166228824

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA242197

rs_200163716

7 SubmittersRCV000176293 RCV000647757 RCV002321697 RCV005396533

NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)

SNV
Germline

Chr2:166226651

Conflicting classifications of pathogenicity

Inherited Erythromelalgia
Primary erythromelalgia
Paroxysmal extreme pain disorder
not specified
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242438

rs_188336294

12 SubmittersRCV000269220 RCV000274820 RCV000363811 RCV000245570 RCV000329912 RCV001084236 RCV000724788 RCV002326962

NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)

SNV
Germline

Chr2:166304242

Conflicting classifications of pathogenicity

Condition: not provided
not specified
6 conditions
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA206037

rs_71428908

16 SubmittersRCV000179414 RCV000192901 RCV000515449 RCV000540917 RCV001133337 RCV001133338 RCV001133339 RCV001195747 RCV004786493 RCV002362922 RCV005016524

NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)

SNV
Germline

Chr2:166198928

Conflicting classifications of pathogenicity

not specified
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Small fiber neuropathy
Primary erythromelalgia
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1943628

rs_79805025

5 SubmittersRCV000222397 RCV000270670 RCV000390843 RCV000271832 RCV000359398 RCV000514151 RCV001080948

NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)

SNV
Germline

Chr2:166278196

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Inherited Erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944268

rs_41268671

6 SubmittersRCV000344215 RCV000285786 RCV000402179 RCV000384589 RCV000498158 RCV002450757 RCV001086993 RCV001332207

NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)

SNV
Germline

Chr2:166251835

Conflicting classifications of pathogenicity

not specified
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Primary erythromelalgia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944069

rs_200160858

7 SubmittersRCV000249295 RCV001132739 RCV001132741 RCV001132740 RCV000527962 RCV002450776 RCV001824712 RCV003148696

NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)

SNV
Germline

Chr2:166286474

Conflicting classifications of pathogenicity

Primary erythromelalgia
Inherited Erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Inborn genetic diseases
not specified
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA1944503

rs_200682458

11 SubmittersRCV000283366 RCV000378848 RCV000378922 RCV000342995 RCV002392820 RCV005238862 RCV000726661 RCV001083458 RCV004543151

NM_001365536.1(SCN9A):c.*3102C>T

SNV
Germline

Chr2:166195570

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Inherited Erythromelalgia

Criteria Provided
Conflicting Classifications

CA10611204

rs_182687583

1 SubmittersRCV000261410 RCV000304979 RCV000359735 RCV000320220

NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)

SNV
Germline

Chr2:166204368

Conflicting classifications of pathogenicity

Primary erythromelalgia
Paroxysmal extreme pain disorder
Inherited Erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA1943856

rs_187558439

5 SubmittersRCV000261220 RCV000291970 RCV000283499 RCV000383965 RCV000728379 RCV002328850 RCV001421504 RCV004530325

NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)

SNV
Germline

Chr2:166281803

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Small fiber neuropathy
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944369

rs_200014315

8 SubmittersRCV000302532 RCV000384201 RCV000344915 RCV000345922 RCV001087572 RCV000726836 RCV002411224

NM_001365536.1(SCN9A):c.213G>A (p.Val71=)

SNV
Germline

Chr2:166311544

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Small fiber neuropathy
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944867

rs_200240989

4 SubmittersRCV000281460 RCV000400747 RCV000312180 RCV000337865 RCV000535545 RCV002429295 RCV001577710

NM_001365536.1(SCN9A):c.*3426A>T

SNV
Germline

Chr2:166195246

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Primary erythromelalgia
Inherited Erythromelalgia

Criteria Provided
Conflicting Classifications

CA10611582

rs_186838828

1 SubmittersRCV000273901 RCV000328915 RCV000324427 RCV000368490

NM_001365536.1(SCN9A):c.*1014G>A

SNV
Germline

Chr2:166197658

Conflicting classifications of pathogenicity

Inherited Erythromelalgia
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10611608

rs_200393413

1 SubmittersRCV000332342 RCV000291451 RCV000326355 RCV000370774

NM_001365536.1(SCN9A):c.*124A>G

SNV
Germline

Chr2:166198548

Conflicting classifications of pathogenicity

Primary erythromelalgia
Paroxysmal extreme pain disorder
Inherited Erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10611647

rs_201137748

1 SubmittersRCV000290226 RCV000347485 RCV000312811 RCV000288897

NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn)

