"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC110121 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345119	NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Congenital long QT syndrome +10 more	GConflicting classifications of pathogenicity
Select item 1002391	NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser)	LOC110121269, SCN5A (A1124S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 48300	NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +12 more	GConflicting classifications of pathogenicity
Select item 48298	NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)	LOC110121269, SCN5A (P1089L +1 more)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome 1 +13 more	GBenign/Likely benign
Select item 48297	NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +10 more	GBenign/Likely benign
Select item 9400	NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	LOC110121269, SCN5A (E1053K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 565598	NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)	LOC110121269, SCN5A (A1050T)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 520458	NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)	LOC110121269, SCN5A (R1027Q)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 201486	NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)	LOC110121269, SCN5A (R988W)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 67769	NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)	LOC110121269, SCN5A (C982R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +12 more	GConflicting classifications of pathogenicity
Select item 201483	NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)	LOC110121269, SCN5A (R975Q)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
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 48296	NM_000335.5(SCN5A):c.2788-6C>T	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	Progressive familial heart block, type 1A +9 more	GBenign/Likely benign