ClinVar for MedGen (Select 344563) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064178	NM_001365536.1(SCN9A):c.3536G>A (p.Trp1179Ter)	SCN1A-AS1, SCN9A (W1168* +1 more)	Single nucleotide variant (nonsense)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 2665000	NM_001365536.1(SCN9A):c.2002del (p.Arg668fs)	SCN1A-AS1, SCN9A (R657fs +1 more)	Deletion (frameshift variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GLikely pathogenic
Select item 2503051	NM_001365536.1(SCN9A):c.966-2_972del	SCN1A-AS1, SCN9A	Deletion (splice acceptor variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 2501757	NM_001365536.1(SCN9A):c.2874+12delinsTT	SCN1A-AS1, SCN9A	Indel (intron variant)	Primary erythromelalgia +2 more	GUncertain significance
Select item 1809687	NM_001365536.1(SCN9A):c.2874+11_2874+13del	SCN1A-AS1, SCN9A	Deletion (intron variant)	Primary erythromelalgia +4 more	GBenign/Likely benign
Select item 1702989	NM_001365536.1(SCN9A):c.596+1G>A	SCN9A	Single nucleotide variant (splice donor variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 1332926	NM_001365536.1(SCN9A):c.596+25C>T	SCN9A	Single nucleotide variant (intron variant)	Paroxysmal extreme pain disorder +2 more	GBenign
Select item 1332925	NM_001365536.1(SCN9A):c.1107+48C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Primary erythromelalgia +2 more	GBenign
Select item 1319980	NM_001365536.1(SCN9A):c.5272G>C (p.Val1758Leu)	SCN1A-AS1, SCN9A (V1747L +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GUncertain significance
Select item 1299605	NM_001365536.1(SCN9A):c.5102A>G (p.Asp1701Gly)	SCN9A, SCN1A-AS1 (D1690G +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GUncertain significance
Select item 1174514	NM_001365536.1(SCN9A):c.1108-2A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (splice acceptor variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 1174115	NM_001365536.1(SCN9A):c.377+7T>G	SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 1065200	NM_001365536.1(SCN9A):c.4048T>C (p.Cys1350Arg)	SCN1A-AS1, SCN9A (C1339R +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 1053830	NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly)	SCN1A-AS1, SCN9A (D1100G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1028064	NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter)	SCN9A (K301*)	Single nucleotide variant (nonsense)	Primary erythromelalgia +1 more	GLikely pathogenic
Select item 1025052	NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)	SCN1A-AS1, SCN9A (V872F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary erythromelalgia +5 more	GConflicting classifications of pathogenicity
Select item 1010055	NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala)	SCN1A-AS1, SCN9A (D1100A +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more	GUncertain significance
Select item 956459	NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg)	SCN1A-AS1, SCN9A (T1935R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GUncertain significance
Select item 938920	NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)	SCN9A, SCN1A-AS1 (R907Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GPathogenic/Likely pathogenic
Select item 894765	NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His)	SCN9A, SCN1A-AS1 (D736H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894576	NM_001365536.1(SCN9A):c.*835C>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894542	NM_001365536.1(SCN9A):c.*1383G>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894541	NM_001365536.1(SCN9A):c.*1417A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894503	NM_001365536.1(SCN9A):c.*1815T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894428	NM_002977.3(SCN9A):c.-348G>C	SCN9A	Single nucleotide variant	Primary erythromelalgia +2 more	GUncertain significance
Select item 894402	NM_001365536.1(SCN9A):c.-42T>C	SCN9A	Single nucleotide variant (5 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GConflicting classifications of pathogenicity
Select item 894401	NM_001365536.1(SCN9A):c.*3204G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894325	NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)	SCN1A-AS1, SCN9A (G327E)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +4 more	GConflicting classifications of pathogenicity
Select item 894261	NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His)	SCN1A-AS1, SCN9A (Y1481H +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 894168	NM_001365536.1(SCN9A):c.*887T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894167	NM_001365536.1(SCN9A):c.*900T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894137	NM_001365536.1(SCN9A):c.*1422T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 894029	NM_002977.3(SCN9A):c.-324C>A	SCN9A	Single nucleotide variant (5 prime UTR variant)	Primary erythromelalgia +2 more	GUncertain significance
Select item 894028	NM_001365536.1(SCN9A):c.*2945C>A	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 893993	NM_001365536.1(SCN9A):c.-31G>A	SCN9A	Single nucleotide variant (5 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 893992	NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys)	SCN9A (Q25K)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +4 more	GUncertain significance
Select item 893844	NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val)	SCN9A, SCN1A-AS1 (D736V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +4 more	GUncertain significance
Select item 893487	NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)	SCN1A-AS1, SCN9A (C1159Y +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +4 more	GConflicting classifications of pathogenicity
Select item 893366	NM_001365536.1(SCN9A):c.*237C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 893365	NM_001365536.1(SCN9A):c.*362C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GBenign/Likely benign
Select item 893289	NM_001365536.1(SCN9A):c.*1643T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 893181	NM_001365536.1(SCN9A):c.*3053G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 893151	NM_001365536.1(SCN9A):c.*408A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 893150	NM_001365536.1(SCN9A):c.*410A>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 893078	NM_001365536.1(SCN9A):c.*1735C>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 892996	NM_001365536.1(SCN9A):c.*2677T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 892995	NM_001365536.1(SCN9A):c.*2729C>A	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 892956	NM_001365536.1(SCN9A):c.-92G>T	SCN9A	Single nucleotide variant (5 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GConflicting classifications of pathogenicity
Select item 892955	NM_001365536.1(SCN9A):c.*3094A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more	GUncertain significance
Select item 892954	NM_001365536.1(SCN9A):c.*3202T>C	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 892917	NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser)	SCN9A (P80S)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more	GUncertain significance
Select item 892719	NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr)	SCN1A-AS1, SCN9A (I1080T +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 892645	NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys)	SCN1A-AS1, SCN9A (R1367C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +4 more	GUncertain significance
