C0003811[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178876	NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)	RYR2 (L49F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 43790	NM_001035.3(RYR2):c.464-8A>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GBenign
Select item 43817	NM_001035.3(RYR2):c.677-11T>A	RYR2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +6 more	GBenign
Select item 43728	NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GBenign
Select item 43763	NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GBenign
Select item 36740	NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)	RYR2 (R1084K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 36742	NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)	LOC126806067, RYR2 (M1347R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 36745	NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 43819	NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +7 more	GBenign
Select item 36749	NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GBenign/Likely benign
Select item 43827	NM_001035.3(RYR2):c.7806C>T (p.His2602=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 43836	NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +8 more	GBenign/Likely benign
Select item 43699	NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign
Select item 43702	NM_001035.3(RYR2):c.10776C>T (p.Ser3592=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GBenign
Select item 43716	NM_001035.3(RYR2):c.11963-11T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign
Select item 43731	NM_001035.3(RYR2):c.13783-6A>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign
Select item 2774429	NM_000335.5(SCN5A):c.6026_*24del (p.Arg2009fs)	SCN5A (R1992fs +5 more)	Deletion (frameshift variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 922754	NM_000335.5(SCN5A):c.*6G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 925343	NM_000335.5(SCN5A):c.*1G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 1171616	NM_000335.5(SCN5A):c.6047G>A (p.Ter2016=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506123	NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)	SCN5A (V1962E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 201549	NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)	SCN5A (V2015M +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 68027	NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)	SCN5A (R2011C +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 382186	NM_000335.5(SCN5A):c.6027G>A (p.Arg2009=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 920643	NM_000335.5(SCN5A):c.6025A>G (p.Arg2009Gly)	SCN5A (R1977G +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 840267	NM_000335.5(SCN5A):c.6024C>G (p.Asp2008Glu)	SCN5A (D1990E +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 571486	NM_000335.5(SCN5A):c.6021G>A (p.Pro2007=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 629750	NM_000335.5(SCN5A):c.6020C>T (p.Pro2007Leu)	SCN5A (P2007L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 2774430	NM_000335.5(SCN5A):c.6013C>A (p.Pro2005Thr)	SCN5A (P1952T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 68024	NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)	SCN5A (P2005A +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +10 more	GConflicting classifications of pathogenicity
Select item 1633657	NM_000335.5(SCN5A):c.6012C>T (p.Pro2004=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 1172000	NM_000335.5(SCN5A):c.6011C>A (p.Pro2004His)	SCN5A (P1951H +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
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 928274	NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile)	SCN5A (F1971I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 68022	NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)	SCN5A (F2003V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +7 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)	Cardiac arrhythmia +12 more	GConflicting classifications of pathogenicity
Select item 379004	NM_000335.5(SCN5A):c.6003C>T (p.Ala2001=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +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)	Cardiac arrhythmia +11 more	GUncertain significance
Select item 179813	NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 702922	NM_000335.5(SCN5A):c.5997T>C (p.Asp1999=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 928454	NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr)	SCN5A (D1982Y +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 927271	NM_000335.5(SCN5A):c.5995G>C (p.Asp1999His)	SCN5A (D1946H +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 926950	NM_000335.5(SCN5A):c.5984G>A (p.Ser1995Asn)	SCN5A (S1963N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2774431	NM_000335.5(SCN5A):c.5977G>C (p.Asp1993His)	SCN5A (D1940H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 921398	NM_000335.5(SCN5A):c.5972G>T (p.Gly1991Val)	SCN5A (G1959V +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GLikely benign
Select item 628173	NM_000335.5(SCN5A):c.5972G>C (p.Gly1991Ala)	SCN5A (G1991A +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GLikely benign
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 345112	NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)	SCN5A (R1990W +5 more)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +11 more	GUncertain significance
Select item 630571	NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu)	SCN5A (V1989L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GUncertain significance
