C2751898[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 345062	NM_000335.5(SCN5A):c.*2135C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GUncertain significance
Select item 902319	NM_000335.5(SCN5A):c.*2007G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 3 +5 more	GUncertain significance
Select item 345065	NM_000335.5(SCN5A):c.*1932C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 899570	NM_000335.5(SCN5A):c.*1884G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +5 more	GBenign/Likely benign
Select item 899571	NM_000335.5(SCN5A):c.*1843T>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 900711	NM_000335.5(SCN5A):c.*1820C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 902395	NM_000335.5(SCN5A):c.*1802G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 903251	NM_000335.5(SCN5A):c.*1743G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345074	NM_000335.5(SCN5A):c.*1568G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +6 more	GUncertain significance
Select item 899646	NM_000335.5(SCN5A):c.*1555C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 345075	NM_000335.5(SCN5A):c.*1537T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +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 902458	NM_000335.5(SCN5A):c.*1414G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 345079	NM_000335.5(SCN5A):c.*1390A>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 899715	NM_000335.5(SCN5A):c.*1284G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GBenign/Likely benign
Select item 900861	NM_000335.5(SCN5A):c.*1201C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 900862	NM_000335.5(SCN5A):c.*1166G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
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 899776	NM_000335.5(SCN5A):c.*1151G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345082	NM_000335.5(SCN5A):c.*1087G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345083	NM_000335.5(SCN5A):c.*1074C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GUncertain significance
Select item 902600	NM_000335.5(SCN5A):c.*1060G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 903445	NM_000335.5(SCN5A):c.*1058G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345084	NM_000335.5(SCN5A):c.*1048G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345085	NM_000335.5(SCN5A):c.*990T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345087	NM_000335.5(SCN5A):c.*963C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345088	NM_000335.5(SCN5A):c.*962T>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345090	NM_000335.5(SCN5A):c.*920G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 345091	NM_000335.5(SCN5A):c.*889C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 345092	NM_000335.5(SCN5A):c.*753C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345093	NM_000335.5(SCN5A):c.*747G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345095	NM_000335.5(SCN5A):c.*705C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 900166	NM_000335.5(SCN5A):c.*688C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345096	NM_000335.5(SCN5A):c.*677G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 345097	NM_000335.5(SCN5A):c.*663C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 901879	NM_000335.5(SCN5A):c.*662C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 902779	NM_000335.5(SCN5A):c.*659C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
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 900233	NM_000335.5(SCN5A):c.*587C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345100	NM_000335.5(SCN5A):c.*486C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 901941	NM_000335.5(SCN5A):c.*475T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345101	NM_000335.5(SCN5A):c.*382T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +8 more	GUncertain significance
Select item 345102	NM_000335.5(SCN5A):c.*331T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 345104	NM_000335.5(SCN5A):c.*290G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 345105	NM_000335.5(SCN5A):c.*204T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +8 more	GUncertain significance
Select item 345106	NM_000335.5(SCN5A):c.*160G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
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 900347	NM_000335.5(SCN5A):c.*131G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
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 201549	NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)	SCN5A (V2015M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +8 more	GConflicting classifications of pathogenicity
Select item 68025	NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg)	SCN5A (P2005R +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +8 more	GUncertain significance
Select item 68024	NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)	SCN5A (P2005A +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 68022	NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)	SCN5A (F2003V +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +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)	Brugada syndrome 1 +12 more	GConflicting classifications of pathogenicity
Select item 179813	NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)	SCN5A	Single nucleotide variant (synonymous variant)	Ventricular fibrillation, paroxysmal familial, type 1 +12 more	GConflicting classifications of pathogenicity
Select item 345112	NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)	SCN5A (R1990W +5 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +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 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 520462	NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)	SCN5A (V1979F +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +7 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)	not specified +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)	Sick sinus syndrome 1 +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)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
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 579217	NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val)	SCN5A (G1933V +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 68010	NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)	SCN5A (R1918C +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +10 more	GUncertain significance
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 227933	NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 899509	NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu)	SCN5A (M1788L +5 more)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 899510	NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr)	SCN5A (P1776T +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 48307	NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 242203	NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +10 more	GConflicting classifications of pathogenicity
Select item 139066	NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +9 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 67985	NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)	SCN5A (T1778M +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 345114	NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=)	SCN5A	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +9 more	GConflicting classifications of pathogenicity
Select item 902396	NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=)	SCN5A	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 903252	NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn)	SCN5A (D1687N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 516646	NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 201521	NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile)	SCN5A (V1623I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +7 more	GConflicting classifications of pathogenicity
Select item 9374	NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	SCN5A (R1623* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +13 more	GPathogenic
Select item 48304	NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 345115	NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)	SCN5A	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +9 more	GConflicting classifications of pathogenicity
Select item 165135	NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +10 more	GConflicting classifications of pathogenicity
Select item 67924	NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)	SCN5A (F1595I +4 more)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome 1 +13 more	GConflicting classifications of pathogenicity
Select item 345116	NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=)	SCN5A	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 36763	NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 378549	NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +9 more	GConflicting classifications of pathogenicity
Select item 36762	NM_000335.5(SCN5A):c.4434+13C>T	SCN5A	Single nucleotide variant (intron variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 165139	NM_000335.5(SCN5A):c.4297-14T>C	SCN5A	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 899777	NM_000335.5(SCN5A):c.4296+4G>T	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 463336	NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 629145	NM_000335.5(SCN5A):c.4289C>G (p.Ser1430Cys)	SCN5A (S1430C +2 more)	Single nucleotide variant (missense variant +1 more)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 36761	NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)	SCN5A	Single nucleotide variant (synonymous variant)	Ventricular fibrillation, paroxysmal familial, type 1 +10 more	GConflicting classifications of pathogenicity
Select item 518780	NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 201506	NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly)	SCN5A (D1369G +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 899837	NM_000335.5(SCN5A):c.4073A>C (p.Lys1358Thr)	SCN5A (K1305T +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 67857	NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)	SCN5A (V1352M +2 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +7 more	GConflicting classifications of pathogenicity

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