Q14524
PR
Gene name |
SCN5A |
Protein name |
Sodium channel protein type 5 subunit alpha |
Names |
Sodium channel protein cardiac muscle subunit alpha, Sodium channel protein type V subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.5, hH1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6331 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
12 structures for Q14524
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KBI | NMR | - | A | 1773-1865 | PDB |
| 2L53 | NMR | - | B | 1901-1927 | PDB |
| 4DCK | X-ray | 220 A | A | 1773-1940 | PDB |
| 4DJC | X-ray | 135 A | B | 1491-1522 | PDB |
| 4JQ0 | X-ray | 384 A | D | 1773-1940 | PDB |
| 4OVN | X-ray | 280 A | F/G/H/I/J | 1773-1929 | PDB |
| 5DBR | X-ray | 225 A | C | 1483-1529 | PDB |
| 6LQA | EM | 330 A | B | 1-2016 | PDB |
| 6MUD | X-ray | 269 A | B | 1786-1922 | PDB |
| 7DTC | EM | 330 A | A | 1-2016 | PDB |
| 7L83 | NMR | - | A | 1597-1633 | PDB |
| AF-Q14524-F1 | Predicted | AlphaFoldDB |
2612 variants for Q14524
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs199473550 RCV000058625 |
1 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001147540 RCV002483114 RCV001842376 RCV000058735 rs199473042 RCV001146627 RCV001147541 CA018838 RCV001146626 RCV001147539 RCV001147538 |
2 | A>T | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA72951858 RCV001760149 rs933949794 RCV001841168 RCV001245113 |
7 | P>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA056648 RCV000619935 RCV001841795 RCV001860378 rs564261427 |
8 | R>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001841859 RCV000691124 COSM1235682 COSM1235683 rs1490175548 CA352159577 |
8 | R>W | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001842592 RCV002427513 CA056659 rs756805318 RCV001042642 |
9 | G>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473043 RCV000058520 VAR_036660 COSM3660532 RCV001854219 COSM3660531 CA016420 |
9 | G>V | Brugada syndrome liver Congenital long QT syndrome LQT3 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs749521404 TCGA novel RCV001337856 CA72951853 |
11 | S>R | Variant assessed as Somatic; impact. Brugada syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs752553088 RCV001564789 RCV002560805 RCV002327435 RCV001843075 CA056713 |
15 | R>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352159392 RCV002330863 rs373410109 RCV000526460 |
15 | R>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001205624 RCV000151810 RCV003137650 RCV002326869 RCV001842478 rs373410109 RCV002492562 CA018362 |
15 | R>T | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs41311087 RCV002345328 CA019208 RCV000802409 RCV000766749 VAR_074312 RCV000058779 RCV001841609 RCV000041626 |
18 | R>Q | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome BRGDA1 and LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA019099 VAR_068325 RCV000619162 RCV000157474 RCV001146621 RCV001081482 RCV001146622 RCV000987246 RCV001146625 RCV001842382 RCV000058764 RCV000212988 RCV001146623 rs199473044 RCV000623091 RCV001146624 |
18 | R>W | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Arrhythmogenic right ventricular cardiomyopathy Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Brugada syndrome 1 (brgda1) Catecholaminergic polymorphic ventricular tachycardia 1 Dilated cardiomyopathy 1E Long qt syndrome 3 (lqt3) rare variant; found in a patient with long QT syndrome; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA056794 rs776925980 RCV002480001 RCV000694558 RCV000272753 |
22 | A>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2062569061 RCV001843194 RCV001876122 |
24 | I>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747251132 CA019786 RCV000687411 RCV001842526 RCV000171704 |
25 | E>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002508938 RCV000786216 CA056855 rs746360906 RCV000552525 |
27 | R>C | Brugada syndrome Variant assessed as Somatic; 0.0 impact. SCN5A-Related Disorders [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA019812 VAR_026341 RCV000987245 RCV000234990 RCV001087217 rs199473045 RCV001842412 RCV000058846 RCV002415517 RCV000713149 |
27 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Brugada syndrome 1 BRGDA1 and LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001296119 rs1284557438 COSM1224884 COSM1224885 CA352159062 |
28 | M>I | Brugada syndrome large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001841954 CA056888 CA352159073 rs748805919 RCV000522306 RCV001841412 RCV002536682 |
28 | M>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs562675882 RCV000182921 CA019875 RCV001043149 RCV002500541 |
29 | A>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199473551 CA019935 RCV000058861 VAR_074695 RCV002513772 |
30 | E>G | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001842692 rs2062567690 |
32 | Q>E | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553607617 RCV000532753 CA352158965 |
32 | Q>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352158919 rs1288398293 RCV001841119 |
33 | A>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000244721 RCV001094908 RCV000277696 RCV001841583 RCV000058380 RCV000041594 rs6791924 VAR_026342 RCV000372880 CA014158 RCV000357684 RCV000263131 RCV000318270 RCV000332754 |
34 | R>C | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs6791924 RCV001843250 |
34 | R>G | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473046 CA014189 RCV001039546 RCV001807774 RCV000058383 RCV001841768 VAR_074313 |
34 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1131691708 RCV000560463 RCV000493678 |
35 | G>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456961 rs1060501142 |
35 | G>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694314 CA72951833 rs867508345 |
35 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001149279 RCV001569891 RCV002281902 RCV000058384 rs199473552 RCV001841769 CA014210 |
35 | G>S | Cardiac arrhythmia Brugada syndrome SCN5A-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA056471 RCV001040587 rs753953732 RCV001842588 |
37 | T>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205318 rs2062566716 RCV002451432 |
38 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052799 rs2062566545 |
40 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553607598 CA352158714 RCV001860360 RCV000617811 |
41 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352158671 rs1553607597 RCV002265957 COSM369088 RCV001843273 |
43 | R>* | lung Cardiac arrhythmia Brugada syndrome 1 Brugada syndrome 1 (brgda1) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA014665 RCV001842274 RCV000537069 RCV000058412 rs199473047 VAR_055159 |
43 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2062565976 RCV001229198 |
44 | E>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183168 CA014866 RCV000825449 RCV001293135 RCV001842282 RCV000678959 rs199473048 RCV000058423 RCV000638715 VAR_074696 |
48 | E>K | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 Primary dilated cardiomyopathy LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001202296 RCV001843117 rs2062565358 |
50 | E>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014919 rs727505131 RCV000765742 RCV001842493 RCV000156589 |
51 | A>V | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_074697 rs199473553 RCV002477194 RCV000058428 RCV001854216 CA014968 |
52 | P>S | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001842286 VAR_074698 CA015041 RCV001205628 COSM1327578 RCV000058433 rs199473049 RCV003162454 RCV001582556 COSM1327579 |
53 | R>Q | Cardiac arrhythmia ovary Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA72951821 COSM1580060 COSM1580061 RCV002402807 RCV001269146 RCV001701311 RCV001880173 rs878859550 |
53 | R>W | Brugada syndrome pancreas central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV002223274 RCV001843045 rs1407018433 CA352158329 RCV001875944 |
60 | A>P | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2062564269 RCV001841177 |
63 | K>missing | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001841176 CA352158249 rs1202614416 RCV001215626 |
65 | P>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000550214 rs1553607561 RCV000618683 CA352158175 |
68 | Y>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001840998 RCV001246646 CA059672 rs758404546 |
69 | G>D | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_074314 RCV002281903 CA015856 RCV002477197 rs199473050 RCV000058481 RCV001842312 RCV001699193 |
70 | N>K | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs368357262 RCV002420719 RCV000638697 RCV001841836 CA059760 |
70 | N>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841355 RCV000477615 CA16611294 rs1060501140 |
71 | P>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1224878 RCV001842688 COSM1224879 RCV001319109 rs1228779956 RCV002491507 CA352158017 |
77 | G>R | Cardiac arrhythmia Brugada syndrome large_intestine Brugada syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1559379802 CA352157944 RCV000685443 |
80 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001843191 RCV001869402 rs747643709 RCV001842580 CA060513 RCV002454248 RCV002497311 CA060506 RCV000998028 |
82 | D>E | Brugada syndrome Brugada syndrome 1 Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473051 VAR_074315 RCV000058505 CA016221 |
84 | D>N | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000151808 rs727503411 |
86 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001869303 CA352157801 rs1575853007 RCV000853197 |
87 | Y>C | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003105817 RCV001842891 rs779961972 CA016327 RCV000182922 |
88 | S>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001841024 rs2062507927 |
92 | T>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765675330 CA060799 RCV002433986 RCV001841997 RCV000815591 |
92 | T>I | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000058528 rs199473052 CA016523 VAR_074316 |
93 | F>S | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074317 CA016537 RCV000058530 rs199473053 |
94 | I>S | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000617922 RCV001841463 RCV001557210 rs202114798 RCV002491006 RCV000608230 RCV000556544 CA060949 |
94 | I>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000987244 rs199473054 RCV000058531 RCV001842317 CA016556 RCV000182923 VAR_055160 RCV000455416 |
95 | V>I | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000638725 CA060971 rs199473054 |
95 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2062506660 RCV001242075 |
102 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016820 rs199473055 VAR_074699 RCV000058548 RCV001553202 |
104 | R>G | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000182924 CA016849 RCV000058551 rs199473554 VAR_074318 |
104 | R>Q | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473055 RCV000058549 RCV000617193 RCV002490655 VAR_074319 CA016827 RCV000434418 |
104 | R>W | Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA352157035 rs1331765859 RCV001054084 RCV001842601 RCV002481984 |
106 | S>G | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199473056 RCV000058560 CA016995 VAR_074320 |
109 | N>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2062505799 RCV001235931 |
110 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM218769 RCV000157475 rs730880202 COSM1159377 RCV000522494 RCV002321656 RCV001842499 RCV001850188 CA017010 |
110 | A>T | Cardiac arrhythmia Brugada syndrome pancreas Primary familial hypertrophic cardiomyopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA352156991 rs199473555 RCV000638745 |
113 | V>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058568 rs199473555 CA017107 |
113 | V>I | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351790 rs2062505297 |
114 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017168 RCV000058572 rs199473057 VAR_074700 |
115 | S>G | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001842759 RCV002451366 rs1203397027 CA352156978 RCV001369393 |
115 | S>N | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001307873 rs45533640 |
118 | H>Q | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001841094 rs2062505020 |
118 | H>Y | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758695743 RCV001310032 CA062052 |
119 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002456104 rs368058564 RCV000535816 CA062031 |
119 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1738921 VAR_074321 rs199473058 RCV000058583 RCV002288557 COSM1738923 CA017353 |
121 | R>Q | Brugada syndrome Brugada syndrome 1 haematopoietic_and_lymphoid_tissue BRGDA1; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000522231 RCV000622117 RCV000413145 rs199473556 CA017341 RCV000058582 VAR_074322 |
121 | R>W | Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA352156927 RCV001310031 rs765699394 |
123 | A>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001731897 RCV002477592 RCV001841867 CA062209 RCV000698669 rs765699394 |
123 | A>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002345370 rs199473059 RCV001375549 RCV001555910 RCV001842348 RCV000058596 CA017478 RCV000869701 VAR_068326 RCV000987243 |
125 | V>L | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001843238 CA352156920 rs199473059 |
125 | V>M | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_026343 RCV000058601 CA017507 rs185492581 |
126 | K>E | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs2062503421 RCV001042354 |
128 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558909 RCV001842771 RCV002356834 CA72949047 rs879162705 |
134 | N>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs772956530 RCV001843068 |
135 | M>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074323 RCV000058640 rs199473557 CA017871 |
136 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000148866 CA017919 RCV001854223 rs199473060 VAR_055161 |
138 | M>I | Brugada syndrome Atrial fibrillation ATFB10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV001065151 rs730880203 |
138 | M>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000157476 CA017907 rs730880203 |
138 | M>T | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000182927 RCV001852340 CA017991 rs794728845 |
141 | I>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000678955 CA062954 rs772186966 RCV000544075 |
141 | I>N | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746026950 CA063020 RCV001059894 |
143 | T>A | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs587781159 RCV000735252 CA352154690 |
145 | C>* | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1559371879 RCV000689388 CA352154698 |
145 | C>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001841008 rs1327199880 CA352154677 |
146 | V>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA018183 RCV001705713 rs199473061 RCV000987241 RCV000058666 VAR_074324 RCV001842362 RCV002326781 |
146 | V>M | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2062340321 RCV001843228 |
151 | H>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229753 rs1298498462 RCV003224533 CA352154584 |
153 | P>L | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA352154551 RCV000521288 rs1553605932 |
156 | W>* | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2062339211 RCV001054435 |
159 | Y>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA063590 rs767116750 RCV001841839 RCV001146505 RCV001146501 RCV001146503 RCV001146504 RCV002334098 RCV000713143 RCV001146506 RCV000638710 RCV001146502 |
159 | Y>C | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001699194 RCV000058710 RCV002336213 rs199473062 CA018588 VAR_026344 RCV000987240 |
