C4551804[trait identifier] AND "KardioGenetik, Herz- und Diabeteszentr - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 67925	NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met)	SCN5A (V1596M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 1327132	NM_000335.5(SCN5A):c.4296+1del	SCN5A	Deletion (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 67712	NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	SCN5A (Q692K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +11 more	GConflicting classifications of pathogenicity

Format

Sort by

Choose Destination

ClinVar