SCN9A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2078994	NM_001365536.1(SCN9A):c.901+15G>T	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2033423	NM_001365536.1(SCN9A):c.901+14T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 573325	NM_001365536.1(SCN9A):c.901+5G>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 956002	NM_001365536.1(SCN9A):c.901+4A>C	SCN9A	Single nucleotide variant (intron 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 538438	NM_001365536.1(SCN9A):c.900A>G (p.Arg300=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 373380	NM_001365536.1(SCN9A):c.892G>A (p.Asp298Asn)	SCN9A (D298N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1123273	NM_001365536.1(SCN9A):c.891A>G (p.Glu297=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 471168	NM_001365536.1(SCN9A):c.882G>A (p.Glu294=)	SCN9A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 471167	NM_001365536.1(SCN9A):c.880G>A (p.Glu294Lys)	SCN9A (E294K)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1545100	NM_001365536.1(SCN9A):c.879A>G (p.Leu293=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1063492	NM_001365536.1(SCN9A):c.878T>A (p.Leu293Gln)	SCN9A (L293Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1060982	NM_001365536.1(SCN9A):c.877C>A (p.Leu293Ile)	SCN9A (L293I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1157179	NM_001365536.1(SCN9A):c.876C>T (p.Thr292=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1567605	NM_001365536.1(SCN9A):c.873T>C (p.Asn291=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2170411	NM_001365536.1(SCN9A):c.869T>C (p.Met290Thr)	SCN9A (M290T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2011081	NM_001365536.1(SCN9A):c.866T>C (p.Ile289Thr)	SCN9A (I289T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1366019	NM_001365536.1(SCN9A):c.865A>G (p.Ile289Val)	SCN9A (I289V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 501209	NM_001365536.1(SCN9A):c.861A>G (p.Glu287=)	SCN9A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 471166	NM_001365536.1(SCN9A):c.856T>A (p.Leu286Ile)	SCN9A (L286I)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 649291	NM_001365536.1(SCN9A):c.854C>T (p.Thr285Ile)	SCN9A (T285I)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1142612	NM_001365536.1(SCN9A):c.849T>C (p.Asn283=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 452227	NM_001365536.1(SCN9A):c.847A>T (p.Asn283Tyr)	SCN9A (N283Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752114	NM_001365536.1(SCN9A):c.846T>C (p.Asn282=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1063846	NM_001365536.1(SCN9A):c.838C>T (p.Leu280Phe)	SCN9A (L280F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 794320	NM_001365536.1(SCN9A):c.831A>G (p.Arg277=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 69411	NM_001365536.1(SCN9A):c.830G>A (p.Arg277Gln)	SCN9A (R277Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
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 6362	NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter)	SCN9A (R277*)	Single nucleotide variant (nonsense)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic
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 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 2497881	NM_001365536.1(SCN9A):c.817C>T (p.His273Tyr)	SCN9A (H273Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2945396	NM_001365536.1(SCN9A):c.814A>G (p.Lys272Glu)	SCN9A (K272E)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1762071	NM_001365536.1(SCN9A):c.811C>A (p.Leu271Met)	SCN9A (L271M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1378115	NM_001365536.1(SCN9A):c.802A>G (p.Met268Val)	SCN9A (M268V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 388095	NM_001365536.1(SCN9A):c.798G>A (p.Leu266=)	SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related condition +4 more	GLikely benign
Select item 639465	NM_001365536.1(SCN9A):c.796C>A (p.Leu266Met)	SCN9A (L266M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1003757	NM_001365536.1(SCN9A):c.794A>G (p.Gln265Arg)	SCN9A (Q265R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1057246	NM_001365536.1(SCN9A):c.786T>G (p.Ile262Met)	SCN9A (I262M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 471165	NM_001365536.1(SCN9A):c.785T>C (p.Ile262Thr)	SCN9A (I262T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1123734	NM_001365536.1(SCN9A):c.780A>G (p.Ala260=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1447984	NM_001365536.1(SCN9A):c.775T>C (p.Phe259Leu)	SCN9A (F259L)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 700566	NM_001365536.1(SCN9A):c.774G>A (p.Val258=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 960350	NM_001365536.1(SCN9A):c.773T>G (p.Val258Gly)	SCN9A (V258G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1054352	NM_001365536.1(SCN9A):c.772G>A (p.Val258Met)	SCN9A (V258M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1999242	NM_001365536.1(SCN9A):c.768G>C (p.Leu256=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
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 570466	NM_001365536.1(SCN9A):c.759_760del (p.Phe254fs)	SCN9A (F254fs)	Microsatellite (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