Select item 1332066	NM_000335.5(SCN5A):c.5962C>T (p.Gln1988Ter)	SCN5A (Q1988* +5 more)	Single nucleotide variant (nonsense)	Cardiac arrhythmia +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)	Cardiac arrhythmia +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 696179	NM_000335.5(SCN5A):c.5952C>T (p.Ser1984=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 1022855	NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile)	SCN5A (T1930I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 48314	NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 463356	NM_000335.5(SCN5A):c.5945C>G (p.Ala1982Gly)	SCN5A (A1982G +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 1171365	NM_000335.5(SCN5A):c.5940T>C (p.Thr1980=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 520462	NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)	SCN5A (V1979F +5 more)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +7 more	GConflicting classifications of pathogenicity
Select item 2774432	NM_000335.5(SCN5A):c.5914T>C (p.Phe1972Leu)	SCN5A (F1940L +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 2774433	NM_000335.5(SCN5A):c.5911T>C (p.Ser1971Pro)	SCN5A (S1971P +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 1171405	NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup)	SCN5A	Duplication (inframe_insertion)	Brugada syndrome 1 +8 more	GUncertain significance
Select item 68018	NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)	SCN5A (I1967M +5 more)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 68016	NM_000335.5(SCN5A):c.5888C>T (p.Ser1963Phe)	SCN5A (S1963F +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 48313	NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)	SCN5A (P1961L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GConflicting classifications of pathogenicity
Select item 532066	NM_000335.5(SCN5A):c.5870G>T (p.Arg1957Leu)	SCN5A (R1957L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 68015	NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)	SCN5A (R1957Q +5 more)	Single nucleotide variant (missense variant)	not provided +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)	Dilated cardiomyopathy 1E +10 more	GConflicting classifications of pathogenicity
Select item 751238	NM_000335.5(SCN5A):c.5868C>G (p.Ser1956=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 1172266	NM_000335.5(SCN5A):c.5856_5859del (p.Ser1952fs)	SCN5A (S1899fs +5 more)	Microsatellite (frameshift variant)	Cardiac arrhythmia	GUncertain significance
Select item 48312	NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys)	SCN5A (E1953K +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 920608	NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)	SCN5A (S1899N +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 68014	NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)	SCN5A (V1950M +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +11 more	GConflicting classifications of pathogenicity
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +13 more	GBenign/Likely benign
Select item 704320	NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 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)	Hypertrophic cardiomyopathy +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)	Dilated cardiomyopathy 1E +10 more	GUncertain significance
Select item 48311	NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +11 more	GBenign/Likely benign
Select item 449098	NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)	SCN5A (R1943Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 provided +4 more	GConflicting classifications of pathogenicity
Select item 1171128	NM_000335.5(SCN5A):c.5814G>T (p.Glu1938Asp)	SCN5A (E1885D +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	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 922984	NM_000335.5(SCN5A):c.5805C>T (p.Leu1935=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 68011	NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)	SCN5A (G1934S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GConflicting classifications of pathogenicity
Select item 201424	NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1172424	NM_000335.5(SCN5A):c.5796C>A (p.Gly1932=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 920501	NM_000335.5(SCN5A):c.5796C>T (p.Gly1932=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
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 263948	NM_000335.5(SCN5A):c.5793G>C (p.Ala1931=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 139067	NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 582721	NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)	SCN5A (A1931V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GConflicting classifications of pathogenicity
Select item 922183	NM_000335.5(SCN5A):c.5790G>A (p.Gln1930=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 923268	NM_000335.5(SCN5A):c.5786A>G (p.Gln1929Arg)	SCN5A (Q1911R +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 179372	NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)	SCN5A (R1928H +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +11 more	GUncertain significance
Select item 75052	NM_000335.5(SCN5A):c.5782C>T (p.Arg1928Cys)	SCN5A (R1928C +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 919577	NM_000335.5(SCN5A):c.5778C>T (p.Leu1926=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 926658	NM_000335.5(SCN5A):c.5772C>T (p.Ser1924=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 920537	NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1332501	NM_000335.5(SCN5A):c.5768C>T (p.Ala1923Val)	SCN5A (A1870V +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance

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