CACNB4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 330

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	MBD5, MIR4773-1 +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
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 893390	NM_000726.5(CACNB4):c.*6071T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894225	NM_000726.5(CACNB4):c.*5854A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 894226	NM_000726.5(CACNB4):c.*5679G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894625	NM_000726.5(CACNB4):c.*5256G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 894626	NM_000726.5(CACNB4):c.*5235T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 894627	NM_000726.5(CACNB4):c.*5142C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 892602	NM_000726.5(CACNB4):c.*5034G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 892603	NM_000726.5(CACNB4):c.*5006A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 892604	NM_000726.5(CACNB4):c.*4938G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 893416	NM_000726.5(CACNB4):c.*4335G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 893417	NM_000726.5(CACNB4):c.*4330T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 893418	NM_000726.5(CACNB4):c.*4154C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 894255	NM_000726.5(CACNB4):c.*4139A>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GBenign
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 894256	NM_000726.5(CACNB4):c.*4110A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894257	NM_000726.5(CACNB4):c.*3944A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 894258	NM_000726.5(CACNB4):c.*3834G>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 894259	NM_000726.5(CACNB4):c.*3829C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894649	NM_000726.5(CACNB4):c.*3742C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894650	NM_000726.5(CACNB4):c.*3300G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 892643	NM_000726.5(CACNB4):c.*3116A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GBenign
Select item 892644	NM_000726.5(CACNB4):c.*2968C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 893445	NM_000726.5(CACNB4):c.*2683T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GBenign
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 893446	NM_000726.5(CACNB4):c.*2509G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 893447	NM_000726.5(CACNB4):c.*2311T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 893448	NM_000726.5(CACNB4):c.*2170C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 893756	NM_000726.5(CACNB4):c.*2001C>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894672	NM_000726.5(CACNB4):c.*1466T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 894673	NM_000726.5(CACNB4):c.*1441C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 892684	NM_000726.5(CACNB4):c.*1258A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 892685	NM_000726.5(CACNB4):c.*1228C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 892686	NM_000726.5(CACNB4):c.*1188C>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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

<< First< Prev

Page of 4