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Items: 1 to 100 of 122

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:2692065
GRCh38:
Chr12:2582899
CACNA1CM724I, M727IBrugada syndrome 3, Long qt syndrome 8Uncertain significance
(Jan 1, 2023)		criteria provided, single submitter
2.
GRCh38:
Chr12:2685653-2741045
CACNA1C, CACNA1C-AS1, LINC02371Long qt syndrome 8, Brugada syndrome 3Uncertain significance
(Dec 1, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr12:2694611
GRCh38:
Chr12:2585445
CACNA1CK800N, K803NBrugada syndrome 3Uncertain significance
(Oct 25, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr12:2763708
GRCh38:
Chr12:2654542
CACNA1CBrugada syndrome 3, Long qt syndrome 8, Timothy syndrome
Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr12:2783809
GRCh38:
Chr12:2674643
CACNA1Cnot provided, Cardiovascular phenotype, Brugada syndrome 3,
Long qt syndrome 8, Timothy syndrome		Uncertain significance
(Mar 31, 2023)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:2558200
GRCh38:
Chr12:2449034
CACNA1CI179Tnot provided, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome		Uncertain significance
(Aug 9, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:2786884
GRCh38:
Chr12:2677718
CACNA1C, CACNA1C-AS1Long qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome		Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr12:2800230
GRCh38:
Chr12:2691064
CACNA1C, CACNA1C-AS1Long QT syndrome, Timothy syndrome, Brugada syndrome 3,
Long qt syndrome 8		Likely benign
(Aug 25, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:2797815
GRCh38:
Chr12:2688649
CACNA1C, CACNA1C-AS1A1985V, A2015V, A2037V, A2044V, A1993V, A1996V, A2002V, A2004V, A2024V, A2031V, A2056V, A2013V, A2016V, A2079VLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome		Uncertain significance
(Sep 3, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:2783764
GRCh38:
Chr12:2674598
CACNA1CR1595Q, R1643Q, R1584Q, R1601Q, R1612Q, R1615Q, R1603Q, R1614Q, R1636Q, R1592Q, R1623QLong QT syndrome, Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, Long qt syndrome 8,
Brugada syndrome 3, Timothy syndrome		Uncertain significance
(Aug 14, 2023)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:2775883
GRCh38:
Chr12:2666717
CACNA1CL1509V, L1507V, L1537V, L1568V, L1517V, L1520V, L1540V, L1542V, L1548VTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Long QT syndrome		Uncertain significance
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:2162741
GRCh38:
Chr12:2053575
CACNA1CN5HLong QT syndrome, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, Cardiovascular phenotype		Uncertain significance
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:2797680
GRCh38:
Chr12:2688514
CACNA1C, CACNA1C-AS1P1959R, P1970R, P1971R, P1979R, P1999R, P2034R, P1940R, P1951R, P1957R, P2011R, P1992R, P1948R, P1968R, P1986RBrugada syndrome 3, Timothy syndrome, Long qt syndrome 8,
Long QT syndrome		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:2694631
GRCh38:
Chr12:2585465
CACNA1CT807M, T810MCardiovascular phenotype, Timothy syndrome, Brugada syndrome 3,
Long qt syndrome 8, Long QT syndrome		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr12:2774139
GRCh38:
Chr12:2664973
CACNA1CM1509V, M1448V, M1450V, M1481V, M1458V, M1461V, M1483V, M1489V, M1478VCardiovascular phenotype, Brugada syndrome 3, Timothy syndrome,
Long qt syndrome 8, Long QT syndrome		Uncertain significance
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:2622141
GRCh38:
