"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976261	NM_000335.5(SCN5A):c.5827_5830del (p.Glu1944fs)	SCN5A (E1891fs +5 more)	Deletion (frameshift variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 67967	NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	SCN5A (G1742R +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 860487	NM_000335.5(SCN5A):c.5062G>A (p.Asp1688Asn)	SCN5A (D1656N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +1 more	GUncertain significance
Select item 201572	NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	SCN5A (F1616del +5 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1E +11 more	GPathogenic/Likely pathogenic
Select item 2692365	NM_000335.5(SCN5A):c.3878C>G (p.Ala1293Gly)	SCN5A (A1240G +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1E	GUncertain significance
Select item 67810	NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)	SCN5A (E1224K +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 2576598	NM_000335.5(SCN5A):c.2704A>T (p.Thr902Ser)	SCN5A (T902S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1	GUncertain significance
Select item 925869	NM_000335.5(SCN5A):c.2548G>A (p.Val850Met)	SCN5A (V850M)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GUncertain significance
Select item 67732	NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)	SCN5A (R814Q)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +6 more	GConflicting classifications of pathogenicity
Select item 67731	NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)	SCN5A (R814W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +4 more	GPathogenic/Likely pathogenic
Select item 628262	NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)	SCN5A (R808C)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 972689	NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu)	SCN5A (R693L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 48292	NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)	SCN5A (P648L)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +11 more	GUncertain significance
Select item 67680	NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp)	SCN5A (R569W)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 48289	NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	SCN5A (H558R)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +13 more	GBenign/Likely benign
Select item 967836	NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)	SCN5A (M520V)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 48280	NM_000335.5(SCN5A):c.1141-3C>A	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia +10 more	GBenign/Likely benign
Select item 68033	NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)	SCN5A (R225Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1E +6 more	GConflicting classifications of pathogenicity
Select item 67778	NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	SCN5A (R104W)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +10 more	GPathogenic/Likely pathogenic