"Illumina Laboratory Services, Illumina"[submitter] AND "SCN9A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331895	NM_001365536.1(SCN9A):c.*3426A>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GConflicting classifications of pathogenicity
Select item 331896	NM_001365536.1(SCN9A):c.*3317A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331897	NM_001365536.1(SCN9A):c.*3282A>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GUncertain significance
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 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 331898	NM_001365536.1(SCN9A):c.*3102C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 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 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 331899	NM_001365536.1(SCN9A):c.*3038C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331900	NM_001365536.1(SCN9A):c.*2986T>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 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 331901	NM_001365536.1(SCN9A):c.*2928G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GUncertain significance
Select item 331902	NM_001365536.1(SCN9A):c.*2860C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GUncertain significance
Select item 331903	NM_001365536.1(SCN9A):c.*2854T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331904	NM_001365536.1(SCN9A):c.*2744del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 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 331905	NM_001365536.1(SCN9A):c.*2721C>G	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GBenign/Likely benign
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 331906	NM_001365536.1(SCN9A):c.*2662G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331907	NM_001365536.1(SCN9A):c.*2640G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Small fiber neuropathy +3 more	GBenign
Select item 331908	NM_001365536.1(SCN9A):c.2616_2626del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GBenign
Select item 331909	NM_001365536.1(SCN9A):c.*2540C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GBenign
Select item 331910	NM_001365536.1(SCN9A):c.*2344C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GConflicting classifications of pathogenicity
Select item 331911	NM_001365536.1(SCN9A):c.*2323G>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GBenign/Likely benign
Select item 331912	NM_001365536.1(SCN9A):c.*2312A>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GBenign/Likely benign
Select item 331913	NM_001365536.1(SCN9A):c.*2297A>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GBenign
Select item 331914	NM_001365536.1(SCN9A):c.*2228G>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GConflicting classifications of pathogenicity
Select item 331915	NM_001365536.1(SCN9A):c.*2226T>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GConflicting classifications of pathogenicity
Select item 331916	NM_001365536.1(SCN9A):c.*2222T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GUncertain significance
Select item 331917	NM_001365536.1(SCN9A):c.*2212T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GBenign/Likely benign
Select item 331918	NM_001365536.1(SCN9A):c.*2191G>A	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GConflicting classifications of pathogenicity
Select item 331919	NM_001365536.1(SCN9A):c.*2155G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331920	NM_001365536.1(SCN9A):c.*2154C>G	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +3 more	GBenign
Select item 331921	NM_001365536.1(SCN9A):c.*2146G>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331922	NM_001365536.1(SCN9A):c.*2136C>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331923	NM_001365536.1(SCN9A):c.*2078C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GConflicting classifications of pathogenicity
Select item 331924	NM_001365536.1(SCN9A):c.1960_1962dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Severe myoclonic epilepsy in infancy +6 more	GLikely benign
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 331925	NM_001365536.1(SCN9A):c.*1796C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331926	NM_001365536.1(SCN9A):c.*1774G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GBenign
Select item 331927	NM_001365536.1(SCN9A):c.*1770A>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 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 331928	NM_001365536.1(SCN9A):c.*1660G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GBenign
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 331929	NM_001365536.1(SCN9A):c.1605_1606del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GLikely benign
Select item 331931	NM_001365536.1(SCN9A):c.*1605T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GUncertain significance
Select item 331930	NM_001365536.1(SCN9A):c.*1605del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Congenital Indifference to Pain +3 more	GBenign
Select item 331932	NM_001365536.1(SCN9A):c.*1492C>G	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +3 more	GBenign
Select item 331933	NM_001365536.1(SCN9A):c.*1434dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GLikely benign
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 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 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 331934	NM_001365536.1(SCN9A):c.*1357C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GUncertain significance
Select item 331935	NM_001365536.1(SCN9A):c.*1184T>G	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331936	NM_001365536.1(SCN9A):c.1118_1119insCA	SCN1A-AS1, SCN9A	Insertion (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331937	NM_001365536.1(SCN9A):c.*1014G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GConflicting classifications of pathogenicity
Select item 331938	NM_001365536.1(SCN9A):c.*1013C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GBenign
Select item 331939	NM_001365536.1(SCN9A):c.*958C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331940	NM_001365536.1(SCN9A):c.*948G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GUncertain significance
Select item 331941	NM_001365536.1(SCN9A):c.*920T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GBenign/Likely benign
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 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 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 331942	NM_001365536.1(SCN9A):c.*798dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Congenital Indifference to Pain +6 more	GBenign
Select item 331943	NM_001365536.1(SCN9A):c.*785C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Small fiber neuropathy +3 more	GConflicting classifications of pathogenicity
Select item 331944	NM_001365536.1(SCN9A):c.771_772dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Congenital Indifference to Pain +3 more	GBenign
Select item 331945	NM_001365536.1(SCN9A):c.*669A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GConflicting classifications of pathogenicity
Select item 331946	NM_001365536.1(SCN9A):c.529_530del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331947	NM_001365536.1(SCN9A):c.*491del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GUncertain significance
Select item 331948	NM_001365536.1(SCN9A):c.*416dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
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 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 331949	NM_001365536.1(SCN9A):c.*377C>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GBenign/Likely benign
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 331950	NM_001365536.1(SCN9A):c.244_247dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
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 331951	NM_001365536.1(SCN9A):c.*237C>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +3 more	GBenign
Select item 331952	NM_001365536.1(SCN9A):c.*235T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331953	NM_001365536.1(SCN9A):c.*226A>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +3 more	GUncertain significance
Select item 331954	NM_001365536.1(SCN9A):c.*217G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal extreme pain disorder +3 more	GConflicting classifications of pathogenicity
Select item 331955	NM_001365536.1(SCN9A):c.*204G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 331956	NM_001365536.1(SCN9A):c.165_167dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Inherited Erythromelalgia +6 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 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 331957	NM_001365536.1(SCN9A):c.*129C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign
Select item 331958	NM_001365536.1(SCN9A):c.*125C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +3 more	GBenign/Likely benign
Select item 331959	NM_001365536.1(SCN9A):c.*124A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GConflicting classifications of pathogenicity
Select item 331960	NM_001365536.1(SCN9A):c.*18A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Inherited Erythromelalgia +3 more	GBenign/Likely benign
Select item 646093	NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)	SCN9A, SCN1A-AS1 (D1982V +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 196020	NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)	SCN1A-AS1, SCN9A (L1916F +1 more)	Single nucleotide variant (missense variant)	Inherited Erythromelalgia +7 more	GBenign/Likely benign
Select item 94092	NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)	SCN1A-AS1, SCN9A (D1919G)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +6 more	GBenign
Select item 234820	NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)	SCN1A-AS1, SCN9A (R1893H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
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 892606	NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His)	SCN1A-AS1, SCN9A (R1848H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +5 more	GUncertain significance
Select item 331961	NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Primary erythromelalgia +6 more	GConflicting classifications of pathogenicity
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 130272	NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Paroxysmal extreme pain disorder +7 more	GConflicting classifications of pathogenicity
Select item 130270	NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Inherited Erythromelalgia +7 more	GBenign
Select item 234412	NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)	SCN1A-AS1, SCN9A (W1538R +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +8 more	GBenign/Likely benign
Select item 331962	NM_001365536.1(SCN9A):c.4503+8_4503+9insT	SCN1A-AS1, SCN9A	Insertion (intron variant)	Generalized epilepsy with febrile seizures plus +8 more	GConflicting classifications of pathogenicity

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