"CSER _CC_NCGL, University of Washington"[submitter] AND "CACNB2"[gene - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226042	NM_201596.3(CACNB2):c.121-2A>T	CACNB2	Single nucleotide variant (splice acceptor variant)	Brugada syndrome +1 more	GUncertain significance
Select item 226043	NM_201596.3(CACNB2):c.121-1G>T	CACNB2	Single nucleotide variant (splice acceptor variant)	Brugada syndrome	GUncertain significance
Select item 161209	NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)	CACNB2 (A127V +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 411702	NM_201596.3(CACNB2):c.544A>G (p.Met182Val)	CACNB2 (M128V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 161210	NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)	CACNB2 (S142F +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 161211	NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)	CACNB2 (S159T +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 190724	NM_201596.3(CACNB2):c.804+665G>A	CACNB2 (R242Q +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +2 more	GUncertain significance
Select item 161214	NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)	CACNB2 (V339I +9 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +2 more	GUncertain significance
Select item 161212	NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)	CACNB2 (T449I +9 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 375853	NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)	CACNB2 (R476C +9 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 161213	NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)	CACNB2 (D537E +9 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity