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 Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A	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 Abnormality of pain sensation Acute episodes of neuropathic symptoms 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	7 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 Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder 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 Primary erythromelalgia Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Small fiber neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA147606	rs_4369876	12 SubmittersRCV000080039 RCV000284177 RCV000389941 RCV000490436 RCV000469131 RCV000375717 RCV000992915
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)	SNV Germline	Chr2:166272748	Conflicting classifications of pathogenicity	Condition: not provided not specified Paroxysmal extreme pain disorder Small fiber neuropathy Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Childhood epilepsy with centrotemporal spikes 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	13 SubmittersRCV000118298 RCV000222414 RCV000313714 RCV000391228 RCV000366834 RCV000391236 RCV000655986 RCV001080160 RCV002433611
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	SNV Germline	Chr2:166238128	Conflicting classifications of pathogenicity	not specified Severe myoclonic epilepsy in infancy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Inherited Erythromelalgia Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Primary erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Severe myoclonic epilepsy in infancy 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 Inborn genetic diseases Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA201784	rs_141268327	18 SubmittersRCV000176065 RCV000328939 RCV000335798 RCV000383539 RCV000389147 RCV000422016 RCV000714848 RCV000768312 RCV001080021 RCV000714847 RCV002345422 RCV003224155
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 Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA155139	rs_199550149	8 SubmittersRCV000118310 RCV000240565 RCV001131479 RCV001131481 RCV001131480 RCV001086623 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 Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Primary erythromelalgia Inborn genetic diseases SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA171007	rs_182650126	13 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	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy Primary erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Seizure Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA239538	rs_187453572	10 SubmittersRCV000290806 RCV000277449 RCV000348148 RCV000388718 RCV000468717 RCV000723961 RCV000781948 RCV001332206 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 Small fiber neuropathy 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	CA241933	rs_144941725	4 SubmittersRCV000274659 RCV000328181 RCV000362906 RCV000368900 RCV000724409 RCV001082326
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)	SNV Germline	Chr2:166233432	Conflicting classifications of pathogenicity	not specified Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Paroxysmal extreme pain disorder Condition: not provided Childhood epilepsy with centrotemporal spikes Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA201841	rs_180922748	13 SubmittersRCV000176193 RCV000367768 RCV000260317 RCV000354077 RCV000276938 RCV000487601 RCV000655984 RCV001084299 RCV002362895
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)	SNV Germline	Chr2:166226651	Conflicting classifications of pathogenicity	Primary erythromelalgia not specified Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242438	rs_188336294	12 SubmittersRCV000274820 RCV000245570 RCV000363811 RCV000329912 RCV000269220 RCV000724788 RCV001084236 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206037	rs_71428908	15 SubmittersRCV000179414 RCV000192901 RCV000515449 RCV000540917 RCV001133337 RCV001133338 RCV001133339 RCV001195747 RCV002362922
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)	SNV Germline	Chr2:166198928	Conflicting classifications of pathogenicity	not specified Primary erythromelalgia Small fiber neuropathy 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	Criteria Provided Conflicting Classifications	CA1943628	rs_79805025	5 SubmittersRCV000222397 RCV000359398 RCV000271832 RCV000270670 RCV000390843 RCV000514151 RCV001080948
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)	SNV Germline	Chr2:166278196	Conflicting classifications of pathogenicity	Inherited Erythromelalgia Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 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	CA1944268	rs_41268671	6 SubmittersRCV000285786 RCV000384589 RCV000402179 RCV000498158 RCV001086993 RCV001332207 RCV000344215 RCV002450757
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)	SNV Germline	Chr2:166251835	Conflicting classifications of pathogenicity	not specified 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 Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944069	rs_200160858	6 SubmittersRCV000249295 RCV000527962 RCV001132740 RCV001824712 RCV001132739 RCV001132741 RCV003148696 RCV002450776
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)	SNV Germline	Chr2:166286474	Conflicting classifications of pathogenicity	Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1944503	rs_200682458	9 SubmittersRCV000283366 RCV000342995 RCV000378922 RCV000378848 RCV000726661 RCV001083458 RCV002392820 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 Inherited Erythromelalgia Primary erythromelalgia	Criteria Provided Conflicting Classifications	CA10611204	rs_182687583	1 SubmittersRCV000261410 RCV000304979 RCV000320220 RCV000359735