Chr12:2512975
CACNA1CP458A, P461ABrugada syndrome 3, Long qt syndrome 8, Timothy syndrome,
not provided		Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:2711009
GRCh38:
Chr12:2601843
CACNA1CBrugada syndrome 3, not providedUncertain significance
(Dec 17, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr12:2719725
GRCh38:
Chr12:2610559
CACNA1CA1190T, A1193T, A1213TBrugada syndrome 3, Long qt syndrome 8, Timothy syndrome,
not provided		Uncertain significance
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr12:2702484
GRCh38:
Chr12:2593318
CACNA1CA876V, A879Vnot provided, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3		Uncertain significance
(Nov 14, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:2786288
GRCh38:
Chr12:2677122
CACNA1C, CACNA1C-AS1Long qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Cardiovascular phenotype, Long QT syndrome		Likely benign
(Apr 28, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr12:2224625
GRCh38:
Chr12:2115459
CACNA1CLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Cardiovascular phenotype, Long QT syndrome		Likely benign
(May 21, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr12:2602465
GRCh38:
Chr12:2493299
CACNA1CBrugada syndrome 3, Timothy syndrome, Long qt syndrome 8,
Long QT syndrome		Conflicting interpretations of pathogenicity
(Jul 12, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr12:2797846
GRCh38:
Chr12:2688680
CACNA1C, CACNA1C-AS1S2023R, S2041R, S2003R, S2025R, S2026R, S2047R, S2054R, S2006R, S2034R, S2066R, S2089R, S1995R, S2012R, S2014RBrugada syndrome 3, Timothy syndrome, Long qt syndrome 8,
Long QT syndrome		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr12:2566809
GRCh38:
Chr12:2457643
CACNA1CD232HCACNA1C-Related Disorder, Brugada syndrome 3Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr12:2602380
GRCh38:
Chr12:2493214
CACNA1CS311F, S314FLong QT syndrome, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3		Uncertain significance
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr12:2714893
GRCh38:
Chr12:2605727
CACNA1CV1030M, V1033M, V1053MLong QT syndrome, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3		Uncertain significance
(Jul 17, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:2224422
GRCh38:
Chr12:2115256
CACNA1CA28TLong QT syndrome, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3, Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr12:2795008
GRCh38:
Chr12:2685842
CACNA1C, CACNA1C-AS1G1883S, G1891S, G1894S, G1900S, G1902S, G1911S, G1913S, G1914S, G1922S, G1929S, G1935S, G1942S, G1954S, G1977STimothy syndrome, Long qt syndrome 8, Brugada syndrome 3,
Long QT syndrome		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:2676851
GRCh38:
Chr12:2567685
CACNA1CV593M, V596MTimothy syndrome, Long qt syndrome 8, Brugada syndrome 3,
Cardiovascular phenotype, Long QT syndrome		Uncertain significance
(Dec 11, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:2797919
GRCh38:
Chr12:2688753
CACNA1C, CACNA1C-AS1G2020S, G2028S, G2031S, G2037S, G2039S, G2048S, G2050S, G2051S, G2059S, G2066S, G2072S, G2079S, G2091S, G2114STimothy syndrome, Long qt syndrome 8, Brugada syndrome 3,
Cardiovascular phenotype, Long QT syndrome		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:2774784
GRCh38:
Chr12:2665618
CACNA1CF1466S, F1468S, F1476S, F1479S, F1496S, F1499S, F1501S, F1507S, F1527STimothy syndrome, Brugada syndrome 3, Long qt syndrome 8
Uncertain significance
(Dec 18, 2020)		criteria provided, single submitter
32.
GRCh37:
Chr12:2566837
GRCh38:
Chr12:2457671
CACNA1CV241ATimothy syndrome, Brugada syndrome 3Likely pathogenic
(Mar 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr12:2797722
GRCh38:
Chr12:2688556
CACNA1C, CACNA1C-AS1P1962L, P2025L, P1954L, P1971L, P1982L, P1993L, P2048L, P1973L, P1984L, P2000L, P2006L, P2013L, P1965L, P1985LLong QT syndrome, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:2224540
GRCh38:
Chr12:2115374
CACNA1CS67NBrugada syndrome 3, Long QT syndromeUncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr12:2797728
GRCh38:
Chr12:2688562
CACNA1C, CACNA1C-AS1Q1956R, Q1964R, Q2050R, Q1967R, Q1995R, Q2002R, Q1973R, Q1975R, Q1984R, Q2027R, Q1986R, Q1987R, Q2008R, Q2015RTimothy syndrome, Long qt syndrome 8, Brugada syndrome 3,
Long QT syndrome		Uncertain significance
(Jul 31, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:2795439
GRCh38:
Chr12:2686273
CACNA1C, CACNA1C-AS1Timothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Long QT syndrome		Uncertain significance
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:2224442
GRCh38:
Chr12:2115276
CACNA1CTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, Long QT syndrome		Likely benign
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr12:2791820
GRCh38:
Chr12:2682654
CACNA1C-AS1, CACNA1CE1856A, E1870A, E1898A, E1910A, E1850A, E1858A, E1885A, E1839A, E1867A, E1878A, E1847A, E1869A, E1891A, E1933ALong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
not provided, Long QT syndrome, Timothy syndrome
Uncertain significance
(Sep 4, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:2659147
GRCh38:
Chr12:2549981
CACNA1CE477K, E474KLong QT syndrome, Long qt syndrome 8, Timothy syndrome,
Brugada syndrome 3		Uncertain significance
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:2558148
GRCh38:
Chr12:2448982
CACNA1CV162MLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome		Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:2795392
GRCh38:
Chr12:2686226
CACNA1C, CACNA1C-AS1I1911S, I1920S, I1962S, I1903S, I1914S, I1922S, I1949S, I1931S, I1933S, I1934S, I1942S, I1955S, I1974S, I1997SLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome		Uncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:2694601-2694603
GRCh38:
Chr12:2585435-2585437
CACNA1CE802del, E799delTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, Long QT syndrome		Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:2224405
GRCh38:
Chr12:2115239
CACNA1CS22ITimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, Long QT syndrome		Conflicting interpretations of pathogenicity
(Jul 13, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr12:2797829
GRCh38:
Chr12:2688663
CACNA1C, CACNA1C-AS1G2001S, G2036S, G2049S, G2061S, G2084S, G2007S, G2018S, G2020S, G1998S, G2009S, G2021S, G2029S, G2042S, G1990SCardiovascular phenotype, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome		Conflicting interpretations of pathogenicity
(May 30, 2023)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr12:2715781
GRCh38:
Chr12:2606615
CACNA1CK1054R, K1074R, K1051RTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Long QT syndrome		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:2706426
GRCh38:
Chr12:2597260
CACNA1CT942A, T939ALong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome, Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Apr 13, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr12:2695026
GRCh38:
Chr12:2585860
CACNA1CN829S, N826SLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome, Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr12:2719869
GRCh38:
Chr12:2610703
CACNA1CLong qt syndrome 8, Brugada syndrome 3, Timothy syndrome,
Long QT syndrome, Cardiovascular phenotype		Uncertain significance
(Jan 6, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:2788668
GRCh38:
Chr12:2679502
CACNA1C, CACNA1C-AS1A1717V, A1765V, A1714V, A1736V, A1725V, A1734V, A1706V, A1737V, A1745V, A1723V, A1758VLong QT syndrome, Long qt syndrome 8, Brugada syndrome 3,
Timothy syndrome, Long qt syndrome 8, Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures,
Brugada syndrome 3, Timothy syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jun 29, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr12:2795335
GRCh38:
Chr12:2686169
CACNA1C, CACNA1C-AS1R1943Q, R1895Q, R1930Q, R1923Q, R1978Q, R1884Q, R1892Q, R1901Q, R1903Q, R1914Q, R1912Q, R1915Q, R1936Q, R1955QLong QT syndrome, Long qt syndrome 8, Brugada syndrome 3,
Timothy syndrome, Cardiovascular phenotype		Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:2788893
GRCh38:
Chr12:2679727
CACNA1C, CACNA1C-AS1E1792G, E1840G, E1781G, E1809G, E1811G, E1798G, E1812G, E1833G, E1789G, E1800G, E1820GLong qt syndrome 8, Brugada syndrome 3, Timothy syndrome,
Cardiovascular phenotype, Long QT syndrome		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr12:2788616
GRCh38:
Chr12:2679450
CACNA1C, CACNA1C-AS1G1700S, G1748S, G1697S, G1717S, G1689S, G1708S, G1728S, G1706S, G1719S, G1741S, G1720Snot provided, Long QT syndrome, Cardiovascular phenotype,
Brugada syndrome 3, Timothy syndrome, not specified
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr12:2676818
GRCh38:
Chr12:2567652
CACNA1CV585M, V582Mnot provided, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr12:2711016
GRCh38:
Chr12:2601850
CACNA1CCardiovascular phenotype, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3, Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, not provided,
Long QT syndrome		Conflicting interpretations of pathogenicity
(Jul 11, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr12:2595410
GRCh38:
Chr12:2486244
CACNA1CN300DCardiovascular phenotype, Long qt syndrome 8, Brugada syndrome 3,
Timothy syndrome, Long QT syndrome		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr12:2800282
GRCh38:
Chr12:2691116
CACNA1C, CACNA1C-AS1E2112Q, E2147Q, E2160Q, E2109Q, E2129Q, E2120Q, E2140Q, E2172Q, E2195Q, E2118Q, E2132Q, E2101Q, E2131Q, E2153QLong QT syndrome, Long qt syndrome 8, Brugada syndrome 3,
Timothy syndrome		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:2797867
GRCh38:
Chr12:2688701
CACNA1C, CACNA1C-AS1Cardiovascular phenotype, not provided, Long QT syndrome,
Brugada syndrome 3, Long qt syndrome 8, Timothy syndrome
Likely benign
(May 11, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr12:2797839
GRCh38:
Chr12:2688673
CACNA1C, CACNA1C-AS1G2052V, G2004V, G2039V, G1993V, G2032V, G2064V, G2012V, G2024V, G2001V, G2010V, G2021V, G2023V, G2045V, G2087VCardiovascular phenotype, Long QT syndrome, Brugada syndrome 3,
Timothy syndrome, not specified		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr12:2791727
GRCh38:
Chr12:2682561
CACNA1C, CACNA1C-AS1R1854Q, R1867Q, R1819Q, R1825Q, R1827Q, R1839Q, R1816Q, R1808Q, R1836Q, R1847Q, R1879Q, R1902Q, R1838Q, R1860QLong QT syndrome, Brugada syndrome 3, Timothy syndrome,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Sep 29, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr12:2716221
GRCh38:
Chr12:2607055
CACNA1CS1114N, S1094N, S1091NLong qt syndrome 8, Brugada syndrome 3, Timothy syndrome,
Long QT syndrome		Uncertain significance
(Aug 18, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:2694552
GRCh38:
Chr12:2585386
CACNA1CP784S, P781STimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Long QT syndrome, Cardiovascular phenotype, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr12:2602398
GRCh38:
Chr12:2493232
CACNA1CT320M, T317MTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
not provided, Long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr12:2788795
GRCh38:
Chr12:2679629
CACNA1C, CACNA1C-AS1Timothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
not provided, Long QT syndrome		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:2791764
GRCh38:
Chr12:2682598
CACNA1C, CACNA1C-AS1Timothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
not specified, Long QT syndrome, Cardiovascular phenotype
Likely benign
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr12:2716186
GRCh38:
Chr12:2607020
CACNA1CTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Long QT syndrome, Cardiovascular phenotype		Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:2786964
GRCh38:
Chr12:2677798
CACNA1C, CACNA1C-AS1Timothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, not provided, Long QT syndrome
Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:2788929
GRCh38:
Chr12:2679763
CACNA1C, CACNA1C-AS1V1804A, V1852A, V1812A, V1845A, V1801A, V1821A, V1823A, V1832A, V1793A, V1810A, V1824ACardiovascular phenotype, Long QT syndrome, Brugada syndrome 3,
Long qt syndrome 8, Timothy syndrome		Conflicting interpretations of pathogenicity
(Mar 29, 2023)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:2797892
