NM_000719.7(CACNA1C):c.77C>T (p.Ala26Val) |
single nucleotide variant |
Long QT syndrome [RCV000529862] |
Chr12:2115251 [GRCh38] Chr12:2224417 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1989C>T (p.Ile663=) |
single nucleotide variant |
Long QT syndrome [RCV000543647] |
Chr12:2581683 [GRCh38] Chr12:2690849 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn) |
single nucleotide variant |
Long QT syndrome [RCV000547243]|Ventricular tachycardia [RCV000852444] |
Chr12:2608545 [GRCh38] Chr12:2717711 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NC_000012.11:g.(?_2224370)_(2224731_?)dup |
duplication |
Long QT syndrome [RCV000526912] |
Chr12:2224370..2224731 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621455]|Long QT syndrome [RCV001220486]|not provided [RCV000522519] |
Chr12:2493262 [GRCh38] Chr12:2602428 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5785-5C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002358442]|Long QT syndrome [RCV000544299] |
Chr12:2688442 [GRCh38] Chr12:2797608 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NC_000012.11:g.(?_2794882)_(2800385_?)dup |
duplication |
Long QT syndrome [RCV000547576] |
Chr12:2685716..2691219 [GRCh38] Chr12:2794882..2800385 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6275G>A (p.Gly2092Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358446]|Long QT syndrome [RCV000527982] |
Chr12:2691057 [GRCh38] Chr12:2800223 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341263]|Long QT syndrome [RCV000546693]|not provided [RCV001540683] |
Chr12:2679488 [GRCh38] Chr12:2788654 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618206]|Long QT syndrome [RCV000528554]|Timothy syndrome [RCV000763837] |
Chr12:2682561 [GRCh38] Chr12:2791727 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NC_000012.11:g.(?_2162709)_(2666163_?)dup |
duplication |
Long QT syndrome [RCV000551199] |
Chr12:2053543..2556997 [GRCh38] Chr12:2162709..2666163 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) |
single nucleotide variant |
not provided [RCV000523331] |
Chr12:2493325 [GRCh38] Chr12:2602491 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5917C>A (p.Arg1973=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358443]|Long QT syndrome [RCV000532165] |
Chr12:2688579 [GRCh38] Chr12:2797745 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4233-6C>A |
single nucleotide variant |
Long QT syndrome [RCV000526012] |
Chr12:2664819 [GRCh38] Chr12:2773985 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) |
single nucleotide variant |
not provided [RCV000523812] |
Chr12:2605097 [GRCh38] Chr12:2714263 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.372-15G>A |
single nucleotide variant |
Long QT syndrome [RCV002054480]|Timothy syndrome [RCV002496445]|not provided [RCV001610297]|not specified [RCV000253674] |
Chr12:2120310 [GRCh38] Chr12:2229476 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4624-297A>G |
single nucleotide variant |
not provided [RCV001564358] |
Chr12:2668636 [GRCh38] Chr12:2777802 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413449]|Long QT syndrome [RCV000542845] |
Chr12:2567771 [GRCh38] Chr12:2676937 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3493G>A (p.Val1165Ile) |
single nucleotide variant |
not provided [RCV003321107] |
Chr12:2608647 [GRCh38] Chr12:2717813 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=) |
single nucleotide variant |
Long QT syndrome [RCV000544521] |
Chr12:2582938 [GRCh38] Chr12:2692104 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5924A>C (p.Glu1975Ala) |
single nucleotide variant |
Long QT syndrome [RCV000544633] |
Chr12:2688586 [GRCh38] Chr12:2797752 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618390]|Long QT syndrome [RCV000546112]|Timothy syndrome [RCV000763839]|not specified [RCV001255539] |
Chr12:2688673 [GRCh38] Chr12:2797839 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002525289]|Long QT syndrome [RCV000543032]|not provided [RCV002264954] |
Chr12:2611975 [GRCh38] Chr12:2721141 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618548]|Long QT syndrome [RCV000547426]|not specified [RCV002222544] |
Chr12:2691016 [GRCh38] Chr12:2800182 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2452G>A (p.Ala818Thr) |
single nucleotide variant |
Long QT syndrome [RCV000526538] |
Chr12:2585488 [GRCh38] Chr12:2694654 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6000C>T (p.Pro2000=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620165]|Long QT syndrome [RCV001081048] |
Chr12:2688662 [GRCh38] Chr12:2797828 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5039A>G (p.Asp1680Gly) |
single nucleotide variant |
Long QT syndrome [RCV000545194] |
Chr12:2677815 [GRCh38] Chr12:2786981 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) |
single nucleotide variant |
CACNA1C-related condition [RCV003419923]|Cardiovascular phenotype [RCV002350180]|Long QT syndrome [RCV000531826] |
Chr12:2686214 [GRCh38] Chr12:2795380 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3344A>G (p.Glu1115Gly) |
single nucleotide variant |
Long QT syndrome [RCV000529667] |
Chr12:2607118 [GRCh38] Chr12:2716284 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1381C>A (p.Pro461Thr) |
single nucleotide variant |
Long QT syndrome [RCV000524902] |
Chr12:2512975 [GRCh38] Chr12:2622141 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5245G>A (p.Val1749Met) |
single nucleotide variant |
CACNA1C-related condition [RCV003403258]|Long QT syndrome [RCV000547612] |
Chr12:2679597 [GRCh38] Chr12:2788763 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) |
single nucleotide variant |
CACNA1C-Related Disorders [RCV000853375]|Cardiovascular phenotype [RCV002354166]|Congenital long QT syndrome [RCV000058285]|Long QT syndrome [RCV000199739]|Long qt syndrome 8 [RCV003332999]|Timothy syndrome [RCV000019199]|Timothy syndrome [RCV003224103]|not provided [RCV000170771] |
Chr12:2504944 [GRCh38] Chr12:2614110 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|not provided |
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) |
single nucleotide variant |
Congenital long QT syndrome [RCV000058284]|Long QT syndrome [RCV001851937]|Timothy syndrome [RCV000019200]|not provided [RCV000422493] |
Chr12:2504932 [GRCh38] Chr12:2614098 [GRCh37] Chr12:12p13.33 |
pathogenic|not provided |
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) |
single nucleotide variant |
Brugada syndrome 3 [RCV000019201]|Brugada syndrome [RCV000058286]|Cardiovascular phenotype [RCV000618330]|Long QT syndrome 1 [RCV001256682]|Long QT syndrome [RCV001085545]|Timothy syndrome [RCV000334098]|not provided [RCV000586094]|not specified [RCV000170775] |
Chr12:2550020 [GRCh38] Chr12:2659186 [GRCh37] Chr12:12p13.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) |
single nucleotide variant |
Brugada syndrome 3 [RCV000019202]|Brugada syndrome [RCV000058283] |
Chr12:2115290 [GRCh38] Chr12:2224456 [GRCh37] Chr12:12p13.33 |
pathogenic|not provided |
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841520]|Cardiovascular phenotype [RCV000242482]|History of neurodevelopmental disorder [RCV000715356]|Long QT syndrome [RCV000205452]|not provided [RCV001668135]|not specified [RCV000079279] |
Chr12:2115345 [GRCh38] Chr12:2224511 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5680+15C>T |
single nucleotide variant |
Cardiac arrhythmia [RCV001841521]|Long QT syndrome [RCV002054481]|not provided [RCV001711085]|not specified [RCV000079304] |
Chr12:2685857 [GRCh38] Chr12:2795023 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841522]|Cardiovascular phenotype [RCV000619023]|Long QT syndrome [RCV001852585] |
Chr12:2688693 [GRCh38] Chr12:2797859 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001841523]|Long QT syndrome [RCV001852586]|not specified [RCV000170764] |
Chr12:2691089 [GRCh38] Chr12:2800255 [GRCh37] Chr12:12p13.33 |
likely pathogenic|likely benign|uncertain significance |
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 |
copy number loss |
See cases [RCV000050637] |
Chr12:121255..3968447 [GRCh38] Chr12:282465..4077613 [GRCh37] Chr12:100682..3947874 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3 |
copy number gain |
See cases [RCV000051953] |
Chr12:1453550..2575642 [GRCh38] Chr12:1562716..2684808 [GRCh37] Chr12:1432977..2555069 [NCBI36] Chr12:12p13.33 |
uncertain significance |
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 |
copy number loss |
See cases [RCV000052777] |
Chr12:2492728..4829842 [GRCh38] Chr12:2601894..4939008 [GRCh37] Chr12:2472155..4809269 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33(chr12:2686912-2733167)x1 |
copy number loss |
See cases [RCV000052778] |
Chr12:2686912..2733167 [GRCh38] Chr12:2796078..2842333 [GRCh37] Chr12:2666339..2712594 [NCBI36] Chr12:12p13.33 |
pathogenic |
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 |
copy number loss |
See cases [RCV000052776] |
Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22 |
pathogenic |
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 |
copy number gain |
See cases [RCV000053662] |
Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1 |
pathogenic |
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 |
copy number gain |
See cases [RCV000053663] |
Chr12:121055..7272606 [GRCh38] Chr12:282465..7425202 [GRCh37] Chr12:100482..7316469 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] |
Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 |
copy number gain |
See cases [RCV000053665] |
Chr12:199896..3284963 [GRCh38] Chr12:309062..3394129 [GRCh37] Chr12:179323..3264390 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 |
copy number gain |
See cases [RCV000053666] |
Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|See cases [RCV000053669] |
Chr12:1764264..4231744 [GRCh38] Chr12:1873430..4340910 [GRCh37] Chr12:1743691..4211171 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 |
copy number gain |
See cases [RCV000053660] |
Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.6(CACNA1C):c.676G>A (p.Gly226Arg) |
single nucleotide variant |
Malignant melanoma [RCV000069945] |
Chr12:2457625 [GRCh38] Chr12:2566791 [GRCh37] Chr12:2437052 [NCBI36] Chr12:12p13.33 |
not provided |
NM_000719.6(CACNA1C):c.1105C>T (p.Leu369=) |
single nucleotide variant |
Malignant melanoma [RCV000069946] |
Chr12:2493378 [GRCh38] Chr12:2602544 [GRCh37] Chr12:2472805 [NCBI36] Chr12:12p13.33 |
not provided |
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246733]|History of neurodevelopmental disorder [RCV000717686]|Long QT syndrome [RCV000205361]|not provided [RCV001711167]|not specified [RCV000374014] |
Chr12:2608541 [GRCh38] Chr12:2717707 [GRCh37] Chr12:2587968 [NCBI36] Chr12:12p13.33 |
benign|likely benign|not provided |
NM_001129827.1(CACNA1C):c.3908G>A (p.Trp1303Ter) |
single nucleotide variant |
Malignant melanoma [RCV000069949] |
Chr12:2633648 [GRCh38] Chr12:2742814 [GRCh37] Chr12:2613075 [NCBI36] Chr12:12p13.33 |
not provided |
NM_000719.6(CACNA1C):c.4684C>T (p.Leu1562=) |
single nucleotide variant |
Malignant melanoma [RCV000069950] |
Chr12:2668993 [GRCh38] Chr12:2778159 [GRCh37] Chr12:2648420 [NCBI36] Chr12:12p13.33 |
not provided |
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) |
single nucleotide variant |
Brugada syndrome [RCV000058287]|Long QT syndrome [RCV000475353]|Timothy syndrome [RCV001795047]|Timothy syndrome [RCV002490650] |
Chr12:2607117 [GRCh38] Chr12:2716283 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance|not provided |
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) |
single nucleotide variant |
Brugada syndrome (shorter-than-normal QT interval) [RCV000148442]|Cardiovascular phenotype [RCV002313739]|Long QT syndrome [RCV001084766]|not provided [RCV000058288]|not specified [RCV000417375] |
Chr12:2685801 [GRCh38] Chr12:2794967 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) |
single nucleotide variant |
Brugada syndrome (shorter-than-normal QT interval) [RCV000148443]|Brugada syndrome 3 [RCV000678943]|Brugada syndrome [RCV000058289]|Cardiovascular phenotype [RCV000620928]|Long QT syndrome [RCV001086309]|Timothy syndrome [RCV000988771]|not provided [RCV000724590]|not specified [RCV000212341] |
Chr12:2688702 [GRCh38] Chr12:2797868 [GRCh37] Chr12:12p13.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) |
single nucleotide variant |
Brugada syndrome [RCV000058290]|Cardiovascular phenotype [RCV002362692]|Long QT syndrome [RCV001089169]|Timothy syndrome [RCV000678917]|not provided [RCV000170829] |
Chr12:2691170 [GRCh38] Chr12:2800336 [GRCh37] Chr12:12p13.33 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000719.6(CACNA1C):c.478-83961A>T |
single nucleotide variant |
Lung cancer [RCV000110901] |
Chr12:2365015 [GRCh38] Chr12:2474181 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.478-70635G>T |
single nucleotide variant |
Lung cancer [RCV000110904] |
Chr12:2378341 [GRCh38] Chr12:2487507 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.478-12473G>C |
single nucleotide variant |
Lung cancer [RCV000110910] |
Chr12:2436503 [GRCh38] Chr12:2545669 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.618-1489C>T |
single nucleotide variant |
Lung cancer [RCV000110912] |
Chr12:2456078 [GRCh38] Chr12:2565244 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.758-12212C>T |
single nucleotide variant |
Lung cancer [RCV000110913] |
Chr12:2473892 [GRCh38] Chr12:2583058 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.1509-271G>A |
single nucleotide variant |
Lung cancer [RCV000110917] |
Chr12:2566151 [GRCh38] Chr12:2675317 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622244]|History of neurodevelopmental disorder [RCV000716165]|Long QT syndrome [RCV001082290]|Timothy syndrome [RCV000306251]|Timothy syndrome [RCV002498393]|not provided [RCV000079275]|not specified [RCV000173030] |
Chr12:2115283 [GRCh38] Chr12:2224449 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro) |
single nucleotide variant |
not provided [RCV000079276] |
Chr12:2512847 [GRCh38] Chr12:2622013 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000250456]|History of neurodevelopmental disorder [RCV000719050]|Long QT syndrome [RCV001082734]|not provided [RCV000723668]|not specified [RCV000079277] |
Chr12:2512953 [GRCh38] Chr12:2622119 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399469]|Long QT syndrome [RCV001087995]|not provided [RCV000723728] |
Chr12:2566467 [GRCh38] Chr12:2675633 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) |
single nucleotide variant |
not provided [RCV000079280] |
Chr12:2584512 [GRCh38] Chr12:2693678 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621900]|Long QT syndrome [RCV001084502]|not provided [RCV000079281]|not specified [RCV001256728] |
Chr12:2584558 [GRCh38] Chr12:2693724 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002515760]|Long QT syndrome [RCV001064085]|Timothy syndrome [RCV002490690]|not provided [RCV000079282] |
Chr12:2585432 [GRCh38] Chr12:2694598 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247755]|History of neurodevelopmental disorder [RCV000715437]|Long QT syndrome [RCV000860432]|not specified [RCV000079283] |
Chr12:2585472 [GRCh38] Chr12:2694638 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620022]|History of neurodevelopmental disorder [RCV000718458]|Hypertrophic cardiomyopathy [RCV000852662]|Long QT syndrome [RCV001080618]|Timothy syndrome [RCV002470758]|not provided [RCV001668189]|not specified [RCV000079284] |
Chr12:2585485 [GRCh38] Chr12:2694651 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3156+6G>C |
single nucleotide variant |
Long QT syndrome [RCV001854400]|not provided [RCV000079285] |
Chr12:2605792 [GRCh38] Chr12:2714958 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453399]|Long QT syndrome [RCV001403645]|not provided [RCV000079286] |
Chr12:2608529 [GRCh38] Chr12:2717695 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620526]|History of neurodevelopmental disorder [RCV000716419]|Long QT syndrome [RCV001079799]|not provided [RCV000723669]|not specified [RCV000248726] |
Chr12:2610624 [GRCh38] Chr12:2719790 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617472]|History of neurodevelopmental disorder [RCV000716637]|Long QT syndrome [RCV001086024]|not provided [RCV000723666]|not specified [RCV000250233] |
Chr12:2611965 [GRCh38] Chr12:2721131 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000245667]|History of neurodevelopmental disorder [RCV000715405]|Long QT syndrome [RCV000860299]|Timothy syndrome [RCV001554531]|not provided [RCV001811360]|not specified [RCV000079289] |
Chr12:2611971 [GRCh38] Chr12:2721137 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354275]|Long QT syndrome [RCV001083964]|not provided [RCV000723717]|not specified [RCV000781193] |
Chr12:2651663 [GRCh38] Chr12:2760829 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser) |
single nucleotide variant |
not provided [RCV000079291] |
Chr12:2664901 [GRCh38] Chr12:2774067 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000245788]|History of neurodevelopmental disorder [RCV000715573]|Long QT syndrome [RCV000456879]|not provided [RCV001711224]|not specified [RCV000079292] |
Chr12:2665667 [GRCh38] Chr12:2774833 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336231]|Long QT syndrome [RCV001078863]|not provided [RCV000079293] |
Chr12:2668950 [GRCh38] Chr12:2778116 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000244441]|History of neurodevelopmental disorder [RCV000717070]|Long QT syndrome [RCV000203987]|Timothy syndrome [RCV002498394]|not provided [RCV001811361]|not specified [RCV000079294] |
Chr12:2679449 [GRCh38] Chr12:2788615 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620146]|History of neurodevelopmental disorder [RCV000718894]|Long QT syndrome [RCV000468235]|not provided [RCV001675603]|not specified [RCV000079295] |
Chr12:2679491 [GRCh38] Chr12:2788657 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) |
single nucleotide variant |
Brugada syndrome [RCV000288792]|Cardiovascular phenotype [RCV002336232]|Long QT syndrome [RCV001081791]|Restrictive cardiomyopathy [RCV000157124]|Timothy syndrome [RCV003224137]|not provided [RCV000079296]|not specified [RCV000212340] |
Chr12:2679502 [GRCh38] Chr12:2788668 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248885]|History of neurodevelopmental disorder [RCV000715385]|Long QT syndrome [RCV000860167]|Timothy syndrome [RCV001554436]|not specified [RCV000079297] |
Chr12:2449020 [GRCh38] Chr12:2558186 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251547]|History of neurodevelopmental disorder [RCV000715230]|Long QT syndrome [RCV000860304]|Timothy syndrome [RCV001554654]|not specified [RCV000079298] |
Chr12:2679713 [GRCh38] Chr12:2788879 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622114]|History of neurodevelopmental disorder [RCV000717889]|Long QT syndrome [RCV001082912]|not provided [RCV000755886]|not specified [RCV000079299] |
Chr12:2682556 [GRCh38] Chr12:2791722 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254117]|History of neurodevelopmental disorder [RCV000716290]|Long QT syndrome [RCV001082905]|not provided [RCV000590590]|not specified [RCV000079300] |
Chr12:2685766 [GRCh38] Chr12:2794932 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251201]|History of neurodevelopmental disorder [RCV000715734]|Long QT syndrome [RCV000200821]|not provided [RCV001647053]|not specified [RCV000079301] |
Chr12:2685811 [GRCh38] Chr12:2794977 [GRCh37] Chr12:12p13.33 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular cardiomyopathy [RCV000852666]|Cardiovascular phenotype [RCV000621082]|History of neurodevelopmental disorder [RCV000715413]|Long QT syndrome [RCV001079466]|Timothy syndrome [RCV002272059]|not provided [RCV000171751]|not specified [RCV000079302] |
Chr12:2685827 [GRCh38] Chr12:2794993 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000719.7(CACNA1C):c.5680+11C>T |
single nucleotide variant |
Long QT syndrome [RCV002055108]|not provided [RCV001610358]|not specified [RCV000079303] |
Chr12:2685853 [GRCh38] Chr12:2795019 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000241853]|History of neurodevelopmental disorder [RCV000716980]|Long QT syndrome [RCV001085859]|Short QT syndrome [RCV000157127]|not provided [RCV000079305]|not specified [RCV000223757] |
Chr12:2688580 [GRCh38] Chr12:2797746 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.617+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002055109]|Timothy syndrome [RCV001554437]|not provided [RCV001811362]|not specified [RCV000079306] |
Chr12:2449132 [GRCh38] Chr12:2558298 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.617+19T>C |
single nucleotide variant |
Long QT syndrome [RCV002055110]|Timothy syndrome [RCV001554438]|not specified [RCV000079307] |
Chr12:2449134 [GRCh38] Chr12:2558300 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) |
single nucleotide variant |
Long QT syndrome [RCV001048681]|Timothy syndrome [RCV000515652]|not provided [RCV000079308] |
Chr12:2115245 [GRCh38] Chr12:2224411 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248618]|History of neurodevelopmental disorder [RCV000717880]|Long QT syndrome [RCV000227726]|not provided [RCV001636638]|not specified [RCV000079309] |
Chr12:2486117 [GRCh38] Chr12:2595283 [GRCh37] Chr12:12p13.33 |
benign |
NM_152640.3(DCP1B):c.292C>T (p.Pro98Ser) |
single nucleotide variant |
Malignant melanoma [RCV000069927] |
Chr12:1993291 [GRCh38] Chr12:2102457 [GRCh37] Chr12:1972718 [NCBI36] Chr12:12p13.33 |
not provided |
NM_000719.7(CACNA1C):c.478-19T>G |
single nucleotide variant |
Long QT syndrome [RCV002055438]|not specified [RCV000124064] |
Chr12:2448957 [GRCh38] Chr12:2558123 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354311]|Long QT syndrome [RCV000456356]|not specified [RCV000124068] |
Chr12:2457567 [GRCh38] Chr12:2566733 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) |
single nucleotide variant |
Brugada syndrome [RCV000365427]|Cardiovascular phenotype [RCV002444585]|Long QT syndrome [RCV000460955]|Timothy syndrome [RCV000310705]|not provided [RCV001719897]|not specified [RCV000124069] |
Chr12:2486192 [GRCh38] Chr12:2595358 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.966C>T (p.His322=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618328]|History of neurodevelopmental disorder [RCV000719849]|Long QT syndrome [RCV001087219]|not provided [RCV000586377]|not specified [RCV000124070] |
Chr12:2493239 [GRCh38] Chr12:2602405 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1114-292C>T |
single nucleotide variant |
Long QT syndrome [RCV002055439]|not specified [RCV000124071] |
Chr12:2504550 [GRCh38] Chr12:2613716 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254163]|History of neurodevelopmental disorder [RCV000718831]|Long QT syndrome [RCV000474191]|not provided [RCV003390811]|not specified [RCV000124072] |
Chr12:2567693 [GRCh38] Chr12:2676859 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2339+20C>A |
single nucleotide variant |
Long QT syndrome [RCV002055440]|not specified [RCV000124073] |
Chr12:2584637 [GRCh38] Chr12:2693803 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2530+9C>T |
single nucleotide variant |
not specified [RCV000124075] |
Chr12:2585913 [GRCh38] Chr12:2695079 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453446]|Long QT syndrome [RCV000550557]|Timothy syndrome [RCV002483241]|not specified [RCV000124076] |
Chr12:2593319 [GRCh38] Chr12:2702485 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433618]|Long QT syndrome [RCV000234478]|not specified [RCV000124077] |
Chr12:2595922 [GRCh38] Chr12:2705088 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2793+10G>A |
single nucleotide variant |
Long QT syndrome [RCV002055441]|not specified [RCV000124078] |
Chr12:2596013 [GRCh38] Chr12:2705179 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3209+12T>C |
single nucleotide variant |
Long QT syndrome [RCV002055442]|not specified [RCV000124079] |
Chr12:2606675 [GRCh38] Chr12:2715841 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354312]|Long QT syndrome [RCV000559997]|not specified [RCV000124081] |
Chr12:2648495 [GRCh38] Chr12:2757661 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254466]|History of neurodevelopmental disorder [RCV000715546]|Long QT syndrome [RCV000466502]|not specified [RCV000124082] |
Chr12:2651732 [GRCh38] Chr12:2760898 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4074+14A>G |
single nucleotide variant |
Long QT syndrome [RCV002055443]|Timothy syndrome [RCV002477327]|not specified [RCV000124083] |
Chr12:2651782 [GRCh38] Chr12:2760948 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326830]|Long QT syndrome [RCV000866375]|not provided [RCV001532199]|not specified [RCV000124084] |
Chr12:2655176 [GRCh38] Chr12:2764342 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4527-20T>C |
single nucleotide variant |
not specified [RCV000124085] |
Chr12:2666666 [GRCh38] Chr12:2775832 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4624-9C>T |
single nucleotide variant |
Long QT syndrome [RCV000471587]|not provided [RCV001811995]|not specified [RCV000124086] |
Chr12:2668924 [GRCh38] Chr12:2778090 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617383]|Long QT syndrome [RCV001088840]|not provided [RCV000588823]|not specified [RCV000124087] |
Chr12:2668968 [GRCh38] Chr12:2778134 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000719.7(CACNA1C):c.4829-7G>A |
single nucleotide variant |
Long QT syndrome [RCV000465546]|not provided [RCV003389755]|not specified [RCV000124088] |
Chr12:2677087 [GRCh38] Chr12:2786253 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254153]|History of neurodevelopmental disorder [RCV000718643]|Long QT syndrome [RCV000466096]|not provided [RCV001811996]|not specified [RCV000124089] |
Chr12:2677840 [GRCh38] Chr12:2787006 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5091+18G>A |
single nucleotide variant |
Long QT syndrome [RCV002055444]|not provided [RCV001811997]|not specified [RCV000124090] |
Chr12:2677885 [GRCh38] Chr12:2787051 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249460]|History of neurodevelopmental disorder [RCV000716788]|Long QT syndrome [RCV001086120]|not provided [RCV000724269]|not specified [RCV000225692] |
Chr12:2679566 [GRCh38] Chr12:2788732 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243277]|History of neurodevelopmental disorder [RCV000715332]|Long QT syndrome [RCV000470155]|not provided [RCV001811998]|not specified [RCV000152906] |
Chr12:2679644 [GRCh38] Chr12:2788810 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5331C>T (p.Arg1777=) |
single nucleotide variant |
Long QT syndrome [RCV002514664]|not specified [RCV000124094] |
Chr12:2679683 [GRCh38] Chr12:2788849 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) |
single nucleotide variant |
Brugada syndrome [RCV000355697]|Cardiovascular phenotype [RCV000619661]|History of neurodevelopmental disorder [RCV000715633]|Long QT syndrome [RCV001080869]|not provided [RCV000588907]|not specified [RCV000124095] |
Chr12:2679712 [GRCh38] Chr12:2788878 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620596]|Long QT syndrome [RCV002055445]|not provided [RCV000726471]|not specified [RCV000124097] |
Chr12:2679776 [GRCh38] Chr12:2788942 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.371+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002055446]|not provided [RCV001811999]|not specified [RCV000124098] |
Chr12:2115562 [GRCh38] Chr12:2224728 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246995]|Long QT syndrome [RCV001086467]|not provided [RCV000724037]|not specified [RCV000225709] |
Chr12:2682634 [GRCh38] Chr12:2791800 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621076]|Long QT syndrome [RCV000476542]|not specified [RCV000124104] |
Chr12:2120328 [GRCh38] Chr12:2229494 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326831]|Long QT syndrome [RCV000542450]|not specified [RCV000124105] |
Chr12:2120379 [GRCh38] Chr12:2229545 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336392]|Long QT syndrome [RCV000471082]|Timothy syndrome [RCV002492699]|not specified [RCV000170757] |
Chr12:2679509 [GRCh38] Chr12:2788675 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619138]|Long QT syndrome [RCV000535148]|not provided [RCV003390887]|not specified [RCV000170758] |
Chr12:2679587 [GRCh38] Chr12:2788753 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5445-586C>T |
single nucleotide variant |
Timothy syndrome [RCV001554655]|not specified [RCV000124099] |
Chr12:2681964 [GRCh38] Chr12:2791130 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5445-584A>G |
single nucleotide variant |
Timothy syndrome [RCV001554656]|not specified [RCV000124100] |
Chr12:2681966 [GRCh38] Chr12:2791132 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5445-511= |
single nucleotide variant |
Timothy syndrome [RCV001554657]|not provided [RCV001729400]|not specified [RCV000124101] |
Chr12:2682039 [GRCh38] Chr12:2791205 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002316982]|Long QT syndrome [RCV001083986]|not provided [RCV000560728]|not specified [RCV001706105] |
Chr12:2581761 [GRCh38] Chr12:2690927 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) |
single nucleotide variant |
Timothy syndrome [RCV003224183]|not specified [RCV000170748] |
Chr12:2633683 [GRCh38] Chr12:2742849 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5444+623G>A |
single nucleotide variant |
not provided [RCV001812281] |
Chr12:2680419 [GRCh38] Chr12:2789585 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser) |
single nucleotide variant |
not provided [RCV000170820] |
Chr12:2115349 [GRCh38] Chr12:2224515 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) |
single nucleotide variant |
Long QT syndrome [RCV002517639]|not provided [RCV000723991] |
Chr12:2115416 [GRCh38] Chr12:2224582 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336395]|Long QT syndrome [RCV000705429]|not provided [RCV000170823] |
Chr12:2679496 [GRCh38] Chr12:2788662 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336396]|Long QT syndrome [RCV000694981]|Timothy syndrome [RCV002485067]|not provided [RCV000170824] |
Chr12:2679550 [GRCh38] Chr12:2788716 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345574]|Long QT syndrome [RCV000463099]|Timothy syndrome [RCV002492701]|not provided [RCV000170826] |
Chr12:2679690 [GRCh38] Chr12:2788856 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5573+5G>C |
single nucleotide variant |
not provided [RCV000170827] |
Chr12:2682683 [GRCh38] Chr12:2791849 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345575]|Long QT syndrome [RCV000691272]|not provided [RCV000170828] |
Chr12:2449036 [GRCh38] Chr12:2558202 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) |
microsatellite |
Cardiovascular phenotype [RCV002444685]|Long QT syndrome [RCV001370395]|not provided [RCV003313049] |
Chr12:2584589..2584591 [GRCh38] Chr12:2693755..2693757 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.2315_2317delAGA (p.Lys773del) |
deletion |
not provided [RCV000170831] |
Chr12:2584593..2584595 [GRCh38] Chr12:2693759..2693761 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg) |
deletion |
not provided [RCV000170832] |
Chr12:2677175..2677177 [GRCh38] Chr12:2786341..2786343 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) |
microsatellite |
Inborn genetic diseases [RCV002517640]|Long QT syndrome [RCV001214800]|Timothy syndrome [RCV002492702]|not provided [RCV000170833] |
Chr12:2677802..2677804 [GRCh38] Chr12:2786968..2786970 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) |
duplication |
Cardiovascular phenotype [RCV003165344]|Long QT syndrome [RCV000477263]|Timothy syndrome [RCV002485068]|not provided [RCV002223803]|not specified [RCV000454638] |
Chr12:2691106..2691107 [GRCh38] Chr12:2800272..2800273 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser) |
single nucleotide variant |
not provided [RCV000170835] |
Chr12:2504869 [GRCh38] Chr12:2614035 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) |
single nucleotide variant |
Long QT syndrome [RCV002517641]|not provided [RCV000170836] |
Chr12:2512849 [GRCh38] Chr12:2622015 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.1946G>A (p.Arg649His) |
single nucleotide variant |
Long QT syndrome [RCV001935099] |
Chr12:2581640 [GRCh38] Chr12:2690806 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.6(CACNA1C):c.2213T>G (p.Ile738Ser) |
single nucleotide variant |
not provided [RCV000170840] |
Chr12:2582931 [GRCh38] Chr12:2692097 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444686]|Long QT syndrome [RCV001337841]|not provided [RCV000170842] |
Chr12:2606994 [GRCh38] Chr12:2716160 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3701T>A (p.Ile1234Asn) |
single nucleotide variant |
not provided [RCV000170844] |
Chr12:2610683 [GRCh38] Chr12:2719849 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4101C>G (p.Ile1367Met) |
single nucleotide variant |
not provided [RCV003482043] |
Chr12:2653861 [GRCh38] Chr12:2763027 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399603]|Long QT syndrome [RCV000631577]|Pulmonic stenosis [RCV001281511] |
Chr12:2115250 [GRCh38] Chr12:2224416 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) |
single nucleotide variant |
Long QT syndrome [RCV000631675]|not provided [RCV000170847] |
Chr12:2677809 [GRCh38] Chr12:2786975 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) |
deletion |
CACNA1C-related condition [RCV003407633]|Cardiovascular phenotype [RCV003165346]|Long QT syndrome [RCV000814841]|Timothy syndrome [RCV002485069]|not provided [RCV001753579] |
Chr12:2053576..2053577 [GRCh38] Chr12:2162742..2162743 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro) |
single nucleotide variant |
not provided [RCV002287885] |
Chr12:2567596 [GRCh38] Chr12:2676762 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621118]|Long QT syndrome [RCV000471623]|not provided [RCV000170745] |
Chr12:2567682 [GRCh38] Chr12:2676848 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3946-66G>A |
single nucleotide variant |
not provided [RCV001711342] |
Chr12:2651574 [GRCh38] Chr12:2760740 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-12G>A |
single nucleotide variant |
Long QT syndrome [RCV002054021]|not provided [RCV000170751] |
Chr12:2651628 [GRCh38] Chr12:2760794 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617805]|Long QT syndrome [RCV000557600]|not provided [RCV001699138]|not specified [RCV000170755] |
Chr12:2679471 [GRCh38] Chr12:2788637 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345572]|Long QT syndrome [RCV001086159]|Timothy syndrome [RCV000763836]|not provided [RCV000170756] |
Chr12:2679472 [GRCh38] Chr12:2788638 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242415]|History of neurodevelopmental disorder [RCV000716297]|Long QT syndrome [RCV000547992]|not provided [RCV001721097]|not specified [RCV003398877] |
Chr12:2682583 [GRCh38] Chr12:2791749 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) |
single nucleotide variant |
CACNA1C-related condition [RCV003416060]|Cardiovascular phenotype [RCV002354417]|Long QT syndrome [RCV000631643]|Timothy syndrome [RCV002485063]|not specified [RCV001420870] |
Chr12:2688547 [GRCh38] Chr12:2797713 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362706]|Long QT syndrome [RCV001050965]|not specified [RCV000170761] |
Chr12:2688591 [GRCh38] Chr12:2797757 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) |
single nucleotide variant |
Brugada syndrome [RCV000622425]|Cardiovascular phenotype [RCV002354418]|Long QT syndrome [RCV000475281]|Timothy syndrome [RCV002478532]|not provided [RCV001812147] |
Chr12:2688637 [GRCh38] Chr12:2797803 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354419]|Long QT syndrome [RCV002515226]|not provided [RCV003389757]|not specified [RCV000170763] |
Chr12:2688712 [GRCh38] Chr12:2797878 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.6(CACNA1C):c.535A>G (p.Ile179Val) |
single nucleotide variant |
not provided [RCV000170765] |
Chr12:2449033 [GRCh38] Chr12:2558199 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247705]|History of neurodevelopmental disorder [RCV000717413]|Long QT syndrome [RCV001082904]|Timothy syndrome [RCV003224184]|not provided [RCV000170766]|not specified [RCV000212338] |
Chr12:2486257 [GRCh38] Chr12:2595423 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381542]|Long QT syndrome [RCV002517636]|Sudden cardiac death [RCV000208285]|Timothy syndrome [RCV002485064]|not provided [RCV000170767] |
Chr12:2493258 [GRCh38] Chr12:2602424 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) |
single nucleotide variant |
Long QT syndrome [RCV001385670]|Timothy syndrome [RCV000192272]|Timothy syndrome [RCV002498853]|not provided [RCV000170769] |
Chr12:2504538 [GRCh38] Chr12:2613704 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|not provided |
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) |
single nucleotide variant |
Timothy syndrome [RCV000208468]|not provided [RCV000170770] |
Chr12:2504538 [GRCh38] Chr12:2613704 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298199]|Long QT syndrome [RCV000553290]|not provided [RCV000170772] |
Chr12:2512936 [GRCh38] Chr12:2622102 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390405]|Long QT syndrome [RCV000631680]|Wolff-Parkinson-White pattern [RCV000656158]|not provided [RCV000170777] |
Chr12:2556954 [GRCh38] Chr12:2666120 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618842]|Long QT syndrome [RCV000706039]|Timothy syndrome [RCV002485065]|not provided [RCV003144147]|not specified [RCV000170778] |
Chr12:2556956 [GRCh38] Chr12:2666122 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) |
single nucleotide variant |
Long QT syndrome [RCV000631598]|not provided [RCV000170779] |
Chr12:2566445 [GRCh38] Chr12:2675611 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399602]|Long QT syndrome [RCV000232889]|Long qt syndrome 8 [RCV002250585]|Timothy syndrome [RCV002287377]|not provided [RCV000170780] |
Chr12:2566465 [GRCh38] Chr12:2675631 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp) |
single nucleotide variant |
not provided [RCV000170785] |
Chr12:2581625 [GRCh38] Chr12:2690791 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg) |
single nucleotide variant |
not provided [RCV000170786] |
Chr12:2582831 [GRCh38] Chr12:2691997 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453576]|Long QT syndrome [RCV000701597]|not provided [RCV000170787] |
Chr12:2584605 [GRCh38] Chr12:2693771 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val) |
single nucleotide variant |
not provided [RCV000170788] |
Chr12:2585841 [GRCh38] Chr12:2695007 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426810]|Long QT syndrome [RCV000462694]|not provided [RCV000170790] |
Chr12:2593248 [GRCh38] Chr12:2702414 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453577]|Long QT syndrome [RCV000550877]|Long qt syndrome 8 [RCV000782180]|not provided [RCV001509415] |
Chr12:2593255 [GRCh38] Chr12:2702421 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453578]|Long QT syndrome [RCV001057570]|Timothy syndrome [RCV000853602]|Wolff-Parkinson-White pattern [RCV000656216]|not provided [RCV001704240] |
Chr12:2593261 [GRCh38] Chr12:2702427 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.2581C>T (p.Pro861Ser) |
single nucleotide variant |
not provided [RCV000170793] |
Chr12:2593263 [GRCh38] Chr12:2702429 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) |
single nucleotide variant |
Autism spectrum disorder [RCV003126565]|Long QT syndrome [RCV000465144]|not provided [RCV000170794] |
Chr12:2595894 [GRCh38] Chr12:2705060 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618294]|Long QT syndrome [RCV001852043]|not provided [RCV000170795] |
Chr12:2597231 [GRCh38] Chr12:2706397 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val) |
single nucleotide variant |
not provided [RCV000170796] |
Chr12:2597263 [GRCh38] Chr12:2706429 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val) |
single nucleotide variant |
not provided [RCV000170798] |
Chr12:2608615 [GRCh38] Chr12:2717781 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362707]|not provided [RCV000170799] |
Chr12:2610613 [GRCh38] Chr12:2719779 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_001167623.2(CACNA1C):c.3871G>A (p.Val1291Ile) |
single nucleotide variant |
not provided [RCV000170800] |
Chr12:2633671 [GRCh38] Chr12:2742837 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.3912+1G>A |
single nucleotide variant |
not provided [RCV000170801] |
Chr12:2633713 [GRCh38] Chr12:2742879 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002316983]|Long QT syndrome [RCV001085234]|not provided [RCV000170802] |
Chr12:2634330 [GRCh38] Chr12:2743496 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) |
single nucleotide variant |
not provided [RCV000170804] |
Chr12:2648492 [GRCh38] Chr12:2757658 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-45C>G |
single nucleotide variant |
not provided [RCV000170805]|not specified [RCV001699215] |
Chr12:2651595 [GRCh38] Chr12:2760761 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.6(CACNA1C):c.4660G>A (p.Gly1554Arg) |
single nucleotide variant |
not provided [RCV000170809] |
Chr12:2668969 [GRCh38] Chr12:2778135 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336393]|Long QT syndrome [RCV000798404]|Timothy syndrome [RCV002498855]|not provided [RCV000170811] |
Chr12:2674587 [GRCh38] Chr12:2783753 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser) |
single nucleotide variant |
Long QT syndrome [RCV001852044]|not provided [RCV000170812] |
Chr12:2677192 [GRCh38] Chr12:2786358 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) |
single nucleotide variant |
CACNA1C-related condition [RCV003416061]|Cardiovascular phenotype [RCV002336394]|Long QT syndrome [RCV000631689]|Timothy syndrome [RCV000853597]|not provided [RCV000170815] |
Chr12:2677841 [GRCh38] Chr12:2787007 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp) |
single nucleotide variant |
Long QT syndrome [RCV000229376]|not provided [RCV000170816] |
Chr12:2115265 [GRCh38] Chr12:2224431 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381543]|Long QT syndrome [RCV001036246]|Timothy syndrome [RCV000765083]|not provided [RCV000170817] |
Chr12:2115272 [GRCh38] Chr12:2224438 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298200]|Long QT syndrome [RCV002515227]|not provided [RCV000170818] |
Chr12:2115275 [GRCh38] Chr12:2224441 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.154T>C (p.Trp52Arg) |
single nucleotide variant |
not specified [RCV000170819] |
Chr12:2115328 [GRCh38] Chr12:2224494 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.450T>C (p.Asp150=) |
single nucleotide variant |
Long QT syndrome [RCV001494506] |
Chr12:2120403 [GRCh38] Chr12:2229569 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+18C>T |
single nucleotide variant |
Long QT syndrome [RCV002054020]|Timothy syndrome [RCV002498852]|not specified [RCV000170747] |
Chr12:2584635 [GRCh38] Chr12:2693801 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372063]|Long QT syndrome [RCV000548497]|not provided [RCV001704238] |
Chr12:2648505 [GRCh38] Chr12:2757671 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4727-9G>A |
single nucleotide variant |
Brugada syndrome [RCV000370158]|Long QT syndrome [RCV000631792]|Timothy syndrome [RCV000315543]|not provided [RCV001704239] |
Chr12:2674532 [GRCh38] Chr12:2783698 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.50-18T>C |
single nucleotide variant |
Long QT syndrome [RCV002515225]|not specified [RCV000170753] |
Chr12:2115206 [GRCh38] Chr12:2224372 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp) |
single nucleotide variant |
Long QT syndrome [RCV000706157]|not specified [RCV000170754] |
Chr12:2115224 [GRCh38] Chr12:2224390 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) |
single nucleotide variant |
Long QT syndrome [RCV001302453]|not provided [RCV000170773] |
Chr12:2512960 [GRCh38] Chr12:2622126 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390404]|Long QT syndrome [RCV001325303]|not provided [RCV000505746] |
Chr12:2550005 [GRCh38] Chr12:2659171 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) |
single nucleotide variant |
Long QT syndrome [RCV001309826]|not provided [RCV000170776] |
Chr12:2550033 [GRCh38] Chr12:2659199 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr) |
single nucleotide variant |
Long QT syndrome [RCV000554639]|not provided [RCV000170781] |
Chr12:2567592 [GRCh38] Chr12:2676758 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) |
single nucleotide variant |
Long QT syndrome [RCV002517637]|Timothy syndrome [RCV002478533]|not provided [RCV000170782] |
Chr12:2567602 [GRCh38] Chr12:2676768 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408737]|Long QT syndrome [RCV000530243]|not provided [RCV000170783] |
Chr12:2567722 [GRCh38] Chr12:2676888 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619791]|Long QT syndrome [RCV000805998]|not provided [RCV000170784] |
Chr12:2567763 [GRCh38] Chr12:2676929 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426809]|Long QT syndrome [RCV001852042]|not provided [RCV000766674]|not specified [RCV000170789] |
Chr12:2585891 [GRCh38] Chr12:2695057 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619014]|Long QT syndrome [RCV000631563]|not provided [RCV000170797]|not specified [RCV001192664] |
Chr12:2608578 [GRCh38] Chr12:2717744 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) |
single nucleotide variant |
Long QT syndrome [RCV002516549]|not provided [RCV000170803] |
Chr12:2634342 [GRCh38] Chr12:2743508 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-44C>T |
single nucleotide variant |
Timothy syndrome [RCV002498854]|not provided [RCV000170806] |
Chr12:2651596 [GRCh38] Chr12:2760762 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) |
single nucleotide variant |
not provided [RCV000170807] |
Chr12:2651734 [GRCh38] Chr12:2760900 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val) |
single nucleotide variant |
CACNA1C-related condition [RCV001255604] |
Chr12:2653838 [GRCh38] Chr12:2763004 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met) |
single nucleotide variant |
Long QT syndrome [RCV002517638]|not provided [RCV000170810] |
Chr12:2655222 [GRCh38] Chr12:2764388 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362868]|Long QT syndrome [RCV000473429]|not provided [RCV000170813] |
Chr12:2115244 [GRCh38] Chr12:2224410 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345573]|Long QT syndrome [RCV001367040]|Timothy syndrome [RCV002492700]|not provided [RCV000170814]|not specified [RCV002265657] |
Chr12:2677760 [GRCh38] Chr12:2786926 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453579]|Long QT syndrome [RCV000631657]|Timothy syndrome [RCV002485066]|not provided [RCV000170821] |
Chr12:2115410 [GRCh38] Chr12:2224576 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys) |
single nucleotide variant |
Long QT syndrome [RCV000810281]|not provided [RCV000170825] |
Chr12:2115431 [GRCh38] Chr12:2224597 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) |
single nucleotide variant |
Long qt syndrome 8 [RCV003147376]|not provided [RCV000170837] |
Chr12:2549972 [GRCh38] Chr12:2659138 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) |
single nucleotide variant |
Brugada syndrome [RCV000346531]|Cardiovascular phenotype [RCV000618192]|Long QT syndrome [RCV001084353]|Timothy syndrome [RCV000289278]|not provided [RCV000170838] |
Chr12:2556955 [GRCh38] Chr12:2666121 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) |
single nucleotide variant |
not provided [RCV000170841] |
Chr12:2593260 [GRCh38] Chr12:2702426 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic |
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321682]|Long QT syndrome [RCV000687893]|not provided [RCV000170843] |
Chr12:2607069 [GRCh38] Chr12:2716235 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) |
single nucleotide variant |
Brugada syndrome [RCV000262517]|Cardiovascular phenotype [RCV002415722]|Long QT syndrome [RCV000794589]|Timothy syndrome [RCV000357698]|not provided [RCV000761812]|not specified [RCV000781192] |
Chr12:2115376 [GRCh38] Chr12:2224542 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165345]|Long QT syndrome [RCV000528382]|Timothy syndrome [RCV002478534]|not provided [RCV000170850] |
Chr12:2053564 [GRCh38] Chr12:2162730 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165352]|Long QT syndrome [RCV001320102]|not provided [RCV000171204] |
Chr12:2115343 [GRCh38] Chr12:2224509 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) |
single nucleotide variant |
Timothy syndrome [RCV000177862]|not provided [RCV000724782] |
Chr12:2665600 [GRCh38] Chr12:2774766 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000190696]|Timothy syndrome [RCV001795308] |
Chr12:2608651 [GRCh38] Chr12:2717817 [GRCh37] Chr12:12p13.33 |
pathogenic|not provided |
NM_000719.7(CACNA1C):c.3912+1G>A |
single nucleotide variant |
not provided [RCV001813836] |
Chr12:2634381 [GRCh38] Chr12:2743547 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.2417T>C (p.Leu806Pro) |
single nucleotide variant |
Long QT syndrome [RCV001348123] |
Chr12:2585453 [GRCh38] Chr12:2694619 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) |
single nucleotide variant |
Long QT syndrome [RCV000805941]|Long qt syndrome 8 [RCV003333028]|Ventricular fibrillation, paroxysmal familial, type 1 [RCV000143870]|not provided [RCV000170768] |
Chr12:2504526 [GRCh38] Chr12:2613692 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic |
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) |
microsatellite |
Cardiovascular phenotype [RCV002312957]|Long QT syndrome [RCV000143871]|Timothy syndrome [RCV000988768]|not provided [RCV000724620] |
Chr12:2593224..2593226 [GRCh38] Chr12:2702396..2702398 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.410A>G (p.Asn137Ser) |
single nucleotide variant |
Long QT syndrome [RCV001348453] |
Chr12:2120363 [GRCh38] Chr12:2229529 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3405C>G (p.Ile1135Met) |
single nucleotide variant |
Long QT syndrome [RCV001302465] |
Chr12:2608559 [GRCh38] Chr12:2717725 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) |
single nucleotide variant |
Long QT syndrome [RCV001405463]|Timothy syndrome [RCV001331363] |
Chr12:2581611 [GRCh38] Chr12:2690777 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) |
single nucleotide variant |
Long QT syndrome [RCV002517653]|not provided [RCV000171611] |
Chr12:2493304 [GRCh38] Chr12:2602470 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile) |
single nucleotide variant |
not provided [RCV000171612] |
Chr12:2504487 [GRCh38] Chr12:2613653 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1481+621C>T |
single nucleotide variant |
not provided [RCV000171613] |
Chr12:2550654 [GRCh38] Chr12:2659820 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-51C>T |
single nucleotide variant |
CACNA1C-related condition [RCV003398881]|Inborn genetic diseases [RCV002517654]|not provided [RCV000171615] |
Chr12:2651589 [GRCh38] Chr12:2760755 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165353]|Long QT syndrome [RCV001087277]|not provided [RCV000171616] |
Chr12:2679681 [GRCh38] Chr12:2788847 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345580]|Long QT syndrome [RCV001520593]|not provided [RCV000171617] |
Chr12:2679760 [GRCh38] Chr12:2788926 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5444+599C>A |
single nucleotide variant |
not provided [RCV000171618] |
Chr12:2680395 [GRCh38] Chr12:2789561 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) |
single nucleotide variant |
Cardiomyopathy [RCV000852446]|Cardiovascular phenotype [RCV000617712]|Long QT syndrome [RCV000226828]|Timothy syndrome [RCV000988770]|Timothy syndrome [RCV002478546]|not provided [RCV000171619]|not specified [RCV000855639] |
Chr12:2686216 [GRCh38] Chr12:2795382 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617997]|Long QT syndrome [RCV001084323]|not provided [RCV000171620] |
Chr12:2691126 [GRCh38] Chr12:2800292 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1391-2484C>T |
single nucleotide variant |
not specified [RCV000171799] |
Chr12:2547459 [GRCh38] Chr12:2656625 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) |
single nucleotide variant |
not provided [RCV000171614] |
Chr12:2595944 [GRCh38] Chr12:2705110 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399627]|Long QT syndrome [RCV001087382]|not provided [RCV000174495]|not specified [RCV003235094] |
Chr12:2567606 [GRCh38] Chr12:2676772 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) |
single nucleotide variant |
Long QT syndrome [RCV001417895]|not provided [RCV000174690] |
Chr12:2581767 [GRCh38] Chr12:2690933 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) |
single nucleotide variant |
Long QT syndrome [RCV001304997]|Timothy syndrome [RCV002478563]|not provided [RCV000174691] |
Chr12:2581762 [GRCh38] Chr12:2690928 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619811]|History of neurodevelopmental disorder [RCV000716181]|Long QT syndrome [RCV000755887]|not provided [RCV001675651]|not specified [RCV000171800] |
Chr12:2679735 [GRCh38] Chr12:2788901 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) |
single nucleotide variant |
Brugada syndrome [RCV000211440]|Cardiovascular phenotype [RCV000617504]|History of neurodevelopmental disorder [RCV000716928]|Hypertrophic cardiomyopathy [RCV000852665]|Long QT syndrome [RCV000631698]|not provided [RCV003333962]|not specified [RCV000171801] |
Chr12:2685755 [GRCh38] Chr12:2794921 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619639]|History of neurodevelopmental disorder [RCV000715870]|Long QT syndrome [RCV001083389]|not provided [RCV000587387]|not specified [RCV000171802] |
Chr12:2685771 [GRCh38] Chr12:2794937 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 |
copy number gain |
See cases [RCV000135350] |
Chr12:45740..6945196 [GRCh38] Chr12:147099..7054359 [GRCh37] Chr12:17360..6924620 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3 |
copy number gain |
See cases [RCV000135390] |
Chr12:1678885..2546760 [GRCh38] Chr12:1788051..2655926 [GRCh37] Chr12:1658312..2526187 [NCBI36] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val) |
single nucleotide variant |
not provided [RCV000175019] |
Chr12:2584529 [GRCh38] Chr12:2693695 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh38/hg38 12p13.33(chr12:54452-2558097)x1 |
copy number loss |
See cases [RCV000136313] |
Chr12:54452..2558097 [GRCh38] Chr12:282465..2667263 [GRCh37] Chr12:33879..2537524 [NCBI36] Chr12:12p13.33 |
pathogenic |
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 |
copy number loss |
See cases [RCV000136848] |
Chr12:199896..5807366 [GRCh38] Chr12:309062..5916532 [GRCh37] Chr12:179323..5786793 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 |
copy number gain |
See cases [RCV000136611] |
Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33(chr12:80412-2850599)x1 |
copy number loss |
See cases [RCV000137693] |
Chr12:80412..2850599 [GRCh38] Chr12:282465..2959765 [GRCh37] Chr12:59839..2830026 [NCBI36] Chr12:12p13.33 |
pathogenic|uncertain significance |
GRCh38/hg38 12p13.33(chr12:2543999-2698761)x3 |
copy number gain |
See cases [RCV000137843] |
Chr12:2543999..2698761 [GRCh38] Chr12:2653165..2807927 [GRCh37] Chr12:2523426..2678188 [NCBI36] Chr12:12p13.33 |
uncertain significance |
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 |
copy number loss |
See cases [RCV000138558] |
Chr12:80412..4420585 [GRCh38] Chr12:282465..4529751 [GRCh37] Chr12:59839..4400012 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33(chr12:2688223-2726383)x3 |
copy number gain |
See cases [RCV000139196] |
Chr12:2688223..2726383 [GRCh38] Chr12:2797389..2835549 [GRCh37] Chr12:2667650..2705810 [NCBI36] Chr12:12p13.33 |
uncertain significance |
GRCh38/hg38 12p13.33(chr12:2688223-2726383)x1 |
copy number loss |
See cases [RCV000139197] |
Chr12:2688223..2726383 [GRCh38] Chr12:2797389..2835549 [GRCh37] Chr12:2667650..2705810 [NCBI36] Chr12:12p13.33 |
uncertain significance |
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 |
copy number gain |
See cases [RCV000139052] |
Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 |
copy number gain |
See cases [RCV000139787] |
Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 |
copy number loss |
See cases [RCV000141250] |
Chr12:54427..3639603 [GRCh38] Chr12:282465..3748769 [GRCh37] Chr12:33854..3619030 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 |
copy number loss |
See cases [RCV000140991] |
Chr12:54427..4004912 [GRCh38] Chr12:282465..4114078 [GRCh37] Chr12:33854..3984339 [NCBI36] Chr12:12p13.33-13.32 |
pathogenic |
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 |
copy number gain |
See cases [RCV000141905] |
Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2 |
pathogenic |
GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3 |
copy number gain |
See cases [RCV000141599] |
Chr12:2619985..3489688 [GRCh38] Chr12:2729151..3598854 [GRCh37] Chr12:2599412..3469115 [NCBI36] Chr12:12p13.33-13.32 |
uncertain significance |
GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3 |
copy number gain |
See cases [RCV000141614] |
Chr12:2188620..3361190 [GRCh38] Chr12:2297786..3470356 [GRCh37] Chr12:2168047..3340617 [NCBI36] Chr12:12p13.33-13.32 |
uncertain significance |
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 |
copy number gain |
See cases [RCV000142149] |
Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 |
copy number loss |
See cases [RCV000142595] |
Chr12:121255..3003320 [GRCh38] Chr12:282465..3112486 [GRCh37] Chr12:100682..2982747 [NCBI36] Chr12:12p13.33 |
pathogenic |
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 |
copy number gain |
See cases [RCV000143357] |
Chr12:418421..6235914 [GRCh38] Chr12:527587..6345080 [GRCh37] Chr12:397848..6215341 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.50-3C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003165365]|Long QT syndrome [RCV001050617]|See cases [RCV002252018]|not provided [RCV000175641] |
Chr12:2115221 [GRCh38] Chr12:2224387 [GRCh37] Chr12:12p13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000244258]|History of neurodevelopmental disorder [RCV000718424]|Long QT syndrome [RCV000233581]|not provided [RCV001651023]|not specified [RCV000152898] |
Chr12:2504904 [GRCh38] Chr12:2614070 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1218-6C>T |
single nucleotide variant |
Long QT syndrome [RCV002514943]|not provided [RCV000152899] |
Chr12:2512806 [GRCh38] Chr12:2621972 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3049-10C>T |
single nucleotide variant |
Congestive heart failure [RCV000852663]|Long QT syndrome [RCV001081172]|not provided [RCV000587094]|not specified [RCV001706014] |
Chr12:2605669 [GRCh38] Chr12:2714835 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val) |
single nucleotide variant |
not provided [RCV000152901] |
Chr12:2608527 [GRCh38] Chr12:2717693 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336309]|Long QT syndrome [RCV001036828]|Timothy syndrome [RCV002478443]|not provided [RCV000152902] |
Chr12:2610542 [GRCh38] Chr12:2719708 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4140+4G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000617283]|Long QT syndrome [RCV000631662]|not provided [RCV000152903] |
Chr12:2653904 [GRCh38] Chr12:2763070 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298161]|Long QT syndrome [RCV000468006]|not provided [RCV000723807] |
Chr12:2664914 [GRCh38] Chr12:2774080 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) |
single nucleotide variant |
Long QT syndrome [RCV001089113]|not provided [RCV000152905] |
Chr12:2679458 [GRCh38] Chr12:2788624 [GRCh37] Chr12:12p13.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619374]|History of neurodevelopmental disorder [RCV000716945]|Long QT syndrome [RCV001084304]|not provided [RCV000176043] |
Chr12:2595976 [GRCh38] Chr12:2705142 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) |
single nucleotide variant |
Long QT syndrome [RCV000157123]|Timothy syndrome [RCV000678964]|not provided [RCV000588534] |
Chr12:2593261 [GRCh38] Chr12:2702427 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) |
single nucleotide variant |
Long QT syndrome [RCV000157125] |
Chr12:2679796 [GRCh38] Chr12:2788962 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345528]|Long QT syndrome [RCV001218818]|Ventricular tachycardia [RCV000157126] |
Chr12:2685761 [GRCh38] Chr12:2794927 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.477+16040_477+23328del |
deletion |
Gestational diabetes mellitus uncontrolled [RCV000161661]|Large for gestational age [RCV000161659]|Normal pregnancy [RCV000161658]|Preeclampsia [RCV000161660] |
Chr12:2136470..2143758 [GRCh38] Chr12:2245636..2252924 [GRCh37] Chr12:12p13.33 |
not provided |
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336438]|Long QT syndrome [RCV000468918]|Timothy syndrome [RCV000522719]|not provided [RCV000724254]|not specified [RCV000178426] |
Chr12:2677207 [GRCh38] Chr12:2786373 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5091+8G>A |