Select item 892607	NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +4 more	GConflicting classifications of pathogenicity
Select item 892606	NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His)	SCN1A-AS1, SCN9A (R1848H +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +4 more	GUncertain significance
Select item 892579	NM_001365536.1(SCN9A):c.*159T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +2 more	GUncertain significance
Select item 892578	NM_001365536.1(SCN9A):c.*164G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +2 more	GUncertain significance
Select item 856918	NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 852108	NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr)	SCN1A-AS1, SCN9A (M1582T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 840205	NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile)	SCN9A (V13I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 706336	NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Primary erythromelalgia +5 more	GBenign/Likely benign
Select item 668198	NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +5 more	GConflicting classifications of pathogenicity
Select item 663698	NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile)	SCN1A-AS1, SCN9A (V1130I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary erythromelalgia +4 more	GUncertain significance
Select item 660643	NM_001365536.1(SCN9A):c.4879G>A (p.Ala1627Thr)	SCN1A-AS1, SCN9A (A1627T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 655885	NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser)	SCN1A-AS1, SCN9A (F772S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 647001	NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr)	SCN9A (C255Y)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 646093	NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)	SCN1A-AS1, SCN9A (D1982V +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 642002	NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn)	SCN1A-AS1, SCN9A (K666N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 626166	NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Primary erythromelalgia +4 more	GUncertain significance
Select item 583066	NM_001365536.1(SCN9A):c.5555A>C (p.Glu1852Ala)	SCN1A-AS1, SCN9A (E1841A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 570897	NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys)	SCN9A, SCN1A-AS1 (S1792C +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +4 more	GUncertain significance
Select item 566530	NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +5 more	GConflicting classifications of pathogenicity
Select item 548618	NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)	SCN1A-AS1, SCN9A (R429C)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GConflicting classifications of pathogenicity
Select item 538490	NM_001365536.1(SCN9A):c.822A>G (p.Lys274=)	SCN9A	Single nucleotide variant (synonymous variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 538480	NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)	SCN1A-AS1, SCN9A (S535L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GUncertain significance
Select item 538464	NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)	SCN1A-AS1, SCN9A (S1972I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GUncertain significance
Select item 504889	NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter)	SCN1A-AS1, SCN9A (W1567* +1 more)	Single nucleotide variant (nonsense)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic/Likely pathogenic
Select item 488589	NM_001365536.1(SCN9A):c.4364del (p.Val1455fs)	SCN1A-AS1, SCN9A (V1444fs +1 more)	Deletion (frameshift variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GPathogenic
Select item 471155	NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)	SCN1A-AS1, SCN9A (N1929K +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +5 more	GUncertain significance
Select item 471147	NM_001365536.1(SCN9A):c.561G>A (p.Pro187=)	SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +6 more	GLikely benign
Select item 471146	NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys)	SCN9A (R185C)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +5 more	GUncertain significance
Select item 471128	NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met)	SCN1A-AS1, SCN9A (I1445M +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +5 more	GUncertain significance
Select item 471123	NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +4 more	GConflicting classifications of pathogenicity
Select item 471112	NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys)	SCN1A-AS1, SCN9A (E1139K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 471106	NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile)	SCN1A-AS1, SCN9A (T1031I +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GUncertain significance
Select item 471099	NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs)	SCN1A-AS1, SCN9A (L818fs)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic
Select item 471092	NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)	SCN1A-AS1, SCN9A (R658H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +7 more	GConflicting classifications of pathogenicity
Select item 471078	NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related condition +7 more	GConflicting classifications of pathogenicity
Select item 448293	NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)	SCN1A-AS1, SCN9A (N1169D +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +6 more	GConflicting classifications of pathogenicity
Select item 441531	NM_002977.3(SCN9A):c.[2794A>C;2971G>T]	SCN1A-AS1, SCN9A (M943L +1 more)	Single nucleotide variant (missense variant)	Small fiber neuropathy	GPathogenic
Select item 440257	NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter)	SCN9A, SCN1A-AS1 (R830* +1 more)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic
Select item 440255	NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)	SCN1A-AS1, SCN9A (W1161R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 433099	NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)	SCN1A-AS1, SCN9A (G616R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GUncertain significance
Select item 421969	NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	SCN1A-AS1, SCN9A (R896W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 415032	NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)	SCN1A-AS1, SCN9A (M426K)	Single nucleotide variant (missense variant)	Primary erythromelalgia +7 more	GConflicting classifications of pathogenicity
Select item 415031	NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)	SCN1A-AS1, SCN9A (K1045R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 332009	NM_002977.3(SCN9A):c.-339G>C	SCN9A	Single nucleotide variant (5 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GUncertain significance
Select item 332008	NM_002977.3(SCN9A):c.-324C>T	SCN9A	Single nucleotide variant (5 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GUncertain significance
Select item 332007	NM_002977.3(SCN9A):c.-307G>T	SCN9A	Single nucleotide variant (5 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 332006	NM_001365536.1(SCN9A):c.-294T>C	SCN9A	Single nucleotide variant (5 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GBenign/Likely benign

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