"GeneDx"[submitter] AND "SCN5A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345075	NM_000335.5(SCN5A):c.*1537T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345076	NM_000335.5(SCN5A):c.*1496T>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 345077	NM_000335.5(SCN5A):c.*1453dup	SCN5A	Duplication (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +7 more	GBenign/Likely benign
Select item 345080	NM_000335.5(SCN5A):c.*1165C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345081	NM_000335.5(SCN5A):c.*1164G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 345087	NM_000335.5(SCN5A):c.*963C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345088	NM_000335.5(SCN5A):c.*962T>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345092	NM_000335.5(SCN5A):c.*753C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 900232	NM_000335.5(SCN5A):c.*614G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +6 more	GBenign/Likely benign
Select item 345107	NM_000335.5(SCN5A):c.*159C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345108	NM_000335.5(SCN5A):c.*123A>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 922754	NM_000335.5(SCN5A):c.*6G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 1186550	NM_000335.5(SCN5A):c.*5C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 925343	NM_000335.5(SCN5A):c.*1G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 382186	NM_000335.5(SCN5A):c.6027G>A (p.Arg2009=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 68026	NM_000335.5(SCN5A):c.6014C>T (p.Pro2005Leu)	SCN5A (P2005L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 68024	NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)	SCN5A (P2005A +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 201426	NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu)	SCN5A (P2004L +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 643050	NM_000335.5(SCN5A):c.6010C>T (p.Pro2004Ser)	SCN5A (P1986S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 201425	NM_000335.5(SCN5A):c.6008T>C (p.Phe2003Ser)	SCN5A (F2003S +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48315	NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)	SCN5A (F2003L +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +12 more	GConflicting classifications of pathogenicity
Select item 532063	NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn)	SCN5A (D2002N +5 more)	Single nucleotide variant (missense variant)	not specified +11 more	GUncertain significance
Select item 379004	NM_000335.5(SCN5A):c.6003C>T (p.Ala2001=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 229236	NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)	SCN5A (A2001T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 179813	NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 379095	NM_000335.5(SCN5A):c.5991T>C (p.Ser1997=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 201597	NM_000335.5(SCN5A):c.5982C>G (p.Tyr1994Ter)	SCN5A (Y1994* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 423111	NM_000335.5(SCN5A):c.5973dup (p.Ser1992fs)	SCN5A (S1974fs +5 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 68021	NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln)	SCN5A (R1990Q +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 1332066	NM_000335.5(SCN5A):c.5962C>T (p.Gln1988Ter)	SCN5A (Q1988* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 30045	NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)	SCN5A (N1986K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 926325	NM_000335.5(SCN5A):c.5953G>A (p.Asp1985Asn)	SCN5A (D1967N +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 48314	NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 520462	NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)	SCN5A (V1979F +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GConflicting classifications of pathogenicity
Select item 201548	NM_000335.5(SCN5A):c.5932A>T (p.Ser1978Cys)	SCN5A (S1978C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 68018	NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)	SCN5A (I1967M +5 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 48313	NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)	SCN5A (P1961L +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +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 201546	NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)	SCN5A (R1957* +5 more)	Single nucleotide variant (nonsense)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 48312	NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys)	SCN5A (E1953K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2501845	NM_000335.5(SCN5A):c.5849T>C (p.Val1950Ala)	SCN5A (V1897A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 68014	NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)	SCN5A (V1950M +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 216841	NM_000335.5(SCN5A):c.5846A>G (p.Tyr1949Cys)	SCN5A (Y1949C +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 201545	NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr)	SCN5A (A1948T +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome +10 more	GUncertain significance
Select item 68013	NM_000335.5(SCN5A):c.5842G>T (p.Ala1948Ser)	SCN5A (A1948S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48311	NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +11 more	GBenign/Likely benign
