"PreventionGenetics, part of Exact Sciences"[submitter] AND "CACNB4"[g - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637411	NM_000726.5(CACNB4):c.1440T>G (p.His480Gln)	CACNB4 (H262Q +9 more)	Single nucleotide variant (missense variant)	CACNB4-related disorder	GUncertain significance
Select item 136655	NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)	CACNB4	Single nucleotide variant (synonymous variant)	Juvenile myoclonic epilepsy +5 more	GBenign/Likely benign
Select item 446966	NM_000726.5(CACNB4):c.1191G>A (p.Ala397=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	CACNB4-related disorder +2 more	GBenign/Likely benign
Select item 204922	NM_000726.5(CACNB4):c.792T>C (p.Ser264=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +2 more	GBenign
Select item 136653	NM_000726.5(CACNB4):c.771G>A (p.Thr257=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	CACNB4-related disorder +2 more	GBenign
Select item 3053886	NM_000726.5(CACNB4):c.598+7G>C	CACNB4	Single nucleotide variant (intron variant)	CACNB4-related disorder	GLikely benign
Select item 7608	NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	CACNB4 (C104F +3 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 5 +4 more	GConflicting classifications of pathogenicity
Select item 3040559	NM_000726.5(CACNB4):c.148-88166G>C	CACNB4	Single nucleotide variant (intron variant)	CACNB4-related disorder	GLikely benign
Select item 446974	NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)	CACNB4 (S31R +1 more)	Single nucleotide variant (missense variant)	CACNB4-related disorder +4 more	GUncertain significance
Select item 1174755	NM_000726.5(CACNB4):c.64-225G>A	CACNB4	Single nucleotide variant (intron variant)	CACNB4-related disorder	GLikely benign
Select item 446970	NM_000726.5(CACNB4):c.64-238T>G	CACNB4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 381095	NM_000726.5(CACNB4):c.54C>A (p.Pro18=)	LOC129934925, CACNB4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 204939	NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)	LOC129934925, CACNB4 (P15R)	Single nucleotide variant (missense variant)	Episodic ataxia type 5 +6 more	GConflicting classifications of pathogenicity
Select item 193122	NM_000726.5(CACNB4):c.36G>A (p.Ala12=)	CACNB4, LOC129934925	Single nucleotide variant (synonymous variant)	not provided +2 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)	Epilepsy, idiopathic generalized, susceptibility to, 9 +6 more	GConflicting classifications of pathogenicity