"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522254	NM_201596.3(CACNB2):c.120+366C>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 1284484	NM_201596.3(CACNB2):c.121-25_121-3dup	CACNB2	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284387	NM_201596.3(CACNB2):c.121-17_121-3dup	CACNB2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 522255	NM_201596.3(CACNB2):c.121-9_121-3del	CACNB2	Deletion (intron variant)	Brugada syndrome 4	GLikely benign
Select item 1284603	NM_201596.3(CACNB2):c.121-3_121-2insTTTTGT	CACNB2	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 190713	NM_201596.3(CACNB2):c.209G>A (p.Arg70His)	CACNB2 (R70H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 222521	NM_201596.3(CACNB2):c.334-8C>T	CACNB2	Single nucleotide variant (intron variant)	Ventricular fibrillation +1 more	GConflicting classifications of pathogenicity
Select item 161212	NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)	CACNB2 (T449I +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 136646	NM_201596.3(CACNB2):c.1518C>T (p.Arg506=)	CACNB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 136647	NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)	CACNB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 190730	NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)	CACNB2 (S502L +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 136648	NM_201596.3(CACNB2):c.1785C>T (p.His595=)	CACNB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 191569	NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)	CACNB2 (R552G +9 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign
Select item 215549	NM_201596.3(CACNB2):c.*10G>T	CACNB2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 522256	NM_201596.3(CACNB2):c.*35del	CACNB2	Deletion (3 prime UTR variant)	not provided +1 more	GBenign