"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191429	NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro)	CACNB2 (L35P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2920796	NM_201596.3(CACNB2):c.120+379A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GBenign
Select item 161210	NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)	CACNB2 (S142F +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 1064016	NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr)	CACNB2 (I170T +4 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4	GUncertain significance
Select item 191568	NM_201596.3(CACNB2):c.804+653G>A	CACNB2 (G210D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1022730	NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala)	CACNB2 (D183A +9 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 198635	NM_201596.3(CACNB2):c.873G>A (p.Leu291=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 618001	NM_201596.3(CACNB2):c.928C>G (p.His310Asp)	CACNB2 (H256D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242263	NM_201596.3(CACNB2):c.993G>A (p.Ser331=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +2 more	GBenign
Select item 299560	NM_201596.3(CACNB2):c.1206+6T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4 +1 more	GBenign
Select item 418963	NM_201596.3(CACNB2):c.1488+13_1488+33dup	CACNB2	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 242261	NM_201596.3(CACNB2):c.1521C>T (p.Ser507=)	CACNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 136647	NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 190729	NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)	CACNB2 (R476H +9 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 190730	NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)	CACNB2 (S502L +9 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +3 more	GBenign/Likely benign
Select item 190717	NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)	CACNB2 (V513I +9 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 299566	NM_201596.3(CACNB2):c.1794T>C (p.Ser598=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +2 more	GBenign
Select item 191569	NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)	CACNB2 (R552G +9 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign