C0270853[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331547	NM_000726.5(CACNB4):c.*6183A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331548	NM_000726.5(CACNB4):c.*6140G>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331549	NM_000726.5(CACNB4):c.*5995dup	CACNB4	Duplication (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331550	NM_000726.5(CACNB4):c.*5977G>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331551	NM_000726.5(CACNB4):c.*5863T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331552	NM_000726.5(CACNB4):c.*5855A>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331553	NM_000726.5(CACNB4):c.*5622C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331554	NM_000726.5(CACNB4):c.*5562A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331555	NM_000726.5(CACNB4):c.*5487T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331556	NM_000726.5(CACNB4):c.*5433A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331557	NM_000726.5(CACNB4):c.*5418T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331558	NM_000726.5(CACNB4):c.*5385C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331559	NM_000726.5(CACNB4):c.*5372T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331560	NM_000726.5(CACNB4):c.*5122C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331561	NM_000726.5(CACNB4):c.*5029T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331562	NM_000726.5(CACNB4):c.*5022A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331563	NM_000726.5(CACNB4):c.*4976T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331564	NM_000726.5(CACNB4):c.*4969G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331565	NM_000726.5(CACNB4):c.*4919G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331566	NM_000726.5(CACNB4):c.*4845T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331567	NM_000726.5(CACNB4):c.*4773A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331568	NM_000726.5(CACNB4):c.*4771G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331569	NM_000726.5(CACNB4):c.*4570T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331570	NM_000726.5(CACNB4):c.*4569A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331571	NM_000726.5(CACNB4):c.*4145T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331572	NM_000726.5(CACNB4):c.*4131A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331573	NM_000726.5(CACNB4):c.*4081G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331574	NM_000726.5(CACNB4):c.*3804G>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331575	NM_000726.5(CACNB4):c.*3688G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331576	NM_000726.5(CACNB4):c.*3668T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331577	NM_000726.5(CACNB4):c.*3475A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331578	NM_000726.5(CACNB4):c.*3387C>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331579	NM_000726.5(CACNB4):c.*3157T>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331580	NM_000726.5(CACNB4):c.*2924T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331581	NM_000726.5(CACNB4):c.*2885T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331582	NM_000726.5(CACNB4):c.*2837A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331583	NM_000726.5(CACNB4):c.*2778A>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GBenign/Likely benign
Select item 331584	NM_000726.5(CACNB4):c.*2729G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331585	NM_000726.5(CACNB4):c.*2695G>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331586	NM_000726.5(CACNB4):c.*2542G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331587	NM_000726.5(CACNB4):c.*2391T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331588	NM_000726.5(CACNB4):c.*2210A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331590	NM_000726.5(CACNB4):c.*2188T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331589	NM_000726.5(CACNB4):c.*2188del	CACNB4	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 331591	NM_000726.5(CACNB4):c.*2163G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331592	NM_000726.5(CACNB4):c.*1952C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331593	NM_000726.5(CACNB4):c.*1942T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign/Likely benign
Select item 331594	NM_000726.5(CACNB4):c.*1937T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331595	NM_000726.5(CACNB4):c.*1931T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331596	NM_000726.5(CACNB4):c.1910_1911del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331597	NM_000726.5(CACNB4):c.*1909C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331598	NM_000726.5(CACNB4):c.*1826A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331599	NM_000726.5(CACNB4):c.*1814G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 331600	NM_000726.5(CACNB4):c.*1811C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331601	NM_000726.5(CACNB4):c.*1785G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance
Select item 331602	NM_000726.5(CACNB4):c.*1656T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331603	NM_000726.5(CACNB4):c.*1635T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331604	NM_000726.5(CACNB4):c.*1520del	CACNB4	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331605	NM_000726.5(CACNB4):c.*1501dup	CACNB4	Duplication (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331606	NM_000726.5(CACNB4):c.*1501del	CACNB4	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331607	NM_000726.5(CACNB4):c.*1459T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331608	NM_000726.5(CACNB4):c.*1284T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331609	NM_000726.5(CACNB4):c.*1186G>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331610	NM_000726.5(CACNB4):c.*1185T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331611	NM_000726.5(CACNB4):c.*1110C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 331612	NM_000726.5(CACNB4):c.*1093T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331613	NM_000726.5(CACNB4):c.*1009C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331614	NM_000726.5(CACNB4):c.*890G>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331615	NM_000726.5(CACNB4):c.*865G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331616	NM_000726.5(CACNB4):c.*795T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331617	NM_000726.5(CACNB4):c.*787del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331618	NM_000726.5(CACNB4):c.*737C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331620	NM_000726.5(CACNB4):c.*624A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331619	NM_000726.5(CACNB4):c.*624del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331621	NM_000726.5(CACNB4):c.*592T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331622	NM_000726.5(CACNB4):c.*528A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331623	NM_000726.5(CACNB4):c.*454dup	CACNB4	Duplication (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331624	NM_000726.5(CACNB4):c.*454del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331626	NM_000726.5(CACNB4):c.*443A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331625	NM_000726.5(CACNB4):c.442_443del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331627	NM_000726.5(CACNB4):c.*442G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331628	NM_000726.5(CACNB4):c.*151dup	CACNB4	Duplication (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331629	NM_000726.5(CACNB4):c.*151del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
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 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 128562	NM_000726.5(CACNB4):c.1303-3T>C	CACNB4	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 331630	NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +1 more	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 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 331631	NM_000726.5(CACNB4):c.642T>C (p.Asp214=)	CACNB4 (C190R +2 more)	Single nucleotide variant (synonymous variant +2 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
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 331632	NM_000726.5(CACNB4):c.521+9C>T	CACNB4	Single nucleotide variant (intron variant)	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 331633	NM_000726.5(CACNB4):c.337G>T (p.Val113Phe)	CACNB4 (V113F +3 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +2 more	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)	Episodic ataxia type 5 +4 more	GConflicting classifications of pathogenicity
Select item 331634	NM_000726.5(CACNB4):c.187G>C (p.Asp63His)	CACNB4 (D63H +3 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331635	NM_000726.5(CACNB4):c.177G>A (p.Pro59=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331636	NM_000726.5(CACNB4):c.64-4C>T	CACNB4	Single nucleotide variant (intron variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
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)	not provided +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

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