single nucleotide variant |
Long QT syndrome [RCV001487523]|not provided [RCV000178454] |
Chr12:2677875 [GRCh38] Chr12:2787041 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) |
single nucleotide variant |
Long QT syndrome [RCV001206136]|not provided [RCV000178484] |
Chr12:2679554 [GRCh38] Chr12:2788720 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345622]|Long QT syndrome [RCV001085668]|not provided [RCV000178485] |
Chr12:2679659 [GRCh38] Chr12:2788825 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345623]|Long QT syndrome [RCV000525777]|not provided [RCV000724244] |
Chr12:2685806 [GRCh38] Chr12:2794972 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354460]|Long QT syndrome [RCV001084032]|not provided [RCV000178564] |
Chr12:2686257 [GRCh38] Chr12:2795423 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) |
single nucleotide variant |
Long QT syndrome [RCV001082015]|not provided [RCV000178565] |
Chr12:2686191 [GRCh38] Chr12:2795357 [GRCh37] Chr12:12p13.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354461]|Catecholaminergic polymorphic ventricular tachycardia [RCV000852447]|Long QT syndrome [RCV000232834]|Long qt syndrome 8 [RCV002272160]|not provided [RCV000178594] |
Chr12:2688778 [GRCh38] Chr12:2797944 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) |
single nucleotide variant |
CACNA1C-related condition [RCV003422074]|Cardiovascular phenotype [RCV000619563]|Long QT syndrome [RCV000801058]|Timothy syndrome [RCV002485171]|not provided [RCV000178619] |
Chr12:2690943 [GRCh38] Chr12:2800109 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622045]|Long QT syndrome [RCV001421487]|not provided [RCV000178795] |
Chr12:2457615 [GRCh38] Chr12:2566781 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1113+4C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002433780]|Long QT syndrome [RCV000795844]|not provided [RCV000179784] |
Chr12:2493390 [GRCh38] Chr12:2602556 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV001266177]|Long QT syndrome [RCV001852251]|not provided [RCV000180526] |
Chr12:2512979 [GRCh38] Chr12:2622145 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000250335]|History of neurodevelopmental disorder [RCV000717524]|Long QT syndrome [RCV001082496]|Timothy syndrome [RCV003224191]|not provided [RCV000176619]|not specified [RCV001358770] |
Chr12:2607008 [GRCh38] Chr12:2716174 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002314638]|Long QT syndrome [RCV001085297]|not provided [RCV000177898]|not specified [RCV001729429] |
Chr12:2666770 [GRCh38] Chr12:2775936 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4624-8G>A |
single nucleotide variant |
Long QT syndrome [RCV001089322]|not provided [RCV000724509]|not specified [RCV000177932] |
Chr12:2668925 [GRCh38] Chr12:2778091 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4727-10C>T |
single nucleotide variant |
Long QT syndrome [RCV000631872]|not provided [RCV000177972] |
Chr12:2674531 [GRCh38] Chr12:2783697 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336435]|Long QT syndrome [RCV001374282]|not provided [RCV000177973] |
Chr12:2674574 [GRCh38] Chr12:2783740 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5034G>A (p.Glu1678=) |
single nucleotide variant |
Long QT syndrome [RCV001427351] |
Chr12:2677810 [GRCh38] Chr12:2786976 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly) |
single nucleotide variant |
Long QT syndrome [RCV000196550]|not provided [RCV003390941] |
Chr12:2512978 [GRCh38] Chr12:2622144 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165470]|Long QT syndrome [RCV000198405]|not provided [RCV003390942] |
Chr12:2115327 [GRCh38] Chr12:2224493 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617242]|Long QT syndrome [RCV000198546]|not provided [RCV001722107] |
Chr12:2679501 [GRCh38] Chr12:2788667 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) |
single nucleotide variant |
Cardiac arrhythmia [RCV001842950]|Cardiovascular phenotype [RCV000617693]|History of neurodevelopmental disorder [RCV000717339]|Long QT syndrome [RCV001084051]|Timothy syndrome [RCV000519629]|not provided [RCV000357942] |
Chr12:2691054 [GRCh38] Chr12:2800220 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5895C>T (p.Pro1965=) |
single nucleotide variant |
Long QT syndrome [RCV001490463] |
Chr12:2688557 [GRCh38] Chr12:2797723 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 |
copy number gain |
See cases [RCV000240164] |
Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450819]|Long QT syndrome [RCV001085791]|not provided [RCV000377275] |
Chr12:2585427 [GRCh38] Chr12:2694593 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345730]|Long QT syndrome [RCV000205645] |
Chr12:2679760 [GRCh38] Chr12:2788926 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252905]|History of neurodevelopmental disorder [RCV000715597]|Long QT syndrome [RCV000203826]|not provided [RCV001689734]|not specified [RCV001193294] |
Chr12:2605744 [GRCh38] Chr12:2714910 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345729]|Long QT syndrome [RCV000204148]|not provided [RCV003390950] |
Chr12:2679569 [GRCh38] Chr12:2788735 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) |
single nucleotide variant |
Long QT syndrome [RCV000208178]|Long qt syndrome 8 [RCV000782178] |
Chr12:2593252 [GRCh38] Chr12:2702418 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met) |
single nucleotide variant |
Long QT syndrome [RCV000208304] |
Chr12:2682639 [GRCh38] Chr12:2791805 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) |
single nucleotide variant |
Sudden cardiac death [RCV000208488] |
Chr12:2685788 [GRCh38] Chr12:2794954 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336575]|Ductal breast carcinoma [RCV000207315]|Long QT syndrome [RCV002515534] |
Chr12:2679495 [GRCh38] Chr12:2788661 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621209]|Long QT syndrome [RCV000229663]|Timothy syndrome [RCV002500766]|not specified [RCV000433169] |
Chr12:2493347 [GRCh38] Chr12:2602513 [GRCh37] Chr12:12p13.33 |
likely pathogenic|benign|likely benign |
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243680]|History of neurodevelopmental disorder [RCV000716456]|Long QT syndrome [RCV001082865]|not provided [RCV000590077] |
Chr12:2115387 [GRCh38] Chr12:2224553 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622138]|Long QT syndrome [RCV000228037]|not provided [RCV001536317] |
Chr12:2679743 [GRCh38] Chr12:2788909 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617424]|Long QT syndrome [RCV000228686]|not provided [RCV001610536]|not specified [RCV001699255] |
Chr12:2679566 [GRCh38] Chr12:2788732 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618584]|Long QT syndrome [RCV000463570]|Short QT Syndrome 4 [RCV000415626]|Timothy syndrome [RCV000656705]|Timothy syndrome [RCV002478822]|not provided [RCV000725545]|not specified [RCV000223923] |
Chr12:2610661 [GRCh38] Chr12:2719827 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6111G>A (p.Val2037=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354646]|Long QT syndrome [RCV000230045] |
Chr12:2688773 [GRCh38] Chr12:2797939 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619708]|Long QT syndrome [RCV000232392]|Long qt syndrome 8 [RCV003389323]|Timothy syndrome [RCV002503893] |
Chr12:2688658 [GRCh38] Chr12:2797824 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2382G>A (p.Pro794=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450676]|Long QT syndrome [RCV000230548] |
Chr12:2585418 [GRCh38] Chr12:2694584 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3347G>C (p.Gly1116Ala) |
single nucleotide variant |
Long QT syndrome [RCV000228240] |
Chr12:2607121 [GRCh38] Chr12:2716287 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354645]|Long QT syndrome [RCV001413434]|not provided [RCV000388329] |
Chr12:2688752 [GRCh38] Chr12:2797918 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 12p13.33(chr12:1555573-2655985)x3 |
copy number gain |
See cases [RCV000240005] |
Chr12:1555573..2655985 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2664-6G>A |
single nucleotide variant |
Long QT syndrome [RCV000526875] |
Chr12:2595868 [GRCh38] Chr12:2705034 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621335]|Long QT syndrome [RCV000706551] |
Chr12:2685762 [GRCh38] Chr12:2794928 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4242C>T (p.Thr1414=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622200]|Long QT syndrome [RCV002066946] |
Chr12:2664834 [GRCh38] Chr12:2774000 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000584827] |
Chr12:2566495 [GRCh38] Chr12:2675661 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 |
copy number loss |
See cases [RCV000239873] |
Chr12:222888..3931052 [GRCh37] Chr12:12p13.33-13.32 |
pathogenic |
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620862]|History of neurodevelopmental disorder [RCV000717959]|Long QT syndrome [RCV001213243]|not provided [RCV002261133] |
Chr12:2651643 [GRCh38] Chr12:2760809 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246083] |
Chr12:2664985 [GRCh38] Chr12:2774151 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6213A>T (p.Ile2071=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248434]|Long QT syndrome [RCV001523231] |
Chr12:2690995 [GRCh38] Chr12:2800161 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) |
single nucleotide variant |
Brugada syndrome [RCV000311551]|Cardiovascular phenotype [RCV000253383]|Long QT syndrome [RCV000864490]|Timothy syndrome [RCV000275587]|not provided [RCV001705399] |
Chr12:2674575 [GRCh38] Chr12:2783741 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5865A>C (p.Pro1955=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253658] |
Chr12:2688527 [GRCh38] Chr12:2797693 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5898A>C (p.Pro1966=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253784] |
Chr12:2688560 [GRCh38] Chr12:2797726 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248947]|History of neurodevelopmental disorder [RCV000718466]|Long QT syndrome [RCV000866145]|not specified [RCV001194038] |
Chr12:2686232 [GRCh38] Chr12:2795398 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251364]|Long QT syndrome [RCV000467797]|not provided [RCV001812756]|not specified [RCV002307472] |
Chr12:2549971 [GRCh38] Chr12:2659137 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2988C>T (p.Ile996=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251401] |
Chr12:2605108 [GRCh38] Chr12:2714274 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1217+11C>T |
single nucleotide variant |
not specified [RCV000253804] |
Chr12:2504956 [GRCh38] Chr12:2614122 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246740]|Long QT syndrome [RCV001364253] |
Chr12:2634372 [GRCh38] Chr12:2743538 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5499G>A (p.Gln1833=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247244] |
Chr12:2682604 [GRCh38] Chr12:2791770 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249618] |
Chr12:2688535 [GRCh38] Chr12:2797701 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1125C>T (p.Ala375=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438300]|Long QT syndrome [RCV000528646] |
Chr12:2504853 [GRCh38] Chr12:2614019 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347952]|Long QT syndrome [RCV001078611]|not provided [RCV000726270]|not specified [RCV000245282] |
Chr12:2611932 [GRCh38] Chr12:2721098 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 |
copy number gain |
See cases [RCV000240487] |
Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000245532]|Long QT syndrome [RCV001063656]|not provided [RCV002461052] |
Chr12:2115281 [GRCh38] Chr12:2224447 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000245759]|Long QT syndrome [RCV001854973] |
Chr12:2688669 [GRCh38] Chr12:2797835 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248176]|Long QT syndrome [RCV001084888]|not provided [RCV000379802] |
Chr12:2457673 [GRCh38] Chr12:2566839 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248178]|Long QT syndrome [RCV001326287] |
Chr12:2549972 [GRCh38] Chr12:2659138 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2427C>T (p.Ile809=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243333]|Long QT syndrome [RCV001495836] |
Chr12:2585463 [GRCh38] Chr12:2694629 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) |
single nucleotide variant |
Brugada syndrome [RCV000509530]|Cardiovascular phenotype [RCV000245929]|Long QT syndrome [RCV001235473] |
Chr12:2115421 [GRCh38] Chr12:2224587 [GRCh37] Chr12:12p13.33 |
uncertain significance|not provided |
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000245971]|Long QT syndrome [RCV001087981]|not provided [RCV003165700] |
Chr12:2120412 [GRCh38] Chr12:2229578 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1290A>G (p.Leu430=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248318] |
Chr12:2512884 [GRCh38] Chr12:2622050 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3736C>T (p.Leu1246=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253244] |
Chr12:2611921 [GRCh38] Chr12:2721087 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4075-4C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000253253]|Long QT syndrome [RCV001422387]|not provided [RCV000471974] |
Chr12:2653831 [GRCh38] Chr12:2762997 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*1911A>C |
single nucleotide variant |
Brugada syndrome [RCV000373812]|Timothy syndrome [RCV000281728] |
Chr12:2693110 [GRCh38] Chr12:2802276 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4152A>G (p.Lys1384=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002333252] |
Chr12:2655158 [GRCh38] Chr12:2764324 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*4176G>T |
single nucleotide variant |
Brugada syndrome [RCV000356269]|Timothy syndrome [RCV000265725] |
Chr12:2695375 [GRCh38] Chr12:2804541 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His) |
single nucleotide variant |
Brugada syndrome 3 [RCV002466485]|Long QT syndrome [RCV000631549] |
Chr12:2566433 [GRCh38] Chr12:2675599 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4598A>G |
single nucleotide variant |
Brugada syndrome [RCV000405021]|Timothy syndrome [RCV000301941] |
Chr12:2695797 [GRCh38] Chr12:2804963 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374526]|Long QT syndrome [RCV000631857]|not provided [RCV001707643] |
Chr12:2486252 [GRCh38] Chr12:2595418 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4726+13G>A |
single nucleotide variant |
Long QT syndrome [RCV002056288]|not specified [RCV000616420] |
Chr12:2669048 [GRCh38] Chr12:2778214 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*2288G>A |
single nucleotide variant |
Brugada syndrome [RCV000396861]|Timothy syndrome [RCV000346466] |
Chr12:2693487 [GRCh38] Chr12:2802653 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*3031T>A |
single nucleotide variant |
Brugada syndrome [RCV000328239]|Timothy syndrome [RCV000266124] |
Chr12:2694230 [GRCh38] Chr12:2803396 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*2103C>T |
single nucleotide variant |
Brugada syndrome [RCV000403896]|Timothy syndrome [RCV000284349] |
Chr12:2693302 [GRCh38] Chr12:2802468 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-10C>T |
single nucleotide variant |
Long QT syndrome [RCV000465888] |
Chr12:2651630 [GRCh38] Chr12:2760796 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.212C>T (p.Ala71Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418161]|Long QT syndrome [RCV000698292] |
Chr12:2115386 [GRCh38] Chr12:2224552 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002317832]|Long QT syndrome [RCV000470871] |
Chr12:2567633 [GRCh38] Chr12:2676799 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.*290G>A |
single nucleotide variant |
Brugada syndrome [RCV000321991]|Timothy syndrome [RCV000266833] |
Chr12:2691489 [GRCh38] Chr12:2800655 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*2042G>A |
single nucleotide variant |
Brugada syndrome [RCV000342734]|Timothy syndrome [RCV000285384] |
Chr12:2693241 [GRCh38] Chr12:2802407 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.-181G>A |
single nucleotide variant |
not provided [RCV001680401] |
Chr12:2053382 [GRCh38] Chr12:2162548 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3717+11G>A |
single nucleotide variant |
Long QT syndrome [RCV002072366]|not provided [RCV001613760]|not specified [RCV001825011] |
Chr12:2610710 [GRCh38] Chr12:2719876 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=) |
single nucleotide variant |
Long QT syndrome [RCV002072929]|not provided [RCV001620492] |
Chr12:2115282 [GRCh38] Chr12:2224448 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1558G>A (p.Ala520Thr) |
single nucleotide variant |
Long QT syndrome [RCV000704148] |
Chr12:2566471 [GRCh38] Chr12:2675637 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4526+12G>C |
single nucleotide variant |
Long QT syndrome [RCV002186630] |
Chr12:2665720 [GRCh38] Chr12:2774886 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348044]|Long QT syndrome [RCV000631690]|not provided [RCV003480589] |
Chr12:2682597 [GRCh38] Chr12:2791763 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002314047]|Long QT syndrome [RCV000457023]|Timothy syndrome [RCV002504068]|not provided [RCV001702420]|not specified [RCV000425928] |
Chr12:2610549 [GRCh38] Chr12:2719715 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429261]|Long QT syndrome [RCV000462624]|not provided [RCV001723892]|not specified [RCV000421609] |
Chr12:2584510 [GRCh38] Chr12:2693676 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*769A>T |
single nucleotide variant |
Brugada syndrome [RCV000300608]|Timothy syndrome [RCV000353179] |
Chr12:2691968 [GRCh38] Chr12:2801134 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4090G>A |
single nucleotide variant |
Brugada syndrome [RCV000314251]|Timothy syndrome [RCV000354985] |
Chr12:2695289 [GRCh38] Chr12:2804455 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*1689A>G |
single nucleotide variant |
Brugada syndrome [RCV000330805]|Timothy syndrome [RCV000273372] |
Chr12:2692888 [GRCh38] Chr12:2802054 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*261G>C |
single nucleotide variant |
Brugada syndrome [RCV000319201]|Timothy syndrome [RCV000273451] |
Chr12:2691460 [GRCh38] Chr12:2800626 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*2707C>G |
single nucleotide variant |
Brugada syndrome [RCV000343750]|Timothy syndrome [RCV000291152] |
Chr12:2693906 [GRCh38] Chr12:2803072 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5968A>C |
single nucleotide variant |
Brugada syndrome [RCV000348898]|Timothy syndrome [RCV000291675] |
Chr12:2697167 [GRCh38] Chr12:2806333 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*3754T>G |
single nucleotide variant |
Brugada syndrome [RCV000389280]|Timothy syndrome [RCV000276176] |
Chr12:2694953 [GRCh38] Chr12:2804119 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=) |
single nucleotide variant |
Long QT syndrome [RCV000869918]|not provided [RCV001683239] |
Chr12:2115474 [GRCh38] Chr12:2224640 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*267G>C |
single nucleotide variant |
Brugada syndrome [RCV000260751]|Timothy syndrome [RCV000355633] |
Chr12:2691466 [GRCh38] Chr12:2800632 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4507G>A |
single nucleotide variant |
Brugada syndrome [RCV000335872]|Timothy syndrome [RCV000404173] |
Chr12:2695706 [GRCh38] Chr12:2804872 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4226C>T |
single nucleotide variant |
Brugada syndrome [RCV000381630]|Timothy syndrome [RCV000291830] |
Chr12:2695425 [GRCh38] Chr12:2804591 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4273A>G |
single nucleotide variant |
Brugada syndrome [RCV000351930]|Timothy syndrome [RCV000292266] |
Chr12:2695472 [GRCh38] Chr12:2804638 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*3139C>A |
single nucleotide variant |
Brugada syndrome [RCV000349703]|Timothy syndrome [RCV000292363] |
Chr12:2694338 [GRCh38] Chr12:2803504 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*2946C>T |
single nucleotide variant |
Brugada syndrome [RCV000306125]|Timothy syndrome [RCV000358529] |
Chr12:2694145 [GRCh38] Chr12:2803311 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328822]|Long QT syndrome [RCV001445226]|not provided [RCV000631738] |
Chr12:2664915 [GRCh38] Chr12:2774081 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*4467del |
deletion |
Brugada syndrome [RCV000389333]|Timothy syndrome [RCV000295032] |
Chr12:2695666 [GRCh38] Chr12:2804832 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5970A>C |
single nucleotide variant |
Brugada syndrome [RCV000403132]|Timothy syndrome [RCV000295098] |
Chr12:2697169 [GRCh38] Chr12:2806335 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*4532G>A |
single nucleotide variant |
Brugada syndrome [RCV000281898]|Timothy syndrome [RCV000336889] |
Chr12:2695731 [GRCh38] Chr12:2804897 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5785-10G>A |
single nucleotide variant |
Brugada syndrome [RCV000371388]|Timothy syndrome [RCV000276830] |
Chr12:2688437 [GRCh38] Chr12:2797603 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*2712T>C |
single nucleotide variant |
Brugada syndrome [RCV000406187]|Timothy syndrome [RCV000295492] |
Chr12:2693911 [GRCh38] Chr12:2803077 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*6533T>C |
single nucleotide variant |
Brugada syndrome [RCV000323856]|Timothy syndrome [RCV000362186] |
Chr12:2697732 [GRCh38] Chr12:2806898 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5261A>G |
single nucleotide variant |
Brugada syndrome [RCV000316612]|Timothy syndrome [RCV000261354] |
Chr12:2696460 [GRCh38] Chr12:2805626 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4299C>A |
single nucleotide variant |
Brugada syndrome [RCV000403574]|Timothy syndrome [RCV000298036] |
Chr12:2695498 [GRCh38] Chr12:2804664 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621492]|Long QT syndrome [RCV000474393]|not specified [RCV000428070] |
Chr12:2651642 [GRCh38] Chr12:2760808 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.*868C>T |
single nucleotide variant |
Brugada syndrome [RCV000361019]|Timothy syndrome [RCV000263990] |
Chr12:2692067 [GRCh38] Chr12:2801233 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5267C>A |
single nucleotide variant |
Brugada syndrome [RCV000375899]|Timothy syndrome [RCV000281050] |
Chr12:2696466 [GRCh38] Chr12:2805632 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*3042A>G |
single nucleotide variant |
Brugada syndrome [RCV000385007]|Timothy syndrome [RCV000269635] |
Chr12:2694241 [GRCh38] Chr12:2803407 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*960A>G |
single nucleotide variant |
Brugada syndrome [RCV000327008]|Timothy syndrome [RCV000269670] |
Chr12:2692159 [GRCh38] Chr12:2801325 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*1569G>A |
single nucleotide variant |
Brugada syndrome [RCV000362329]|Timothy syndrome [RCV000270012] |
Chr12:2692768 [GRCh38] Chr12:2801934 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*3903del |
deletion |
Brugada syndrome [RCV000403829]|Timothy syndrome [RCV000342618] |
Chr12:2695102 [GRCh38] Chr12:2804268 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*5968_*5970del |
deletion |
Brugada syndrome [RCV000384540]|Timothy syndrome [RCV000343953] |
Chr12:2697167..2697169 [GRCh38] Chr12:2806333..2806335 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4831T>A |
single nucleotide variant |
Brugada syndrome [RCV000273586]|Timothy syndrome [RCV000368086] |
Chr12:2696030 [GRCh38] Chr12:2805196 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*2825A>G |
single nucleotide variant |
Brugada syndrome [RCV000298001]|Timothy syndrome [RCV000393304] |
Chr12:2694024 [GRCh38] Chr12:2803190 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347983]|Long QT syndrome [RCV000538195]|Timothy syndrome [RCV002487172]|not provided [RCV000305564] |
Chr12:2685833 [GRCh38] Chr12:2794999 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) |
single nucleotide variant |
Long QT syndrome [RCV000631696]|not provided [RCV000305674] |
Chr12:2679492 [GRCh38] Chr12:2788658 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) |
single nucleotide variant |
Brugada syndrome [RCV000390000]|Cardiovascular phenotype [RCV002356419]|Long QT syndrome [RCV000552154]|Timothy syndrome [RCV000345641]|not specified [RCV000436421] |
Chr12:2449077 [GRCh38] Chr12:2558243 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.*2408G>A |
single nucleotide variant |
Brugada syndrome [RCV000261989]|Timothy syndrome [RCV000368318] |
Chr12:2693607 [GRCh38] Chr12:2802773 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] |
microsatellite |
Brugada syndrome [RCV000311296]|Timothy syndrome [RCV000394635] |
Chr12:2691850..2691851 [GRCh38] Chr12:2801016..2801017 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*1558T>A |
single nucleotide variant |
Brugada syndrome [RCV000310644]|Timothy syndrome [RCV000271892] |
Chr12:2692757 [GRCh38] Chr12:2801923 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5859C>T |
single nucleotide variant |
Brugada syndrome [RCV000264205]|Timothy syndrome [RCV000323985] |
Chr12:2697058 [GRCh38] Chr12:2806224 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4235C>T |
single nucleotide variant |
Brugada syndrome [RCV000402636]|Timothy syndrome [RCV000346875] |
Chr12:2695434 [GRCh38] Chr12:2804600 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*6193G>A |
single nucleotide variant |
Brugada syndrome [RCV000301878]|Timothy syndrome [RCV000396497] |
Chr12:2697392 [GRCh38] Chr12:2806558 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*2407C>T |
single nucleotide variant |
Brugada syndrome [RCV000311364]|Timothy syndrome [RCV000396817] |
Chr12:2693606 [GRCh38] Chr12:2802772 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*3611C>T |
single nucleotide variant |
Brugada syndrome [RCV000364896]|Timothy syndrome [RCV000272679] |
Chr12:2694810 [GRCh38] Chr12:2803976 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4411C>T |
single nucleotide variant |
Brugada syndrome [RCV000384624]|Timothy syndrome [RCV000325366] |
Chr12:2695610 [GRCh38] Chr12:2804776 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622005]|Long QT syndrome [RCV000466525]|not provided [RCV001653513] |
Chr12:2449035 [GRCh38] Chr12:2558201 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*1300C>T |
single nucleotide variant |
Brugada syndrome [RCV000341929]|Timothy syndrome [RCV000397633] |
Chr12:2692499 [GRCh38] Chr12:2801665 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4611T>G |
single nucleotide variant |
Brugada syndrome [RCV000342540]|Timothy syndrome [RCV000398004] |
Chr12:2695810 [GRCh38] Chr12:2804976 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*3338C>T |
single nucleotide variant |
Brugada syndrome [RCV000303099]|Timothy syndrome [RCV000398029] |
Chr12:2694537 [GRCh38] Chr12:2803703 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4727-6C>T |
single nucleotide variant |
Long QT syndrome [RCV001086045]|not provided [RCV000277918] |
Chr12:2674535 [GRCh38] Chr12:2783701 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.*3687A>C |
single nucleotide variant |
Brugada syndrome [RCV000363799]|Timothy syndrome [RCV000306741] |
Chr12:2694886 [GRCh38] Chr12:2804052 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*6553T>G |
single nucleotide variant |
Brugada syndrome [RCV000269846]|Timothy syndrome [RCV000327308] |
Chr12:2697752 [GRCh38] Chr12:2806918 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*3178A>T |
single nucleotide variant |
Brugada syndrome [RCV000281803]|Timothy syndrome [RCV000373731] |
Chr12:2694377 [GRCh38] Chr12:2803543 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4758G>T |
single nucleotide variant |
Brugada syndrome [RCV000362136]|Timothy syndrome [RCV000307468] |
Chr12:2695957 [GRCh38] Chr12:2805123 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5549A>C |
single nucleotide variant |
Brugada syndrome [RCV000405685]|Timothy syndrome [RCV000307341] |
Chr12:2696748 [GRCh38] Chr12:2805914 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450804]|Long QT syndrome [RCV002059098]|not provided [RCV000283453] |
Chr12:2115537 [GRCh38] Chr12:2224703 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401971]|Long QT syndrome [RCV000983967]|not provided [RCV001722383] |
Chr12:2567572 [GRCh38] Chr12:2676738 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=) |
single nucleotide variant |
Long QT syndrome [RCV002059224]|not provided [RCV000352122] |
Chr12:2567651 [GRCh38] Chr12:2676817 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*2309C>T |
single nucleotide variant |
Brugada syndrome [RCV000369738]|Timothy syndrome [RCV000308015] |
Chr12:2693508 [GRCh38] Chr12:2802674 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4810C>T |
single nucleotide variant |
Brugada syndrome [RCV000272430]|Timothy syndrome [RCV000308837] |
Chr12:2696009 [GRCh38] Chr12:2805175 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392849]|Long QT syndrome [RCV000473622]|not provided [RCV001672468] |
Chr12:2493275 [GRCh38] Chr12:2602441 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.*6023T>C |
single nucleotide variant |
Brugada syndrome [RCV000403324]|Timothy syndrome [RCV000352264] |
Chr12:2697222 [GRCh38] Chr12:2806388 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*2732T>G |
single nucleotide variant |
Brugada syndrome [RCV000393300]|Timothy syndrome [RCV000352570] |
Chr12:2693931 [GRCh38] Chr12:2803097 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5399T>C |
single nucleotide variant |
Brugada syndrome [RCV000340701]|Timothy syndrome [RCV000376634] |
Chr12:2696598 [GRCh38] Chr12:2805764 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*3892C>T |
single nucleotide variant |
Brugada syndrome [RCV000282911]|Timothy syndrome [RCV000377391] |
Chr12:2695091 [GRCh38] Chr12:2804257 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379112]|Long QT syndrome [RCV000541239]|not provided [RCV000284044] |
Chr12:2512935 [GRCh38] Chr12:2622101 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619626]|Long QT syndrome [RCV001081369]|not provided [RCV000352727]|not specified [RCV001256871] |
Chr12:2608685 [GRCh38] Chr12:2717851 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4726+9G>A |
single nucleotide variant |
Long QT syndrome [RCV000540252]|not specified [RCV000424344] |
Chr12:2669044 [GRCh38] Chr12:2778210 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.*2456G>T |
single nucleotide variant |
Brugada syndrome [RCV000319365]|Timothy syndrome [RCV000353219] |
Chr12:2693655 [GRCh38] Chr12:2802821 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617397]|Long QT syndrome [RCV000553293]|not provided [RCV001541231] |
Chr12:2606655 [GRCh38] Chr12:2715821 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*2857G>A |
single nucleotide variant |
Brugada syndrome [RCV000267401]|Timothy syndrome [RCV000354642] |
Chr12:2694056 [GRCh38] Chr12:2803222 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*2817G>A |
single nucleotide variant |
Brugada syndrome [RCV000313175]|Timothy syndrome [RCV000356208] |
Chr12:2694016 [GRCh38] Chr12:2803182 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*2623A>G |
single nucleotide variant |
Brugada syndrome [RCV000282984]|Timothy syndrome [RCV000379761] |
Chr12:2693822 [GRCh38] Chr12:2802988 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5585G>A |
single nucleotide variant |
Brugada syndrome [RCV000347992]|Timothy syndrome [RCV000404293] |
Chr12:2696784 [GRCh38] Chr12:2805950 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*1151C>T |
single nucleotide variant |
Brugada syndrome [RCV000298667]|Timothy syndrome [RCV000405519] |
Chr12:2692350 [GRCh38] Chr12:2801516 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs) |
deletion |
not provided [RCV000322339] |
Chr12:2610653 [GRCh38] Chr12:2719819 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5147A>G |
single nucleotide variant |
Brugada syndrome [RCV000388511]|Timothy syndrome [RCV000333993] |
Chr12:2696346 [GRCh38] Chr12:2805512 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*3223C>A |
single nucleotide variant |
Brugada syndrome [RCV000405065]|Timothy syndrome [RCV000334448] |
Chr12:2694422 [GRCh38] Chr12:2803588 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*2651C>T |
single nucleotide variant |
Brugada syndrome [RCV000321426]|Timothy syndrome [RCV000383022] |
Chr12:2693850 [GRCh38] Chr12:2803016 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*6281G>A |
single nucleotide variant |
Brugada syndrome [RCV000359057]|Timothy syndrome [RCV000266754] |
Chr12:2697480 [GRCh38] Chr12:2806646 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436155]|Long QT syndrome [RCV000797310]|not provided [RCV000486236] |
Chr12:2597249 [GRCh38] Chr12:2706415 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.*3832A>C |
single nucleotide variant |
Brugada syndrome [RCV000281970]|Timothy syndrome [RCV000336972] |
Chr12:2695031 [GRCh38] Chr12:2804197 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) |
single nucleotide variant |
Long QT syndrome [RCV000808464]|Timothy syndrome [RCV000337286]|Timothy syndrome [RCV002494962]|not provided [RCV000994771] |
Chr12:2585473 [GRCh38] Chr12:2694639 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.*4410G>T |
single nucleotide variant |
Brugada syndrome [RCV000270260]|Timothy syndrome [RCV000360195] |
Chr12:2695609 [GRCh38] Chr12:2804775 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*284C>T |
single nucleotide variant |
not provided [RCV000860173] |
Chr12:2691483 [GRCh38] Chr12:2800649 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*1125G>A |
single nucleotide variant |
Brugada syndrome [RCV000281524]|Timothy syndrome [RCV000338862] |
Chr12:2692324 [GRCh38] Chr12:2801490 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3330C>T (p.Thr1110=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321981]|Long QT syndrome [RCV000866191] |
Chr12:2607104 [GRCh38] Chr12:2716270 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450857]|Long QT syndrome [RCV001243195] |
Chr12:2608522 [GRCh38] Chr12:2717688 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338886]|Long QT syndrome [RCV001034179]|Timothy syndrome [RCV000317439]|not provided [RCV001701945] |
Chr12:2677799 [GRCh38] Chr12:2786965 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*3804C>T |
single nucleotide variant |
Brugada syndrome [RCV000371827]|Timothy syndrome [RCV000317166] |
Chr12:2695003 [GRCh38] Chr12:2804169 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3718-12C>T |
single nucleotide variant |
Long QT syndrome [RCV002111451] |
Chr12:2611891 [GRCh38] Chr12:2721057 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4623+13G>A |
single nucleotide variant |
Long QT syndrome [RCV002056287]|not provided [RCV001711912]|not specified [RCV001420850] |
Chr12:2666795 [GRCh38] Chr12:2775961 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002311414]|Long QT syndrome [RCV000868037]|not provided [RCV001612975] |
Chr12:2566470 [GRCh38] Chr12:2675636 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278756]|Long QT syndrome [RCV000798349] |
Chr12:2585434 [GRCh38] Chr12:2694600 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388898]|Long QT syndrome [RCV001958020]|Timothy syndrome [RCV002492029] |
Chr12:2053575 [GRCh38] Chr12:2162741 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2794-190G>T |
single nucleotide variant |
not provided [RCV001565782] |
Chr12:2597040 [GRCh38] Chr12:2706206 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6407G>A (p.Ser2136Asn) |
single nucleotide variant |
Long QT syndrome [RCV000553837] |
Chr12:2691189 [GRCh38] Chr12:2800355 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3939C>T (p.Pro1313=) |
single nucleotide variant |
not specified [RCV001269167] |
Chr12:2648501 [GRCh38] Chr12:2757667 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350146]|Long QT syndrome [RCV000706517]|not provided [RCV000523216] |
Chr12:2679490 [GRCh38] Chr12:2788656 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362826]|Long QT syndrome [RCV000532715]|not specified [RCV001002112] |
Chr12:2677102 [GRCh38] Chr12:2786268 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.618-6T>G |
single nucleotide variant |
Long QT syndrome [RCV001367887] |
Chr12:2457561 [GRCh38] Chr12:2566727 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn) |
single nucleotide variant |
Long QT syndrome [RCV000553663]|Timothy syndrome [RCV002483365] |
Chr12:2607055 [GRCh38] Chr12:2716221 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334000]|Long QT syndrome [RCV002066582]|not specified [RCV000606533] |
Chr12:2679533 [GRCh38] Chr12:2788699 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*297C>A |
single nucleotide variant |
Brugada syndrome [RCV000376485]|Timothy syndrome [RCV000291480] |
Chr12:2691496 [GRCh38] Chr12:2800662 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.-233C>T |
single nucleotide variant |
Brugada syndrome [RCV000391569]|Timothy syndrome [RCV000302976] |
Chr12:2053330 [GRCh38] Chr12:2162496 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*3722C>T |
single nucleotide variant |
Brugada syndrome [RCV000275078]|Timothy syndrome [RCV000330100] |
Chr12:2694921 [GRCh38] Chr12:2804087 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617301] |
Chr12:2608611 [GRCh38] Chr12:2717777 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618088]|Long QT syndrome [RCV001370869]|not specified [RCV001824844] |
Chr12:2686222 [GRCh38] Chr12:2795388 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2958C>T (p.Ile986=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436156]|Long QT syndrome [RCV001450166] |
Chr12:2601958 [GRCh38] Chr12:2711124 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*828G>A |
single nucleotide variant |
Brugada syndrome [RCV000260637]|Timothy syndrome [RCV000304114] |
Chr12:2692027 [GRCh38] Chr12:2801193 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*3299C>G |
single nucleotide variant |
Brugada syndrome [RCV000342835]|Timothy syndrome [RCV000304267] |
Chr12:2694498 [GRCh38] Chr12:2803664 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4440C>G |
single nucleotide variant |
Brugada syndrome [RCV000290402]|Timothy syndrome [RCV000331343] |
Chr12:2695639 [GRCh38] Chr12:2804805 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*605G>C |
single nucleotide variant |
Brugada syndrome [RCV000382417]|Timothy syndrome [RCV000346535] |
Chr12:2691804 [GRCh38] Chr12:2800970 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*6557C>G |
single nucleotide variant |
Brugada syndrome [RCV000292293]|Timothy syndrome [RCV000384373] |
Chr12:2697756 [GRCh38] Chr12:2806922 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5599A>G |
single nucleotide variant |
Brugada syndrome [RCV000313065]|Timothy syndrome [RCV000367749] |
Chr12:2696798 [GRCh38] Chr12:2805964 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4624-4G>A |
single nucleotide variant |
Long QT syndrome [RCV003088259] |
Chr12:2668929 [GRCh38] Chr12:2778095 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*4134A>G |
single nucleotide variant |
Brugada syndrome [RCV000260258]|Timothy syndrome [RCV000320096] |
Chr12:2695333 [GRCh38] Chr12:2804499 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*1109dup |
duplication |
Brugada syndrome [RCV000349321]|Timothy syndrome [RCV000387610] |
Chr12:2692303..2692304 [GRCh38] Chr12:2801469..2801470 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.*6591A>G |
single nucleotide variant |
Brugada syndrome [RCV000331039]|Timothy syndrome [RCV000387839] |
Chr12:2697790 [GRCh38] Chr12:2806956 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) |
single nucleotide variant |
CACNA1C-related condition [RCV003403259]|Cardiovascular phenotype [RCV000621450]|Long QT syndrome [RCV000551631]|not provided [RCV001310630] |
Chr12:2688721 [GRCh38] Chr12:2797887 [GRCh37] Chr12:12p13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.5525A>C (p.Asn1842Thr) |
single nucleotide variant |
Brugada syndrome [RCV000381338]|Timothy syndrome [RCV000296360] |
Chr12:2682630 [GRCh38] Chr12:2791796 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*3951G>C |
single nucleotide variant |
Brugada syndrome [RCV000343789]|Timothy syndrome [RCV000307687] |
Chr12:2695150 [GRCh38] Chr12:2804316 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4198A>G |
single nucleotide variant |
Brugada syndrome [RCV000380603]|Timothy syndrome [RCV000321369] |
Chr12:2695397 [GRCh38] Chr12:2804563 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*896A>T |
single nucleotide variant |
Brugada syndrome [RCV000383110]|Timothy syndrome [RCV000321500] |
Chr12:2692095 [GRCh38] Chr12:2801261 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*977A>G |
single nucleotide variant |
Brugada syndrome [RCV000296597]|Timothy syndrome [RCV000388540] |
Chr12:2692176 [GRCh38] Chr12:2801342 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*3063C>G |
single nucleotide variant |
Brugada syndrome [RCV000332113]|Timothy syndrome [RCV000388947] |
Chr12:2694262 [GRCh38] Chr12:2803428 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4205C>T |
single nucleotide variant |
Brugada syndrome [RCV000327134]|Timothy syndrome [RCV000286149] |
Chr12:2695404 [GRCh38] Chr12:2804570 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*2473G>A |
single nucleotide variant |
Brugada syndrome [RCV000260572]|Timothy syndrome [RCV000322726] |
Chr12:2693672 [GRCh38] Chr12:2802838 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*630G>A |
single nucleotide variant |
Brugada syndrome [RCV000288092]|Timothy syndrome [RCV000352438] |
Chr12:2691829 [GRCh38] Chr12:2800995 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5811G>A |
single nucleotide variant |
Brugada syndrome [RCV000262806]|Timothy syndrome [RCV000352953] |
Chr12:2697010 [GRCh38] Chr12:2806176 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4318G>A |
single nucleotide variant |
Brugada syndrome [RCV000395473]|Timothy syndrome [RCV000353170] |
Chr12:2695517 [GRCh38] Chr12:2804683 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*1652GAATT[1] |
microsatellite |
Brugada syndrome [RCV000332165]|Timothy syndrome [RCV000370444] |
Chr12:2692850..2692854 [GRCh38] Chr12:2802016..2802020 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2965A>G (p.Ser989Gly) |
single nucleotide variant |
Long QT syndrome [RCV000552394] |
Chr12:2605085 [GRCh38] Chr12:2714251 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5734G>C |
single nucleotide variant |
Brugada syndrome [RCV000275806]|Timothy syndrome [RCV000298104] |
Chr12:2696933 [GRCh38] Chr12:2806099 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.477+8C>T |
single nucleotide variant |
Long QT syndrome [RCV000552738] |
Chr12:2120438 [GRCh38] Chr12:2229604 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*4399T>G |
single nucleotide variant |
Brugada syndrome [RCV000264281]|Timothy syndrome [RCV000324097] |
Chr12:2695598 [GRCh38] Chr12:2804764 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619388]|History of neurodevelopmental disorder [RCV000717251]|Long QT syndrome [RCV001344639]|not provided [RCV003391097] |
Chr12:2691021 [GRCh38] Chr12:2800187 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*6102G>A |
single nucleotide variant |
Brugada syndrome [RCV000298575]|Timothy syndrome [RCV000355729] |
Chr12:2697301 [GRCh38] Chr12:2806467 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*1925C>T |
single nucleotide variant |
Brugada syndrome [RCV000316022]|Timothy syndrome [RCV000372918] |
Chr12:2693124 [GRCh38] Chr12:2802290 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4917T>C (p.Leu1639=) |
single nucleotide variant |
Long QT syndrome [RCV003048983] |
Chr12:2677182 [GRCh38] Chr12:2786348 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.-214A>G |
single nucleotide variant |
Brugada syndrome [RCV000404925]|Timothy syndrome [RCV000357732] |
Chr12:2053349 [GRCh38] Chr12:2162515 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.567C>T (p.Ala189=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347412] |
Chr12:2449065 [GRCh38] Chr12:2558231 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.*768dup |
duplication |
Brugada syndrome [RCV000349757]|Timothy syndrome [RCV000394633] |
Chr12:2691959..2691960 [GRCh38] Chr12:2801125..2801126 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*5421del |
deletion |
Brugada syndrome [RCV000287349]|Timothy syndrome [RCV000342355] |
Chr12:2696604 [GRCh38] Chr12:2805770 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3681C>T (p.Val1227=) |
single nucleotide variant |
Brugada syndrome [RCV000390431]|Timothy syndrome [RCV000358157] |
Chr12:2610663 [GRCh38] Chr12:2719829 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4345C>T |
single nucleotide variant |
Brugada syndrome [RCV000299349]|Timothy syndrome [RCV000358883] |
Chr12:2695544 [GRCh38] Chr12:2804710 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) |
deletion |
Brugada syndrome [RCV000403966]|Timothy syndrome [RCV000343119] |
Chr12:2691016..2691018 [GRCh38] Chr12:2800182..2800184 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*1473G>T |
single nucleotide variant |
Brugada syndrome [RCV000302568]|Timothy syndrome [RCV000359597] |
Chr12:2692672 [GRCh38] Chr12:2801838 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5841G>A |
single nucleotide variant |
Brugada syndrome [RCV000318143]|Timothy syndrome [RCV000377476] |
Chr12:2697040 [GRCh38] Chr12:2806206 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365358]|Long QT syndrome [RCV001369849] |
Chr12:2691153 [GRCh38] Chr12:2800319 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4050G>A |
single nucleotide variant |
Brugada syndrome [RCV000367722]|Timothy syndrome [RCV000397328] |
Chr12:2695249 [GRCh38] Chr12:2804415 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*4025C>T |
single nucleotide variant |
Brugada syndrome [RCV000308764]|Timothy syndrome [RCV000397334] |
Chr12:2695224 [GRCh38] Chr12:2804390 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.486G>A (p.Val162=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622001]|Long QT syndrome [RCV001487291] |
Chr12:2448984 [GRCh38] Chr12:2558150 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*184G>A |
single nucleotide variant |
Brugada syndrome [RCV000367919]|Timothy syndrome [RCV000313303] |
Chr12:2691383 [GRCh38] Chr12:2800549 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.*5889G>A |
single nucleotide variant |
Brugada syndrome [RCV000288921]|Timothy syndrome [RCV000378678] |
Chr12:2697088 [GRCh38] Chr12:2806254 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002532448]|Timothy syndrome [RCV001332567]|not provided [RCV000593906] |
Chr12:2679787 [GRCh38] Chr12:2788953 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs) |
deletion |
not provided [RCV000598560] |
Chr12:2679551 [GRCh38] Chr12:2788717 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.615G>T (p.Val205=) |
single nucleotide variant |
Long QT syndrome [RCV000527044] |
Chr12:2449113 [GRCh38] Chr12:2558279 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003159995]|Long QT syndrome [RCV003105977]|not provided [RCV000587803] |
Chr12:2053576 [GRCh38] Chr12:2162742 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) |
single nucleotide variant |
Timothy syndrome [RCV003139901]|not provided [RCV000598828] |
Chr12:2686213 [GRCh38] Chr12:2795379 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358646]|Long QT syndrome [RCV001456810]|not provided [RCV000587256] |
Chr12:2688593 [GRCh38] Chr12:2797759 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val) |
single nucleotide variant |
Inborn genetic diseases [RCV000623291] |
Chr12:2581684 [GRCh38] Chr12:2690850 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1114-10G>A |
single nucleotide variant |
Long QT syndrome [RCV001500921]|not provided [RCV000589363] |
Chr12:2504832 [GRCh38] Chr12:2613998 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2854-4G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002438525]|Long QT syndrome [RCV001084807]|Timothy syndrome [RCV003224341]|not provided [RCV000589613] |
Chr12:2601850 [GRCh38] Chr12:2711016 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) |
single nucleotide variant |
CACNA1C-Related Disorder [RCV000844982]|Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002283488]|not provided [RCV000523935] |
Chr12:2653847 [GRCh38] Chr12:2763013 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|not provided |
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs) |
deletion |
Inborn genetic diseases [RCV000623871] |
Chr12:2606655 [GRCh38] Chr12:2715821 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395506]|Long QT syndrome [RCV000631856]|not provided [RCV000589968] |
Chr12:2549980 [GRCh38] Chr12:2659146 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621034]|Long QT syndrome [RCV000819921] |
Chr12:2595970 [GRCh38] Chr12:2705136 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6348T>C (p.Cys2116=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621066] |
Chr12:2691130 [GRCh38] Chr12:2800296 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1888A>G (p.Ile630Val) |
single nucleotide variant |
Long QT syndrome [RCV000555416] |
Chr12:2567787 [GRCh38] Chr12:2676953 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368026]|Long QT syndrome [RCV000798962]|not provided [RCV000591624] |
Chr12:2691120 [GRCh38] Chr12:2800286 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6403G>A (p.Val2135Ile) |
single nucleotide variant |
Long QT syndrome [RCV000806083] |
Chr12:2691185 [GRCh38] Chr12:2800351 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) |
single nucleotide variant |
Brugada syndrome [RCV000590951]|Cardiovascular phenotype [RCV002379272]|Long QT syndrome [RCV001865296]|not provided [RCV003144249]|not specified [RCV000414600] |
Chr12:2115304 [GRCh38] Chr12:2224470 [GRCh37] Chr12:12p13.33 |
association|uncertain significance |
NM_000719.7(CACNA1C):c.3061T>G (p.Cys1021Gly) |
single nucleotide variant |
not specified [RCV000414641] |
Chr12:2605691 [GRCh38] Chr12:2714857 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5477C>T (p.Ala1826Val) |
single nucleotide variant |
Long QT syndrome [RCV000537004] |
Chr12:2682582 [GRCh38] Chr12:2791748 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) |
single nucleotide variant |
Epilepsy [RCV000415023]|Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002283478] |
Chr12:2567740 [GRCh38] Chr12:2676906 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe) |
single nucleotide variant |
not provided [RCV000730415] |
Chr12:2115227 [GRCh38] Chr12:2224393 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367778]|Long QT syndrome [RCV000534957]|not provided [RCV002056917] |
Chr12:2690979 [GRCh38] Chr12:2800145 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2700G>A (p.Thr900=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431538]|Long QT syndrome [RCV000539334] |
Chr12:2595910 [GRCh38] Chr12:2705076 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5442C>T (p.Asn1814=) |
single nucleotide variant |
Long QT syndrome [RCV000535530] |
Chr12:2679794 [GRCh38] Chr12:2788960 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) |
single nucleotide variant |
Cardiac arrhythmia [RCV002230228]|Cardiovascular phenotype [RCV002402099]|Hypertrophic cardiomyopathy 1 [RCV000584800]|Long QT syndrome [RCV000631664]|Long qt syndrome 8 [RCV001808785]|Timothy syndrome [RCV002288982]|not provided [RCV000412828] |
Chr12:2566466 [GRCh38] Chr12:2675632 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448628]|Long QT syndrome [RCV000533280]|not provided [RCV001755800] |
Chr12:2607009 [GRCh38] Chr12:2716175 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5561T>C (p.Leu1854Pro) |
single nucleotide variant |
Long QT syndrome [RCV000541844] |
Chr12:2682666 [GRCh38] Chr12:2791832 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3367C>T (p.Arg1123Cys) |
single nucleotide variant |
not specified [RCV000413738] |
Chr12:2608521 [GRCh38] Chr12:2717687 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341264]|Long QT syndrome [RCV000559093]|not specified [RCV001584244] |
Chr12:2679495 [GRCh38] Chr12:2788661 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.12:g.(1_3750000)_(5250000_9000000)del |
deletion |
Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] |
Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31 |
pathogenic|not provided |
NM_000719.7(CACNA1C):c.3240G>A (p.Glu1080=) |
single nucleotide variant |
Long QT syndrome [RCV000541178] |
Chr12:2607014 [GRCh38] Chr12:2716180 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:2152336-2202287)x3 |
copy number gain |
See cases [RCV000449110] |
Chr12:2152336..2202287 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3762C>T (p.Leu1254=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350179]|Long QT syndrome [RCV000531130] |
Chr12:2611947 [GRCh38] Chr12:2721113 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 |
copy number gain |
See cases [RCV000449191] |
Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 |
copy number gain |
See cases [RCV000449287] |
Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
See cases [RCV000447551] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 |
copy number loss |
See cases [RCV000447106] |
Chr12:173786..6378954 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33(chr12:2306499-2646928)x3 |
copy number gain |
See cases [RCV000446998] |
Chr12:2306499..2646928 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 |
copy number loss |
See cases [RCV000446628] |
Chr12:173786..5737510 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 |
copy number gain |
See cases [RCV000446050] |
Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 |
copy number gain |
See cases [RCV000446749] |
Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328911]|Long QT syndrome [RCV000550369]|not specified [RCV000430903] |
Chr12:2664897 [GRCh38] Chr12:2774063 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3978C>T (p.Thr1326=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374659]|Long QT syndrome [RCV000865287]|not specified [RCV000444993] |
Chr12:2651672 [GRCh38] Chr12:2760838 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621538]|Long QT syndrome [RCV000462274]|not provided [RCV001810902]|not specified [RCV000427393] |
Chr12:2664909 [GRCh38] Chr12:2774075 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4829-8C>T |
single nucleotide variant |
Long QT syndrome [RCV001393115]|not specified [RCV000431118] |
Chr12:2677086 [GRCh38] Chr12:2786252 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+20C>T |
single nucleotide variant |
not specified [RCV000441680] |
Chr12:2584637 [GRCh38] Chr12:2693803 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln) |
single nucleotide variant |
Long QT syndrome [RCV000553479]|Timothy syndrome [RCV002490958] |
Chr12:2691116 [GRCh38] Chr12:2800282 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303162]|Long QT syndrome [RCV000697996]|Timothy syndrome [RCV000763838] |
Chr12:2688663 [GRCh38] Chr12:2797829 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3912+14G>A |
single nucleotide variant |
Long QT syndrome [RCV002061349]|not specified [RCV000417828] |
Chr12:2634394 [GRCh38] Chr12:2743560 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4232+18T>G |
single nucleotide variant |
Long QT syndrome [RCV002525357]|not specified [RCV000417855] |
Chr12:2655256 [GRCh38] Chr12:2764422 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4074+19C>T |
single nucleotide variant |
not specified [RCV000418013] |
Chr12:2651787 [GRCh38] Chr12:2760953 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1332C>T (p.Ala444=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620199]|Long QT syndrome [RCV000631744]|not specified [RCV000424070] |
Chr12:2512926 [GRCh38] Chr12:2622092 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4527-7C>T |
single nucleotide variant |
Long QT syndrome [RCV002062782]|not specified [RCV000427638] |
Chr12:2666679 [GRCh38] Chr12:2775845 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1482-15C>T |
single nucleotide variant |
not specified [RCV000431531] |
Chr12:2556936 [GRCh38] Chr12:2666102 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5444+609C>T |
single nucleotide variant |
not specified [RCV000442042] |
Chr12:2680405 [GRCh38] Chr12:2789571 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2530+13C>T |
single nucleotide variant |
Long QT syndrome [RCV002058886]|not specified [RCV000418273] |
Chr12:2585917 [GRCh38] Chr12:2695083 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619866]|Long QT syndrome [RCV000813437]|Long qt syndrome 8 [RCV002272236]|Timothy syndrome [RCV002481342]|Ventricular tachycardia [RCV000852443]|not provided [RCV000424636] |
Chr12:2566468 [GRCh38] Chr12:2675634 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1114-416G>A |
single nucleotide variant |
Long QT syndrome [RCV001443912]|not specified [RCV000428058] |
Chr12:2504426 [GRCh38] Chr12:2613592 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3111C>T (p.Thr1037=) |
single nucleotide variant |
not specified [RCV000435234] |
Chr12:2605741 [GRCh38] Chr12:2714907 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5444+723C>T |
single nucleotide variant |
not provided [RCV001698262] |
Chr12:2680519 [GRCh38] Chr12:2789685 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) |
single nucleotide variant |
Timothy syndrome [RCV000519272]|not provided [RCV000442339] |
Chr12:2581611 [GRCh38] Chr12:2690777 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4956+16C>T |
single nucleotide variant |
Long QT syndrome [RCV002061586]|not specified [RCV000435243] |
Chr12:2677237 [GRCh38] Chr12:2786403 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5444+610G>A |
single nucleotide variant |
not specified [RCV000425051] |
Chr12:2680406 [GRCh38] Chr12:2789572 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4232+16C>A |
single nucleotide variant |
not specified [RCV000425115] |
Chr12:2655254 [GRCh38] Chr12:2764420 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1896-18C>A |
single nucleotide variant |
Long QT syndrome [RCV002063340]|not specified [RCV000438974] |
Chr12:2581572 [GRCh38] Chr12:2690738 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168622]|Long QT syndrome [RCV001484180]|not specified [RCV000439177] |
Chr12:2651744 [GRCh38] Chr12:2760910 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379293]|Long QT syndrome [RCV000631752]|not provided [RCV001718813]|not specified [RCV003235206] |
Chr12:2115309 [GRCh38] Chr12:2224475 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2961-5C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002436268]|Long QT syndrome [RCV000869631]|not specified [RCV000421735] |
Chr12:2605076 [GRCh38] Chr12:2714242 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1800C>T (p.Ile600=) |
single nucleotide variant |
Long QT syndrome [RCV001447832]|not specified [RCV000421796] |
Chr12:2567699 [GRCh38] Chr12:2676865 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620781]|Long QT syndrome [RCV000631808]|not provided [RCV001723995]|not specified [RCV000425308] |
Chr12:2691124 [GRCh38] Chr12:2800290 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5444+618C>T |
single nucleotide variant |
not specified [RCV000428806] |
Chr12:2680414 [GRCh38] Chr12:2789580 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.-27T>G |
single nucleotide variant |
not specified [RCV000432151] |
Chr12:2053536 [GRCh38] Chr12:2162702 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2461-3T>C |
single nucleotide variant |
Long QT syndrome [RCV001865347]|not specified [RCV000432278] |
Chr12:2585832 [GRCh38] Chr12:2694998 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5680+11C>A |
single nucleotide variant |
Long QT syndrome [RCV002061351]|not specified [RCV000432389] |
Chr12:2685853 [GRCh38] Chr12:2795019 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402121]|Long QT syndrome [RCV001443454]|not specified [RCV000435954] |
Chr12:2567573 [GRCh38] Chr12:2676739 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451021]|Long QT syndrome [RCV001247420]|not provided [RCV001704401] |
Chr12:2608643 [GRCh38] Chr12:2717809 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278800]|Long QT syndrome [RCV002065013]|not specified [RCV000419662] |
Chr12:2610630 [GRCh38] Chr12:2719796 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3723C>T (p.Tyr1241=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617991]|Long QT syndrome [RCV000631803]|not specified [RCV000436174] |
Chr12:2611908 [GRCh38] Chr12:2721074 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5016T>C (p.Asp1672=) |
single nucleotide variant |
not specified [RCV000436208] |
Chr12:2677792 [GRCh38] Chr12:2786958 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328955]|Long QT syndrome [RCV000550018]|not provided [RCV001703834] |
Chr12:2653888 [GRCh38] Chr12:2763054 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2854-10C>G |
single nucleotide variant |
Long QT syndrome [RCV001452773]|not specified [RCV000439797] |
Chr12:2601844 [GRCh38] Chr12:2711010 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365465]|Long QT syndrome [RCV000464469]|Timothy syndrome [RCV002502467]|not specified [RCV000425844] |
Chr12:2691121 [GRCh38] Chr12:2800287 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1669+15C>T |
single nucleotide variant |
not specified [RCV000422695] |
Chr12:2566597 [GRCh38] Chr12:2675763 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1391-17C>G |
single nucleotide variant |
not specified [RCV000426068] |
Chr12:2549926 [GRCh38] Chr12:2659092 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411287]|Long QT syndrome [RCV000631567]|not specified [RCV000426407] |
Chr12:2493338 [GRCh38] Chr12:2602504 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1806G>A (p.Glu602=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411360]|Long QT syndrome [RCV002059701]|not specified [RCV000433348] |
Chr12:2567705 [GRCh38] Chr12:2676871 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339007]|Long QT syndrome [RCV000804628]|Timothy syndrome [RCV002506030]|not provided [RCV000436727] |
Chr12:2449010 [GRCh38] Chr12:2558176 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3822A>G (p.Lys1274=) |
single nucleotide variant |
not specified [RCV000436756] |
Chr12:2612007 [GRCh38] Chr12:2721173 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5091+17C>T |
single nucleotide variant |
Long QT syndrome [RCV002061350]|not specified [RCV000440425] |
Chr12:2677884 [GRCh38] Chr12:2787050 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168644]|Long QT syndrome [RCV000871659]|not specified [RCV000444177] |
Chr12:2115249 [GRCh38] Chr12:2224415 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339045]|Long QT syndrome [RCV000459997]|not provided [RCV001703867] |
Chr12:2677209 [GRCh38] Chr12:2786375 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-45C>A |
single nucleotide variant |
not specified [RCV000423064] |
Chr12:2651595 [GRCh38] Chr12:2760761 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5444+719G>A |
single nucleotide variant |
Long QT syndrome [RCV000631867]|Timothy syndrome [RCV002488911]|not specified [RCV000426482] |
Chr12:2680515 [GRCh38] Chr12:2789681 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1508+15C>T |
single nucleotide variant |
Long QT syndrome [RCV002061348]|not specified [RCV000426609] |
Chr12:2556992 [GRCh38] Chr12:2666158 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.135C>A (p.Thr45=) |
single nucleotide variant |
not specified [RCV000430118] |
Chr12:2115309 [GRCh38] Chr12:2224475 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-46C>T |
single nucleotide variant |
not specified [RCV000440559] |
Chr12:2651594 [GRCh38] Chr12:2760760 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) |
copy number gain |
See cases [RCV000446017] |
Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.7(CACNA1C):c.3087C>A (p.Ile1029=) |
single nucleotide variant |
not specified [RCV000444460] |
Chr12:2605717 [GRCh38] Chr12:2714883 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619335]|Long QT syndrome [RCV000474020]|not provided [RCV001720103] |
Chr12:2653882 [GRCh38] Chr12:2763048 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348160]|Long QT syndrome [RCV000525413]|not provided [RCV001723988]|not specified [RCV000423415] |
Chr12:2682655 [GRCh38] Chr12:2791821 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618039]|Long QT syndrome [RCV000476290]|not provided [RCV001718814]|not specified [RCV000433917] |
Chr12:2679551 [GRCh38] Chr12:2788717 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4860C>A (p.Ala1620=) |
single nucleotide variant |
not specified [RCV000434085] |
Chr12:2677125 [GRCh38] Chr12:2786291 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3157-16G>C |
single nucleotide variant |
Long QT syndrome [RCV002058965]|not specified [RCV000441025] |
Chr12:2606595 [GRCh38] Chr12:2715761 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402180]|not provided [RCV001704371] |
Chr12:2566533 [GRCh38] Chr12:2675699 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:173786-2865649)x1 |
copy number loss |
See cases [RCV000447876] |
Chr12:173786..2865649 [GRCh37] Chr12:12p13.33 |
pathogenic |
NC_000012.12:g.(?_2689684)_(2732352_?)del |
deletion |
Schizophrenia [RCV000416647] |
Chr12:2689684..2732352 [GRCh38] Chr12:2798850..2841518 [GRCh37] Chr12:2669111..2711779 [NCBI36] Chr12:12p13.33 |
likely pathogenic |
GRCh37/hg19 12p13.33(chr12:2055265-2655926)x3 |
copy number gain |
See cases [RCV000447932] |
Chr12:2055265..2655926 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2202489-2295112)x4 |
copy number gain |
See cases [RCV000448102] |
Chr12:2202489..2295112 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618105]|Long QT syndrome [RCV000461165]|Timothy syndrome [RCV002481495]|not provided [RCV001093116] |
Chr12:2677798 [GRCh38] Chr12:2786964 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2286_2288del (p.Thr763del) |
deletion |
Long QT syndrome [RCV000461368] |
Chr12:2584564..2584566 [GRCh38] Chr12:2693730..2693732 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=) |
single nucleotide variant |
Long QT syndrome [RCV000461556]|not specified [RCV001192660] |
Chr12:2677206 [GRCh38] Chr12:2786372 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2633G>C (p.Ser878Thr) |
single nucleotide variant |
Long QT syndrome [RCV000461810] |
Chr12:2593315 [GRCh38] Chr12:2702481 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168856]|Long QT syndrome [RCV000461912]|Timothy syndrome [RCV002506132] |
Chr12:2688726 [GRCh38] Chr12:2797892 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) |
microsatellite |
Cardiovascular phenotype [RCV003298505]|Long QT syndrome [RCV000462994]|Timothy syndrome [RCV002489084]|not provided [RCV001764446] |
Chr12:2685779..2685781 [GRCh38] Chr12:2794945..2794947 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002318583]|Long QT syndrome [RCV001047449]|not provided [RCV000483676] |
Chr12:2120413 [GRCh38] Chr12:2229579 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3060G>A (p.Gln1020=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446912]|Long QT syndrome [RCV001505760] |
Chr12:2605690 [GRCh38] Chr12:2714856 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431381]|Long QT syndrome [RCV000464050]|not provided [RCV001712564] |
Chr12:2486174 [GRCh38] Chr12:2595340 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1965C>T (p.Leu655=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168928]|Long QT syndrome [RCV001442980] |
Chr12:2581659 [GRCh38] Chr12:2690825 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6096T>C (p.Ser2032=) |
single nucleotide variant |
Long QT syndrome [RCV000464626] |
Chr12:2688758 [GRCh38] Chr12:2797924 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.951G>A (p.Ala317=) |
single nucleotide variant |
Long QT syndrome [RCV001417836] |
Chr12:2493224 [GRCh38] Chr12:2602390 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1952T>A (p.Ile651Asn) |
single nucleotide variant |
Long QT syndrome [RCV000464869] |
Chr12:2581646 [GRCh38] Chr12:2690812 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6193G>A (p.Asp2065Asn) |
single nucleotide variant |
Long QT syndrome [RCV000465173] |
Chr12:2690975 [GRCh38] Chr12:2800141 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.234C>T (p.Ser78=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168929]|Long QT syndrome [RCV000465333] |
Chr12:2115408 [GRCh38] Chr12:2224574 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg) |
single nucleotide variant |
not provided [RCV000484225] |
Chr12:2567740 [GRCh38] Chr12:2676906 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323834]|Long QT syndrome [RCV001078815]|not provided [RCV000484291] |
Chr12:2606654 [GRCh38] Chr12:2715820 [GRCh37] Chr12:12p13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.4232+4G>A |
single nucleotide variant |
Long QT syndrome [RCV000466773] |
Chr12:2655242 [GRCh38] Chr12:2764408 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446911]|Long QT syndrome [RCV000467587]|Timothy syndrome [RCV002496843] |
Chr12:2607020 [GRCh38] Chr12:2716186 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5841A>G (p.Ser1947=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298538]|Long QT syndrome [RCV000468165] |
Chr12:2688503 [GRCh38] Chr12:2797669 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1348G>C (p.Glu450Gln) |
single nucleotide variant |
Long QT syndrome [RCV000468193] |
Chr12:2512942 [GRCh38] Chr12:2622108 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2333T>C (p.Leu778Pro) |
single nucleotide variant |
Long QT syndrome [RCV000468424] |
Chr12:2584611 [GRCh38] Chr12:2693777 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.132C>T (p.Pro44=) |
single nucleotide variant |
Long QT syndrome [RCV001458566] |
Chr12:2115306 [GRCh38] Chr12:2224472 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348336]|Long QT syndrome [RCV000469712] |
Chr12:2682608 [GRCh38] Chr12:2791774 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374871]|Long QT syndrome [RCV000469758]|not provided [RCV001565391] |
Chr12:2493233 [GRCh38] Chr12:2602399 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.372-9C>G |
single nucleotide variant |
Long QT syndrome [RCV000469947]|not provided [RCV001643186]|not specified [RCV001532922] |
Chr12:2120316 [GRCh38] Chr12:2229482 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn) |
single nucleotide variant |
Long QT syndrome [RCV000470129]|not provided [RCV000786112] |
Chr12:2679489 [GRCh38] Chr12:2788655 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) |
single nucleotide variant |
CACNA1C-related condition [RCV003419790]|Cardiovascular phenotype [RCV002374886]|not provided [RCV000480891] |
Chr12:2493223 [GRCh38] Chr12:2602389 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348254]|Long QT syndrome [RCV000473271]|Primary dilated cardiomyopathy [RCV000852445]|Timothy syndrome [RCV002481357]|not provided [RCV001550202]|not specified [RCV000455282] |
Chr12:2686202 [GRCh38] Chr12:2795368 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3828+6C>T |
single nucleotide variant |
Long QT syndrome [RCV000471379] |
Chr12:2612019 [GRCh38] Chr12:2721185 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1337A>G (p.Asp446Gly) |
single nucleotide variant |
Long QT syndrome [RCV000471632] |
Chr12:2512931 [GRCh38] Chr12:2622097 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323750]|Long QT syndrome [RCV000472011]|See cases [RCV002252135]|Sudden unexplained death [RCV000853469]|Timothy syndrome [RCV000714636]|Timothy syndrome [RCV002481470]|not provided [RCV001770357] |
Chr12:2607105 [GRCh38] Chr12:2716271 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323843]|Long QT syndrome [RCV002525962]|not provided [RCV000485891] |
Chr12:2607032 [GRCh38] Chr12:2716198 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu) |
single nucleotide variant |
Long QT syndrome [RCV000473490]|not provided [RCV000786280] |
Chr12:2610660 [GRCh38] Chr12:2719826 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1839A>C (p.Pro613=) |
single nucleotide variant |
Long QT syndrome [RCV001424681] |
Chr12:2567738 [GRCh38] Chr12:2676904 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6270C>A (p.Pro2090=) |
single nucleotide variant |
Long QT syndrome [RCV001403663] |
Chr12:2691052 [GRCh38] Chr12:2800218 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3558+10dup |
duplication |
Long QT syndrome [RCV001424650] |
Chr12:2608721..2608722 [GRCh38] Chr12:2717887..2717888 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1508+14dup |
duplication |
Long QT syndrome [RCV002526588]|not specified [RCV000481654] |
Chr12:2556990..2556991 [GRCh38] Chr12:2666156..2666157 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1749C>T (p.Tyr583=) |
single nucleotide variant |
Long QT syndrome [RCV001484162] |
Chr12:2567648 [GRCh38] Chr12:2676814 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002318531]|Long QT syndrome [RCV000475012] |
Chr12:2691057 [GRCh38] Chr12:2800223 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2619C>T (p.Pro873=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431380]|Long QT syndrome [RCV000475247] |
Chr12:2593301 [GRCh38] Chr12:2702467 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350041]|Long QT syndrome [RCV000475630]|Timothy syndrome [RCV002489134]|not specified [RCV002282166] |
Chr12:2682598 [GRCh38] Chr12:2791764 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-7G>A |
single nucleotide variant |
Long QT syndrome [RCV001431793] |
Chr12:2651633 [GRCh38] Chr12:2760799 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.714C>G (p.Ala238=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168927]|Long QT syndrome [RCV000476044] |
Chr12:2457663 [GRCh38] Chr12:2566829 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374887]|Long QT syndrome [RCV000814196]|Timothy syndrome [RCV002481502]|not provided [RCV000482096] |
Chr12:2493232 [GRCh38] Chr12:2602398 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446927]|Long QT syndrome [RCV000631685]|Timothy syndrome [RCV002481513]|not provided [RCV000486286] |
Chr12:2585386 [GRCh38] Chr12:2694552 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4389T>C (p.Cys1463=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168926]|Long QT syndrome [RCV000476115] |
Chr12:2664981 [GRCh38] Chr12:2774147 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620141]|History of neurodevelopmental disorder [RCV000717590]|Long QT syndrome [RCV000476193] |
Chr12:2566437 [GRCh38] Chr12:2675603 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp) |
single nucleotide variant |
Long QT syndrome [RCV000477536]|Timothy syndrome [RCV002489083]|not specified [RCV001328352] |
Chr12:2688696 [GRCh38] Chr12:2797862 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4533T>C (p.Arg1511=) |
single nucleotide variant |
Long QT syndrome [RCV000456210] |
Chr12:2666692 [GRCh38] Chr12:2775858 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5957G>A (p.Ser1986Asn) |
single nucleotide variant |
Long QT syndrome [RCV000456475] |
Chr12:2688619 [GRCh38] Chr12:2797785 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5158C>G (p.Gln1720Glu) |
single nucleotide variant |
Long QT syndrome [RCV000456493] |
Chr12:2679510 [GRCh38] Chr12:2788676 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621958]|History of neurodevelopmental disorder [RCV000717582]|Long QT syndrome [RCV000456767]|not provided [RCV001537012]|not specified [RCV001700390] |
Chr12:2493257 [GRCh38] Chr12:2602423 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349978]|Long QT syndrome [RCV000456924]|Timothy syndrome [RCV002481471] |
Chr12:2679763 [GRCh38] Chr12:2788929 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr) |
single nucleotide variant |
not provided [RCV000482795] |
Chr12:2115385 [GRCh38] Chr12:2224551 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe) |
single nucleotide variant |
not provided [RCV000487319] |
Chr12:2651656 [GRCh38] Chr12:2760822 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-10C>G |
single nucleotide variant |
Long QT syndrome [RCV000457567] |
Chr12:2651630 [GRCh38] Chr12:2760796 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.198C>G (p.Gly66=) |
single nucleotide variant |
Long QT syndrome [RCV001480850] |
Chr12:2115372 [GRCh38] Chr12:2224538 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618772]|Long QT syndrome [RCV000457863]|not provided [RCV001672799]|not specified [RCV001700193] |
Chr12:2610636 [GRCh38] Chr12:2719802 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=) |
single nucleotide variant |
Long QT syndrome [RCV000458172]|Timothy syndrome [RCV002489135]|not provided [RCV001672800] |
Chr12:2679629 [GRCh38] Chr12:2788795 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) |
deletion |
Cardiovascular phenotype [RCV000617541]|Long QT syndrome [RCV000458372] |
Chr12:2584593..2584595 [GRCh38] Chr12:2693759..2693761 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374872]|Long QT syndrome [RCV001483269]|not provided [RCV000729434] |
Chr12:2493200 [GRCh38] Chr12:2602366 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.478-6T>G |
single nucleotide variant |
Long QT syndrome [RCV001443003] |
Chr12:2448970 [GRCh38] Chr12:2558136 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1032C>G (p.Thr344=) |
single nucleotide variant |
Long QT syndrome [RCV001431376] |
Chr12:2493305 [GRCh38] Chr12:2602471 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168855]|Long QT syndrome [RCV000459594] |
Chr12:2691032 [GRCh38] Chr12:2800198 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621283]|Long QT syndrome [RCV000531606]|not provided [RCV001675914] |
Chr12:2581647 [GRCh38] Chr12:2690813 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
GRCh37/hg19 12p13.33(chr12:2796406-2844076)x3 |
copy number gain |
See cases [RCV000510537] |
Chr12:2796406..2844076 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3717+1_3717+2insA |
insertion |
not provided [RCV000498202] |
Chr12:2610700..2610701 [GRCh38] Chr12:2719866..2719867 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.1509-12T>G |
single nucleotide variant |
Long QT syndrome [RCV002060088]|not provided [RCV000498274] |
Chr12:2566410 [GRCh38] Chr12:2675576 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3 |
copy number gain |
See cases [RCV000511901] |
Chr12:2245848..3614555 [GRCh37] Chr12:12p13.33-13.32 |
uncertain significance |
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs) |
duplication |
not provided [RCV000494367] |
Chr12:2679497..2679498 [GRCh38] Chr12:2788663..2788664 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser) |
single nucleotide variant |
Long QT syndrome [RCV001227640]|not provided [RCV000494509] |
Chr12:2611909 [GRCh38] Chr12:2721075 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) |
single nucleotide variant |
Long QT syndrome [RCV001206926]|not provided [RCV003456406]|not specified [RCV000506792] |
Chr12:2688681 [GRCh38] Chr12:2797847 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
GRCh37/hg19 12p13.33(chr12:2564298-2674054)x3 |
copy number gain |
See cases [RCV000512035] |
Chr12:2564298..2674054 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 |
copy number gain |
See cases [RCV000511580] |
Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1 |
likely pathogenic |
GRCh37/hg19 12p13.33(chr12:2796406-2854759)x1 |
copy number loss |
See cases [RCV000511631] |
Chr12:2796406..2854759 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_000719.7(CACNA1C):c.4254G>A (p.Trp1418Ter) |
single nucleotide variant |
Long QT syndrome [RCV000496063] |
Chr12:2664846 [GRCh38] Chr12:2774012 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1114-417C>T |
single nucleotide variant |
Long QT syndrome [RCV002066810]|not specified [RCV000601963] |
Chr12:2504425 [GRCh38] Chr12:2613591 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3 |
copy number gain |
See cases [RCV000510945] |
Chr12:2019715..2674054 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 |
copy number gain |
See cases [RCV000510853] |
Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2 |
pathogenic |
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 |
copy number gain |
See cases [RCV000510961] |
Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22 |
pathogenic |
NM_000719.7(CACNA1C):c.456C>T (p.Ser152=) |
single nucleotide variant |
Long QT syndrome [RCV000526357] |
Chr12:2120409 [GRCh38] Chr12:2229575 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367779]|Long QT syndrome [RCV000541940] |
Chr12:2691137 [GRCh38] Chr12:2800303 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1491C>T (p.Ile497=) |
single nucleotide variant |
Long QT syndrome [RCV000542039] |
Chr12:2556960 [GRCh38] Chr12:2666126 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.225A>C (p.Thr75=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448906]|Long QT syndrome [RCV000867240]|not specified [RCV000602968] |
Chr12:2115399 [GRCh38] Chr12:2224565 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.713C>G (p.Ala238Gly) |
single nucleotide variant |
not provided [RCV003318064] |
Chr12:2457662 [GRCh38] Chr12:2566828 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1635C>T (p.His545=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617273]|Long QT syndrome [RCV002531786] |
Chr12:2566548 [GRCh38] Chr12:2675714 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617844]|Long QT syndrome [RCV001320845] |
Chr12:2448980 [GRCh38] Chr12:2558146 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5658T>C (p.Gly1886=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617917]|Long QT syndrome [RCV000874355] |
Chr12:2685820 [GRCh38] Chr12:2794986 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617984]|Long QT syndrome [RCV000688672]|not provided [RCV002261130] |
Chr12:2549987 [GRCh38] Chr12:2659153 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384051]|Long QT syndrome [RCV000554748] |
Chr12:2493226 [GRCh38] Chr12:2602392 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5997C>G (p.Thr1999=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358444]|Long QT syndrome [RCV000557038] |
Chr12:2688659 [GRCh38] Chr12:2797825 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6057C>T (p.Pro2019=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358445]|Long QT syndrome [RCV001444332] |
Chr12:2688719 [GRCh38] Chr12:2797885 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.11:g.(?_2757621)_(2800385_?)dup |
duplication |
Long QT syndrome [RCV000534830] |
Chr12:2757621..2800385 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.232T>A (p.Ser78Thr) |
single nucleotide variant |
Long QT syndrome [RCV000557478] |
Chr12:2115406 [GRCh38] Chr12:2224572 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278879]|Long QT syndrome [RCV000558521]|Timothy syndrome [RCV002490957]|not provided [RCV001811029] |
Chr12:2688701 [GRCh38] Chr12:2797867 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=) |
single nucleotide variant |
not specified [RCV000586844] |
Chr12:2584507 [GRCh38] Chr12:2693673 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.209A>G (p.Asn70Ser) |
single nucleotide variant |
Long QT syndrome [RCV000536581] |
Chr12:2115383 [GRCh38] Chr12:2224549 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343204]|Long QT syndrome [RCV000631551]|Timothy syndrome [RCV000763835]|not provided [RCV001564124]|not specified [RCV001194037] |
Chr12:2679450 [GRCh38] Chr12:2788616 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343205]|Long QT syndrome [RCV000631599] |
Chr12:2682591 [GRCh38] Chr12:2791757 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5110G>A (p.Gly1704Ser) |
single nucleotide variant |
Long QT syndrome [RCV000631633] |
Chr12:2679462 [GRCh38] Chr12:2788628 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4999C>T (p.Arg1667Trp) |
single nucleotide variant |
Long QT syndrome [RCV000631677] |
Chr12:2677775 [GRCh38] Chr12:2786941 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3363G>A (p.Leu1121=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457999]|Long QT syndrome [RCV000631780] |
Chr12:2608517 [GRCh38] Chr12:2717683 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2340-4C>G |
single nucleotide variant |
Long QT syndrome [RCV000631805] |
Chr12:2585372 [GRCh38] Chr12:2694538 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3492C>T (p.Phe1164=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458002]|Long QT syndrome [RCV000631868] |
Chr12:2608646 [GRCh38] Chr12:2717812 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343208]|Long QT syndrome [RCV000631632]|Timothy syndrome [RCV002507062] |
Chr12:2686169 [GRCh38] Chr12:2795335 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg) |
single nucleotide variant |
Long QT syndrome [RCV000631641]|not provided [RCV003389819] |
Chr12:2679636 [GRCh38] Chr12:2788802 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334061]|Long QT syndrome [RCV000631674]|Timothy syndrome [RCV002492955]|Timothy syndrome [RCV003224354] |
Chr12:2679502 [GRCh38] Chr12:2788668 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.162G>A (p.Ala54=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404745]|Long QT syndrome [RCV000631705] |
Chr12:2115336 [GRCh38] Chr12:2224502 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.340C>A (p.Arg114=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162801]|Long QT syndrome [RCV000631825] |
Chr12:2115514 [GRCh38] Chr12:2224680 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.705G>A (p.Ala235=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360512]|Long QT syndrome [RCV000631827] |
Chr12:2457654 [GRCh38] Chr12:2566820 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331113]|Long QT syndrome [RCV001436734] |
Chr12:2664972 [GRCh38] Chr12:2774138 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity |
NM_000719.7(CACNA1C):c.3398G>A (p.Gly1133Asp) |
single nucleotide variant |
Long QT syndrome [RCV000559629] |
Chr12:2608552 [GRCh38] Chr12:2717718 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6006C>T (p.Gly2002=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622215]|Long QT syndrome [RCV000537617] |
Chr12:2688668 [GRCh38] Chr12:2797834 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4757G>A (p.Arg1586Gln) |
single nucleotide variant |
Long QT syndrome [RCV000631575] |
Chr12:2674571 [GRCh38] Chr12:2783737 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2674C>G (p.Gln892Glu) |
single nucleotide variant |
Long QT syndrome [RCV000631586] |
Chr12:2595884 [GRCh38] Chr12:2705050 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1729A>G (p.Ser577Gly) |
single nucleotide variant |
Long QT syndrome [RCV000631597] |
Chr12:2567628 [GRCh38] Chr12:2676794 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile) |
single nucleotide variant |
Long QT syndrome [RCV000631605]|Timothy syndrome [RCV002289920] |
Chr12:2679607 [GRCh38] Chr12:2788773 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2316G>T (p.Glu772Asp) |
single nucleotide variant |
Long QT syndrome [RCV000631606] |
Chr12:2584594 [GRCh38] Chr12:2693760 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343206]|Long QT syndrome [RCV000631620]|Timothy syndrome [RCV002507061] |
Chr12:2679727 [GRCh38] Chr12:2788893 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.1951A>G (p.Ile651Val) |
single nucleotide variant |
Long QT syndrome [RCV000631663] |
Chr12:2581645 [GRCh38] Chr12:2690811 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3717+4A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002343209]|Long QT syndrome [RCV000631692]|Timothy syndrome [RCV002492956] |
Chr12:2610703 [GRCh38] Chr12:2719869 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6254G>A (p.Gly2085Asp) |
single nucleotide variant |
Long QT syndrome [RCV000631704] |
Chr12:2691036 [GRCh38] Chr12:2800202 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5109C>T (p.Phe1703=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343211]|Long QT syndrome [RCV000631735] |
Chr12:2679461 [GRCh38] Chr12:2788627 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.570C>T (p.Tyr190=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343213]|Long QT syndrome [RCV000631781] |
Chr12:2449068 [GRCh38] Chr12:2558234 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2547G>A (p.Glu849=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431863]|Long QT syndrome [RCV000631793] |
Chr12:2593229 [GRCh38] Chr12:2702395 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1983C>T (p.Phe661=) |
single nucleotide variant |
Long QT syndrome [RCV000631865] |
Chr12:2581677 [GRCh38] Chr12:2690843 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1130G>C (p.Gly377Ala) |
single nucleotide variant |
Long QT syndrome [RCV000631553] |
Chr12:2504858 [GRCh38] Chr12:2614024 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358763]|Long QT syndrome [RCV000631562]|not provided [RCV001811123] |
Chr12:2449107 [GRCh38] Chr12:2558273 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3420G>A (p.Val1140=) |
single nucleotide variant |
Long QT syndrome [RCV000631561] |
Chr12:2608574 [GRCh38] Chr12:2717740 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1410G>T (p.Glu470Asp) |
single nucleotide variant |
Long QT syndrome [RCV000631628] |
Chr12:2549962 [GRCh38] Chr12:2659128 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4334C>T (p.Thr1445Ile) |
single nucleotide variant |
Long QT syndrome [RCV000631629] |
Chr12:2664926 [GRCh38] Chr12:2774092 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6026G>A (p.Arg2009Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358766]|Long QT syndrome [RCV000631722] |
Chr12:2688688 [GRCh38] Chr12:2797854 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325213]|Long QT syndrome [RCV001085721]|not provided [RCV000631739]|not specified [RCV001701423] |
Chr12:2651762 [GRCh38] Chr12:2760928 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1479G>A (p.Leu493=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388008]|Long QT syndrome [RCV000631748] |
Chr12:2550031 [GRCh38] Chr12:2659197 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343212]|Long QT syndrome [RCV000631774]|not provided [RCV001675945] |
Chr12:2679698 [GRCh38] Chr12:2788864 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4704G>A (p.Thr1568=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334064]|Long QT syndrome [RCV000631795] |
Chr12:2669013 [GRCh38] Chr12:2778179 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388011]|Long QT syndrome [RCV000631824]|not specified [RCV001805764] |
Chr12:2550019 [GRCh38] Chr12:2659185 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3498C>T (p.Ile1166=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456387]|Long QT syndrome [RCV001469184]|not specified [RCV000603066] |
Chr12:2608652 [GRCh38] Chr12:2717818 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5283C>T (p.Thr1761=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617886]|Long QT syndrome [RCV000867815] |
Chr12:2679635 [GRCh38] Chr12:2788801 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617896] |
Chr12:2665593 [GRCh38] Chr12:2774759 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618992]|Long QT syndrome [RCV001211676] |
Chr12:2688684 [GRCh38] Chr12:2797850 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3216C>A (p.Asn1072Lys) |
single nucleotide variant |
Long QT syndrome [RCV000631569] |
Chr12:2606990 [GRCh38] Chr12:2716156 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002528856]|Long QT syndrome [RCV000631613]|not provided [RCV001766344] |
Chr12:2679516 [GRCh38] Chr12:2788682 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1895+7G>A |
single nucleotide variant |
Long QT syndrome [RCV000631836] |
Chr12:2567801 [GRCh38] Chr12:2676967 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu) |
single nucleotide variant |
CACNA1C-related condition [RCV000626000] |
Chr12:2653847 [GRCh38] Chr12:2763013 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.1704G>A (p.Thr568=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620888]|Long QT syndrome [RCV001855261] |
Chr12:2567603 [GRCh38] Chr12:2676769 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002319542]|Long QT syndrome [RCV000631869]|not provided [RCV001675946] |
Chr12:2605705 [GRCh38] Chr12:2714871 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5250C>T (p.Asp1750=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341265]|Long QT syndrome [RCV000559457] |
Chr12:2679602 [GRCh38] Chr12:2788768 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3157-7C>T |
single nucleotide variant |
Long QT syndrome [RCV000540817]|not provided [RCV001653888]|not specified [RCV002307532] |
Chr12:2606604 [GRCh38] Chr12:2715770 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.6323C>T (p.Ala2108Val) |
single nucleotide variant |
Long QT syndrome [RCV000541000] |
Chr12:2691105 [GRCh38] Chr12:2800271 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617554]|Long QT syndrome [RCV000631714]|Timothy syndrome [RCV002483715]|not provided [RCV001591382] |
Chr12:2567652 [GRCh38] Chr12:2676818 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.371+16C>T |
single nucleotide variant |
Long QT syndrome [RCV002066809]|not specified [RCV000609916] |
Chr12:2115561 [GRCh38] Chr12:2224727 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1356G>A (p.Glu452=) |
single nucleotide variant |
Long QT syndrome [RCV001479844]|not specified [RCV000616004] |
Chr12:2512950 [GRCh38] Chr12:2622116 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3988C>T (p.Leu1330=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377010]|Long QT syndrome [RCV001402287] |
Chr12:2651682 [GRCh38] Chr12:2760848 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_001167623.2(CACNA1C):c.1122C>T (p.Asp374=) |
single nucleotide variant |
Long QT syndrome [RCV002066811]|not specified [RCV000607211] |
Chr12:2504444 [GRCh38] Chr12:2613610 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618475]|Long QT syndrome [RCV000631849]|not provided [RCV003392454] |
Chr12:2679500 [GRCh38] Chr12:2788666 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV000622326]|Timothy syndrome [RCV003152722] |
Chr12:2566522 [GRCh38] Chr12:2675688 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.720C>T (p.Arg240=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618741]|Long QT syndrome [RCV001482627] |
Chr12:2457669 [GRCh38] Chr12:2566835 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.757+14G>A |
single nucleotide variant |
not specified [RCV000601980] |
Chr12:2457720 [GRCh38] Chr12:2566886 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4623+20A>G |
single nucleotide variant |
Long QT syndrome [RCV002532801]|not specified [RCV000616377] |
Chr12:2666802 [GRCh38] Chr12:2775968 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619390]|Long QT syndrome [RCV001860369] |
Chr12:2512927 [GRCh38] Chr12:2622093 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377304]|Long QT syndrome [RCV001496192]|not specified [RCV000607746] |
Chr12:2457621 [GRCh38] Chr12:2566787 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1716C>T (p.Leu572=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404699]|Long QT syndrome [RCV001497079]|not specified [RCV000613249] |
Chr12:2567615 [GRCh38] Chr12:2676781 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4957-12C>T |
single nucleotide variant |
not specified [RCV000616485] |
Chr12:2677721 [GRCh38] Chr12:2786887 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2460+6G>A |
single nucleotide variant |
Long QT syndrome [RCV000533865]|Long qt syndrome 8 [RCV002470905]|not provided [RCV000994772]|not specified [RCV001700403] |
Chr12:2585502 [GRCh38] Chr12:2694668 [GRCh37] Chr12:12p13.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=) |
single nucleotide variant |
Long QT syndrome [RCV001209344]|not specified [RCV000602406] |
Chr12:2593316 [GRCh38] Chr12:2702482 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2331G>A (p.Lys777=) |
single nucleotide variant |
not specified [RCV000616628] |
Chr12:2584609 [GRCh38] Chr12:2693775 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162741]|Long QT syndrome [RCV000866583]|not specified [RCV000613534] |
Chr12:2679578 [GRCh38] Chr12:2788744 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2794-5del |
deletion |
Long QT syndrome [RCV002529753]|not specified [RCV000613651] |
Chr12:2597222 [GRCh38] Chr12:2706388 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3718-14C>G |
single nucleotide variant |
Long QT syndrome [RCV002529755]|not specified [RCV000616772] |
Chr12:2611889 [GRCh38] Chr12:2721055 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5445-17dup |
duplication |
Long QT syndrome [RCV002529584]|not specified [RCV000610880] |
Chr12:2682532..2682533 [GRCh38] Chr12:2791698..2791699 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4448C>A (p.Thr1483Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003272663] |
Chr12:2665630 [GRCh38] Chr12:2774796 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1851C>T (p.Ser617=) |
single nucleotide variant |
Long QT syndrome [RCV001493947]|not specified [RCV000614082] |
Chr12:2567750 [GRCh38] Chr12:2676916 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-292C>G |
single nucleotide variant |
not specified [RCV000608780] |
Chr12:2504550 [GRCh38] Chr12:2613716 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3789C>A (p.Thr1263=) |
single nucleotide variant |
Long QT syndrome [RCV001362528]|not specified [RCV000608809] |
Chr12:2611974 [GRCh38] Chr12:2721140 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3934T>C (p.Ser1312Pro) |
single nucleotide variant |
Long QT syndrome [RCV000536011] |
Chr12:2648496 [GRCh38] Chr12:2757662 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.-28C>T |
single nucleotide variant |
not specified [RCV000614831] |
Chr12:2053535 [GRCh38] Chr12:2162701 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664-11C>G |
single nucleotide variant |
Long QT syndrome [RCV002065231]|not specified [RCV000599662] |
Chr12:2595863 [GRCh38] Chr12:2705029 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2278G>A (p.Glu760Lys) |
single nucleotide variant |
Long QT syndrome [RCV000631600] |
Chr12:2584556 [GRCh38] Chr12:2693722 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343207]|Long QT syndrome [RCV000631624] |
Chr12:2610625 [GRCh38] Chr12:2719791 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4625G>T (p.Arg1542Leu) |
single nucleotide variant |
Long QT syndrome [RCV000631630] |
Chr12:2668934 [GRCh38] Chr12:2778100 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=) |
single nucleotide variant |
Long QT syndrome [RCV000631672]|not provided [RCV001534630] |
Chr12:2585466 [GRCh38] Chr12:2694632 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1669+10G>A |
single nucleotide variant |
Long QT syndrome [RCV000631747]|not provided [RCV001712726]|not specified [RCV001002543] |
Chr12:2566592 [GRCh38] Chr12:2675758 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2339+7C>G |
single nucleotide variant |
Long QT syndrome [RCV000631749] |
Chr12:2584624 [GRCh38] Chr12:2693790 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3459C>T (p.Ile1153=) |
single nucleotide variant |
Long QT syndrome [RCV001432693] |
Chr12:2608613 [GRCh38] Chr12:2717779 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4141-4C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002331112]|Long QT syndrome [RCV000631763] |
Chr12:2655143 [GRCh38] Chr12:2764309 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1734G>C (p.Leu578=) |
single nucleotide variant |
Long QT syndrome [RCV000631769] |
Chr12:2567633 [GRCh38] Chr12:2676799 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3081G>A (p.Arg1027=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002319541]|Long QT syndrome [RCV000631770] |
Chr12:2605711 [GRCh38] Chr12:2714877 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6276C>A (p.Gly2092=) |
single nucleotide variant |
Long QT syndrome [RCV000631796] |
Chr12:2691058 [GRCh38] Chr12:2800224 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1815G>A (p.Leu605=) |
single nucleotide variant |
not specified [RCV000604242] |
Chr12:2567714 [GRCh38] Chr12:2676880 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5905G>A (p.Val1969Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618158]|Long QT syndrome [RCV002531806] |
Chr12:2688567 [GRCh38] Chr12:2797733 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3201G>C (p.Ala1067=) |
single nucleotide variant |
Long QT syndrome [RCV000631843] |
Chr12:2606655 [GRCh38] Chr12:2715821 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:2796406-2851026)x1 |
copy number loss |
See cases [RCV000512611] |
Chr12:2796406..2851026 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4141-20C>A |
single nucleotide variant |
not specified [RCV000604254] |
Chr12:2655127 [GRCh38] Chr12:2764293 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619814]|Long QT syndrome [RCV000546874]|Timothy syndrome [RCV002490959] |
Chr12:2486244 [GRCh38] Chr12:2595410 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=) |
single nucleotide variant |
Long QT syndrome [RCV000631864]|not provided [RCV000829097] |
Chr12:2593247 [GRCh38] Chr12:2702413 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621806]|Long QT syndrome [RCV001347110] |
Chr12:2688489 [GRCh38] Chr12:2797655 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1508+20C>T |
single nucleotide variant |
Long QT syndrome [RCV002063270]|not specified [RCV000600408] |
Chr12:2556997 [GRCh38] Chr12:2666163 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622139]|Long QT syndrome [RCV001855273] |
Chr12:2679793 [GRCh38] Chr12:2788959 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420292]|Long QT syndrome [RCV001424367]|not provided [RCV000513485] |
Chr12:2486138 [GRCh38] Chr12:2595304 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.1481+16G>A |
single nucleotide variant |
Long QT syndrome [RCV002528798]|not specified [RCV000606442] |
Chr12:2550049 [GRCh38] Chr12:2659215 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp) |
single nucleotide variant |
not provided [RCV000658315] |
Chr12:2608511 [GRCh38] Chr12:2717677 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2975A>G (p.Asn992Ser) |
single nucleotide variant |
not provided [RCV000658245] |
Chr12:2605095 [GRCh38] Chr12:2714261 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met) |
single nucleotide variant |
Long QT syndrome [RCV001855364]|not provided [RCV000658096] |
Chr12:2601935 [GRCh38] Chr12:2711101 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303089]|Long QT syndrome [RCV000697997]|not provided [RCV000658225] |
Chr12:2493370 [GRCh38] Chr12:2602536 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397432]|Long QT syndrome [RCV000697941] |
Chr12:2566562 [GRCh38] Chr12:2675728 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343527]|Long QT syndrome [RCV000700725]|Timothy syndrome [RCV001291697] |
Chr12:2679577 [GRCh38] Chr12:2788743 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5657G>C (p.Gly1886Ala) |
single nucleotide variant |
Long QT syndrome [RCV000686704] |
Chr12:2685819 [GRCh38] Chr12:2794985 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:173786-2793493)x1 |
copy number loss |
not provided [RCV000683468] |
Chr12:173786..2793493 [GRCh37] Chr12:12p13.33 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 |
copy number gain |
not provided [RCV000683478] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
not provided [RCV000683479] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) |
single nucleotide variant |
Congenital long QT syndrome [RCV002272326]|Long QT syndrome [RCV001302393]|Timothy syndrome [RCV000678930] |
Chr12:2581611 [GRCh38] Chr12:2690777 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3 |
copy number gain |
not provided [RCV000683424] |
Chr12:2387098..2740808 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1 |
copy number loss |
not provided [RCV000683471] |
Chr12:173786..4105910 [GRCh37] Chr12:12p13.33-13.32 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 |
copy number loss |
not provided [RCV000683474] |
Chr12:173786..5952112 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 |
copy number gain |
not provided [RCV000683477] |
Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 |
copy number loss |
not provided [RCV000683476] |
Chr12:173786..6201932 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33(chr12:2235940-2382140)x1 |
copy number loss |
not provided [RCV000683398] |
Chr12:2235940..2382140 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 |
copy number gain |
not provided [RCV000683480] |
Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 |
copy number loss |
not provided [RCV000683475] |
Chr12:173786..6039841 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.3510G>A (p.Gln1170=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458289]|Long QT syndrome [RCV000702597] |
Chr12:2608664 [GRCh38] Chr12:2717830 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360798]|Long QT syndrome [RCV000701466]|Timothy syndrome [RCV002477615] |
Chr12:2115239 [GRCh38] Chr12:2224405 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1722G>T (p.Lys574Asn) |
single nucleotide variant |
Long QT syndrome [RCV000706690] |
Chr12:2567621 [GRCh38] Chr12:2676787 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6087C>T (p.Phe2029=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002314599]|Long QT syndrome [RCV002060916] |
Chr12:2688749 [GRCh38] Chr12:2797915 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6260_6280del (p.Pro2087_Ala2093del) |
deletion |
Long QT syndrome [RCV000695086] |
Chr12:2691035..2691055 [GRCh38] Chr12:2800201..2800221 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4563C>T (p.Leu1521=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002314408] |
Chr12:2666722 [GRCh38] Chr12:2775888 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2550G>C (p.Glu850Asp) |
single nucleotide variant |
Long QT syndrome [RCV000691118] |
Chr12:2593232 [GRCh38] Chr12:2702398 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360826]|Long QT syndrome [RCV000705548] |
Chr12:2691150 [GRCh38] Chr12:2800316 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2635G>A (p.Ala879Thr) |
single nucleotide variant |
Long QT syndrome [RCV000705670] |
Chr12:2593317 [GRCh38] Chr12:2702483 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr) |
single nucleotide variant |
Amyloidosis [RCV000852664]|Long QT syndrome [RCV000689099] |
Chr12:2664928 [GRCh38] Chr12:2774094 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002440468]|Long QT syndrome [RCV000694281]|Timothy syndrome [RCV002493190] |
Chr12:2597260 [GRCh38] Chr12:2706426 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5084T>C (p.Ile1695Thr) |
single nucleotide variant |
Long QT syndrome [RCV000689272] |
Chr12:2677860 [GRCh38] Chr12:2787026 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2438G>A (p.Gly813Glu) |
single nucleotide variant |
Long QT syndrome [RCV000686327] |
Chr12:2585474 [GRCh38] Chr12:2694640 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6140G>A (p.Gly2047Glu) |
single nucleotide variant |
Long QT syndrome [RCV000692490] |
Chr12:2690922 [GRCh38] Chr12:2800088 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) |
microsatellite |
Cardiovascular phenotype [RCV002442527]|Long QT syndrome [RCV000704045]|Timothy syndrome [RCV002493236] |
Chr12:2585435..2585437 [GRCh38] Chr12:2694601..2694603 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5339G>T (p.Arg1780Leu) |
single nucleotide variant |
Long QT syndrome [RCV000697581] |
Chr12:2679691 [GRCh38] Chr12:2788857 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6235G>A (p.Asp2079Asn) |
single nucleotide variant |
Long QT syndrome [RCV000704339] |
Chr12:2691017 [GRCh38] Chr12:2800183 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388336]|Long QT syndrome [RCV000704347] |
Chr12:2566423 [GRCh38] Chr12:2675589 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4565G>A (p.Arg1522Gln) |
single nucleotide variant |
Long QT syndrome [RCV000695421] |
Chr12:2666724 [GRCh38] Chr12:2775890 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362903]|Long QT syndrome [RCV000695838]|Timothy syndrome [RCV002485688] |
Chr12:2606615 [GRCh38] Chr12:2715781 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3210-3C>T |
single nucleotide variant |
Long QT syndrome [RCV000688582] |
Chr12:2606981 [GRCh38] Chr12:2716147 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388338]|Long QT syndrome [RCV000705038]|not provided [RCV001811454] |
Chr12:2550029 [GRCh38] Chr12:2659195 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6308C>T (p.Ala2103Val) |
single nucleotide variant |
Long QT syndrome [RCV000705058] |
Chr12:2691090 [GRCh38] Chr12:2800256 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2633G>T (p.Ser878Ile) |
single nucleotide variant |
Long QT syndrome [RCV000705143] |
Chr12:2593315 [GRCh38] Chr12:2702481 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2764C>G (p.Pro922Ala) |
single nucleotide variant |
Long QT syndrome [RCV000695849] |
Chr12:2595974 [GRCh38] Chr12:2705140 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5648C>T (p.Pro1883Leu) |
single nucleotide variant |
Long QT syndrome [RCV000705200] |
Chr12:2685810 [GRCh38] Chr12:2794976 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2793T>G (p.His931Gln) |
single nucleotide variant |
Long QT syndrome [RCV000697762] |
Chr12:2596003 [GRCh38] Chr12:2705169 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360789]|Long QT syndrome [RCV000699444] |
Chr12:2691126 [GRCh38] Chr12:2800292 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=) |
single nucleotide variant |
CACNA1C-related condition [RCV003411592]|Cardiovascular phenotype [RCV003303108]|Long QT syndrome [RCV000685654] |
Chr12:2120400 [GRCh38] Chr12:2229566 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4369A>T (p.Ile1457Phe) |
single nucleotide variant |
Long QT syndrome [RCV000705865] |
Chr12:2664961 [GRCh38] Chr12:2774127 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442478]|Long QT syndrome [RCV000696793]|not specified [RCV001256729] |
Chr12:2504854 [GRCh38] Chr12:2614020 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424628]|Long QT syndrome [RCV000691780]|Timothy syndrome [RCV002265861] |
Chr12:2585860 [GRCh38] Chr12:2695026 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3824C>T (p.Pro1275Leu) |
single nucleotide variant |
Long QT syndrome [RCV000694419] |
Chr12:2612009 [GRCh38] Chr12:2721175 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4625G>A (p.Arg1542His) |
single nucleotide variant |
Long QT syndrome [RCV000697181] |
Chr12:2668934 [GRCh38] Chr12:2778100 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4165G>T (p.Asp1389Tyr) |
single nucleotide variant |
Long QT syndrome [RCV000706353] |
Chr12:2655171 [GRCh38] Chr12:2764337 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3559-259C>T |
single nucleotide variant |
not provided [RCV001547139] |
Chr12:2610282 [GRCh38] Chr12:2719448 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.618-69A>C |
single nucleotide variant |
not provided [RCV001575221] |
Chr12:2457498 [GRCh38] Chr12:2566664 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002312753]|Long QT syndrome [RCV001862019] |
Chr12:2688730 [GRCh38] Chr12:2797896 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002313540] |
Chr12:2674633 [GRCh38] Chr12:2783799 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002313651]|Long QT syndrome [RCV001446968]|not provided [RCV000840984] |
Chr12:2567585 [GRCh38] Chr12:2676751 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002313513]|Long QT syndrome [RCV001862037] |
Chr12:2567751 [GRCh38] Chr12:2676917 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) |
deletion |
Cardiovascular phenotype [RCV002313637] |
Chr12:2688722..2688727 [GRCh38] Chr12:2797888..2797893 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3372C>T (p.Ser1124=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002317997]|Long QT syndrome [RCV002534581] |
Chr12:2608526 [GRCh38] Chr12:2717692 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2412T>A (p.Ile804=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002318052] |
Chr12:2585448 [GRCh38] Chr12:2694614 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1782C>T (p.Phe594=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002313545]|Long QT syndrome [RCV000872975] |
Chr12:2567681 [GRCh38] Chr12:2676847 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3789C>T (p.Thr1263=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002315461]|Long QT syndrome [RCV001395051] |
Chr12:2611974 [GRCh38] Chr12:2721140 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002317477]|Long QT syndrome [RCV001346445] |
Chr12:2607008 [GRCh38] Chr12:2716174 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002317459]|Long QT syndrome [RCV001862071] |
Chr12:2549966 [GRCh38] Chr12:2659132 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002317471]|Long QT syndrome [RCV001366388] |
Chr12:2679660 [GRCh38] Chr12:2788826 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.917-49C>G |
single nucleotide variant |
not provided [RCV001539772] |
Chr12:2493141 [GRCh38] Chr12:2602307 [GRCh37] Chr12:12p13.33 |
benign |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33(chr12:2198588-2255327)x1 |
copy number loss |
not provided [RCV000737737] |
Chr12:2198588..2255327 [GRCh37] Chr12:12p13.33 |
benign |
GRCh37/hg19 12p13.33(chr12:2198827-2216588)x1 |
copy number loss |
not provided [RCV000737738] |
Chr12:2198827..2216588 [GRCh37] Chr12:12p13.33 |
benign |
GRCh37/hg19 12p13.33(chr12:2245636-2269588)x1 |
copy number loss |
not provided [RCV000737739] |
Chr12:2245636..2269588 [GRCh37] Chr12:12p13.33 |
benign |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NC_000012.12:g.(?_2687956)_(2741851_?)del |
deletion |
Schizophrenia [RCV000754139] |
Chr12:2687956..2741851 [GRCh38] Chr12:12p13.33 |
likely pathogenic |
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 |
copy number gain |
not provided [RCV000750245] |
Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21 |
pathogenic |
NM_000719.7(CACNA1C):c.478-202del |
deletion |
not provided [RCV001645777] |
Chr12:2448764 [GRCh38] Chr12:2557930 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4726+10C>T |
single nucleotide variant |
not provided [RCV000895881] |
Chr12:2669045 [GRCh38] Chr12:2778211 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444954]|Long QT syndrome [RCV000874777]|not provided [RCV003392660] |
Chr12:2585487 [GRCh38] Chr12:2694653 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4233-129T>G |
single nucleotide variant |
Long QT syndrome [RCV000860300]|not provided [RCV001712794] |
Chr12:2664696 [GRCh38] Chr12:2773862 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2553A>G (p.Pro851=) |
single nucleotide variant |
Long QT syndrome [RCV001495800] |
Chr12:2593235 [GRCh38] Chr12:2702401 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) |
single nucleotide variant |
not provided [RCV001702021] |
Chr12:2691084 [GRCh38] Chr12:2800250 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4140+77G>T |
single nucleotide variant |
Long QT syndrome [RCV000860571]|not provided [RCV001585798] |
Chr12:2653977 [GRCh38] Chr12:2763143 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=) |
single nucleotide variant |
Long QT syndrome [RCV002072979]|not provided [RCV001647791] |
Chr12:2679575 [GRCh38] Chr12:2788741 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1482-264C>T |
single nucleotide variant |
Long QT syndrome [RCV000860692] |
Chr12:2556687 [GRCh38] Chr12:2665853 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3157-175C>T |
single nucleotide variant |
Long QT syndrome [RCV000860693]|not provided [RCV001585799] |
Chr12:2606436 [GRCh38] Chr12:2715602 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5904C>T (p.Pro1968=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359216]|not provided [RCV001667820] |
Chr12:2688566 [GRCh38] Chr12:2797732 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser) |
single nucleotide variant |
Long QT syndrome [RCV001866183]|not provided [RCV001585246] |
Chr12:2679514 [GRCh38] Chr12:2788680 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.917-57G>A |
single nucleotide variant |
not provided [RCV001546671] |
Chr12:2493133 [GRCh38] Chr12:2602299 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4232+302C>T |
single nucleotide variant |
Long QT syndrome [RCV000860962] |
Chr12:2655540 [GRCh38] Chr12:2764706 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3945+37G>A |
single nucleotide variant |
not provided [RCV001574908] |
Chr12:2648544 [GRCh38] Chr12:2757710 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.*33dup |
duplication |
not provided [RCV001610855] |
Chr12:2691229..2691230 [GRCh38] Chr12:2800395..2800396 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5573+202CA[6] |
microsatellite |
not provided [RCV001610985] |
Chr12:2682880..2682881 [GRCh38] Chr12:2792046..2792047 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4727-61G>A |
single nucleotide variant |
not provided [RCV000994773] |
Chr12:2674480 [GRCh38] Chr12:2783646 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp) |
single nucleotide variant |
not provided [RCV000994778] |
Chr12:2691053 [GRCh38] Chr12:2800219 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5382C>A (p.His1794Gln) |
single nucleotide variant |
Long QT syndrome [RCV001046194] |
Chr12:2679734 [GRCh38] Chr12:2788900 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) |
single nucleotide variant |
Timothy syndrome [RCV000790446]|not provided [RCV001093114] |
Chr12:2584547 [GRCh38] Chr12:2693713 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4074+33del |
deletion |
Timothy syndrome [RCV001554540]|not provided [RCV001673210] |
Chr12:2651800 [GRCh38] Chr12:2760966 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5444+47C>A |
single nucleotide variant |
not provided [RCV001551223] |
Chr12:2679843 [GRCh38] Chr12:2789009 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_152640.5(DCP1B):c.294T>G (p.Pro98=) |
single nucleotide variant |
not provided [RCV003312216] |
Chr12:1993289 [GRCh38] Chr12:2102455 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys) |
single nucleotide variant |
not provided [RCV003312217] |
Chr12:2566543 [GRCh38] Chr12:2675709 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2575C>T (p.Pro859Ser) |
single nucleotide variant |
not provided [RCV001570438] |
Chr12:2593257 [GRCh38] Chr12:2702423 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.916+65C>T |
single nucleotide variant |
not provided [RCV001582048] |
Chr12:2486327 [GRCh38] Chr12:2595493 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.372-171C>T |
single nucleotide variant |
not provided [RCV001570805] |
Chr12:2120154 [GRCh38] Chr12:2229320 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+227TG[18] |
microsatellite |
not provided [RCV001586281] |
Chr12:2120657..2120660 [GRCh38] Chr12:2229823..2229826 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4024C>T (p.Arg1342Cys) |
single nucleotide variant |
Long QT syndrome [RCV001067987] |
Chr12:2651718 [GRCh38] Chr12:2760884 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5444+1087C>T |
single nucleotide variant |
Long QT syndrome [RCV000868629] |
Chr12:2680883 [GRCh38] Chr12:2790049 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3558+314A>G |
single nucleotide variant |
Long QT syndrome [RCV000867430] |
Chr12:2609026 [GRCh38] Chr12:2718192 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.549C>T (p.Leu183=) |
single nucleotide variant |
not provided [RCV000868270] |
Chr12:2449047 [GRCh38] Chr12:2558213 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3660C>T (p.Tyr1220=) |
single nucleotide variant |
Long QT syndrome [RCV001406011] |
Chr12:2610642 [GRCh38] Chr12:2719808 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-85C>A |
single nucleotide variant |
Long QT syndrome [RCV000900680] |
Chr12:2634212 [GRCh38] Chr12:2743378 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399899]|Long QT syndrome [RCV000866696]|not provided [RCV001619850] |
Chr12:2566470 [GRCh38] Chr12:2675636 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5928G>C (p.Gly1976=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352520]|Long QT syndrome [RCV001475006] |
Chr12:2688590 [GRCh38] Chr12:2797756 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5733G>A (p.Gly1911=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345976]|Long QT syndrome [RCV001401395] |
Chr12:2686218 [GRCh38] Chr12:2795384 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1669+7G>A |
single nucleotide variant |
Long QT syndrome [RCV001401829] |
Chr12:2566589 [GRCh38] Chr12:2675755 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3903C>T (p.Thr1301=) |
single nucleotide variant |
not provided [RCV000936516] |
Chr12:2634371 [GRCh38] Chr12:2743537 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1098G>A (p.Thr366=) |
single nucleotide variant |
Long QT syndrome [RCV001444409] |
Chr12:2493371 [GRCh38] Chr12:2602537 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.35A>T (p.Glu12Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453951]|Long QT syndrome [RCV000864687] |
Chr12:2053597 [GRCh38] Chr12:2162763 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3522G>A (p.Glu1174=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453994]|Long QT syndrome [RCV000869398] |
Chr12:2608676 [GRCh38] Chr12:2717842 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6324C>T (p.Ala2108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363303]|Long QT syndrome [RCV002064826] |
Chr12:2691106 [GRCh38] Chr12:2800272 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409229]|Long QT syndrome [RCV000936724]|not provided [RCV001615081] |
Chr12:2512845 [GRCh38] Chr12:2622011 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5592C>T (p.Asp1864=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346100]|Long QT syndrome [RCV000928686] |
