"GeneDx"[submitter] AND "LOC129934925"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381095	NM_000726.5(CACNB4):c.54C>A (p.Pro18=)	CACNB4, LOC129934925	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 204923	NM_000726.5(CACNB4):c.45G>A (p.Pro15=)	CACNB4, LOC129934925	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 204939	NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)	LOC129934925, CACNB4 (P15R)	Single nucleotide variant (missense variant)	Juvenile myoclonic epilepsy +5 more	GConflicting classifications of pathogenicity
Select item 204938	NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)	CACNB4, LOC129934925 (S3F)	Single nucleotide variant (missense variant)	Juvenile myoclonic epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 193120	NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)	CACNB4, LOC129934925 (S2F)	Single nucleotide variant (missense variant)	Episodic ataxia type 5 +5 more	GConflicting classifications of pathogenicity
Select item 136656	NM_000726.5(CACNB4):c.-25G>T	LOC129934925, CACNB4	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 5 +3 more	GBenign

ClinVar