161 | E>K | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 BRGDA1 and PFHB1A [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA dbSNP gnomAD |
|
CA018595 rs199473062 RCV000058711 VAR_074325 |
161 | E>Q | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001842786 CA064027 rs201232332 RCV003163408 RCV001447788 RCV001572069 |
166 | A>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2062305946 RCV001843243 |
169 | T>N | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476600 RCV001348052 CA064110 rs371651284 RCV002224074 |
170 | F>I | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001205901 rs2062305727 |
171 | E>G | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019045 VAR_074326 RCV000058757 rs199473063 |
175 | K>N | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058761 CA019070 rs199473064 |
176 | I>M | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074327 RCV000058772 CA019140 rs199473065 |
178 | A>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA352153836 RCV000825605 RCV001570662 RCV001194085 RCV001842008 rs1480085793 |
179 | R>* | Brugada syndrome (shorter-than-normal QT interval) Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000690422 RCV003163146 rs760585484 CA352153835 |
179 | R>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001563249 RCV000505573 rs760585484 CA064357 RCV000460575 |
179 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473066 VAR_074328 CA019232 RCV000058781 |
182 | C>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000987239 RCV000058790 rs192113333 COSM1224881 COSM1224882 RCV002054907 RCV001842387 CA019331 |
185 | A>T | Cardiac arrhythmia Brugada syndrome large_intestine Congenital long QT syndrome Brugada syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001842388 CA019348 RCV000058792 rs199473067 VAR_074329 RCV002477204 |
185 | A>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000208056 CA351742 rs869025517 RCV000457388 |
187 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473558 VAR_026345 RCV000058794 CA019380 |
187 | T>I | Brugada syndrome BRGDA1; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs199473558 CA064561 RCV003139965 RCV000638738 |
187 | T>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002054908 RCV001842390 RCV000157477 CA019420 RCV000058798 RCV000766778 rs199473068 |
190 | R>G | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348239 rs199473069 |
190 | R>P | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001838980 CA019436 rs199473069 RCV000182933 RCV000987238 RCV002271395 RCV002490661 RCV001842391 RCV000824478 RCV000058799 |
190 | R>Q | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001545009 RCV001258364 RCV002345853 rs199473068 RCV001196953 RCV001841992 RCV000813672 CA064632 |
190 | R>W | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Sick sinus syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056464 rs2062303387 |
193 | W>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553605677 RCV001868111 RCV000621010 CA352153608 |
194 | N>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348364 RCV002357198 rs2062303055 |
194 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352153531 RCV001771936 RCV000686943 rs1559370502 |
197 | D>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553605667 RCV001211962 |
197 | D>H | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000853441 RCV002516917 rs1553605667 CA019532 |
197 | D>Y | Brugada syndrome Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1391052004 RCV001308358 |
199 | S>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1469078045 RCV002352111 CA352153453 RCV000685580 |
202 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2062302350 RCV001344424 |
203 | M>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074330 rs199473559 CA019639 RCV000058828 |
204 | A>V | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002352223 RCV000707312 CA352151735 RCV002485778 rs1484635042 |
206 | T>S | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001063901 rs2062158779 |
208 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812536 rs199473070 VAR_055162 CA019675 RCV000114993 RCV000058830 |
212 | L>P | Brugada syndrome Congenital long QT syndrome Atrial standstill 1, digenic LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074331 RCV000058829 CA019670 rs199473070 |
212 | L>Q | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001149160 RCV001081940 RCV001149157 CA019682 RCV000248707 RCV001149161 RCV001149162 RCV001149158 RCV001149159 VAR_055163 rs41276525 RCV001841553 RCV000852966 RCV000058831 RCV000151805 RCV003224111 |
216 | S>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Ventricular tachycardia Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) rare variant found in patients with atrial fibrillation; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000498547 RCV001841403 rs762012668 RCV000638670 CA065472 RCV002367674 |
219 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10582196 RCV002365222 rs878855296 RCV001843007 RCV000226209 RCV001195310 RCV000494338 |
219 | R>H | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001146374 rs878855296 RCV001149156 RCV001146376 RCV001146375 RCV001146377 RCV001146373 |
219 | R>P | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019690 RCV000151804 RCV000678935 RCV000148857 RCV000258831 RCV001146372 RCV000009998 RCV000058832 RCV000251727 RCV000622951 RCV001841241 VAR_017670 RCV000586618 rs45620037 |
220 | T>I | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Sick sinus syndrome 1 Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1E AV junctional rhythm SCN5A-Related Disorders Sick sinus syndrome 1 (sss1) SSS1 and BRGDA1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002362939 RCV000709764 rs794728849 CA019700 RCV000539108 RCV002485217 RCV000182937 |
222 | R>* | Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000182941 VAR_074332 RCV000211852 rs45546039 RCV000032639 RCV000464847 RCV000763109 RCV000058833 RCV000678965 CA019704 |
222 | R>Q | Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 Primary dilated cardiomyopathy Dilated cardiomyopathy 1E BRGDA1 and LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_074333 CA019709 RCV000058834 rs199473560 |
223 | V>L | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473071 RCV000987237 RCV001842406 VAR_036661 RCV000984326 RCV000812561 CA019719 RCV001842407 RCV001531996 RCV000058836 |
225 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 Dilated cardiomyopathy 1E LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_055164 RCV001842405 CA019714 RCV000182942 RCV000148865 RCV000620248 RCV000469869 rs199473072 RCV002251959 RCV000058835 RCV002477205 RCV000521042 |
225 | R>W | Cardiac arrhythmia Conduction system disorder Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 PFHB1A, BRGDA1 and LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001305267 rs199473561 |
226 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019724 RCV000987236 RCV001146370 RCV001144463 VAR_026346 rs199473561 RCV001842408 RCV001146371 RCV000058837 RCV001144462 RCV000454727 RCV001705715 RCV001144461 |
226 | A>V | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) BRGDA1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000229800 RCV000182943 CA019728 RCV000223856 rs760011764 |
227 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001238445 rs2062156980 |
229 | T>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473073 RCV000058839 RCV001842409 CA019740 RCV000527599 |
230 | I>T | Conduction system disorder Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199473074 VAR_026347 RCV000058838 CA019734 |
230 | I>V | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000724673 RCV000987235 RCV000148856 RCV000058840 RCV000246365 CA019745 VAR_055165 RCV001842410 rs45471994 RCV000010010 |
232 | V>I | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) Brugada syndrome, lidocaine-induced BRGDA1; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001206569 rs2062156506 |
235 | G>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058841 rs199473075 CA019755 |
239 | I>V | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162462 CA019765 rs199473076 RCV001842411 RCV000058842 VAR_074334 RCV000182946 RCV000542318 |
240 | V>M | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome BRGDA1 and LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000519896 CA352151007 RCV001841414 rs1311277481 |
242 | A>T | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs869025518 RCV000208365 CA351979 |
242 | A>V | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058843 rs199473077 VAR_068327 CA019775 |
245 | Q>K | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA019780 RCV000058844 rs199473078 RCV001854227 VAR_074701 RCV000489533 |
247 | V>L | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000693298 CA352150913 rs1559778838 |
250 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808891 CA352150889 rs1575813634 |
252 | D>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1184094156 RCV002283508 RCV000690041 CA352150816 |
258 | V>A | Brugada syndrome Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777689378 RCV001841840 CA065668 RCV000638712 |
262 | S>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA073231 RCV000208042 rs777689378 |
262 | S>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000279922 RCV000389273 RCV000334721 RCV000349715 RCV000319650 RCV000294829 RCV001842893 RCV001094935 rs752824646 RCV002478620 RCV000182947 CA019796 RCV000374434 |
263 | V>I | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs372145184 CA72941731 RCV001346953 |
267 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs750990576 RCV001237661 |
268 | G>C | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239771 CA065711 RCV001843254 rs750990576 |
268 | G>S | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_074335 CA019808 rs199473079 RCV000058845 |
270 | Q>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000766781 rs794728852 CA019822 RCV000199539 RCV000182948 |
274 | G>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199473080 CA019829 RCV000058847 VAR_074702 |
275 | N>K | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553705529 RCV000530816 CA352150619 |
276 | L>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473081 VAR_074336 RCV000058848 CA019833 |
276 | L>Q | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA019839 rs199473562 RCV000058849 VAR_074337 |
278 | H>D | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs776363986 RCV002559019 CA065741 RCV001843122 |
281 | V>M | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000240636 rs199473082 VAR_074338 CA019844 RCV000182949 RCV000781844 RCV000058850 |
282 | R>C | Brugada syndrome Variant assessed as Somatic; impact. Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs199473082 CA352150552 RCV000638706 |
282 | R>G | Brugada syndrome Brugada syndrome 1 (brgda1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199473083 CA019849 RCV000144028 RCV000058851 RCV002444522 RCV001552667 VAR_026348 |
282 | R>H | Brugada syndrome Brugada syndrome 1 Variant assessed as Somatic; 4.639e-05 impact. BRGDA1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001314646 rs775391317 |
285 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842670 rs61746118 |
286 | A>P | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61746118 RCV000154846 CA019856 VAR_074339 RCV001842413 RCV000058852 RCV001079492 RCV000618432 |
286 | A>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA019862 RCV001842883 rs778943853 RCV000182904 |
286 | A>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791871 COSM1485153 COSM446446 rs199473084 RCV000786217 VAR_074703 RCV001842414 RCV000148864 CA019867 RCV000058853 |
289 | G>S | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Long QT syndrome breast LQT3; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000182950 CA019880 rs36210420 RCV000227263 RCV000058854 RCV001842415 |
291 | N>H | Cardiac arrhythmia Brugada syndrome Torsades de pointes [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199473085 RCV000987234 RCV001842416 RCV002498348 CA019893 RCV000058856 |
292 | G>S | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000678952 RCV000998027 RCV000455194 RCV001842417 VAR_026349 RCV000765741 RCV000058857 rs199473086 CA019903 |
294 | V>M | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000812828 RCV000522530 CA065839 rs762283891 |
295 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000529404 RCV001842894 rs794728853 RCV000182952 CA019914 |
297 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002507225 COSM3660529 CA065869 COSM3660528 rs759383134 RCV000701740 |
298 | G>D | Brugada syndrome liver Brugada syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV003137510 RCV001149038 VAR_017671 RCV002482852 RCV000151803 RCV000009985 rs137854608 RCV000415287 RCV000791684 RCV001149036 RCV001149035 RCV001841235 CA019920 RCV001149039 RCV001149037 RCV000058858 |
298 | G>S | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Primary dilated cardiomyopathy Dilated cardiomyopathy 1E Atrioventricular block PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001842418 RCV000417399 RCV001082816 RCV000058859 rs199473087 CA019926 VAR_074341 RCV000243540 |
299 | L>M | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1575813063 RCV001841051 |
300 | V>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058860 RCV001842419 CA019931 VAR_074342 rs199473088 |
300 | V>I | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000441820 CA16604567 rs1057524769 RCV001851099 |
301 | W>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16611395 RCV002374759 RCV000476810 RCV000657857 rs1060501136 |
302 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs748956841 RCV001234280 |
306 | L>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA065896 rs748956841 RCV001552115 RCV001063819 |
306 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA019940 RCV000183169 COSM1593660 rs794728925 RCV000196627 COSM1044301 |
314 | Y>H | Brugada syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000058862 CA019944 RCV000766782 rs199473564 RCV000620872 RCV000182953 VAR_074343 |
315 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA019950 rs199473089 RCV000058863 |
317 | K>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473090 CA352150142 RCV001055286 RCV002379565 |
319 | G>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001842420 VAR_026350 RCV000058864 CA019955 rs199473090 RCV001549682 |
319 | G>S | Cardiac arrhythmia Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs199473091 VAR_074344 RCV000058865 CA019959 RCV003151744 |
320 | T>N | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001841062 rs2062047890 RCV001751342 |
321 | S>F | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019964 VAR_055166 rs199473092 RCV000058866 |
325 | L>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2062047589 RCV001247806 |
326 | C>Y | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781073875 CA72941067 RCV000816402 |
330 | S>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA066022 RCV000638701 RCV001841838 rs749769938 |
332 | A>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473093 CA014136 VAR_055167 RCV000058379 |
336 | P>L | Brugada syndrome Variant assessed as Somatic; impact. BRGDA1; severe reduction of sodium currents [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs2062023205 RCV001323735 |
339 | Y>H | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs191009474 RCV000536656 RCV002504968 RCV001841767 RCV002362694 RCV000991046 CA014177 RCV000058382 RCV001723640 |
