"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1101212 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 629666	NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 809446	NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +1 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)	Cardiac arrhythmia +13 more	GBenign/Likely benign
Select item 532163	NM_000335.5(SCN5A):c.3057G>A (p.Val1019=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 67772	NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)	LOC110121269, SCN5A (C1004R)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GConflicting classifications of pathogenicity
Select item 67771	NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)	LOC110121269, SCN5A (A997T)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +9 more	GUncertain significance
Select item 345121	NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +8 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 67767	NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp)	LOC110121269, SCN5A (R975W)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 1176454	NM_000335.5(SCN5A):c.2800T>C (p.Phe934Leu)	LOC110121269, SCN5A (F934L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance