ClinVar for MedGen (Select 331395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233417	NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser)	CACNA1C (R515S +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +1 more	GLikely pathogenic
Select item 3066281	NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met)	CACNA1C (K263M)	Single nucleotide variant (missense variant)	Timothy syndrome	GLikely pathogenic
Select item 2664800	NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)	CACNA1C (I1026V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +1 more	GLikely pathogenic
Select item 2626971	NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)	CACNA1C, CACNA1C-AS1 (R1951* +13 more)	Single nucleotide variant (nonsense)	Timothy syndrome	GPathogenic
Select item 2584627	NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)	CACNA1C (V2124D +13 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +2 more	GUncertain significance
Select item 2584615	NM_000719.7(CACNA1C):c.477+100598G>A	CACNA1C, CACNA1C-AS4	Single nucleotide variant (intron variant)	Long qt syndrome 8 +2 more	GUncertain significance
Select item 1878644	NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu)	CACNA1C, CACNA1C-AS1	Duplication (non-coding transcript variant +2 more)	Timothy syndrome	GUncertain significance
Select item 1805658	NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)	CACNA1C, CACNA1C-AS1 (H1832R +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome	GUncertain significance
Select item 1709149	NM_000719.7(CACNA1C):c.1390+4A>G	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome	GUncertain significance
Select item 1707563	NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)	CACNA1C (S640F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1701756	NM_000719.7(CACNA1C):c.4141-605G>A	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GUncertain significance
Select item 1699479	NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro)	CACNA1C, CACNA1C-AS1 (L1638P +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome	GUncertain significance
Select item 1685597	NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly)	CACNA1C (V615G +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome	GPathogenic
Select item 1685596	NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn)	CACNA1C (D199N)	Single nucleotide variant (missense variant)	Timothy syndrome	GPathogenic
Select item 1677494	NM_000719.7(CACNA1C):c.4828+1G>A	CACNA1C	Single nucleotide variant (splice donor variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1677378	NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr)	CACNA1C (I179T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1616593	NM_000719.7(CACNA1C):c.4957-15C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome +3 more	GLikely benign
Select item 1578634	NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 1525632	NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)	CACNA1C, CACNA1C-AS1 (A1985V +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 1510157	NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln)	CACNA1C (R1595Q +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 1483568	NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val)	CACNA1C (L1509V +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	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 1432134	NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)	CACNA1C, CACNA1C-AS1 (P1959R +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1408901	NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met)	CACNA1C (T807M +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GUncertain significance
Select item 1355444	NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)	CACNA1C (M1509V +8 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 1342903	NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg)	CACNA1C (W195R)	Single nucleotide variant (missense variant)	Timothy syndrome	GUncertain significance
Select item 1334091	NM_000719.7(CACNA1C):c.5445-496G>A	CACNA1C, CACNA1C-AS1 (R1850K +1 more)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome	GUncertain significance
Select item 1334090	NM_000719.7(CACNA1C):c.2451del (p.Ala818fs)	CACNA1C (A815fs +1 more)	Deletion (frameshift variant)	Timothy syndrome	GLikely pathogenic
Select item 1325626	NM_000719.7(CACNA1C):c.5444+584T>G	CACNA1C, CACNA1C-AS1 (M1810R)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome	GUncertain significance
Select item 1319953	NM_000719.7(CACNA1C):c.5109C>G (p.Phe1703Leu)	CACNA1C, CACNA1C-AS1 (F1692L +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1309258	NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala)	CACNA1C (V1164A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1302284	NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala)	CACNA1C (P458A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1254770	NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr)	CACNA1C (A1190T +2 more)	Single nucleotide variant (missense variant)	Timothy syndrome +3 more	GUncertain significance
Select item 1201015	NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val)	CACNA1C (A876V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1199186	NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr)	CACNA1C (A1151T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1197616	NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg)	CACNA1C (C1018R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1192600	NM_000719.7(CACNA1C):c.4074+33del	CACNA1C	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1164022	NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu)	CACNA1C (V1350L +8 more)	Single nucleotide variant (missense variant)	Timothy syndrome	GPathogenic
Select item 1160375	NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome +4 more	GLikely benign
Select item 1154246	NM_000719.7(CACNA1C):c.285C>T (p.Thr95=)	CACNA1C	Single nucleotide variant (synonymous variant)	Timothy syndrome +4 more	GLikely benign
Select item 1053141	NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)	CACNA1C	Single nucleotide variant (synonymous variant)	Timothy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1045556	NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg)	CACNA1C, CACNA1C-AS1 (S2023R +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1029939	NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1021032	NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe)	CACNA1C (S311F +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 1017880	NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met)	CACNA1C (V1030M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	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 1013997	NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser)	CACNA1C, CACNA1C-AS1 (G1883S +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 1010231	NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met)	CACNA1C (V593M +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GUncertain significance
Select item 1008469	NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg)	CACNA1C (G1044R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1003227	NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)	CACNA1C, CACNA1C-AS1 (G2020S +13 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +4 more	GUncertain significance
Select item 992575	NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)	CACNA1C (F1466S +8 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +2 more	GUncertain significance
Select item 973262	NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)	CACNA1C (V241A)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +1 more	GLikely pathogenic
Select item 970605	NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)	CACNA1C-AS1, CACNA1C (P1962L +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GConflicting classifications of pathogenicity
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
Select item 931926	NM_000719.7(CACNA1C):c.1217+5G>A	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome	GUncertain significance
Select item 931388	NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln)	CACNA1C (R508Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 851772	NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys)	CACNA1C, CACNA1C-AS1 (G2099C +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 847588	NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)	CACNA1C-AS1, CACNA1C (Q1956R +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 843126	NM_000719.7(CACNA1C):c.5784+4G>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Timothy syndrome +3 more	GUncertain significance
Select item 802810	NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr)	CACNA1C (K1430T +8 more)	Single nucleotide variant (missense variant)	Timothy syndrome +1 more	GUncertain significance
Select item 802809	NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter)	CACNA1C (W368* +1 more)	Single nucleotide variant (nonsense)	Timothy syndrome	GLikely pathogenic
Select item 698285	NM_000719.7(CACNA1C):c.102G>A (p.Ala34=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 695153	NM_000719.7(CACNA1C):c.3717+69C>T	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GBenign
Select item 695152	NM_000719.7(CACNA1C):c.3157-90A>G	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GBenign
Select item 695133	NM_000719.7(CACNA1C):c.1391-64del	CACNA1C	Deletion (intron variant)	Timothy syndrome +1 more	GBenign
Select item 692251	NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del)	CACNA1C, CACNA1C-AS1 (E1827del +13 more)	Microsatellite (inframe_deletion)	Timothy syndrome +1 more	GUncertain significance
Select item 671978	NM_000719.7(CACNA1C):c.2793+187A>G	CACNA1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 671812	NM_000719.7(CACNA1C):c.5681-77C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 671810	NM_000719.7(CACNA1C):c.4727-231T>C	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 671808	NM_000719.7(CACNA1C):c.3945+109C>T	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GBenign
Select item 671807	NM_000719.7(CACNA1C):c.3945+96T>C	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GBenign
Select item 671806	NM_000719.7(CACNA1C):c.3945+83T>C	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GBenign
Select item 671805	NM_000719.7(CACNA1C):c.3718-81T>C	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GBenign
Select item 671801	NM_000719.7(CACNA1C):c.2853+265G>C	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 671800	NM_000719.7(CACNA1C):c.1896-54G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 671799	NM_000719.7(CACNA1C):c.1670-52C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 671783	NM_000719.7(CACNA1C):c.1114-487A>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 670958	NM_000719.7(CACNA1C):c.3946-98G>A	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +1 more	GBenign
Select item 670940	NM_000719.7(CACNA1C):c.4074+36G>A	CACNA1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670934	NM_000719.7(CACNA1C):c.4399-79C>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 660329	NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)	CACNA1C, CACNA1C-AS1 (E1856A +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 646829	NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)	CACNA1C (E477K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 640570	NM_000719.7(CACNA1C):c.484G>A (p.Val162Met)	CACNA1C (V162M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 638926	NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)	CACNA1C, CACNA1C-AS1 (I1911S +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 637980	NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)	CACNA1C (A757P +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +1 more	GUncertain significance
Select item 637979	NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn)	CACNA1C (T471N +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome	GUncertain significance
Select item 580490	NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del)	CACNA1C (E802del +1 more)	Microsatellite (inframe_deletion)	Brugada syndrome 3 +4 more	GConflicting classifications of pathogenicity
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 577869	NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)	CACNA1C, CACNA1C-AS1 (S1742L +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 575699	NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)	CACNA1C, CACNA1C-AS1 (G2001S +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 574016	NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg)	CACNA1C (K1054R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 572803	NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)	CACNA1C (T942A +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 570822	NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)	CACNA1C (N829S +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 560694	NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)	CACNA1C (N639K +1 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 526999	NM_000719.7(CACNA1C):c.3717+4A>G	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +4 more	GUncertain significance
Select item 526989	NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)	CACNA1C-AS1, CACNA1C (A1717V +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 526961	NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)	CACNA1C-AS1, CACNA1C (R1943Q +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 526952	NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)	CACNA1C, CACNA1C-AS1 (E1792G +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 526942	NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile)	CACNA1C, CACNA1C-AS1 (T1800I +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +1 more	GUncertain significance
Select item 526905	NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)	CACNA1C, CACNA1C-AS1 (G1700S +10 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity

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