340 | R>Q | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000058381 RCV000824416 RCV001664239 VAR_074704 CA014168 rs199473094 |
340 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA057004 rs780735882 RCV002506002 RCV002392940 RCV002524652 RCV000413030 RCV001841278 |
346 | E>G | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA056998 RCV001224712 rs368552426 RCV000208254 RCV002390560 RCV001842960 RCV001537281 |
346 | E>K | Cardiac arrhythmia Brugada syndrome Primary dilated cardiomyopathy Variant assessed as Somatic; 0.0001405 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000678960 RCV002223194 CA057036 RCV000213192 rs779687673 RCV001219733 |
349 | D>N | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352149693 RCV001842982 CA10576618 rs587781160 RCV000217525 |
350 | H>Q | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_074345 RCV000058385 rs199473095 CA014239 |
351 | G>D | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001150440 rs201276017 RCV002393095 RCV000458589 RCV001150442 RCV001150441 RCV001150438 RCV001841353 CA057059 RCV001150439 RCV002480369 RCV001150443 |
351 | G>S | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA014246 VAR_026351 rs199473095 RCV000058386 |
351 | G>V | Brugada syndrome BRGDA1; 7-fold current reduction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473096 CA014257 RCV000058387 VAR_055168 |
353 | T>I | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473096 RCV001345759 |
353 | T>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002408568 VAR_026352 RCV000588086 RCV000058388 RCV000182956 rs199473565 RCV000678958 CA014277 |
356 | D>N | Brugada syndrome (shorter-than-normal QT interval) Brugada syndrome Brugada syndrome 1 BRGDA1; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA352149609 RCV000790455 rs199473565 |
356 | D>Y | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA352149511 rs1553704925 RCV000509142 |
359 | A>D | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014295 RCV000182945 RCV002516918 rs794728851 |
360 | W>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1134566 RCV000466350 RCV001824120 COSM460805 rs199473097 RCV000058389 VAR_026353 CA014305 RCV002444519 RCV000763108 RCV000182957 |
367 | R>C | cervix Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Brugada syndrome 1 SCN5A-Related Disorders BRGDA1 and LQT3; express no current [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA014314 rs28937318 VAR_017672 COSM1422840 RCV001841237 RCV002426498 RCV000058390 COSM1422839 RCV000009988 |
367 | R>H | Cardiac arrhythmia Brugada syndrome large_intestine Variant assessed as Somatic; impact. Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1; express no current [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV000058391 VAR_074346 rs28937318 CA014324 |
367 | R>L | Brugada syndrome Brugada syndrome 1 (brgda1) BRGDA1; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs2062020547 RCV001047281 |
368 | L>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014336 rs199473098 VAR_026354 RCV000058392 |
369 | M>K | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM1224872 RCV000058393 RCV000678842 CA014345 RCV003162453 RCV001239915 rs199473099 RCV001841770 RCV003224130 VAR_074705 COSM1224873 RCV001256850 |
370 | T>M | Cardiac arrhythmia Brugada syndrome large_intestine Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 Dilated cardiomyopathy 1A LQT3; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs2062020403 RCV001299785 |
371 | Q>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352149324 rs1575807495 RCV000814287 |
373 | C>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1202210794 CA352149332 RCV001069176 |
373 | C>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553704898 RCV000557277 CA352149313 |
374 | W>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074347 CA014359 RCV000058394 rs199473566 |
374 | W>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000991042 RCV000638664 RCV001000677 RCV000058395 rs199473100 CA014377 VAR_074348 |
376 | R>C | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000617435 CA014389 RCV000182960 RCV001842271 RCV000058396 VAR_055169 rs199473101 RCV002498339 |
376 | R>H | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553704878 RCV000794564 CA352149248 |
379 | Q>* | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2062010248 RCV001057753 |
383 | R>K | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048119 rs771588294 |
385 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348614 CA057314 RCV001843129 RCV001217861 rs771588294 |
385 | A>T | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 4.649e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_074349 CA014436 rs199473567 RCV000058398 |
386 | G>E | Brugada syndrome Variant assessed as Somatic; impact. BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000058397 CA014429 VAR_074350 rs199473102 |
386 | G>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs745481817 CA057319 RCV001843120 |
388 | I>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2062009591 RCV001841058 |
390 | M>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2062009652 RCV001842622 RCV001322110 |
390 | M>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_026355 | 393 | F>del | BRGDA1 [UniProt] | Yes | UniProt |
|
RCV001841171 rs2062009371 |
394 | M>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2062009427 RCV001843203 |
394 | M>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058400 rs199473103 CA014464 VAR_074351 |
396 | V>A | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058399 CA014455 VAR_074352 RCV001842272 rs199473104 |
396 | V>L | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001731354 RCV001063155 VAR_074706 RCV000058401 rs199473105 CA014474 RCV000498420 |
397 | I>T | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473106 CA014496 RCV000058402 |
400 | G>A | Ventricular fibrillation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2062008854 RCV001316486 |
400 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2062008854 RCV001248801 |
400 | G>W | Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014506 VAR_068328 rs199473107 RCV000058403 |
404 | L>Q | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001307680 rs2062008404 |
405 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001256848 VAR_055170 RCV000182963 CA014532 CA014540 RCV000058406 RCV000058405 rs199473108 |
406 | N>K | Long QT syndrome 1 Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD UniProt |
|
RCV000058404 VAR_055171 CA014519 rs199473568 |
406 | N>S | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058407 rs199473109 CA014550 VAR_074707 |
409 | L>V | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001205280 rs2062008042 |
410 | A>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182964 RCV000234790 RCV000621361 VAR_068329 RCV000197436 RCV000058408 RCV000157478 rs72549410 CA014560 |
411 | V>M | Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long QT syndrome Long qt syndrome 3 (lqt3) LQT3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074708 CA014593 rs199473569 RCV000058410 |
413 | A>E | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002483107 CA014582 RCV001842273 rs199473110 VAR_074709 RCV000058409 RCV000697401 RCV001557235 |
413 | A>T | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000817381 CA352148705 rs548705770 |
415 | A>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs372395294 RCV000182965 RCV000470340 CA014608 RCV001842895 |
416 | Y>C | Cardiac arrhythmia Familial isolated arrhythmogenic right ventricular dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs869025519 RCV000208410 CA352012 |
418 | E>* | Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001241770 rs1057518916 |
419 | Q>E | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318830 RCV000436121 CA16604921 rs1057520358 |
419 | Q>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267599794 RCV002447012 RCV001843274 CA057406 RCV002559098 |
424 | I>M | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM187303 RCV001842896 RCV000792170 CA014623 RCV000182966 rs761117662 |
425 | A>T | Cardiac arrhythmia Brugada syndrome large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001218485 rs2062006484 |
427 | T>N | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_055172 RCV000817255 RCV000182967 CA014651 RCV002371781 rs199473111 RCV000148855 RCV001841512 RCV000022950 RCV000765740 |
428 | E>K | Cardiac arrhythmia Brugada syndrome Atrial fibrillation Brugada syndrome 1 Atrial fibrillation, familial, 10 (atfb10) Atrial fibrillation, familial, 10 ATFB10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs761375502 VAR_074710 |
429 | E>missing | LQT3; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
CA352148519 rs367807565 RCV000638726 |
429 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1215708111 RCV001841128 |
429 | E>Q | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761375502 VAR_074710 |
429 | E>del | LQT3; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
CA057469 RCV002379527 RCV003156304 rs374866214 RCV001842594 RCV001046251 COSM1422837 COSM1422836 |
433 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002384100 COSM3427560 RCV000549674 COSM3427559 RCV000622382 RCV001841452 rs879035421 RCV001731758 CA72940330 |
433 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs41311061 CA72940306 RCV002379489 RCV001037808 |
438 | M>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs369440094 CA72940309 RCV001842624 |
438 | M>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014686 RCV000058413 rs199473570 VAR_074353 |
439 | E>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002379680 CA352148352 rs1293526829 RCV002558826 RCV001842656 |
442 | K>E | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000418451 RCV002381260 CA014695 RCV000991041 RCV000058414 VAR_055173 RCV000458775 rs199473112 RCV000022948 RCV002504819 RCV001841253 |
445 | H>D | Cardiac arrhythmia Brugada syndrome Atrial fibrillation Brugada syndrome 1 Atrial fibrillation, familial, 10 (atfb10) Atrial fibrillation, familial, 10 ATFB10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001865395 COSM3660523 rs368045716 CA057543 CA352148311 RCV000419098 COSM3660522 |
445 | H>Q | Brugada syndrome liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352148315 rs199473112 RCV000702216 |
445 | H>Y | Brugada syndrome Atrial fibrillation, familial, 10 (atfb10) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001144228 RCV001842275 RCV000617704 RCV001144227 CA014706 rs199473339 RCV001144226 RCV000987232 RCV000154845 RCV000148863 RCV000638760 RCV001144225 |
446 | E>K | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Primary dilated cardiomyopathy Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001843236 rs199473339 |
446 | E>Q | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332809 RCV000525819 RCV002381373 RCV000058416 RCV000155813 RCV003224131 VAR_074354 RCV001842276 rs199473113 CA014726 |
447 | A>G | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA014738 VAR_074355 rs199473571 RCV001842277 RCV000462539 RCV000058417 |
449 | T>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001842897 RCV000182969 CA014759 RCV000704432 rs794728855 |
452 | G>D | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000992910 CA352148011 rs794728855 RCV001056169 |
452 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA057707 rs760016062 RCV000555554 RCV002384102 RCV001841454 |
456 | V>M | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000837954 CA057715 RCV000527137 RCV002384103 RCV000987231 RCV001841455 rs752130196 |
458 | R>C | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002516919 RCV000182970 CA014780 rs373692157 RCV001842898 |
458 | R>H | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001253995 RCV000253238 RCV001253992 RCV000058418 rs41313697 RCV000222830 RCV000171822 RCV001253994 VAR_055174 RCV001842278 RCV001253993 RCV002490651 RCV001253991 RCV001081119 RCV001148789 CA014789 |
461 | L>V | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Sudden cardiac death Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000058420 RCV000724465 CA014808 RCV001842280 rs199473114 RCV002483108 RCV001216991 VAR_074711 |
462 | E>A | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002288556 RCV000539748 RCV001842279 RCV002504969 VAR_068330 RCV000058419 RCV000148862 rs199473572 CA014798 |
462 | E>K | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001840967 rs2061984984 |
463 | M>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA057755 rs761628195 RCV001295468 RCV002497659 RCV001841088 |
463 | M>R | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001842738 rs2061984708 |
465 | P>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852342 RCV002286711 RCV001842899 RCV002390468 rs776541865 RCV000182972 CA014817 |
466 | L>F | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000058421 rs199473115 RCV002482899 RCV000022949 RCV001305266 CA014836 VAR_055175 |
470 | N>K | Brugada syndrome Atrial fibrillation Brugada syndrome 1 Atrial fibrillation, familial, 10 (atfb10) Atrial fibrillation, familial, 10 ATFB10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1419170686 CA352147881 RCV001344671 |
474 | R>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA014845 RCV000058422 VAR_074356 RCV000638713 RCV002483109 RCV001842281 RCV002390208 rs199473116 |
475 | R>S | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001842639 rs2061983645 |
475 | R>T | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794728906 RCV000627161 RCV000183145 |
476 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798419 rs142804667 CA057874 RCV002388459 |
481 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001148784 RCV000249137 RCV001148788 rs144511230 RCV001148786 RCV001841588 RCV000238622 RCV000471899 VAR_055176 COSM86342 RCV001148787 CA014875 RCV000058424 RCV001148785 RCV000203074 RCV001148783 RCV000041599 |
481 | R>W | Cardiac arrhythmia ovary Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16621993 RCV000812462 rs1212816065 |
482 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002482030 rs1274970281 CA352147801 RCV001058582 |
486 | T>S | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000811089 CA352147770 rs1553704434 |
491 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061981979 RCV001841120 |
494 | L>F | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611274 rs1060501146 RCV000464339 |
495 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001842696 rs2061981576 |
497 | S>P | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501148 CA16611393 RCV002480370 RCV000472332 |
500 | E>K | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473117 CA014894 RCV000058425 VAR_074357 |
501 | D>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001053398 rs763910948 CA057968 |
505 | A>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA057978 RCV000998026 RCV001842579 rs760531609 RCV002481791 RCV001242205 |
506 | M>K | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000144029 RCV000058426 RCV000010000 VAR_036662 RCV000588264 rs199473118 CA014930 RCV002498340 RCV000234724 |
512 | T>I | Conduction system disorder Progressive familial heart block, type 1A Brugada syndrome Brugada syndrome 1 PFHB1A; voltage-dependent activation and inactivation of the I-512 channel is shifted negatively by 8 to 9 mV and had enhanced slow activation and slower recovery from inactivation commpared to the wild-type channel; the double mutant R-558/I-512 channel shows that R-558 eliminates the negative shift induced by I-512 but only partially restores the kinetic abnormalities [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002492814 RCV001842900 RCV000182976 CA014941 RCV000814854 rs145733679 RCV000621309 |