Chr12:2685754 [GRCh38] Chr12:2794920 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.282C>T (p.Ser94=) |
single nucleotide variant |
Long QT syndrome [RCV000870434] |
Chr12:2115456 [GRCh38] Chr12:2224622 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.241C>A (p.Arg81=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453982]|Long QT syndrome [RCV000867853] |
Chr12:2115415 [GRCh38] Chr12:2224581 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2022A>G (p.Gly674=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416029]|Long QT syndrome [RCV001436229] |
Chr12:2581716 [GRCh38] Chr12:2690882 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2103+8C>T |
single nucleotide variant |
Long QT syndrome [RCV000868674] |
Chr12:2581805 [GRCh38] Chr12:2690971 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4956+8C>T |
single nucleotide variant |
Long QT syndrome [RCV000865741] |
Chr12:2677229 [GRCh38] Chr12:2786395 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-428C>T |
single nucleotide variant |
Long QT syndrome [RCV000983342] |
Chr12:2633869 [GRCh38] Chr12:2743035 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.687C>T (p.Ala229=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372433]|Long QT syndrome [RCV000867094] |
Chr12:2457636 [GRCh38] Chr12:2566802 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2663+9C>T |
single nucleotide variant |
Long QT syndrome [RCV001448821] |
Chr12:2593354 [GRCh38] Chr12:2702520 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2937G>T (p.Val979=) |
single nucleotide variant |
Long QT syndrome [RCV001456882] |
Chr12:2601937 [GRCh38] Chr12:2711103 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3687C>A (p.Ile1229=) |
single nucleotide variant |
Long QT syndrome [RCV001404645] |
Chr12:2610669 [GRCh38] Chr12:2719835 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4074+7G>A |
single nucleotide variant |
Long QT syndrome [RCV000865363] |
Chr12:2651775 [GRCh38] Chr12:2760941 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+7C>T |
single nucleotide variant |
Long QT syndrome [RCV001431978] |
Chr12:2584624 [GRCh38] Chr12:2693790 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1481+897C>G |
single nucleotide variant |
Long QT syndrome [RCV000942909] |
Chr12:2550930 [GRCh38] Chr12:2660096 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1481+777C>A |
single nucleotide variant |
Long QT syndrome [RCV000943151] |
Chr12:2550810 [GRCh38] Chr12:2659976 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3356+561C>A |
single nucleotide variant |
Long QT syndrome [RCV000943229] |
Chr12:2607691 [GRCh38] Chr12:2716857 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4141-5C>T |
single nucleotide variant |
Long QT syndrome [RCV000982326] |
Chr12:2655142 [GRCh38] Chr12:2764308 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3663C>T (p.Phe1221=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453989]|Long QT syndrome [RCV001441647] |
Chr12:2610645 [GRCh38] Chr12:2719811 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5610G>A (p.Thr1870=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345958]|Long QT syndrome [RCV001501272] |
Chr12:2685772 [GRCh38] Chr12:2794938 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.798C>T (p.Val266=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409043]|Long QT syndrome [RCV000866260] |
Chr12:2486144 [GRCh38] Chr12:2595310 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399910]|Long QT syndrome [RCV001480816]|not provided [RCV003392649] |
Chr12:2115342 [GRCh38] Chr12:2224508 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4956+10T>G |
single nucleotide variant |
Long QT syndrome [RCV001414444] |
Chr12:2677231 [GRCh38] Chr12:2786397 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 |
copy number gain |
not provided [RCV001006470] |
Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
NM_000719.7(CACNA1C):c.2559G>A (p.Met853Ile) |
single nucleotide variant |
Long QT syndrome [RCV001051450] |
Chr12:2593241 [GRCh38] Chr12:2702407 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5386C>A (p.Pro1796Thr) |
single nucleotide variant |
Long QT syndrome [RCV001043165] |
Chr12:2679738 [GRCh38] Chr12:2788904 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1 |
copy number loss |
not provided [RCV000995024] |
Chr12:2162777..2800066 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1218-8C>G |
single nucleotide variant |
Long QT syndrome [RCV001043271] |
Chr12:2512804 [GRCh38] Chr12:2621970 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2557A>G (p.Met853Val) |
single nucleotide variant |
Long QT syndrome [RCV001061801] |
Chr12:2593239 [GRCh38] Chr12:2702405 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn) |
single nucleotide variant |
Brugada syndrome 3 [RCV001332565]|Long QT syndrome [RCV001061899] |
Chr12:2115374 [GRCh38] Chr12:2224540 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.541T>C (p.Tyr181His) |
single nucleotide variant |
Long QT syndrome [RCV001053185] |
Chr12:2449039 [GRCh38] Chr12:2558205 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327321]|Long QT syndrome [RCV001056207] |
Chr12:2664941 [GRCh38] Chr12:2774107 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg) |
single nucleotide variant |
Long QT syndrome [RCV001051169]|Timothy syndrome [RCV002497401] |
Chr12:2688562 [GRCh38] Chr12:2797728 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu) |
single nucleotide variant |
Cerebral palsy [RCV001796345]|Long QT syndrome [RCV001037547] |
Chr12:2610550 [GRCh38] Chr12:2719716 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.2314G>A (p.Glu772Lys) |
single nucleotide variant |
Long QT syndrome [RCV001042833] |
Chr12:2584592 [GRCh38] Chr12:2693758 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4432A>C (p.Asn1478His) |
single nucleotide variant |
Long QT syndrome [RCV001070226] |
Chr12:2665614 [GRCh38] Chr12:2774780 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2804del (p.Tyr935fs) |
deletion |
Long QT syndrome [RCV001050292] |
Chr12:2597240 [GRCh38] Chr12:2706406 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5188A>G (p.Ile1730Val) |
single nucleotide variant |
Long QT syndrome [RCV001037326] |
Chr12:2679540 [GRCh38] Chr12:2788706 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.138G>A (p.Pro46=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393268]|Long QT syndrome [RCV001052765] |
Chr12:2115312 [GRCh38] Chr12:2224478 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NC_000012.12:g.(?_1909906)_(2556977_?)dup |
duplication |
not provided [RCV001033618] |
Chr12:2019072..2666143 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346245]|Long QT syndrome [RCV001036498] |
Chr12:2679699 [GRCh38] Chr12:2788865 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) |
copy number gain |
not provided [RCV000767817] |
Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) |
copy number gain |
not provided [RCV000767818] |
Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) |
copy number gain |
not provided [RCV000767819] |
Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.5145G>A (p.Arg1715=) |
single nucleotide variant |
not specified [RCV000780075] |
Chr12:2679497 [GRCh38] Chr12:2788663 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352295]|Long QT syndrome [RCV001471315]|not specified [RCV000780076] |
Chr12:2688545 [GRCh38] Chr12:2797711 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334453]|Long QT syndrome [RCV001423164]|not specified [RCV000780077] |
Chr12:2674596 [GRCh38] Chr12:2783762 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386361]|Long QT syndrome [RCV001491316]|not provided [RCV003326494]|not specified [RCV000780078] |
Chr12:2493263 [GRCh38] Chr12:2602429 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser) |
single nucleotide variant |
Long QT syndrome [RCV000791607]|Timothy syndrome [RCV002487630] |
Chr12:2686226 [GRCh38] Chr12:2795392 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) |
single nucleotide variant |
Timothy syndrome [RCV000790445] |
Chr12:2549964 [GRCh38] Chr12:2659130 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.910A>G (p.Ile304Val) |
single nucleotide variant |
Long QT syndrome [RCV000808928] |
Chr12:2486256 [GRCh38] Chr12:2595422 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6354C>T (p.Arg2118=) |
single nucleotide variant |
Long QT syndrome [RCV000868515] |
Chr12:2691136 [GRCh38] Chr12:2800302 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5997C>T (p.Thr1999=) |
single nucleotide variant |
Long QT syndrome [RCV001478654] |
Chr12:2688659 [GRCh38] Chr12:2797825 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.50-162C>G |
single nucleotide variant |
Long QT syndrome [RCV000860298] |
Chr12:2115062 [GRCh38] Chr12:2224228 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4957-222G>C |
single nucleotide variant |
Long QT syndrome [RCV000860303]|not provided [RCV001644842] |
Chr12:2677511 [GRCh38] Chr12:2786677 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3157-328G>T |
single nucleotide variant |
Long QT syndrome [RCV000860350] |
Chr12:2606283 [GRCh38] Chr12:2715449 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1114-577G>A |
single nucleotide variant |
Long QT syndrome [RCV000860823]|not provided [RCV001692294] |
Chr12:2504265 [GRCh38] Chr12:2613431 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1390+104C>T |
single nucleotide variant |
Long QT syndrome [RCV000860413] |
Chr12:2513088 [GRCh38] Chr12:2622254 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4141-321A>G |
single nucleotide variant |
Long QT syndrome [RCV000860434] |
Chr12:2654826 [GRCh38] Chr12:2763992 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5574-174T>C |
single nucleotide variant |
Long QT syndrome [RCV000860490]|not provided [RCV001683669] |
Chr12:2685562 [GRCh38] Chr12:2794728 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1113+186C>T |
single nucleotide variant |
Long QT syndrome [RCV000860499]|not provided [RCV001637995] |
Chr12:2493572 [GRCh38] Chr12:2602738 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2530+247T>C |
single nucleotide variant |
Long QT syndrome [RCV000860503]|not provided [RCV001712797] |
Chr12:2586151 [GRCh38] Chr12:2695317 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4957-207C>T |
single nucleotide variant |
Long QT syndrome [RCV000860506]|not provided [RCV001664486] |
Chr12:2677526 [GRCh38] Chr12:2786692 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2340-72G>A |
single nucleotide variant |
Long QT syndrome [RCV000860536]|not provided [RCV001672961] |
Chr12:2585304 [GRCh38] Chr12:2694470 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2531-187C>T |
single nucleotide variant |
Long QT syndrome [RCV000860584] |
Chr12:2593026 [GRCh38] Chr12:2702192 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4624-47A>G |
single nucleotide variant |
Long QT syndrome [RCV000861444] |
Chr12:2668886 [GRCh38] Chr12:2778052 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3072C>T (p.Val1024=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002319596]|Long QT syndrome [RCV001459429] |
Chr12:2605702 [GRCh38] Chr12:2714868 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.49+7C>G |
single nucleotide variant |
Long QT syndrome [RCV001466605] |
Chr12:2053618 [GRCh38] Chr12:2162784 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.372-23A>G |
single nucleotide variant |
Long QT syndrome [RCV000860586] |
Chr12:2120302 [GRCh38] Chr12:2229468 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1113+7A>G |
single nucleotide variant |
Long QT syndrome [RCV001515449] |
Chr12:2493393 [GRCh38] Chr12:2602559 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3357-517T>C |
single nucleotide variant |
Long QT syndrome [RCV000942910] |
Chr12:2607994 [GRCh38] Chr12:2717160 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3930A>G (p.Gln1310=) |
single nucleotide variant |
Long QT syndrome [RCV001410425] |
Chr12:2648492 [GRCh38] Chr12:2757658 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1481+423G>A |
single nucleotide variant |
Long QT syndrome [RCV000942917] |
Chr12:2550456 [GRCh38] Chr12:2659622 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1481+727C>T |
single nucleotide variant |
Long QT syndrome [RCV000942918] |
Chr12:2550760 [GRCh38] Chr12:2659926 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4068C>A (p.Ser1356=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320192]|Long QT syndrome [RCV001462726] |
Chr12:2651762 [GRCh38] Chr12:2760928 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5598T>C (p.Asn1866=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346030]|Long QT syndrome [RCV001415688] |
Chr12:2685760 [GRCh38] Chr12:2794926 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+189A>G |
single nucleotide variant |
Long QT syndrome [RCV000868609]|not provided [RCV001593083] |
Chr12:2597478 [GRCh38] Chr12:2706644 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+116590T>C |
single nucleotide variant |
Long QT syndrome [RCV000940510] |
Chr12:2237020 [GRCh38] Chr12:2346186 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345944]|Long QT syndrome [RCV000861862]|not provided [RCV003389833] |
Chr12:2679734 [GRCh38] Chr12:2788900 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2530+10C>T |
single nucleotide variant |
Long QT syndrome [RCV001397595] |
Chr12:2585914 [GRCh38] Chr12:2695080 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-152A>C |
single nucleotide variant |
Long QT syndrome [RCV000981184] |
Chr12:2634145 [GRCh38] Chr12:2743311 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.916+63C>T |
single nucleotide variant |
Long QT syndrome [RCV000860497]|not provided [RCV001585797] |
Chr12:2486325 [GRCh38] Chr12:2595491 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.371+230A>C |
single nucleotide variant |
Long QT syndrome [RCV000860630]|not provided [RCV001547243] |
Chr12:2115775 [GRCh38] Chr12:2224941 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3913-300T>C |
single nucleotide variant |
Long QT syndrome [RCV000860631]|not provided [RCV001593063] |
Chr12:2648175 [GRCh38] Chr12:2757341 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1895+85G>A |
single nucleotide variant |
Long QT syndrome [RCV000860733] |
Chr12:2567879 [GRCh38] Chr12:2677045 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.372-305T>C |
single nucleotide variant |
Long QT syndrome [RCV000861987] |
Chr12:2120020 [GRCh38] Chr12:2229186 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.669T>C (p.Ala223=) |
single nucleotide variant |
Long QT syndrome [RCV001477356] |
Chr12:2457618 [GRCh38] Chr12:2566784 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3913-6516G>A |
single nucleotide variant |
Long QT syndrome [RCV000943206] |
Chr12:2641959 [GRCh38] Chr12:2751125 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4899G>A (p.Lys1633=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336772]|Long QT syndrome [RCV000864780] |
Chr12:2677164 [GRCh38] Chr12:2786330 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1391-2222T>G |
single nucleotide variant |
Long QT syndrome [RCV000942908] |
Chr12:2547721 [GRCh38] Chr12:2656887 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2664-170T>A |
single nucleotide variant |
Long QT syndrome [RCV000863335] |
Chr12:2595704 [GRCh38] Chr12:2704870 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6267C>T (p.Ser2089=) |
single nucleotide variant |
Long QT syndrome [RCV002539186] |
Chr12:2691049 [GRCh38] Chr12:2800215 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+116658G>A |
single nucleotide variant |
Long QT syndrome [RCV000918964] |
Chr12:2237088 [GRCh38] Chr12:2346254 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.859T>C (p.Leu287=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444953]|Long QT syndrome [RCV000874713] |
Chr12:2486205 [GRCh38] Chr12:2595371 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3225G>A (p.Thr1075=) |
single nucleotide variant |
Long QT syndrome [RCV001482264] |
Chr12:2606999 [GRCh38] Chr12:2716165 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3913-7020C>T |
single nucleotide variant |
Long QT syndrome [RCV000977345] |
Chr12:2641455 [GRCh38] Chr12:2750621 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2793+7A>G |
single nucleotide variant |
Long QT syndrome [RCV000874810] |
Chr12:2596010 [GRCh38] Chr12:2705176 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6411C>T (p.Ser2137=) |
single nucleotide variant |
not provided [RCV000896929] |
Chr12:2691193 [GRCh38] Chr12:2800359 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1785C>T (p.Val595=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003307610]|Long QT syndrome [RCV000866568] |
Chr12:2567684 [GRCh38] Chr12:2676850 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5862_5873del (p.Pro1956_Pro1959del) |
deletion |
Long QT syndrome [RCV000872194] |
Chr12:2688519..2688530 [GRCh38] Chr12:2797685..2797696 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5784+8A>C |
single nucleotide variant |
Long QT syndrome [RCV000916673] |
Chr12:2686277 [GRCh38] Chr12:2795443 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3157-51T>C |
single nucleotide variant |
Long QT syndrome [RCV000861257]|not provided [RCV001585804] |
Chr12:2606560 [GRCh38] Chr12:2715726 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3209+112G>A |
single nucleotide variant |
Long QT syndrome [RCV000861258]|not provided [RCV001571978] |
Chr12:2606775 [GRCh38] Chr12:2715941 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3828+177G>A |
single nucleotide variant |
Long QT syndrome [RCV000861259]|not provided [RCV001593066] |
Chr12:2612190 [GRCh38] Chr12:2721356 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2854-333C>T |
single nucleotide variant |
Long QT syndrome [RCV000862559]|not provided [RCV001551886] |
Chr12:2601521 [GRCh38] Chr12:2710687 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3157-90A>G |
single nucleotide variant |
Long QT syndrome [RCV000860351]|Timothy syndrome [RCV001554535]|not provided [RCV001672958] |
Chr12:2606521 [GRCh38] Chr12:2715687 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4399-146C>A |
single nucleotide variant |
Long QT syndrome [RCV000860435]|not provided [RCV001672959] |
Chr12:2665435 [GRCh38] Chr12:2774601 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5319C>T (p.Thr1773=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346024]|Long QT syndrome [RCV000875192] |
Chr12:2679671 [GRCh38] Chr12:2788837 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5538G>A (p.Glu1846=) |
single nucleotide variant |
Long QT syndrome [RCV001432820] |
Chr12:2682643 [GRCh38] Chr12:2791809 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.372-64T>C |
single nucleotide variant |
Long QT syndrome [RCV000981347] |
Chr12:2120261 [GRCh38] Chr12:2229427 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4727-124A>C |
single nucleotide variant |
Long QT syndrome [RCV000863775] |
Chr12:2674417 [GRCh38] Chr12:2783583 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1113+100C>G |
single nucleotide variant |
Long QT syndrome [RCV000860498]|not provided [RCV001712796] |
Chr12:2493486 [GRCh38] Chr12:2602652 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1481+191G>A |
single nucleotide variant |
Long QT syndrome [RCV000860535]|not provided [RCV001644843] |
Chr12:2550224 [GRCh38] Chr12:2659390 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.50-147C>T |
single nucleotide variant |
Long QT syndrome [RCV000860629]|not provided [RCV001593062] |
Chr12:2115077 [GRCh38] Chr12:2224243 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.114G>A (p.Leu38=) |
single nucleotide variant |
Long QT syndrome [RCV001477802] |
Chr12:2115288 [GRCh38] Chr12:2224454 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4141-312G>A |
single nucleotide variant |
Long QT syndrome [RCV000860171] |
Chr12:2654835 [GRCh38] Chr12:2764001 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3209+129T>C |
single nucleotide variant |
Long QT syndrome [RCV001080479]|not provided [RCV000831012] |
Chr12:2606792 [GRCh38] Chr12:2715958 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3210-132C>T |
single nucleotide variant |
Long QT syndrome [RCV001081758]|not provided [RCV000831013] |
Chr12:2606852 [GRCh38] Chr12:2716018 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5574-111T>G |
single nucleotide variant |
Long QT syndrome [RCV001081262]|not provided [RCV000831135] |
Chr12:2685625 [GRCh38] Chr12:2794791 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6119T>G (p.Val2040Gly) |
single nucleotide variant |
Long QT syndrome [RCV000799212] |
Chr12:2690901 [GRCh38] Chr12:2800067 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4727-190G>A |
single nucleotide variant |
Long QT syndrome [RCV001080602]|not provided [RCV000833892] |
Chr12:2674351 [GRCh38] Chr12:2783517 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5784+199G>A |
single nucleotide variant |
Long QT syndrome [RCV001080603]|not provided [RCV000833893] |
Chr12:2686468 [GRCh38] Chr12:2795634 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3559-17C>T |
single nucleotide variant |
not provided [RCV000827444] |
Chr12:2610524 [GRCh38] Chr12:2719690 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1482-177A>G |
single nucleotide variant |
Long QT syndrome [RCV001084538]|not provided [RCV000831189] |
Chr12:2556774 [GRCh38] Chr12:2665940 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4074+153G>A |
single nucleotide variant |
Long QT syndrome [RCV001083363]|not provided [RCV000831190] |
Chr12:2651921 [GRCh38] Chr12:2761087 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.6118-79C>T |
single nucleotide variant |
Long QT syndrome [RCV001084057]|not provided [RCV000831191] |
Chr12:2690821 [GRCh38] Chr12:2799987 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.617+194G>A |
single nucleotide variant |
Long QT syndrome [RCV001084159]|not provided [RCV000831195] |
Chr12:2449309 [GRCh38] Chr12:2558475 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2793+187A>G |
single nucleotide variant |
Long QT syndrome [RCV001083446]|Timothy syndrome [RCV001554534]|not provided [RCV000831196] |
Chr12:2596190 [GRCh38] Chr12:2705356 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4527-151C>T |
single nucleotide variant |
Long QT syndrome [RCV001083036]|not provided [RCV000834009] |
Chr12:2666535 [GRCh38] Chr12:2775701 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380714]|Long QT syndrome [RCV000793620]|Timothy syndrome [RCV002507365] |
Chr12:2448982 [GRCh38] Chr12:2558148 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) |
single nucleotide variant |
Long QT syndrome [RCV000817497]|Timothy syndrome [RCV001089532]|Timothy syndrome [RCV002478907]|not provided [RCV000994776] |
Chr12:2682654 [GRCh38] Chr12:2791820 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1217+154G>C |
single nucleotide variant |
not provided [RCV000835805] |
Chr12:2505099 [GRCh38] Chr12:2614265 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+78C>T |
single nucleotide variant |
not provided [RCV000835827] |
Chr12:2493464 [GRCh38] Chr12:2602630 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.11:g.(?_2797603)_(2800375_?)dup |
duplication |
Long QT syndrome [RCV000818560] |
Chr12:2688437..2691209 [GRCh38] Chr12:2797603..2800375 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.122A>T (p.Glu41Val) |
single nucleotide variant |
Long QT syndrome [RCV000814262] |
Chr12:2115296 [GRCh38] Chr12:2224462 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1024G>A (p.Gly342Ser) |
single nucleotide variant |
Long QT syndrome [RCV000819509] |
Chr12:2493297 [GRCh38] Chr12:2602463 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1396A>G (p.Met466Val) |
single nucleotide variant |
Long QT syndrome [RCV000823580] |
Chr12:2549948 [GRCh38] Chr12:2659114 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.150G>A (p.Leu50=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390964]|Long QT syndrome [RCV001440398] |
Chr12:2115324 [GRCh38] Chr12:2224490 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3448ATC[3] (p.Ile1153del) |
microsatellite |
Long QT syndrome [RCV000823818] |
Chr12:2608601..2608603 [GRCh38] Chr12:2717767..2717769 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345797]|Long QT syndrome [RCV000803302]|not provided [RCV001532202] |
Chr12:2679775 [GRCh38] Chr12:2788941 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4726+313dup |
duplication |
not provided [RCV000828707] |
Chr12:2669338..2669339 [GRCh38] Chr12:2778504..2778505 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3946-298G>A |
single nucleotide variant |
Long QT syndrome [RCV001083450]|not provided [RCV000832534] |
Chr12:2651342 [GRCh38] Chr12:2760508 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1218-66G>A |
single nucleotide variant |
Long QT syndrome [RCV001079849]|not provided [RCV000832594] |
Chr12:2512746 [GRCh38] Chr12:2621912 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1669+54G>A |
single nucleotide variant |
Long QT syndrome [RCV001079144]|not provided [RCV000832604] |
Chr12:2566636 [GRCh38] Chr12:2675802 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4956+13G>A |
single nucleotide variant |
Long QT syndrome [RCV002067508]|not provided [RCV000838282] |
Chr12:2677234 [GRCh38] Chr12:2786400 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-841_5445-840insCTC |
insertion |
not provided [RCV000838317] |
Chr12:2681709..2681710 [GRCh38] Chr12:2790875..2790876 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4829-145C>G |
single nucleotide variant |
Long QT syndrome [RCV001083909]|not provided [RCV000832847] |
Chr12:2676949 [GRCh38] Chr12:2786115 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5091+3G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002336729]|Long QT syndrome [RCV000824511]|not provided [RCV001675964] |
Chr12:2677870 [GRCh38] Chr12:2787036 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3898A>G (p.Ile1300Val) |
single nucleotide variant |
Long QT syndrome [RCV000824554] |
Chr12:2634366 [GRCh38] Chr12:2743532 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5091+25C>T |
single nucleotide variant |
not provided [RCV000830113] |
Chr12:2677892 [GRCh38] Chr12:2787058 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1114-438T>G |
single nucleotide variant |
Long QT syndrome [RCV001083533]|not provided [RCV000834888] |
Chr12:2504404 [GRCh38] Chr12:2613570 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1114-145A>G |
single nucleotide variant |
Long QT syndrome [RCV001083532]|not provided [RCV000834889] |
Chr12:2504697 [GRCh38] Chr12:2613863 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.758-259A>C |
single nucleotide variant |
Long QT syndrome [RCV001084058]|not provided [RCV000843431] |
Chr12:2485845 [GRCh38] Chr12:2595011 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1114-679A>G |
single nucleotide variant |
Long QT syndrome [RCV001084405]|not provided [RCV000843432] |
Chr12:2504163 [GRCh38] Chr12:2613329 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4527-67C>T |
single nucleotide variant |
Long QT syndrome [RCV001082406]|not provided [RCV000834962] |
Chr12:2666619 [GRCh38] Chr12:2775785 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.973C>A (p.Gln325Lys) |
single nucleotide variant |
Long QT syndrome [RCV000818421] |
Chr12:2493246 [GRCh38] Chr12:2602412 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3852T>C (p.Asn1284=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169394]|Long QT syndrome [RCV001481903] |
Chr12:2634320 [GRCh38] Chr12:2743486 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4819C>T (p.Pro1607Ser) |
single nucleotide variant |
Long QT syndrome [RCV000812343] |
Chr12:2674633 [GRCh38] Chr12:2783799 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320009]|Long QT syndrome [RCV001089094]|not provided [RCV000870002]|not specified [RCV001192662] |
Chr12:2120361 [GRCh38] Chr12:2229527 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) |
single nucleotide variant |
Timothy syndrome [RCV000988767] |
Chr12:2493386 [GRCh38] Chr12:2602552 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.1114-487A>G |
single nucleotide variant |
Long QT syndrome [RCV001079848]|Timothy syndrome [RCV001554439]|not provided [RCV000830991] |
Chr12:2504355 [GRCh38] Chr12:2613521 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1508+205A>G |
single nucleotide variant |
Long QT syndrome [RCV001079850]|not provided [RCV000831008] |
Chr12:2557182 [GRCh38] Chr12:2666348 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3718-81T>C |
single nucleotide variant |
Long QT syndrome [RCV001079852]|Timothy syndrome [RCV001554537]|not provided [RCV000831015] |
Chr12:2611822 [GRCh38] Chr12:2720988 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3945+83T>C |
single nucleotide variant |
Long QT syndrome [RCV001079854]|Timothy syndrome [RCV001554532]|not provided [RCV000831016] |
Chr12:2648590 [GRCh38] Chr12:2757756 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.758-38G>A |
single nucleotide variant |
Long QT syndrome [RCV001082407]|not provided [RCV000833528] |
Chr12:2486066 [GRCh38] Chr12:2595232 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3357-172G>T |
single nucleotide variant |
Long QT syndrome [RCV001083448]|not provided [RCV000831197] |
Chr12:2608339 [GRCh38] Chr12:2717505 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.299C>T (p.Pro100Leu) |
single nucleotide variant |
Long QT syndrome [RCV000795761] |
Chr12:2115473 [GRCh38] Chr12:2224639 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3311C>T (p.Ala1104Val) |
single nucleotide variant |
Long QT syndrome [RCV000818677] |
Chr12:2607085 [GRCh38] Chr12:2716251 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4176G>A (p.Glu1392=) |
single nucleotide variant |
Long QT syndrome [RCV001426572] |
Chr12:2655182 [GRCh38] Chr12:2764348 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg) |
single nucleotide variant |
not provided [RCV000994768] |
Chr12:2504932 [GRCh38] Chr12:2614098 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2358G>A (p.Lys786=) |
single nucleotide variant |
not provided [RCV000994770] |
Chr12:2585394 [GRCh38] Chr12:2694560 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3945+212C>T |
single nucleotide variant |
Long QT syndrome [RCV001079531]|not provided [RCV000835447] |
Chr12:2648719 [GRCh38] Chr12:2757885 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2103+190A>G |
single nucleotide variant |
not provided [RCV000835457] |
Chr12:2581987 [GRCh38] Chr12:2691153 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4398+249A>G |
single nucleotide variant |
not provided [RCV000839093] |
Chr12:2665239 [GRCh38] Chr12:2774405 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5480G>A (p.Gly1827Asp) |
single nucleotide variant |
Long QT syndrome [RCV000813452] |
Chr12:2682585 [GRCh38] Chr12:2791751 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3718-216G>A |
single nucleotide variant |
Long QT syndrome [RCV001084976]|not provided [RCV000831651] |
Chr12:2611687 [GRCh38] Chr12:2720853 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5574-176C>T |
single nucleotide variant |
Long QT syndrome [RCV001083689]|not provided [RCV000833650] |
Chr12:2685560 [GRCh38] Chr12:2794726 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2853+438C>T |
single nucleotide variant |
not provided [RCV000838289] |
Chr12:2597727 [GRCh38] Chr12:2706893 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3356+180C>T |
single nucleotide variant |
Long QT syndrome [RCV001080480]|not provided [RCV000831014] |
Chr12:2607310 [GRCh38] Chr12:2716476 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3945+96T>C |
single nucleotide variant |
Long QT syndrome [RCV001079855]|Timothy syndrome [RCV001554538]|not provided [RCV000831017] |
Chr12:2648603 [GRCh38] Chr12:2757769 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345783]|Long QT syndrome [RCV000800202]|not provided [RCV003480837] |
Chr12:2679750 [GRCh38] Chr12:2788916 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 |
copy number loss |
not provided [RCV000847821] |
Chr12:173786..6346092 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.3829-525A>G |
single nucleotide variant |
not provided [RCV000834586] |
Chr12:2633772 [GRCh38] Chr12:2742938 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5445-170A>G |
single nucleotide variant |
not provided [RCV000834664] |
Chr12:2682380 [GRCh38] Chr12:2791546 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3718-131C>T |
single nucleotide variant |
not provided [RCV000835153] |
Chr12:2611772 [GRCh38] Chr12:2720938 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.917-177G>A |
single nucleotide variant |
Long QT syndrome [RCV001081106]|not provided [RCV000831188] |
Chr12:2493013 [GRCh38] Chr12:2602179 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.615G>A (p.Val205=) |
single nucleotide variant |
Long QT syndrome [RCV001869280]|not provided [RCV000831424] |
Chr12:2449113 [GRCh38] Chr12:2558279 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV003166369]|Long QT syndrome [RCV000817455] |
Chr12:2691176 [GRCh38] Chr12:2800342 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.810C>T (p.His270=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169075]|Long QT syndrome [RCV001485735]|not provided [RCV000841939] |
Chr12:2486156 [GRCh38] Chr12:2595322 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys) |
single nucleotide variant |
Long QT syndrome [RCV000801192]|Timothy syndrome [RCV002487695] |
Chr12:2549981 [GRCh38] Chr12:2659147 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5139C>A (p.Asp1713Glu) |
single nucleotide variant |
Long QT syndrome [RCV000820824] |
Chr12:2679491 [GRCh38] Chr12:2788657 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003353065]|Long QT syndrome [RCV000823658] |
Chr12:2585431 [GRCh38] Chr12:2694597 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) |
single nucleotide variant |
Long QT syndrome [RCV001856203]|Long qt syndrome 8 [RCV000782177] |
Chr12:2593252 [GRCh38] Chr12:2702418 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu) |
single nucleotide variant |
Long qt syndrome 8 [RCV000782179] |
Chr12:2585874 [GRCh38] Chr12:2695040 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met) |
single nucleotide variant |
Long qt syndrome 8 [RCV000782182] |
Chr12:2665607 [GRCh38] Chr12:2774773 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp) |
single nucleotide variant |
Long qt syndrome 8 [RCV000782181] |
Chr12:2567644 [GRCh38] Chr12:2676810 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.1937A>C (p.Asn646Thr) |
single nucleotide variant |
Long QT syndrome [RCV000804940] |
Chr12:2581631 [GRCh38] Chr12:2690797 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4624-331A>G |
single nucleotide variant |
not provided [RCV000832535] |
Chr12:2668602 [GRCh38] Chr12:2777768 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3460G>T (p.Ala1154Ser) |
single nucleotide variant |
Long QT syndrome [RCV000801837] |
Chr12:2608614 [GRCh38] Chr12:2717780 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2104-311T>C |
single nucleotide variant |
Long QT syndrome [RCV001085102]|not provided [RCV000829015] |
Chr12:2582511 [GRCh38] Chr12:2691677 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5114A>G (p.Asn1705Ser) |
single nucleotide variant |
Long QT syndrome [RCV001044480] |
Chr12:2679466 [GRCh38] Chr12:2788632 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4336C>G (p.Pro1446Ala) |
single nucleotide variant |
Long QT syndrome [RCV000793621] |
Chr12:2664928 [GRCh38] Chr12:2774094 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.287C>T (p.Thr96Met) |
single nucleotide variant |
Long QT syndrome [RCV001046334] |
Chr12:2115461 [GRCh38] Chr12:2224627 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1482-296C>G |
single nucleotide variant |
Long QT syndrome [RCV001082458]|not provided [RCV000828687] |
Chr12:2556655 [GRCh38] Chr12:2665821 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4074+36G>A |
single nucleotide variant |
Timothy syndrome [RCV001554541]|not provided [RCV000830112] |
Chr12:2651804 [GRCh38] Chr12:2760970 [GRCh37] Chr12:12p13.33 |
benign |
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 |
copy number gain |
not provided [RCV000846343] |
Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.3945+109C>T |
single nucleotide variant |
Long QT syndrome [RCV001079853]|Timothy syndrome [RCV001554539]|not provided [RCV000831018] |
Chr12:2648616 [GRCh38] Chr12:2757782 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345772]|Long QT syndrome [RCV000798366] |
Chr12:2679759 [GRCh38] Chr12:2788925 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr) |
single nucleotide variant |
Long QT syndrome [RCV000798495] |
Chr12:2597273 [GRCh38] Chr12:2706439 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2664-226C>G |
single nucleotide variant |
Long QT syndrome [RCV000860670] |
Chr12:2595648 [GRCh38] Chr12:2704814 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4705G>A (p.Ala1569Thr) |
single nucleotide variant |
Long QT syndrome [RCV000815189] |
Chr12:2669014 [GRCh38] Chr12:2778180 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln) |
single nucleotide variant |
Long QT syndrome [RCV000801954]|not provided [RCV002223246] |
Chr12:2610581 [GRCh38] Chr12:2719747 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.-360G>A |
single nucleotide variant |
not provided [RCV000843413] |
Chr12:2053203 [GRCh38] Chr12:2162369 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1481+743C>T |
single nucleotide variant |
Long QT syndrome [RCV000943044] |
Chr12:2550776 [GRCh38] Chr12:2659942 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3913-6520C>A |
single nucleotide variant |
Long QT syndrome [RCV000943045] |
Chr12:2641955 [GRCh38] Chr12:2751121 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2663+188C>T |
single nucleotide variant |
Long QT syndrome [RCV001083328]|not provided [RCV000833630] |
Chr12:2593533 [GRCh38] Chr12:2702699 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.49+255G>A |
single nucleotide variant |
Long QT syndrome [RCV001079857]|not provided [RCV000843414] |
Chr12:2053866 [GRCh38] Chr12:2163032 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.617+286T>C |
single nucleotide variant |
Long QT syndrome [RCV001081762]|not provided [RCV000843416] |
Chr12:2449401 [GRCh38] Chr12:2558567 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.757+305T>G |
single nucleotide variant |
not provided [RCV000843417] |
Chr12:2458011 [GRCh38] Chr12:2567177 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1508+264T>A |
single nucleotide variant |
Long QT syndrome [RCV001083236]|not provided [RCV000843418] |
Chr12:2557241 [GRCh38] Chr12:2666407 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1508+316G>A |
single nucleotide variant |
Long QT syndrome [RCV001080475]|not provided [RCV000843424] |
Chr12:2557293 [GRCh38] Chr12:2666459 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1508+317C>T |
single nucleotide variant |
Long QT syndrome [RCV001080476]|not provided [RCV000843426] |
Chr12:2557294 [GRCh38] Chr12:2666460 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1895+304A>G |
single nucleotide variant |
Long QT syndrome [RCV001080477]|not provided [RCV000843427] |
Chr12:2568098 [GRCh38] Chr12:2677264 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3913-270A>C |
single nucleotide variant |
Long QT syndrome [RCV001083449]|not provided [RCV000843428] |
Chr12:2648205 [GRCh38] Chr12:2757371 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5444+259A>G |
single nucleotide variant |
Long QT syndrome [RCV001081759]|not provided [RCV000843429] |
Chr12:2680055 [GRCh38] Chr12:2789221 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2853+457C>T |
single nucleotide variant |
Long QT syndrome [RCV001083447]|not provided [RCV000843433] |
Chr12:2597746 [GRCh38] Chr12:2706912 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3718-333T>C |
single nucleotide variant |
not provided [RCV000843434] |
Chr12:2611570 [GRCh38] Chr12:2720736 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1670-52C>T |
single nucleotide variant |
Long QT syndrome [RCV001079851]|Timothy syndrome [RCV001554528]|not provided [RCV000831009] |
Chr12:2567517 [GRCh38] Chr12:2676683 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1896-54G>A |
single nucleotide variant |
Long QT syndrome [RCV001081261]|Timothy syndrome [RCV001554529]|not provided [RCV000831010] |
Chr12:2581536 [GRCh38] Chr12:2690702 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2853+265G>C |
single nucleotide variant |
Long QT syndrome [RCV001080478]|Timothy syndrome [RCV001554530]|not provided [RCV000831011] |
Chr12:2597554 [GRCh38] Chr12:2706720 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4233-136G>A |
single nucleotide variant |
Long QT syndrome [RCV001084473]|not provided [RCV000831019] |
Chr12:2664689 [GRCh38] Chr12:2773855 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4727-231T>C |
single nucleotide variant |
Long QT syndrome [RCV001081105]|Timothy syndrome [RCV001554543]|not provided [RCV000831020] |
Chr12:2674310 [GRCh38] Chr12:2783476 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4828+164T>C |
single nucleotide variant |
Long QT syndrome [RCV001079856]|not provided [RCV000831021] |
Chr12:2674806 [GRCh38] Chr12:2783972 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5681-77C>T |
single nucleotide variant |
Long QT syndrome [RCV001081760]|Timothy syndrome [RCV001554658]|not provided [RCV000831022] |
Chr12:2686089 [GRCh38] Chr12:2795255 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6117+206G>A |
single nucleotide variant |
Long QT syndrome [RCV001081761]|not provided [RCV000831023] |
Chr12:2688985 [GRCh38] Chr12:2798151 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.371+121C>T |
single nucleotide variant |
not provided [RCV000833817] |
Chr12:2115666 [GRCh38] Chr12:2224832 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5385G>T (p.Gly1795=) |
single nucleotide variant |
Long QT syndrome [RCV001453877] |
Chr12:2679737 [GRCh38] Chr12:2788903 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2103+297C>G |
single nucleotide variant |
Long QT syndrome [RCV000860170] |
Chr12:2582094 [GRCh38] Chr12:2691260 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4233-121A>G |
single nucleotide variant |
Long QT syndrome [RCV000860172]|not provided [RCV001615057] |
Chr12:2664704 [GRCh38] Chr12:2773870 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.275A>C (p.Gln92Pro) |
single nucleotide variant |
Long QT syndrome [RCV000813007] |
Chr12:2115449 [GRCh38] Chr12:2224615 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.478-137C>T |
single nucleotide variant |
Long QT syndrome [RCV001084158]|not provided [RCV000831194] |
Chr12:2448839 [GRCh38] Chr12:2558005 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1114-587G>A |
single nucleotide variant |
Long QT syndrome [RCV001086154]|not provided [RCV000833976] |
Chr12:2504255 [GRCh38] Chr12:2613421 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.917-20T>C |
single nucleotide variant |
Long QT syndrome [RCV002067528]|not provided [RCV000840873] |
Chr12:2493170 [GRCh38] Chr12:2602336 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+440G>A |
single nucleotide variant |
Long QT syndrome [RCV000861067]|not provided [RCV001538618] |
Chr12:2597729 [GRCh38] Chr12:2706895 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1390+236G>A |
single nucleotide variant |
Long QT syndrome [RCV001080474]|not provided [RCV000837634] |
Chr12:2513220 [GRCh38] Chr12:2622386 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1390+243T>C |
single nucleotide variant |
Long QT syndrome [RCV001084406]|not provided [RCV000837635] |
Chr12:2513227 [GRCh38] Chr12:2622393 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3049-126C>T |
single nucleotide variant |
Long QT syndrome [RCV000861256]|not provided [RCV001551855] |
Chr12:2605553 [GRCh38] Chr12:2714719 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5869G>C (p.Ala1957Pro) |
single nucleotide variant |
Long QT syndrome [RCV000808005] |
Chr12:2688531 [GRCh38] Chr12:2797697 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2797593)_(2800385_?)dup |
duplication |
Long QT syndrome [RCV000797478] |
Chr12:2688427..2691219 [GRCh38] Chr12:2797593..2800385 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2663+79C>T |
single nucleotide variant |
Long QT syndrome [RCV001082305]|not provided [RCV000829171] |
Chr12:2593424 [GRCh38] Chr12:2702590 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4726+156G>A |
single nucleotide variant |
Long QT syndrome [RCV000861445] |
Chr12:2669191 [GRCh38] Chr12:2778357 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4117A>G (p.Ile1373Val) |
single nucleotide variant |
Long QT syndrome [RCV000808489] |
Chr12:2653877 [GRCh38] Chr12:2763043 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1390+188A>G |
single nucleotide variant |
Long QT syndrome [RCV001084895]|not provided [RCV000834864] |
Chr12:2513172 [GRCh38] Chr12:2622338 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2545G>A (p.Glu849Lys) |
single nucleotide variant |
Long QT syndrome [RCV000800183] |
Chr12:2593227 [GRCh38] Chr12:2702393 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5976C>T (p.Cys1992=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354687]|Long QT syndrome [RCV000874156] |
Chr12:2688638 [GRCh38] Chr12:2797804 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6040G>T (p.Val2014Phe) |
single nucleotide variant |
Long QT syndrome [RCV000817130] |
Chr12:2688702 [GRCh38] Chr12:2797868 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5577C>T (p.Leu1859=) |
single nucleotide variant |
Long QT syndrome [RCV001503787] |
Chr12:2685739 [GRCh38] Chr12:2794905 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5557C>G (p.Leu1853Val) |
single nucleotide variant |
Long QT syndrome [RCV000820720] |
Chr12:2682662 [GRCh38] Chr12:2791828 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1605C>T (p.Phe535=) |
single nucleotide variant |
Long QT syndrome [RCV001491924] |
Chr12:2566518 [GRCh38] Chr12:2675684 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-842GA[4] |
microsatellite |
not provided [RCV000838316] |
Chr12:2681708..2681709 [GRCh38] Chr12:2790874..2790875 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4399-79C>A |
single nucleotide variant |
Long QT syndrome [RCV001080481]|Timothy syndrome [RCV001554542]|not provided [RCV000830106] |
Chr12:2665502 [GRCh38] Chr12:2774668 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2224+78T>G |
single nucleotide variant |
Long QT syndrome [RCV001081757]|not provided [RCV000830111] |
Chr12:2583020 [GRCh38] Chr12:2692186 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3946-98G>A |
single nucleotide variant |
Timothy syndrome [RCV001554533]|not provided [RCV000830131] |
Chr12:2651542 [GRCh38] Chr12:2760708 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6117+5G>C |
single nucleotide variant |
Long QT syndrome [RCV000801091] |
Chr12:2688784 [GRCh38] Chr12:2797950 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2794-136G>T |
single nucleotide variant |
Long QT syndrome [RCV000860433]|not provided [RCV001577246] |
Chr12:2597094 [GRCh38] Chr12:2706260 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.2853+212T>C |
single nucleotide variant |
Long QT syndrome [RCV001493369] |
Chr12:2597501 [GRCh38] Chr12:2706667 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+104C>G |
single nucleotide variant |
Long QT syndrome [RCV000860501]|not provided [RCV001637996] |
Chr12:2584721 [GRCh38] Chr12:2693887 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2460+160T>G |
single nucleotide variant |
Long QT syndrome [RCV000860502]|not provided [RCV001637997] |
Chr12:2585656 [GRCh38] Chr12:2694822 [GRCh37] Chr12:12p13.33 |
benign |
GRCh37/hg19 12p13.33(chr12:2794031-2844076)x3 |
copy number gain |
not provided [RCV000847463] |
Chr12:2794031..2844076 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.12:g.(?_2686156)_(2691209_?)del |
deletion |
Long QT syndrome [RCV001032007] |
Chr12:2795322..2800375 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 |
copy number gain |
not provided [RCV000847209] |
Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.7(CACNA1C):c.187A>G (p.Lys63Glu) |
single nucleotide variant |
Long QT syndrome [RCV001065169] |
Chr12:2115361 [GRCh38] Chr12:2224527 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2794331-2851075)x1 |
copy number loss |
not provided [RCV000848165] |
Chr12:2794331..2851075 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.163G>A (p.Ala55Thr) |
single nucleotide variant |
Long QT syndrome [RCV001068733] |
Chr12:2115337 [GRCh38] Chr12:2224503 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.594A>G (p.Leu198=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352577]|Long QT syndrome [RCV000870753] |
Chr12:2449092 [GRCh38] Chr12:2558258 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:2078015-2316617)x3 |
copy number gain |
not provided [RCV000846240] |
Chr12:2078015..2316617 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2457C>G (p.Thr819=) |
single nucleotide variant |
not provided [RCV000936884] |
Chr12:2585493 [GRCh38] Chr12:2694659 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser) |
single nucleotide variant |
CACNA1C-related condition [RCV003405417]|Cardiovascular phenotype [RCV003365271]|Long QT syndrome [RCV001229088] |
Chr12:2595874 [GRCh38] Chr12:2705040 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4637T>C (p.Met1546Thr) |
single nucleotide variant |
Long QT syndrome [RCV001203071] |
Chr12:2668946 [GRCh38] Chr12:2778112 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365887]|Long QT syndrome [RCV001475053]|not specified [RCV001192659] |
Chr12:2691061 [GRCh38] Chr12:2800227 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5533A>C (p.Thr1845Pro) |
single nucleotide variant |
not provided [RCV000994775] |
Chr12:2682638 [GRCh38] Chr12:2791804 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5714A>G (p.Lys1905Arg) |
single nucleotide variant |
Long QT syndrome [RCV001230156] |
Chr12:2686199 [GRCh38] Chr12:2795365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr) |
single nucleotide variant |
Long QT syndrome [RCV001209098]|not provided [RCV003235495] |
Chr12:2677123 [GRCh38] Chr12:2786289 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln) |
single nucleotide variant |
Long QT syndrome [RCV001205786]|not specified [RCV001586047] |
Chr12:2115422 [GRCh38] Chr12:2224588 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4369A>G (p.Ile1457Val) |
single nucleotide variant |
Long QT syndrome [RCV001221917] |
Chr12:2664961 [GRCh38] Chr12:2774127 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.217A>G (p.Ile73Val) |
single nucleotide variant |
Long QT syndrome [RCV001212668] |
Chr12:2115391 [GRCh38] Chr12:2224557 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1896G>A (p.Arg632=) |
single nucleotide variant |
Long QT syndrome [RCV001216212] |
Chr12:2581590 [GRCh38] Chr12:2690756 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2572C>A (p.Arg858Ser) |
single nucleotide variant |
Long QT syndrome [RCV001233577] |
Chr12:2593254 [GRCh38] Chr12:2702420 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5502T>G (p.Asp1834Glu) |
single nucleotide variant |
Long QT syndrome [RCV001203236] |
Chr12:2682607 [GRCh38] Chr12:2791773 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339673]|Long QT syndrome [RCV001242855] |
Chr12:2679588 [GRCh38] Chr12:2788754 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.182A>C (p.Gln61Pro) |
single nucleotide variant |
Long QT syndrome [RCV001237215] |
Chr12:2115356 [GRCh38] Chr12:2224522 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4025G>A (p.Arg1342His) |
single nucleotide variant |
Long QT syndrome [RCV001237906]|not provided [RCV003151841] |
Chr12:2651719 [GRCh38] Chr12:2760885 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3357-3C>T |
single nucleotide variant |
Long QT syndrome [RCV001223111] |
Chr12:2608508 [GRCh38] Chr12:2717674 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.699del (p.Lys234fs) |
deletion |
Long QT syndrome [RCV001234920] |
Chr12:2457648 [GRCh38] Chr12:2566814 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3454A>T (p.Ile1152Phe) |
single nucleotide variant |
Long QT syndrome [RCV001237826] |
Chr12:2608608 [GRCh38] Chr12:2717774 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003365277]|Long QT syndrome [RCV001235087] |
Chr12:2691069 [GRCh38] Chr12:2800235 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2460+5G>A |
single nucleotide variant |
Long QT syndrome [RCV001240467] |
Chr12:2585501 [GRCh38] Chr12:2694667 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2853+148A>G |
single nucleotide variant |
Long QT syndrome [RCV001210377] |
Chr12:2597437 [GRCh38] Chr12:2706603 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5048T>G (p.Met1683Arg) |
single nucleotide variant |
Long QT syndrome [RCV001211337] |
Chr12:2677824 [GRCh38] Chr12:2786990 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu) |
single nucleotide variant |
Long QT syndrome [RCV001229896]|Timothy syndrome [RCV003336350] |
Chr12:2115311 [GRCh38] Chr12:2224477 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436842]|Long QT syndrome [RCV001219053] |
Chr12:2597252 [GRCh38] Chr12:2706418 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3048+3G>A |
single nucleotide variant |
Long QT syndrome [RCV001219376] |
Chr12:2605171 [GRCh38] Chr12:2714337 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) |
microsatellite |
Long QT syndrome [RCV001245465]|Timothy syndrome [RCV000853594] |
Chr12:2682588..2682590 [GRCh38] Chr12:2791754..2791756 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.502A>G (p.Ile168Val) |
single nucleotide variant |
not provided [RCV003318012] |
Chr12:2449000 [GRCh38] Chr12:2558166 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4957-1G>A |
single nucleotide variant |
not provided [RCV003318049] |
Chr12:2677732 [GRCh38] Chr12:2786898 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) |
single nucleotide variant |
Timothy syndrome [RCV000988769] |
Chr12:2664881 [GRCh38] Chr12:2774047 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447081]|Long QT syndrome [RCV001212644] |
Chr12:2585491 [GRCh38] Chr12:2694657 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.-3T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002375020]|not provided [RCV001093113] |
Chr12:2053560 [GRCh38] Chr12:2162726 [GRCh37] Chr12:12p13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3156+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002069242]|not provided [RCV001712885]|not specified [RCV001194036] |
Chr12:2605803 [GRCh38] Chr12:2714969 [GRCh37] Chr12:12p13.33 |
benign |
NC_000012.11:g.(?_2016586)_(2558301_?)dup |
duplication |
Long QT syndrome [RCV003105307] |
Chr12:2016586..2558301 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.563A>G (p.Asn188Ser) |
single nucleotide variant |
Long QT syndrome [RCV003106425] |
Chr12:2449061 [GRCh38] Chr12:2558227 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2162729)_(2800365_?)del |
deletion |
Long QT syndrome [RCV003105305] |
Chr12:2162729..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_1949885)_(2764424_?)dup |
duplication |
Long QT syndrome [RCV003105306] |
Chr12:1949885..2764424 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2690736)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV003105308] |
Chr12:2690736..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2794882)_(2795455_?)dup |
duplication |
Long QT syndrome [RCV003105309] |
Chr12:2794882..2795455 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2558122)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV003105311] |
Chr12:2558122..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2853+448G>A |
single nucleotide variant |
not provided [RCV001546109] |
Chr12:2597737 [GRCh38] Chr12:2706903 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+264_477+269dup |
duplication |
not provided [RCV001577291] |
Chr12:2120692..2120693 [GRCh38] Chr12:2229858..2229859 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4957-32G>A |
single nucleotide variant |
not provided [RCV001547730] |
Chr12:2677701 [GRCh38] Chr12:2786867 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664G>T (p.Arg888Ser) |
single nucleotide variant |
Long QT syndrome [RCV003106863] |
Chr12:2595874 [GRCh38] Chr12:2705040 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4726+258T>G |
single nucleotide variant |
not provided [RCV001694973] |
Chr12:2669293 [GRCh38] Chr12:2778459 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) |
single nucleotide variant |
Timothy syndrome [RCV003227983]|not provided [RCV001658952] |
Chr12:2610559 [GRCh38] Chr12:2719725 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2103+140G>A |
single nucleotide variant |
not provided [RCV001555682] |
Chr12:2581937 [GRCh38] Chr12:2691103 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-186T>C |
single nucleotide variant |
not provided [RCV001561025] |
Chr12:2682364 [GRCh38] Chr12:2791530 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1218-214C>T |
single nucleotide variant |
not provided [RCV001555900] |
Chr12:2512598 [GRCh38] Chr12:2621764 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-256dup |
duplication |
not provided [RCV001709977] |
Chr12:2682290..2682291 [GRCh38] Chr12:2791456..2791457 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4957-48_4957-41dup |
duplication |
not provided [RCV001556877] |
Chr12:2677684..2677685 [GRCh38] Chr12:2786850..2786851 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5177G>A (p.Arg1726His) |
single nucleotide variant |
not provided [RCV001562201] |
Chr12:2679529 [GRCh38] Chr12:2788695 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.477+227TG[23] |
microsatellite |
not provided [RCV001709306] |
Chr12:2120656..2120657 [GRCh38] Chr12:2229822..2229823 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2531-34G>A |
single nucleotide variant |
not provided [RCV001557551] |
Chr12:2593179 [GRCh38] Chr12:2702345 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-46C>G |
single nucleotide variant |
not provided [RCV001714402] |
Chr12:2651594 [GRCh38] Chr12:2760760 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6118-14C>T |
single nucleotide variant |
Long QT syndrome [RCV002073355]|not provided [RCV001714411] |
Chr12:2690886 [GRCh38] Chr12:2800052 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4829-67dup |
duplication |
not provided [RCV001557664] |
Chr12:2677017..2677018 [GRCh38] Chr12:2786183..2786184 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-422T>C |
single nucleotide variant |
not provided [RCV001714560] |
Chr12:2504420 [GRCh38] Chr12:2613586 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458565]|Long QT syndrome [RCV002073323]|not provided [RCV001714687] |
Chr12:2115411 [GRCh38] Chr12:2224577 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5784+64C>T |
single nucleotide variant |
not provided [RCV001564618] |
Chr12:2686333 [GRCh38] Chr12:2795499 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5092-109A>G |
single nucleotide variant |
not provided [RCV001563410] |
Chr12:2679335 [GRCh38] Chr12:2788501 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4956+147_4956+149dup |
duplication |
not provided [RCV001716450] |
Chr12:2677366..2677367 [GRCh38] Chr12:2786532..2786533 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys) |
single nucleotide variant |
not provided [RCV001582156] |
Chr12:2651679 [GRCh38] Chr12:2760845 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.3946-84G>A |
single nucleotide variant |
not provided [RCV001620517] |
Chr12:2651556 [GRCh38] Chr12:2760722 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3049-92G>A |
single nucleotide variant |
not provided [RCV001611818] |
Chr12:2605587 [GRCh38] Chr12:2714753 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3912+116del |
deletion |
not provided [RCV001656909] |
Chr12:2634485 [GRCh38] Chr12:2743651 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2853+216A>T |
single nucleotide variant |
not provided [RCV001677019] |
Chr12:2597505 [GRCh38] Chr12:2706671 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5445-585G>A |
single nucleotide variant |
not provided [RCV001590032] |
Chr12:2681965 [GRCh38] Chr12:2791131 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+212T>G |
single nucleotide variant |
not provided [RCV001714396] |
Chr12:2597501 [GRCh38] Chr12:2706667 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.477+336C>T |
single nucleotide variant |
not provided [RCV001691900] |
Chr12:2120766 [GRCh38] Chr12:2229932 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4624-38C>G |
single nucleotide variant |
not provided [RCV001610014] |
Chr12:2668895 [GRCh38] Chr12:2778061 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5323C>T (p.Leu1775=) |
single nucleotide variant |
Long QT syndrome [RCV001443994] |
Chr12:2679675 [GRCh38] Chr12:2788841 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6351G>A (p.Val2117=) |
single nucleotide variant |
Long QT syndrome [RCV001454150] |
Chr12:2691133 [GRCh38] Chr12:2800299 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453956]|Long QT syndrome [RCV000865816]|not provided [RCV001811519] |
Chr12:2493377 [GRCh38] Chr12:2602543 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3717+69C>T |
single nucleotide variant |
Long QT syndrome [RCV000860352]|Timothy syndrome [RCV001554536]|not provided [RCV001712795] |
Chr12:2610768 [GRCh38] Chr12:2719934 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.201C>T (p.Ser67=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416264]|Long QT syndrome [RCV000983612] |
Chr12:2115375 [GRCh38] Chr12:2224541 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4828+196G>T |
single nucleotide variant |
Long QT syndrome [RCV000860505]|not provided [RCV001672960] |
Chr12:2674838 [GRCh38] Chr12:2784004 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1481+189C>T |
single nucleotide variant |
Long QT syndrome [RCV000860534]|not provided [RCV001595046] |
Chr12:2550222 [GRCh38] Chr12:2659388 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.916+207G>A |
single nucleotide variant |
Long QT syndrome [RCV000860570]|not provided [RCV001692293] |
Chr12:2486469 [GRCh38] Chr12:2595635 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4140+259C>T |
single nucleotide variant |
Long QT syndrome [RCV000860596] |
Chr12:2654159 [GRCh38] Chr12:2763325 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1965C>G (p.Leu655=) |
single nucleotide variant |
Long QT syndrome [RCV000862281] |
Chr12:2581659 [GRCh38] Chr12:2690825 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.758-8C>T |
single nucleotide variant |
Long QT syndrome [RCV001442654] |
Chr12:2486096 [GRCh38] Chr12:2595262 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5785-4G>A |
single nucleotide variant |
Long QT syndrome [RCV001087761] |
Chr12:2688443 [GRCh38] Chr12:2797609 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5182C>T (p.Leu1728=) |
single nucleotide variant |
Long QT syndrome [RCV001433738] |
Chr12:2679534 [GRCh38] Chr12:2788700 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1824C>A (p.Thr608=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409240]|Long QT syndrome [RCV000940434] |
Chr12:2567723 [GRCh38] Chr12:2676889 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3285G>A (p.Lys1095=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444949]|Long QT syndrome [RCV000874169] |
Chr12:2607059 [GRCh38] Chr12:2716225 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4947G>A (p.Leu1649=) |
single nucleotide variant |
Long QT syndrome [RCV001477213] |
Chr12:2677212 [GRCh38] Chr12:2786378 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6324C>G (p.Ala2108=) |
single nucleotide variant |
Long QT syndrome [RCV001505965] |
Chr12:2691106 [GRCh38] Chr12:2800272 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2979C>T (p.Val993=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434143]|Long QT syndrome [RCV001424220] |
Chr12:2605099 [GRCh38] Chr12:2714265 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.390T>C (p.Ile130=) |
single nucleotide variant |
not provided [RCV000900505] |
Chr12:2120343 [GRCh38] Chr12:2229509 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5680+7G>A |
single nucleotide variant |
Long QT syndrome [RCV000862687] |
Chr12:2685849 [GRCh38] Chr12:2795015 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.258T>C (p.Tyr86=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003307644]|Long QT syndrome [RCV000875125] |
Chr12:2115432 [GRCh38] Chr12:2224598 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346086]|Long QT syndrome [RCV000916426] |
Chr12:2682673 [GRCh38] Chr12:2791839 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4044G>A (p.Thr1348=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320157]|Long QT syndrome [RCV001460488] |
Chr12:2651738 [GRCh38] Chr12:2760904 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352572]|Long QT syndrome [RCV000870359] |
Chr12:2688683 [GRCh38] Chr12:2797849 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352569]|Long QT syndrome [RCV000870137] |
Chr12:2688680 [GRCh38] Chr12:2797846 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) |
single nucleotide variant |
Esophageal atresia [RCV000984721] |
Chr12:2686246 [GRCh38] Chr12:2795412 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1575C>T (p.Val525=) |
single nucleotide variant |
Long QT syndrome [RCV001409161] |
Chr12:2566488 [GRCh38] Chr12:2675654 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.50-327C>G |
single nucleotide variant |
Long QT syndrome [RCV000860166] |
Chr12:2114897 [GRCh38] Chr12:2224063 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1391-64del |
deletion |
Long QT syndrome [RCV000860168]|Timothy syndrome [RCV001554440] |
Chr12:2549879 [GRCh38] Chr12:2659045 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6187C>T (p.Leu2063=) |
single nucleotide variant |
Long QT syndrome [RCV001495792] |
Chr12:2690969 [GRCh38] Chr12:2800135 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4726+73dup |
duplication |
Long QT syndrome [RCV000860301]|not provided [RCV001719163] |
Chr12:2669106..2669107 [GRCh38] Chr12:2778272..2778273 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5445-262A>G |
single nucleotide variant |
Long QT syndrome [RCV000860305]|not provided [RCV001675967] |
Chr12:2682288 [GRCh38] Chr12:2791454 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5444+795G>A |
single nucleotide variant |
not provided [RCV000870787] |
Chr12:2680591 [GRCh38] Chr12:2789757 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3303T>C (p.Val1101=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454007]|Long QT syndrome [RCV001410319] |
Chr12:2607077 [GRCh38] Chr12:2716243 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2103+293T>C |
single nucleotide variant |
Long QT syndrome [RCV000860500] |
Chr12:2582090 [GRCh38] Chr12:2691256 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2531-169G>A |
single nucleotide variant |
Long QT syndrome [RCV000860504]|not provided [RCV001707854] |
Chr12:2593044 [GRCh38] Chr12:2702210 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1053C>T (p.Phe351=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399941]|Long QT syndrome [RCV000872972] |
Chr12:2493326 [GRCh38] Chr12:2602492 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+23C>A |
single nucleotide variant |
Long QT syndrome [RCV000860639] |
Chr12:2493409 [GRCh38] Chr12:2602575 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4140+211G>A |
single nucleotide variant |
Long QT syndrome [RCV000860643] |
Chr12:2654111 [GRCh38] Chr12:2763277 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.758-288A>G |
single nucleotide variant |
Long QT syndrome [RCV000861498]|not provided [RCV001541271] |
Chr12:2485816 [GRCh38] Chr12:2594982 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3702C>T (p.Ile1234=) |
single nucleotide variant |
Long QT syndrome [RCV001499288] |
Chr12:2610684 [GRCh38] Chr12:2719850 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4683C>T (p.Thr1561=) |
single nucleotide variant |
Long QT syndrome [RCV001487126] |
Chr12:2668992 [GRCh38] Chr12:2778158 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5118C>T (p.His1706=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169467]|Long QT syndrome [RCV000951886] |
Chr12:2679470 [GRCh38] Chr12:2788636 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.558C>T (p.His186=) |
single nucleotide variant |
Long QT syndrome [RCV001406989] |
Chr12:2449056 [GRCh38] Chr12:2558222 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.897C>T (p.Tyr299=) |
single nucleotide variant |
Long QT syndrome [RCV001477821] |
Chr12:2486243 [GRCh38] Chr12:2595409 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5784+149G>A |
single nucleotide variant |
Long QT syndrome [RCV000860963]|not provided [RCV001672963] |
Chr12:2686418 [GRCh38] Chr12:2795584 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5535G>T (p.Thr1845=) |
single nucleotide variant |
Long QT syndrome [RCV001473777] |
Chr12:2682640 [GRCh38] Chr12:2791806 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381935]|Long QT syndrome [RCV001393467]|Timothy syndrome [RCV002501248] |
Chr12:2115276 [GRCh38] Chr12:2224442 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3913-6632A>G |
single nucleotide variant |
Long QT syndrome [RCV000942911] |
Chr12:2641843 [GRCh38] Chr12:2751009 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4527-6T>A |
single nucleotide variant |
Long QT syndrome [RCV001407280] |
Chr12:2666680 [GRCh38] Chr12:2775846 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1101C>T (p.Asp367=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427361]|Long QT syndrome [RCV001498923] |
Chr12:2493374 [GRCh38] Chr12:2602540 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1896-126G>A |
single nucleotide variant |
Long QT syndrome [RCV000860169]|not provided [RCV001535380] |
Chr12:2581464 [GRCh38] Chr12:2690630 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3829-954C>T |
single nucleotide variant |
Long QT syndrome [RCV000861948] |
Chr12:2633343 [GRCh38] Chr12:2742509 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1441G>A (p.Gly481Arg) |
single nucleotide variant |
Long QT syndrome [RCV001247139] |
Chr12:2549993 [GRCh38] Chr12:2659159 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6052G>A (p.Val2018Met) |
single nucleotide variant |
Long QT syndrome [RCV001070911] |
Chr12:2688714 [GRCh38] Chr12:2797880 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) |
single nucleotide variant |
Timothy syndrome [RCV001249681] |
Chr12:2457671 [GRCh38] Chr12:2566837 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348660]|Long QT syndrome [RCV001203453] |
Chr12:2682615 [GRCh38] Chr12:2791781 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5344G>A (p.Ala1782Thr) |
single nucleotide variant |
Long QT syndrome [RCV001242579] |
Chr12:2679696 [GRCh38] Chr12:2788862 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3473T>A (p.Met1158Lys) |
single nucleotide variant |
Long QT syndrome [RCV001243129] |
Chr12:2608627 [GRCh38] Chr12:2717793 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) |
single nucleotide variant |
CACNA1C-related condition [RCV003414055]|Cardiovascular phenotype [RCV002375288]|Long QT syndrome [RCV001243525]|not provided [RCV002223291] |
Chr12:2486211 [GRCh38] Chr12:2595377 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His) |
single nucleotide variant |
CACNA1C-related condition [RCV003414011]|Cardiovascular phenotype [RCV002348723]|Long QT syndrome [RCV001216732] |
Chr12:2679691 [GRCh38] Chr12:2788857 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3748G>A (p.Ala1250Thr) |
single nucleotide variant |
Long QT syndrome [RCV001223595]|not provided [RCV002223287] |
Chr12:2611933 [GRCh38] Chr12:2721099 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6361G>A (p.Gly2121Ser) |
single nucleotide variant |
Long QT syndrome [RCV001240112] |
Chr12:2691143 [GRCh38] Chr12:2800309 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4726+3A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002339224]|Long QT syndrome [RCV001044450] |
Chr12:2669038 [GRCh38] Chr12:2778204 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1360G>A (p.Glu454Lys) |
single nucleotide variant |
Long QT syndrome [RCV001044550] |
Chr12:2512954 [GRCh38] Chr12:2622120 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.3926C>G (p.Thr1309Ser) |
single nucleotide variant |
Long QT syndrome [RCV001069724]|Long qt syndrome 8 [RCV003339458] |
Chr12:2648488 [GRCh38] Chr12:2757654 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.12:g.(?_2448975)_(2691199_?)dup |
duplication |
Long QT syndrome [RCV001033674] |
Chr12:2558141..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5784+4G>T |
single nucleotide variant |
Long QT syndrome [RCV001045676]|Timothy syndrome [RCV002479280] |
Chr12:2686273 [GRCh38] Chr12:2795439 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1342G>T (p.Asp448Tyr) |
single nucleotide variant |
Long QT syndrome [RCV001045723] |
Chr12:2512936 [GRCh38] Chr12:2622102 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445380]|not provided [RCV001093115] |
Chr12:2584562 [GRCh38] Chr12:2693728 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NC_000012.12:g.(?_2690890)_(2691209_?)dup |
duplication |
Long QT syndrome [RCV001033706] |
Chr12:2800056..2800375 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5294C>A (p.Ala1765Asp) |
single nucleotide variant |
Long QT syndrome [RCV001227833] |
Chr12:2679646 [GRCh38] Chr12:2788812 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4074+8C>T |
single nucleotide variant |
not provided [RCV000913359] |
Chr12:2651776 [GRCh38] Chr12:2760942 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4971A>G (p.Thr1657=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336951]|Long QT syndrome [RCV001427442] |
Chr12:2677747 [GRCh38] Chr12:2786913 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1842G>C (p.Leu614=) |
single nucleotide variant |
Long QT syndrome [RCV001471118] |
Chr12:2567741 [GRCh38] Chr12:2676907 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4075-7del |
deletion |
Long QT syndrome [RCV002540825] |
Chr12:2653827 [GRCh38] Chr12:2762993 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2178G>A (p.Gly726=) |
single nucleotide variant |
Long QT syndrome [RCV001447937] |
Chr12:2582896 [GRCh38] Chr12:2692062 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3157-10T>C |
single nucleotide variant |
Long QT syndrome [RCV001414902] |
Chr12:2606601 [GRCh38] Chr12:2715767 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.999G>A (p.Lys333=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382124]|Long QT syndrome [RCV001427858] |
Chr12:2493272 [GRCh38] Chr12:2602438 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3913-22C>G |
single nucleotide variant |
not provided [RCV001562103] |
Chr12:2648453 [GRCh38] Chr12:2757619 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6279C>G (p.Ala2093=) |
single nucleotide variant |
Long QT syndrome [RCV002857960] |
Chr12:2691061 [GRCh38] Chr12:2800227 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1509-43A>G |
single nucleotide variant |
not provided [RCV001551451] |
Chr12:2566379 [GRCh38] Chr12:2675545 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4828+204C>T |
single nucleotide variant |
not provided [RCV001577613] |
Chr12:2674846 [GRCh38] Chr12:2784012 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2181G>T (p.Met727Ile) |
single nucleotide variant |
Brugada syndrome 3 [RCV003234837] |
Chr12:2582899 [GRCh38] Chr12:2692065 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2853+155G>A |
single nucleotide variant |
not provided [RCV002467190] |
Chr12:2597444 [GRCh38] Chr12:2706610 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5092-221G>A |
single nucleotide variant |
not provided [RCV001567635] |
Chr12:2679223 [GRCh38] Chr12:2788389 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg) |
single nucleotide variant |
Long qt syndrome 8 [RCV002470406] |
Chr12:2677175 [GRCh38] Chr12:2786341 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3210-52C>T |
single nucleotide variant |
not provided [RCV001570744] |
Chr12:2606932 [GRCh38] Chr12:2716098 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn) |
single nucleotide variant |
Brugada syndrome 3 [RCV002466826] |
Chr12:2585445 [GRCh38] Chr12:2694611 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458530]|Long QT syndrome [RCV003120631]|Timothy syndrome [RCV001563596] |
Chr12:2608614 [GRCh38] Chr12:2717780 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4399-231C>T |
single nucleotide variant |
not provided [RCV001559474] |
Chr12:2665350 [GRCh38] Chr12:2774516 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2530+66C>T |
single nucleotide variant |
not provided [RCV001717996] |
Chr12:2585970 [GRCh38] Chr12:2695136 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3829-87_3829-86del |
deletion |
not provided [RCV001636033] |
Chr12:2634195..2634196 [GRCh38] Chr12:2743361..2743362 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5956A>G (p.Ser1986Gly) |
single nucleotide variant |
not provided [RCV002259502] |
Chr12:2688618 [GRCh38] Chr12:2797784 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) |
single nucleotide variant |
Timothy syndrome [RCV002506669]|not provided [RCV001566213] |
Chr12:2593318 [GRCh38] Chr12:2702484 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003233023] |
Chr12:2512827 [GRCh38] Chr12:2621993 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.2584C>T (p.Leu862Phe) |
single nucleotide variant |
not provided [RCV001555968] |
Chr12:2593266 [GRCh38] Chr12:2702432 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) |
single nucleotide variant |
Long QT syndrome [RCV001865981]|Timothy syndrome [RCV003318403]|not provided [RCV001561495] |
Chr12:2605691 [GRCh38] Chr12:2714857 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.4232+268G>A |
single nucleotide variant |
not provided [RCV001550697] |
Chr12:2655506 [GRCh38] Chr12:2764672 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+81C>T |
single nucleotide variant |
not provided [RCV001576883] |
Chr12:2493467 [GRCh38] Chr12:2602633 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter) |
single nucleotide variant |
not provided [RCV001576936] |
Chr12:2448979 [GRCh38] Chr12:2558145 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.477+227TG[24] |
microsatellite |
not provided [RCV001576945] |
Chr12:2120656..2120657 [GRCh38] Chr12:2229822..2229823 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2104-240G>A |
single nucleotide variant |
not provided [RCV001556462] |
Chr12:2582582 [GRCh38] Chr12:2691748 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg) |
single nucleotide variant |
Long QT syndrome [RCV002573586]|not provided [RCV002467052] |
Chr12:2457637 [GRCh38] Chr12:2566803 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2056363-2801698)x1 |
copy number loss |
not provided [RCV002473814] |
Chr12:2056363..2801698 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002466352] |
Chr12:2486116 [GRCh38] Chr12:2595282 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348367]|Long QT syndrome [RCV001044393] |
Chr12:2686216 [GRCh38] Chr12:2795382 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5445-591C>T |
single nucleotide variant |
not provided [RCV001615539] |
Chr12:2681959 [GRCh38] Chr12:2791125 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4829-298A>G |
single nucleotide variant |
not provided [RCV001620761] |
Chr12:2676796 [GRCh38] Chr12:2785962 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414289]|Long QT syndrome [RCV001873822]|not provided [RCV001654469] |
Chr12:2486201 [GRCh38] Chr12:2595367 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3829-683C>T |
single nucleotide variant |
not provided [RCV001717060] |
Chr12:2633614 [GRCh38] Chr12:2742780 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.477+227TG[19] |
microsatellite |
not provided [RCV001636437] |
Chr12:2120657..2120658 [GRCh38] Chr12:2229823..2229824 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2103+12T>C |
single nucleotide variant |
not provided [RCV001718044] |
Chr12:2581809 [GRCh38] Chr12:2690975 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.477+227TG[22] |
microsatellite |
not provided [RCV001688131] |
Chr12:2120656..2120657 [GRCh38] Chr12:2229822..2229823 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3945+14T>C |
single nucleotide variant |
not provided [RCV001714399] |
Chr12:2648521 [GRCh38] Chr12:2757687 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4829-24CT[3] |
microsatellite |
not provided [RCV001714403] |
Chr12:2677069..2677070 [GRCh38] Chr12:2786235..2786236 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3912+189dup |
duplication |
not provided [RCV001677887] |
Chr12:2634556..2634557 [GRCh38] Chr12:2743722..2743723 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val) |
single nucleotide variant |
not provided [RCV001699969] |
Chr12:2610694 [GRCh38] Chr12:2719860 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1968T>A (p.Leu656=) |
single nucleotide variant |
not provided [RCV001658731] |
Chr12:2581662 [GRCh38] Chr12:2690828 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3946-137A>C |
single nucleotide variant |
not provided [RCV001657156] |
Chr12:2651503 [GRCh38] Chr12:2760669 [GRCh37] Chr12:12p13.33 |
benign |
NM_001167623.2(CACNA1C):c.1125T>C (p.Ala375=) |
single nucleotide variant |
not provided [RCV001674628] |
Chr12:2504447 [GRCh38] Chr12:2613613 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4527-2A>G |
single nucleotide variant |
not provided [RCV001592476] |
Chr12:2666684 [GRCh38] Chr12:2775850 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.5779C>A (p.His1927Asn) |
single nucleotide variant |
Long QT syndrome [RCV001035330] |
Chr12:2686264 [GRCh38] Chr12:2795430 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1390+11G>A |
single nucleotide variant |
Long QT syndrome [RCV002069203]|not specified [RCV001192661] |
Chr12:2512995 [GRCh38] Chr12:2622161 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003353148]|Long QT syndrome [RCV001069383] |
Chr12:2566435 [GRCh38] Chr12:2675601 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3357-27C>A |
single nucleotide variant |
not provided [RCV001548300] |
Chr12:2608484 [GRCh38] Chr12:2717650 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4956+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002068757]|not provided [RCV001615108] |
Chr12:2677238 [GRCh38] Chr12:2786404 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4213del (p.Ala1405fs) |
deletion |
Long QT syndrome [RCV001049140] |
Chr12:2655218 [GRCh38] Chr12:2764384 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.477+227TG[21] |
microsatellite |
not provided [RCV001615963] |
Chr12:2120656..2120657 [GRCh38] Chr12:2229822..2229823 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.-224T>C |
single nucleotide variant |
not provided [RCV001616771] |
Chr12:2053339 [GRCh38] Chr12:2162505 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5574-21C>T |
single nucleotide variant |
not provided [RCV001587666] |
Chr12:2685715 [GRCh38] Chr12:2794881 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1670-14C>T |
single nucleotide variant |
Long QT syndrome [RCV002568918]|not provided [RCV001534210] |
Chr12:2567555 [GRCh38] Chr12:2676721 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4558C>A (p.Leu1520Ile) |
single nucleotide variant |
Long qt syndrome 8 [RCV001591642] |
Chr12:2666717 [GRCh38] Chr12:2775883 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.12:g.(?_2685726)_(2691209_?)dup |
duplication |
Long QT syndrome [RCV001033581] |
Chr12:2794892..2800375 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2107C>T (p.Leu703=) |
single nucleotide variant |
not provided [RCV001692668] |
Chr12:2582825 [GRCh38] Chr12:2691991 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3946-81C>A |
single nucleotide variant |
not provided [RCV001612373] |
Chr12:2651559 [GRCh38] Chr12:2760725 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5444+439_5444+440insA |
insertion |
not provided [RCV001668654] |
Chr12:2680235..2680236 [GRCh38] Chr12:2789401..2789402 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.372-3C>T |
single nucleotide variant |
not provided [RCV001714388] |
Chr12:2120322 [GRCh38] Chr12:2229488 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3912+116dup |
duplication |
not provided [RCV001695959] |
Chr12:2634484..2634485 [GRCh38] Chr12:2743650..2743651 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2794-229G>A |
single nucleotide variant |
not provided [RCV001566903] |
Chr12:2597001 [GRCh38] Chr12:2706167 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+26A>C |
single nucleotide variant |
not provided [RCV001611756] |
Chr12:2493412 [GRCh38] Chr12:2602578 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.758-190G>T |
single nucleotide variant |
not provided [RCV001695007] |
Chr12:2485914 [GRCh38] Chr12:2595080 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.478-202dup |
duplication |
not provided [RCV001644150] |
Chr12:2448763..2448764 [GRCh38] Chr12:2557929..2557930 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3829-86dup |
duplication |
not provided [RCV001669788] |
Chr12:2634194..2634195 [GRCh38] Chr12:2743360..2743361 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.495C>A (p.Leu165=) |
single nucleotide variant |
not provided [RCV001714389] |
Chr12:2448993 [GRCh38] Chr12:2558159 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1669+6C>T |
single nucleotide variant |
Long QT syndrome [RCV001034866]|not provided [RCV001683728] |
Chr12:2566588 [GRCh38] Chr12:2675754 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys) |
single nucleotide variant |
Long QT syndrome [RCV001056234]|Timothy syndrome [RCV002471021] |
Chr12:2691110 [GRCh38] Chr12:2800276 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4135A>G (p.Met1379Val) |
single nucleotide variant |
Long QT syndrome [RCV001218819] |
Chr12:2653895 [GRCh38] Chr12:2763061 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.88A>G (p.Met30Val) |
single nucleotide variant |
Long QT syndrome [RCV001220246] |
Chr12:2115262 [GRCh38] Chr12:2224428 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5254A>G (p.Thr1752Ala) |
single nucleotide variant |
Long QT syndrome [RCV001205173] |
Chr12:2679606 [GRCh38] Chr12:2788772 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1217+5G>A |
single nucleotide variant |
Timothy syndrome [RCV001198936] |
Chr12:2504950 [GRCh38] Chr12:2614116 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4956+5G>C |
single nucleotide variant |
Brugada syndrome [RCV001089638]|Cardiovascular phenotype [RCV002339391]|Long QT syndrome [RCV002554800] |
Chr12:2677226 [GRCh38] Chr12:2786392 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs) |
duplication |
Cardiovascular phenotype [RCV002337088]|Long QT syndrome [RCV001036249] |
Chr12:2668972..2668973 [GRCh38] Chr12:2778138..2778139 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5569G>A (p.Glu1857Lys) |
single nucleotide variant |
Long QT syndrome [RCV001212642] |
Chr12:2682674 [GRCh38] Chr12:2791840 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5215G>A (p.Asp1739Asn) |
single nucleotide variant |
Long QT syndrome [RCV001053932] |
Chr12:2679567 [GRCh38] Chr12:2788733 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2392G>A (p.Glu798Lys) |
single nucleotide variant |
Long QT syndrome [RCV001057966] |
Chr12:2585428 [GRCh38] Chr12:2694594 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5933A>G (p.Glu1978Gly) |
single nucleotide variant |
Long QT syndrome [RCV001233985] |
Chr12:2688595 [GRCh38] Chr12:2797761 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5680+6T>C |
single nucleotide variant |
Long QT syndrome [RCV001216768] |
Chr12:2685848 [GRCh38] Chr12:2795014 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4176G>C (p.Glu1392Asp) |
single nucleotide variant |
Long QT syndrome [RCV001217194] |
Chr12:2655182 [GRCh38] Chr12:2764348 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=) |
single nucleotide variant |
Long QT syndrome [RCV001473623]|not provided [RCV001093117]|not specified [RCV001700973] |
Chr12:2685799 [GRCh38] Chr12:2794965 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1797C>T (p.Gly599=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411848]|Long QT syndrome [RCV001230629] |
Chr12:2567696 [GRCh38] Chr12:2676862 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160264]|Long QT syndrome [RCV001040590]|not provided [RCV001772224] |
Chr12:2593218 [GRCh38] Chr12:2702384 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.835A>G (p.Ile279Val) |
single nucleotide variant |
Long QT syndrome [RCV001235284]|not provided [RCV001751461] |
Chr12:2486181 [GRCh38] Chr12:2595347 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5735G>A (p.Gly1912Glu) |
single nucleotide variant |
Long QT syndrome [RCV001215035] |
Chr12:2686220 [GRCh38] Chr12:2795386 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5813TCC[1] (p.Leu1939del) |
microsatellite |
Cardiovascular phenotype [RCV002356893]|Long QT syndrome [RCV001208075] |
Chr12:2688473..2688475 [GRCh38] Chr12:2797639..2797641 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5300_5314del (p.Ile1767_Asn1771del) |
deletion |
Long QT syndrome [RCV001233691] |
Chr12:2679641..2679655 [GRCh38] Chr12:2788807..2788821 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451560]|Long QT syndrome [RCV001234011] |
Chr12:2585417 [GRCh38] Chr12:2694583 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5636T>G (p.Ile1879Ser) |
single nucleotide variant |
Long QT syndrome [RCV001205902] |
Chr12:2685798 [GRCh38] Chr12:2794964 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu) |
single nucleotide variant |
Long QT syndrome [RCV001246201]|Timothy syndrome [RCV002484377] |
Chr12:2688556 [GRCh38] Chr12:2797722 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160526]|Long QT syndrome [RCV001064289] |
Chr12:2597243 [GRCh38] Chr12:2706409 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe) |
single nucleotide variant |
not specified [RCV001192663] |
Chr12:2690905 [GRCh38] Chr12:2800071 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile) |
single nucleotide variant |
not provided [RCV001200574] |
Chr12:2581768 [GRCh38] Chr12:2690934 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3107C>G (p.Thr1036Ser) |
single nucleotide variant |
Long QT syndrome [RCV001062542] |
Chr12:2605737 [GRCh38] Chr12:2714903 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) |
single nucleotide variant |
Long QT syndrome [RCV001859198]|Timothy syndrome [RCV001197902] |
Chr12:2566436 [GRCh38] Chr12:2675602 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2389G>A (p.Gly797Arg) |
single nucleotide variant |
Long QT syndrome [RCV001231763] |
Chr12:2585425 [GRCh38] Chr12:2694591 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=) |
single nucleotide variant |
Long QT syndrome [RCV002568755]|not specified [RCV001256730] |
Chr12:2674635 [GRCh38] Chr12:2783801 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.6403G>T (p.Val2135Phe) |
single nucleotide variant |
Long QT syndrome [RCV001257204] |
Chr12:2691185 [GRCh38] Chr12:2800351 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Intellectual disability [RCV001260649] |
Chr12:2053563 [GRCh38] Chr12:2162729 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3 |
copy number gain |
not provided [RCV001259133] |
Chr12:2019715..2674054 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1 |
copy number loss |
not provided [RCV001259134] |
Chr12:191242..4683495 [GRCh37] Chr12:12p13.33-13.32 |
pathogenic |
NM_000719.7(CACNA1C):c.3812T>C (p.Ile1271Thr) |
single nucleotide variant |
Long qt syndrome 8 [RCV001258375] |
Chr12:2611997 [GRCh38] Chr12:2721163 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339696]|Long QT syndrome [RCV001500007]|not provided [RCV001712889]|not specified [RCV001256870] |
Chr12:2666737 [GRCh38] Chr12:2775903 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5574-13C>A |
single nucleotide variant |
not specified [RCV001255538] |
Chr12:2685723 [GRCh38] Chr12:2794889 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431885]|Long QT syndrome [RCV001313869]|Timothy syndrome [RCV002476451] |
Chr12:2115256 [GRCh38] Chr12:2224422 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.32del (p.Pro11fs) |
deletion |
Conduction disorder of the heart [RCV001256683] |
Chr12:2053593 [GRCh38] Chr12:2162759 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.4531C>T (p.Arg1511Cys) |
single nucleotide variant |
Long QT syndrome [RCV001294526] |
Chr12:2666690 [GRCh38] Chr12:2775856 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2387T>G (p.Val796Gly) |
single nucleotide variant |
Long QT syndrome [RCV001304064] |
Chr12:2585423 [GRCh38] Chr12:2694589 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1481+1G>A |
single nucleotide variant |
Intellectual disability [RCV001260594] |
Chr12:2550034 [GRCh38] Chr12:2659200 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro) |
single nucleotide variant |
Intellectual disability [RCV001260595] |
Chr12:2581667 [GRCh38] Chr12:2690833 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.756A>G (p.Pro252=) |
single nucleotide variant |
Long QT syndrome [RCV001313290] |
Chr12:2457705 [GRCh38] Chr12:2566871 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV001264689] |
Chr12:2566442 [GRCh38] Chr12:2675608 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:2218209-2554428)x3 |
copy number gain |
not provided [RCV001259132] |
Chr12:2218209..2554428 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4202C>G (p.Thr1401Ser) |
single nucleotide variant |
Long QT syndrome [RCV001963805] |
Chr12:2655208 [GRCh38] Chr12:2764374 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3088G>A (p.Gly1030Arg) |
single nucleotide variant |
Long QT syndrome [RCV001889443] |
Chr12:2605718 [GRCh38] Chr12:2714884 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg) |
single nucleotide variant |
not provided [RCV001256731] |
Chr12:2512849 [GRCh38] Chr12:2622015 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357126]|Long QT syndrome [RCV001313874] |
Chr12:2688746 [GRCh38] Chr12:2797912 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5174A>C (p.Gln1725Pro) |
single nucleotide variant |
Long QT syndrome [RCV001300259] |
Chr12:2679526 [GRCh38] Chr12:2788692 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4357G>A (p.Val1453Ile) |
single nucleotide variant |
Long QT syndrome [RCV001317155] |
Chr12:2664949 [GRCh38] Chr12:2774115 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6382C>A (p.Leu2128Ile) |
single nucleotide variant |
Long QT syndrome [RCV001313859] |
Chr12:2691164 [GRCh38] Chr12:2800330 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1343A>C (p.Asp448Ala) |
single nucleotide variant |
Long QT syndrome [RCV001314363] |
Chr12:2512937 [GRCh38] Chr12:2622103 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2690T>A (p.Val897Asp) |
single nucleotide variant |
Long QT syndrome [RCV001342622] |
Chr12:2595900 [GRCh38] Chr12:2705066 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5077G>A (p.Asp1693Asn) |
single nucleotide variant |
Long QT syndrome [RCV001299277] |
Chr12:2677853 [GRCh38] Chr12:2787019 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5126A>G (p.Tyr1709Cys) |
single nucleotide variant |
Long QT syndrome [RCV001309264] |
Chr12:2679478 [GRCh38] Chr12:2788644 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3828+5G>T |
single nucleotide variant |
Long QT syndrome [RCV001303394] |
Chr12:2612018 [GRCh38] Chr12:2721184 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2693A>G (p.Asn898Ser) |
single nucleotide variant |
Long QT syndrome [RCV001317602] |
Chr12:2595903 [GRCh38] Chr12:2705069 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4820del (p.Pro1607fs) |
deletion |
Brugada syndrome 3 [RCV001332566] |
Chr12:2674630 [GRCh38] Chr12:2783796 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.6278C>G (p.Ala2093Gly) |
single nucleotide variant |
Long QT syndrome [RCV001294685] |
Chr12:2691060 [GRCh38] Chr12:2800226 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5993C>A (p.Thr1998Asn) |
single nucleotide variant |
Long QT syndrome [RCV001294725] |
Chr12:2688655 [GRCh38] Chr12:2797821 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe) |
single nucleotide variant |
Long QT syndrome [RCV001320721]|Timothy syndrome [RCV002486276] |
Chr12:2493214 [GRCh38] Chr12:2602380 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser) |
single nucleotide variant |
Long QT syndrome [RCV001312669]|Timothy syndrome [RCV002476443] |
Chr12:2685842 [GRCh38] Chr12:2795008 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4966C>T (p.Arg1656Cys) |
single nucleotide variant |
Long QT syndrome [RCV001315231] |
Chr12:2677742 [GRCh38] Chr12:2786908 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.92A>G (p.Asn31Ser) |
single nucleotide variant |
Long QT syndrome [RCV001325985] |
Chr12:2115266 [GRCh38] Chr12:2224432 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6362G>A (p.Gly2121Asp) |
single nucleotide variant |
Long QT syndrome [RCV001362295] |
Chr12:2691144 [GRCh38] Chr12:2800310 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357274]|Long QT syndrome [RCV001373291] |
Chr12:2688717 [GRCh38] Chr12:2797883 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6256G>A (p.Ala2086Thr) |
single nucleotide variant |
Long QT syndrome [RCV001324598] |
Chr12:2691038 [GRCh38] Chr12:2800204 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=) |
single nucleotide variant |
Long QT syndrome [RCV001361450]|Timothy syndrome [RCV002488100] |
Chr12:2493299 [GRCh38] Chr12:2602465 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.762C>T (p.Leu254=) |
single nucleotide variant |
Long QT syndrome [RCV001423008] |
Chr12:2486108 [GRCh38] Chr12:2595274 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2947T>A (p.Ser983Thr) |
single nucleotide variant |
Long QT syndrome [RCV001372432] |
Chr12:2601947 [GRCh38] Chr12:2711113 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5845C>T (p.Pro1949Ser) |
single nucleotide variant |
Long QT syndrome [RCV001326981] |
Chr12:2688507 [GRCh38] Chr12:2797673 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.135C>T (p.Thr45=) |
single nucleotide variant |
Long QT syndrome [RCV001396534] |
Chr12:2115309 [GRCh38] Chr12:2224475 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1540A>G (p.Arg514Gly) |
single nucleotide variant |
Concentric hypertrophic cardiomyopathy [RCV001290139] |
Chr12:2566453 [GRCh38] Chr12:2675619 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg) |
single nucleotide variant |
Long QT syndrome [RCV001305814] |
Chr12:2605769 [GRCh38] Chr12:2714935 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5926G>A (p.Gly1976Arg) |
single nucleotide variant |
Long QT syndrome [RCV001307677] |
Chr12:2688588 [GRCh38] Chr12:2797754 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1345_1371dup (p.Pro449_Asp457dup) |
duplication |
Long QT syndrome [RCV001359703] |
Chr12:2512935..2512936 [GRCh38] Chr12:2622101..2622102 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4029G>A (p.Gly1343=) |
single nucleotide variant |
Long QT syndrome [RCV001413595] |
Chr12:2651723 [GRCh38] Chr12:2760889 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411987]|Long QT syndrome [RCV001307826]|Timothy syndrome [RCV002486203] |
Chr12:2567685 [GRCh38] Chr12:2676851 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6315G>A (p.Gln2105=) |
single nucleotide variant |
Long QT syndrome [RCV001413779] |
Chr12:2691097 [GRCh38] Chr12:2800263 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1670-9G>T |
single nucleotide variant |
Long QT syndrome [RCV001397048] |
Chr12:2567560 [GRCh38] Chr12:2676726 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5412G>A (p.Val1804=) |
single nucleotide variant |
not provided [RCV001310629] |
Chr12:2679764 [GRCh38] Chr12:2788930 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2440G>T (p.Glu814Ter) |
single nucleotide variant |
Long QT syndrome [RCV001371222] |
Chr12:2585476 [GRCh38] Chr12:2694642 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3732C>T (p.Ser1244=) |
single nucleotide variant |
Long QT syndrome [RCV001421845] |
Chr12:2611917 [GRCh38] Chr12:2721083 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2208C>T (p.Leu736=) |
single nucleotide variant |
Long QT syndrome [RCV001433972] |
Chr12:2582926 [GRCh38] Chr12:2692092 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5920C>T (p.Leu1974Phe) |
single nucleotide variant |
Long QT syndrome [RCV001325995] |
Chr12:2688582 [GRCh38] Chr12:2797748 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.5363T>C (p.Val1788Ala) |
single nucleotide variant |
Long QT syndrome [RCV001351711] |
Chr12:2679715 [GRCh38] Chr12:2788881 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1509-1G>A |
single nucleotide variant |
Long QT syndrome [RCV001371906] |
Chr12:2566421 [GRCh38] Chr12:2675587 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg) |
single nucleotide variant |
Long QT syndrome [RCV001349988]|Timothy syndrome [RCV002504559] |
Chr12:2688680 [GRCh38] Chr12:2797846 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4526+9C>G |
single nucleotide variant |
Long QT syndrome [RCV001397626] |
Chr12:2665717 [GRCh38] Chr12:2774883 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.11:g.(?_2757621)_(2800385_?)dup |
duplication |
Long QT syndrome [RCV001295079] |
Chr12:2757621..2800385 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2224380)_(2800375_?)dup |
duplication |
Long QT syndrome [RCV001373939] |
Chr12:2224380..2800375 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6025C>T (p.Arg2009Trp) |
single nucleotide variant |
Long QT syndrome [RCV001323826] |
Chr12:2688687 [GRCh38] Chr12:2797853 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1057A>G (p.Met353Val) |
single nucleotide variant |
Long QT syndrome [RCV001364638] |
Chr12:2493330 [GRCh38] Chr12:2602496 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2339+5C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002456562]|Long QT syndrome [RCV001364639] |
Chr12:2584622 [GRCh38] Chr12:2693788 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.580G>A (p.Gly194Ser) |
single nucleotide variant |
Long QT syndrome [RCV001315438] |
Chr12:2449078 [GRCh38] Chr12:2558244 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5939G>A (p.Ser1980Asn) |
single nucleotide variant |
Long QT syndrome [RCV001326292] |
Chr12:2688601 [GRCh38] Chr12:2797767 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5929G>C (p.Val1977Leu) |
single nucleotide variant |
Long QT syndrome [RCV001344721] |
Chr12:2688591 [GRCh38] Chr12:2797757 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His) |
single nucleotide variant |
Brugada syndrome 3 [RCV001332568]|CACNA1C-Related Disorder [RCV002245967] |
Chr12:2457643 [GRCh38] Chr12:2566809 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5739C>A (p.Asp1913Glu) |
single nucleotide variant |
Long QT syndrome [RCV001303375] |
Chr12:2686224 [GRCh38] Chr12:2795390 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5567C>G (p.Thr1856Arg) |
single nucleotide variant |
Long QT syndrome [RCV001351848] |
Chr12:2682672 [GRCh38] Chr12:2791838 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1175G>T (p.Gly392Val) |
single nucleotide variant |
Long QT syndrome [RCV001337674] |
Chr12:2504903 [GRCh38] Chr12:2614069 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2954G>T (p.Gly985Val) |
single nucleotide variant |
Long QT syndrome [RCV001323899] |
Chr12:2601954 [GRCh38] Chr12:2711120 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2993G>A (p.Arg998Gln) |
single nucleotide variant |
Long QT syndrome [RCV001323910] |
Chr12:2605113 [GRCh38] Chr12:2714279 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5681G>A (p.Gly1894Asp) |
single nucleotide variant |
Long QT syndrome [RCV001346667] |
Chr12:2686166 [GRCh38] Chr12:2795332 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3912C>T (p.Asn1304=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377552]|Long QT syndrome [RCV001371268] |
Chr12:2634380 [GRCh38] Chr12:2743546 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5038G>A (p.Asp1680Asn) |
single nucleotide variant |
Long QT syndrome [RCV001364893] |
Chr12:2677814 [GRCh38] Chr12:2786980 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6336G>C (p.Glu2112Asp) |
single nucleotide variant |
Long QT syndrome [RCV001364921] |
Chr12:2691118 [GRCh38] Chr12:2800284 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3976A>G (p.Thr1326Ala) |
single nucleotide variant |
Long QT syndrome [RCV001322974] |
Chr12:2651670 [GRCh38] Chr12:2760836 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2103+5G>A |
single nucleotide variant |
Long QT syndrome [RCV001322986] |
Chr12:2581802 [GRCh38] Chr12:2690968 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5325G>A (p.Leu1775=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003294300]|Long QT syndrome [RCV001325426] |
Chr12:2679677 [GRCh38] Chr12:2788843 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4879T>A (p.Tyr1627Asn) |
single nucleotide variant |
Long QT syndrome [RCV001298029] |
Chr12:2677144 [GRCh38] Chr12:2786310 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile) |
single nucleotide variant |
Long QT syndrome [RCV001318737]|not provided [RCV002070147] |
Chr12:2608653 [GRCh38] Chr12:2717819 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395695]|Long QT syndrome [RCV001320210]|not provided [RCV001355329] |
Chr12:2566429 [GRCh38] Chr12:2675595 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4997G>A (p.Arg1666Gln) |
single nucleotide variant |
Long QT syndrome [RCV001300365] |
Chr12:2677773 [GRCh38] Chr12:2786939 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5927G>A (p.Gly1976Glu) |
single nucleotide variant |
Long QT syndrome [RCV001323170] |
Chr12:2688589 [GRCh38] Chr12:2797755 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5417A>G (p.Glu1806Gly) |
single nucleotide variant |
Long QT syndrome [RCV001372672] |
Chr12:2679769 [GRCh38] Chr12:2788935 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2162719)_(2666153_?)dup |
duplication |
Long QT syndrome [RCV001322410] |
Chr12:2162719..2666153 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2558141)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV001322411] |
Chr12:2558141..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2800056)_(2800375_?)dup |
duplication |
Long QT syndrome [RCV001308062] |
Chr12:2800056..2800375 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3764A>G (p.Asn1255Ser) |
single nucleotide variant |
Long QT syndrome [RCV001347829] |
Chr12:2611949 [GRCh38] Chr12:2721115 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2530+5C>T |
single nucleotide variant |
Long QT syndrome [RCV001327097] |
Chr12:2585909 [GRCh38] Chr12:2695075 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1501A>G (p.Lys501Glu) |
single nucleotide variant |
Long QT syndrome [RCV001341533] |
Chr12:2556970 [GRCh38] Chr12:2666136 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6100A>T (p.Ser2034Cys) |
single nucleotide variant |
Long QT syndrome [RCV001321136] |
Chr12:2688762 [GRCh38] Chr12:2797928 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.50G>C (p.Gly17Ala) |
single nucleotide variant |
Long QT syndrome [RCV001321176] |
Chr12:2115224 [GRCh38] Chr12:2224390 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3357-7_3357-5del |
microsatellite |
Long QT syndrome [RCV001350117] |
Chr12:2608499..2608501 [GRCh38] Chr12:2717665..2717667 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6185A>T (p.Glu2062Val) |
single nucleotide variant |
Long QT syndrome [RCV001315234] |
Chr12:2690967 [GRCh38] Chr12:2800133 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5423C>G (p.Ala1808Gly) |
single nucleotide variant |
Long QT syndrome [RCV001298755] |
Chr12:2679775 [GRCh38] Chr12:2788941 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2593C>G (p.Leu865Val) |
single nucleotide variant |
Long QT syndrome [RCV001323680] |
Chr12:2593275 [GRCh38] Chr12:2702441 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.142dup (p.Ala48fs) |
duplication |
Long QT syndrome [RCV001325169] |
Chr12:2115311..2115312 [GRCh38] Chr12:2224477..2224478 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4918G>A (p.Val1640Met) |
single nucleotide variant |
Long QT syndrome [RCV001368430] |
Chr12:2677183 [GRCh38] Chr12:2786349 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4290G>C (p.Lys1430Asn) |
single nucleotide variant |
Long QT syndrome [RCV001314444] |
Chr12:2664882 [GRCh38] Chr12:2774048 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5771T>C (p.Leu1924Pro) |
single nucleotide variant |
Long QT syndrome [RCV001297355] |
Chr12:2686256 [GRCh38] Chr12:2795422 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6356C>A (p.Ala2119Glu) |
single nucleotide variant |
Long QT syndrome [RCV001370039] |
Chr12:2691138 [GRCh38] Chr12:2800304 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298589]|Long QT syndrome [RCV001366387] |
Chr12:2567622 [GRCh38] Chr12:2676788 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357215]|Long QT syndrome [RCV001359434] |
Chr12:2688568 [GRCh38] Chr12:2797734 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.284C>A (p.Thr95Asn) |
single nucleotide variant |
Long QT syndrome [RCV001366638] |
Chr12:2115458 [GRCh38] Chr12:2224624 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5445-586_5445-584delinsTGG |
indel |
not provided [RCV001812621] |
Chr12:2681964..2681966 [GRCh38] Chr12:2791130..2791132 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357095]|Long QT syndrome [RCV001299756]|Timothy syndrome [RCV002499556] |
Chr12:2688753 [GRCh38] Chr12:2797919 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) |
single nucleotide variant |
Timothy syndrome [RCV001281073] |
Chr12:2665618 [GRCh38] Chr12:2774784 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.5387C>T (p.Pro1796Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350700]|Long QT syndrome [RCV001368042] |
Chr12:2679739 [GRCh38] Chr12:2788905 [GRCh37] Chr12:12p13.33 |
benign|likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5404A>G (p.Ile1802Val) |
single nucleotide variant |
Long QT syndrome [RCV001367164] |
Chr12:2679756 [GRCh38] Chr12:2788922 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357253]|Long QT syndrome [RCV001368736] |
Chr12:2688470 [GRCh38] Chr12:2797636 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1068G>A (p.Val356=) |
single nucleotide variant |
Long QT syndrome [RCV001421292] |
Chr12:2493341 [GRCh38] Chr12:2602507 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.11:g.(?_2162719)_(2229606_?)dup |
duplication |
Long QT syndrome [RCV001338284] |
Chr12:2162719..2229606 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5692T>C (p.Ser1898Pro) |
single nucleotide variant |
Long QT syndrome [RCV001338799] |
Chr12:2686177 [GRCh38] Chr12:2795343 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1333G>C (p.Glu445Gln) |
single nucleotide variant |
Long QT syndrome [RCV001367477] |
Chr12:2512927 [GRCh38] Chr12:2622093 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4804G>A (p.Asp1602Asn) |
single nucleotide variant |
Long QT syndrome [RCV001298200] |
Chr12:2674618 [GRCh38] Chr12:2783784 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4941C>G (p.Asn1647Lys) |
single nucleotide variant |
Long QT syndrome [RCV001307761] |
Chr12:2677206 [GRCh38] Chr12:2786372 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4574A>C (p.Gln1525Pro) |
single nucleotide variant |
Long QT syndrome [RCV001371981] |
Chr12:2666733 [GRCh38] Chr12:2775899 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5922T>C (p.Leu1974=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359105]|Long QT syndrome [RCV001494181] |
Chr12:2688584 [GRCh38] Chr12:2797750 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1244C>T (p.Ala415Val) |
single nucleotide variant |
Long QT syndrome [RCV001349227] |
Chr12:2512838 [GRCh38] Chr12:2622004 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002547717]|Long QT syndrome [RCV001359392]|not provided [RCV002260703] |
Chr12:2651689 [GRCh38] Chr12:2760855 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met) |
single nucleotide variant |
Long QT syndrome [RCV001317099]|Timothy syndrome [RCV002486250] |
Chr12:2605727 [GRCh38] Chr12:2714893 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6104G>A (p.Ser2035Asn) |
single nucleotide variant |
Long QT syndrome [RCV001326107] |
Chr12:2688766 [GRCh38] Chr12:2797932 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.101C>A (p.Ala34Glu) |
single nucleotide variant |
Long QT syndrome [RCV001298823] |
Chr12:2115275 [GRCh38] Chr12:2224441 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5858C>T (p.Ala1953Val) |
single nucleotide variant |
Long QT syndrome [RCV001314352] |
Chr12:2688520 [GRCh38] Chr12:2797686 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5455C>T (p.Arg1819Trp) |
single nucleotide variant |
Long QT syndrome [RCV001359657] |
Chr12:2682560 [GRCh38] Chr12:2791726 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2460+1G>A |
single nucleotide variant |
Long QT syndrome [RCV001366037] |
Chr12:2585497 [GRCh38] Chr12:2694663 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2571T>C (p.Pro857=) |
single nucleotide variant |
Long QT syndrome [RCV001474917] |
Chr12:2593253 [GRCh38] Chr12:2702419 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=) |
single nucleotide variant |
Long QT syndrome [RCV001424634]|not provided [RCV001647291] |
Chr12:2691025 [GRCh38] Chr12:2800191 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.747C>T (p.Ser249=) |
single nucleotide variant |
Long QT syndrome [RCV001404558] |
Chr12:2457696 [GRCh38] Chr12:2566862 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4890G>A (p.Lys1630=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342041]|Long QT syndrome [RCV001464328] |
Chr12:2677155 [GRCh38] Chr12:2786321 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1227C>T (p.Ser409=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368485]|Long QT syndrome [RCV001484130] |
Chr12:2512821 [GRCh38] Chr12:2621987 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-294A>G |
single nucleotide variant |
Long QT syndrome [RCV001475207] |
Chr12:2504548 [GRCh38] Chr12:2613714 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_001167623.2(CACNA1C):c.1203C>T (p.Leu401=) |
single nucleotide variant |
Long QT syndrome [RCV001458331] |
Chr12:2504525 [GRCh38] Chr12:2613691 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.360T>C (p.Ile120=) |
single nucleotide variant |
Long QT syndrome [RCV001470386] |
Chr12:2115534 [GRCh38] Chr12:2224700 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3678C>T (p.Phe1226=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458501]|Long QT syndrome [RCV001520489] |
Chr12:2610660 [GRCh38] Chr12:2719826 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.1452C>T (p.Ile484=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396057]|Long QT syndrome [RCV001454290] |
Chr12:2550004 [GRCh38] Chr12:2659170 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5184G>A (p.Leu1728=) |
single nucleotide variant |
Long QT syndrome [RCV001496423] |
Chr12:2679536 [GRCh38] Chr12:2788702 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.198C>T (p.Gly66=) |
single nucleotide variant |
Long QT syndrome [RCV001451879] |
Chr12:2115372 [GRCh38] Chr12:2224538 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-10G>A |
single nucleotide variant |
Long QT syndrome [RCV001452180]|not provided [RCV001597274] |
Chr12:2682540 [GRCh38] Chr12:2791706 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.69A>C (p.Pro23=) |
single nucleotide variant |
Long QT syndrome [RCV001452332] |
Chr12:2115243 [GRCh38] Chr12:2224409 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.123G>A (p.Glu41=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384836]|Long QT syndrome [RCV001499999] |
Chr12:2115297 [GRCh38] Chr12:2224463 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4983C>T (p.Ile1661=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343688]|Long QT syndrome [RCV001502934] |
Chr12:2677759 [GRCh38] Chr12:2786925 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4881C>T (p.Tyr1627=) |
single nucleotide variant |
Long QT syndrome [RCV001475682] |
Chr12:2677146 [GRCh38] Chr12:2786312 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6105C>T (p.Ser2035=) |
single nucleotide variant |
Long QT syndrome [RCV001452711] |
Chr12:2688767 [GRCh38] Chr12:2797933 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.621T>C (p.Leu207=) |
single nucleotide variant |
Long QT syndrome [RCV001489140] |
Chr12:2457570 [GRCh38] Chr12:2566736 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4797G>A (p.Lys1599=) |
single nucleotide variant |
Long QT syndrome [RCV001463628] |
Chr12:2674611 [GRCh38] Chr12:2783777 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5862C>G (p.Thr1954=) |
single nucleotide variant |
Long QT syndrome [RCV001469969] |
Chr12:2688524 [GRCh38] Chr12:2797690 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4527-6T>C |
single nucleotide variant |
Long QT syndrome [RCV001487228] |
Chr12:2666680 [GRCh38] Chr12:2775846 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6054G>A (p.Val2018=) |
single nucleotide variant |
Long QT syndrome [RCV001468472] |
Chr12:2688716 [GRCh38] Chr12:2797882 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2481G>A (p.Gln827=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432107]|Long QT syndrome [RCV001401140] |
Chr12:2585855 [GRCh38] Chr12:2695021 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5092-5T>C |
single nucleotide variant |
Long QT syndrome [RCV001481270]|not provided [RCV001565644] |
Chr12:2679439 [GRCh38] Chr12:2788605 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+116797C>T |
single nucleotide variant |
Long QT syndrome [RCV001518457] |
Chr12:2237227 [GRCh38] Chr12:2346393 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2238T>C (p.Asn746=) |
single nucleotide variant |
Long QT syndrome [RCV001470657] |
Chr12:2584516 [GRCh38] Chr12:2693682 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5535G>A (p.Thr1845=) |
single nucleotide variant |
Long QT syndrome [RCV001480811] |
Chr12:2682640 [GRCh38] Chr12:2791806 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1905C>T (p.Asn635=) |
single nucleotide variant |
Long QT syndrome [RCV001498508] |
Chr12:2581599 [GRCh38] Chr12:2690765 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4920G>A (p.Val1640=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350998]|Long QT syndrome [RCV001484641] |
Chr12:2677185 [GRCh38] Chr12:2786351 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 |
copy number gain |
not provided [RCV001537906] |
Chr12:189145..7730395 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.5293G>A (p.Ala1765Thr) |
single nucleotide variant |
Long QT syndrome [RCV001478629] |
Chr12:2679645 [GRCh38] Chr12:2788811 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2531-7C>T |
single nucleotide variant |
Long QT syndrome [RCV001460292] |
Chr12:2593206 [GRCh38] Chr12:2702372 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.30T>C (p.Ile10=) |
single nucleotide variant |
Long QT syndrome [RCV001411990] |
Chr12:2053592 [GRCh38] Chr12:2162758 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5322C>G (p.Ala1774=) |
single nucleotide variant |
Long QT syndrome [RCV001409369] |
Chr12:2679674 [GRCh38] Chr12:2788840 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4078C>T (p.Leu1360=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322480]|Long QT syndrome [RCV001446076] |
Chr12:2653838 [GRCh38] Chr12:2763004 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.758-7C>T |
single nucleotide variant |
Long QT syndrome [RCV001409630] |
Chr12:2486097 [GRCh38] Chr12:2595263 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5092-4A>G |
single nucleotide variant |
Long QT syndrome [RCV001399845] |
Chr12:2679440 [GRCh38] Chr12:2788606 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5265G>A (p.Pro1755=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160789]|Long QT syndrome [RCV001443915] |
Chr12:2679617 [GRCh38] Chr12:2788783 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4624-8G>T |
single nucleotide variant |
Long QT syndrome [RCV001409882] |
Chr12:2668925 [GRCh38] Chr12:2778091 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1893G>A (p.Thr631=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160757]|Long QT syndrome [RCV001438676] |
Chr12:2567792 [GRCh38] Chr12:2676958 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5247G>A (p.Val1749=) |
single nucleotide variant |
Long QT syndrome [RCV001443726] |
Chr12:2679599 [GRCh38] Chr12:2788765 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5928G>A (p.Gly1976=) |
single nucleotide variant |
Long QT syndrome [RCV001430675] |
Chr12:2688590 [GRCh38] Chr12:2797756 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3489C>T (p.Gly1163=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341936]|Long QT syndrome [RCV001430701] |
Chr12:2608643 [GRCh38] Chr12:2717809 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4215C>T (p.Ala1405=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329502]|Long QT syndrome [RCV001444089] |
Chr12:2655221 [GRCh38] Chr12:2764387 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6030A>G (p.Arg2010=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003170044]|Long QT syndrome [RCV001409974] |
Chr12:2688692 [GRCh38] Chr12:2797858 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1863C>T (p.Cys621=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413942]|Long QT syndrome [RCV001397934] |
Chr12:2567762 [GRCh38] Chr12:2676928 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3356+8T>C |
single nucleotide variant |
