CACNA1C[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683258	NM_000719.7(CACNA1C):c.-360G>A	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 307972	NM_000719.7(CACNA1C):c.-233C>T	CACNA1C	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1230724	NM_000719.7(CACNA1C):c.-224T>C	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1270880	NM_000719.7(CACNA1C):c.-181G>A	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241429	NM_000719.7(CACNA1C):c.-77del	CACNA1C	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 507911	NM_000719.7(CACNA1C):c.-28C>T	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385645	NM_000719.7(CACNA1C):c.-27T>G	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 872566	NM_000719.7(CACNA1C):c.-3T>C	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439645	NM_000719.7(CACNA1C):c.-2C>T	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1314750	NM_000719.7(CACNA1C):c.1A>G (p.Met1Val)	CACNA1C (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 981288	NM_000719.7(CACNA1C):c.1A>C (p.Met1Leu)	CACNA1C (M1L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 190710	NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)	CACNA1C (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2896571	NM_000719.7(CACNA1C):c.3G>T (p.Met1Ile)	CACNA1C (M1I)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1704926	NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile)	CACNA1C (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1756638	NM_000719.7(CACNA1C):c.7_9del (p.Asn3del)	CACNA1C (N3del)	Deletion (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 2996376	NM_000719.7(CACNA1C):c.12G>C (p.Glu4Asp)	CACNA1C (E4D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1439077	NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)	CACNA1C (N5H)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 496070	NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)	CACNA1C (N5S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 190711	NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)	CACNA1C (T6fs)	Deletion (frameshift variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1780365	NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met)	CACNA1C (T6M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780357	NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)	CACNA1C (T6R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2882367	NM_000719.7(CACNA1C):c.18G>A (p.Thr6=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2642572	NM_000719.7(CACNA1C):c.18G>T (p.Thr6=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835762	NM_000719.7(CACNA1C):c.20G>C (p.Arg7Thr)	CACNA1C (R7T)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2800031	NM_000719.7(CACNA1C):c.21G>T (p.Arg7Ser)	CACNA1C (R7S)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 1634324	NM_000719.7(CACNA1C):c.27C>T (p.Tyr9=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1092232	NM_000719.7(CACNA1C):c.30T>C (p.Ile10=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 978276	NM_000719.7(CACNA1C):c.32del (p.Pro11fs)	CACNA1C (P11fs)	Deletion (frameshift variant)	Conduction disorder of the heart	GLikely pathogenic
Select item 2173113	NM_000719.7(CACNA1C):c.33A>G (p.Pro11=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 697680	NM_000719.7(CACNA1C):c.35A>T (p.Glu12Val)	CACNA1C (E12V)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GLikely benign
Select item 1308310	NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys)	CACNA1C (E13K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635676	NM_000719.7(CACNA1C):c.42C>T (p.Asn14=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1677508	NM_000719.7(CACNA1C):c.49+1G>A	CACNA1C	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1743983	NM_000719.7(CACNA1C):c.49+3A>G	CACNA1C	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743984	NM_000719.7(CACNA1C):c.49+5G>A	CACNA1C	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2999217	NM_000719.7(CACNA1C):c.49+6G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 700569	NM_000719.7(CACNA1C):c.49+7C>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2899805	NM_000719.7(CACNA1C):c.49+20C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 683259	NM_000719.7(CACNA1C):c.49+255G>A	CACNA1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 695132	NM_000719.7(CACNA1C):c.50-327C>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GBenign
Select item 695145	NM_000719.7(CACNA1C):c.50-162C>G	CACNA1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 695224	NM_000719.7(CACNA1C):c.50-147C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign/Likely benign
Select item 190619	NM_000719.7(CACNA1C):c.50-18T>C	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign/Likely benign
Select item 2897234	NM_000719.7(CACNA1C):c.50-14C>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1555657	NM_000719.7(CACNA1C):c.50-14C>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1575399	NM_000719.7(CACNA1C):c.50-10T>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2154290	NM_000719.7(CACNA1C):c.50-6C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 195098	NM_000719.7(CACNA1C):c.50-3C>T	CACNA1C	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2827591	NM_000719.7(CACNA1C):c.50-1G>C	CACNA1C	Single nucleotide variant (splice acceptor variant)	Long QT syndrome	GUncertain significance