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)	SNV Germline	Chr2:166204368	Conflicting classifications of pathogenicity	Primary erythromelalgia Inherited Erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1943856	rs_187558439	5 SubmittersRCV000261220 RCV000283499 RCV000291970 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 Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Small fiber neuropathy Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944369	rs_200014315	8 SubmittersRCV000302532 RCV000345922 RCV000344915 RCV000384201 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 Small fiber neuropathy Paroxysmal extreme pain disorder Primary erythromelalgia 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	CA1944867	rs_200240989	4 SubmittersRCV000281460 RCV000312180 RCV000337865 RCV000400747 RCV000535545 RCV001577710 RCV002429295
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	Paroxysmal extreme pain disorder Inherited Erythromelalgia Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Criteria Provided Conflicting Classifications	CA10611608	rs_200393413	1 SubmittersRCV000291451 RCV000332342 RCV000326355 RCV000370774
NM_001365536.1(SCN9A):c.*124A>G	SNV Germline	Chr2:166198548	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Inherited Erythromelalgia Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10611647	rs_201137748	1 SubmittersRCV000290226 RCV000288897 RCV000312811 RCV000347485
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	Small fiber neuropathy 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	CA1944195	rs_201890077	2 SubmittersRCV000295204 RCV000320092 RCV000350156 RCV000374784 RCV000870579
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944429	rs_201318927	4 SubmittersRCV000269144 RCV000326582 RCV000367169 RCV000392642 RCV000555830 RCV003326412 RCV002402051
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)	SNV Germline	Chr2:166284714	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy 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	CA10611677	rs_200876333	3 SubmittersRCV000282063 RCV000294925 RCV000372990 RCV000374225 RCV001491805 RCV002402052
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)	SNV Germline	Chr2:166284808	Conflicting classifications of pathogenicity	Small fiber neuropathy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia 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 SubmittersRCV000293514 RCV000363472 RCV000346132 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 Primary erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA1944567	rs_199986805	3 SubmittersRCV000260488 RCV000306043 RCV000315687 RCV000356412 RCV000647753 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 Primary erythromelalgia Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10612501	rs_141310425	1 SubmittersRCV000304360 RCV000310155 RCV000349576 RCV000362401
NM_001365536.1(SCN9A):c.*785C>T	SNV Germline	Chr2:166197887	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Small fiber neuropathy	Criteria Provided Conflicting Classifications	CA10612518	rs_181229506	1 SubmittersRCV000272894 RCV000287909 RCV000327929 RCV000382306
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)	SNV Germline	Chr2:166228953	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Inherited Erythromelalgia Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A not specified	Criteria Provided Conflicting Classifications	CA1943972	rs_202235611	5 SubmittersRCV000276112 RCV000340680 RCV000376885 RCV000375646 RCV000412791 RCV000647772 RCV001001973
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 Inherited Erythromelalgia Primary erythromelalgia Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944266	rs_200185692	3 SubmittersRCV000262836 RCV000333422 RCV000373036 RCV000387938 RCV000868455 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 Primary erythromelalgia Inherited Erythromelalgia not specified Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA1944626	rs_772337722	3 SubmittersRCV000280489 RCV000317791 RCV000349425 RCV000385347 RCV000436811 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 Condition: not provided Inborn genetic diseases SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1944883	rs_200826539	9 SubmittersRCV000295951 RCV000349888 RCV000374375 RCV000546843 RCV000388140 RCV001699462 RCV002379219 RCV004544609
NM_001365536.1(SCN9A):c.-277C>T	SNV Germline	Chr2:166375923	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Inherited Erythromelalgia	Criteria Provided Conflicting Classifications	CA10612542	rs_201445594	1 SubmittersRCV000291679 RCV000332653 RCV000326648 RCV000389564
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 Inherited Erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10612767	rs_200790957	1 SubmittersRCV000280565 RCV000350580 RCV000371700 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 Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy	Criteria Provided Conflicting Classifications	CA10612775	rs_548072061	1 SubmittersRCV000279794 RCV000294797 RCV000338316 RCV000402971
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 Small fiber neuropathy Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10612787	rs_538508619	1 SubmittersRCV000271307 RCV000301733 RCV000365812 RCV000390545
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 Small fiber neuropathy Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications	CA10612794	rs_200625860	1 SubmittersRCV000264874 RCV000270973 RCV000304876 RCV000310836
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 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	3 SubmittersRCV000318343 RCV000332706 RCV000335912 RCV000389535 RCV001428717 RCV002348074
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)	SNV Germline	Chr2:166238094	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy 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	CA1944009	rs_202047865	4 SubmittersRCV000261894 RCV000267598 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 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	CA1944092	rs_201984007	5 SubmittersRCV000329282 RCV000335564 RCV000293562 RCV000647806 RCV000388955 RCV002450896 RCV002472991
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)	SNV Germline	Chr2:166272730	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Small fiber neuropathy Paroxysmal extreme pain disorder Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1944153	rs_188145203	4 SubmittersRCV000308517 RCV000333798 RCV000330258 RCV000368610 RCV000865153 RCV001705501 RCV000478443
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)	SNV Germline	Chr2:166286456	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive 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	Criteria Provided Conflicting Classifications	CA1944501	rs_777699798	3 SubmittersRCV000289493 RCV000381650 RCV000390435 RCV000400251 RCV000695710 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 Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Severe myoclonic epilepsy in infancy Condition: not provided Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944559	rs_200415928	5 SubmittersRCV000463481 RCV000768079 RCV001755714 RCV003224294 RCV002446880
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)	SNV Germline	Chr2:166272583	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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1944130	rs_200560768	4 SubmittersRCV000476670 RCV001131848 RCV001131849 RCV001131847 RCV002323791 RCV003332181
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	SNV Germline	Chr2:166277138	Pathogenic/Likely pathogenic	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive 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	Generalized epilepsy with febrile seizures plus, type 7 Primary erythromelalgia Paroxysmal extreme pain disorder Condition: not provided See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1944039	rs_759003928	5 SubmittersRCV000778570 RCV001129048 RCV001129049 RCV001811060 RCV002252165 RCV002456195
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)	SNV Germline	Chr2:166288641	Conflicting classifications of pathogenicity	Condition: not provided 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 not specified Inborn genetic diseases SCN9A-related disorder	Criteria Provided Conflicting Classifications	CA1944583	rs_202002028	7 SubmittersRCV000835459 RCV001082565 RCV001133249 RCV001133251 RCV001133250 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.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 Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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	Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_121908916	3 SubmittersRCV000686365 RCV001129708 RCV001129707 RCV001129709 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 Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_199822303	7 SubmittersRCV000800311 RCV001134340 RCV001134341 RCV001134342 RCV002352354 RCV001508456 RCV003235403
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)	SNV Germline	Chr2:166199053	Conflicting classifications of pathogenicity	Condition: not provided Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications		rs_199572382	3 SubmittersRCV000826990 RCV001088977 RCV001128822 RCV001135810 RCV001135811
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)	SNV Germline	Chr2:166199392	Conflicting classifications of pathogenicity	Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications		rs_372210358	2 SubmittersRCV001128826 RCV001131477 RCV001131478 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 Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications		rs_1018959938	2 SubmittersRCV001131731 RCV001131732 RCV001132738 RCV001297092
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)	SNV Germline	Chr2:166293358	Conflicting classifications of pathogenicity	Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications		rs_765818027	2 SubmittersRCV001134712 RCV001134710 RCV001134711 RCV001214418
NM_001365536.1(SCN9A):c.-42T>C	SNV Germline	Chr2:166311798	Conflicting classifications of pathogenicity	Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder	Criteria Provided Conflicting Classifications		rs_201915876	1 SubmittersRCV001134932 RCV001134933 RCV001134934
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		rs_569406301	1 SubmittersRCV001129912 RCV001134935 RCV001134936
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)	SNV Germline	Chr2:166303290	Pathogenic	Primary erythromelalgia Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Single Submitter		rs_1698638581	2 SubmittersRCV001171362 RCV002558717
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)	SNV Germline	Chr2:166277210	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 Neuropathy, hereditary sensory and autonomic, type 2A Paroxysmal extreme pain disorder Condition: not provided	Criteria Provided Conflicting Classifications		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		rs_1553495048	2 SubmittersRCV001329018 RCV003448394
NM_001365536.1(SCN9A):c.2656C>G (p.Gln886Glu)	SNV Unknown	Chr2:166277201	Likely pathogenic	Primary erythromelalgia	Criteria Provided Single Submitter			1 SubmittersRCV003148413

