ClinVar for Gene (Select 6335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369752	NM_001365536.1(SCN9A):c.5791_5794dup (p.Met1932fs)	SCN1A-AS1, SCN9A (M1921fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3368622	NM_001365536.1(SCN9A):c.490A>G (p.Thr164Ala)	SCN9A (T164A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366169	NM_001365536.1(SCN9A):c.2732A>G (p.Asn911Ser)	SCN1A-AS1, SCN9A (N900S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362848	NM_001365536.1(SCN9A):c.703_709delinsCAGGCCTGAAGA (p.Val235_Ala237delinsGlnAlaTer)	SCN9A	Indel (nonsense)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive	GUncertain significance
Select item 3359804	NM_001365536.1(SCN9A):c.5417C>T (p.Ala1806Val)	SCN9A (A1795V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345361	NM_001365536.1(SCN9A):c.1671C>G (p.Phe557Leu)	SCN1A-AS1, SCN9A (F557L)	Single nucleotide variant (missense variant)	SCN9A-related disorder	GUncertain significance
Select item 3342027	NM_001365536.1(SCN9A):c.3622G>A (p.Ala1208Thr)	SCN1A-AS1, SCN9A (A1197T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316632	NM_001365536.1(SCN9A):c.5510A>C (p.His1837Pro)	SCN1A-AS1, SCN9A (H1837P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316631	NM_001365536.1(SCN9A):c.3221G>A (p.Ser1074Asn)	SCN1A-AS1, SCN9A (S1063N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316630	NM_001365536.1(SCN9A):c.751C>G (p.Leu251Val)	SCN9A (L251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316629	NM_001365536.1(SCN9A):c.5934C>G (p.Asp1978Glu)	SCN1A-AS1, SCN9A (D1967E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316628	NM_001365536.1(SCN9A):c.1246G>A (p.Ala416Thr)	SCN1A-AS1, SCN9A (A416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316627	NM_001365536.1(SCN9A):c.1625C>T (p.Ser542Phe)	SCN1A-AS1, SCN9A (S542F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316626	NM_001365536.1(SCN9A):c.2111A>T (p.Glu704Val)	SCN1A-AS1, SCN9A (E693V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256836	NM_001365536.1(SCN9A):c.377+94A>G	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256834	NM_001365536.1(SCN9A):c.377+93G>T	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256797	NM_001365536.1(SCN9A):c.3802-70C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255305	NM_001365536.1(SCN9A):c.2518-80C>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255304	NM_001365536.1(SCN9A):c.3628-58dup	SCN1A-AS1, SCN9A	Duplication (intron variant)	not specified	GBenign
Select item 3255293	NM_001365536.1(SCN9A):c.1975-72dup	SCN1A-AS1, SCN9A	Duplication (intron variant)	not specified	GBenign
Select item 3255292	NM_001365536.1(SCN9A):c.2517+72A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255286	NM_001365536.1(SCN9A):c.1974+8C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255272	NM_001365536.1(SCN9A):c.4775-54C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255267	NM_001365536.1(SCN9A):c.4206+77A>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255241	NM_001365536.1(SCN9A):c.378-90T>A	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255239	NM_001365536.1(SCN9A):c.259-79G>A	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255235	NM_001365536.1(SCN9A):c.3352-7381G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3252636	NM_001365536.1(SCN9A):c.1229A>C (p.Gln410Pro)	SCN1A-AS1, SCN9A (Q410P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251078	NM_001365536.1(SCN9A):c.4698G>T (p.Leu1566=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247364	NC_000002.11:g.(?_167136847)_(167168266_?)dup	SCN9A	Duplication	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 3247363	NC_000002.11:g.(?_166847755)_(167168266_?)dup	SCN9A, SCN1A	Duplication	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 3247191	NC_000002.11:g.(?_166908209)_(167168266_?)del	SCN1A, SCN9A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247187	NC_000002.11:g.(?_166929848)_(167168266_?)del	SCN1A, SCN9A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3236177	NM_001365536.1(SCN9A):c.5060G>A (p.Ser1687Asn)	SCN1A-AS1, SCN9A (S1676N +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GUncertain significance