Select item 2662778	NM_000335.5(SCN5A):c.5834G>T (p.Gly1945Val)	SCN5A (G1892V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 449098	NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)	SCN5A (R1943Q +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 201596	NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)	SCN5A (R1943* +5 more)	Single nucleotide variant (nonsense)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 546557	NM_000335.5(SCN5A):c.5822_5823del (p.Pro1941fs)	SCN5A (P1909fs +5 more)	Deletion (frameshift variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1027588	NM_000335.5(SCN5A):c.5815G>A (p.Asp1939Asn)	SCN5A (D1886N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 68012	NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys)	SCN5A (E1937K +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 388740	NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +3 more	GLikely benign
Select item 201424	NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GBenign/Likely benign
Select item 1432998	NM_000335.5(SCN5A):c.5795G>C (p.Gly1932Ala)	SCN5A (G1914A +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 139067	NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 9381	NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)	SCN5A (A1924T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 68010	NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)	SCN5A (R1918C +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 201544	NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly)	SCN5A (R1913G +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
Select item 68009	NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)	SCN5A (R1912H +5 more)	Single nucleotide variant (missense variant)	not specified +11 more	GUncertain significance
Select item 68008	NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg)	SCN5A (Q1908R +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 413929	NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 48310	NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)	SCN5A (S1903L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 219835	NM_000335.5(SCN5A):c.5704G>T (p.Val1902Leu)	SCN5A (V1902L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 463351	NM_000335.5(SCN5A):c.5697C>T (p.His1899=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GLikely benign
Select item 207974	NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)	SCN5A (R1897H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 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 provided +13 more	GUncertain significance
Select item 413927	NM_000335.5(SCN5A):c.5673C>T (p.Ile1891=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 375856	NM_000335.5(SCN5A):c.5665G>A (p.Glu1889Lys)	SCN5A (E1889K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 923312	NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GBenign/Likely benign
Select item 463350	NM_000335.5(SCN5A):c.5663A>G (p.Tyr1888Cys)	SCN5A (Y1889C +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 392611	NM_000335.5(SCN5A):c.5661C>T (p.Ser1887=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 449118	NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu)	SCN5A (P1883L +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 463349	NM_000335.5(SCN5A):c.5643C>T (p.Ala1881=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GLikely benign
Select item 965989	NM_000335.5(SCN5A):c.5623GAG[1] (p.Glu1876del)	SCN5A (E1844del +5 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 201542	NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys)	SCN5A (E1875K +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 68002	NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr)	SCN5A (M1874T +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 227933	NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 1196753	NM_000335.5(SCN5A):c.5592T>G (p.Ser1864=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 201541	NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp)	SCN5A (E1863D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +3 more	GUncertain significance
Select item 920511	NM_000335.5(SCN5A):c.5587G>A (p.Glu1863Lys)	SCN5A (E1863K +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1215136	NM_000335.5(SCN5A):c.5561T>C (p.Phe1854Ser)	SCN5A (F1801S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389661	NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 387192	NM_000335.5(SCN5A):c.5556T>C (p.Ile1852=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1303567	NM_000335.5(SCN5A):c.5541_5549del (p.Ile1847_Cys1849del)	SCN5A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 201563	NM_000335.5(SCN5A):c.5526_5540del (p.Ser1843_Ile1847del)	SCN5A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 48309	NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)	SCN5A (R1846H +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 421845	NM_000335.5(SCN5A):c.5536C>T (p.Arg1846Cys)	SCN5A (R1846C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420342	NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs)	SCN5A (G1826fs +5 more)	Duplication (frameshift variant)	Brugada syndrome +1 more	GLikely pathogenic
Select item 392829	NM_000335.5(SCN5A):c.5508C>A (p.Asn1836Lys)	SCN5A (N1836K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381984	NM_000335.5(SCN5A):c.5508C>T (p.Asn1836=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 39445	NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)	SCN5A (I1835T +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 849163	NM_000335.5(SCN5A):c.5496A>G (p.Ile1832Met)	SCN5A (I1815M +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 48308	NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)	SCN5A (Q1831E +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 201539	NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr)	SCN5A (A1827T +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 178129	NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 386843	NM_000335.5(SCN5A):c.5475T>A (p.Arg1825=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 9389	NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)	SCN5A (R1826H +5 more)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance

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