513 | R>C | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001841589 CA014950 rs397517951 RCV000041600 RCV000687410 |
513 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841833 RCV000638674 CA352147537 rs397517951 RCV002404786 |
513 | R>P | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA014960 VAR_017673 RCV000009984 rs137854606 RCV000058427 |
514 | G>C | Conduction system disorder Cardiac conduction defect, nonprogressive BRGDA1 and PFHB1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000814097 CA72939343 rs930772073 |
520 | M>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA352147462 rs930772073 RCV001045079 |
520 | M>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001262496 RCV001242844 CA058151 rs769799503 RCV002402771 |
520 | M>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201840288 RCV001299473 CA058165 |
521 | K>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA058181 rs768922716 RCV001301471 |
522 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001842783 rs2061966279 RCV001875938 |
522 | P>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196670 RCV000464270 RCV000058429 RCV000239767 CA014976 RCV000656174 rs199473119 RCV001842283 |
523 | R>C | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000987230 RCV000242695 VAR_036663 RCV002496657 RCV000316117 RCV001841590 RCV000041601 RCV000058430 CA014995 RCV001144118 RCV000238899 RCV001144119 RCV001144120 RCV001080731 rs41313691 RCV001146003 RCV000202694 |
524 | S>Y | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001842708 rs1474161913 RCV001875864 CA352147411 |
525 | S>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs575883763 RCV001841363 RCV000476821 RCV000522268 CA058232 |
526 | R>C | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000713134 VAR_074358 CA015002 RCV001842284 RCV000058431 rs45627438 RCV000853128 RCV000987229 |
526 | R>H | Cardiac arrhythmia Brugada syndrome Primary familial hypertrophic cardiomyopathy Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763550164 COSM4152434 RCV000459544 RCV000589940 RCV001841361 COSM4152435 RCV002402244 CA058255 |
527 | G>R | kidney Cardiac arrhythmia Brugada syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000463880 rs1060501134 CA16611287 |
528 | S>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473120 CA015032 RCV001351684 RCV000058432 RCV001842285 VAR_074712 RCV000852550 |
530 | F>V | Cardiac arrhythmia Brugada syndrome Cardiomyopathy Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002483110 VAR_055177 rs199473573 RCV000058434 RCV000490338 CA015051 RCV000182979 RCV001842287 |
532 | F>C | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 SUDDEN INFANT DEATH SYNDROME SIDS and BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001841866 RCV000697228 RCV002485696 COSM1044295 COSM1593664 rs775576991 CA058356 RCV002397426 |
533 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium Brugada syndrome 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000365101 RCV001842500 RCV002478471 RCV000272892 RCV000619790 RCV000269424 RCV000277355 RCV000157479 RCV003149961 RCV000182980 RCV000388106 rs146848219 CA015061 RCV000308105 |
533 | R>H | Cardiac arrhythmia Brugada syndrome Progressive familial heart block Cardiomyopathy Congenital long QT syndrome Long QT syndrome Paroxysmal familial ventricular fibrillation Brugada syndrome 1 Dilated Cardiomyopathy, Dominant Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002558820 CA058346 rs775576991 RCV001842653 |
533 | R>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000610147 RCV000845417 RCV001841781 CA352147237 RCV001008643 RCV000617180 rs1417036453 |
535 | R>* | Cardiac arrhythmia Brugada syndrome Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000638649 COSM1224875 VAR_074713 RCV000058435 RCV000677695 RCV001556314 RCV000987228 RCV001293110 CA015071 COSM1224876 rs199473121 RCV001842288 RCV001193949 |
535 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 large_intestine Congenital long QT syndrome Primary dilated cardiomyopathy Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352147224 rs1475895120 RCV002493414 RCV001841908 |
536 | D>H | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553704183 RCV001195957 RCV001841810 |
538 | G>missing | Cardiac arrhythmia Sick sinus syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402531 rs779486899 RCV001842691 CA058388 |
538 | G>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352147172 RCV002486215 RCV001871765 rs779486899 |
538 | G>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000058436 CA015078 rs199473122 VAR_074359 |
543 | F>L | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs201641342 RCV001841002 |
551 | A>G | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015086 RCV000058437 rs199473574 |
551 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001842513 rs201641342 RCV000987227 CA015094 RCV000171573 RCV002485090 |
551 | A>V | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA015113 CA058435 RCV000058438 rs3918389 VAR_026356 RCV001840969 |
552 | G>R | Brugada syndrome Cardiac arrhythmia BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV001255000 RCV002399665 CA015121 RCV000182981 RCV000464476 rs3918389 RCV001842901 |
552 | G>W | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2061963208 RCV001351903 |
553 | E>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987226 rs199473123 RCV001842289 RCV000058439 RCV001729375 CA015137 |
555 | E>K | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002402544 rs1026788049 RCV001843267 CA352146809 RCV001205861 |
557 | H>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA058476 RCV002399771 RCV000208085 rs762858787 |
557 | H>Q | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA058468 rs766204238 RCV000692488 |
557 | H>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001841593 RCV000010000 RCV000251327 CA015145 VAR_008955 RCV000405409 RCV000987225 RCV000335618 RCV002496658 RCV000058440 RCV000406777 RCV003125879 RCV000339196 RCV000041604 rs1805124 RCV000361696 RCV000300603 RCV000304709 |
558 | H>R | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Primary dilated cardiomyopathy Sick sinus syndrome 1 Dilated cardiomyopathy 1E channels properties are similar to wild-type; the double mutant R-558/I-512 channel shows that R-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities; can modulate the gating defects caused by Ala-2006 and other mutations [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA015154 RCV000058441 rs199473575 RCV000638718 RCV001842290 |
559 | T>I | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841009 rs2061961925 |
564 | P>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694683 CA352146649 rs1559771615 |
566 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015173 RCV000058442 RCV000619630 RCV001329631 rs199473124 RCV003137597 VAR_026357 RCV001842291 RCV001797620 RCV000845516 |
567 | L>Q | Cardiac arrhythmia Brugada syndrome Long QT syndrome Atrial fibrillation, familial, 10 BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001842598 rs45600438 RCV002400280 RCV001049841 CA058533 |
568 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001842292 VAR_074360 RCV002490652 RCV000476617 rs199473125 RCV000058443 CA015185 |
568 | R>H | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473576 RCV000656205 RCV001842935 RCV002408802 RCV000183172 CA015193 RCV002492820 RCV002516923 |
569 | R>G | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048982 CA015215 rs769292594 RCV001201219 RCV001842902 RCV002399666 RCV002485218 RCV000182983 |
569 | R>Q | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473576 RCV000058444 CA015203 VAR_074714 RCV001296593 RCV002504970 RCV002223784 RCV001842293 |
569 | R>W | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000819592 RCV000058445 VAR_074715 rs199473126 CA015234 RCV001842294 RCV000417257 |
571 | S>I | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000360867 RCV001094811 RCV000151795 RCV000157480 RCV000438831 RCV000058447 CA015266 RCV000157481 RCV000143951 VAR_055178 RCV000244195 RCV000264595 RCV000230669 rs36210423 RCV000326049 RCV000268589 RCV000852965 RCV002504971 RCV001842295 |
572 | A>D | Cardiac arrhythmia Progressive familial heart block, type 1A Arrhythmogenic right ventricular cardiomyopathy Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Left ventricular noncompaction cardiomyopathy LQT3 and ATFB10; likely benign variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs730880211 RCV000726236 RCV000157498 RCV002265631 RCV000618061 CA015243 RCV001842505 RCV001080833 |
572 | A>F | Cardiac arrhythmia Brugada syndrome Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001225950 rs36210423 CA72939170 |
572 | A>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000456073 RCV000058446 RCV000987224 RCV000148854 CA015256 VAR_074716 rs184442491 |
572 | A>S | Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000911061 CA015275 VAR_074717 RCV000058448 RCV000455370 rs36210423 RCV000987223 |
572 | A>V | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_074718 rs199473127 CA015285 RCV000058449 |
573 | Q>E | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001841109 rs1553704084 |
575 | Q>E | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061960399 RCV001841090 |
576 | P>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843277 RCV002402545 RCV002559103 rs2061960299 RCV001760137 |
577 | S>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352146423 RCV001345699 rs1171364024 RCV001843152 |
578 | P>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_074361 CA015293 rs199473128 RCV000058450 RCV000454856 RCV001842296 RCV000459958 RCV000987222 |
579 | G>R | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA058722 rs763240431 RCV002411584 RCV001064331 RCV001842606 |
584 | G>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000695741 rs794728910 RCV000183150 |
585 | H>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015347 rs199473129 RCV000058451 RCV001842297 RCV001699192 |
586 | A>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000987221 rs397517953 RCV000462883 RCV000584796 RCV000041606 RCV001841595 RCV001719780 RCV002399399 |
586 | A>missing | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Sudden unexplained death [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_055179 | 586 | A>del | LQT3; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA2319561 RCV001841984 rs748732150 RCV000806652 |
588 | H>N | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA352146281 RCV001842595 rs1559771280 RCV001048566 |
588 | H>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463581 CA16611286 rs1060501143 RCV001841356 |
590 | K>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001876102 RCV000058452 CA015355 RCV001843165 CA058791 rs199473130 VAR_074362 |
592 | N>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV001843231 CA352146212 rs1359868988 RCV002559882 |
592 | N>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2061958575 RCV001221543 |
595 | V>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000547086 CA352146132 rs1553704015 |
598 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352146113 RCV001040351 rs1306945189 |
600 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_074364 rs199473132 CA015370 RCV001854217 RCV000058454 |
601 | V>A | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001326913 rs1435264739 |
605 | G>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000618902 RCV001351634 CA352146060 RCV000781837 rs1553704001 |
605 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219853 CA352146041 rs1417742758 |
606 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757119370 RCV001064762 RCV000182984 CA015379 |
607 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001842903 RCV002478621 CA015393 RCV000559640 rs757119370 RCV000252061 RCV001729437 RCV000182985 |
607 | G>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001841860 RCV000691936 rs755114387 CA058871 RCV002462028 |
608 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001841885 rs751774111 CA058894 |
610 | E>K | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001841040 rs2061957185 |
612 | T>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000157482 CA015410 rs730880204 |
614 | P>S | Catecholaminergic polymorphic ventricular tachycardia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000234978 RCV000622256 RCV000234973 RCV000148853 VAR_026358 RCV000766786 CA015428 RCV000168217 RCV001842298 rs12720452 RCV000151792 RCV000058455 RCV000521151 |
615 | G>E | Cardiac arrhythmia Long QT syndrome, drug-associated Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome LQT3 and BRGDA1; drug-induced LQT syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs974947142 RCV001338069 CA72939070 RCV001256852 |
617 | H>L | Brugada syndrome Variant assessed as Somatic; impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000618998 RCV000058456 RCV000987220 VAR_047360 CA015435 rs45488304 RCV000148843 RCV000154842 RCV001842299 RCV001085259 |
618 | L>F | Cardiac arrhythmia Brugada syndrome Long QT syndrome, drug-associated Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001842300 RCV000779409 RCV002477195 RCV000413033 RCV000148861 RCV000058457 VAR_015682 rs199473133 CA015443 |
619 | L>F | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Long QT syndrome Brugada syndrome 1 Long qt syndrome 3 (lqt3) LQT3 and BRGDA1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001842301 CA015449 rs199473577 RCV001588892 VAR_074365 RCV000058458 |
620 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 5.682e-05 impact. BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA058963 RCV002484054 rs746504626 RCV001301718 RCV001841157 |
620 | R>H | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001841075 rs746504626 CA72939056 RCV002411711 |
620 | R>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10616342 RCV000312527 RCV000369639 RCV000262047 RCV000354418 RCV000277415 rs886058463 RCV000319498 RCV000315917 |
624 | L>I | Brugada syndrome Progressive familial heart block Congenital long QT syndrome Long QT syndrome Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035730 rs771678113 CA058996 |
625 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001842525 RCV000171702 CA015460 RCV001366713 rs201552126 |
625 | E>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000223692 CA015473 RCV000534878 RCV002485220 RCV001842936 RCV000766787 RCV000621604 rs778522112 |
627 | P>L | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000182987 RCV000232011 CA015482 RCV000621663 rs777061524 RCV001842904 RCV002478622 |
630 | T>M | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001842661 rs2061880786 RCV001370817 |
631 | T>I | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842302 rs199473134 CA015525 VAR_074366 RCV000058459 RCV002477196 |
632 | T>M | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001842586 CA059220 RCV002409363 RCV001585934 rs568517614 RCV001036011 |
634 | S>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000058460 rs199473135 RCV001056170 VAR_068331 CA015533 |
637 | P>L | Brugada syndrome Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_074367 RCV000796896 CA015542 rs199473578 RCV000058461 |
638 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000058462 CA015554 VAR_036664 RCV001248440 RCV000171572 rs199473136 CA015563 RCV000058463 RCV001842303 |