Select item 3158580	NM_001365536.1(SCN9A):c.5278C>A (p.Leu1760Met)	SCN1A-AS1, SCN9A (L1749M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158577	NM_001365536.1(SCN9A):c.3010C>G (p.Gln1004Glu)	SCN1A-AS1, SCN9A (Q993E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158575	NM_001365536.1(SCN9A):c.1120G>T (p.Ala374Ser)	SCN1A-AS1, SCN9A (A374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063713	NM_001365536.1(SCN9A):c.1415G>T (p.Ser472Ile)	SCN1A-AS1, SCN9A (S472I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3061499	NM_001365536.1(SCN9A):c.3180T>C (p.Ser1060=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related disorder	GLikely benign
Select item 3061465	NM_001365536.1(SCN9A):c.684C>T (p.Ile228=)	SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related disorder	GLikely benign
Select item 3049456	NM_001365536.1(SCN9A):c.1974+9_1974+15del	SCN1A-AS1, SCN9A	Deletion (intron variant)	SCN9A-related disorder	GLikely benign
Select item 3041636	NM_001365536.1(SCN9A):c.1974+9G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	SCN9A-related disorder	GBenign
Select item 2954532	NM_001365536.1(SCN9A):c.5401A>G (p.Lys1801Glu)	SCN1A-AS1, SCN9A (K1790E +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954519	NM_001365536.1(SCN9A):c.3979G>T (p.Val1327Leu)	SCN1A-AS1, SCN9A (V1327L +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954386	NM_001365536.1(SCN9A):c.993G>T (p.Val331=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954382	NM_001365536.1(SCN9A):c.5185G>A (p.Asp1729Asn)	SCN1A-AS1, SCN9A (D1729N +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954372	NM_001365536.1(SCN9A):c.3430G>A (p.Glu1144Lys)	SCN1A-AS1, SCN9A (E1144K +1 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954209	NM_001365536.1(SCN9A):c.3724C>G (p.Leu1242Val)	SCN1A-AS1, SCN9A (L1231V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954118	NM_001365536.1(SCN9A):c.2343+16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2954115	NM_001365536.1(SCN9A):c.1047G>C (p.Trp349Cys)	SCN1A-AS1, SCN9A (W349C)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954073	NM_001365536.1(SCN9A):c.4911G>A (p.Leu1637=)	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2954032	NM_001365536.1(SCN9A):c.3129T>G (p.Leu1043=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2953978	NM_001365536.1(SCN9A):c.5196C>G (p.Asn1732Lys)	SCN1A-AS1, SCN9A (N1721K +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2953870	NM_001365536.1(SCN9A):c.1635T>C (p.Ser545=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2953710	NM_001365536.1(SCN9A):c.2517+12C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2953346	NM_001365536.1(SCN9A):c.5616T>C (p.Pro1872=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2953261	NM_001365536.1(SCN9A):c.828T>C (p.Phe276=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2953189	NM_001365536.1(SCN9A):c.2069T>C (p.Met690Thr)	SCN1A-AS1, SCN9A (M679T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2953061	NM_001365536.1(SCN9A):c.5408C>T (p.Ser1803Phe)	SCN1A-AS1, SCN9A (S1792F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952989	NM_001365536.1(SCN9A):c.4493C>T (p.Pro1498Leu)	SCN1A-AS1, SCN9A (P1487L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952949	NM_001365536.1(SCN9A):c.1344_1345dup (p.Ser449fs)	SCN9A, SCN1A-AS1 (S449fs)	Duplication (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 2952947	NM_001365536.1(SCN9A):c.720G>T (p.Gln240His)	SCN9A (Q240H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952931	NM_001365536.1(SCN9A):c.4261-17T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952927	NM_001365536.1(SCN9A):c.5309G>C (p.Ser1770Thr)	SCN1A-AS1, SCN9A (S1759T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952669	NM_001365536.1(SCN9A):c.4788T>A (p.Ala1596=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952635	NM_001365536.1(SCN9A):c.1797C>A (p.Ser599Arg)	SCN1A-AS1, SCN9A (S599R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952553	NM_001365536.1(SCN9A):c.4887G>T (p.Gly1629=)	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952498	NM_001365536.1(SCN9A):c.5232CAT[1] (p.Ile1746del)	SCN1A-AS1, SCN9A (I1746del +1 more)	Microsatellite (inframe_deletion +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952429	NM_001365536.1(SCN9A):c.2247A>C (p.Ala749=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952426	NM_001365536.1(SCN9A):c.4503+14T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952363	NM_001365536.1(SCN9A):c.3884del (p.Ala1294_Leu1295insTer)	SCN1A-AS1, SCN9A	Deletion (nonsense +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 2952247	NM_001365536.1(SCN9A):c.4877G>A (p.Gly1626Glu)	SCN1A-AS1, SCN9A (G1626E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952015	NM_001365536.1(SCN9A):c.641G>T (p.Arg214Leu)	SCN9A (R214L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951951	NM_001365536.1(SCN9A):c.320A>G (p.Tyr107Cys)	SCN9A (Y107C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951870	NM_001365536.1(SCN9A):c.4270C>A (p.Gln1424Lys)	SCN1A-AS1, SCN9A (Q1413K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951793	NM_001365536.1(SCN9A):c.5687T>C (p.Ile1896Thr)	SCN1A-AS1, SCN9A (I1885T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951779	NM_001365536.1(SCN9A):c.3386C>G (p.Thr1129Arg)	SCN1A-AS1, SCN9A (T1118R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951773	NM_001365536.1(SCN9A):c.1076C>G (p.Thr359Ser)	SCN1A-AS1, SCN9A (T359S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951681	NM_001365536.1(SCN9A):c.5566A>G (p.Met1856Val)	SCN1A-AS1, SCN9A (M1856V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951673	NM_001365536.1(SCN9A):c.5763C>T (p.Asp1921=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951630	NM_001365536.1(SCN9A):c.3131C>A (p.Ala1044Asp)	SCN1A-AS1, SCN9A (A1033D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951201	NM_001365536.1(SCN9A):c.2875-12A>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951123	NM_001365536.1(SCN9A):c.689-17T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951110	NM_001365536.1(SCN9A):c.5440C>T (p.Leu1814Phe)	SCN1A-AS1, SCN9A (L1814F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951044	NM_001365536.1(SCN9A):c.667A>G (p.Lys223Glu)	SCN9A (K223E)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950637	NM_001365536.1(SCN9A):c.197T>C (p.Ile66Thr)	SCN9A (I66T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950635	NM_001365536.1(SCN9A):c.4774+12T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950634	NM_001365536.1(SCN9A):c.4774+13_4774+16del	SCN1A-AS1, SCN9A	Microsatellite (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950616	NM_001365536.1(SCN9A):c.2343+13T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950481	NM_001365536.1(SCN9A):c.1712C>T (p.Ala571Val)	SCN1A-AS1, SCN9A (A571V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950417	NM_001365536.1(SCN9A):c.3581T>C (p.Phe1194Ser)	SCN1A-AS1, SCN9A (F1194S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950314	NM_001365536.1(SCN9A):c.1330G>A (p.Ala444Thr)	SCN1A-AS1, SCN9A (A444T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950249	NM_001365536.1(SCN9A):c.4155G>A (p.Leu1385=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950214	NM_001365536.1(SCN9A):c.540A>C (p.Glu180Asp)	SCN9A (E180D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950147	NM_001365536.1(SCN9A):c.757G>A (p.Val253Met)	SCN9A (V253M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950135	NM_001365536.1(SCN9A):c.2684G>A (p.Cys895Tyr)	SCN1A-AS1, SCN9A (C884Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950133	NM_001365536.1(SCN9A):c.3336T>A (p.Ser1112Arg)	SCN1A-AS1, SCN9A (S1112R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance

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