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

SNV
Germline

Chr2:166277251

Pathogenic

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

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
Abnormality of pain sensation
Acute episodes of neuropathic symptoms
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

7 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
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
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
Primary erythromelalgia
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Small fiber neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147606

rs_4369876

12 SubmittersRCV000080039 RCV000284177 RCV000389941 RCV000490436 RCV000469131 RCV000375717 RCV000992915

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

SNV
Germline

Chr2:166272748

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Paroxysmal extreme pain disorder
Small fiber neuropathy
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Childhood epilepsy with centrotemporal spikes
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

13 SubmittersRCV000118298 RCV000222414 RCV000313714 RCV000391228 RCV000366834 RCV000391236 RCV000655986 RCV001080160 RCV002433611

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

SNV
Germline

Chr2:166238128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201784

rs_141268327

18 SubmittersRCV000176065 RCV000328939 RCV000335798 RCV000383539 RCV000389147 RCV000422016 RCV000714848 RCV000768312 RCV001080021 RCV000714847 RCV002345422 RCV003224155

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

Criteria Provided
Conflicting Classifications

CA155139

rs_199550149

8 SubmittersRCV000118310 RCV000240565 RCV001131479 RCV001131481 RCV001131480 RCV001086623 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
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Primary erythromelalgia
Inborn genetic diseases
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA171007

rs_182650126

13 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

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

Criteria Provided
Conflicting Classifications

CA239538

rs_187453572

10 SubmittersRCV000290806 RCV000277449 RCV000348148 RCV000388718 RCV000468717 RCV000723961 RCV000781948 RCV001332206 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
Small fiber neuropathy
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

CA241933

rs_144941725

4 SubmittersRCV000274659 RCV000328181 RCV000362906 RCV000368900 RCV000724409 RCV001082326

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

SNV
Germline

Chr2:166233432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201841

rs_180922748

13 SubmittersRCV000176193 RCV000367768 RCV000260317 RCV000354077 RCV000276938 RCV000487601 RCV000655984 RCV001084299 RCV002362895

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

SNV
Germline

Chr2:166226651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242438

rs_188336294

12 SubmittersRCV000274820 RCV000245570 RCV000363811 RCV000329912 RCV000269220 RCV000724788 RCV001084236 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206037

rs_71428908

15 SubmittersRCV000179414 RCV000192901 RCV000515449 RCV000540917 RCV001133337 RCV001133338 RCV001133339 RCV001195747 RCV002362922

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

SNV
Germline

Chr2:166198928

Conflicting classifications of pathogenicity

not specified
Primary erythromelalgia
Small fiber neuropathy
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

Criteria Provided
Conflicting Classifications

CA1943628

rs_79805025

5 SubmittersRCV000222397 RCV000359398 RCV000271832 RCV000270670 RCV000390843 RCV000514151 RCV001080948

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

SNV
Germline

Chr2:166278196

Conflicting classifications of pathogenicity

Inherited Erythromelalgia
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 7
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

CA1944268

rs_41268671

6 SubmittersRCV000285786 RCV000384589 RCV000402179 RCV000498158 RCV001086993 RCV001332207 RCV000344215 RCV002450757

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

SNV
Germline

Chr2:166251835

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1944069

rs_200160858

6 SubmittersRCV000249295 RCV000527962 RCV001132740 RCV001824712 RCV001132739 RCV001132741 RCV003148696 RCV002450776

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

SNV
Germline

Chr2:166286474

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1944503

rs_200682458

9 SubmittersRCV000283366 RCV000342995 RCV000378922 RCV000378848 RCV000726661 RCV001083458 RCV002392820 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
Inherited Erythromelalgia
Primary erythromelalgia

