"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136655	NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)	CACNB4	Single nucleotide variant (synonymous variant)	CACNB4-related condition +5 more	GBenign/Likely benign
Select item 136653	NM_000726.5(CACNB4):c.771G>A (p.Thr257=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	CACNB4-related condition +3 more	GBenign/Likely benign
Select item 136652	NM_000726.5(CACNB4):c.655A>G (p.Met219Val)	CACNB4 (M219V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 136651	NM_000726.5(CACNB4):c.599-15G>A	CACNB4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 7608	NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	CACNB4 (C104F +3 more)	Single nucleotide variant (missense variant +1 more)	CACNB4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1174755	NM_000726.5(CACNB4):c.64-225G>A	CACNB4	Single nucleotide variant (intron variant)	CACNB4-related condition	GLikely benign
Select item 193120	NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)	LOC129934925, CACNB4 (S2F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 9 +6 more	GConflicting classifications of pathogenicity

ClinVar