GRCh38:
Chr12:2688726
CACNA1C-AS1, CACNA1CA2022P, A2070P, A2057P, A2011P, A2028P, A2039P, A2063P, A2019P, A2030P, A2041P, A2042P, A2082P, A2105P, A2050PCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, Long QT syndrome		Uncertain significance
(Mar 13, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:2794945-2794947
GRCh38:
Chr12:2685779-2685781
CACNA1C, CACNA1C-AS1E1874del, E1909del, E1922del, E1863del, E1871del, E1957del, E1915del, E1934del, E1882del, E1891del, E1893del, E1894del, E1902del, E1880delCardiovascular phenotype, Long QT syndrome, Brugada syndrome 3,
Long qt syndrome 8, Timothy syndrome, not provided
Uncertain significance
(Jun 15, 2023)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:2716271
GRCh38:
Chr12:2607105
CACNA1CV1111I, V1131I, V1108ICardiovascular phenotype, Timothy syndrome, See cases,
not provided, Long QT syndrome, Brugada syndrome 3,
Long qt syndrome 8, Timothy syndrome, Sudden unexplained death
Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:2797862
GRCh38:
Chr12:2688696
CACNA1C, CACNA1C-AS1R2047W, R2012W, R2060W, R2029W, R2031W, R2040W, R2095W, R2001W, R2032W, R2020W, R2072W, R2009W, R2018W, R2053WLong QT syndrome, not specified, Brugada syndrome 3,
Long qt syndrome 8, Timothy syndrome		Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:2795368
GRCh38:
Chr12:2686202
CACNA1C, CACNA1C-AS1R1906Q, R1941Q, R1954Q, R1989Q, R1912Q, R1947Q, R1914Q, R1923Q, R1925Q, R1926Q, R1966Q, R1895Q, R1903Q, R1934QCardiovascular phenotype, not provided, not specified,
Primary dilated cardiomyopathy, Long QT syndrome, Brugada syndrome 3,
Long qt syndrome 8, Timothy syndrome		Conflicting interpretations of pathogenicity
(Mar 24, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr12:2675634
GRCh38:
Chr12:2566468
CACNA1CA519T, A516TVentricular tachycardia, Timothy syndrome, Long qt syndrome 8,
Brugada syndrome 3, Long QT syndrome, Long qt syndrome 8,
not provided, Cardiovascular phenotype		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr12:2558176
GRCh38:
Chr12:2449010
CACNA1CT171MLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Cardiovascular phenotype, Long QT syndrome, not provided
Uncertain significance
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr12:2789681
GRCh38:
Chr12:2680515
CACNA1C, CACNA1C-AS1C1855YLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Long QT syndrome, not specified		Benign/Likely benign
(Jul 10, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr12:2800287
GRCh38:
Chr12:2691121
CACNA1C, CACNA1C-AS1Timothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Long QT syndrome, Cardiovascular phenotype, not specified
Benign/Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr12:2719715
GRCh38:
Chr12:2610549
CACNA1Cnot specified, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, Cardiovascular phenotype, not provided,
Long QT syndrome		Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:2694639
GRCh38:
Chr12:2585473
CACNA1CG813R, G810Rnot provided, Brugada syndrome 3, Timothy syndrome,
Long qt syndrome 8, Long QT syndrome, Timothy syndrome
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:2675599
GRCh38:
Chr12:2566433
CACNA1CR507H, R504HBrugada syndrome 3, Long QT syndromeUncertain significance
(Jun 8, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr12:2794999
GRCh38:
Chr12:2685833
CACNA1C, CACNA1C-AS1A1939P, A1891P, A1926P, A1897P, A1951P, A1880P, A1888P, A1899P, A1974P, A1910P, A1908P, A1911P, A1919P, A1932PCardiovascular phenotype, Timothy syndrome, Brugada syndrome 3,
Long qt syndrome 8, not provided, Long QT syndrome
Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr12:2797824
GRCh38:
Chr12:2688658
CACNA1C, CACNA1C-AS1T1999I, T2034I, T2047I, T2007I, T2016I, T2019I, T2040I, T1988I, T1996I, T2005I, T2027I, T2059I, T2018I, T2082ILong QT syndrome, Long qt syndrome 8, Timothy syndrome,
Brugada syndrome 3, Cardiovascular phenotype		Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:2602513
GRCh38:
Chr12:2493347
CACNA1CLong qt syndrome 8, Timothy syndrome, Brugada syndrome 3,
Cardiovascular phenotype, Long QT syndrome, not specified
Benign/Likely benign
(Oct 22, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:2719827
GRCh38:
Chr12:2610661
CACNA1CV1227I, V1247I, V1224Inot provided, Long qt syndrome 8, Timothy syndrome,
Brugada syndrome 3, Cardiovascular phenotype, Long QT syndrome
Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr12:2800109
GRCh38:
Chr12:2690943
CACNA1C, CACNA1C-AS1K2054R, K2089R, K2102R, K2043R, K2071R, K2073R, K2137R, K2051R, K2114R, K2060R, K2074R, K2062R, K2082R, K2095RCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr12:2716174
GRCh38:
Chr12:2607008
CACNA1CHistory of neurodevelopmental disorder, not specified, Cardiovascular phenotype,
not provided, Long QT syndrome, Timothy syndrome,
Long qt syndrome 8, Brugada syndrome 3, Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Conflicting interpretations of pathogenicity
(Apr 1, 2023)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr12:2690928
GRCh38:
Chr12:2581762
CACNA1CD690N, D687NBrugada syndrome 3, Long qt syndrome 8, Timothy syndrome,
not provided, Long QT syndrome		Uncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr12:2795382
GRCh38:
Chr12:2686216
CACNA1C, CACNA1C-AS1G1911R, G1946R, G1959R, G1939R, G1994R, G1917R, G1952R, G1919R, G1930R, G1931R, G1900R, G1908R, G1928R, G1971RTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, not specified, not provided,
Long QT syndrome, Cardiomyopathy, Timothy syndrome
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr12:2162742-2162743
GRCh38:
Chr12:2053576-2053577
CACNA1CT6fsCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Dec 8, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr12:2162730
GRCh38:
Chr12:2053564
CACNA1CM1TTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Jan 30, 2023)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr12:2800272-2800273
GRCh38:
Chr12:2691106-2691107
CACNA1C-AS1, CACNA1CE2100fs, E2117fs, E2130fs, E2152fs, E2171fs, E2119fs, E2128fs, E2131fs, E2139fs, E2146fs, E2108fs, E2111fs, E2159fs, E2194fsTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, not specified, not provided,
Long QT syndrome		Uncertain significance
(Feb 14, 2023)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:2786968-2786970
GRCh38:
Chr12:2677802-2677804
CACNA1C-AS1, CACNA1CE1678del, E1726del, E1675del, E1695del, E1698del, E1667del, E1686del, E1706del, E1719del, E1684del, E1697delInborn genetic diseases, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr12:2788856
GRCh38:
Chr12:2679690
CACNA1C, CACNA1C-AS1R1780C, R1828C, R1777C, R1797C, R1788C, R1799C, R1808C, R1769C, R1786C, R1800C, R1821CCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Sep 30, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr12:2788716
GRCh38:
Chr12:2679550
CACNA1C, CACNA1C-AS1A1733V, A1781V, A1722V, A1750V, A1752V, A1753V, A1730V, A1739V, A1741V, A1761V, A1774VCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:2224576
GRCh38:
Chr12:2115410
CACNA1CT79MCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Conflicting interpretations of pathogenicity
(Sep 29, 2021)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr12:2224438
GRCh38:
Chr12:2115272
CACNA1CN33SCardiovascular phenotype, Brugada syndrome 3, Timothy syndrome,
not provided, Long QT syndrome		Conflicting interpretations of pathogenicity
(May 18, 2023)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr12:2786926
GRCh38:
Chr12:2677760
CACNA1C, CACNA1C-AS1G1662R, G1710R, G1670R, G1690R, G1703R, G1659R, G1681R, G1682R, G1651R, G1668R, G1679RCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not specified, not provided,
Long QT syndrome		Uncertain significance
(May 21, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:2783753
GRCh38:
Chr12:2674587
CACNA1CK1591N, K1639N, K1580N, K1608N, K1611N, K1599N, K1588N, K1619N, K1632N, K1597N, K1610NCardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, not provided, Long QT syndrome
Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr12:2760762
GRCh38:
Chr12:2651596
CACNA1CP1323LBrugada syndrome 3, Long qt syndrome 8, Timothy syndrome,
not provided		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:2676768
GRCh38:
Chr12:2567602
CACNA1CT568M, T565MBrugada syndrome 3, Long qt syndrome 8, Timothy syndrome,
not provided, Long QT syndrome		Uncertain significance
(Jan 1, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:2666122
GRCh38:
Chr12:2556956
CACNA1CR496Q, R493QTimothy syndrome, Brugada syndrome 3, Long qt syndrome 8,
Cardiovascular phenotype, not specified, not provided,
Long QT syndrome		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
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