SCN1A-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	GALNT3, LOC100506124 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
Select item 153359	GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1	CSRNP3, GALNT3 +14 more	Copy number loss	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 655230	NC_000002.11:g.(?_166152314)_(167108415_?)dup	CSRNP3, LOC102724058 +14 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 146138	GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 58906	GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 471073	NC_000002.12:g.(?_165874735)_(166311776_?)del	LOC102724058, LOC129935046 +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 147966	GRCh38/hg38 2q24.3(chr2:165888312-166185811)x1	LOC102724058, LOC129935047 +4 more	Copy number loss	See cases	GPathogenic
Select item 154605	GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1	LOC102724058, SCN1A +3 more	Copy number loss	See cases	GPathogenic
Select item 68592	NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	SCN1A-AS1, SCN1A (R848C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 998557	NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn)	SCN1A, SCN1A-AS1 (T160N)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 584051	NC_000002.11:g.(?_166929868)_(167056374_?)dup	SCN1A, SCN1A-AS1 +1 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 417445	NC_000002.12:g.(?_166195185)_(166204464_?)del	SCN1A-AS1, SCN9A	Deletion	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
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)	Primary erythromelalgia +4 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	SCN9A, SCN1A-AS1	Single nucleotide variant (3 prime UTR variant)	Small fiber neuropathy +4 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)	not provided +4 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	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Primary erythromelalgia +4 more	GBenign
Select item 331921	NM_001365536.1(SCN9A):c.*2146G>C	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 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)	Primary erythromelalgia +4 more	GBenign
Select item 331926	NM_001365536.1(SCN9A):c.*1774G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (3 prime UTR variant)	Small fiber neuropathy +4 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)	Primary erythromelalgia +4 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)	Paroxysmal extreme pain disorder +3 more	GUncertain significance

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