ClinVar for MedGen (Select 356142) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688709	NM_000726.5(CACNB4):c.164A>G (p.Tyr55Cys)	CACNB4 (Y21C +3 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 5	GUncertain significance
Select item 894705	NM_000726.5(CACNB4):c.1517G>A (p.Arg506Gln)	CACNB4 (R320Q +9 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 5	GUncertain significance
Select item 894704	NM_000726.5(CACNB4):c.1535A>G (p.Tyr512Cys)	CACNB4 (Y478C +9 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 5	GUncertain significance
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 894672	NM_000726.5(CACNB4):c.*1466T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 894649	NM_000726.5(CACNB4):c.*3742C>T	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 894626	NM_000726.5(CACNB4):c.*5235T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894259	NM_000726.5(CACNB4):c.*3829C>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 894257	NM_000726.5(CACNB4):c.*3944A>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 894255	NM_000726.5(CACNB4):c.*4139A>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GBenign
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 894225	NM_000726.5(CACNB4):c.*5854A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 893786	NM_000726.5(CACNB4):c.*365C>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 893785	NM_000726.5(CACNB4):c.*424A>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GBenign
Select item 893784	NM_000726.5(CACNB4):c.*544T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 893486	NM_000726.5(CACNB4):c.*908C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 893485	NM_000726.5(CACNB4):c.*915T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 893447	NM_000726.5(CACNB4):c.*2311T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 893445	NM_000726.5(CACNB4):c.*2683T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GBenign
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 893417	NM_000726.5(CACNB4):c.*4330T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	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 893390	NM_000726.5(CACNB4):c.*6071T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 892718	NM_000726.5(CACNB4):c.399C>T (p.Asn133=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Episodic ataxia type 5	GUncertain significance
Select item 892717	NM_000726.5(CACNB4):c.529A>G (p.Ser177Gly)	CACNB4 (S159G +3 more)	Single nucleotide variant (missense variant +1 more)	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 892685	NM_000726.5(CACNB4):c.*1228C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 892644	NM_000726.5(CACNB4):c.*2968C>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 892604	NM_000726.5(CACNB4):c.*4938G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
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 892602	NM_000726.5(CACNB4):c.*5034G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5	GUncertain significance
Select item 842227	NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)	CACNB4, LOC129934925 (G14R)	Single nucleotide variant (missense variant)	Episodic ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 784901	NM_000726.5(CACNB4):c.156G>A (p.Ala52=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 567325	NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln)	CACNB4 (R437Q +9 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 446974	NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)	CACNB4 (S31R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 446971	NM_000726.5(CACNB4):c.34G>T (p.Ala12Ser)	CACNB4, LOC129934925 (A12S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 446969	NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp)	CACNB4 (E490D +9 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 9 +2 more	GUncertain significance
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 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 331633	NM_000726.5(CACNB4):c.337G>T (p.Val113Phe)	CACNB4 (V113F +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 9 +2 more	GUncertain significance
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 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 331627	NM_000726.5(CACNB4):c.*442G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 331618	NM_000726.5(CACNB4):c.*737C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +2 more	GConflicting classifications of pathogenicity
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 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 331614	NM_000726.5(CACNB4):c.*890G>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign
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 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 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 331610	NM_000726.5(CACNB4):c.*1185T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign
Select item 331609	NM_000726.5(CACNB4):c.*1186G>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign
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 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 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 331602	NM_000726.5(CACNB4):c.*1656T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 331593	NM_000726.5(CACNB4):c.*1942T>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +2 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 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 331590	NM_000726.5(CACNB4):c.*2188T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +2 more	GConflicting classifications of pathogenicity
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 331587	NM_000726.5(CACNB4):c.*2391T>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 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 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 331584	NM_000726.5(CACNB4):c.*2729G>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	not provided +2 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 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 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 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 331579	NM_000726.5(CACNB4):c.*3157T>A	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
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 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 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 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 331574	NM_000726.5(CACNB4):c.*3804G>C	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +2 more	GBenign
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 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 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 331570	NM_000726.5(CACNB4):c.*4569A>G	CACNB4	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 5 +1 more	GUncertain significance

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