639 | G>R | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Long QT syndrome LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD NCI-TCGA |
|
rs199473137 VAR_074368 CA015572 RCV000058464 |
640 | P>A | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1260738360 CA352145158 RCV001842719 |
640 | P>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16617953 rs1064795085 RCV001390177 RCV000482074 |
641 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727505158 RCV000183151 RCV000156628 RCV000853392 RCV001254734 |
646 | Q>missing | Brugada syndrome Brugada syndrome 1 Sinus node disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015604 RCV000058465 RCV001842304 RCV000465221 RCV000987219 rs185638763 VAR_074369 |
647 | A>D | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs185638763 RCV000171701 CA015614 |
647 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000678931 RCV000417360 RCV001841596 rs45609733 RCV000058466 RCV002477133 CA015622 COSM3780895 RCV000560041 RCV000620269 VAR_068332 RCV000041607 COSM3780893 RCV000225740 RCV001253643 |
648 | P>L | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 pancreas Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 LQT3 and BRGDA1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770613866 CA72932986 RCV001320402 |
649 | C>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001347438 rs770613866 CA059318 |
649 | C>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352145106 RCV002483992 RCV001876061 RCV001843127 rs1380959630 RCV002411688 |
649 | C>Y | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001302727 rs2061878571 |
650 | V>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467317 RCV003165397 CA015631 rs794728927 COSM164215 RCV002223191 |
651 | D>H | Brugada syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV002491515 CA059341 RCV002282470 RCV001842756 rs762737339 RCV001875916 |
652 | G>D | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs762737339 RCV001349200 |
652 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1537921 COSM1537922 RCV000058467 rs199473138 CA015639 VAR_074719 RCV002513766 RCV003137598 |
654 | E>K | lung Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
CA352145069 rs199473579 RCV001248787 |
655 | E>* | Brugada syndrome 1 Atrial fibrillation, familial, 10 (atfb10) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002482900 RCV001062666 RCV000485732 RCV000058468 CA015647 VAR_055180 RCV000022951 rs199473579 |
655 | E>K | Brugada syndrome Atrial fibrillation Brugada syndrome 1 Atrial fibrillation, familial, 10 (atfb10) Atrial fibrillation, familial, 10 ATFB10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001084930 rs41313681 CA015659 RCV001147412 RCV000058469 RCV001841597 RCV001147411 RCV000041608 RCV001147414 RCV001147415 VAR_074370 RCV001147413 RCV001147416 |
656 | P>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061877726 RCV001841115 |
658 | A>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA059384 RCV001351217 RCV001840991 rs374908012 RCV002418637 |
659 | R>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs730880205 RCV000157483 RCV001842501 CA015669 RCV002415686 RCV000171700 RCV001365507 |
659 | R>W | Cardiac arrhythmia Brugada syndrome Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000808548 rs969308588 COSM1566784 CA72932963 RCV001585737 RCV001841987 COSM1566785 |
661 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA015679 VAR_074371 rs199473139 RCV000058470 |
661 | R>W | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002420656 RCV000798478 RCV001584456 RCV001267072 RCV000627152 CA059399 rs371313714 RCV001841811 |
662 | A>S | Cardiac arrhythmia Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000523591 RCV001841410 CA059406 rs757444820 RCV001317648 |
664 | S>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000182993 RCV001842905 CA015703 RCV000223785 rs756474485 RCV000548890 |
665 | A>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000536248 CA015693 RCV002415778 RCV000766788 RCV000183175 rs756474485 RCV003150058 RCV001842937 RCV002500546 |
665 | A>T | Cardiac arrhythmia Brugada syndrome Cardiomyopathy Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001585747 CA059455 RCV000813364 RCV002422803 COSM393139 rs768055977 RCV001550964 RCV001841990 |
668 | V>I | lung Cardiac arrhythmia Brugada syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002290611 RCV002559717 rs2061876759 RCV001842677 |
669 | L>P | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501137 RCV000472767 CA16611391 |
670 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501137 RCV001842644 |
670 | T>N | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061876330 RCV001843295 |
672 | A>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001085298 RCV002415516 VAR_074372 RCV001842305 RCV000212990 rs199473140 RCV001293134 RCV000058471 CA015733 |
672 | A>T | Cardiac arrhythmia Brugada syndrome Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_074720 CA015742 RCV000703316 RCV000058472 rs199473141 |
673 | L>P | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001145463 RCV001145464 rs376173627 RCV000689944 RCV001841857 CA059629 RCV001149805 RCV002422490 RCV001149804 RCV001145462 RCV001149803 RCV002485630 |
680 | R>C | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) Sick sinus syndrome 1 (sss1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA015757 RCV001854218 RCV001699115 COSM1537925 RCV001842306 VAR_055181 RCV000058473 COSM1537924 RCV000156507 rs199473142 |
680 | R>H | lung Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; impact. SUDDEN INFANT DEATH SYNDROME LQT3 [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs199473143 RCV000058474 CA015766 VAR_026359 |
681 | H>P | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074373 RCV001842307 CA015785 RCV000058475 rs199473144 |
683 | C>G | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs199473580 VAR_074721 RCV000058476 CA015805 |
689 | R>C | Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001842308 RCV000212991 RCV002490653 rs199473145 RCV000058477 RCV000459420 VAR_074374 CA015813 COSM2986674 COSM2986672 RCV000779408 RCV000987218 RCV000617789 RCV000148852 |
689 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. pancreas central_nervous_system Long QT syndrome Brugada syndrome 1 SCN5A-Related Arrhythmias LQT3; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473146 RCV001842309 RCV000638702 RCV003162455 RCV003224132 CA015822 COSM1309087 RCV000058478 COSM1309086 RCV001811346 |
691 | A>T | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome urinary_tract Brugada syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2061858969 RCV001209506 |
692 | Q>H | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000618520 RCV000202895 RCV001149800 RCV000987217 RCV001149799 RCV001149801 CA015830 rs45553235 RCV001842310 RCV000058479 RCV000157484 RCV001149798 RCV001149802 RCV000148842 VAR_074375 RCV000151790 |
692 | Q>K | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481535 rs375306544 RCV001841399 CA059716 RCV000816895 RCV002420242 RCV000482322 |
693 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001843091 rs373087176 RCV001327828 CA059728 |
693 | R>H | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253388 RCV001841195 RCV002570389 rs373087176 RCV001248781 |
693 | R>L | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001255579 RCV002420720 RCV001841841 RCV000638730 rs1438675647 RCV002269294 CA352144821 |
694 | Y>C | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA72932583 rs982826209 RCV001841194 RCV002224039 RCV001246258 |
696 | I>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001842311 VAR_074376 RCV000182996 rs199473147 RCV000526384 RCV000619698 RCV000058480 CA015838 RCV000171571 |
701 | P>L | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Long QT syndrome BRGDA1 and LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000638679 RCV000183152 rs794728911 |
702 | L>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842313 VAR_074377 CA015866 rs199473148 RCV001059141 RCV000058482 |
705 | S>F | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000058483 rs199473581 CA015873 |
709 | G>V | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759036311 RCV001597000 RCV000226519 RCV002429142 CA059817 RCV002282083 RCV001843001 |
714 | V>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473149 VAR_074378 CA015882 RCV000998023 RCV000058484 |
717 | P>L | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841031 rs1354646790 CA352144624 |
723 | I>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs753462178 RCV001842777 RCV003117810 CA059859 |
724 | T>I | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs869025523 RCV000208394 |
727 | I>missing | Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA72932545 RCV001361038 RCV002487613 rs958480279 RCV002424779 RCV000781842 RCV001841974 RCV001759475 RCV001254736 |
728 | V>I | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000458183 rs1060499940 |
729 | L>missing | Familial isolated arrhythmogenic right ventricular dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002224010 rs2061856218 RCV001843239 |
729 | L>F | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074722 rs199473150 RCV000058485 CA015899 RCV001508494 RCV001055114 |
731 | T>I | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA352144564 rs1553702946 RCV000532316 |
732 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854611 CA015938 RCV000058487 VAR_026360 |
735 | A>E | Brugada syndrome Brugada syndrome 1 (brgda1) BRGDA1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000058486 CA015925 rs199473151 |
735 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854611 COSM277179 RCV000009989 RCV000058488 VAR_017674 CA015951 |
735 | A>V | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002431591 rs1553702937 CA352144541 RCV000540317 |
736 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061855360 RCV001350364 |
737 | E>G | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182998 rs794728862 CA015965 RCV002516920 RCV002426880 |
737 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135401948 RCV000496753 CA352144529 |
738 | H>P | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762058225 CA059935 RCV001842658 |
742 | T>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000498105 RCV002498341 COSM229462 RCV000987216 rs199473582 CA015974 VAR_074379 RCV000058489 |
746 | E>K | Brugada syndrome skin Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001841493 RCV001868026 CA059965 RCV000603848 rs747324991 |
747 | E>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1424832911 RCV001841946 CA352144449 |
748 | M>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000058490 rs199473152 VAR_074723 RCV001054677 CA015984 |
750 | Q>R | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001843237 CA059970 rs772681454 RCV003117818 |
751 | V>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000244833 VAR_026361 rs199473153 CA016002 RCV000058491 RCV000182999 |
752 | G>R | Brugada syndrome Variant assessed as Somatic; 0.0 impact. BRGDA1 and PFHB1A [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001039759 rs2061854296 |
753 | N>H | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611472 RCV000462733 rs75960619 |
754 | L>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016012 rs199473154 RCV000058492 VAR_074380 |
758 | G>E | Brugada syndrome Variant assessed as Somatic; impact. BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001307113 RCV000058493 RCV000620477 rs199473155 CA016025 |
759 | I>F | Brugada syndrome Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001841205 RCV001314768 CA060157 RCV002447332 rs199473155 RCV002499609 |
759 | I>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473156 VAR_074381 CA016048 RCV000058494 |
764 | M>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes dbSNP |
|
RCV002505646 RCV001066785 RCV002445344 rs2061688177 |
765 | T>I | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810905 rs1575773471 |
767 | K>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016059 RCV003224126 RCV000041609 RCV000157485 RCV001147315 RCV001147316 rs199473157 RCV001841598 RCV000201502 RCV001147317 RCV001145375 RCV001145377 RCV000058495 VAR_074382 RCV002223775 RCV001145376 RCV000229288 |
772 | D>N | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Cardiomyopathy Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Primary dilated cardiomyopathy Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) Congenital long QT syndrome Dilated cardiomyopathy 1E Long qt syndrome 3 (lqt3) BRGDA1 and LQT3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001061131 rs2061687716 |
773 | P>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058496 rs199473158 RCV002223183 VAR_074383 CA016076 |
773 | P>S | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs794728863 RCV000183001 RCV001842906 CA016084 |
777 | F>Y | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001258076 rs2061687300 |
779 | Q>missing | Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016095 rs199473583 RCV000058497 |
779 | Q>K | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798943 CA352143328 rs1183753684 |
788 | I>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001317817 rs1183753684 CA352143329 |
788 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002483111 RCV003162456 COSM1593670 CA016111 RCV000058498 VAR_074384 rs199473159 RCV000454526 COSM1044288 |
789 | V>I | Brugada syndrome endometrium Brugada syndrome 1 Variant assessed as Somatic; 4.642e-05 impact. BRGDA1; unknown pathological significance [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352143287 rs1403057447 RCV001843147 |
794 | M>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
CA16611283 rs1060501141 RCV000463124 COSM1720352 COSM1720350 |
795 | E>K | Brugada syndrome NS [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001843297 rs987266626 |
797 | G>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA72929420 RCV000618327 RCV001868108 rs987266626 RCV001841796 |
797 | G>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701968 RCV002481694 RCV001841411 rs764252430 RCV000521255 CA060327 |
800 | R>C | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000780704 RCV000232921 rs566251672 RCV000765739 RCV001842961 CA060332 RCV000208238 RCV002444836 |
800 | R>H | Cardiac arrhythmia Brugada syndrome Arrhythmogenic right ventricular cardiomyopathy Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001841357 rs566251672 RCV000458394 CA060340 |
800 | R>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001194084 RCV001841936 rs1559758625 CA352143247 |
801 | M>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000522308 rs767947088 CA060361 RCV001231955 |
805 | S>L | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001201829 RCV000487125 rs1064793344 CA16617951 |
807 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002534027 rs749864465 CA060381 RCV001841888 |
808 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs199473160 COSM277178 RCV000171699 RCV001842524 CA016124 |
808 | R>H | Cardiac arrhythmia Variant assessed as Somatic; 0.0 impact. large_intestine Long QT syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000058499 rs199473160 VAR_074385 CA016130 |
808 | R>P | Congenital long QT syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA016138 rs794728864 RCV001852343 RCV000183002 |
811 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002506507 RCV002531787 CA060390 rs769349991 RCV000621795 |
