"GeneDx"[submitter] AND "CACNB4"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194343	NM_000726.5(CACNB4):c.*4T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +2 more	GBenign/Likely benign
Select item 204942	NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln)	CACNB4 (R517Q +9 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 204936	NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter)	CACNB4 (R517* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 204935	NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)	CACNB4 (R452K +9 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 204941	NM_000726.5(CACNB4):c.1348A>G (p.Ile450Val)	CACNB4 (I450V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204934	NM_000726.5(CACNB4):c.1343C>G (p.Ser448Cys)	CACNB4 (S448C +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128562	NM_000726.5(CACNB4):c.1303-3T>C	CACNB4	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 204932	NM_000726.5(CACNB4):c.1280C>A (p.Pro427His)	CACNB4 (P427H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128561	NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +3 more	GBenign
Select item 136654	NM_000726.5(CACNB4):c.1116+18T>C	CACNB4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 377622	NM_000726.5(CACNB4):c.1033T>C (p.Leu345=)	CACNB4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 204931	NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)	CACNB4 (R344Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 381948	NM_000726.5(CACNB4):c.1026A>G (p.Leu342=)	CACNB4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 382563	NM_000726.5(CACNB4):c.1020+16C>G	CACNB4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1318530	NM_000726.5(CACNB4):c.937G>A (p.Ala313Thr)	CACNB4 (A127T +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204929	NM_000726.5(CACNB4):c.839T>C (p.Ile280Thr)	CACNB4 (I280T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 204922	NM_000726.5(CACNB4):c.792T>C (p.Ser264=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	CACNB4-related condition +2 more	GBenign
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 128563	NM_000726.5(CACNB4):c.762T>A (p.Ile254=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +4 more	GBenign
Select item 204928	NM_000726.5(CACNB4):c.656T>C (p.Met219Thr)	CACNB4 (M219T +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 382196	NM_000726.5(CACNB4):c.618+20T>C	CACNB4	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 377621	NM_000726.5(CACNB4):c.599-16C>T	CACNB4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 373821	NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del)	CACNB4 (S183del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 204927	NM_000726.5(CACNB4):c.517G>A (p.Gly173Arg)	CACNB4 (G173R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 204926	NM_000726.5(CACNB4):c.371A>G (p.Asp124Gly)	CACNB4 (D124G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 136650	NM_000726.5(CACNB4):c.324C>T (p.Asp108=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 382202	NM_000726.5(CACNB4):c.315C>T (p.Gly105=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 204925	NM_000726.5(CACNB4):c.313G>A (p.Gly105Ser)	CACNB4 (G105S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 204921	NM_000726.5(CACNB4):c.268-16A>G	CACNB4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1213205	NM_000726.5(CACNB4):c.268-36C>T	CACNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418105	NM_000726.5(CACNB4):c.267+12del	CACNB4	Deletion (intron variant)	not specified	GLikely benign
Select item 377620	NM_000726.5(CACNB4):c.222A>T (p.Arg74=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 420279	NM_000726.5(CACNB4):c.209G>A (p.Arg70Gln)	CACNB4 (R70Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 204924	NM_000726.5(CACNB4):c.208C>T (p.Arg70Trp)	CACNB4 (R70W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1226719	NM_000726.5(CACNB4):c.147+13G>A	CACNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285831	NM_000726.5(CACNB4):c.64-58C>G	CACNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381095	NM_000726.5(CACNB4):c.54C>A (p.Pro18=)	CACNB4, LOC129934925	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 204923	NM_000726.5(CACNB4):c.45G>A (p.Pro15=)	CACNB4, LOC129934925	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GBenign/Likely benign
Select item 204939	NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)	CACNB4, LOC129934925 (P15R)	Single nucleotide variant (missense variant)	CACNB4-related condition +6 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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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
Select item 136656	NM_000726.5(CACNB4):c.-25G>T	CACNB4, LOC129934925	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign

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Items: 46