"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SCN10A"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 567996	NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)	SCN10A (A1899fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 941023	NM_006514.4(SCN10A):c.5630C>T (p.Pro1877Leu)	SCN10A (P1779L +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1380283	NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln)	SCN10A (R1765Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 430247	NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)	SCN10A (Q1850* +2 more)	Single nucleotide variant (nonsense)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 452050	NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter)	SCN10A (R1847* +2 more)	Single nucleotide variant (nonsense)	Episodic pain syndrome, familial, 2 +3 more	GUncertain significance
Select item 532083	NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys)	SCN10A (E1734K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1346620	NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser)	SCN10A (N1725S +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 463263	NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser)	SCN10A (P1683S +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GBenign/Likely benign
Select item 414633	NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)	SCN10A (G1662S +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +5 more	GBenign/Likely benign
Select item 418471	NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)	SCN10A (V1617F +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GConflicting classifications of pathogenicity
Select item 520456	NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)	SCN10A (G1611R +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GUncertain significance
Select item 1002301	NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys)	SCN10A (R1496C +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GUncertain significance
Select item 504372	NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs)	SCN10A (I1593fs +2 more)	Duplication (frameshift variant)	Episodic pain syndrome, familial, 2 +3 more	GUncertain significance
Select item 381544	NM_006514.4(SCN10A):c.4763G>A (p.Arg1588Gln)	SCN10A (R1588Q +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GUncertain significance
Select item 1423696	NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys)	SCN10A (R1478C +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 463259	NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met)	SCN10A (T1570M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1524842	NM_006514.4(SCN10A):c.4657+5G>A	SCN10A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 240677	NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val)	SCN10A (A1552V +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GUncertain significance
Select item 1429429	NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg)	SCN10A (T1535R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 575624	NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met)	SCN10A (T1505M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 414630	NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=)	SCN10A	Single nucleotide variant (synonymous variant)	Episodic pain syndrome, familial, 2 +3 more	GBenign/Likely benign
Select item 532127	NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln)	SCN10A (R1380Q +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 380953	NM_006514.4(SCN10A):c.4089+12A>T	SCN10A	Single nucleotide variant (intron variant)	Episodic pain syndrome, familial, 2 +2 more	GBenign/Likely benign
Select item 569584	NM_006514.4(SCN10A):c.3943G>A (p.Asp1315Asn)	SCN10A (D1315N +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 89015	NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr)	SCN10A (A1304T +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GUncertain significance
Select item 1051108	NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser)	SCN10A (I1199S +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GUncertain significance
Select item 1468227	NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp)	SCN10A (R1268W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1025258	NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg)	SCN10A (M1169R +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GUncertain significance
Select item 1429567	NM_006514.4(SCN10A):c.3727G>A (p.Val1243Met)	SCN10A (V1145M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 463249	NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)	LOC110121288, SCN10A (M1161T +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GConflicting classifications of pathogenicity
Select item 373688	NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)	LOC110121288, SCN10A (I1158M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 856004	NM_006514.4(SCN10A):c.3421G>A (p.Val1141Met)	LOC110121288, SCN10A (V1140M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 532064	NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys)	LOC110121288, SCN10A (W1139C +2 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 414622	NM_006514.4(SCN10A):c.3291C>G (p.Ile1097Met)	LOC110121288, SCN10A (I1097M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 532170	NM_006514.4(SCN10A):c.3237C>T (p.Asp1079=)	LOC110121288, SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 389550	NM_006514.4(SCN10A):c.3229-20C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Episodic pain syndrome, familial, 2 +2 more	GBenign
Select item 384708	NM_006514.4(SCN10A):c.3087+15C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	Episodic pain syndrome, familial, 2 +3 more	GBenign/Likely benign
Select item 1042304	NM_006514.4(SCN10A):c.2965G>A (p.Ala989Thr)	LOC110121288, SCN10A (A891T +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1384809	NM_006514.4(SCN10A):c.2923C>T (p.Gln975Ter)	LOC110121288, SCN10A (Q975* +1 more)	Single nucleotide variant (nonsense)	Episodic pain syndrome, familial, 2 +1 more	GUncertain significance