Long QT syndrome [RCV001439729] |
Chr12:2607138 [GRCh38] Chr12:2716304 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1578C>T (p.Phe526=) |
single nucleotide variant |
Long QT syndrome [RCV001444057] |
Chr12:2566491 [GRCh38] Chr12:2675657 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4623+9_4623+10del |
deletion |
Long QT syndrome [RCV001436028] |
Chr12:2666790..2666791 [GRCh38] Chr12:2775956..2775957 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.733C>T (p.Leu245=) |
single nucleotide variant |
Long QT syndrome [RCV001418150] |
Chr12:2457682 [GRCh38] Chr12:2566848 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1614G>A (p.Thr538=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395910]|Long QT syndrome [RCV001402733] |
Chr12:2566527 [GRCh38] Chr12:2675693 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3576C>T (p.Tyr1192=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456704]|Long QT syndrome [RCV001429107] |
Chr12:2610558 [GRCh38] Chr12:2719724 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1056C>T (p.Ala352=) |
single nucleotide variant |
Long QT syndrome [RCV001407935] |
Chr12:2493329 [GRCh38] Chr12:2602495 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1167C>T (p.Ile389=) |
single nucleotide variant |
Long QT syndrome [RCV001407937] |
Chr12:2504895 [GRCh38] Chr12:2614061 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4692C>T (p.Ala1564=) |
single nucleotide variant |
Long QT syndrome [RCV001444628] |
Chr12:2669001 [GRCh38] Chr12:2778167 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3168C>T (p.Tyr1056=) |
single nucleotide variant |
Long QT syndrome [RCV001410641] |
Chr12:2606622 [GRCh38] Chr12:2715788 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.944C>T (p.Pro315Leu) |
single nucleotide variant |
not provided [RCV001542075] |
Chr12:2493217 [GRCh38] Chr12:2602383 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2853+216A>G |
single nucleotide variant |
Long QT syndrome [RCV001419091] |
Chr12:2597505 [GRCh38] Chr12:2706671 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6118-9C>A |
single nucleotide variant |
Long QT syndrome [RCV001444747] |
Chr12:2690891 [GRCh38] Chr12:2800057 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4488G>A (p.Glu1496=) |
single nucleotide variant |
Long QT syndrome [RCV001403932] |
Chr12:2665670 [GRCh38] Chr12:2774836 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4842C>T (p.Thr1614=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341967]|Long QT syndrome [RCV001440374] |
Chr12:2677107 [GRCh38] Chr12:2786273 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2715G>T (p.Leu905=) |
single nucleotide variant |
Long QT syndrome [RCV001408331] |
Chr12:2595925 [GRCh38] Chr12:2705091 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4986G>T (p.Gly1662=) |
single nucleotide variant |
Long QT syndrome [RCV001408392] |
Chr12:2677762 [GRCh38] Chr12:2786928 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4887G>A (p.Arg1629=) |
single nucleotide variant |
Long QT syndrome [RCV001402583] |
Chr12:2677152 [GRCh38] Chr12:2786318 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2362C>G (p.Gln788Glu) |
single nucleotide variant |
Long QT syndrome [RCV001428282] |
Chr12:2585398 [GRCh38] Chr12:2694564 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6009G>A (p.Gly2003=) |
single nucleotide variant |
Long QT syndrome [RCV001442445] |
Chr12:2688671 [GRCh38] Chr12:2797837 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+10T>G |
single nucleotide variant |
Long QT syndrome [RCV001411002] |
Chr12:2584627 [GRCh38] Chr12:2693793 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5145G>C (p.Arg1715=) |
single nucleotide variant |
Long QT syndrome [RCV001411043] |
Chr12:2679497 [GRCh38] Chr12:2788663 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.813C>T (p.Ile271=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003284328]|Long QT syndrome [RCV001438931] |
Chr12:2486159 [GRCh38] Chr12:2595325 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5346C>G (p.Ala1782=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350791]|Long QT syndrome [RCV001411386] |
Chr12:2679698 [GRCh38] Chr12:2788864 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2854-337A>G |
single nucleotide variant |
not provided [RCV001535005] |
Chr12:2601517 [GRCh38] Chr12:2710683 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4020G>C (p.Leu1340=) |
single nucleotide variant |
Long QT syndrome [RCV001427290] |
Chr12:2651714 [GRCh38] Chr12:2760880 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6034C>A (p.Arg2012=) |
single nucleotide variant |
Long QT syndrome [RCV001431728] |
Chr12:2688696 [GRCh38] Chr12:2797862 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=) |
single nucleotide variant |
Long QT syndrome [RCV001445365]|not specified [RCV003235575] |
Chr12:2567588 [GRCh38] Chr12:2676754 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4233-4C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002329510]|Long QT syndrome [RCV001447985] |
Chr12:2664821 [GRCh38] Chr12:2773987 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1203C>T (p.Leu401=) |
single nucleotide variant |
Long QT syndrome [RCV001404069] |
Chr12:2504931 [GRCh38] Chr12:2614097 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4440C>T (p.Asp1480=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329442]|Long QT syndrome [RCV001409084] |
Chr12:2665622 [GRCh38] Chr12:2774788 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+8C>A |
single nucleotide variant |
Long QT syndrome [RCV001419985] |
Chr12:2597297 [GRCh38] Chr12:2706463 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-410C>A |
single nucleotide variant |
Long QT syndrome [RCV001406790]|not provided [RCV001713086] |
Chr12:2504432 [GRCh38] Chr12:2613598 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.-77del |
deletion |
not provided [RCV001645174] |
Chr12:2053485 [GRCh38] Chr12:2162651 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1218-210C>T |
single nucleotide variant |
not provided [RCV001675345] |
Chr12:2512602 [GRCh38] Chr12:2621768 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1064C>T (p.Thr355Met) |
single nucleotide variant |
CACNA1C-related condition [RCV003399264]|not provided [RCV001508686] |
Chr12:2493337 [GRCh38] Chr12:2602503 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.129C>T (p.Ile43=) |
single nucleotide variant |
Long QT syndrome [RCV001468651] |
Chr12:2115303 [GRCh38] Chr12:2224469 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_001167623.2(CACNA1C):c.1215C>T (p.Ser405=) |
single nucleotide variant |
Long QT syndrome [RCV001472988] |
Chr12:2504537 [GRCh38] Chr12:2613703 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4410C>G (p.Leu1470=) |
single nucleotide variant |
Long QT syndrome [RCV001454363] |
Chr12:2665592 [GRCh38] Chr12:2774758 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.105A>G (p.Ala35=) |
single nucleotide variant |
Long QT syndrome [RCV001457936] |
Chr12:2115279 [GRCh38] Chr12:2224445 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1683G>A (p.Lys561=) |
single nucleotide variant |
Long QT syndrome [RCV001457643] |
Chr12:2567582 [GRCh38] Chr12:2676748 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.672C>A (p.Leu224=) |
single nucleotide variant |
Long QT syndrome [RCV001469431] |
Chr12:2457621 [GRCh38] Chr12:2566787 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-86del |
deletion |
not provided [RCV001716122] |
Chr12:2634195 [GRCh38] Chr12:2743361 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4074+10C>T |
single nucleotide variant |
Long QT syndrome [RCV001486839] |
Chr12:2651778 [GRCh38] Chr12:2760944 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5202C>G (p.Gly1734=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160903]|Long QT syndrome [RCV001469676] |
Chr12:2679554 [GRCh38] Chr12:2788720 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4893C>T (p.Phe1631=) |
single nucleotide variant |
Long QT syndrome [RCV001462485] |
Chr12:2677158 [GRCh38] Chr12:2786324 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5091+189A>C |
single nucleotide variant |
not provided [RCV001680324] |
Chr12:2678056 [GRCh38] Chr12:2787222 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3829-717_3829-714del |
microsatellite |
not provided [RCV001589525] |
Chr12:2633575..2633578 [GRCh38] Chr12:2742741..2742744 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+9C>G |
single nucleotide variant |
Long QT syndrome [RCV001477203] |
Chr12:2597298 [GRCh38] Chr12:2706464 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3846A>C (p.Ala1282=) |
single nucleotide variant |
Long QT syndrome [RCV001487765] |
Chr12:2634314 [GRCh38] Chr12:2743480 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5444+825A>G |
single nucleotide variant |
not provided [RCV001614537] |
Chr12:2680621 [GRCh38] Chr12:2789787 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5444+774T>C |
single nucleotide variant |
not provided [RCV001618779] |
Chr12:2680570 [GRCh38] Chr12:2789736 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3951A>G (p.Ala1317=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377801]|Long QT syndrome [RCV001470615] |
Chr12:2651645 [GRCh38] Chr12:2760811 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5091+14T>C |
single nucleotide variant |
Long QT syndrome [RCV002538601]|not provided [RCV001680709] |
Chr12:2677881 [GRCh38] Chr12:2787047 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.4075-159C>T |
single nucleotide variant |
not provided [RCV001590082] |
Chr12:2653676 [GRCh38] Chr12:2762842 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298903]|Long QT syndrome [RCV001504477]|Timothy syndrome [RCV002506583] |
Chr12:2677122 [GRCh38] Chr12:2786288 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3912+189del |
deletion |
not provided [RCV001680826] |
Chr12:2634557 [GRCh38] Chr12:2743723 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5680+115dup |
duplication |
not provided [RCV001687931] |
Chr12:2685953..2685954 [GRCh38] Chr12:2795119..2795120 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.5092-40C>T |
single nucleotide variant |
not provided [RCV001592023] |
Chr12:2679404 [GRCh38] Chr12:2788570 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2697C>T (p.Asp899=) |
single nucleotide variant |
Long QT syndrome [RCV001498196] |
Chr12:2595907 [GRCh38] Chr12:2705073 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4141-229C>T |
single nucleotide variant |
not provided [RCV001583177] |
Chr12:2654918 [GRCh38] Chr12:2764084 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg) |
single nucleotide variant |
not provided [RCV001699956] |
Chr12:2605680 [GRCh38] Chr12:2714846 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5444+827C>G |
single nucleotide variant |
not provided [RCV001714475] |
Chr12:2680623 [GRCh38] Chr12:2789789 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.852C>T (p.Ile284=) |
single nucleotide variant |
Long QT syndrome [RCV001501735] |
Chr12:2486198 [GRCh38] Chr12:2595364 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.917-185A>G |
single nucleotide variant |
not provided [RCV001610124] |
Chr12:2493005 [GRCh38] Chr12:2602171 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.2853+217C>T |
single nucleotide variant |
Long QT syndrome [RCV001472663] |
Chr12:2597506 [GRCh38] Chr12:2706672 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1938C>T (p.Asn646=) |
single nucleotide variant |
Long QT syndrome [RCV001399431] |
Chr12:2581632 [GRCh38] Chr12:2690798 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4017G>A (p.Leu1339=) |
single nucleotide variant |
Long QT syndrome [RCV001424971] |
Chr12:2651711 [GRCh38] Chr12:2760877 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5415G>A (p.Gln1805=) |
single nucleotide variant |
Long QT syndrome [RCV001482686] |
Chr12:2679767 [GRCh38] Chr12:2788933 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1434C>T (p.Asn478=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396113]|Long QT syndrome [RCV001469637] |
Chr12:2549986 [GRCh38] Chr12:2659152 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3393C>T (p.Asp1131=) |
single nucleotide variant |
Long QT syndrome [RCV001458393] |
Chr12:2608547 [GRCh38] Chr12:2717713 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1217+10A>C |
single nucleotide variant |
Long QT syndrome [RCV001503100] |
Chr12:2504955 [GRCh38] Chr12:2614121 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4083C>T (p.Pro1361=) |
single nucleotide variant |
Long QT syndrome [RCV001450908] |
Chr12:2653843 [GRCh38] Chr12:2763009 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3483C>T (p.Phe1161=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456894]|Long QT syndrome [RCV001497934] |
Chr12:2608637 [GRCh38] Chr12:2717803 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5785-9T>C |
single nucleotide variant |
Long QT syndrome [RCV001483013] |
Chr12:2688438 [GRCh38] Chr12:2797604 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5343C>T (p.Pro1781=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343705]|Long QT syndrome [RCV001523060] |
Chr12:2679695 [GRCh38] Chr12:2788861 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439189]|Long QT syndrome [RCV001496147]|Timothy syndrome [RCV002501705] |
Chr12:2115459 [GRCh38] Chr12:2224625 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3903C>G (p.Thr1301=) |
single nucleotide variant |
Long QT syndrome [RCV001481669] |
Chr12:2634371 [GRCh38] Chr12:2743537 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2112C>T (p.Thr704=) |
single nucleotide variant |
Long QT syndrome [RCV001488450] |
Chr12:2582830 [GRCh38] Chr12:2691996 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3558+9C>T |
single nucleotide variant |
Long QT syndrome [RCV001496245] |
Chr12:2608721 [GRCh38] Chr12:2717887 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5688G>A (p.Arg1896=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343677]|Long QT syndrome [RCV001498779] |
Chr12:2686173 [GRCh38] Chr12:2795339 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.153G>T (p.Ser51=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160836]|Long QT syndrome [RCV001454166] |
Chr12:2115327 [GRCh38] Chr12:2224493 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3294T>C (p.Phe1098=) |
single nucleotide variant |
Long QT syndrome [RCV001457743] |
Chr12:2607068 [GRCh38] Chr12:2716234 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1023C>T (p.His341=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377805]|Long QT syndrome [RCV001471488] |
Chr12:2493296 [GRCh38] Chr12:2602462 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2794-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002439192]|Long QT syndrome [RCV001497541] |
Chr12:2597225 [GRCh38] Chr12:2706391 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2854-5T>G |
single nucleotide variant |
Long QT syndrome [RCV001484932] |
Chr12:2601849 [GRCh38] Chr12:2711015 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1035C>T (p.Asn345=) |
single nucleotide variant |
Long QT syndrome [RCV001398041] |
Chr12:2493308 [GRCh38] Chr12:2602474 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1669+8G>A |
single nucleotide variant |
Long QT syndrome [RCV001423365] |
Chr12:2566590 [GRCh38] Chr12:2675756 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1717C>T (p.Leu573=) |
single nucleotide variant |
Long QT syndrome [RCV001399840] |
Chr12:2567616 [GRCh38] Chr12:2676782 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2055G>A (p.Arg685=) |
single nucleotide variant |
Long QT syndrome [RCV001425348] |
Chr12:2581749 [GRCh38] Chr12:2690915 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4074+9C>G |
single nucleotide variant |
Long QT syndrome [RCV001427899] |
Chr12:2651777 [GRCh38] Chr12:2760943 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1818G>A (p.Val606=) |
single nucleotide variant |
Long QT syndrome [RCV001407138] |
Chr12:2567717 [GRCh38] Chr12:2676883 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+119988G>C |
single nucleotide variant |
Long QT syndrome [RCV001511447] |
Chr12:2240418 [GRCh38] Chr12:2349584 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3342C>T (p.Phe1114=) |
single nucleotide variant |
Long QT syndrome [RCV001452088] |
Chr12:2607116 [GRCh38] Chr12:2716282 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1179A>G (p.Ser393=) |
single nucleotide variant |
Long QT syndrome [RCV001466434] |
Chr12:2504907 [GRCh38] Chr12:2614073 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4224C>T (p.Leu1408=) |
single nucleotide variant |
Long QT syndrome [RCV001400697] |
Chr12:2655230 [GRCh38] Chr12:2764396 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2368T>C (p.Leu790=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449131]|Long QT syndrome [RCV001416552] |
Chr12:2585404 [GRCh38] Chr12:2694570 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.916+21C>T |
single nucleotide variant |
not provided [RCV001538540] |
Chr12:2486283 [GRCh38] Chr12:2595449 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1470G>A (p.Gly490=) |
single nucleotide variant |
Long QT syndrome [RCV001426215] |
Chr12:2550022 [GRCh38] Chr12:2659188 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4233-5T>G |
single nucleotide variant |
Long QT syndrome [RCV001418510] |
Chr12:2664820 [GRCh38] Chr12:2773986 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2757T>C (p.Ala919=) |
single nucleotide variant |
Long QT syndrome [RCV001401337] |
Chr12:2595967 [GRCh38] Chr12:2705133 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1686C>G (p.Ala562=) |
single nucleotide variant |
Long QT syndrome [RCV001418612] |
Chr12:2567585 [GRCh38] Chr12:2676751 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=) |
single nucleotide variant |
Long QT syndrome [RCV001424654]|not provided [RCV003394046] |
Chr12:2486210 [GRCh38] Chr12:2595376 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1413C>T (p.Thr471=) |
single nucleotide variant |
Long QT syndrome [RCV001505797] |
Chr12:2549965 [GRCh38] Chr12:2659131 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5787A>C (p.Ala1929=) |
single nucleotide variant |
Long QT syndrome [RCV001472524] |
Chr12:2688449 [GRCh38] Chr12:2797615 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1895+7G>C |
single nucleotide variant |
Long QT syndrome [RCV001456652] |
Chr12:2567801 [GRCh38] Chr12:2676967 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1753G>T (p.Val585Leu) |
single nucleotide variant |
not provided [RCV002245106] |
Chr12:2567652 [GRCh38] Chr12:2676818 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser) |
single nucleotide variant |
Autism spectrum disorder [RCV003128039] |
Chr12:2550032 [GRCh38] Chr12:2659198 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.358A>G (p.Ile120Val) |
single nucleotide variant |
See cases [RCV002252821] |
Chr12:2115532 [GRCh38] Chr12:2224698 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2224+19C>T |
single nucleotide variant |
Long QT syndrome [RCV003109050] |
Chr12:2582961 [GRCh38] Chr12:2692127 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.12:g.2044152_2088870del |
deletion |
Motor delay [RCV000853498] |
Chr12:2153318..2198036 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) |
single nucleotide variant |
Timothy syndrome [RCV002249324] |
Chr12:2567752 [GRCh38] Chr12:2676918 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.2664-7C>T |
single nucleotide variant |
Long QT syndrome [RCV002073426]|not provided [RCV001730397]|not specified [RCV001730398] |
Chr12:2595867 [GRCh38] Chr12:2705033 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp) |
single nucleotide variant |
Timothy syndrome [RCV002273183] |
Chr12:2634334 [GRCh38] Chr12:2743500 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2530+4C>T |
single nucleotide variant |
Timothy syndrome type 1 [RCV002273335] |
Chr12:2585908 [GRCh38] Chr12:2695074 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.1160G>C (p.Ser387Thr) |
single nucleotide variant |
not provided [RCV001768963] |
Chr12:2504482 [GRCh38] Chr12:2613648 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn) |
single nucleotide variant |
not provided [RCV001762969] |
Chr12:2608657 [GRCh38] Chr12:2717823 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.1217+12C>G |
single nucleotide variant |
Long QT syndrome [RCV002104378] |
Chr12:2504957 [GRCh38] Chr12:2614123 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.478-10_478-5del |
deletion |
See cases [RCV002252837] |
Chr12:2448962..2448967 [GRCh38] Chr12:2558128..2558133 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2650A>C (p.Ser884Arg) |
single nucleotide variant |
not provided [RCV001758305] |
Chr12:2593332 [GRCh38] Chr12:2702498 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met) |
single nucleotide variant |
not provided [RCV001756470] |
Chr12:2504529 [GRCh38] Chr12:2613695 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.5444+584T>G |
single nucleotide variant |
Timothy syndrome [RCV001785232] |
Chr12:2680380 [GRCh38] Chr12:2789546 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) |
single nucleotide variant |
Timothy syndrome [RCV002503186]|not provided [RCV001754173] |
Chr12:2512975 [GRCh38] Chr12:2622141 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV001764133] |
Chr12:2053563 [GRCh38] Chr12:2162729 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys) |
single nucleotide variant |
not provided [RCV001763222] |
Chr12:2053599 [GRCh38] Chr12:2162765 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2663+1G>A |
single nucleotide variant |
not provided [RCV001758083] |
Chr12:2593346 [GRCh38] Chr12:2702512 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3484G>C (p.Val1162Leu) |
single nucleotide variant |
not provided [RCV001752295] |
Chr12:2608638 [GRCh38] Chr12:2717804 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2302G>A (p.Glu768Lys) |
single nucleotide variant |
not provided [RCV001754694] |
Chr12:2584580 [GRCh38] Chr12:2693746 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.617+1G>A |
single nucleotide variant |
not provided [RCV001773857] |
Chr12:2449116 [GRCh38] Chr12:2558282 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr) |
single nucleotide variant |
Long QT syndrome [RCV001868484]|not provided [RCV001767656] |
Chr12:2677820 [GRCh38] Chr12:2786986 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met) |
single nucleotide variant |
not provided [RCV001767804] |
Chr12:2677127 [GRCh38] Chr12:2786293 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg) |
single nucleotide variant |
Long qt syndrome 8 [RCV002471146]|not provided [RCV001765606] |
Chr12:2679450 [GRCh38] Chr12:2788616 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys) |
single nucleotide variant |
not provided [RCV001767827] |
Chr12:2607039 [GRCh38] Chr12:2716205 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs) |
deletion |
not provided [RCV001774248] |
Chr12:2679699..2679735 [GRCh38] Chr12:2788865..2788901 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter) |
single nucleotide variant |
not provided [RCV001754369] |
Chr12:2605121 [GRCh38] Chr12:2714287 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.362T>C (p.Val121Ala) |
single nucleotide variant |
not provided [RCV001786160] |
Chr12:2115536 [GRCh38] Chr12:2224702 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 |
copy number gain |
Obesity [RCV001801197] |
Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.239_244delinsTTGCAGCTCC (p.Gln80fs) |
indel |
not provided [RCV001751988] |
Chr12:2115413..2115418 [GRCh38] Chr12:2224579..2224584 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp) |
single nucleotide variant |
Long qt syndrome 8 [RCV002290750]|not provided [RCV001773211] |
Chr12:2493243 [GRCh38] Chr12:2602409 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.230G>T (p.Ser77Ile) |
single nucleotide variant |
not provided [RCV001765038] |
Chr12:2115404 [GRCh38] Chr12:2224570 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) |
single nucleotide variant |
not provided [RCV001800107]|not specified [RCV003230696] |
Chr12:2593251 [GRCh38] Chr12:2702417 [GRCh37] Chr12:12p13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) |
single nucleotide variant |
Timothy syndrome [RCV002246476]|not provided [RCV001765427] |
Chr12:2608654 [GRCh38] Chr12:2717820 [GRCh37] Chr12:12p13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala) |
single nucleotide variant |
not provided [RCV001770867] |
Chr12:2585426 [GRCh38] Chr12:2694592 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg) |
single nucleotide variant |
not provided [RCV001771488] |
Chr12:2457569 [GRCh38] Chr12:2566735 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val) |
single nucleotide variant |
not provided [RCV001771510] |
Chr12:2679651 [GRCh38] Chr12:2788817 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2448A>C (p.Pro816=) |
single nucleotide variant |
not provided [RCV001779648] |
Chr12:2585484 [GRCh38] Chr12:2694650 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5091+1G>A |
single nucleotide variant |
not provided [RCV001771086] |
Chr12:2677868 [GRCh38] Chr12:2787034 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5109C>G (p.Phe1703Leu) |
single nucleotide variant |
Timothy syndrome [RCV001771829] |
Chr12:2679461 [GRCh38] Chr12:2788627 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu) |
single nucleotide variant |
Neurodevelopmental delay [RCV001785375] |
Chr12:2448994 [GRCh38] Chr12:2558160 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu) |
single nucleotide variant |
Timothy syndrome [RCV001788505] |
Chr12:2653847 [GRCh38] Chr12:2763013 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.4837G>T (p.Val1613Phe) |
single nucleotide variant |
Long QT syndrome [RCV002001480] |
Chr12:2677102 [GRCh38] Chr12:2786268 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2854-11C>G |
single nucleotide variant |
Brugada syndrome 3 [RCV001733516]|not provided [RCV002477909] |
Chr12:2601843 [GRCh38] Chr12:2711009 [GRCh37] Chr12:12p13.33 |
uncertain significance|no classifications from unflagged records |
NM_000719.7(CACNA1C):c.1274G>A (p.Arg425Gln) |
single nucleotide variant |
not provided [RCV001794635] |
Chr12:2512868 [GRCh38] Chr12:2622034 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2124G>A (p.Trp708Ter) |
single nucleotide variant |
not provided [RCV001756981] |
Chr12:2582842 [GRCh38] Chr12:2692008 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5444+680A>G |
single nucleotide variant |
not provided [RCV001754276] |
Chr12:2680476 [GRCh38] Chr12:2789642 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) |
deletion |
Timothy syndrome [RCV001809305] |
Chr12:2585485 [GRCh38] Chr12:2694651 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.5445-496G>A |
single nucleotide variant |
Timothy syndrome [RCV001809306] |
Chr12:2682054 [GRCh38] Chr12:2791220 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1390A>G (p.Met464Val) |
single nucleotide variant |
Long QT syndrome [RCV001915324] |
Chr12:2512984 [GRCh38] Chr12:2622150 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3048G>A (p.Lys1016=) |
single nucleotide variant |
Long QT syndrome [RCV001891096] |
Chr12:2605168 [GRCh38] Chr12:2714334 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5875C>T (p.Pro1959Ser) |
single nucleotide variant |
Long QT syndrome [RCV001872868] |
Chr12:2688537 [GRCh38] Chr12:2797703 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5419G>A (p.Val1807Met) |
single nucleotide variant |
Long QT syndrome [RCV001896911] |
Chr12:2679771 [GRCh38] Chr12:2788937 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6397G>T (p.Val2133Phe) |
single nucleotide variant |
Long QT syndrome [RCV002009064] |
Chr12:2691179 [GRCh38] Chr12:2800345 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del) |
microsatellite |
Cardiovascular phenotype [RCV002334773]|Long QT syndrome [RCV001864442]|See cases [RCV002252714] |
Chr12:2677841..2677843 [GRCh38] Chr12:2787007..2787009 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2797_2798del (p.Leu933fs) |
deletion |
Long QT syndrome [RCV001864639] |
Chr12:2597232..2597233 [GRCh38] Chr12:2706398..2706399 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly) |
single nucleotide variant |
Seizure [RCV001849839] |
Chr12:2504535 [GRCh38] Chr12:2613701 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.6209C>T (p.Thr2070Ile) |
single nucleotide variant |
Long QT syndrome [RCV001874942] |
Chr12:2690991 [GRCh38] Chr12:2800157 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344025]|Long QT syndrome [RCV001945197]|not specified [RCV003479369] |
Chr12:2679682 [GRCh38] Chr12:2788848 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2664G>A (p.Arg888=) |
single nucleotide variant |
Long QT syndrome [RCV001950059] |
Chr12:2595874 [GRCh38] Chr12:2705040 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6035G>A (p.Arg2012Gln) |
single nucleotide variant |
Long QT syndrome [RCV001874680] |
Chr12:2688697 [GRCh38] Chr12:2797863 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val) |
single nucleotide variant |
Long QT syndrome [RCV002025460]|Timothy syndrome [RCV002492234] |
Chr12:2666717 [GRCh38] Chr12:2775883 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5779C>G (p.His1927Asp) |
single nucleotide variant |
Long QT syndrome [RCV001988346] |
Chr12:2686264 [GRCh38] Chr12:2795430 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val) |
single nucleotide variant |
Long QT syndrome [RCV001969031] |
Chr12:2677208 [GRCh38] Chr12:2786374 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5525A>G (p.Asn1842Ser) |
single nucleotide variant |
Long QT syndrome [RCV002007836] |
Chr12:2682630 [GRCh38] Chr12:2791796 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5048T>C (p.Met1683Thr) |
single nucleotide variant |
Long QT syndrome [RCV001929482] |
Chr12:2677824 [GRCh38] Chr12:2786990 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.164C>A (p.Ala55Asp) |
single nucleotide variant |
Long QT syndrome [RCV001913399] |
Chr12:2115338 [GRCh38] Chr12:2224504 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5380C>T (p.His1794Tyr) |
single nucleotide variant |
Long QT syndrome [RCV001914200] |
Chr12:2679732 [GRCh38] Chr12:2788898 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.513G>A (p.Thr171=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343940]|Long QT syndrome [RCV001872689] |
Chr12:2449011 [GRCh38] Chr12:2558177 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6224A>C (p.Glu2075Ala) |
single nucleotide variant |
Long QT syndrome [RCV002023866] |
Chr12:2691006 [GRCh38] Chr12:2800172 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg) |
single nucleotide variant |
Timothy syndrome [RCV001842260] |
Chr12:2449081 [GRCh38] Chr12:2558247 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4793T>C (p.Met1598Thr) |
single nucleotide variant |
Long QT syndrome [RCV001947954] |
Chr12:2674607 [GRCh38] Chr12:2783773 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352609]|Long QT syndrome [RCV001967560] |
Chr12:2688594 [GRCh38] Chr12:2797760 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449569]|Long QT syndrome [RCV001910200]|Timothy syndrome [RCV002507023] |
Chr12:2585465 [GRCh38] Chr12:2694631 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3311C>G (p.Ala1104Gly) |
single nucleotide variant |
Long QT syndrome [RCV002006872] |
Chr12:2607085 [GRCh38] Chr12:2716251 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4581A>G (p.Pro1527=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334835]|Long QT syndrome [RCV001891744] |
Chr12:2666740 [GRCh38] Chr12:2775906 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1138T>G (p.Trp380Gly) |
single nucleotide variant |
not provided [RCV001837696] |
Chr12:2504866 [GRCh38] Chr12:2614032 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.168C>G (p.Ile56Met) |
single nucleotide variant |
Long QT syndrome [RCV001871267] |
Chr12:2115342 [GRCh38] Chr12:2224508 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) |
copy number gain |
not specified [RCV002052958] |
Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002370632]|Long QT syndrome [RCV002005027] |
Chr12:2486247 [GRCh38] Chr12:2595413 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.991G>A (p.Val331Met) |
single nucleotide variant |
Long QT syndrome [RCV001926753] |
Chr12:2493264 [GRCh38] Chr12:2602430 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala) |
single nucleotide variant |
Long QT syndrome [RCV001871011]|not provided [RCV003481151] |
Chr12:2664871 [GRCh38] Chr12:2774037 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) |
copy number gain |
not specified [RCV002052955] |
Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1 |
pathogenic |
NM_000719.7(CACNA1C):c.356G>A (p.Ser119Asn) |
single nucleotide variant |
Long QT syndrome [RCV002024295] |
Chr12:2115530 [GRCh38] Chr12:2224696 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3663C>G (p.Phe1221Leu) |
single nucleotide variant |
Long QT syndrome [RCV002007793] |
Chr12:2610645 [GRCh38] Chr12:2719811 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-13C>T |
single nucleotide variant |
Long QT syndrome [RCV001947048] |
Chr12:2651627 [GRCh38] Chr12:2760793 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5047A>G (p.Met1683Val) |
single nucleotide variant |
Long QT syndrome [RCV001863398] |
Chr12:2677823 [GRCh38] Chr12:2786989 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.662C>G (p.Ala221Gly) |
single nucleotide variant |
Long QT syndrome [RCV002024126] |
Chr12:2457611 [GRCh38] Chr12:2566777 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3140G>C (p.Gly1047Ala) |
single nucleotide variant |
Long QT syndrome [RCV001910441] |
Chr12:2605770 [GRCh38] Chr12:2714936 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5728C>G (p.Arg1910Gly) |
single nucleotide variant |
Long QT syndrome [RCV001889778] |
Chr12:2686213 [GRCh38] Chr12:2795379 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2019715-2674054) |
copy number gain |
not specified [RCV002052962] |
Chr12:2019715..2674054 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3262C>G (p.Pro1088Ala) |
single nucleotide variant |
Long QT syndrome [RCV001948162] |
Chr12:2607036 [GRCh38] Chr12:2716202 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6320G>T (p.Arg2107Leu) |
single nucleotide variant |
Long QT syndrome [RCV001985556] |
Chr12:2691102 [GRCh38] Chr12:2800268 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3590G>A (p.Arg1197Gln) |
single nucleotide variant |
Long QT syndrome [RCV001873075] |
Chr12:2610572 [GRCh38] Chr12:2719738 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5091+4G>C |
single nucleotide variant |
Long QT syndrome [RCV002039496] |
Chr12:2677871 [GRCh38] Chr12:2787037 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5264C>T (p.Pro1755Leu) |
single nucleotide variant |
Long QT syndrome [RCV002044458] |
Chr12:2679616 [GRCh38] Chr12:2788782 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4966C>A (p.Arg1656Ser) |
single nucleotide variant |
Long QT syndrome [RCV001986438] |
Chr12:2677742 [GRCh38] Chr12:2786908 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359321]|Long QT syndrome [RCV001870858] |
Chr12:2688579 [GRCh38] Chr12:2797745 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.6102C>A (p.Ser2034Arg) |
single nucleotide variant |
Long QT syndrome [RCV002003388] |
Chr12:2688764 [GRCh38] Chr12:2797930 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6332_6333del (p.Glu2111fs) |
deletion |
Long QT syndrome [RCV001926548] |
Chr12:2691114..2691115 [GRCh38] Chr12:2800280..2800281 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4726+8C>T |
single nucleotide variant |
Long QT syndrome [RCV001968357] |
Chr12:2669043 [GRCh38] Chr12:2778209 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3718-3C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002344074]|Long QT syndrome [RCV001948414] |
Chr12:2611900 [GRCh38] Chr12:2721066 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) |
copy number gain |
not specified [RCV002052957] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) |
copy number loss |
not specified [RCV002052963] |
Chr12:2790077..5325700 [GRCh37] Chr12:12p13.33-13.32 |
pathogenic |
NM_000719.7(CACNA1C):c.5893C>T (p.Pro1965Ser) |
single nucleotide variant |
Long QT syndrome [RCV001966009] |
Chr12:2688555 [GRCh38] Chr12:2797721 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6253G>A (p.Gly2085Ser) |
single nucleotide variant |
Long QT syndrome [RCV001890252] |
Chr12:2691035 [GRCh38] Chr12:2800201 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1769G>A (p.Arg590His) |
single nucleotide variant |
Long QT syndrome [RCV001891488] |
Chr12:2567668 [GRCh38] Chr12:2676834 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.313C>T (p.Leu105Phe) |
single nucleotide variant |
Long QT syndrome [RCV001938803] |
Chr12:2115487 [GRCh38] Chr12:2224653 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2606A>G (p.Glu869Gly) |
single nucleotide variant |
Long QT syndrome [RCV001973928] |
Chr12:2593288 [GRCh38] Chr12:2702454 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352689]|Long QT syndrome [RCV001973959] |
Chr12:2690936 [GRCh38] Chr12:2800102 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.574C>T (p.Arg192Cys) |
single nucleotide variant |
Long QT syndrome [RCV001953015] |
Chr12:2449072 [GRCh38] Chr12:2558238 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1599G>A (p.Leu533=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398021]|Long QT syndrome [RCV001997767] |
Chr12:2566512 [GRCh38] Chr12:2675678 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1367T>G (p.Met456Arg) |
single nucleotide variant |
Long QT syndrome [RCV002017748] |
Chr12:2512961 [GRCh38] Chr12:2622127 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_1949885)_(2229616_?)dup |
duplication |
not provided [RCV001962502] |
Chr12:1949885..2229616 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6087C>G (p.Phe2029Leu) |
single nucleotide variant |
Long QT syndrome [RCV001963408] |
Chr12:2688749 [GRCh38] Chr12:2797915 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5978_5992del (p.Gly1993_Thr1998delinsAla) |
deletion |
Long QT syndrome [RCV002036889] |
Chr12:2688640..2688654 [GRCh38] Chr12:2797806..2797820 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2162729)_(2229616_?)del |
deletion |
Long QT syndrome [RCV001981849] |
Chr12:2162729..2229616 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2103+20G>A |
single nucleotide variant |
Long QT syndrome [RCV001941360] |
Chr12:2581817 [GRCh38] Chr12:2690983 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4967G>A (p.Arg1656His) |
single nucleotide variant |
Long QT syndrome [RCV001879115] |
Chr12:2677743 [GRCh38] Chr12:2786909 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3552G>T (p.Lys1184Asn) |
single nucleotide variant |
Long QT syndrome [RCV001876700] |
Chr12:2608706 [GRCh38] Chr12:2717872 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6364_6372del (p.Arg2122_Ser2124del) |
deletion |
Long QT syndrome [RCV002033211] |
Chr12:2691144..2691152 [GRCh38] Chr12:2800310..2800318 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5716C>T (p.Arg1906Ter) |
single nucleotide variant |
Long QT syndrome [RCV001940736] |
Chr12:2686201 [GRCh38] Chr12:2795367 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2663+4T>G |
single nucleotide variant |
Long QT syndrome [RCV001888681] |
Chr12:2593349 [GRCh38] Chr12:2702515 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4949C>G (p.Ser1650Cys) |
single nucleotide variant |
Long QT syndrome [RCV001886832] |
Chr12:2677214 [GRCh38] Chr12:2786380 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5413C>G (p.Gln1805Glu) |
single nucleotide variant |
Long QT syndrome [RCV001879536] |
Chr12:2679765 [GRCh38] Chr12:2788931 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val) |
single nucleotide variant |
Long QT syndrome [RCV002036833]|Timothy syndrome [RCV002493991] |
Chr12:2688649 [GRCh38] Chr12:2797815 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5252C>G (p.Ser1751Cys) |
single nucleotide variant |
Long QT syndrome [RCV001931929] |
Chr12:2679604 [GRCh38] Chr12:2788770 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5529T>G (p.His1843Gln) |
single nucleotide variant |
Long QT syndrome [RCV001888340] |
Chr12:2682634 [GRCh38] Chr12:2791800 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5344G>C (p.Ala1782Pro) |
single nucleotide variant |
Long QT syndrome [RCV001885893] |
Chr12:2679696 [GRCh38] Chr12:2788862 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg) |
single nucleotide variant |
Long QT syndrome [RCV001981936]|Timothy syndrome [RCV002479488] |
Chr12:2688514 [GRCh38] Chr12:2797680 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.520G>C (p.Ala174Pro) |
single nucleotide variant |
Long QT syndrome [RCV001886566] |
Chr12:2449018 [GRCh38] Chr12:2558184 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3080G>A (p.Arg1027Gln) |
single nucleotide variant |
Long QT syndrome [RCV001943764] |
Chr12:2605710 [GRCh38] Chr12:2714876 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458787]|Long QT syndrome [RCV001925998] |
Chr12:2585482 [GRCh38] Chr12:2694648 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1171A>C (p.Ile391Leu) |
single nucleotide variant |
Long QT syndrome [RCV001957520] |
Chr12:2504899 [GRCh38] Chr12:2614065 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln) |
single nucleotide variant |
Long QT syndrome [RCV002011555]|Timothy syndrome [RCV003330105] |
Chr12:2674598 [GRCh38] Chr12:2783764 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2885G>A (p.Gly962Asp) |
single nucleotide variant |
Long QT syndrome [RCV001934812] |
Chr12:2601885 [GRCh38] Chr12:2711051 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2794882)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV002014323] |
Chr12:2794882..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser) |
single nucleotide variant |
Long QT syndrome [RCV001903033]|not provided [RCV002300619] |
Chr12:2611933 [GRCh38] Chr12:2721099 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5270G>A (p.Ser1757Asn) |
single nucleotide variant |
Long QT syndrome [RCV002015532] |
Chr12:2679622 [GRCh38] Chr12:2788788 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331537]|Long QT syndrome [RCV001975182]|not provided [RCV003395323] |
Chr12:2665682 [GRCh38] Chr12:2774848 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.268A>C (p.Lys90Gln) |
single nucleotide variant |
Long QT syndrome [RCV001989759] |
Chr12:2115442 [GRCh38] Chr12:2224608 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4970C>A (p.Thr1657Lys) |
single nucleotide variant |
Long QT syndrome [RCV001957590] |
Chr12:2677746 [GRCh38] Chr12:2786912 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2558122)_(2566892_?)dup |
duplication |
Long QT syndrome [RCV002014322] |
Chr12:2558122..2566892 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5889C>T (p.Gly1963=) |
single nucleotide variant |
Long QT syndrome [RCV001991119] |
Chr12:2688551 [GRCh38] Chr12:2797717 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1302C>G (p.Leu434=) |
single nucleotide variant |
Long QT syndrome [RCV001954284] |
Chr12:2512896 [GRCh38] Chr12:2622062 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4511A>G (p.Tyr1504Cys) |
single nucleotide variant |
Long QT syndrome [RCV001878923] |
Chr12:2665693 [GRCh38] Chr12:2774859 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4074+6C>T |
single nucleotide variant |
Long QT syndrome [RCV001881071]|Long qt syndrome 8 [RCV002471175]|not provided [RCV002225946] |
Chr12:2651774 [GRCh38] Chr12:2760940 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5917C>G (p.Arg1973Gly) |
single nucleotide variant |
Long QT syndrome [RCV001936434] |
Chr12:2688579 [GRCh38] Chr12:2797745 [GRCh37] Chr12:12p13.33 |
benign|uncertain significance |
NM_000719.7(CACNA1C):c.1384C>T (p.Arg462Ter) |
single nucleotide variant |
Long QT syndrome [RCV001972966] |
Chr12:2512978 [GRCh38] Chr12:2622144 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5612T>G (p.Leu1871Arg) |
single nucleotide variant |
Long QT syndrome [RCV002033531] |
Chr12:2685774 [GRCh38] Chr12:2794940 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6169G>A (p.Glu2057Lys) |
single nucleotide variant |
Long QT syndrome [RCV001954521] |
Chr12:2690951 [GRCh38] Chr12:2800117 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1229A>G (p.Lys410Arg) |
single nucleotide variant |
Long QT syndrome [RCV001881172] |
Chr12:2512823 [GRCh38] Chr12:2621989 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1624G>T (p.Ala542Ser) |
single nucleotide variant |
Long QT syndrome [RCV001989062] |
Chr12:2566537 [GRCh38] Chr12:2675703 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2572C>T (p.Arg858Cys) |
single nucleotide variant |
Long QT syndrome [RCV001933180] |
Chr12:2593254 [GRCh38] Chr12:2702420 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2408A>C (p.Lys803Thr) |
single nucleotide variant |
Long QT syndrome [RCV001957939] |
Chr12:2585444 [GRCh38] Chr12:2694610 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346259]|Long QT syndrome [RCV001989222] |
Chr12:2679672 [GRCh38] Chr12:2788838 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2460+5G>C |
single nucleotide variant |
Long QT syndrome [RCV001990552] |
Chr12:2585501 [GRCh38] Chr12:2694667 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2339+9C>G |
single nucleotide variant |
Long QT syndrome [RCV001936128] |
Chr12:2584626 [GRCh38] Chr12:2693792 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2558132)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV001916139] |
Chr12:2558132..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5460G>C (p.Glu1820Asp) |
single nucleotide variant |
Long QT syndrome [RCV002011321] |
Chr12:2682565 [GRCh38] Chr12:2791731 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2162729)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV001916137] |
Chr12:2162729..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5693C>T (p.Ser1898Phe) |
single nucleotide variant |
Long QT syndrome [RCV001881421] |
Chr12:2686178 [GRCh38] Chr12:2795344 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331358]|Long QT syndrome [RCV001866923]|Timothy syndrome [RCV002503385] |
Chr12:2664973 [GRCh38] Chr12:2774139 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.62G>C (p.Gly21Ala) |
single nucleotide variant |
Long QT syndrome [RCV001973759] |
Chr12:2115236 [GRCh38] Chr12:2224402 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.241C>T (p.Arg81Trp) |
single nucleotide variant |
Long QT syndrome [RCV002013917] |
Chr12:2115415 [GRCh38] Chr12:2224581 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2339+6C>T |
single nucleotide variant |
Long QT syndrome [RCV002046511] |
Chr12:2584623 [GRCh38] Chr12:2693789 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3945+17C>T |
single nucleotide variant |
Long QT syndrome [RCV001951485] |
Chr12:2648524 [GRCh38] Chr12:2757690 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5992A>G (p.Thr1998Ala) |
single nucleotide variant |
Long QT syndrome [RCV002029425] |
Chr12:2688654 [GRCh38] Chr12:2797820 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6331G>A (p.Glu2111Lys) |
single nucleotide variant |
Long QT syndrome [RCV001981163] |
Chr12:2691113 [GRCh38] Chr12:2800279 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.179G>C (p.Arg60Pro) |
single nucleotide variant |
Long QT syndrome [RCV002027099] |
Chr12:2115353 [GRCh38] Chr12:2224519 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.664A>G (p.Asn222Asp) |
single nucleotide variant |
Long QT syndrome [RCV001952024] |
Chr12:2457613 [GRCh38] Chr12:2566779 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1141C>A (p.Pro381Thr) |
single nucleotide variant |
Long QT syndrome [RCV001955887] |
Chr12:2504869 [GRCh38] Chr12:2614035 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6251G>A (p.Gly2084Glu) |
single nucleotide variant |
Long QT syndrome [RCV001940907] |
Chr12:2691033 [GRCh38] Chr12:2800199 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2659099)_(2695080_?)dup |
duplication |
Long QT syndrome [RCV001875109] |
Chr12:2659099..2695080 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4830T>G (p.Asp1610Glu) |
single nucleotide variant |
Long QT syndrome [RCV002019615] |
Chr12:2677095 [GRCh38] Chr12:2786261 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.914C>G (p.Ala305Gly) |
single nucleotide variant |
Long QT syndrome [RCV001952317] |
Chr12:2486260 [GRCh38] Chr12:2595426 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1397T>C (p.Met466Thr) |
single nucleotide variant |
Long QT syndrome [RCV002029982] |
Chr12:2549949 [GRCh38] Chr12:2659115 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2069A>G (p.Asp690Gly) |
single nucleotide variant |
Long QT syndrome [RCV001879394] |
Chr12:2581763 [GRCh38] Chr12:2690929 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3416G>A (p.Arg1139His) |
single nucleotide variant |
Long QT syndrome [RCV001978006] |
Chr12:2608570 [GRCh38] Chr12:2717736 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6399C>G (p.Val2133=) |
single nucleotide variant |
Long QT syndrome [RCV002033932] |
Chr12:2691181 [GRCh38] Chr12:2800347 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5989G>T (p.Glu1997Ter) |
single nucleotide variant |
Long QT syndrome [RCV001876871] |
Chr12:2688651 [GRCh38] Chr12:2797817 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397800]|Long QT syndrome [RCV001899775] |
Chr12:2115335 [GRCh38] Chr12:2224501 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2794882)_(2800365_?)del |
deletion |
Long QT syndrome [RCV001934417] |
Chr12:2794882..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425180]|Long QT syndrome [RCV001875356] |
Chr12:2585880 [GRCh38] Chr12:2695046 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3534G>T (p.Lys1178Asn) |
single nucleotide variant |
Long QT syndrome [RCV001977253] |
Chr12:2608688 [GRCh38] Chr12:2717854 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5666G>A (p.Arg1889His) |
single nucleotide variant |
Long QT syndrome [RCV001883550] |
Chr12:2685828 [GRCh38] Chr12:2794994 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458934]|Long QT syndrome [RCV002030253] |
Chr12:2608540 [GRCh38] Chr12:2717706 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1099G>A (p.Asp367Asn) |
single nucleotide variant |
Long QT syndrome [RCV002048866] |
Chr12:2493372 [GRCh38] Chr12:2602538 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6212T>C (p.Ile2071Thr) |
single nucleotide variant |
Long QT syndrome [RCV001904933] |
Chr12:2690994 [GRCh38] Chr12:2800160 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6100A>G (p.Ser2034Gly) |
single nucleotide variant |
Long QT syndrome [RCV002017431] |
Chr12:2688762 [GRCh38] Chr12:2797928 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6158C>T (p.Pro2053Leu) |
single nucleotide variant |
Long QT syndrome [RCV001900003] |
Chr12:2690940 [GRCh38] Chr12:2800106 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5687G>A (p.Arg1896Lys) |
single nucleotide variant |
Long QT syndrome [RCV002051466] |
Chr12:2686172 [GRCh38] Chr12:2795338 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3718-10C>A |
single nucleotide variant |
Long QT syndrome [RCV001902552] |
Chr12:2611893 [GRCh38] Chr12:2721059 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3002G>A (p.Arg1001Gln) |
single nucleotide variant |
Long QT syndrome [RCV001924951] |
Chr12:2605122 [GRCh38] Chr12:2714288 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2792A>G (p.His931Arg) |
single nucleotide variant |
Long QT syndrome [RCV002026629] |
Chr12:2596002 [GRCh38] Chr12:2705168 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352687]|Long QT syndrome [RCV001976462] |
Chr12:2688565 [GRCh38] Chr12:2797731 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2563G>A (p.Val855Ile) |
single nucleotide variant |
Long QT syndrome [RCV001975455] |
Chr12:2593245 [GRCh38] Chr12:2702411 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4901G>A (p.Arg1634His) |
single nucleotide variant |
Long QT syndrome [RCV001900623] |
Chr12:2677166 [GRCh38] Chr12:2786332 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334878]|Long QT syndrome [RCV001923279]|not provided [RCV003326594] |
Chr12:2679532 [GRCh38] Chr12:2788698 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5276C>T (p.Ser1759Leu) |
single nucleotide variant |
Long QT syndrome [RCV001923760] |
Chr12:2679628 [GRCh38] Chr12:2788794 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361148]|Long QT syndrome [RCV001883470] |
Chr12:2691111 [GRCh38] Chr12:2800277 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4653C>G (p.Asn1551Lys) |
single nucleotide variant |
Long QT syndrome [RCV002034983] |
Chr12:2668962 [GRCh38] Chr12:2778128 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458799]|Long QT syndrome [RCV001923447] |
Chr12:2608710 [GRCh38] Chr12:2717876 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003170069]|Long QT syndrome [RCV001960388] |
Chr12:2493244 [GRCh38] Chr12:2602410 [GRCh37] Chr12:12p13.33 |
likely pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344014]|Long QT syndrome [RCV001939964] |
Chr12:2685738 [GRCh38] Chr12:2794904 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6013A>G (p.Ser2005Gly) |
single nucleotide variant |
Long QT syndrome [RCV001999062] |
Chr12:2688675 [GRCh38] Chr12:2797841 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2376G>T (p.Glu792Asp) |
single nucleotide variant |
Long QT syndrome [RCV001997828] |
Chr12:2585412 [GRCh38] Chr12:2694578 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5632G>A (p.Asp1878Asn) |
single nucleotide variant |
Long QT syndrome [RCV001998377] |
Chr12:2685794 [GRCh38] Chr12:2794960 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6312_6344del (p.Gln2105_Gly2115del) |
deletion |
Long QT syndrome [RCV002009513] |
Chr12:2691085..2691117 [GRCh38] Chr12:2800251..2800283 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.478-3T>C |
single nucleotide variant |
Long QT syndrome [RCV001989934] |
Chr12:2448973 [GRCh38] Chr12:2558139 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423250]|Long QT syndrome [RCV002011474] |
Chr12:2581739 [GRCh38] Chr12:2690905 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_2800046)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV001991946] |
Chr12:2800046..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2380C>T (p.Pro794Ser) |
single nucleotide variant |
Long QT syndrome [RCV002050615] |
Chr12:2585416 [GRCh38] Chr12:2694582 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4577C>T (p.Pro1526Leu) |
single nucleotide variant |
Long QT syndrome [RCV001917269] |
Chr12:2666736 [GRCh38] Chr12:2775902 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5849G>A (p.Arg1950Lys) |
single nucleotide variant |
Long QT syndrome [RCV001899496] |
Chr12:2688511 [GRCh38] Chr12:2797677 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5995A>G (p.Thr1999Ala) |
single nucleotide variant |
Long QT syndrome [RCV001952514] |
Chr12:2688657 [GRCh38] Chr12:2797823 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6231G>A (p.Ala2077=) |
single nucleotide variant |
Long QT syndrome [RCV002128524] |
Chr12:2691013 [GRCh38] Chr12:2800179 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4140+19C>T |
single nucleotide variant |
Long QT syndrome [RCV002148539] |
Chr12:2653919 [GRCh38] Chr12:2763085 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1980C>A (p.Leu660=) |
single nucleotide variant |
Long QT syndrome [RCV002130077] |
Chr12:2581674 [GRCh38] Chr12:2690840 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4080G>A (p.Leu1360=) |
single nucleotide variant |
Long QT syndrome [RCV002166088] |
Chr12:2653840 [GRCh38] Chr12:2763006 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3324C>A (p.Leu1108=) |
single nucleotide variant |
Long QT syndrome [RCV002076397] |
Chr12:2607098 [GRCh38] Chr12:2716264 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5994C>G (p.Thr1998=) |
single nucleotide variant |
Long QT syndrome [RCV002193062] |
Chr12:2688656 [GRCh38] Chr12:2797822 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3210-13C>A |
single nucleotide variant |
Long QT syndrome [RCV002088516] |
Chr12:2606971 [GRCh38] Chr12:2716137 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.478-10T>C |
single nucleotide variant |
Long QT syndrome [RCV002075563] |
Chr12:2448966 [GRCh38] Chr12:2558132 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4582C>T (p.Leu1528=) |
single nucleotide variant |
Long QT syndrome [RCV002124389] |
Chr12:2666741 [GRCh38] Chr12:2775907 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2854-14G>T |
single nucleotide variant |
Long QT syndrome [RCV002105403] |
Chr12:2601840 [GRCh38] Chr12:2711006 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.741G>C (p.Leu247=) |
single nucleotide variant |
Long QT syndrome [RCV002190542] |
Chr12:2457690 [GRCh38] Chr12:2566856 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6122dup (p.Leu2041fs) |
duplication |
not provided [RCV002224240] |
Chr12:2690902..2690903 [GRCh38] Chr12:2800068..2800069 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5220T>G (p.Thr1740=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346470]|Long QT syndrome [RCV002086396] |
Chr12:2679572 [GRCh38] Chr12:2788738 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664-19T>C |
single nucleotide variant |
Long QT syndrome [RCV002190743] |
Chr12:2595855 [GRCh38] Chr12:2705021 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=) |
single nucleotide variant |
Long QT syndrome [RCV002090695]|Timothy syndrome [RCV002498299] |
Chr12:2691064 [GRCh38] Chr12:2800230 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4656C>T (p.Ser1552=) |
single nucleotide variant |
Long QT syndrome [RCV002072822] |
Chr12:2668965 [GRCh38] Chr12:2778131 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.50-14C>A |
single nucleotide variant |
Long QT syndrome [RCV002185212] |
Chr12:2115210 [GRCh38] Chr12:2224376 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6118-10G>T |
single nucleotide variant |
Long QT syndrome [RCV002185213] |
Chr12:2690890 [GRCh38] Chr12:2800056 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4141-11C>A |
single nucleotide variant |
Long QT syndrome [RCV002107554] |
Chr12:2655136 [GRCh38] Chr12:2764302 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161615]|Long QT syndrome [RCV002126085] |
Chr12:2504943 [GRCh38] Chr12:2614109 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.2024G>A (p.Gly675Glu) |
single nucleotide variant |
not provided [RCV002224525] |
Chr12:2581718 [GRCh38] Chr12:2690884 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1597C>T (p.Leu533=) |
single nucleotide variant |
Long QT syndrome [RCV002209566] |
Chr12:2566510 [GRCh38] Chr12:2675676 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2663+15T>G |
single nucleotide variant |
Long QT syndrome [RCV002207623] |
Chr12:2593360 [GRCh38] Chr12:2702526 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4102G>T (p.Val1368Leu) |
single nucleotide variant |
Long QT syndrome [RCV003093870]|not provided [RCV002223380] |
Chr12:2653862 [GRCh38] Chr12:2763028 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5444+20C>T |
single nucleotide variant |
Long QT syndrome [RCV002190248] |
Chr12:2679816 [GRCh38] Chr12:2788982 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003089179]|not provided [RCV002223585] |
Chr12:2674604 [GRCh38] Chr12:2783770 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.603A>C (p.Ile201=) |
single nucleotide variant |
Long QT syndrome [RCV002165883] |
Chr12:2449101 [GRCh38] Chr12:2558267 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1669+9C>T |
single nucleotide variant |
Long QT syndrome [RCV002091431] |
Chr12:2566591 [GRCh38] Chr12:2675757 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3087C>T (p.Ile1029=) |
single nucleotide variant |
Long QT syndrome [RCV002125311] |
Chr12:2605717 [GRCh38] Chr12:2714883 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4446G>C (p.Leu1482=) |
single nucleotide variant |
Long QT syndrome [RCV002164810] |
Chr12:2665628 [GRCh38] Chr12:2774794 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3912+9A>C |
single nucleotide variant |
Long QT syndrome [RCV002085116] |
Chr12:2634389 [GRCh38] Chr12:2743555 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3405C>A (p.Ile1135=) |
single nucleotide variant |
Long QT syndrome [RCV002087387] |
Chr12:2608559 [GRCh38] Chr12:2717725 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4399-20C>T |
single nucleotide variant |
Long QT syndrome [RCV002130317] |
Chr12:2665561 [GRCh38] Chr12:2774727 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2268G>T (p.Leu756=) |
single nucleotide variant |
Long QT syndrome [RCV002112041] |
Chr12:2584546 [GRCh38] Chr12:2693712 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) |
single nucleotide variant |
Timothy syndrome [RCV002249323] |
Chr12:2449093 [GRCh38] Chr12:2558259 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.916+8G>A |