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 2940331	NM_001365536.1(SCN9A):c.751C>T (p.Leu251=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1105588	NM_001365536.1(SCN9A):c.750C>A (p.Ile250=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 471164	NM_001365536.1(SCN9A):c.750C>T (p.Ile250=)	SCN9A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 836587	NM_001365536.1(SCN9A):c.748A>G (p.Ile250Val)	SCN9A (I250V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1382379	NM_001365536.1(SCN9A):c.745A>G (p.Met249Val)	SCN9A (M249V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 471163	NM_001365536.1(SCN9A):c.745A>T (p.Met249Leu)	SCN9A (M249L)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2947922	NM_001365536.1(SCN9A):c.742G>T (p.Val248Phe)	SCN9A (V248F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1040594	NM_001365536.1(SCN9A):c.739G>C (p.Asp247His)	SCN9A (D247H)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1036912	NM_001365536.1(SCN9A):c.739G>A (p.Asp247Asn)	SCN9A (D247N)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1976489	NM_001365536.1(SCN9A):c.733C>A (p.Leu245Ile)	SCN9A (L245I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 946593	NM_001365536.1(SCN9A):c.724G>C (p.Val242Leu)	SCN9A (V242L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1630262	NM_001365536.1(SCN9A):c.723A>T (p.Ser241=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 6351	NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)	SCN9A (S241T)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GConflicting classifications of pathogenicity
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 1009477	NM_001365536.1(SCN9A):c.715A>G (p.Ile239Val)	SCN9A (I239V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1444522	NM_001365536.1(SCN9A):c.714G>T (p.Leu238Phe)	SCN9A (L238F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1310205	NM_001365536.1(SCN9A):c.713T>C (p.Leu238Ser)	SCN9A (L238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2929570	NM_001365536.1(SCN9A):c.708G>A (p.Gly236=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1420779	NM_001365536.1(SCN9A):c.706G>A (p.Gly236Arg)	SCN9A (G236R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2012118	NM_001365536.1(SCN9A):c.704T>C (p.Val235Ala)	SCN9A (V235A)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 915877	NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)	SCN9A (I234T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GPathogenic
Select item 245762	NM_001365536.1(SCN9A):c.695A>G (p.Lys232Arg)	SCN9A (K232R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 471162	NM_001365536.1(SCN9A):c.690_691delinsAT (p.Gly230_Leu231=)	SCN9A	Indel (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2937948	NM_001365536.1(SCN9A):c.689G>A (p.Gly230Asp)	SCN9A (G230D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 538479	NM_001365536.1(SCN9A):c.689-6T>A	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 501571	NM_001365536.1(SCN9A):c.689-6T>C	SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GConflicting classifications of pathogenicity
Select item 2152836	NM_001365536.1(SCN9A):c.689-12T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2945535	NM_001365536.1(SCN9A):c.689-15T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1993563	NM_001365536.1(SCN9A):c.689-16T>G	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 1598119	NM_001365536.1(SCN9A):c.689-20C>A	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 682294	NM_001365536.1(SCN9A):c.689-20C>G	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign/Likely benign
Select item 1612077	NM_001365536.1(SCN9A):c.688+19G>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 139076	NM_001365536.1(SCN9A):c.688+13T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GBenign
Select item 198152	NM_001365536.1(SCN9A):c.688+9T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GConflicting classifications of pathogenicity
Select item 2935904	NM_001365536.1(SCN9A):c.688+8G>T	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1083183	NM_001365536.1(SCN9A):c.688+8G>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 331998	NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)	SCN9A (P229T)	Single nucleotide variant (missense variant)	Small fiber neuropathy +5 more	GConflicting classifications of pathogenicity
Select item 3061465	NM_001365536.1(SCN9A):c.684C>T (p.Ile228=)	SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related condition	GLikely benign
Select item 198153	NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)	SCN9A (I228M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +8 more	GConflicting classifications of pathogenicity
Select item 2925169	NM_001365536.1(SCN9A):c.672T>C (p.Thr224=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1612951	NM_001365536.1(SCN9A):c.672T>G (p.Thr224=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 750173	NM_001365536.1(SCN9A):c.672T>A (p.Thr224=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
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 1710567	NM_001365536.1(SCN9A):c.660A>C (p.Arg220Ser)	SCN9A (R220S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 663467	NM_001365536.1(SCN9A):c.657G>C (p.Leu219Phe)	SCN9A (L219F)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1611350	NM_001365536.1(SCN9A):c.655T>C (p.Leu219=)	SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2153746	NM_001365536.1(SCN9A):c.652G>A (p.Val218Ile)	SCN9A (V218I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2006927	NM_001365536.1(SCN9A):c.650_651delinsCT (p.Arg217Thr)	SCN9A (R217T)	Indel (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 6365	NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)	SCN9A (F216S)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GPathogenic
Select item 498084	NM_001365536.1(SCN9A):c.642A>G (p.Arg214=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GConflicting classifications of pathogenicity

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