Select item 407748	NM_006514.4(SCN10A):c.2842G>C (p.Val948Leu)	LOC110121288, SCN10A (V948L +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 695801	NM_006514.4(SCN10A):c.2737G>A (p.Ala913Thr)	SCN10A (A815T +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GLikely benign
Select item 463243	NM_006514.4(SCN10A):c.2709C>T (p.Asp903=)	SCN10A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1197572	NM_006514.4(SCN10A):c.2677_2678del (p.Phe893fs)	SCN10A (F795fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1006881	NM_006514.4(SCN10A):c.2616G>A (p.Thr872=)	SCN10A	Single nucleotide variant (synonymous variant)	Episodic pain syndrome, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 453095	NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val)	SCN10A (I865V +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GUncertain significance
Select item 645971	NM_006514.4(SCN10A):c.2579T>C (p.Val860Ala)	SCN10A (V860A +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +1 more	GUncertain significance
Select item 463240	NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val)	SCN10A (A822V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 420025	NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)	SCN10A (R814H +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +4 more	GConflicting classifications of pathogenicity
Select item 463239	NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)	SCN10A (G810W +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 418470	NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys)	SCN10A (N789K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GUncertain significance
Select item 1153876	NM_006514.4(SCN10A):c.2324C>T (p.Thr775Ile)	SCN10A (T677I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GLikely benign
Select item 568896	NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly)	SCN10A (R759G +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 532059	NM_006514.4(SCN10A):c.2266C>T (p.Arg756Trp)	SCN10A (R756W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1046224	NM_006514.4(SCN10A):c.2221C>G (p.Leu741Val)	SCN10A (L741V +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GConflicting classifications of pathogenicity
Select item 948735	NM_006514.4(SCN10A):c.2195T>C (p.Phe732Ser)	SCN10A (F634S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 532067	NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn)	SCN10A (D720N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 532153	NM_006514.4(SCN10A):c.2106+8C>T	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GLikely benign
Select item 1617919	NM_006514.4(SCN10A):c.1867+8C>T	SCN10A	Single nucleotide variant (intron variant)	Episodic pain syndrome, familial, 2 +1 more	GLikely benign
Select item 407745	NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile)	SCN10A (V620I +1 more)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 463235	NM_006514.4(SCN10A):c.1768G>A (p.Gly590Arg)	SCN10A (G590R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 568664	NM_006514.4(SCN10A):c.1489C>T (p.Arg497Cys)	SCN10A (R497C)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 463233	NM_006514.4(SCN10A):c.1454G>A (p.Arg485His)	SCN10A (R485H)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 240663	NM_006514.4(SCN10A):c.1430C>T (p.Pro477Leu)	SCN10A (P477L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 641772	NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala)	SCN10A (T439A)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 240662	NM_006514.4(SCN10A):c.1277G>A (p.Arg426Gln)	SCN10A (R426Q)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 572815	NM_006514.4(SCN10A):c.1276C>T (p.Arg426Trp)	SCN10A (R426W)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GConflicting classifications of pathogenicity
Select item 857220	NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val)	SCN10A (A399V)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +2 more	GUncertain significance
Select item 414629	NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile)	SCN10A (V380I)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GLikely benign
Select item 532060	NM_006514.4(SCN10A):c.1093-3C>A	SCN10A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 569678	NM_006514.4(SCN10A):c.1052G>A (p.Arg351His)	SCN10A (R351H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 848722	NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys)	SCN10A (R351C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 506747	NM_006514.4(SCN10A):c.950+17T>C	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome +3 more	GBenign/Likely benign
Select item 376797	NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)	SCN10A (R302Q)	Single nucleotide variant (missense variant)	Episodic pain syndrome, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 463273	NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser)	SCN10A (P295S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1057701	NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser)	SCN10A (T287S)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 449360	NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)	SCN10A (S242T)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GConflicting classifications of pathogenicity
Select item 463260	NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)	SCN10A (Y158D)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1299339	NM_006514.4(SCN10A):c.434T>C (p.Val145Ala)	SCN10A (V145A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 937648	NM_006514.4(SCN10A):c.299C>A (p.Thr100Asn)	SCN10A (T100N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1381378	NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg)	SCN10A (P53R)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 1433807	NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu)	SCN10A (F16L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 414623	NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu)	SCN10A (R14L)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GBenign/Likely benign

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Items: 82