single nucleotide variant |
Long QT syndrome [RCV002089084] |
Chr12:2486270 [GRCh38] Chr12:2595436 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) |
single nucleotide variant |
Timothy syndrome [RCV002487007]|not provided [RCV002223412] |
Chr12:2449034 [GRCh38] Chr12:2558200 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4527-14C>T |
single nucleotide variant |
Long QT syndrome [RCV002106725] |
Chr12:2666672 [GRCh38] Chr12:2775838 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+14C>T |
single nucleotide variant |
Long QT syndrome [RCV002104638] |
Chr12:2120444 [GRCh38] Chr12:2229610 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3691C>T (p.Leu1231Phe) |
single nucleotide variant |
not provided [RCV002224524] |
Chr12:2610673 [GRCh38] Chr12:2719839 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3210-19C>A |
single nucleotide variant |
Long QT syndrome [RCV002189788] |
Chr12:2606965 [GRCh38] Chr12:2716131 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.916+15C>T |
single nucleotide variant |
Long QT syndrome [RCV002124924] |
Chr12:2486277 [GRCh38] Chr12:2595443 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3752T>C (p.Met1251Thr) |
single nucleotide variant |
not provided [RCV002223587] |
Chr12:2611937 [GRCh38] Chr12:2721103 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=) |
single nucleotide variant |
Long QT syndrome [RCV002071272] |
Chr12:2655191 [GRCh38] Chr12:2764357 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.876G>A (p.Gly292=) |
single nucleotide variant |
Long QT syndrome [RCV002167300] |
Chr12:2486222 [GRCh38] Chr12:2595388 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5286C>G (p.Gly1762=) |
single nucleotide variant |
Long QT syndrome [RCV002189958] |
Chr12:2679638 [GRCh38] Chr12:2788804 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1509-13G>C |
single nucleotide variant |
Long QT syndrome [RCV002086862] |
Chr12:2566409 [GRCh38] Chr12:2675575 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.204T>A (p.Ala68=) |
single nucleotide variant |
Long QT syndrome [RCV002167351] |
Chr12:2115378 [GRCh38] Chr12:2224544 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.617+11C>T |
single nucleotide variant |
Long QT syndrome [RCV002189887] |
Chr12:2449126 [GRCh38] Chr12:2558292 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3945+18G>A |
single nucleotide variant |
Long QT syndrome [RCV002188931] |
Chr12:2648525 [GRCh38] Chr12:2757691 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_001167623.2(CACNA1C):c.1212G>A (p.Leu404=) |
single nucleotide variant |
Long QT syndrome [RCV002091187] |
Chr12:2504534 [GRCh38] Chr12:2613700 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-9C>T |
single nucleotide variant |
Long QT syndrome [RCV002108532] |
Chr12:2634288 [GRCh38] Chr12:2743454 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.50-10T>G |
single nucleotide variant |
Long QT syndrome [RCV002075085] |
Chr12:2115214 [GRCh38] Chr12:2224380 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.757+11C>T |
single nucleotide variant |
Long QT syndrome [RCV002205636] |
Chr12:2457717 [GRCh38] Chr12:2566883 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3357-16C>A |
single nucleotide variant |
Long QT syndrome [RCV002111516] |
Chr12:2608495 [GRCh38] Chr12:2717661 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2394A>G (p.Glu798=) |
single nucleotide variant |
Long QT syndrome [RCV002104837] |
Chr12:2585430 [GRCh38] Chr12:2694596 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1481+13G>A |
single nucleotide variant |
Long QT syndrome [RCV002165084] |
Chr12:2550046 [GRCh38] Chr12:2659212 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.49+1G>A |
single nucleotide variant |
not provided [RCV002224250] |
Chr12:2053612 [GRCh38] Chr12:2162778 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2289A>T (p.Thr763=) |
single nucleotide variant |
Long QT syndrome [RCV002210648] |
Chr12:2584567 [GRCh38] Chr12:2693733 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4957-15C>T |
single nucleotide variant |
Long QT syndrome [RCV002074962]|Timothy syndrome [RCV002500113] |
Chr12:2677718 [GRCh38] Chr12:2786884 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3628T>C (p.Tyr1210His) |
single nucleotide variant |
not provided [RCV002224339] |
Chr12:2610610 [GRCh38] Chr12:2719776 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6063G>A (p.Gln2021=) |
single nucleotide variant |
Long QT syndrome [RCV002086394] |
Chr12:2688725 [GRCh38] Chr12:2797891 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5785-15C>A |
single nucleotide variant |
Long QT syndrome [RCV002214764] |
Chr12:2688432 [GRCh38] Chr12:2797598 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.969G>A (p.Gly323=) |
single nucleotide variant |
Long QT syndrome [RCV002212406] |
Chr12:2493242 [GRCh38] Chr12:2602408 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5680+16G>A |
single nucleotide variant |
Long QT syndrome [RCV002076777] |
Chr12:2685858 [GRCh38] Chr12:2795024 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2277T>C (p.Ala759=) |
single nucleotide variant |
Long QT syndrome [RCV002216167] |
Chr12:2584555 [GRCh38] Chr12:2693721 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3210-15C>T |
single nucleotide variant |
Long QT syndrome [RCV002168775] |
Chr12:2606969 [GRCh38] Chr12:2716135 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-16G>T |
single nucleotide variant |
Long QT syndrome [RCV002078480] |
Chr12:2634281 [GRCh38] Chr12:2743447 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3558+20C>A |
single nucleotide variant |
Long QT syndrome [RCV002114679] |
Chr12:2608732 [GRCh38] Chr12:2717898 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.478-11_478-10del |
deletion |
Long QT syndrome [RCV002091123] |
Chr12:2448964..2448965 [GRCh38] Chr12:2558130..2558131 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-423T>C |
single nucleotide variant |
Long QT syndrome [RCV002113355] |
Chr12:2504419 [GRCh38] Chr12:2613585 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3570G>T (p.Val1190=) |
single nucleotide variant |
Long QT syndrome [RCV002134397] |
Chr12:2610552 [GRCh38] Chr12:2719718 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1569T>C (p.Ser523=) |
single nucleotide variant |
Long QT syndrome [RCV002197315] |
Chr12:2566482 [GRCh38] Chr12:2675648 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3495C>G (p.Val1165=) |
single nucleotide variant |
Long QT syndrome [RCV002096829] |
Chr12:2608649 [GRCh38] Chr12:2717815 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1476G>A (p.Arg492=) |
single nucleotide variant |
Long QT syndrome [RCV002153036] |
Chr12:2550028 [GRCh38] Chr12:2659194 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3894A>G (p.Ile1298Met) |
single nucleotide variant |
not provided [RCV002223455] |
Chr12:2634362 [GRCh38] Chr12:2743528 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2530+19A>C |
single nucleotide variant |
Long QT syndrome [RCV002112570] |
Chr12:2585923 [GRCh38] Chr12:2695089 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3180C>T (p.Asp1060=) |
single nucleotide variant |
Long QT syndrome [RCV002107961] |
Chr12:2606634 [GRCh38] Chr12:2715800 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1732C>T (p.Leu578=) |
single nucleotide variant |
Long QT syndrome [RCV002171057] |
Chr12:2567631 [GRCh38] Chr12:2676797 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2960+15C>T |
single nucleotide variant |
Long QT syndrome [RCV002115346] |
Chr12:2601975 [GRCh38] Chr12:2711141 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4829-14_4829-8del |
deletion |
Long QT syndrome [RCV002078293] |
Chr12:2677079..2677085 [GRCh38] Chr12:2786245..2786251 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1116C>A (p.Val372=) |
single nucleotide variant |
Long QT syndrome [RCV002131376] |
Chr12:2504844 [GRCh38] Chr12:2614010 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1508+16G>A |
single nucleotide variant |
Long QT syndrome [RCV002111655] |
Chr12:2556993 [GRCh38] Chr12:2666159 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5092-19C>T |
single nucleotide variant |
Long QT syndrome [RCV002095714] |
Chr12:2679425 [GRCh38] Chr12:2788591 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4399-16G>T |
single nucleotide variant |
Long QT syndrome [RCV002170679] |
Chr12:2665565 [GRCh38] Chr12:2774731 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3156+20G>C |
single nucleotide variant |
Long QT syndrome [RCV002125345] |
Chr12:2605806 [GRCh38] Chr12:2714972 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+158A>G |
single nucleotide variant |
Long QT syndrome [RCV002135224] |
Chr12:2597447 [GRCh38] Chr12:2706613 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.5151C>G (p.Ala1717=) |
single nucleotide variant |
Long QT syndrome [RCV002194021] |
Chr12:2679503 [GRCh38] Chr12:2788669 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2224+18C>A |
single nucleotide variant |
Long QT syndrome [RCV002172059] |
Chr12:2582960 [GRCh38] Chr12:2692126 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+16T>C |
single nucleotide variant |
Long QT syndrome [RCV002148711] |
Chr12:2584633 [GRCh38] Chr12:2693799 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5092-16T>C |
single nucleotide variant |
Long QT syndrome [RCV002115225] |
Chr12:2679428 [GRCh38] Chr12:2788594 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1218-20C>T |
single nucleotide variant |
Long QT syndrome [RCV002113995] |
Chr12:2512792 [GRCh38] Chr12:2621958 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.42C>T (p.Asn14=) |
single nucleotide variant |
Long QT syndrome [RCV002135265] |
Chr12:2053604 [GRCh38] Chr12:2162770 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_001167623.2(CACNA1C):c.1186G>A (p.Val396Ile) |
single nucleotide variant |
Long QT syndrome [RCV002216330] |
Chr12:2504508 [GRCh38] Chr12:2613674 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4828+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003308064]|Timothy syndrome [RCV002505884]|not provided [RCV002224236] |
Chr12:2674643 [GRCh38] Chr12:2783809 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1390+19C>T |
single nucleotide variant |
Long QT syndrome [RCV002116935] |
Chr12:2513003 [GRCh38] Chr12:2622169 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1669+7G>T |
single nucleotide variant |
Long QT syndrome [RCV002216101] |
Chr12:2566589 [GRCh38] Chr12:2675755 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5680+12G>A |
single nucleotide variant |
Long QT syndrome [RCV002132226] |
Chr12:2685854 [GRCh38] Chr12:2795020 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3138C>T (p.Ile1046=) |
single nucleotide variant |
Long QT syndrome [RCV002086062] |
Chr12:2605768 [GRCh38] Chr12:2714934 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5785-19A>G |
single nucleotide variant |
Long QT syndrome [RCV002133785] |
Chr12:2688428 [GRCh38] Chr12:2797594 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2460+10T>C |
single nucleotide variant |
Long QT syndrome [RCV002193687] |
Chr12:2585506 [GRCh38] Chr12:2694672 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+11C>T |
single nucleotide variant |
Long QT syndrome [RCV002209369] |
Chr12:2597300 [GRCh38] Chr12:2706466 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4743C>G (p.Ala1581=) |
single nucleotide variant |
Long QT syndrome [RCV002076090] |
Chr12:2674557 [GRCh38] Chr12:2783723 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2225-15A>G |
single nucleotide variant |
Long QT syndrome [RCV002112478] |
Chr12:2584488 [GRCh38] Chr12:2693654 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4398+18T>G |
single nucleotide variant |
Long QT syndrome [RCV002091045] |
Chr12:2665008 [GRCh38] Chr12:2774174 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1758C>G (p.Ser586=) |
single nucleotide variant |
Long QT syndrome [RCV002129223] |
Chr12:2567657 [GRCh38] Chr12:2676823 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2229C>A (p.Ile743=) |
single nucleotide variant |
Long QT syndrome [RCV002074708] |
Chr12:2584507 [GRCh38] Chr12:2693673 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4761G>T (p.Ala1587=) |
single nucleotide variant |
Long QT syndrome [RCV002078882] |
Chr12:2674575 [GRCh38] Chr12:2783741 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.309C>T (p.Ala103=) |
single nucleotide variant |
Long QT syndrome [RCV002152802] |
Chr12:2115483 [GRCh38] Chr12:2224649 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3096C>T (p.Ile1032=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325674]|Long QT syndrome [RCV002126222] |
Chr12:2605726 [GRCh38] Chr12:2714892 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6354C>A (p.Arg2118=) |
single nucleotide variant |
Long QT syndrome [RCV002188402] |
Chr12:2691136 [GRCh38] Chr12:2800302 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3093C>T (p.Asn1031=) |
single nucleotide variant |
Long QT syndrome [RCV002165836] |
Chr12:2605723 [GRCh38] Chr12:2714889 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1740G>A (p.Leu580=) |
single nucleotide variant |
Long QT syndrome [RCV002146332] |
Chr12:2567639 [GRCh38] Chr12:2676805 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.117C>G (p.Ala39=) |
single nucleotide variant |
Long QT syndrome [RCV002096088] |
Chr12:2115291 [GRCh38] Chr12:2224457 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1647C>T (p.Pro549=) |
single nucleotide variant |
Long QT syndrome [RCV002151157] |
Chr12:2566560 [GRCh38] Chr12:2675726 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1217+13A>G |
single nucleotide variant |
Long QT syndrome [RCV002115324] |
Chr12:2504958 [GRCh38] Chr12:2614124 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4302G>A (p.Glu1434=) |
single nucleotide variant |
Long QT syndrome [RCV002209941] |
Chr12:2664894 [GRCh38] Chr12:2774060 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3225G>T (p.Thr1075=) |
single nucleotide variant |
Long QT syndrome [RCV002149343] |
Chr12:2606999 [GRCh38] Chr12:2716165 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3237G>A (p.Gly1079=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325626]|Long QT syndrome [RCV002115361] |
Chr12:2607011 [GRCh38] Chr12:2716177 [GRCh37] Chr12:12p13.33 |
benign|likely benign |
NM_000719.7(CACNA1C):c.5573+12T>C |
single nucleotide variant |
Long QT syndrome [RCV002115362] |
Chr12:2682690 [GRCh38] Chr12:2791856 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3717+15G>C |
single nucleotide variant |
Long QT syndrome [RCV002174254] |
Chr12:2610714 [GRCh38] Chr12:2719880 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3894A>T (p.Ile1298=) |
single nucleotide variant |
Long QT syndrome [RCV002079051] |
Chr12:2634362 [GRCh38] Chr12:2743528 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5681-20C>T |
single nucleotide variant |
Long QT syndrome [RCV002106020] |
Chr12:2686146 [GRCh38] Chr12:2795312 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2610G>A (p.Lys870=) |
single nucleotide variant |
Long QT syndrome [RCV002187602] |
Chr12:2593292 [GRCh38] Chr12:2702458 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.618-4C>G |
single nucleotide variant |
Long QT syndrome [RCV002150642] |
Chr12:2457563 [GRCh38] Chr12:2566729 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5178C>T (p.Arg1726=) |
single nucleotide variant |
Long QT syndrome [RCV002134439] |
Chr12:2679530 [GRCh38] Chr12:2788696 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3356+10C>T |
single nucleotide variant |
Long QT syndrome [RCV002166542] |
Chr12:2607140 [GRCh38] Chr12:2716306 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.69A>G (p.Pro23=) |
single nucleotide variant |
Long QT syndrome [RCV002171978] |
Chr12:2115243 [GRCh38] Chr12:2224409 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3828+11G>A |
single nucleotide variant |
Long QT syndrome [RCV002150757] |
Chr12:2612024 [GRCh38] Chr12:2721190 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn) |
single nucleotide variant |
not provided [RCV002224301] |
Chr12:2668966 [GRCh38] Chr12:2778132 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1114-291G>A |
single nucleotide variant |
Long QT syndrome [RCV002172671] |
Chr12:2504551 [GRCh38] Chr12:2613717 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3559-12C>T |
single nucleotide variant |
Long QT syndrome [RCV002132715] |
Chr12:2610529 [GRCh38] Chr12:2719695 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3441C>T (p.Ile1147=) |
single nucleotide variant |
Long QT syndrome [RCV002134839] |
Chr12:2608595 [GRCh38] Chr12:2717761 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1383C>T (p.Pro461=) |
single nucleotide variant |
Long QT syndrome [RCV002193887] |
Chr12:2512977 [GRCh38] Chr12:2622143 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5573+8C>T |
single nucleotide variant |
Long QT syndrome [RCV002080509] |
Chr12:2682686 [GRCh38] Chr12:2791852 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1390+13C>G |
single nucleotide variant |
Long QT syndrome [RCV002185512] |
Chr12:2512997 [GRCh38] Chr12:2622163 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=) |
single nucleotide variant |
Long QT syndrome [RCV002085270]|Long qt syndrome 8 [RCV002471254] |
Chr12:2606613 [GRCh38] Chr12:2715779 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.1482-10del |
deletion |
Long QT syndrome [RCV002212452] |
Chr12:2556937 [GRCh38] Chr12:2666103 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400395]|Long QT syndrome [RCV003089172]|not provided [RCV002224484] |
Chr12:2567667 [GRCh38] Chr12:2676833 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2224+20C>A |
single nucleotide variant |
Long QT syndrome [RCV002089237] |
Chr12:2582962 [GRCh38] Chr12:2692128 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5757C>T (p.Val1919=) |
single nucleotide variant |
Long QT syndrome [RCV002159680] |
Chr12:2686242 [GRCh38] Chr12:2795408 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5352C>T (p.Tyr1784=) |
single nucleotide variant |
Long QT syndrome [RCV002218346] |
Chr12:2679704 [GRCh38] Chr12:2788870 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6369G>A (p.Pro2123=) |
single nucleotide variant |
Long QT syndrome [RCV002139001] |
Chr12:2691151 [GRCh38] Chr12:2800317 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2949C>T (p.Ser983=) |
single nucleotide variant |
Long QT syndrome [RCV002220686] |
Chr12:2601949 [GRCh38] Chr12:2711115 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3049-13C>T |
single nucleotide variant |
Long QT syndrome [RCV002135983] |
Chr12:2605666 [GRCh38] Chr12:2714832 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1275G>A (p.Arg425=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372989]|Long QT syndrome [RCV002121922] |
Chr12:2512869 [GRCh38] Chr12:2622035 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2794-10T>G |
single nucleotide variant |
Long QT syndrome [RCV002098437] |
Chr12:2597220 [GRCh38] Chr12:2706386 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.916+16G>A |
single nucleotide variant |
Long QT syndrome [RCV002158220] |
Chr12:2486278 [GRCh38] Chr12:2595444 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6390C>T (p.Asp2130=) |
single nucleotide variant |
Long QT syndrome [RCV002102319] |
Chr12:2691172 [GRCh38] Chr12:2800338 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3327C>T (p.Phe1109=) |
single nucleotide variant |
Long QT syndrome [RCV002156649] |
Chr12:2607101 [GRCh38] Chr12:2716267 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+14C>T |
single nucleotide variant |
Long QT syndrome [RCV002140096] |
Chr12:2597303 [GRCh38] Chr12:2706469 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2854-7C>T |
single nucleotide variant |
Long QT syndrome [RCV002180146] |
Chr12:2601847 [GRCh38] Chr12:2711013 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2586C>G (p.Leu862=) |
single nucleotide variant |
Long QT syndrome [RCV002155176] |
Chr12:2593268 [GRCh38] Chr12:2702434 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1896-17C>G |
single nucleotide variant |
Long QT syndrome [RCV002120681] |
Chr12:2581573 [GRCh38] Chr12:2690739 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3048+19T>C |
single nucleotide variant |
Long QT syndrome [RCV002120815] |
Chr12:2605187 [GRCh38] Chr12:2714353 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4878G>A (p.Glu1626=) |
single nucleotide variant |
Long QT syndrome [RCV002204866] |
Chr12:2677143 [GRCh38] Chr12:2786309 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+154409T>G |
single nucleotide variant |
Long QT syndrome [RCV002217951] |
Chr12:2274839 [GRCh38] Chr12:2384005 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.4914C>T (p.Gly1638=) |
single nucleotide variant |
Long QT syndrome [RCV002164664] |
Chr12:2677179 [GRCh38] Chr12:2786345 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2058G>A (p.Arg686=) |
single nucleotide variant |
Long QT syndrome [RCV002154048] |
Chr12:2581752 [GRCh38] Chr12:2690918 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1044C>T (p.Asn348=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400380]|Long QT syndrome [RCV002179219] |
Chr12:2493317 [GRCh38] Chr12:2602483 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5763C>T (p.Pro1921=) |
single nucleotide variant |
Long QT syndrome [RCV002182934] |
Chr12:2686248 [GRCh38] Chr12:2795414 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5739C>T (p.Asp1913=) |
single nucleotide variant |
Long QT syndrome [RCV002163286] |
Chr12:2686224 [GRCh38] Chr12:2795390 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4863G>A (p.Thr1621=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337373]|Long QT syndrome [RCV002141297] |
Chr12:2677128 [GRCh38] Chr12:2786294 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2853+8C>T |
single nucleotide variant |
Long QT syndrome [RCV002160085] |
Chr12:2597297 [GRCh38] Chr12:2706463 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3357-9C>T |
single nucleotide variant |
Long QT syndrome [RCV002181405] |
Chr12:2608502 [GRCh38] Chr12:2717668 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4232+18T>C |
single nucleotide variant |
Long QT syndrome [RCV002183255] |
Chr12:2655256 [GRCh38] Chr12:2764422 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3945+10A>T |
single nucleotide variant |
Long QT syndrome [RCV002183313] |
Chr12:2648517 [GRCh38] Chr12:2757683 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2339+19C>G |
single nucleotide variant |
Long QT syndrome [RCV002160461] |
Chr12:2584636 [GRCh38] Chr12:2693802 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4624-6del |
deletion |
Long QT syndrome [RCV002141962] |
Chr12:2668926 [GRCh38] Chr12:2778092 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1107G>C (p.Leu369=) |
single nucleotide variant |
Long QT syndrome [RCV002102802] |
Chr12:2493380 [GRCh38] Chr12:2602546 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.645A>C (p.Ala215=) |
single nucleotide variant |
Long QT syndrome [RCV002217607] |
Chr12:2457594 [GRCh38] Chr12:2566760 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2376G>A (p.Glu792=) |
single nucleotide variant |
Long QT syndrome [RCV002217626] |
Chr12:2585412 [GRCh38] Chr12:2694578 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5532C>T (p.Asp1844=) |
single nucleotide variant |
Long QT syndrome [RCV002084387] |
Chr12:2682637 [GRCh38] Chr12:2791803 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.54C>T (p.Ser18=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346388]|Long QT syndrome [RCV002204737] |
Chr12:2115228 [GRCh38] Chr12:2224394 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.162G>C (p.Ala54=) |
single nucleotide variant |
Long QT syndrome [RCV002164269] |
Chr12:2115336 [GRCh38] Chr12:2224502 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664-12T>C |
single nucleotide variant |
Long QT syndrome [RCV002162674] |
Chr12:2595862 [GRCh38] Chr12:2705028 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1895+20A>G |
single nucleotide variant |
Long QT syndrome [RCV002101239] |
Chr12:2567814 [GRCh38] Chr12:2676980 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4131C>T (p.Ile1377=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331668]|Long QT syndrome [RCV002176722] |
Chr12:2653891 [GRCh38] Chr12:2763057 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.125A>G (p.His42Arg) |
single nucleotide variant |
not provided [RCV002254104] |
Chr12:2115299 [GRCh38] Chr12:2224465 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2337C>A (p.Ala779=) |
single nucleotide variant |
Long QT syndrome [RCV002164585] |
Chr12:2584615 [GRCh38] Chr12:2693781 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3356+15C>A |
single nucleotide variant |
Long QT syndrome [RCV002119047] |
Chr12:2607145 [GRCh38] Chr12:2716311 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2694T>C (p.Asn898=) |
single nucleotide variant |
Long QT syndrome [RCV002155545] |
Chr12:2595904 [GRCh38] Chr12:2705070 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1107G>A (p.Leu369=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161542]|Long QT syndrome [RCV002155611] |
Chr12:2493380 [GRCh38] Chr12:2602546 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-18A>G |
single nucleotide variant |
Long QT syndrome [RCV002140585] |
Chr12:2504824 [GRCh38] Chr12:2613990 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.478-12T>C |
single nucleotide variant |
Long QT syndrome [RCV002103123] |
Chr12:2448964 [GRCh38] Chr12:2558130 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6117+12G>A |
single nucleotide variant |
Long QT syndrome [RCV002141934] |
Chr12:2688791 [GRCh38] Chr12:2797957 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1338C>T (p.Asp446=) |
single nucleotide variant |
Long QT syndrome [RCV002204763] |
Chr12:2512932 [GRCh38] Chr12:2622098 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.777T>C (p.Asn259=) |
single nucleotide variant |
Long QT syndrome [RCV002201467] |
Chr12:2486123 [GRCh38] Chr12:2595289 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.60T>C (p.Tyr20=) |
single nucleotide variant |
Long QT syndrome [RCV002197800] |
Chr12:2115234 [GRCh38] Chr12:2224400 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4727-8C>T |
single nucleotide variant |
Long QT syndrome [RCV002098190] |
Chr12:2674533 [GRCh38] Chr12:2783699 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4140+20G>C |
single nucleotide variant |
Long QT syndrome [RCV002184594] |
Chr12:2653920 [GRCh38] Chr12:2763086 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-421C>A |
single nucleotide variant |
Long QT syndrome [RCV002119973] |
Chr12:2504421 [GRCh38] Chr12:2613587 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5788T>C (p.Leu1930=) |
single nucleotide variant |
Long QT syndrome [RCV002180872] |
Chr12:2688450 [GRCh38] Chr12:2797616 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.27C>T (p.Tyr9=) |
single nucleotide variant |
Long QT syndrome [RCV002142832] |
Chr12:2053589 [GRCh38] Chr12:2162755 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+17C>T |
single nucleotide variant |
Long QT syndrome [RCV002102360] |
Chr12:2120447 [GRCh38] Chr12:2229613 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6117+15G>A |
single nucleotide variant |
Long QT syndrome [RCV002142885] |
Chr12:2688794 [GRCh38] Chr12:2797960 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4726+12C>G |
single nucleotide variant |
Long QT syndrome [RCV002179709] |
Chr12:2669047 [GRCh38] Chr12:2778213 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2493T>C (p.Asn831=) |
single nucleotide variant |
Long QT syndrome [RCV002103960] |
Chr12:2585867 [GRCh38] Chr12:2695033 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1670-15T>C |
single nucleotide variant |
Long QT syndrome [RCV002219290] |
Chr12:2567554 [GRCh38] Chr12:2676720 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3399C>T (p.Gly1133=) |
single nucleotide variant |
Long QT syndrome [RCV002159886] |
Chr12:2608553 [GRCh38] Chr12:2717719 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2224+9dup |
duplication |
Long QT syndrome [RCV002141194] |
Chr12:2582948..2582949 [GRCh38] Chr12:2692114..2692115 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2325A>G (p.Arg775=) |
single nucleotide variant |
Long QT syndrome [RCV002200635] |
Chr12:2584603 [GRCh38] Chr12:2693769 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1242G>A (p.Lys414=) |
single nucleotide variant |
Long QT syndrome [RCV002162105] |
Chr12:2512836 [GRCh38] Chr12:2622002 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4032G>A (p.Glu1344=) |
single nucleotide variant |
Long QT syndrome [RCV002201670] |
Chr12:2651726 [GRCh38] Chr12:2760892 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443174]|Long QT syndrome [RCV002103804]|not provided [RCV003326611] |
Chr12:2585433 [GRCh38] Chr12:2694599 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6118-11C>T |
single nucleotide variant |
Long QT syndrome [RCV002119723] |
Chr12:2690889 [GRCh38] Chr12:2800055 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2713C>T (p.Leu905=) |
single nucleotide variant |
Long QT syndrome [RCV002200085] |
Chr12:2595923 [GRCh38] Chr12:2705089 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.144T>C (p.Ala48=) |
single nucleotide variant |
Long QT syndrome [RCV002119877] |
Chr12:2115318 [GRCh38] Chr12:2224484 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4188C>T (p.Asn1396=) |
single nucleotide variant |
Long QT syndrome [RCV002220922] |
Chr12:2655194 [GRCh38] Chr12:2764360 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3210-5C>A |
single nucleotide variant |
Long QT syndrome [RCV002143246] |
Chr12:2606979 [GRCh38] Chr12:2716145 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3706C>T (p.Leu1236=) |
single nucleotide variant |
Long QT syndrome [RCV002216966] |
Chr12:2610688 [GRCh38] Chr12:2719854 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6405C>T (p.Val2135=) |
single nucleotide variant |
Long QT syndrome [RCV002139650] |
Chr12:2691187 [GRCh38] Chr12:2800353 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1611C>T (p.Asn537=) |
single nucleotide variant |
Long QT syndrome [RCV002123174] |
Chr12:2566524 [GRCh38] Chr12:2675690 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4075-15T>C |
single nucleotide variant |
Long QT syndrome [RCV002123297] |
Chr12:2653820 [GRCh38] Chr12:2762986 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.478-9G>A |
single nucleotide variant |
Long QT syndrome [RCV002203939] |
Chr12:2448967 [GRCh38] Chr12:2558133 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3829-18C>T |
single nucleotide variant |
Long QT syndrome [RCV002123410] |
Chr12:2634279 [GRCh38] Chr12:2743445 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1482-8T>A |
single nucleotide variant |
Long QT syndrome [RCV002175866] |
Chr12:2556943 [GRCh38] Chr12:2666109 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.917-16C>T |
single nucleotide variant |
Long QT syndrome [RCV002178136] |
Chr12:2493174 [GRCh38] Chr12:2602340 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4232+11G>A |
single nucleotide variant |
Long QT syndrome [RCV002179856] |
Chr12:2655249 [GRCh38] Chr12:2764415 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5785-8G>A |
single nucleotide variant |
Long QT syndrome [RCV002118641] |
Chr12:2688439 [GRCh38] Chr12:2797605 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3049-18C>T |
single nucleotide variant |
Long QT syndrome [RCV002184001] |
Chr12:2605661 [GRCh38] Chr12:2714827 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3357-16C>G |
single nucleotide variant |
Long QT syndrome [RCV002138197] |
Chr12:2608495 [GRCh38] Chr12:2717661 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.366A>G (p.Glu122=) |
single nucleotide variant |
Long QT syndrome [RCV002155330] |
Chr12:2115540 [GRCh38] Chr12:2224706 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2403G>A (p.Glu801=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443267]|Long QT syndrome [RCV002184213] |
Chr12:2585439 [GRCh38] Chr12:2694605 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2670C>T (p.Arg890=) |
single nucleotide variant |
Long QT syndrome [RCV002184382] |
Chr12:2595880 [GRCh38] Chr12:2705046 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.618-7C>A |
single nucleotide variant |
Long QT syndrome [RCV002218119] |
Chr12:2457560 [GRCh38] Chr12:2566726 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4957-20A>G |
single nucleotide variant |
Long QT syndrome [RCV002082753] |
Chr12:2677713 [GRCh38] Chr12:2786879 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5955C>T (p.Ser1985=) |
single nucleotide variant |
Long QT syndrome [RCV002219911] |
Chr12:2688617 [GRCh38] Chr12:2797783 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2224+22del |
deletion |
Long QT syndrome [RCV002180468] |
Chr12:2582959 [GRCh38] Chr12:2692125 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3357-20G>A |
single nucleotide variant |
Long QT syndrome [RCV002182613] |
Chr12:2608491 [GRCh38] Chr12:2717657 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5862C>T (p.Thr1954=) |
single nucleotide variant |
Long QT syndrome [RCV002101799] |
Chr12:2688524 [GRCh38] Chr12:2797690 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3929A>C (p.Gln1310Pro) |
single nucleotide variant |
not provided [RCV003109869] |
Chr12:2648491 [GRCh38] Chr12:2757657 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5444+613C>G |
single nucleotide variant |
not provided [RCV003110104] |
Chr12:2680409 [GRCh38] Chr12:2789575 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NC_000012.11:g.(?_862732)_(2800365_?)dup |
duplication |
not provided [RCV003113825] |
Chr12:862732..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.256T>C (p.Tyr86His) |
single nucleotide variant |
Long QT syndrome [RCV003113059] |
Chr12:2115430 [GRCh38] Chr12:2224596 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3156+5A>G |
single nucleotide variant |
Long QT syndrome [RCV003118182] |
Chr12:2605791 [GRCh38] Chr12:2714957 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn) |
single nucleotide variant |
Long QT syndrome [RCV003117158]|not provided [RCV003325621] |
Chr12:2608530 [GRCh38] Chr12:2717696 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5295C>T (p.Ala1765=) |
single nucleotide variant |
Long QT syndrome [RCV003112163] |
Chr12:2679647 [GRCh38] Chr12:2788813 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-421C>T |
single nucleotide variant |
Long QT syndrome [RCV003112922] |
Chr12:2504421 [GRCh38] Chr12:2613587 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg) |
single nucleotide variant |
Long QT syndrome [RCV003121216]|not provided [RCV003143582] |
Chr12:2691107 [GRCh38] Chr12:2800273 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-21_3946-19del |
microsatellite |
not provided [RCV003120163] |
Chr12:2651616..2651618 [GRCh38] Chr12:2760782..2760784 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6319C>T (p.Arg2107Ter) |
single nucleotide variant |
Long QT syndrome [RCV003121425] |
Chr12:2691101 [GRCh38] Chr12:2800267 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4479C>T (p.His1493=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162149]|Long QT syndrome [RCV003121435] |
Chr12:2665661 [GRCh38] Chr12:2774827 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6369G>T (p.Pro2123=) |
single nucleotide variant |
Long QT syndrome [RCV003121471] |
Chr12:2691151 [GRCh38] Chr12:2800317 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3946-13C>G |
single nucleotide variant |
Long QT syndrome [RCV003120069] |
Chr12:2651627 [GRCh38] Chr12:2760793 [GRCh37] Chr12:12p13.33 |
likely benign |
NC_000012.11:g.(?_2795312)_(2800365_?)dup |
duplication |
Long QT syndrome [RCV003105310] |
Chr12:2795312..2800365 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro) |
single nucleotide variant |
Timothy syndrome [RCV002273336] |
Chr12:2677211 [GRCh38] Chr12:2786377 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1865T>G (p.Val622Gly) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003233024] |
Chr12:2567764 [GRCh38] Chr12:2676930 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003233025] |
Chr12:2486161 [GRCh38] Chr12:2595327 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278251] |
Chr12:2567593 [GRCh38] Chr12:2676759 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5808C>T (p.Ser1936=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278252] |
Chr12:2688470 [GRCh38] Chr12:2797636 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4022G>T (p.Ser1341Ile) |
single nucleotide variant |
not provided [RCV002286140] |
Chr12:2651716 [GRCh38] Chr12:2760882 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2404G>A (p.Glu802Lys) |
single nucleotide variant |
not provided [RCV002265222] |
Chr12:2585440 [GRCh38] Chr12:2694606 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp) |
single nucleotide variant |
not specified [RCV002271762] |
Chr12:2688532 [GRCh38] Chr12:2797698 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4141-605G>A |
single nucleotide variant |
Timothy syndrome [RCV002275667] |
Chr12:2654542 [GRCh38] Chr12:2763708 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1390+4A>G |
single nucleotide variant |
Timothy syndrome [RCV002288433] |
Chr12:2512988 [GRCh38] Chr12:2622154 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter) |
single nucleotide variant |
not provided [RCV002265436] |
Chr12:2610588 [GRCh38] Chr12:2719754 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro) |
single nucleotide variant |
CACNA1C-Related Disorder [RCV003159567]|Neurodevelopmental delay [RCV002274324] |
Chr12:2665599 [GRCh38] Chr12:2774765 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala) |
single nucleotide variant |
Long QT syndrome [RCV003120867]|not provided [RCV002269708] |
Chr12:2567571 [GRCh38] Chr12:2676737 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs) |
duplication |
not provided [RCV002293912] |
Chr12:2688554..2688555 [GRCh38] Chr12:2797720..2797721 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452519] |
Chr12:2610641 [GRCh38] Chr12:2719807 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3861C>T (p.Asp1287=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002366237] |
Chr12:2634329 [GRCh38] Chr12:2743495 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile) |
single nucleotide variant |
not provided [RCV002283253] |
Chr12:2053565 [GRCh38] Chr12:2162731 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs) |
duplication |
Neurodevelopmental disorder [RCV002272893] |
Chr12:2504886..2504887 [GRCh38] Chr12:2614052..2614053 [GRCh37] Chr12:12p13.33 |
pathogenic |
CACNA1C, ILE1166THR |
single nucleotide variant |
Timothy syndrome [RCV002286520] |
|
pathogenic |
CACNA1C, ARG518CYS |
single nucleotide variant |
Timothy syndrome [RCV002286521] |
|
pathogenic |
CACNA1C, ARG518HIS |
variation |
Timothy syndrome [RCV002286522] |
|
pathogenic |
CACNA1C, GLU1115LYS |
variation |
Timothy syndrome [RCV002286524] |
|
pathogenic |
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002366838] |
Chr12:2457613 [GRCh38] Chr12:2566779 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5609C>A (p.Thr1870Lys) |
single nucleotide variant |
Long qt syndrome 8 [RCV002273083] |
Chr12:2685771 [GRCh38] Chr12:2794937 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.583T>A (p.Trp195Arg) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV002272001] |
Chr12:2449081 [GRCh38] Chr12:2558247 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp) |
single nucleotide variant |
Long QT syndrome [RCV003101534]|not provided [RCV002269481] |
Chr12:2679468 [GRCh38] Chr12:2788634 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.617+17_617+19delinsATC |
indel |
not specified [RCV003230930] |
Chr12:2449132..2449134 [GRCh38] Chr12:2558298..2558300 [GRCh37] Chr12:12p13.33 |
benign |
NM_000719.7(CACNA1C):c.3718-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002349053] |
Chr12:2611898 [GRCh38] Chr12:2721064 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6234C>A (p.Ala2078=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002366589] |
Chr12:2691016 [GRCh38] Chr12:2800182 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe) |
single nucleotide variant |
Timothy syndrome [RCV002286523] |
Chr12:2581622 [GRCh38] Chr12:2690788 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.6252G>C (p.Gly2084=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002366684] |
Chr12:2691034 [GRCh38] Chr12:2800200 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349553] |
Chr12:2679783 [GRCh38] Chr12:2788949 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3589C>A (p.Arg1197=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455122]|Long QT syndrome [RCV003099601] |
Chr12:2610571 [GRCh38] Chr12:2719737 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1962G>A (p.Leu654=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421778]|Long QT syndrome [RCV003100966] |
Chr12:2581656 [GRCh38] Chr12:2690822 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala) |
single nucleotide variant |
not provided [RCV002267317] |
Chr12:2605736 [GRCh38] Chr12:2714902 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419637] |
Chr12:2581717 [GRCh38] Chr12:2690883 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368992]|Long QT syndrome [RCV003098213] |
Chr12:2691135 [GRCh38] Chr12:2800301 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5436C>T (p.Ser1812=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349571]|Long QT syndrome [RCV003096739] |
Chr12:2679788 [GRCh38] Chr12:2788954 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002284055] |
Chr12:2655228 [GRCh38] Chr12:2764394 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368997] |
Chr12:2691138 [GRCh38] Chr12:2800304 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3705C>T (p.Cys1235=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348962] |
Chr12:2610687 [GRCh38] Chr12:2719853 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002284054] |
Chr12:2581663 [GRCh38] Chr12:2690829 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.5481T>C (p.Gly1827=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349862] |
Chr12:2682586 [GRCh38] Chr12:2791752 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3750C>T (p.Ala1250=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349302] |
Chr12:2611935 [GRCh38] Chr12:2721101 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6387G>A (p.Gln2129=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002369134] |
Chr12:2691169 [GRCh38] Chr12:2800335 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349537] |
Chr12:2449040 [GRCh38] Chr12:2558206 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002351748] |
Chr12:2682623 [GRCh38] Chr12:2791789 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5712G>A (p.Leu1904=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347651] |
Chr12:2686197 [GRCh38] Chr12:2795363 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg) |
single nucleotide variant |
Timothy syndrome [RCV002472076] |
Chr12:2682633 [GRCh38] Chr12:2791799 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342427] |
Chr12:2666768 [GRCh38] Chr12:2775934 [GRCh37] Chr12:12p13.33 |
uncertain significance |
Single allele |
duplication |
Brugada syndrome 3 [RCV002468504] |
Chr12:2685653..2741045 [GRCh38] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 |
copy number gain |
not provided [RCV002472514] |
Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342968] |
Chr12:2677772 [GRCh38] Chr12:2786938 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.798C>A (p.Val266=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412396] |
Chr12:2486144 [GRCh38] Chr12:2595310 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1237G>A (p.Glu413Lys) |
single nucleotide variant |
Long qt syndrome 8 [RCV002471493] |
Chr12:2512831 [GRCh38] Chr12:2621997 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2019716-2674054)x3 |
copy number gain |
not provided [RCV002473531] |
Chr12:2019716..2674054 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002459518]|Long QT syndrome [RCV003098843] |
Chr12:2585422 [GRCh38] Chr12:2694588 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1233G>A (p.Glu411=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378133] |
Chr12:2512827 [GRCh38] Chr12:2621993 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443296]|not provided [RCV002301052] |
Chr12:2486193 [GRCh38] Chr12:2595359 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs) |
deletion |
not provided [RCV003237235] |
Chr12:2120352..2120353 [GRCh38] Chr12:2229518..2229519 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443372] |
Chr12:2606660 [GRCh38] Chr12:2715826 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002389079] |
Chr12:2549946 [GRCh38] Chr12:2659112 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.324C>T (p.Thr108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002324875] |
Chr12:2115498 [GRCh38] Chr12:2224664 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.420C>A (p.Ala140=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327926] |
Chr12:2120373 [GRCh38] Chr12:2229539 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4218G>T (p.Val1406=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328004] |
Chr12:2655224 [GRCh38] Chr12:2764390 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002353999] |
Chr12:2691102 [GRCh38] Chr12:2800268 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3687C>T (p.Ile1229=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457443] |
Chr12:2610669 [GRCh38] Chr12:2719835 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322754]|Long QT syndrome [RCV003099271] |
Chr12:2606635 [GRCh38] Chr12:2715801 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401005] |
Chr12:2566531 [GRCh38] Chr12:2675697 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.728G>T (p.Arg243Leu) |
single nucleotide variant |
Long QT syndrome [RCV002305264] |
Chr12:2457677 [GRCh38] Chr12:2566843 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359672] |
Chr12:2686258 [GRCh38] Chr12:2795424 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1560A>G (p.Ala520=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405401] |
Chr12:2566473 [GRCh38] Chr12:2675639 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs) |
deletion |
Cardiovascular phenotype [RCV002347644] |
Chr12:2686196..2686197 [GRCh38] Chr12:2795362..2795363 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3274G>A (p.Glu1092Lys) |
single nucleotide variant |
Long QT syndrome [RCV002295207] |
Chr12:2607048 [GRCh38] Chr12:2716214 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs) |
duplication |
Cardiovascular phenotype [RCV002445627] |
Chr12:2607024..2607025 [GRCh38] Chr12:2716190..2716191 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4290G>A (p.Lys1430=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330211] |
Chr12:2664882 [GRCh38] Chr12:2774048 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.758-4G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002394128]|Long QT syndrome [RCV003103418] |
Chr12:2486100 [GRCh38] Chr12:2595266 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.108G>T (p.Ala36=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446157] |
Chr12:2115282 [GRCh38] Chr12:2224448 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2970A>G (p.Ala990=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442099] |
Chr12:2605090 [GRCh38] Chr12:2714256 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1296G>A (p.Glu432=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380663] |
Chr12:2512890 [GRCh38] Chr12:2622056 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2225-5_2225-2del |
deletion |
Cardiovascular phenotype [RCV002428126] |
Chr12:2584495..2584498 [GRCh38] Chr12:2693661..2693664 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3165G>T (p.Leu1055=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322561] |
Chr12:2606619 [GRCh38] Chr12:2715785 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358144]|Long QT syndrome [RCV003103256] |
Chr12:2688691 [GRCh38] Chr12:2797857 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4104G>A (p.Val1368=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323366] |
Chr12:2653864 [GRCh38] Chr12:2763030 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1236G>A (p.Arg412=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365117] |
Chr12:2512830 [GRCh38] Chr12:2621996 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3766A>T (p.Met1256Leu) |
single nucleotide variant |
Long QT syndrome [RCV002297909] |
Chr12:2611951 [GRCh38] Chr12:2721117 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1740G>T (p.Leu580=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401403] |
Chr12:2567639 [GRCh38] Chr12:2676805 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.837C>T (p.Ile279=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434805] |
Chr12:2486183 [GRCh38] Chr12:2595349 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371316] |
Chr12:2493195 [GRCh38] Chr12:2602361 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1614G>T (p.Thr538=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400954]|not provided [RCV003395477] |
Chr12:2566527 [GRCh38] Chr12:2675693 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4731C>T (p.Asn1577=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335472] |
Chr12:2674545 [GRCh38] Chr12:2783711 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3105C>T (p.Val1035=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326022] |
Chr12:2605735 [GRCh38] Chr12:2714901 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.336C>T (p.Pro112=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451721] |
Chr12:2115510 [GRCh38] Chr12:2224676 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3830A>G (p.His1277Arg) |
single nucleotide variant |
not provided [RCV002300944] |
Chr12:2634298 [GRCh38] Chr12:2743464 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432946] |
Chr12:2585886 [GRCh38] Chr12:2695052 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2805T>C (p.Tyr935=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002441640] |
Chr12:2597241 [GRCh38] Chr12:2706407 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3073G>A (p.Ala1025Thr) |
single nucleotide variant |
not provided [RCV002306219] |
Chr12:2605703 [GRCh38] Chr12:2714869 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1890C>T (p.Ile630=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408018] |
Chr12:2567789 [GRCh38] Chr12:2676955 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.204T>G (p.Ala68=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421801] |
Chr12:2115378 [GRCh38] Chr12:2224544 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3174T>C (p.Cys1058=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322681] |
Chr12:2606628 [GRCh38] Chr12:2715794 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4458G>C (p.Trp1486Cys) |
single nucleotide variant |
Long QT syndrome [RCV002295690] |
Chr12:2665640 [GRCh38] Chr12:2774806 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380403]|not provided [RCV003317598] |
Chr12:2457686 [GRCh38] Chr12:2566852 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.1895+3A>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002408084] |
Chr12:2567797 [GRCh38] Chr12:2676963 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1746C>T (p.Ala582=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401496] |
Chr12:2567645 [GRCh38] Chr12:2676811 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338352] |
Chr12:2679520 [GRCh38] Chr12:2788686 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3888T>C (p.Val1296=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357376] |
Chr12:2634356 [GRCh38] Chr12:2743522 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430745] |
Chr12:2585838 [GRCh38] Chr12:2695004 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1374G>A (p.Glu458=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383771]|Long QT syndrome [RCV003095054] |
Chr12:2512968 [GRCh38] Chr12:2622134 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del) |
microsatellite |
Cardiovascular phenotype [RCV002383780]|Long QT syndrome [RCV003095055] |
Chr12:2512966..2512968 [GRCh38] Chr12:2622132..2622134 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5468C>G (p.Ala1823Gly) |
single nucleotide variant |
Long QT syndrome [RCV002297919] |
Chr12:2682573 [GRCh38] Chr12:2791739 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359796] |
Chr12:2688460 [GRCh38] Chr12:2797626 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1118A>G (p.Asn373Ser) |
single nucleotide variant |
not provided [RCV002300718] |
Chr12:2504846 [GRCh38] Chr12:2614012 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del) |
deletion |
Cardiovascular phenotype [RCV002364796] |
Chr12:2053569..2053571 [GRCh38] Chr12:2162735..2162737 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.190C>T (p.Leu64=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408433] |
Chr12:2115364 [GRCh38] Chr12:2224530 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+3A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002439323] |
Chr12:2493389 [GRCh38] Chr12:2602555 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002353163] |
Chr12:2688482 [GRCh38] Chr12:2797648 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355555]|Long QT syndrome [RCV003108019] |
Chr12:2634330 [GRCh38] Chr12:2743496 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357617] |
Chr12:2651644 [GRCh38] Chr12:2760810 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6081G>A (p.Arg2027=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360003]|Long QT syndrome [RCV003098126] |
Chr12:2688743 [GRCh38] Chr12:2797909 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs) |
duplication |
Cardiovascular phenotype [RCV002328371] |
Chr12:2665632..2665633 [GRCh38] Chr12:2774798..2774799 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364563]|Long QT syndrome [RCV003098302] |
Chr12:2115239 [GRCh38] Chr12:2224405 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5256C>T (p.Thr1752=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340968] |
Chr12:2679608 [GRCh38] Chr12:2788774 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5853T>A (p.Pro1951=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002353354] |
Chr12:2688515 [GRCh38] Chr12:2797681 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002353720] |
Chr12:2690954 [GRCh38] Chr12:2800120 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.819G>A (p.Leu273=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427883] |
Chr12:2486165 [GRCh38] Chr12:2595331 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6025C>A (p.Arg2009=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358132]|Long QT syndrome [RCV003098108] |
Chr12:2688687 [GRCh38] Chr12:2797853 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.352A>G (p.Ile118Val) |
single nucleotide variant |
Long QT syndrome [RCV002295223] |
Chr12:2115526 [GRCh38] Chr12:2224692 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407872] |
Chr12:2053579 [GRCh38] Chr12:2162745 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407880] |
Chr12:2053579 [GRCh38] Chr12:2162745 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354011]|Long QT syndrome [RCV003103289] |
Chr12:2691110 [GRCh38] Chr12:2800276 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338407] |
Chr12:2679526 [GRCh38] Chr12:2788692 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342304] |
Chr12:2666756 [GRCh38] Chr12:2775922 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447884] |
Chr12:2486202 [GRCh38] Chr12:2595368 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5187C>T (p.His1729=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338477] |
Chr12:2679539 [GRCh38] Chr12:2788705 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3801C>T (p.Ile1267=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355185] |
Chr12:2611986 [GRCh38] Chr12:2721152 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344229] |
Chr12:2679483 [GRCh38] Chr12:2788649 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412344]|Long QT syndrome [RCV003103447] |
Chr12:2512846 [GRCh38] Chr12:2622012 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344277] |
Chr12:2679565 [GRCh38] Chr12:2788731 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448325] |
Chr12:2585381 [GRCh38] Chr12:2694547 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338631] |
Chr12:2679552 [GRCh38] Chr12:2788718 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450220]|Long QT syndrome [RCV003098849] |
Chr12:2585435 [GRCh38] Chr12:2694601 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1372G>A (p.Glu458Lys) |
single nucleotide variant |
not provided [RCV002308953] |
Chr12:2512966 [GRCh38] Chr12:2622132 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4629G>A (p.Leu1543=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342544] |
Chr12:2668938 [GRCh38] Chr12:2778104 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5914C>T (p.Leu1972=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355768]|Long QT syndrome [RCV003103246] |
Chr12:2688576 [GRCh38] Chr12:2797742 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2024G>C (p.Gly675Ala) |
single nucleotide variant |
not provided [RCV002308862] |
Chr12:2581718 [GRCh38] Chr12:2690884 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5232C>T (p.Ser1744=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340864] |
Chr12:2679584 [GRCh38] Chr12:2788750 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340502] |
Chr12:2677150 [GRCh38] Chr12:2786316 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337611] |
Chr12:2608698 [GRCh38] Chr12:2717864 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del) |
microsatellite |
Cardiovascular phenotype [RCV002330355] |
Chr12:2666708..2666710 [GRCh38] Chr12:2775874..2775876 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.49+3A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002340644] |
Chr12:2053614 [GRCh38] Chr12:2162780 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.49+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002340645] |
Chr12:2053616 [GRCh38] Chr12:2162782 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1845C>T (p.Gly615=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412917] |
Chr12:2567744 [GRCh38] Chr12:2676910 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3540T>C (p.Cys1180=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337601] |
Chr12:2608694 [GRCh38] Chr12:2717860 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446009] |
Chr12:2584554 [GRCh38] Chr12:2693720 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4629G>T (p.Leu1543=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330386] |
Chr12:2668938 [GRCh38] Chr12:2778104 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360083] |
Chr12:2688759 [GRCh38] Chr12:2797925 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1929C>A (p.Ser643=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410846] |
Chr12:2581623 [GRCh38] Chr12:2690789 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5691C>T (p.Ala1897=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347485] |
Chr12:2686176 [GRCh38] Chr12:2795342 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.483A>G (p.Arg161=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338113]|Long QT syndrome [RCV003102641] |
Chr12:2448981 [GRCh38] Chr12:2558147 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4476C>T (p.His1492=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328507] |
Chr12:2665658 [GRCh38] Chr12:2774824 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328512] |
Chr12:2665659 [GRCh38] Chr12:2774825 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330648]|not provided [RCV003327562] |
Chr12:2674574 [GRCh38] Chr12:2783740 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4686G>A (p.Leu1562=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335226]|Long QT syndrome [RCV003096418] |
Chr12:2668995 [GRCh38] Chr12:2778161 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1540A>C (p.Arg514=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403160] |
Chr12:2566453 [GRCh38] Chr12:2675619 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2461-4C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002455484] |
Chr12:2585831 [GRCh38] Chr12:2694997 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+4C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002439327] |
Chr12:2493390 [GRCh38] Chr12:2602556 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426358] |
Chr12:2593297 [GRCh38] Chr12:2702463 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321220] |
Chr12:2651737 [GRCh38] Chr12:2760903 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338508]|Long QT syndrome [RCV003102702] |
Chr12:2679543 [GRCh38] Chr12:2788709 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321033] |
