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Items: 1 to 100 of 202

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:2800269-2800270
GRCh38:
Chr12:2691103-2691104
CACNA1C, CACNA1C-AS1Timothy syndromeUncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr12:2791799
GRCh38:
Chr12:2682633
CACNA1C, CACNA1C-AS1H1832R, H1840R, H1843R, H1849R, H1851R, H1860R, H1862R, H1863R, H1871R, H1878R, H1884R, H1891R, H1903R, H1926RTimothy syndromeUncertain significance
(May 6, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr12:2622154
GRCh38:
Chr12:2512988
CACNA1CTimothy syndromeUncertain significance
(Mar 2, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr12:2690788
GRCh38:
Chr12:2581622
CACNA1CS640FTimothy syndromePathogenic
(Sep 29, 2022)		no assertion criteria provided
5.
GRCh37:
Chr12:2763708
GRCh38:
Chr12:2654542
CACNA1CBrugada syndrome 3, Long qt syndrome 8, Timothy syndrome
Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
6.
GRCh37:
Chr12:2786377
GRCh38:
Chr12:2677211
CACNA1C, CACNA1C-AS1L1638P, L1646P, L1649P, L1655P, L1657P, L1666P, L1668P, L1669P, L1677P, L1690P, L1697PTimothy syndromeUncertain significance
(Feb 2, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr12:2743500
GRCh38:
Chr12:2634334
CACNA1CL1289W, L1309W, L1317W, L1337WTimothy syndromeUncertain significance
(Feb 2, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr12:2676918
GRCh38:
Chr12:2567752
CACNA1CV615G, V618GTimothy syndromePathogenic
(May 4, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr12:2558259
GRCh38:
Chr12:2449093
CACNA1CD199NTimothy syndromePathogenic
(May 4, 2022)		criteria provided, single submitter
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
GRCh37:
Chr12:2558247
GRCh38:
Chr12:2449081
CACNA1CW195RTimothy syndromeUncertain significance
(Feb 23, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr12:2791220
GRCh38:
Chr12:2682054
CACNA1C, CACNA1C-AS1R1850K, R1898KTimothy syndromeUncertain significance
(May 25, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr12:2694651
GRCh38:
Chr12:2585485
CACNA1CA815fs, A818fsTimothy syndromeLikely pathogenic
(Aug 28, 2019)		criteria provided, single submitter
24.
GRCh37:
Chr12:2789546
GRCh38:
Chr12:2680380
CACNA1C, CACNA1C-AS1M1810RTimothy syndromeUncertain significance
(Apr 13, 2020)		criteria provided, single submitter
25.
GRCh37:
Chr12:2788627
GRCh38:
Chr12:2679461
CACNA1C, CACNA1C-AS1F1692L, F1700L, F1703L, F1709L, F1711L, F1720L, F1722L, F1723L, F1731L, F1744L, F1751LTimothy syndromeUncertain significance
(Aug 6, 2021)		no assertion criteria provided
26.
GRCh37:
Chr12:2717820
GRCh38:
Chr12:2608654
CACNA1CV1164A, V1167A, V1187Anot provided, Timothy syndromePathogenic/Likely pathogenic
(Jun 21, 2023)		criteria provided, multiple submitters, no conflicts
27.
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
28.
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
29.
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
30.
GRCh37:
Chr12:2717780
GRCh38:
Chr12:2608614
CACNA1CA1151T, A1154T, A1174TLong QT syndrome, Timothy syndrome, Cardiovascular phenotype
Uncertain significance
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:2714857
GRCh38:
Chr12:2605691
CACNA1CC1018R, C1021R, C1041RLong QT syndrome, Timothy syndrome, not provided
Conflicting interpretations of pathogenicity
(Jul 24, 2023)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr12:2760966
GRCh38:
Chr12:2651800
CACNA1CTimothy syndrome, not providedBenign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr12:2763013
GRCh38:
Chr12:2653847
CACNA1CV1350L, V1352L, V1360L, V1363L, V1380L, V1383L, V1385L, V1391L, V1411LTimothy syndromePathogenic
(May 13, 2021)		no assertion criteria provided
34.
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
35.
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
36.
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
37.
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
38.
GRCh37:
Chr12:2690777
GRCh38:
Chr12:2581611
CACNA1CLong QT syndrome, Timothy syndromeConflicting interpretations of pathogenicity
(Jun 29, 2022)		criteria provided, conflicting interpretations
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
GRCh37:
Chr12:2566837
GRCh38:
Chr12:2457671
CACNA1CV241ATimothy syndrome, Brugada syndrome 3Likely pathogenic
(Mar 13, 2018)		criteria provided, single submitter
47.
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
48.
GRCh37:
Chr12:2614116
GRCh38:
Chr12:2504950
CACNA1CTimothy syndromeUncertain significance
(Jan 28, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr12:2675602
GRCh38:
Chr12:2566436
CACNA1CR508Q, R505QTimothy syndrome, Long QT syndromeUncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:2800276
GRCh38:
Chr12:2691110
CACNA1C, CACNA1C-AS1G2099C, G2110C, G2118C, G2151C, G2158C, G2107C, G2116C, G2127C, G2138C, G2145C, G2193C, G2129C, G2130C, G2170CLong QT syndrome, Timothy syndromeUncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
51.
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
52.
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
53.
