CACNA1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 58206	GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3	ADIPOR2, CACNA1C +49 more	Copy number gain	See cases	GUncertain significance
Select item 146064	GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3	ADIPOR2, CACNA1C +22 more	Copy number gain	See cases	GUncertain significance
Select item 2570815	NM_152640.5(DCP1B):c.294T>G (p.Pro98=)	CACNA1C, DCP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080573	NM_152640.5(DCP1B):c.212G>A (p.Gly71Glu)	CACNA1C, DCP1B (G71E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283727	NM_152640.5(DCP1B):c.80A>G (p.Tyr27Cys)	CACNA1C, DCP1B (Y27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080575	NM_152640.5(DCP1B):c.7G>C (p.Ala3Pro)	CACNA1C, DCP1B (A3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 456851	NC_000012.11:g.(?_2162709)_(2666163_?)dup	LOC126861417, LOC126861418 +6 more	Duplication	Long QT syndrome	GUncertain significance
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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 496070	NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)	CACNA1C (N5S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 190711	NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)	CACNA1C (T6fs)	Deletion (frameshift variant)	Cardiovascular phenotype +6 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)	Long QT syndrome	GBenign
Select item 695224	NM_000719.7(CACNA1C):c.50-147C>T	CACNA1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 190619	NM_000719.7(CACNA1C):c.50-18T>C	CACNA1C	Single nucleotide variant (intron variant)	not specified +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)	Cardiovascular phenotype +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)	not specified +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)	Cardiovascular phenotype +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)	Long QT syndrome +1 more	GUncertain significance
Select item 578454	NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)	CACNA1C (S22I)	Single nucleotide variant (missense variant)	Timothy 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)	Long QT syndrome +2 more	GUncertain significance
Select item 93422	NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)	CACNA1C (R24H)	Single nucleotide variant (missense variant)	Timothy 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)	CACNA1C-related disorder +3 more	GLikely benign
Select item 190707	NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)	CACNA1C (A26T)	Single nucleotide variant (missense variant)	Long QT syndrome +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)	Cardiovascular phenotype +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)	not provided +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

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