SNV
Germline

Chr2:166251869

Conflicting classifications of pathogenicity

Inherited Erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944075

rs_141040985

2 SubmittersRCV000298492 RCV000313804 RCV000393826 RCV000393834 RCV001861135

NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala)

SNV
Germline

Chr2:166277005

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Primary erythromelalgia
Small fiber neuropathy
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944195

rs_201890077

4 SubmittersRCV000320092 RCV000350156 RCV000295204 RCV000870579 RCV000374784 RCV004659009 RCV004812316

NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)

SNV
Germline

Chr2:166284634

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inherited Erythromelalgia
Primary erythromelalgia
Paroxysmal extreme pain disorder
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944429

rs_201318927

4 SubmittersRCV000269144 RCV000326582 RCV000367169 RCV000392642 RCV000555830 RCV002402051 RCV003326412

NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)

SNV
Germline

Chr2:166284714

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Small fiber neuropathy

Criteria Provided
Conflicting Classifications

CA10611677

rs_200876333

3 SubmittersRCV000294925 RCV000282063 RCV000374225 RCV001491805 RCV002402052 RCV000372990

NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)

SNV
Germline

Chr2:166284808

Conflicting classifications of pathogenicity

Primary erythromelalgia
Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944463

rs_199748300

3 SubmittersRCV000346132 RCV000293514 RCV000363472 RCV000401490 RCV000493503 RCV000688718

NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)

SNV
Germline

Chr2:166288543

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944567

rs_199986805

3 SubmittersRCV000260488 RCV000306043 RCV000315687 RCV000647753 RCV000356412 RCV001770266

NM_001365536.1(SCN9A):c.*2226T>G

SNV
Germline

Chr2:166196446

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inherited Erythromelalgia
Paroxysmal extreme pain disorder
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA10612501

rs_141310425

1 SubmittersRCV000304360 RCV000310155 RCV000362401 RCV000349576

NM_001365536.1(SCN9A):c.*785C>T

SNV
Germline

Chr2:166197887

Conflicting classifications of pathogenicity

Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Small fiber neuropathy

Criteria Provided
Conflicting Classifications

CA10612518

rs_181229506

1 SubmittersRCV000272894 RCV000327929 RCV000287909 RCV000382306

NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)

SNV
Germline

Chr2:166228953

Conflicting classifications of pathogenicity

Inherited Erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
not specified
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA1943972

rs_202235611

5 SubmittersRCV000340680 RCV000276112 RCV000375646 RCV000412791 RCV000647772 RCV001001973 RCV000376885

NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)

SNV
Germline

Chr2:166278161

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inherited Erythromelalgia
Paroxysmal extreme pain disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944266

rs_200185692

3 SubmittersRCV000262836 RCV000373036 RCV000868455 RCV000333422 RCV000387938 RCV002450897

NM_001365536.1(SCN9A):c.965+13T>C

SNV
Germline

Chr2:166294586

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
not specified
Primary erythromelalgia
Inherited Erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944626

rs_772337722

3 SubmittersRCV000280489 RCV000317791 RCV000436811 RCV000349425 RCV000385347 RCV002057588

NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)

SNV
Germline

Chr2:166311628

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Primary erythromelalgia
Small fiber neuropathy
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inborn genetic diseases
Condition: not provided
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA1944883

rs_200826539

10 SubmittersRCV000295951 RCV000349888 RCV000374375 RCV000546843 RCV000388140 RCV002379219 RCV001699462 RCV004544609

NM_001365536.1(SCN9A):c.-277C>T

SNV
Germline

Chr2:166375923

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Inherited Erythromelalgia
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA10612542