Criteria Provided
Conflicting Classifications

CA10611204

rs_182687583

1 SubmittersRCV000261410 RCV000304979 RCV000320220 RCV000359735

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

SNV
Germline

Chr2:166204368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1943856

rs_187558439

5 SubmittersRCV000261220 RCV000283499 RCV000291970 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
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Small fiber neuropathy
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944369

rs_200014315

8 SubmittersRCV000302532 RCV000345922 RCV000344915 RCV000384201 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
Small fiber neuropathy
Paroxysmal extreme pain disorder
Primary erythromelalgia
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

CA1944867

rs_200240989

4 SubmittersRCV000281460 RCV000312180 RCV000337865 RCV000400747 RCV000535545 RCV001577710 RCV002429295

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

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

Criteria Provided
Conflicting Classifications

CA10611608

rs_200393413

1 SubmittersRCV000291451 RCV000332342 RCV000326355 RCV000370774

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

SNV
Germline

Chr2:166198548

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10611647

rs_201137748

1 SubmittersRCV000290226 RCV000288897 RCV000312811 RCV000347485

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

Small fiber neuropathy
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

CA1944195

rs_201890077

2 SubmittersRCV000295204 RCV000320092 RCV000350156 RCV000374784 RCV000870579

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944429

rs_201318927

4 SubmittersRCV000269144 RCV000326582 RCV000367169 RCV000392642 RCV000555830 RCV003326412 RCV002402051

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

SNV
Germline

Chr2:166284714

Conflicting classifications of pathogenicity

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

CA10611677

rs_200876333

3 SubmittersRCV000282063 RCV000294925 RCV000372990 RCV000374225 RCV001491805 RCV002402052

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

SNV
Germline

Chr2:166284808

Conflicting classifications of pathogenicity

Small fiber neuropathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
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 SubmittersRCV000293514 RCV000363472 RCV000346132 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
Primary erythromelalgia
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944567

rs_199986805

3 SubmittersRCV000260488 RCV000306043 RCV000315687 RCV000356412 RCV000647753 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
Primary erythromelalgia
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA10612501

rs_141310425

1 SubmittersRCV000304360 RCV000310155 RCV000349576 RCV000362401

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

SNV
Germline

Chr2:166197887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10612518

rs_181229506

1 SubmittersRCV000272894 RCV000287909 RCV000327929 RCV000382306

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

SNV
Germline

Chr2:166228953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1943972

rs_202235611

5 SubmittersRCV000276112 RCV000340680 RCV000376885 RCV000375646 RCV000412791 RCV000647772 RCV001001973

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
Inherited Erythromelalgia
Primary erythromelalgia
Paroxysmal extreme pain disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944266

rs_200185692

3 SubmittersRCV000262836 RCV000333422 RCV000373036 RCV000387938 RCV000868455 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
Primary erythromelalgia
Inherited Erythromelalgia
not specified
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA1944626

rs_772337722

3 SubmittersRCV000280489 RCV000317791 RCV000349425 RCV000385347 RCV000436811 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
Condition: not provided
Inborn genetic diseases
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA1944883

rs_200826539

9 SubmittersRCV000295951 RCV000349888 RCV000374375 RCV000546843 RCV000388140 RCV001699462 RCV002379219 RCV004544609

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

SNV
Germline

Chr2:166375923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10612542

rs_201445594

1 SubmittersRCV000291679 RCV000332653 RCV000326648 RCV000389564

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

Criteria Provided
Conflicting Classifications

CA10612767

rs_200790957

1 SubmittersRCV000280565 RCV000350580 RCV000371700 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
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Small fiber neuropathy

Criteria Provided
Conflicting Classifications

CA10612775

rs_548072061

1 SubmittersRCV000279794 RCV000294797 RCV000338316 RCV000402971

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
Small fiber neuropathy
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA10612787

rs_538508619

1 SubmittersRCV000271307 RCV000301733 RCV000365812 RCV000390545

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
Small fiber neuropathy
Paroxysmal extreme pain disorder