Select item 1021418	NM_000719.7(CACNA1C):c.50G>C (p.Gly17Ala)	CACNA1C (G17A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 190620	NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp)	CACNA1C (G17D)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 594993	NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe)	CACNA1C (S18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562412	NM_000719.7(CACNA1C):c.54C>T (p.Ser18=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 2630915	NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys)	CACNA1C (Y20C)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1560466	NM_000719.7(CACNA1C):c.60T>C (p.Tyr20=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1474950	NM_000719.7(CACNA1C):c.62G>C (p.Gly21Ala)	CACNA1C (G21A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1754411	NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)	CACNA1C (S22N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 578454	NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)	CACNA1C (S22I)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1540390	NM_000719.7(CACNA1C):c.69A>G (p.Pro23=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1121905	NM_000719.7(CACNA1C):c.69A>C (p.Pro23=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 190675	NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys)	CACNA1C (R24C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 93422	NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)	CACNA1C (R24H)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 381480	NM_000719.7(CACNA1C):c.75C>T (p.Pro25=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 190707	NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)	CACNA1C (A26T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 457001	NM_000719.7(CACNA1C):c.77C>T (p.Ala26Val)	CACNA1C (A26V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1015055	NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)	CACNA1C (A28T)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 948900	NM_000719.7(CACNA1C):c.88A>G (p.Met30Val)	CACNA1C (M30V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 190678	NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp)	CACNA1C (N31D)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1025644	NM_000719.7(CACNA1C):c.92A>G (p.Asn31Ser)	CACNA1C (N31S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2894747	NM_000719.7(CACNA1C):c.95C>T (p.Ala32Val)	CACNA1C (A32V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1995459	NM_000719.7(CACNA1C):c.95C>G (p.Ala32Gly)	CACNA1C (A32G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2971587	NM_000719.7(CACNA1C):c.98A>C (p.Asn33Thr)	CACNA1C (N33T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 190679	NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)	CACNA1C (N33S)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1002403	NM_000719.7(CACNA1C):c.101C>A (p.Ala34Glu)	CACNA1C (A34E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 190680	NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val)	CACNA1C (A34V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 698285	NM_000719.7(CACNA1C):c.102G>A (p.Ala34=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GLikely benign
Select item 1126016	NM_000719.7(CACNA1C):c.105A>G (p.Ala35=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 264470	NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val)	CACNA1C (A36V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1789009	NM_000719.7(CACNA1C):c.108G>T (p.Ala36=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1234256	NM_000719.7(CACNA1C):c.108G>A (p.Ala36=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 93391	NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)	CACNA1C (G37R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 2786321	NM_000719.7(CACNA1C):c.112C>A (p.Leu38Met)	CACNA1C (L38M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 755190	NM_000719.7(CACNA1C):c.114G>A (p.Leu38=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 17635	NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)	CACNA1C (A39V)	Single nucleotide variant (missense variant)	Brugada syndrome 3	GPathogenic
Select item 1588424	NM_000719.7(CACNA1C):c.117C>G (p.Ala39=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2959055	NM_000719.7(CACNA1C):c.118C>A (p.Pro40Thr)	CACNA1C (P40T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2826485	NM_000719.7(CACNA1C):c.118C>T (p.Pro40Ser)	CACNA1C (P40S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2452671	NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys)	CACNA1C (E41K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 657620	NM_000719.7(CACNA1C):c.122A>T (p.Glu41Val)	CACNA1C (E41V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1157099	NM_000719.7(CACNA1C):c.123G>A (p.Glu41=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1691188	NM_000719.7(CACNA1C):c.125A>G (p.His42Arg)	CACNA1C (H42R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2566930	NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu)	CACNA1C (I43L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1133912	NM_000719.7(CACNA1C):c.129C>T (p.Ile43=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 373514	NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)	CACNA1C (P44A)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GUncertain significance
Select item 416864	NM_000719.7(CACNA1C):c.132C>T (p.Pro44=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1080810	NM_000719.7(CACNA1C):c.135C>T (p.Thr45=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 389815	NM_000719.7(CACNA1C):c.135C>A (p.Thr45=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 377601	NM_000719.7(CACNA1C):c.135C>G (p.Thr45=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 1024927	NM_000719.7(CACNA1C):c.142dup (p.Ala48fs)	CACNA1C (A48fs)	Duplication (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 956992	NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu)	CACNA1C (P46L)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance

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