rs_201445594

1 SubmittersRCV000291679 RCV000326648 RCV000389564 RCV000332653

NM_001365536.1(SCN9A):c.*2344C>T

SNV
Germline

Chr2:166196328

Conflicting classifications of pathogenicity

Inherited Erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA10612763

rs_200962814

1 SubmittersRCV000277176 RCV000328652 RCV000369481 RCV000386663

NM_001365536.1(SCN9A):c.*2228G>T

SNV
Germline

Chr2:166196444

Conflicting classifications of pathogenicity

Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inherited Erythromelalgia
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA10612767

rs_200790957

1 SubmittersRCV000280565 RCV000371700 RCV000350580 RCV000396045

NM_001365536.1(SCN9A):c.*2191G>A

SNV
Germline

Chr2:166196481

Conflicting classifications of pathogenicity

Primary erythromelalgia
Small fiber neuropathy
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10612768

rs_201184093

1 SubmittersRCV000342600 RCV000357374 RCV000394741 RCV000398622

NM_001365536.1(SCN9A):c.*2078C>T

SNV
Germline

Chr2:166196594

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Primary erythromelalgia
Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10612775

rs_548072061

1 SubmittersRCV000279794 RCV000294797 RCV000402971 RCV000338316

NM_001365536.1(SCN9A):c.*669A>G

SNV
Germline

Chr2:166198003

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Small fiber neuropathy

Criteria Provided
Conflicting Classifications

CA10612787

rs_538508619

1 SubmittersRCV000271307 RCV000301733 RCV000390545 RCV000365812

NM_001365536.1(SCN9A):c.*217G>A

SNV
Germline

Chr2:166198455

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Small fiber neuropathy

Criteria Provided
Conflicting Classifications

CA10612794

rs_200625860

1 SubmittersRCV000264874 RCV000270973 RCV000310836 RCV000304876

NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)

SNV
Germline

Chr2:166199260

Conflicting classifications of pathogenicity

Primary erythromelalgia
Inherited Erythromelalgia
Paroxysmal extreme pain disorder
not specified
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943686

rs_201875421

4 SubmittersRCV000318343 RCV000332706 RCV000335912 RCV005238916 RCV000389535 RCV001428717 RCV002348074

NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)

SNV
Germline

Chr2:166238094

Conflicting classifications of pathogenicity

Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944009

rs_202047865

4 SubmittersRCV000267598 RCV000261894 RCV000268698 RCV000322675 RCV000556960 RCV002348075 RCV001697825

NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)

SNV
Germline

Chr2:166272407

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Primary erythromelalgia
Inborn genetic diseases
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1944092

rs_201984007

5 SubmittersRCV000329282 RCV000335564 RCV002450896 RCV002472991 RCV000647806 RCV000293562 RCV000388955

NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)

SNV
Germline

Chr2:166272730

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Small fiber neuropathy
Paroxysmal extreme pain disorder
Primary erythromelalgia
not specified
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944153

rs_188145203

4 SubmittersRCV000333798 RCV000330258 RCV000368610 RCV000308517 RCV000478443 RCV000865153 RCV001705501

NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)

SNV
Germline

Chr2:166286456

Conflicting classifications of pathogenicity

Primary erythromelalgia
Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Paroxysmal extreme pain disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944501

rs_777699798

3 SubmittersRCV000289493 RCV000390435 RCV000381650 RCV000695710 RCV000400251 RCV002392888

NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn)

SNV
Germline

Chr2:166288612

Conflicting classifications of pathogenicity

Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inherited Erythromelalgia
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA1944577

rs_188798505

1 SubmittersRCV000270280 RCV000273654 RCV000299739 RCV000368455

NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)

SNV
Germline

Chr2:166288474

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided
Inborn genetic diseases
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Severe myoclonic epilepsy in infancy
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944559

rs_200415928

5 SubmittersRCV000463481 RCV001755714 RCV002446880 RCV003224294 RCV005252109

NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)

SNV
Germline

Chr2:166272583

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Inborn genetic diseases
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1944130

rs_200560768

5 SubmittersRCV001131847 RCV000476670 RCV001131848 RCV002323791 RCV001131849 RCV003332181 RCV005407135

NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)

SNV
Germline

Chr2:166277138

Pathogenic/Likely pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Generalized epilepsy with febrile seizures plus
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA1944214

rs_202152511

5 SubmittersRCV000479461 RCV000700015 RCV001535622 RCV004023160

NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)