GRCh37:
Chr12:2774047
GRCh38:
Chr12:2664881
CACNA1CK1430T, K1447T, K1450T, K1458T, K1478T, K1417T, K1419T, K1427T, K1452TTimothy syndromeUncertain significance
(May 28, 2019)		criteria provided, single submitter
54.
GRCh37:
Chr12:2602552
GRCh38:
Chr12:2493386
CACNA1CW368*, W371*Timothy syndromeLikely pathogenic
(May 28, 2019)		criteria provided, single submitter
55.
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
56.
GRCh37:
Chr12:2719934
GRCh38:
Chr12:2610768
CACNA1CTimothy syndrome, Long QT syndrome, not provided
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:2715687
GRCh38:
Chr12:2606521
CACNA1CLong QT syndrome, Timothy syndrome, not provided
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr12:2659045
GRCh38:
Chr12:2549879
CACNA1CTimothy syndrome, Long QT syndromeBenign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr12:2791754-2791756
GRCh38:
Chr12:2682588-2682590
CACNA1C, CACNA1C-AS1E1827del, E1830del, E1858del, E1878del, E1819del, E1847del, E1849del, E1913del, E1850del, E1865del, E1836del, E1838del, E1871del, E1890delLong QT syndrome, Timothy syndromeUncertain significance
(Sep 5, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:2705356
GRCh38:
Chr12:2596190
CACNA1Cnot provided, Long QT syndrome, Timothy syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:2795255
GRCh38:
Chr12:2686089
CACNA1C, CACNA1C-AS1not provided, Long QT syndrome, Timothy syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:2783476
GRCh38:
Chr12:2674310
CACNA1CLong QT syndrome, Timothy syndrome, not provided
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:2757782
GRCh38:
Chr12:2648616
CACNA1Cnot provided, Long QT syndrome, Timothy syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:2757769
GRCh38:
Chr12:2648603
CACNA1Cnot provided, Long QT syndrome, Timothy syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr12:2757756
GRCh38:
Chr12:2648590
CACNA1Cnot provided, Timothy syndrome, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:2720988
GRCh38:
Chr12:2611822
CACNA1Cnot provided, Timothy syndrome, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:2706720
GRCh38:
Chr12:2597554
CACNA1Cnot provided, Timothy syndrome, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr12:2690702
GRCh38:
Chr12:2581536
CACNA1Cnot provided, Timothy syndrome, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:2676683
GRCh38:
Chr12:2567517
CACNA1Cnot provided, Timothy syndrome, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:2613521
GRCh38:
Chr12:2504355
CACNA1Cnot provided, Timothy syndrome, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:2760708
GRCh38:
Chr12:2651542
CACNA1CTimothy syndrome, not providedBenign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:2760970
GRCh38:
Chr12:2651804
CACNA1CTimothy syndrome, not providedBenign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:2774668
GRCh38:
Chr12:2665502
CACNA1CTimothy syndrome, not provided, Long QT syndrome
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
74.
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
75.
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
76.
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
77.
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
78.
GRCh37:
Chr12:2693713
GRCh38:
Chr12:2584547
CACNA1CA757P, A754Pnot provided, Timothy syndromeUncertain significance
(Nov 1, 2019)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:2659130
GRCh38:
Chr12:2549964
CACNA1CT471N, T468NTimothy syndromeUncertain significance
(Nov 2, 2018)		criteria provided, single submitter
80.
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
81.
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
82.
GRCh37:
Chr12:2788743
GRCh38:
Chr12:2679577
CACNA1C, CACNA1C-AS1S1742L, S1790L, S1748L, S1750L, S1761L, S1762L, S1770L, S1783L, S1739L, S1731L, S1759LLong QT syndrome, Timothy syndrome, Cardiovascular phenotype
Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
83.
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
84.
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
85.
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
86.
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
87.
GRCh37:
Chr12:2690777
GRCh38:
Chr12:2581611
CACNA1CN639K, N636KCongenital long QT syndrome, Timothy syndrome, Long QT syndrome
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
88.
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
89.
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
90.
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
91.
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
92.
GRCh37:
Chr12:2788773
GRCh38:
Chr12:2679607
CACNA1C, CACNA1C-AS1T1800I, T1752I, T1760I, T1749I, T1771I, T1780I, T1793I, T1758I, T1769I, T1772I, T1741ILong QT syndrome, Timothy syndromeUncertain significance
(Jun 29, 2022)		criteria provided, multiple submitters, no conflicts
93.
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
94.
GRCh37:
Chr12:2675688
GRCh38:
Chr12:2566522
CACNA1CN537D, N534DTimothy syndrome, Inborn genetic diseasesLikely pathogenic
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
95.
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
96.
GRCh37:
Chr12:2795379
GRCh38:
Chr12:2686213
CACNA1C, CACNA1C-AS1R1910*, R1945*, R1958*, R1907*, R1951*, R1899*, R1918*, R1927*, R1929*, R1930*, R1938*, R1970*, R1916*, R1993*not provided, Timothy syndromeUncertain significance
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:2788953
GRCh38:
Chr12:2679787
CACNA1C, CACNA1C-AS1S1812N, S1860N, S1829N, S1801N, S1809N, S1820N, S1832N, S1853N, S1818N, S1831N, S1840NTimothy syndrome, Inborn genetic diseases, not provided
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
98.
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
99.
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
100.
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
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