"Mendelics"[submitter] AND "SCN5A"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68020	NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg)	SCN5A (L1987R +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 68015	NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)	SCN5A (R1957Q +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 48310	NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)	SCN5A (S1903L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 518750	NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)	SCN5A (R1897C +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 68003	NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)	SCN5A (R1896W +5 more)	Single nucleotide variant (missense variant)	not specified +13 more	GUncertain significance
Select item 9402	NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)	SCN5A (D1819N +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 67988	NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)	SCN5A (S1786N +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 264276	NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)	SCN5A (R1628* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 67912	NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)	SCN5A (V1531I +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179030	NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)	SCN5A (A1427S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 201505	NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)	SCN5A (A1356V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 201501	NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His)	SCN5A (R1308H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 67836	NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)	SCN5A (L1308F +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 67835	NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	SCN5A (T1303M +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 67801	NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)	SCN5A (A1179V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 801959	NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter)	SCN5A (Q1153* +2 more)	Single nucleotide variant (nonsense)	Brugada syndrome 1	GPathogenic
Select item 201494	NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)	SCN5A (S1134I +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GUncertain significance
Select item 67790	NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)	LOC110121269, SCN5A (E1106K +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 67782	NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)	LOC110121269, SCN5A (T1069M)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 67775	NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)	LOC110121269, SCN5A (R1023H)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 67772	NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)	LOC110121269, SCN5A (C1004R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 67763	NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)	LOC110121269, SCN5A (R965C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 67734	NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)	SCN5A (G833R)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 67721	NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)	SCN5A (E746K)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +11 more	GUncertain significance
Select item 67712	NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	SCN5A (Q692K)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 67710	NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)	SCN5A (R689H)	Single nucleotide variant (missense variant)	not specified +13 more	GUncertain significance
Select item 67701	NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp)	SCN5A (A647D)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +2 more	GUncertain significance
Select item 67692	NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)	SCN5A (L618F)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GBenign/Likely benign
Select item 48291	NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)	SCN5A	Deletion (inframe_deletion)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 67686	NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)	SCN5A (G579R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 67684	NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)	SCN5A (A572V)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 67682	NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser)	SCN5A (A572S)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 48289	NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	SCN5A (H558R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GBenign/Likely benign
Select item 67676	NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)	SCN5A (E555K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 191381	NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val)	SCN5A (A551V)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +11 more	GUncertain significance
Select item 67672	NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)	SCN5A (R535Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 67668	NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)	SCN5A (R526H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 48286	NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)	SCN5A (S524Y)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 10 +13 more	GBenign/Likely benign
Select item 463299	NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)	SCN5A (R458C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 67656	NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)	SCN5A (E446K)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +9 more	GConflicting classifications of pathogenicity
Select item 30046	NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)	SCN5A (H445D)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 67638	NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)	SCN5A (R376C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 67626	NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)	SCN5A (R340Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 463361	NM_000335.5(SCN5A):c.934+4C>T	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +11 more	GConflicting classifications of pathogenicity
Select item 68053	NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser)	SCN5A (G292S)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +10 more	GUncertain significance
Select item 68037	NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)	SCN5A (V232I)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 68034	NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)	SCN5A (A226V)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 68033	NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)	SCN5A (R225Q)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 68005	NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)	SCN5A (R190Q)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 67996	NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr)	SCN5A (A185T)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +2 more	GBenign/Likely benign
Select item 67927	NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)	SCN5A (E161K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 67886	NM_000335.5(SCN5A):c.436G>A (p.Val146Met)	SCN5A (V146M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180519	NM_000335.5(SCN5A):c.393-5C>A	SCN5A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 67821	NM_000335.5(SCN5A):c.373G>C (p.Val125Leu)	SCN5A (V125L)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GBenign/Likely benign
Select item 67761	NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)	SCN5A (V95I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 68043	NM_000335.5(SCN5A):c.80G>A (p.Arg27His)	SCN5A (R27H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 67978	NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	SCN5A (R18W)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +10 more	GConflicting classifications of pathogenicity

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Items: 57