Related gene-specific medical variations for Gene (Select 783) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065473	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTGT	CACNB2	Microsatellite (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2640341	NM_201596.3(CACNB2):c.622_625dup	CACNB2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 2441633	NM_201596.3(CACNB2):c.804+664C>T	CACNB2 (R214W +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4	GUncertain significance
Select item 972692	NM_201596.3(CACNB2):c.485G>T (p.Arg162Leu)	CACNB2 (R107L +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
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 226200	GRCh37/hg19 10p12.33(chr10:18550958-18592873)	CACNB2	Copy number loss	Abnormal esophagus morphology	GUncertain significance
Select item 226199	GRCh37/hg19 10p12.33(chr10:18550958-18583866)	CACNB2	Copy number loss	Abnormal esophagus morphology	GUncertain significance

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