811 | R>H | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_076555 | 812 | L>Q | BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no dominant negative effect [UniProt] | Yes | UniProt |
|
RCV001258075 RCV000620361 CA016182 VAR_055182 RCV000824760 RCV000497380 rs199473584 RCV001842314 RCV000058501 |
814 | R>Q | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000220629 RCV000587580 RCV000457460 rs199473161 RCV000183003 RCV001197653 CA016173 RCV001262605 |
814 | R>W | Brugada syndrome Variant assessed as Somatic; impact. Sick sinus syndrome 1 Primary dilated cardiomyopathy Dilated cardiomyopathy 1E [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs769243029 CA060497 RCV001840980 |
816 | F>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000058502 VAR_074724 CA016190 rs199473162 |
816 | F>Y | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_076556 | 817 | K>E | BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation [UniProt] | Yes | UniProt |
|
RCV000638696 rs865884072 CA352142723 |
819 | A>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000604844 rs1553700699 CA352142670 |
822 | W>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1044284 RCV000802164 rs1303574728 CA352142669 COSM1154162 |
823 | P>T | Brugada syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001843270 rs1452787540 CA352142646 |
824 | T>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559757317 RCV000693337 CA352142638 |
825 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016198 rs794728929 RCV002664302 |
828 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728929 RCV001257451 |
828 | L>V | Long QT syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148860 RCV002426618 RCV000987215 RCV000058503 CA016206 RCV001088049 RCV001842315 RCV000239085 rs45475899 |
833 | G>R | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Long QT syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352142510 RCV000706962 rs1559757280 |
834 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1421700935 CA352142502 RCV000638691 |
835 | S>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199473163 CA016213 RCV000058504 |
835 | S>L | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA060533 RCV000519232 RCV002431487 rs768289937 RCV001858010 |
836 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000058506 VAR_074386 rs199473164 CA016228 |
839 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA016234 rs199473585 RCV000058507 |
840 | G>R | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000183178 CA016243 rs199473165 RCV000058508 |
843 | T>A | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003147381 RCV000183153 rs794728912 RCV000614105 RCV000621392 |
845 | V>missing | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472294 RCV000183004 RCV001842316 RCV000058509 VAR_074725 CA016256 rs199473166 RCV000766791 |
848 | I>F | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002223280 RCV001841025 RCV001341719 CA352142322 RCV002429831 COSM164216 RCV001262686 rs911293694 |
850 | V>M | Cardiac arrhythmia Brugada syndrome NS Brugada syndrome 1 Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397514450 RCV000183154 RCV000698158 RCV000010008 RCV001842933 RCV002500544 RCV002433811 |
851 | F>missing | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061659113 RCV001231351 |
851 | F>C | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016267 VAR_026362 RCV000058510 rs199473586 |
851 | F>L | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058511 CA016274 rs199473340 |
851 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001843132 rs2061658984 |
852 | I>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429489 RCV000474858 CA060594 rs757302500 RCV001841351 |
857 | G>D | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001245756 rs2061658738 |
859 | Q>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003165395 rs794728865 CA016289 RCV002265668 RCV000183005 RCV000471498 |
859 | Q>* | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs794728914 RCV000201886 RCV000183155 |
861 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA060613 RCV000531366 RCV002483408 RCV002431592 rs755194086 RCV001841462 |
866 | S>L | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000058512 VAR_074387 CA016307 rs199473167 |
867 | E>Q | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA016315 rs763396298 RCV002433807 RCV000183006 RCV001842907 RCV001070753 COSM730971 COSM1149734 |
872 | D>N | lung Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000183007 rs794728866 RCV002515344 CA016321 |
873 | S>L | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA060647 RCV002489615 rs765698507 RCV001050644 |
874 | G>D | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352141975 RCV000543994 rs1471640168 |
876 | L>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501147 RCV001841359 CA16611390 RCV000456444 RCV001770318 RCV002429490 |
877 | P>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000183008 RCV000058513 rs199473168 RCV000621112 CA016333 VAR_055183 |
878 | R>C | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058514 VAR_074388 rs199473587 RCV001753475 CA016340 |
878 | R>H | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1060501114 RCV000470092 CA16611268 |
879 | W>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559756973 RCV000678980 CA352141906 |
881 | M>I | Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000794098 rs1575769807 RCV002424803 CA352141884 |
883 | D>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061656962 RCV001841118 |
885 | F>missing | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058515 rs199473169 VAR_074389 CA016358 |
886 | H>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs199473169 RCV001048904 |
886 | H>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1575769796 CA352141842 RCV000805179 |
886 | H>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352141778 rs1377303945 RCV001322156 |
891 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA016384 VAR_026363 RCV000058516 rs199473170 |
892 | F>I | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074390 rs199473171 RCV000058517 COSM1131460 RCV000183009 RCV000619419 RCV000678939 CA016390 |
893 | R>C | Brugada syndrome Brugada syndrome 1 prostate BRGDA1; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000520411 CA016396 RCV000058518 RCV002426619 RCV000766747 rs199473172 VAR_074391 |
893 | R>H | Brugada syndrome Variant assessed as Somatic; 4.621e-05 impact. BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473172 RCV002074453 CA016400 |
893 | R>L | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001067367 CA060693 rs745645876 |
894 | I>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199473173 VAR_026364 CA016406 RCV000058519 |
896 | C>S | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002451689 rs2061656145 RCV001305265 |
897 | G>E | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473174 RCV000058521 RCV001762168 CA016428 VAR_074392 |
901 | E>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1341909190 RCV001840986 RCV001876191 CA352141602 |
903 | M>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2061655520 RCV001039312 |
903 | M>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1575769476 RCV000791943 CA352141591 |
904 | W>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001840995 rs2061655209 |
905 | D>G | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048739 rs2061655254 |
905 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842718 RCV001324722 rs2061655063 |
907 | M>I | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473175 RCV000624813 RCV000058522 CA016445 RCV001588893 VAR_026365 RCV000617872 |
910 | S>L | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases BRGDA1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs876661392 CA10581144 RCV003165587 RCV001842986 RCV000766792 RCV000223750 RCV001245866 |
912 | Q>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061654524 RCV001070853 |
914 | L>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843292 RCV002223279 rs2061654471 |
914 | L>F | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058523 CA016453 rs199473588 VAR_074393 |
915 | C>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058524 rs199473176 CA016461 VAR_074394 RCV002255128 |
917 | L>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA016467 RCV002503712 RCV000183011 rs794728868 RCV003114335 |
919 | F>S | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061653998 RCV001843208 |
919 | F>missing | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047636 rs2061653830 |
923 | M>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843246 rs2061653672 |
924 | V>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000157486 VAR_074395 CA016475 RCV001841599 RCV000041611 RCV000238603 rs199473177 RCV001085097 RCV000058525 |
924 | V>I | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1449950677 RCV001305304 |
925 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061653516 RCV001289995 RCV001337808 |
926 | G>D | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074396 RCV000058526 CA016482 rs199473589 |
927 | N>S | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA016490 rs199473178 RCV000058527 VAR_074397 |
928 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001337553 rs2061582195 |
932 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074398 CA016529 RCV000058529 rs199473179 |
935 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000350923 RCV000290282 CA10616336 RCV002487514 RCV000297214 RCV000314941 RCV000349957 RCV000405040 RCV000405941 rs886058462 |
939 | L>F | Brugada syndrome Progressive familial heart block Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061581608 RCV001210614 RCV001586051 |
939 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA72926456 RCV001062802 rs879123756 RCV001256849 RCV001842605 |
940 | S>N | Cardiac arrhythmia Brugada syndrome Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000009982 CA016545 rs137854605 VAR_017675 RCV002512954 |
941 | S>N | Brugada syndrome Long QT syndrome 3 Long qt syndrome 3 (lqt3) LQT3; also in SIDS [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2061581068 RCV001217131 |
945 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465344 CA016562 rs794728869 |
949 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001841102 TCGA novel rs794728869 |
949 | A>V | Cardiac arrhythmia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA016569 rs794728870 RCV001852344 RCV000183013 |
950 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774178124 CA060975 RCV001843079 |
952 | E>K | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000183014 RCV000638723 rs762818132 RCV002433808 CA016578 |
953 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061580394 RCV001234740 |
954 | R>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436529 RCV000853446 RCV001841395 RCV000532744 rs756159737 RCV000482288 |
955 | E>missing | Cardiac arrhythmia Brugada syndrome Sudden cardiac death [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV001842745 rs2061579911 |
958 | N>S | Cardiac arrhythmia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001841464 RCV000545346 CA352140413 rs1329499714 RCV001823733 |
959 | L>F | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1276970820 RCV002223919 RCV000699344 CA352140409 RCV001841868 |
959 | L>P | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002498342 rs199473590 RCV000058532 VAR_074726 CA016586 RCV000702377 |
960 | Q>K | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000557903 rs1553699796 CA352140361 |
964 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000825044 CA016594 VAR_026366 RCV000987214 RCV002433563 RCV000058533 rs199473180 RCV000183015 RCV001842318 |
965 | R>C | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_074399 COSM1149733 rs199473181 RCV001842319 CA016602 COSM730972 RCV000058534 RCV000455768 |
965 | R>H | lung Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. BRGDA1; unknown pathological significance [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA016609 RCV000701824 VAR_074727 RCV000058535 rs199473181 RCV002490654 |
965 | R>L | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2061578946 RCV001048541 |
967 | Q>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842754 rs2061578758 |
969 | G>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_068333 RCV001842320 rs61737825 CA016616 RCV000534072 RCV000058536 |
971 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA061020 COSM1422809 rs749651069 RCV002440672 RCV000800428 COSM1044272 RCV001841979 |
971 | R>H | Variant assessed as Somatic; 4.705e-05 impact. Cardiac arrhythmia Brugada syndrome large_intestine endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001322820 rs2061578242 |
974 | K>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472537 RCV001145290 RCV001145289 RCV001145288 RCV000183016 RCV000765738 RCV001842908 CA016636 RCV000678961 RCV002433809 RCV001145291 rs753149586 RCV001145292 |
975 | R>Q | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001842321 CA016625 RCV000462504 RCV000058537 RCV002477198 rs41311135 |
975 | R>W | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611275 rs1060501135 RCV000468011 |
978 | W>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697149 rs754467213 RCV001841865 CA061043 |
979 | D>H | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000058538 CA016644 rs199473591 VAR_074728 |
981 | C>F | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000781839 rs1553699766 CA352140126 |
982 | C>* | Brugada syndrome (shorter-than-normal QT interval) [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000845398 RCV001149577 RCV002433564 CA016652 rs199473182 RCV001084383 RCV001149578 RCV000852549 RCV001149579 RCV001842322 RCV000724184 RCV000151788 RCV001149580 RCV001149576 RCV001145287 RCV000058539 |
982 | C>R | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1E Sudden cardiac death [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001149574 RCV001149573 rs2061577593 RCV001149575 RCV001148030 RCV001148029 RCV001148031 |
982 | C>Y | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766096031 CA061050 RCV001842683 RCV003142105 RCV002436737 RCV001241456 |
983 | G>D | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001147142 RCV001147139 RCV001147138 RCV000638655 VAR_074400 COSM1422807 CA016672 COSM1422806 RCV000058540 RCV000417955 RCV001147140 RCV001147141 rs41313667 RCV001147137 RCV001842323 |
986 | R>Q | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 large_intestine Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs561547165 RCV000379970 CA016660 RCV000285751 RCV000345371 RCV000320680 RCV002433810 RCV000374045 RCV001094864 RCV000183018 RCV000381271 RCV000265516 RCV001842910 |
986 | R>W | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002492819 COSM1422804 CA016691 RCV001842932 COSM1422803 RCV000551252 rs759584454 RCV001781542 |
988 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Brugada syndrome 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000183019 RCV000472199 RCV002492815 rs768691853 RCV001842911 CA016684 |
988 | R>W | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2061576891 RCV001843265 |
989 | P>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352140043 RCV000623119 rs1553699747 |
990 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000825045 CA061107 RCV000559257 RCV002438346 rs770088052 |
993 | A>T | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352139961 RCV001309135 RCV002437056 rs1263123803 |
996 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000766460 RCV001842470 RCV000151786 CA016729 rs727503408 |