SNV
Germline

Chr2:166228754

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA59810250

rs_200610689

2 SubmittersRCV000540930 RCV001128930 RCV001128932 RCV001128931

NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)

SNV
Germline

Chr2:166242647

Conflicting classifications of pathogenicity

Primary erythromelalgia
Paroxysmal extreme pain disorder
Inborn genetic diseases
Condition: not provided
See cases
Neuropathy, hereditary sensory and autonomic, type 2A
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA1944039

rs_759003928

7 SubmittersRCV001129048 RCV001129049 RCV002456195 RCV001811060 RCV002252165 RCV005357600

NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)

SNV
Germline

Chr2:166288641

Conflicting classifications of pathogenicity

Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
not specified
Inborn genetic diseases
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA1944583

rs_202002028

7 SubmittersRCV001133249 RCV001133251 RCV001133250 RCV000835459 RCV001082565 RCV001700212 RCV002431670 RCV004543185

NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)

SNV
Germline

Chr2:166288553

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349085902

rs_1553491169

3 SubmittersRCV000647787 RCV001171363 RCV001311225

NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys)

SNV
Germline

Chr2:166198935

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
not specified

Criteria Provided
Conflicting Classifications

CA1943632

rs_200956485

4 SubmittersRCV000647756 RCV001329016 RCV005392234 RCV005431839

NM_001365536.1(SCN9A):c.822A>G (p.Lys274=)

SNV
Germline

Chr2:166303169

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA1944654

rs_199784484

2 SubmittersRCV000647814 RCV001129710 RCV001129711 RCV001132421

NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)

SNV
Germline

Chr2:166288466

Conflicting classifications of pathogenicity

Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Generalized epilepsy with febrile seizures plus, type 7
Febrile seizures, familial, 1
Paroxysmal extreme pain disorder
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944556

rs_763256222

4 SubmittersRCV000662199 RCV000662201 RCV000662200 RCV000662202 RCV001129582 RCV001855402 RCV002386134

NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)

SNV
Germline

Chr2:166303162

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944652

rs_121908916

3 SubmittersRCV000686365 RCV001129707 RCV001129709 RCV001129708 RCV002424587

NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)

SNV
Germline

Chr2:166198694

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1943596

rs_199822303

7 SubmittersRCV000800311 RCV001134340 RCV001134341 RCV001134342 RCV001508456 RCV002352354 RCV003235403

NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)

SNV
Germline

Chr2:166199053

Conflicting classifications of pathogenicity

Condition: not provided
Primary erythromelalgia
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1943653

rs_199572382

3 SubmittersRCV000826990 RCV001135810 RCV001135811 RCV001088977 RCV001128822

NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)

SNV
Germline

Chr2:166199392

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1943702

rs_372210358

2 SubmittersRCV001128826 RCV001131478 RCV001131477 RCV002556817

NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)

SNV
Germline

Chr2:166242653

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA59814631

rs_1018959938

2 SubmittersRCV001131731 RCV001131732 RCV001132738 RCV001297092

NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)

SNV
Germline

Chr2:166293358

Conflicting classifications of pathogenicity

Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944615

rs_765818027

2 SubmittersRCV001134711 RCV001134710 RCV001134712 RCV001214418

NM_001365536.1(SCN9A):c.-42T>C

SNV
Germline

Chr2:166311798

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA1944918

rs_201915876

1 SubmittersRCV001134933 RCV001134934 RCV001134932

NM_001365536.1(SCN9A):c.-92G>T

SNV
Germline

Chr2:166375738

Conflicting classifications of pathogenicity

Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Conflicting Classifications

CA59846963

rs_569406301

1 SubmittersRCV001129912 RCV001134935 RCV001134936

NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)

SNV
Germline

Chr2:166303290

Pathogenic

Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Single Submitter

CA349093253

rs_1698638581

2 SubmittersRCV001171362 RCV002558717

NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)

SNV
Germline

Chr2:166277210

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944226

rs_369148683

3 SubmittersRCV001325319 RCV002493700 RCV003135980

NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter)

SNV
Unknown

Chr2:166303090

Likely pathogenic

Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA349091597

rs_1553495048