Criteria Provided
Conflicting Classifications

CA10612794

rs_200625860

1 SubmittersRCV000264874 RCV000270973 RCV000304876 RCV000310836

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
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

3 SubmittersRCV000318343 RCV000332706 RCV000335912 RCV000389535 RCV001428717 RCV002348074

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

SNV
Germline

Chr2:166238094

Conflicting classifications of pathogenicity

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Small fiber neuropathy
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

CA1944009

rs_202047865

4 SubmittersRCV000261894 RCV000267598 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
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

CA1944092

rs_201984007

5 SubmittersRCV000329282 RCV000335564 RCV000293562 RCV000647806 RCV000388955 RCV002450896 RCV002472991

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

SNV
Germline

Chr2:166272730

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1944153

rs_188145203

4 SubmittersRCV000308517 RCV000333798 RCV000330258 RCV000368610 RCV000865153 RCV001705501 RCV000478443

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

SNV
Germline

Chr2:166286456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1944501

rs_777699798

3 SubmittersRCV000289493 RCV000381650 RCV000390435 RCV000400251 RCV000695710 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
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Generalized epilepsy with febrile seizures plus, type 7
Severe myoclonic epilepsy in infancy
Condition: not provided
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Paroxysmal extreme pain disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944559

rs_200415928

5 SubmittersRCV000463481 RCV000768079 RCV001755714 RCV003224294 RCV002446880

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

SNV
Germline

Chr2:166272583

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1944130

rs_200560768

4 SubmittersRCV000476670 RCV001131848 RCV001131849 RCV001131847 RCV002323791 RCV003332181

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

SNV
Germline

Chr2:166277138

Pathogenic/Likely pathogenic

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

Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia
Paroxysmal extreme pain disorder
Condition: not provided
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1944039

rs_759003928

5 SubmittersRCV000778570 RCV001129048 RCV001129049 RCV001811060 RCV002252165 RCV002456195

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

SNV
Germline

Chr2:166288641

Conflicting classifications of pathogenicity

Condition: not provided
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
not specified
Inborn genetic diseases
SCN9A-related disorder

Criteria Provided
Conflicting Classifications

CA1944583

rs_202002028

7 SubmittersRCV000835459 RCV001082565 RCV001133249 RCV001133251 RCV001133250 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.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
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_121908916

3 SubmittersRCV000686365 RCV001129708 RCV001129707 RCV001129709 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
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_199822303

7 SubmittersRCV000800311 RCV001134340 RCV001134341 RCV001134342 RCV002352354 RCV001508456 RCV003235403

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

SNV
Germline

Chr2:166199053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199572382

3 SubmittersRCV000826990 RCV001088977 RCV001128822 RCV001135810 RCV001135811

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

SNV
Germline

Chr2:166199392

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372210358

2 SubmittersRCV001128826 RCV001131477 RCV001131478 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
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

rs_1018959938

2 SubmittersRCV001131731 RCV001131732 RCV001132738 RCV001297092

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

SNV
Germline

Chr2:166293358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_765818027

2 SubmittersRCV001134712 RCV001134710 RCV001134711 RCV001214418

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

SNV
Germline

Chr2:166311798

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201915876

1 SubmittersRCV001134932 RCV001134933 RCV001134934

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

rs_569406301

1 SubmittersRCV001129912 RCV001134935 RCV001134936

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

SNV
Germline

Chr2:166303290

Pathogenic

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

Criteria Provided
Single Submitter

rs_1698638581

2 SubmittersRCV001171362 RCV002558717

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

SNV
Germline

Chr2:166277210

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
Neuropathy, hereditary sensory and autonomic, type 2A
Paroxysmal extreme pain disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

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

rs_1553495048

2 SubmittersRCV001329018 RCV003448394

NM_001365536.1(SCN9A):c.2656C>G (p.Gln886Glu)

SNV
Unknown

Chr2:166277201

Likely pathogenic

Primary erythromelalgia

Criteria Provided
Single Submitter

1 SubmittersRCV003148413