997 | A>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854609 VAR_017676 RCV002504775 RCV000058542 RCV000183020 CA016718 RCV000009986 |
997 | A>S | Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 Long qt syndrome 3 (lqt3) LQT3; also found in patients with atrial fibrillation; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA016710 rs137854609 RCV000766794 RCV000151787 RCV001145181 RCV000058541 RCV001842324 RCV001145180 RCV001145182 RCV000171570 RCV003149712 RCV001145179 RCV001147136 VAR_074401 |
997 | A>T | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E SUDDEN INFANT DEATH SYNDROME Long qt syndrome 3 (lqt3) BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs794728872 RCV001996789 |
998 | Q>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748297358 RCV000218657 RCV001842983 RCV000617289 RCV000696895 |
1000 | Q>missing | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750100874 CA061148 RCV001317068 |
1002 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000476373 rs1064792926 RCV000482498 |
1004 | C>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842325 RCV001145177 CA016748 RCV001145178 RCV001149460 RCV001079584 rs199473183 RCV001149459 RCV001145176 RCV000766795 RCV000987213 RCV000155885 VAR_074729 RCV002433565 RCV000058543 |
1004 | C>R | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Long qt syndrome 3 (lqt3) LQT3; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001038316 rs761494684 CA061157 |
1005 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000823825 RCV003169057 rs763935970 RCV001842004 CA061168 |
1007 | T>I | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016755 rs199473184 RCV000058544 RCV001212195 |
1008 | P>S | Conduction system disorder Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000455892 RCV001841343 RCV002436370 rs369249772 CA061192 RCV002522752 |
1011 | P>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA061186 rs774357843 RCV000794976 |
1011 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061574410 RCV001215132 |
1015 | E>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001079287 rs199473185 RCV000058545 RCV002444520 CA016763 VAR_074402 RCV001842326 RCV003224133 |
1016 | T>M | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000183017 RCV001305001 CA016779 RCV001842909 RCV002444735 RCV000766796 rs794728871 |
1021 | P>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2061573532 RCV001344179 |
1022 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194088 COSM1158190 RCV001592888 RCV000696217 RCV001841863 RCV002442471 rs745435760 COSM1158191 CA061233 |
1023 | R>C | Cardiac arrhythmia Brugada syndrome pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000757741 RCV000058546 RCV000987212 rs199473592 VAR_055184 CA016787 RCV002444521 RCV000183023 RCV001842327 |
1023 | R>H | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002447212 RCV002491823 rs199473592 CA061242 RCV001245078 |
1023 | R>P | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002319539 RCV000691183 VAR_026367 RCV000624440 rs763891399 CA061251 RCV001569679 RCV000765737 RCV001841807 |
1027 | R>Q | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001841872 RCV000702209 rs1455337011 CA352139580 RCV002319563 RCV002485729 |
1027 | R>W | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Variant assessed as Somatic; 4.651e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000541845 rs1553699663 |
1028 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064797003 RCV000483740 RCV002323845 CA16617949 RCV001227294 |
1029 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA061265 RCV001202095 rs376815707 |
1032 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001842913 RCV000183026 rs369565476 RCV000689284 CA016803 |
1032 | E>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000058547 RCV001842328 rs199473641 RCV002504972 RCV000525766 CA016812 RCV001576881 |
1033 | Q>R | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_074403 RCV000058550 RCV002321558 RCV000540482 RCV001842329 CA061293 CA016841 RCV000765736 rs199473186 |
1040 | G>R | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV000183180 RCV000687969 rs45491996 RCV002321728 RCV001842938 VAR_047361 CA016857 |
1041 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 4.643e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1318798411 CA352139374 RCV000552968 |
1043 | E>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003110748 CA72926174 rs267599788 |
1044 | P>L | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001290669 CA061309 RCV000531250 RCV001841465 rs527480102 RCV002323954 |
1045 | V>M | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001296450 rs2061571102 RCV001212633 |
1047 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227435 rs878855287 |
1048 | P>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685195 CA352139286 RCV002499215 RCV001841853 rs1373296470 RCV001700447 |
1050 | A>T | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001578235 CA352139258 rs1430691171 RCV000541406 |
1052 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001843089 rs2061570437 |
1052 | A>T | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022945 RCV000469648 CA016871 RCV002321478 RCV001528558 RCV000010002 RCV000058552 RCV000755695 RCV001841242 COSM1537937 COSM1537938 rs137854617 VAR_026368 |
1053 | E>K | lung Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) Atrial fibrillation, familial, 10 (atfb10) Atrial fibrillation, familial, 10 BRGDA1, ATFB10 and LQT3; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes [Cosmic, ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_074404 CA016878 rs199473593 RCV000058553 |
1055 | D>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002559125 CA72926107 rs942008930 RCV001840996 |
1058 | D>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792521 CA061337 rs7430407 CA352139126 |
1061 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000638711 rs779953279 RCV000183159 RCV002321727 |
1064 | E>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016900 RCV000183027 RCV001082100 RCV001842330 COSM1422792 rs199473187 RCV000058554 RCV000987211 VAR_068334 RCV002321559 COSM1422791 RCV000766797 |
1069 | T>M | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Congenital long QT syndrome central_nervous_system Brugada syndrome 1 LQT3 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000992911 rs758282196 RCV000638671 RCV002325235 RCV001841832 RCV001264426 |
1072 | E>missing | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553699582 RCV001841805 RCV002531790 CA352138945 RCV000618208 |
1075 | K>N | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473188 RCV002477199 CA016932 RCV000058556 RCV000688680 |
1079 | S>F | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002444736 RCV002492816 RCV001842914 RCV001037034 CA016917 rs376183542 RCV000183028 |
1079 | S>T | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA016925 VAR_074405 RCV000058555 rs199473188 |
1079 | S>Y | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001843248 RCV002559082 rs2061541848 |
1080 | Q>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473189 RCV000704663 CA016938 VAR_074406 RCV000058557 |
1082 | V>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000798917 RCV000480297 rs1064795784 |
1083 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780015717 RCV000707060 CA061502 |
1083 | S>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016964 RCV001850144 RCV000156018 rs199473190 |
1084 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002498343 RCV000058558 RCV001854220 CA016951 VAR_055185 rs199473190 |
1084 | G>S | Brugada syndrome Brugada syndrome 1 SUDDEN INFANT DEATH SYNDROME SIDS; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs2061541054 RCV001344874 RCV002322287 |
1086 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001145074 RCV001145075 RCV001145072 RCV001145073 rs369704754 RCV001145071 RCV001145070 |
1088 | A>S | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001147026 RCV000852964 CA016979 RCV001147027 RCV000154839 RCV001147029 RCV000729899 RCV001842482 RCV002321640 rs369704754 RCV001147028 RCV001145077 RCV001145076 RCV001085792 |
1088 | A>T | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Cardiomyopathy Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841117 rs778016632 CA061517 |
1088 | A>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001084763 RCV001841602 RCV001149371 VAR_014464 RCV000041614 RCV001149369 RCV001149372 CA016988 RCV001149370 RCV001149368 RCV000242258 RCV000852963 RCV000058559 RCV001149367 rs1805125 RCV002483030 |
1090 | P>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Hypertrophic cardiomyopathy Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1217355486 RCV001843141 CA352138840 |
1091 | D>Y | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs759924541 CA16611385 RCV000476938 RCV002223845 RCV002289588 |
1095 | W>* | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352138810 RCV002446970 CA061553 rs759924541 RCV000619635 RCV000497768 RCV002527138 |
1095 | W>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473191 RCV002321560 RCV001147833 RCV001842331 RCV001147832 RCV001147831 CA017002 RCV001149366 VAR_074407 RCV001147830 RCV001089363 RCV000058561 RCV001149365 |
1098 | V>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA352138793 rs199473191 RCV002531766 RCV000617529 |
1098 | V>M | Brugada syndrome Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001216799 CA061574 rs574531617 |
1100 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000058562 rs199473192 RCV002477200 RCV000183030 RCV000557958 RCV000621290 RCV000148851 VAR_074730 CA017023 RCV001842332 |
1100 | A>V | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352138771 RCV002507082 RCV002458033 RCV000638667 rs1481582794 |
1102 | A>T | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA352138764 RCV000790456 rs1575757097 |
1103 | S>A | Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA061598 RCV001876214 RCV001841079 rs7626962 RCV002480629 RCV001508493 |
1103 | S>F | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_017677 RCV003125829 RCV000058563 RCV000204216 RCV000009993 RCV000274325 RCV000363449 RCV001094834 rs7626962 RCV000621429 RCV000041615 RCV000396768 CA017028 RCV001841239 RCV003149567 RCV000368908 RCV000845517 RCV000755696 RCV000304064 RCV000009992 RCV002504776 |
1103 | S>Y | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Cardiomyopathy Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Primary dilated cardiomyopathy Brugada syndrome 1 Brugada syndrome 1 (brgda1) Congenital long QT syndrome Long QT syndrome 3, acquired, susceptibility to Left ventricular noncompaction SUDDEN INFANT DEATH SYNDROME Dilated cardiomyopathy 1E Long qt syndrome 3 (lqt3) may confer susceptibility to acquired arrhythmia [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001052080 rs2061539248 |
1104 | S>Y | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1243589369 RCV001058003 |
1106 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058564 RCV000987210 VAR_074408 CA017032 RCV001087953 rs199473193 |
1107 | E>K | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA017049 RCV000058565 RCV002490656 rs199473194 VAR_074409 RCV001842333 |
1113 | A>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_009935 RCV000454482 RCV000816220 CA017057 RCV001842334 rs199473195 RCV000058566 RCV001572250 |
1114 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA017075 RCV000656974 RCV001841603 rs369678002 RCV000463784 RCV000041616 |
1116 | R>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002490657 RCV000058567 RCV000618999 rs199473196 RCV000536242 CA017065 VAR_074410 RCV001842335 |
1116 | R>W | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000213225 RCV000208454 CA352047 rs869025520 |
1118 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs965297274 RCV001225165 CA72925046 |
1120 | K>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2061537897 RCV001842713 |
1121 | A>T | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843552 CA061685 rs751938579 RCV001841996 RCV000815113 RCV002325599 |
1121 | A>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000471876 rs1060501126 CA16611266 |
1123 | P>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000809532 rs730880206 CA352138621 |
1125 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001842502 CA017096 rs730880206 RCV000157487 |
1125 | A>G | Cardiac arrhythmia Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001298811 rs796070621 RCV001700732 CA72925039 |
1125 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1179884443 CA352138606 RCV001842785 |
1128 | C>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001843211 rs879229776 CA72925026 RCV001294781 |
1129 | G>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000058569 RCV000468996 RCV002453376 CA017114 RCV000587127 rs199473197 RCV001842336 VAR_055186 RCV002498344 |
1131 | T>I | Cardiac arrhythmia Brugada syndrome Atrial fibrillation Brugada syndrome 1 ATFB10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002458034 rs199473197 RCV000638692 CA352138573 RCV001841835 |
1131 | T>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841134 RCV002497667 CA061773 rs371469522 |
1131 | T>S | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001842773 rs2061494238 |
1132 | P>Q | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352138553 RCV001341809 rs1159674824 |
1134 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001842915 RCV002453660 RCV001307946 RCV000987209 RCV001280587 CA017130 rs557957405 RCV000183035 |
1135 | S>I | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000058570 RCV002477201 RCV000183036 rs199473198 CA017144 RCV000472805 |
1138 | E>A | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs760339455 RCV000821826 CA061821 RCV001842002 |
1138 | E>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199473199 CA017152 VAR_074411 RCV000058571 |
1140 | S>T | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs879255356 RCV000238880 CA10585977 RCV001065711 |
1142 | A>V | Brugada syndrome Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061493427 RCV001843177 |
1145 | T>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183181 RCV001235814 rs794728930 CA017161 |
1147 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001879985 RCV001258152 CA061831 RCV001841198 rs759374610 |
1147 | T>N | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA72923967 rs759374610 RCV001316216 |
1147 | T>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762810998 RCV001235539 |
1148 | A>P | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762810998 RCV001841977 CA061848 RCV000795648 RCV002495042 |
1148 | A>T | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1575751854 CA352138435 RCV000987208 |
1153 | Q>* | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001841939 rs776705132 CA061864 RCV003150347 RCV000808303 |
1153 | Q>H | Cardiac arrhythmia Brugada syndrome Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000314661 RCV000287616 RCV002487513 CA061870 RCV000345003 RCV000403733 rs781103369 RCV000299399 RCV001094943 RCV002338944 RCV000403001 RCV000348480 RCV001653665 |
1155 | P>S | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001242254 RCV000766799 rs747205537 RCV000183037 CA017175 RCV001842916 |
1156 | D>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1380330936 RCV000818717 CA352138406 RCV001842000 |
1158 | G>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001841060 rs2061492444 |
1158 | G>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842695 RCV002559728 CA72923946 rs1026562595 |