Chr12:2608512 [GRCh38] Chr12:2717678 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1050C>T (p.Ala350=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403514] |
Chr12:2493323 [GRCh38] Chr12:2602489 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1669+17G>T |
single nucleotide variant |
Long QT syndrome [RCV002994545] |
Chr12:2566599 [GRCh38] Chr12:2675765 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2305_2322del (p.Glu769_Glu774del) |
deletion |
Long QT syndrome [RCV002863444] |
Chr12:2584577..2584594 [GRCh38] Chr12:2693743..2693760 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5657G>A (p.Gly1886Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002968194] |
Chr12:2685819 [GRCh38] Chr12:2794985 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.477+115699G>A |
single nucleotide variant |
Post-traumatic stress disorder [RCV002481080] |
Chr12:2236129 [GRCh38] Chr12:2345295 [GRCh37] Chr12:12p13.33 |
uncertain risk allele |
NM_000719.7(CACNA1C):c.3990G>A (p.Leu1330=) |
single nucleotide variant |
Long QT syndrome [RCV002862588] |
Chr12:2651684 [GRCh38] Chr12:2760850 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu) |
duplication |
Timothy syndrome [RCV002510735] |
Chr12:2691103..2691104 [GRCh38] Chr12:2800269..2800270 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs) |
deletion |
Inborn genetic diseases [RCV002776967] |
Chr12:2679754 [GRCh38] Chr12:2788920 [GRCh37] Chr12:12p13.33 |
pathogenic|uncertain significance |
NM_000719.7(CACNA1C):c.182A>G (p.Gln61Arg) |
single nucleotide variant |
Long QT syndrome [RCV002995304] |
Chr12:2115356 [GRCh38] Chr12:2224522 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1391-3C>G |
single nucleotide variant |
Long QT syndrome [RCV003014641] |
Chr12:2549940 [GRCh38] Chr12:2659106 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4755G>A (p.Leu1585=) |
single nucleotide variant |
Long QT syndrome [RCV002861756] |
Chr12:2674569 [GRCh38] Chr12:2783735 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:817514-2205439)x1 |
copy number loss |
not provided [RCV002475589] |
Chr12:817514..2205439 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.1615C>T (p.Leu539Phe) |
single nucleotide variant |
Long QT syndrome [RCV002815337] |
Chr12:2566528 [GRCh38] Chr12:2675694 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2586C>T (p.Leu862=) |
single nucleotide variant |
Long QT syndrome [RCV002816238] |
Chr12:2593268 [GRCh38] Chr12:2702434 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3669C>T (p.Tyr1223=) |
single nucleotide variant |
Long QT syndrome [RCV003074217] |
Chr12:2610651 [GRCh38] Chr12:2719817 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2733G>C (p.Leu911=) |
single nucleotide variant |
Long QT syndrome [RCV002908764] |
Chr12:2595943 [GRCh38] Chr12:2705109 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.624T>C (p.Phe208=) |
single nucleotide variant |
Long QT syndrome [RCV002636233] |
Chr12:2457573 [GRCh38] Chr12:2566739 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3819C>G (p.Phe1273Leu) |
single nucleotide variant |
Long QT syndrome [RCV002795024] |
Chr12:2612004 [GRCh38] Chr12:2721170 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4398+17C>T |
single nucleotide variant |
Long QT syndrome [RCV002617820] |
Chr12:2665007 [GRCh38] Chr12:2774173 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.732C>A (p.Pro244=) |
single nucleotide variant |
Long QT syndrome [RCV002866134] |
Chr12:2457681 [GRCh38] Chr12:2566847 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3717+7C>A |
single nucleotide variant |
Long QT syndrome [RCV002863405] |
Chr12:2610706 [GRCh38] Chr12:2719872 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2794-15C>A |
single nucleotide variant |
Long QT syndrome [RCV003076951] |
Chr12:2597215 [GRCh38] Chr12:2706381 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4317C>A (p.Asn1439Lys) |
single nucleotide variant |
Long QT syndrome [RCV002771191] |
Chr12:2664909 [GRCh38] Chr12:2774075 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln) |
single nucleotide variant |
Long QT syndrome [RCV002571555]|not provided [RCV002508395] |
Chr12:2679470 [GRCh38] Chr12:2788636 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3828+19C>A |
single nucleotide variant |
Long QT syndrome [RCV002780028] |
Chr12:2612032 [GRCh38] Chr12:2721198 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.885C>T (p.His295=) |
single nucleotide variant |
Long QT syndrome [RCV002815804] |
Chr12:2486231 [GRCh38] Chr12:2595397 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3117G>A (p.Leu1039=) |
single nucleotide variant |
Long QT syndrome [RCV003033398] |
Chr12:2605747 [GRCh38] Chr12:2714913 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3932G>A (p.Cys1311Tyr) |
single nucleotide variant |
Long QT syndrome [RCV003033911] |
Chr12:2648494 [GRCh38] Chr12:2757660 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2961-3C>T |
single nucleotide variant |
Long QT syndrome [RCV003013534] |
Chr12:2605078 [GRCh38] Chr12:2714244 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5979C>T (p.Gly1993=) |
single nucleotide variant |
Long QT syndrome [RCV003015745] |
Chr12:2688641 [GRCh38] Chr12:2797807 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3357-19G>A |
single nucleotide variant |
Long QT syndrome [RCV002862890] |
Chr12:2608492 [GRCh38] Chr12:2717658 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5573+6C>T |
single nucleotide variant |
Long QT syndrome [RCV002681833] |
Chr12:2682684 [GRCh38] Chr12:2791850 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.575G>A (p.Arg192His) |
single nucleotide variant |
Long QT syndrome [RCV003074661] |
Chr12:2449073 [GRCh38] Chr12:2558239 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.246G>A (p.Lys82=) |
single nucleotide variant |
Long QT syndrome [RCV003075384] |
Chr12:2115420 [GRCh38] Chr12:2224586 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5789T>C (p.Leu1930Ser) |
single nucleotide variant |
Long QT syndrome [RCV002730151] |
Chr12:2688451 [GRCh38] Chr12:2797617 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6012C>T (p.Gly2004=) |
single nucleotide variant |
Long QT syndrome [RCV003011649] |
Chr12:2688674 [GRCh38] Chr12:2797840 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4984G>C (p.Gly1662Arg) |
single nucleotide variant |
Long QT syndrome [RCV002907804] |
Chr12:2677760 [GRCh38] Chr12:2786926 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6345C>T (p.Gly2115=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003367966]|Long QT syndrome [RCV003076616] |
Chr12:2691127 [GRCh38] Chr12:2800293 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5676A>G (p.Ser1892=) |
single nucleotide variant |
Long QT syndrome [RCV002904855] |
Chr12:2685838 [GRCh38] Chr12:2795004 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5949C>T (p.Leu1983=) |
single nucleotide variant |
Long QT syndrome [RCV002750770] |
Chr12:2688611 [GRCh38] Chr12:2797777 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4028G>A (p.Gly1343Glu) |
single nucleotide variant |
Long QT syndrome [RCV002842506] |
Chr12:2651722 [GRCh38] Chr12:2760888 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.975del (p.Gln325fs) |
deletion |
Long QT syndrome [RCV002863763] |
Chr12:2493248 [GRCh38] Chr12:2602414 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5574-18A>G |
single nucleotide variant |
Long QT syndrome [RCV002907909] |
Chr12:2685718 [GRCh38] Chr12:2794884 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.444A>G (p.Pro148=) |
single nucleotide variant |
Long QT syndrome [RCV003076003] |
Chr12:2120397 [GRCh38] Chr12:2229563 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4210C>G (p.Gln1404Glu) |
single nucleotide variant |
Long QT syndrome [RCV002726612] |
Chr12:2655216 [GRCh38] Chr12:2764382 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3049-7A>C |
single nucleotide variant |
Long QT syndrome [RCV002842412] |
Chr12:2605672 [GRCh38] Chr12:2714838 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4623+4A>G |
single nucleotide variant |
Long QT syndrome [RCV003034363] |
Chr12:2666786 [GRCh38] Chr12:2775952 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.477+15C>G |
single nucleotide variant |
Long QT syndrome [RCV002880601] |
Chr12:2120445 [GRCh38] Chr12:2229611 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5091+12C>T |
single nucleotide variant |
Long QT syndrome [RCV002571768] |
Chr12:2677879 [GRCh38] Chr12:2787045 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2854-18C>A |
single nucleotide variant |
Long QT syndrome [RCV002622562] |
Chr12:2601836 [GRCh38] Chr12:2711002 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6260dup (p.Gln2088fs) |
duplication |
Long QT syndrome [RCV002847936] |
Chr12:2691038..2691039 [GRCh38] Chr12:2800204..2800205 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1151A>C (p.Tyr384Ser) |
single nucleotide variant |
Long QT syndrome [RCV002912661] |
Chr12:2504879 [GRCh38] Chr12:2614045 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5047A>C (p.Met1683Leu) |
single nucleotide variant |
Long QT syndrome [RCV002927414] |
Chr12:2677823 [GRCh38] Chr12:2786989 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003294454]|Long QT syndrome [RCV003078954] |
Chr12:2593237 [GRCh38] Chr12:2702403 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-15G>C |
single nucleotide variant |
Long QT syndrome [RCV002659459] |
Chr12:2651625 [GRCh38] Chr12:2760791 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2558T>C (p.Met853Thr) |
single nucleotide variant |
Long QT syndrome [RCV003039401] |
Chr12:2593240 [GRCh38] Chr12:2702406 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.474C>T (p.Asn158=) |
single nucleotide variant |
Long QT syndrome [RCV002695270] |
Chr12:2120427 [GRCh38] Chr12:2229593 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664-6G>T |
single nucleotide variant |
Long QT syndrome [RCV002740080] |
Chr12:2595868 [GRCh38] Chr12:2705034 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6329G>C (p.Gly2110Ala) |
single nucleotide variant |
Long QT syndrome [RCV002621276] |
Chr12:2691111 [GRCh38] Chr12:2800277 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.318C>T (p.Cys106=) |
single nucleotide variant |
Long QT syndrome [RCV002871102] |
Chr12:2115492 [GRCh38] Chr12:2224658 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3718-4G>A |
single nucleotide variant |
Long QT syndrome [RCV003081601] |
Chr12:2611899 [GRCh38] Chr12:2721065 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1161A>G (p.Thr387=) |
single nucleotide variant |
Long QT syndrome [RCV003020700] |
Chr12:2504889 [GRCh38] Chr12:2614055 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2312AGGAGA[3] (p.Glu774_Arg775insLysGlu) |
microsatellite |
Long QT syndrome [RCV003020750] |
Chr12:2584589..2584590 [GRCh38] Chr12:2693755..2693756 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.206G>A (p.Gly69Asp) |
single nucleotide variant |
Long QT syndrome [RCV003021720] |
Chr12:2115380 [GRCh38] Chr12:2224546 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3837C>T (p.Phe1279=) |
single nucleotide variant |
Long QT syndrome [RCV003000147] |
Chr12:2634305 [GRCh38] Chr12:2743471 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4829-17C>G |
single nucleotide variant |
Long QT syndrome [RCV002619106] |
Chr12:2677077 [GRCh38] Chr12:2786243 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6041T>C (p.Val2014Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003080177]|Long QT syndrome [RCV003091857] |
Chr12:2688703 [GRCh38] Chr12:2797869 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6280del (p.Leu2094fs) |
deletion |
Long QT syndrome [RCV002846761] |
Chr12:2691060 [GRCh38] Chr12:2800226 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1840C>T (p.Leu614=) |
single nucleotide variant |
Long QT syndrome [RCV002785974] |
Chr12:2567739 [GRCh38] Chr12:2676905 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3410A>G (p.Asn1137Ser) |
single nucleotide variant |
Long QT syndrome [RCV003054045] |
Chr12:2608564 [GRCh38] Chr12:2717730 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5511T>C (p.Tyr1837=) |
single nucleotide variant |
Long QT syndrome [RCV003078211] |
Chr12:2682616 [GRCh38] Chr12:2791782 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3802C>T (p.Leu1268=) |
single nucleotide variant |
Long QT syndrome [RCV003036474] |
Chr12:2611987 [GRCh38] Chr12:2721153 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.585G>A (p.Trp195Ter) |
single nucleotide variant |
Long QT syndrome [RCV003037617] |
Chr12:2449083 [GRCh38] Chr12:2558249 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1509-17C>A |
single nucleotide variant |
Long QT syndrome [RCV003080091] |
Chr12:2566405 [GRCh38] Chr12:2675571 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.757+17C>A |
single nucleotide variant |
Long QT syndrome [RCV002886024] |
Chr12:2457723 [GRCh38] Chr12:2566889 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4668C>T (p.Val1556=) |
single nucleotide variant |
Long QT syndrome [RCV002619610] |
Chr12:2668977 [GRCh38] Chr12:2778143 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2461-10G>C |
single nucleotide variant |
Long QT syndrome [RCV002706318] |
Chr12:2585825 [GRCh38] Chr12:2694991 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4623+12C>T |
single nucleotide variant |
Long QT syndrome [RCV003079532] |
Chr12:2666794 [GRCh38] Chr12:2775960 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1332C>G (p.Ala444=) |
single nucleotide variant |
Long QT syndrome [RCV002998985] |
Chr12:2512926 [GRCh38] Chr12:2622092 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1668A>C (p.Gln556His) |
single nucleotide variant |
Long QT syndrome [RCV003036053] |
Chr12:2566581 [GRCh38] Chr12:2675747 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1571A>G (p.Asn524Ser) |
single nucleotide variant |
Long QT syndrome [RCV002780652] |
Chr12:2566484 [GRCh38] Chr12:2675650 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4329T>C (p.Gly1443=) |
single nucleotide variant |
Long QT syndrome [RCV002662414] |
Chr12:2664921 [GRCh38] Chr12:2774087 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2304G>C (p.Glu768Asp) |
single nucleotide variant |
Long QT syndrome [RCV003100245] |
Chr12:2584582 [GRCh38] Chr12:2693748 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2853+186T>C |
single nucleotide variant |
Long QT syndrome [RCV002622710] |
Chr12:2597475 [GRCh38] Chr12:2706641 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1062C>T (p.Leu354=) |
single nucleotide variant |
Long QT syndrome [RCV002885062] |
Chr12:2493335 [GRCh38] Chr12:2602501 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.95C>G (p.Ala32Gly) |
single nucleotide variant |
Long QT syndrome [RCV002796599] |
Chr12:2115269 [GRCh38] Chr12:2224435 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1217+18A>T |
single nucleotide variant |
Long QT syndrome [RCV003000173] |
Chr12:2504963 [GRCh38] Chr12:2614129 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4753C>G (p.Leu1585Val) |
single nucleotide variant |
Long QT syndrome [RCV003020369] |
Chr12:2674567 [GRCh38] Chr12:2783733 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4956+12G>A |
single nucleotide variant |
Long QT syndrome [RCV002780777] |
Chr12:2677233 [GRCh38] Chr12:2786399 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1307G>C (p.Gly436Ala) |
single nucleotide variant |
Long QT syndrome [RCV003077864] |
Chr12:2512901 [GRCh38] Chr12:2622067 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3096C>A (p.Ile1032=) |
single nucleotide variant |
Long QT syndrome [RCV002912574] |
Chr12:2605726 [GRCh38] Chr12:2714892 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4956+18G>T |
single nucleotide variant |
Long QT syndrome [RCV002592109] |
Chr12:2677239 [GRCh38] Chr12:2786405 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.592C>T (p.Leu198=) |
single nucleotide variant |
Long QT syndrome [RCV003053162] |
Chr12:2449090 [GRCh38] Chr12:2558256 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6039C>G (p.Pro2013=) |
single nucleotide variant |
Long QT syndrome [RCV002761163] |
Chr12:2688701 [GRCh38] Chr12:2797867 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.612T>G (p.Val204=) |
single nucleotide variant |
Long QT syndrome [RCV002870931] |
Chr12:2449110 [GRCh38] Chr12:2558276 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp) |
single nucleotide variant |
Long QT syndrome [RCV002619031]|not provided [RCV003234225] |
Chr12:2666726 [GRCh38] Chr12:2775892 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3558+20C>T |
single nucleotide variant |
Long QT syndrome [RCV002618992] |
Chr12:2608732 [GRCh38] Chr12:2717898 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5573+16C>T |
single nucleotide variant |
Long QT syndrome [RCV003080672] |
Chr12:2682694 [GRCh38] Chr12:2791860 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1895+8dup |
duplication |
Long QT syndrome [RCV003036128] |
Chr12:2567799..2567800 [GRCh38] Chr12:2676965..2676966 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.857G>C (p.Gly286Ala) |
single nucleotide variant |
Long QT syndrome [RCV003017998] |
Chr12:2486203 [GRCh38] Chr12:2595369 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4125G>A (p.Ala1375=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003274214]|Long QT syndrome [RCV003078071] |
Chr12:2653885 [GRCh38] Chr12:2763051 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5872del (p.Thr1958fs) |
deletion |
Long QT syndrome [RCV002821073] |
Chr12:2688534 [GRCh38] Chr12:2797700 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1670-8C>A |
single nucleotide variant |
Long QT syndrome [RCV002846705] |
Chr12:2567561 [GRCh38] Chr12:2676727 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.265C>G (p.Pro89Ala) |
single nucleotide variant |
Long QT syndrome [RCV002824866] |
Chr12:2115439 [GRCh38] Chr12:2224605 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.521C>G (p.Ala174Gly) |
single nucleotide variant |
Long QT syndrome [RCV003077550] |
Chr12:2449019 [GRCh38] Chr12:2558185 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2384C>T (p.Ala795Val) |
single nucleotide variant |
Long QT syndrome [RCV003037440] |
Chr12:2585420 [GRCh38] Chr12:2694586 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4727-45C>T |
single nucleotide variant |
Long QT syndrome [RCV003037441] |
Chr12:2674496 [GRCh38] Chr12:2783662 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3210-16_3210-14del |
deletion |
Long QT syndrome [RCV002591882] |
Chr12:2606966..2606968 [GRCh38] Chr12:2716132..2716134 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5092-15_5092-14dup |
duplication |
Long QT syndrome [RCV002705865] |
Chr12:2679428..2679429 [GRCh38] Chr12:2788594..2788595 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2486A>T (p.Asn829Ile) |
single nucleotide variant |
Long QT syndrome [RCV002591677] |
Chr12:2585860 [GRCh38] Chr12:2695026 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_152640.5(DCP1B):c.80A>G (p.Tyr27Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002844964] |
Chr12:2004352 [GRCh38] Chr12:2113518 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3261A>G (p.Gln1087=) |
single nucleotide variant |
Long QT syndrome [RCV003079797] |
Chr12:2607035 [GRCh38] Chr12:2716201 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5474T>C (p.Met1825Thr) |
single nucleotide variant |
Long QT syndrome [RCV002638838] |
Chr12:2682579 [GRCh38] Chr12:2791745 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2319G>A (p.Lys773=) |
single nucleotide variant |
Long QT syndrome [RCV002948497] |
Chr12:2584597 [GRCh38] Chr12:2693763 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4624-19T>C |
single nucleotide variant |
Long QT syndrome [RCV002735740] |
Chr12:2668914 [GRCh38] Chr12:2778080 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-3T>C |
single nucleotide variant |
Long QT syndrome [RCV003056602] |
Chr12:2682547 [GRCh38] Chr12:2791713 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5977G>A (p.Gly1993Ser) |
single nucleotide variant |
Long QT syndrome [RCV003085782] |
Chr12:2688639 [GRCh38] Chr12:2797805 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5444+13C>A |
single nucleotide variant |
Long QT syndrome [RCV002576341] |
Chr12:2679809 [GRCh38] Chr12:2788975 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5998_6006del (p.Pro2000_Gly2002del) |
deletion |
Long QT syndrome [RCV003085801] |
Chr12:2688659..2688667 [GRCh38] Chr12:2797825..2797833 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn) |
single nucleotide variant |
Long QT syndrome [RCV002574859]|not provided [RCV003317613] |
Chr12:2679480 [GRCh38] Chr12:2788646 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6337G>A (p.Asp2113Asn) |
single nucleotide variant |
Long QT syndrome [RCV002712143] |
Chr12:2691119 [GRCh38] Chr12:2800285 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1539C>T (p.Cys513=) |
single nucleotide variant |
Long QT syndrome [RCV002596475] |
Chr12:2566452 [GRCh38] Chr12:2675618 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2699C>T (p.Thr900Met) |
single nucleotide variant |
Long QT syndrome [RCV002741951] |
Chr12:2595909 [GRCh38] Chr12:2705075 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2470G>A (p.Asp824Asn) |
single nucleotide variant |
Long QT syndrome [RCV003083833] |
Chr12:2585844 [GRCh38] Chr12:2695010 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4828+16A>T |
single nucleotide variant |
Long QT syndrome [RCV002574115] |
Chr12:2674658 [GRCh38] Chr12:2783824 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.667G>A (p.Ala223Thr) |
single nucleotide variant |
Long QT syndrome [RCV002594255] |
Chr12:2457616 [GRCh38] Chr12:2566782 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4577del (p.Pro1526fs) |
deletion |
Long QT syndrome [RCV002917834] |
Chr12:2666735 [GRCh38] Chr12:2775901 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2664-3C>T |
single nucleotide variant |
Long QT syndrome [RCV002642650] |
Chr12:2595871 [GRCh38] Chr12:2705037 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3718-17C>G |
single nucleotide variant |
Long QT syndrome [RCV002666676] |
Chr12:2611886 [GRCh38] Chr12:2721052 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3717+16A>G |
single nucleotide variant |
Long QT syndrome [RCV003041583] |
Chr12:2610715 [GRCh38] Chr12:2719881 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4942G>C (p.Ala1648Pro) |
single nucleotide variant |
Long QT syndrome [RCV002928664] |
Chr12:2677207 [GRCh38] Chr12:2786373 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5418G>A (p.Glu1806=) |
single nucleotide variant |
Long QT syndrome [RCV002851926] |
Chr12:2679770 [GRCh38] Chr12:2788936 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4956+7G>A |
single nucleotide variant |
Long QT syndrome [RCV002766359] |
Chr12:2677228 [GRCh38] Chr12:2786394 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5668T>C (p.Ser1890Pro) |
single nucleotide variant |
Long QT syndrome [RCV003082117] |
Chr12:2685830 [GRCh38] Chr12:2794996 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4956+15G>A |
single nucleotide variant |
Long QT syndrome [RCV003005377] |
Chr12:2677236 [GRCh38] Chr12:2786402 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5717G>T (p.Arg1906Leu) |
single nucleotide variant |
Long QT syndrome [RCV002741076] |
Chr12:2686202 [GRCh38] Chr12:2795368 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2407A>G (p.Lys803Glu) |
single nucleotide variant |
Long QT syndrome [RCV002667768] |
Chr12:2585443 [GRCh38] Chr12:2694609 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5851C>G (p.Pro1951Ala) |
single nucleotide variant |
Long QT syndrome [RCV002623644] |
Chr12:2688513 [GRCh38] Chr12:2797679 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2456C>T (p.Thr819Ile) |
single nucleotide variant |
Long QT syndrome [RCV002853000] |
Chr12:2585492 [GRCh38] Chr12:2694658 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5133A>G (p.Gln1711=) |
single nucleotide variant |
Long QT syndrome [RCV002890067] |
Chr12:2679485 [GRCh38] Chr12:2788651 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3156+12G>T |
single nucleotide variant |
Long QT syndrome [RCV002917574] |
Chr12:2605798 [GRCh38] Chr12:2714964 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2751G>T (p.Leu917=) |
single nucleotide variant |
Long QT syndrome [RCV002625266] |
Chr12:2595961 [GRCh38] Chr12:2705127 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.758-6C>T |
single nucleotide variant |
Long QT syndrome [RCV003082059] |
Chr12:2486098 [GRCh38] Chr12:2595264 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5125T>C (p.Tyr1709His) |
single nucleotide variant |
Long QT syndrome [RCV002594660] |
Chr12:2679477 [GRCh38] Chr12:2788643 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2853+217C>A |
single nucleotide variant |
Long QT syndrome [RCV002766639] |
Chr12:2597506 [GRCh38] Chr12:2706672 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2411T>C (p.Ile804Thr) |
single nucleotide variant |
Long QT syndrome [RCV002982729] |
Chr12:2585447 [GRCh38] Chr12:2694613 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4141-20C>T |
single nucleotide variant |
Long QT syndrome [RCV002595368] |
Chr12:2655127 [GRCh38] Chr12:2764293 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1218-6C>G |
single nucleotide variant |
Long QT syndrome [RCV003006495] |
Chr12:2512806 [GRCh38] Chr12:2621972 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3558+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002766688] |
Chr12:2608729 [GRCh38] Chr12:2717895 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4912G>A (p.Gly1638Ser) |
single nucleotide variant |
Long QT syndrome [RCV003043371] |
Chr12:2677177 [GRCh38] Chr12:2786343 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1895+13C>T |
single nucleotide variant |
Long QT syndrome [RCV002954182] |
Chr12:2567807 [GRCh38] Chr12:2676973 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2573G>T (p.Arg858Leu) |
single nucleotide variant |
Long QT syndrome [RCV002643130] |
Chr12:2593255 [GRCh38] Chr12:2702421 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5701C>T (p.Leu1901=) |
single nucleotide variant |
Long QT syndrome [RCV003081911] |
Chr12:2686186 [GRCh38] Chr12:2795352 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4737A>G (p.Glu1579=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003289577]|Long QT syndrome [RCV002642478] |
Chr12:2674551 [GRCh38] Chr12:2783717 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+17G>A |
single nucleotide variant |
Long QT syndrome [RCV002828334] |
Chr12:2493403 [GRCh38] Chr12:2602569 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_001167623.2(CACNA1C):c.1185C>T (p.Phe395=) |
single nucleotide variant |
Long QT syndrome [RCV003084009] |
Chr12:2504507 [GRCh38] Chr12:2613673 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6282C>T (p.Leu2094=) |
single nucleotide variant |
Long QT syndrome [RCV003058846] |
Chr12:2691064 [GRCh38] Chr12:2800230 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1956C>T (p.Ala652=) |
single nucleotide variant |
Long QT syndrome [RCV002852378] |
Chr12:2581650 [GRCh38] Chr12:2690816 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3718-16C>T |
single nucleotide variant |
Long QT syndrome [RCV003005921] |
Chr12:2611887 [GRCh38] Chr12:2721053 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3965G>T (p.Arg1322Leu) |
single nucleotide variant |
Long QT syndrome [RCV003040562] |
Chr12:2651659 [GRCh38] Chr12:2760825 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.467A>G (p.Asn156Ser) |
single nucleotide variant |
Long QT syndrome [RCV002825648] |
Chr12:2120420 [GRCh38] Chr12:2229586 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5784+10A>T |
single nucleotide variant |
Long QT syndrome [RCV003005567] |
Chr12:2686279 [GRCh38] Chr12:2795445 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2346C>T (p.Ala782=) |
single nucleotide variant |
Long QT syndrome [RCV002594994] |
Chr12:2585382 [GRCh38] Chr12:2694548 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5334C>A (p.Leu1778=) |
single nucleotide variant |
Long QT syndrome [RCV002595351] |
Chr12:2679686 [GRCh38] Chr12:2788852 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5315A>C (p.Asn1772Thr) |
single nucleotide variant |
Long QT syndrome [RCV002988738] |
Chr12:2679667 [GRCh38] Chr12:2788833 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5751G>A (p.Lys1917=) |
single nucleotide variant |
Long QT syndrome [RCV002988740] |
Chr12:2686236 [GRCh38] Chr12:2795402 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.33A>G (p.Pro11=) |
single nucleotide variant |
Long QT syndrome [RCV002581747] |
Chr12:2053595 [GRCh38] Chr12:2162761 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5407C>A (p.Arg1803=) |
single nucleotide variant |
Long QT syndrome [RCV002676445] |
Chr12:2679759 [GRCh38] Chr12:2788925 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1693G>T (p.Ala565Ser) |
single nucleotide variant |
Long QT syndrome [RCV002721123] |
Chr12:2567592 [GRCh38] Chr12:2676758 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2960+18A>G |
single nucleotide variant |
Long QT syndrome [RCV002721087] |
Chr12:2601978 [GRCh38] Chr12:2711144 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2104-3C>T |
single nucleotide variant |
Long QT syndrome [RCV002632876] |
Chr12:2582819 [GRCh38] Chr12:2691985 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1640A>G (p.Asn547Ser) |
single nucleotide variant |
Long QT syndrome [RCV002580326] |
Chr12:2566553 [GRCh38] Chr12:2675719 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3209+19G>T |
single nucleotide variant |
Long QT syndrome [RCV002942008] |
Chr12:2606682 [GRCh38] Chr12:2715848 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4215C>G (p.Ala1405=) |
single nucleotide variant |
Long QT syndrome [RCV003049300] |
Chr12:2655221 [GRCh38] Chr12:2764387 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5570A>G (p.Glu1857Gly) |
single nucleotide variant |
Long QT syndrome [RCV003049063] |
Chr12:2682675 [GRCh38] Chr12:2791841 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3906G>C (p.Glu1302Asp) |
single nucleotide variant |
Long QT syndrome [RCV002812085] |
Chr12:2634374 [GRCh38] Chr12:2743540 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.142G>C (p.Ala48Pro) |
single nucleotide variant |
Long QT syndrome [RCV003087439] |
Chr12:2115316 [GRCh38] Chr12:2224482 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1896-15_1896-13del |
microsatellite |
Long QT syndrome [RCV002646104] |
Chr12:2581572..2581574 [GRCh38] Chr12:2690738..2690740 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4726+13G>T |
single nucleotide variant |
Long QT syndrome [RCV002629714] |
Chr12:2669048 [GRCh38] Chr12:2778214 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3810C>T (p.Leu1270=) |
single nucleotide variant |
Long QT syndrome [RCV003046678] |
Chr12:2611995 [GRCh38] Chr12:2721161 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6394A>C (p.Arg2132=) |
single nucleotide variant |
Long QT syndrome [RCV002647860] |
Chr12:2691176 [GRCh38] Chr12:2800342 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.661G>A (p.Ala221Thr) |
single nucleotide variant |
Long QT syndrome [RCV002599943] |
Chr12:2457610 [GRCh38] Chr12:2566776 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6294G>T (p.Val2098=) |
single nucleotide variant |
Long QT syndrome [RCV002833398] |
Chr12:2691076 [GRCh38] Chr12:2800242 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1113+7A>C |
single nucleotide variant |
Long QT syndrome [RCV002600246] |
Chr12:2493393 [GRCh38] Chr12:2602559 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5347G>A (p.Gly1783Ser) |
single nucleotide variant |
Long QT syndrome [RCV002938143] |
Chr12:2679699 [GRCh38] Chr12:2788865 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6338A>T (p.Asp2113Val) |
single nucleotide variant |
Long QT syndrome [RCV003029281] |
Chr12:2691120 [GRCh38] Chr12:2800286 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5176C>T (p.Arg1726Cys) |
single nucleotide variant |
Long QT syndrome [RCV003060213] |
Chr12:2679528 [GRCh38] Chr12:2788694 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3981C>T (p.Phe1327=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003274301]|Long QT syndrome [RCV002628885] |
Chr12:2651675 [GRCh38] Chr12:2760841 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6391A>G (p.Ser2131Gly) |
single nucleotide variant |
Long QT syndrome [RCV002647484] |
Chr12:2691173 [GRCh38] Chr12:2800339 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5320G>T (p.Ala1774Ser) |
single nucleotide variant |
Long QT syndrome [RCV003043806] |
Chr12:2679672 [GRCh38] Chr12:2788838 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4140+20G>A |
single nucleotide variant |
Long QT syndrome [RCV002650587] |
Chr12:2653920 [GRCh38] Chr12:2763086 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3558+4G>A |
single nucleotide variant |
Long QT syndrome [RCV003062400] |
Chr12:2608716 [GRCh38] Chr12:2717882 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6022G>C (p.Ala2008Pro) |
single nucleotide variant |
Long QT syndrome [RCV003030616] |
Chr12:2688684 [GRCh38] Chr12:2797850 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2574_2579del (p.858RP[1]) |
deletion |
Long QT syndrome [RCV003063753] |
Chr12:2593254..2593259 [GRCh38] Chr12:2702420..2702425 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5520G>A (p.Lys1840=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003167466]|Long QT syndrome [RCV002597973] |
Chr12:2682625 [GRCh38] Chr12:2791791 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6019GCC[3] (p.Ala2008_Arg2009insAla) |
microsatellite |
Long QT syndrome [RCV003028639] |
Chr12:2688679..2688680 [GRCh38] Chr12:2797845..2797846 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1528A>G (p.Asn510Asp) |
single nucleotide variant |
Long QT syndrome [RCV003087743] |
Chr12:2566441 [GRCh38] Chr12:2675607 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5371G>A (p.Val1791Met) |
single nucleotide variant |
Long QT syndrome [RCV002647812] |
Chr12:2679723 [GRCh38] Chr12:2788889 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4102G>A (p.Val1368Met) |
single nucleotide variant |
Long QT syndrome [RCV002601615] |
Chr12:2653862 [GRCh38] Chr12:2763028 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2484C>T (p.Pro828=) |
single nucleotide variant |
Long QT syndrome [RCV002629484] |
Chr12:2585858 [GRCh38] Chr12:2695024 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3049-14C>G |
single nucleotide variant |
Long QT syndrome [RCV002811072] |
Chr12:2605665 [GRCh38] Chr12:2714831 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4140+12C>T |
single nucleotide variant |
Long QT syndrome [RCV002579339] |
Chr12:2653912 [GRCh38] Chr12:2763078 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.714C>A (p.Ala238=) |
single nucleotide variant |
Long QT syndrome [RCV003046761] |
Chr12:2457663 [GRCh38] Chr12:2566829 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1519C>T (p.Arg507Cys) |
single nucleotide variant |
Long QT syndrome [RCV002628382] |
Chr12:2566432 [GRCh38] Chr12:2675598 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2047C>G (p.Gln683Glu) |
single nucleotide variant |
Long QT syndrome [RCV003088336] |
Chr12:2581741 [GRCh38] Chr12:2690907 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6249C>T (p.Ser2083=) |
single nucleotide variant |
Long QT syndrome [RCV003089382] |
Chr12:2691031 [GRCh38] Chr12:2800197 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2455A>C (p.Thr819Pro) |
single nucleotide variant |
Long QT syndrome [RCV002600029] |
Chr12:2585491 [GRCh38] Chr12:2694657 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6228C>A (p.Ser2076Arg) |
single nucleotide variant |
Long QT syndrome [RCV002630143] |
Chr12:2691010 [GRCh38] Chr12:2800176 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3873T>C (p.Val1291=) |
single nucleotide variant |
Long QT syndrome [RCV003031196] |
Chr12:2634341 [GRCh38] Chr12:2743507 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4527-9C>G |
single nucleotide variant |
Long QT syndrome [RCV003044428] |
Chr12:2666677 [GRCh38] Chr12:2775843 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3597G>A (p.Leu1199=) |
single nucleotide variant |
Long QT syndrome [RCV002577782] |
Chr12:2610579 [GRCh38] Chr12:2719745 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1342_1343delinsCT (p.Asp448Leu) |
indel |
Long QT syndrome [RCV003044015] |
Chr12:2512936..2512937 [GRCh38] Chr12:2622102..2622103 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5585A>G (p.Gln1862Arg) |
single nucleotide variant |
Long QT syndrome [RCV002810082] |
Chr12:2685747 [GRCh38] Chr12:2794913 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly) |
single nucleotide variant |
Long QT syndrome [RCV003091462]|not provided [RCV003151911] |
Chr12:2688600 [GRCh38] Chr12:2797766 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4726+19A>G |
single nucleotide variant |
Long QT syndrome [RCV002650096] |
Chr12:2669054 [GRCh38] Chr12:2778220 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.817C>T (p.Leu273=) |
single nucleotide variant |
Long QT syndrome [RCV003061470] |
Chr12:2486163 [GRCh38] Chr12:2595329 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5623G>C (p.Asp1875His) |
single nucleotide variant |
Long QT syndrome [RCV002922181] |
Chr12:2685785 [GRCh38] Chr12:2794951 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.152C>T (p.Ser51Leu) |
single nucleotide variant |
Long QT syndrome [RCV003086050] |
Chr12:2115326 [GRCh38] Chr12:2224492 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3839G>T (p.Cys1280Phe) |
single nucleotide variant |
Long QT syndrome [RCV002966486] |
Chr12:2634307 [GRCh38] Chr12:2743473 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5088C>T (p.Phe1696=) |
single nucleotide variant |
Long QT syndrome [RCV002833000] |
Chr12:2677864 [GRCh38] Chr12:2787030 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5785-20C>T |
single nucleotide variant |
Long QT syndrome [RCV003065540] |
Chr12:2688427 [GRCh38] Chr12:2797593 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5867C>A (p.Pro1956Gln) |
single nucleotide variant |
Long QT syndrome [RCV002895307] |
Chr12:2688529 [GRCh38] Chr12:2797695 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6219G>C (p.Glu2073Asp) |
single nucleotide variant |
Long QT syndrome [RCV003046871] |
Chr12:2691001 [GRCh38] Chr12:2800167 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.50-6C>T |
single nucleotide variant |
Long QT syndrome [RCV003069206] |
Chr12:2115218 [GRCh38] Chr12:2224384 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6341C>A (p.Ala2114Glu) |
single nucleotide variant |
Long QT syndrome [RCV003050080] |
Chr12:2691123 [GRCh38] Chr12:2800289 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4515C>T (p.Asp1505=) |
single nucleotide variant |
Long QT syndrome [RCV003066843] |
Chr12:2665697 [GRCh38] Chr12:2774863 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5620G>A (p.Glu1874Lys) |
single nucleotide variant |
Long QT syndrome [RCV002635994] |
Chr12:2685782 [GRCh38] Chr12:2794948 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3828+17G>A |
single nucleotide variant |
Long QT syndrome [RCV003092584] |
Chr12:2612030 [GRCh38] Chr12:2721196 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.917-15T>C |
single nucleotide variant |
Long QT syndrome [RCV002582562] |
Chr12:2493175 [GRCh38] Chr12:2602341 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2664-18G>A |
single nucleotide variant |
Long QT syndrome [RCV003068648] |
Chr12:2595856 [GRCh38] Chr12:2705022 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5300_5314dup (p.Asn1771_Asn1772insIleAsnAsnAlaAsn) |
duplication |
Long QT syndrome [RCV002943797] |
Chr12:2679640..2679641 [GRCh38] Chr12:2788806..2788807 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5844C>T (p.Phe1948=) |
single nucleotide variant |
Long QT syndrome [RCV003092761] |
Chr12:2688506 [GRCh38] Chr12:2797672 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1508+19G>T |
single nucleotide variant |
Long QT syndrome [RCV002605305] |
Chr12:2556996 [GRCh38] Chr12:2666162 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4726+15G>A |
single nucleotide variant |
Long QT syndrome [RCV003066670] |
Chr12:2669050 [GRCh38] Chr12:2778216 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5190CAA[1] (p.Asn1731del) |
microsatellite |
Long QT syndrome [RCV002725755] |
Chr12:2679542..2679544 [GRCh38] Chr12:2788708..2788710 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3996G>A (p.Arg1332=) |
single nucleotide variant |
Long QT syndrome [RCV003069001] |
Chr12:2651690 [GRCh38] Chr12:2760856 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4048C>T (p.Leu1350=) |
single nucleotide variant |
Long QT syndrome [RCV003051529] |
Chr12:2651742 [GRCh38] Chr12:2760908 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2987T>C (p.Ile996Thr) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV002814353] |
Chr12:2605107 [GRCh38] Chr12:2714273 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.930A>G (p.Glu310=) |
single nucleotide variant |
Long QT syndrome [RCV002586727] |
Chr12:2493203 [GRCh38] Chr12:2602369 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6072C>A (p.Ala2024=) |
single nucleotide variant |
Long QT syndrome [RCV002586743] |
Chr12:2688734 [GRCh38] Chr12:2797900 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2496G>A (p.Glu832=) |
single nucleotide variant |
Long QT syndrome [RCV002608428] |
Chr12:2585870 [GRCh38] Chr12:2695036 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2531-13G>A |
single nucleotide variant |
Long QT syndrome [RCV003066365] |
Chr12:2593200 [GRCh38] Chr12:2702366 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2850G>A (p.Leu950=) |
single nucleotide variant |
Long QT syndrome [RCV003051751] |
Chr12:2597286 [GRCh38] Chr12:2706452 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1896-18C>T |
single nucleotide variant |
Long QT syndrome [RCV003071626] |
Chr12:2581572 [GRCh38] Chr12:2690738 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3156+10G>T |
single nucleotide variant |
Long QT syndrome [RCV002814421] |
Chr12:2605796 [GRCh38] Chr12:2714962 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.372-18C>T |
single nucleotide variant |
Long QT syndrome [RCV002726146] |
Chr12:2120307 [GRCh38] Chr12:2229473 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1114-285A>G |
single nucleotide variant |
Long QT syndrome [RCV002605925] |
Chr12:2504557 [GRCh38] Chr12:2613723 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5141G>T (p.Gly1714Val) |
single nucleotide variant |
Long QT syndrome [RCV002676739] |
Chr12:2679493 [GRCh38] Chr12:2788659 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1670-13C>T |
single nucleotide variant |
Long QT syndrome [RCV003073368] |
Chr12:2567556 [GRCh38] Chr12:2676722 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4533T>A (p.Arg1511=) |
single nucleotide variant |
Long QT syndrome [RCV002585507] |
Chr12:2666692 [GRCh38] Chr12:2775858 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1896-20T>C |
single nucleotide variant |
Long QT syndrome [RCV003073435] |
Chr12:2581570 [GRCh38] Chr12:2690736 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1218-14C>T |
single nucleotide variant |
Long QT syndrome [RCV003032069] |
Chr12:2512798 [GRCh38] Chr12:2621964 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.478-17C>T |
single nucleotide variant |
Long QT syndrome [RCV003092306] |
Chr12:2448959 [GRCh38] Chr12:2558125 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.543T>C (p.Tyr181=) |
single nucleotide variant |
Long QT syndrome [RCV003069881] |
Chr12:2449041 [GRCh38] Chr12:2558207 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4623+16G>A |
single nucleotide variant |
Long QT syndrome [RCV003051488] |
Chr12:2666798 [GRCh38] Chr12:2775964 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5769T>C (p.His1923=) |
single nucleotide variant |
Long QT syndrome [RCV003049807] |
Chr12:2686254 [GRCh38] Chr12:2795420 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6201C>T (p.Cys2067=) |
single nucleotide variant |
Long QT syndrome [RCV002610865] |
Chr12:2690983 [GRCh38] Chr12:2800149 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6168C>T (p.Ile2056=) |
single nucleotide variant |
Long QT syndrome [RCV002607282] |
Chr12:2690950 [GRCh38] Chr12:2800116 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3913C>A (p.Pro1305Thr) |
single nucleotide variant |
Long QT syndrome [RCV002585144] |
Chr12:2648475 [GRCh38] Chr12:2757641 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1114-422T>G |
single nucleotide variant |
Long QT syndrome [RCV003069657] |
Chr12:2504420 [GRCh38] Chr12:2613586 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5445-4G>A |
single nucleotide variant |
Long QT syndrome [RCV002584031] |
Chr12:2682546 [GRCh38] Chr12:2791712 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6252G>A (p.Gly2084=) |
single nucleotide variant |
Long QT syndrome [RCV003072097] |
Chr12:2691034 [GRCh38] Chr12:2800200 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5716C>A (p.Arg1906=) |
single nucleotide variant |
Long QT syndrome [RCV003070034] |
Chr12:2686201 [GRCh38] Chr12:2795367 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.618-12C>A |
single nucleotide variant |
Long QT syndrome [RCV002589684] |
Chr12:2457555 [GRCh38] Chr12:2566721 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5162C>T (p.Thr1721Ile) |
single nucleotide variant |
Long QT syndrome [RCV002612208] |
Chr12:2679514 [GRCh38] Chr12:2788680 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3356+20C>T |
single nucleotide variant |
Long QT syndrome [RCV003070843] |
Chr12:2607150 [GRCh38] Chr12:2716316 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.345G>A (p.Arg115=) |
single nucleotide variant |
Long QT syndrome [RCV002721386] |
Chr12:2115519 [GRCh38] Chr12:2224685 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1218-16C>G |
single nucleotide variant |
Long QT syndrome [RCV003050872] |
Chr12:2512796 [GRCh38] Chr12:2621962 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 |
copy number gain |
Pallister-Killian syndrome [RCV003154827] |
Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val) |
single nucleotide variant |
not provided [RCV003227423] |
Chr12:2679646 [GRCh38] Chr12:2788812 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177438] |
Chr12:2688501 [GRCh38] Chr12:2797667 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177439] |
Chr12:2677151 [GRCh38] Chr12:2786317 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3771C>T (p.Leu1257=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177440] |
Chr12:2611956 [GRCh38] Chr12:2721122 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5880C>T (p.Gly1960=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177441] |
Chr12:2688542 [GRCh38] Chr12:2797708 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2721C>T (p.Leu907=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177431] |
Chr12:2595931 [GRCh38] Chr12:2705097 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177432] |
Chr12:2679762 [GRCh38] Chr12:2788928 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177434] |
Chr12:2688479 [GRCh38] Chr12:2797645 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177442]|not provided [RCV003443178] |
Chr12:2608616 [GRCh38] Chr12:2717782 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4191C>T (p.Asn1397=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177443] |
Chr12:2655197 [GRCh38] Chr12:2764363 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6117+3A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV003177444] |
Chr12:2688782 [GRCh38] Chr12:2797948 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177445] |
Chr12:2115295 [GRCh38] Chr12:2224461 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs) |
deletion |
Cardiovascular phenotype [RCV003177446] |
Chr12:2608678..2608681 [GRCh38] Chr12:2717844..2717847 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys) |
single nucleotide variant |
not provided [RCV003228420] |
Chr12:2584574 [GRCh38] Chr12:2693740 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1391-2480G>A |
single nucleotide variant |
not provided [RCV003222749] |
Chr12:2547463 [GRCh38] Chr12:2656629 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met) |
single nucleotide variant |
not provided [RCV003225305] |
Chr12:2493375 [GRCh38] Chr12:2602541 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177435] |
Chr12:2685827 [GRCh38] Chr12:2794993 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177436] |
Chr12:2685816 [GRCh38] Chr12:2794982 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6408C>T (p.Ser2136=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177437] |
Chr12:2691190 [GRCh38] Chr12:2800356 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr) |
single nucleotide variant |
not provided [RCV003143895] |
Chr12:2605140 [GRCh38] Chr12:2714306 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.-2C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003294646]|not provided [RCV003143896] |
Chr12:2053561 [GRCh38] Chr12:2162727 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2530+1G>A |
single nucleotide variant |
not provided [RCV003143897] |
Chr12:2585905 [GRCh38] Chr12:2695071 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg) |
single nucleotide variant |
not provided [RCV003143898] |
Chr12:2549959 [GRCh38] Chr12:2659125 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3502A>G (p.Thr1168Ala) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003152848] |
Chr12:2608656 [GRCh38] Chr12:2717822 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu) |
single nucleotide variant |
not provided [RCV003227143] |
Chr12:2582832 [GRCh38] Chr12:2691998 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177433] |
Chr12:2682669 [GRCh38] Chr12:2791835 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr) |
single nucleotide variant |
not provided [RCV003321399] |
Chr12:2653860 [GRCh38] Chr12:2763026 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter) |
single nucleotide variant |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies [RCV003324667] |
Chr12:2486109 [GRCh38] Chr12:2595275 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.6359G>T (p.Arg2120Leu) |
single nucleotide variant |
not provided [RCV003319832] |
Chr12:2691141 [GRCh38] Chr12:2800307 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003306813] |
Chr12:2115400 [GRCh38] Chr12:2224566 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2175A>G (p.Pro725=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003306815] |
Chr12:2582893 [GRCh38] Chr12:2692059 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003306816] |
Chr12:2457568 [GRCh38] Chr12:2566734 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003306817] |
Chr12:2115301 [GRCh38] Chr12:2224467 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.728G>A (p.Arg243His) |
single nucleotide variant |
not provided [RCV003324909] |
Chr12:2457677 [GRCh38] Chr12:2566843 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2322G>C (p.Glu774Asp) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003322658] |
Chr12:2584600 [GRCh38] Chr12:2693766 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2225-8A>C |
single nucleotide variant |
not provided [RCV003321285] |
Chr12:2584495 [GRCh38] Chr12:2693661 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4233-1G>A |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003326222] |
Chr12:2664824 [GRCh38] Chr12:2773990 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.2365G>C (p.Glu789Gln) |
single nucleotide variant |
Long qt syndrome 8 [RCV003337813] |
Chr12:2585401 [GRCh38] Chr12:2694567 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:2791716-2791844)x3 |
copy number gain |
not provided [RCV003398322] |
Chr12:2791716..2791844 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1084A>G (p.Met362Val) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003329218] |
Chr12:2493357 [GRCh38] Chr12:2602523 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1381C>T (p.Pro461Ser) |
single nucleotide variant |
Long qt syndrome 8 [RCV003338139] |
Chr12:2512975 [GRCh38] Chr12:2622141 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp) |
single nucleotide variant |
Timothy syndrome [RCV003336597] |
Chr12:2691186 [GRCh38] Chr12:2800352 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.477+100598G>A |
single nucleotide variant |
Timothy syndrome [RCV003336055] |
Chr12:2221028 [GRCh38] Chr12:2330194 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2460+2T>G |
single nucleotide variant |
CACNA1C-Related Disorder [RCV003387615] |
Chr12:2585498 [GRCh38] Chr12:2694664 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter) |
single nucleotide variant |
Timothy syndrome [RCV003387659] |
Chr12:2688546 [GRCh38] Chr12:2797712 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.4004G>C (p.Arg1335Pro) |
single nucleotide variant |
not provided [RCV003387644] |
Chr12:2651698 [GRCh38] Chr12:2760864 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2451C>G (p.Pro817=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003358450] |
Chr12:2585487 [GRCh38] Chr12:2694653 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1350G>A (p.Glu450=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003358449] |
Chr12:2512944 [GRCh38] Chr12:2622110 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360720] |
Chr12:2556953 [GRCh38] Chr12:2666119 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360721] |
Chr12:2691055 [GRCh38] Chr12:2800221 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.4101C>T (p.Ile1367=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360723] |
Chr12:2653861 [GRCh38] Chr12:2763027 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3913-18A>G |
single nucleotide variant |
not specified [RCV003331729] |
Chr12:2648457 [GRCh38] Chr12:2757623 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360719] |
Chr12:2691085 [GRCh38] Chr12:2800251 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360722] |
Chr12:2585384 [GRCh38] Chr12:2694550 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003360718] |
Chr12:2605088 [GRCh38] Chr12:2714254 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.18G>T (p.Thr6=) |
single nucleotide variant |
not provided [RCV003396109] |
Chr12:2053580 [GRCh38] Chr12:2162746 [GRCh37] Chr12:12p13.33 |
likely benign |
GRCh37/hg19 12p13.33(chr12:2775404-3044582)x3 |
copy number gain |
See cases [RCV003445448] |
Chr12:2775404..3044582 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs) |
duplication |
CACNA1C-Related Disorders [RCV003335878] |
Chr12:2504884..2504885 [GRCh38] Chr12:2614050..2614051 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter) |
single nucleotide variant |
not provided [RCV003332877] |
Chr12:2115478 [GRCh38] Chr12:2224644 [GRCh37] Chr12:12p13.33 |
pathogenic |
NM_000719.7(CACNA1C):c.1892C>T (p.Thr631Met) |
single nucleotide variant |
Long QT syndrome [RCV003875700] |
Chr12:2567791 [GRCh38] Chr12:2676957 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2481G>C (p.Gln827His) |
single nucleotide variant |
Long QT syndrome [RCV003875605] |
Chr12:2585855 [GRCh38] Chr12:2695021 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33(chr12:173787-2431561)x1 |
copy number loss |
not provided [RCV003483145] |
Chr12:173787..2431561 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2339+11A>C |
single nucleotide variant |
Long QT syndrome [RCV003873992] |
Chr12:2584628 [GRCh38] Chr12:2693794 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003447775] |
Chr12:2605715 [GRCh38] Chr12:2714881 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
GRCh37/hg19 12p13.33(chr12:2315926-2674054)x3 |
copy number gain |
not provided [RCV003484862] |
Chr12:2315926..2674054 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3483C>G (p.Phe1161Leu) |
single nucleotide variant |
not provided [RCV003443683] |
Chr12:2608637 [GRCh38] Chr12:2717803 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2794-3C>T |
single nucleotide variant |
not provided [RCV003443893] |
Chr12:2597227 [GRCh38] Chr12:2706393 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5065G>T (p.Ala1689Ser) |
single nucleotide variant |
CACNA1C-related condition [RCV003404524] |
Chr12:2677841 [GRCh38] Chr12:2787007 [GRCh37] Chr12:12p13.33 |
uncertain significance |
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 |
copy number loss |
not provided [RCV003483146] |
Chr12:191243..5332596 [GRCh37] Chr12:12p13.33-13.32 |
pathogenic |
NM_000719.7(CACNA1C):c.5444+669G>A |
single nucleotide variant |
not provided [RCV003396110] |
Chr12:2680465 [GRCh38] Chr12:2789631 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.3239A>T (p.Glu1080Val) |
single nucleotide variant |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures [RCV003448641] |
Chr12:2607013 [GRCh38] Chr12:2716179 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys) |
single nucleotide variant |
CACNA1C-related condition [RCV003404289] |
Chr12:2115233 [GRCh38] Chr12:2224399 [GRCh37] Chr12:12p13.33 |
likely benign|uncertain significance |
NM_000719.7(CACNA1C):c.4786A>C (p.Thr1596Pro) |
single nucleotide variant |
Long qt syndrome 8 [RCV003391169] |
Chr12:2674600 [GRCh38] Chr12:2783766 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2905T>G (p.Phe969Val) |
single nucleotide variant |
CACNA1C-related condition [RCV003419011] |
Chr12:2601905 [GRCh38] Chr12:2711071 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.823G>C (p.Val275Leu) |
single nucleotide variant |
not provided [RCV003443870] |
Chr12:2486169 [GRCh38] Chr12:2595335 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3751A>G (p.Met1251Val) |
single nucleotide variant |
not provided [RCV003443872] |
Chr12:2611936 [GRCh38] Chr12:2721102 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5246T>C (p.Val1749Ala) |
single nucleotide variant |
CACNA1C-related condition [RCV003391672] |
Chr12:2679598 [GRCh38] Chr12:2788764 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6117+11C>T |
single nucleotide variant |
not provided [RCV003396111] |
Chr12:2688790 [GRCh38] Chr12:2797956 [GRCh37] Chr12:12p13.33 |
likely benign |
Single allele |
duplication |
not provided [RCV003448692] |
Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_000719.7(CACNA1C):c.3946-43del |
deletion |
CACNA1C-related condition [RCV003416928] |
Chr12:2651597 [GRCh38] Chr12:2760763 [GRCh37] Chr12:12p13.33 |
likely pathogenic |
NM_000719.7(CACNA1C):c.4343G>A (p.Gly1448Asp) |
single nucleotide variant |
CACNA1C-related condition [RCV003404233] |
Chr12:2664935 [GRCh38] Chr12:2774101 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.3946-59C>G |
single nucleotide variant |
CACNA1C-related condition [RCV003392977] |
Chr12:2651581 [GRCh38] Chr12:2760747 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1604T>C (p.Phe535Ser) |
single nucleotide variant |
Hypertrophic cardiomyopathy [RCV003447692] |
Chr12:2566517 [GRCh38] Chr12:2675683 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.5476_5490dup (p.Glu1830_Thr1831insAlaGlyGlnGluGlu) |
duplication |
not provided [RCV003443409] |
Chr12:2682579..2682580 [GRCh38] Chr12:2791745..2791746 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys) |
single nucleotide variant |
Brugada syndrome 3 [RCV003447811] |
Chr12:2512870 [GRCh38] Chr12:2622036 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.6204C>A (p.Asp2068Glu) |
single nucleotide variant |
Long QT syndrome [RCV003647284] |
Chr12:2690986 [GRCh38] Chr12:2800152 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.5304C>T (p.Asn1768=) |
single nucleotide variant |
Long QT syndrome [RCV003647322] |
Chr12:2679656 [GRCh38] Chr12:2788822 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.371+20C>T |
single nucleotide variant |
Long QT syndrome [RCV003647379] |
Chr12:2115565 [GRCh38] Chr12:2224731 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.1481+10C>A |
single nucleotide variant |
Long QT syndrome [RCV003824975] |
Chr12:2550043 [GRCh38] Chr12:2659209 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.2649C>T (p.Phe883=) |
single nucleotide variant |
Long QT syndrome [RCV003647367] |
Chr12:2593331 [GRCh38] Chr12:2702497 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.4071C>T (p.Phe1357=) |
single nucleotide variant |
Long QT syndrome [RCV003877808] |
Chr12:2651765 [GRCh38] Chr12:2760931 [GRCh37] Chr12:12p13.33 |
likely benign |
NM_000719.7(CACNA1C):c.6202G>A (p.Asp2068Asn) |
single nucleotide variant |
Long QT syndrome [RCV003879091] |
Chr12:2690984 [GRCh38] Chr12:2800150 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2723T>C (p.Phe908Ser) |
single nucleotide variant |
Long QT syndrome [RCV003876354] |
Chr12:2595933 [GRCh38] Chr12:2705099 [GRCh37] Chr12:12p13.33 |
uncertain significance |
NM_000719.7(CACNA1C):c.2002C>T (p.Leu668=) |
single nucleotide variant |
Long QT syndrome [RCV003876959] |
Chr12:2581696 [GRCh38] Chr12:2690862 [GRCh37] Chr12:12p13.33 |
likely benign |