1163 | D>Y | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000228052 rs878855288 CA10582193 |
1164 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000183160 RCV001258367 rs794728918 |
1165 | E>missing | Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061491992 RCV001062762 |
1165 | E>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473594 RCV000058573 CA017182 VAR_074731 |
1166 | D>N | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002456293 CA061897 RCV000589497 RCV001054051 rs779305181 |
1169 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779305181 RCV001147734 RCV001315337 RCV001147733 RCV001151072 RCV001151071 RCV001151074 RCV001151073 |
1169 | T>S | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231106 CA10582192 rs878855289 |
1171 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728919 RCV000183161 RCV001215090 |
1173 | V>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843271 rs2061472813 |
1173 | V>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA061963 RCV002451093 RCV001560406 rs367906630 RCV000460347 |
1174 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1537941 CA017218 rs199473200 RCV000058574 COSM1537940 |
1175 | R>C | lung Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001591080 RCV001841362 rs374314562 RCV000477194 RCV002481401 RCV002451094 CA061975 |
1175 | R>H | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002505783 CA352138278 rs1390530399 RCV001843210 |
1176 | C>R | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001146834 RCV001146836 RCV001146839 RCV001146835 rs2061472260 RCV001146837 RCV001146838 |
1176 | C>Y | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812901 rs1575749176 CA352138249 |
1180 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs41310765 CA017225 RCV000525661 RCV000987207 RCV003162457 RCV000058575 VAR_047362 RCV001842337 |
1180 | A>V | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000283704 RCV000372478 RCV000261453 RCV000380484 RCV001843002 RCV001094829 rs376965389 RCV002450713 RCV000323546 RCV000233896 RCV000341019 CA062009 |
1181 | V>A | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA017238 RCV001852345 RCV001842917 rs794728874 RCV000183038 |
1181 | V>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001144861 rs1437242831 CA352138227 RCV001150969 RCV001144858 RCV001144860 RCV001842612 RCV001144859 RCV001150970 |
1183 | T>I | Cardiac arrhythmia Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001203919 rs2061471013 |
1186 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001150965 RCV000156315 RCV001150967 rs199473595 RCV000638678 RCV001150964 RCV001150966 RCV000058576 RCV001842338 CA017261 RCV000765735 RCV001150968 RCV001150963 |
1186 | A>T | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000058577 CA017267 rs199473201 |
1187 | P>L | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001841914 CA062038 rs199473201 |
1187 | P>Q | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001843062 rs1375890695 |
1189 | K>N | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM241533 rs1237724419 RCV000818046 CA352138179 |
1191 | W>* | Brugada syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV002476954 RCV001147627 VAR_017678 RCV000252422 RCV000755697 CA017287 RCV001147624 RCV001147626 RCV001841238 RCV003149566 RCV000157488 RCV000058578 RCV001147625 RCV000009991 rs41261344 RCV000009990 RCV000154828 RCV000171819 |
1193 | R>Q | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Cardiomyopathy Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Brugada syndrome 1 (brgda1) Primary familial hypertrophic cardiomyopathy Long QT syndrome 3, acquired, susceptibility to Dilated cardiomyopathy 1E BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000624561 CA017280 RCV001842918 COSM1240139 rs192379242 RCV000183039 RCV002453661 RCV000470436 RCV000239165 COSM84793 |
1193 | R>W | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 oesophagus pancreas urinary_tract Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841061 RCV002223282 RCV002491562 rs1575748933 |
1194 | L>M | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842958 rs864622440 CA349214 RCV000205049 COSM187297 COSM3380563 RCV001193952 |
1195 | R>C | Cardiac arrhythmia Brugada syndrome pancreas large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA017297 COSM273679 RCV001306977 rs199473596 COSM1537946 RCV001842339 RCV002490658 RCV000058579 |
1195 | R>H | lung Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Ventricular tachycardia Brugada syndrome 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000058580 VAR_074732 CA017304 RCV001842340 rs199473202 RCV001854221 |
1199 | Y>S | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1559745565 RCV001843244 |
1200 | H>missing | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001092239 rs774537241 RCV001842611 CA062091 |
1208 | E>K | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000476501 RCV000183040 CA017347 RCV002485219 rs794728875 |
1210 | F>S | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728920 VAR_074733 RCV000183162 |
1212 | I>missing | LQT3; unknown pathological significance [UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs794728920 VAR_074733 |
1212 | I>del | LQT3; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001297551 RCV001812342 rs2061468266 |
1213 | F>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611463 RCV001841352 RCV000477116 rs1060501128 |
1214 | M>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000058584 CA017374 VAR_074412 rs199473597 |
1219 | S>N | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002453494 RCV002460932 rs727503407 CA017382 RCV000151783 RCV001056340 RCV001842467 |
1221 | A>V | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000201474 CA339598 rs863225118 |
1223 | A>P | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001842341 COSM3940504 RCV000058585 rs199473204 RCV001854222 RCV001731355 RCV001262491 COSM3940505 VAR_026369 CA017399 |
1225 | E>K | Cardiac arrhythmia Brugada syndrome oesophagus Congenital long QT syndrome Brugada syndrome 1 BRGDA1 and LQT3 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
CA352149443 RCV002535681 rs1559738598 RCV000780701 |
1228 | Y>* | Brugada syndrome (shorter-than-normal QT interval) Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074413 CA017405 rs199473205 RCV000058586 |
1228 | Y>H | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001841943 rs746509665 CA352149450 |
1228 | Y>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000550582 CA062201 rs779669888 |
1230 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199473598 RCV001258365 CA352149417 |
1231 | E>* | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061341534 RCV001841013 |
1231 | E>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183184 VAR_068335 RCV000797942 rs199473598 RCV000058587 CA017410 |
1231 | E>K | Brugada syndrome Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001840985 rs199473598 |
1231 | E>Q | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1240141 CA017422 rs199473206 RCV001842343 VAR_074414 RCV000058589 RCV000183043 COSM1240142 |
1232 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. oesophagus BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000144030 RCV001842342 VAR_017679 RCV000058588 RCV000183042 rs199473207 CA017416 RCV000009965 RCV002345369 |
1232 | R>W | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; impact. Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1 and PFHB1A [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA017441 RCV000058591 VAR_026370 rs199473208 |
1236 | K>N | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA017434 rs199473209 RCV001842344 RCV000058590 |
1236 | K>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_074415 rs199473210 RCV000058592 CA017455 |
1239 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
COSM583660 rs199473211 RCV001256851 RCV002504973 CA017461 VAR_026371 RCV000678843 RCV001842345 COSM1143248 RCV000058593 RCV003162458 |
1240 | E>Q | lung Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001842346 rs199473212 RCV002223184 RCV000058594 CA017466 |
1241 | Y>S | Cardiac arrhythmia Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559738468 RCV000702561 CA352149260 |
1243 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061340518 RCV001201807 |
1243 | D>G | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473599 RCV001146729 RCV001147622 RCV000058595 RCV001508492 VAR_074416 RCV000455383 RCV001146728 RCV001842347 RCV001147623 RCV000618887 RCV000778920 CA017472 |
1243 | D>N | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) BRGDA1; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061340443 RCV001245686 |
1244 | K>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753677814 RCV001323909 RCV001729846 RCV003117819 CA062231 CA352149230 RCV001843279 |
1245 | M>I | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352149238 rs1553696719 RCV000638685 |
1245 | M>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473213 RCV000058597 VAR_074417 CA017484 |
1249 | V>D | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_026372 CA017490 RCV000058598 rs45589741 |
1250 | F>L | Acquired long QT syndrome LQT3; drug-induced LQT syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001175239 rs756102773 CA352149188 |
1250 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001082815 RCV000058599 RCV000154838 RCV000620228 VAR_074418 COSM241532 CA017494 RCV001842349 rs199473600 |
1251 | V>M | Cardiac arrhythmia Brugada syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473214 RCV000058600 VAR_074419 CA017500 |
1253 | E>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001207752 rs2061339713 |
1254 | M>K | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753410 rs137854616 CA017513 RCV000755698 RCV001146725 RCV000010001 RCV001146727 RCV000779407 RCV001146726 VAR_036665 RCV000058602 |
1262 | G>S | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) SCN5A-Related Disorders BRGDA1; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000821777 CA352149041 rs1183090563 |
1264 | K>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553696666 RCV000497615 CA352149026 |
1265 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761274563 RCV001150867 RCV001759861 RCV001150868 RCV001325541 RCV001144754 RCV001842609 RCV002355108 CA062301 RCV001144756 RCV001144755 RCV001089973 |
1269 | N>S | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000618988 RCV002531808 CA352148956 rs1553696647 |
1271 | W>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074420 rs199473601 RCV000058603 CA017524 |
1271 | W>C | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1575735372 RCV000807450 CA352148927 |
1273 | W>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061338432 RCV001325641 |
1274 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022946 RCV000114992 RCV000617238 RCV002222347 VAR_026373 RCV000010003 rs137854618 RCV000058604 CA017530 RCV000183045 RCV000656563 |
1275 | D>N | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Dilated cardiomyopathy 1E Atrial fibrillation, familial, 10 (atfb10) Atrial standstill 1, digenic Atrial fibrillation, familial, 10 CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs199473215 CA017542 RCV000058605 |
1278 | I>N | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553782 RCV000183047 RCV002483112 RCV000148845 COSM357881 rs199473341 RCV001842350 CA017547 |
1279 | V>I | lung Cardiac arrhythmia Brugada syndrome Primary dilated cardiomyopathy Brugada syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000058607 COSM39561 rs199473602 CA017557 |
1281 | V>F | Brugada syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001843240 rs199473602 |
1281 | V>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064249 rs2061271482 |
1283 | L>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017562 RCV001842351 RCV000058608 RCV000221645 VAR_074734 rs199473216 |
1283 | L>M | Cardiac arrhythmia Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA352148254 RCV000800515 RCV001841981 rs1575728863 |
1287 | V>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017568 rs199473217 RCV000058609 VAR_074421 |
1288 | A>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA352148247 RCV000705077 rs1559734780 |
1289 | N>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352304 rs2061270977 |
1292 | G>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542225 rs1553695847 |
1293 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842352 RCV002354250 CA017579 VAR_026374 RCV000845318 RCV000151781 RCV001147537 RCV000417329 RCV003224134 rs41311127 RCV000171772 RCV000058610 |
1293 | F>S | Cardiac arrhythmia Brugada syndrome Long QT syndrome Brugada syndrome 1 Primary familial dilated cardiomyopathy Brugada syndrome 1 (brgda1) BRGDA1; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000617507 VAR_055187 RCV000798001 rs199473218 CA017593 RCV000058611 RCV000183048 RCV001842353 |
1295 | E>K | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
rs28937319 RCV000058612 VAR_017680 RCV000009994 CA017599 RCV001841240 |
1298 | P>L | Cardiac arrhythmia Sick sinus syndrome 1 Sick sinus syndrome Sick sinus syndrome 1 (sss1) SSS1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2061270172 RCV001842679 |
1299 | I>M | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175240 rs2061270021 |
1301 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413785 CA16042517 rs977717858 RCV001861412 RCV002252115 |
1303 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_008956 RCV001147536 RCV001842354 RCV000618218 RCV000725469 RCV000496069 RCV000824759 RCV000993797 rs199473603 CA017612 RCV000148846 RCV000058613 RCV000987206 RCV000470787 |
1304 | T>M | Cardiac arrhythmia Conduction disorder of the heart Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) LQT3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1403211358 RCV001586031 RCV001527028 CA352148144 RCV001841067 |
1306 | R>C | Cardiac arrhythmia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002321657 RCV000157489 rs730880207 RCV001842503 CA017618 RCV002492611 RCV000183050 RCV000624684 |
1306 | R>H | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1403211358 CA352148145 RCV001175242 |
1306 | R>S | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000176338 CA017626 RCV000987205 RCV001086004 rs41313031 RCV000058614 RCV000243761 RCV001842355 VAR_055188 RCV000010010 RCV000148841 |
1308 | L>F | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) Brugada syndrome, lidocaine-induced associated with I-232 in a case of lidocaine-induced Brugada syndrome [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000255223 rs886039459 RCV001843037 CA10588360 |
1309 | R>C | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002372119 RCV000987204 rs537423012 CA017632 RCV001314809 RCV001842919 |
1309 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001218463 rs2061269221 |
1310 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473219 VAR_074422 RCV000058615 CA017639 |
1311 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA352148091 RCV000590334 RCV001227043 RCV000681957 RCV001839456 rs1553695764 |
1316 | R>* | Brugada syndrome (shorter-than-normal QT interval) Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765907469 RCV001729452 CA062580 RCV000197793 |
1316 | R>L | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Long qt syndrome 3 (lqt3) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841983 RCV000802412 RCV002495081 rs765907469 CA062577 |
1316 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 Long qt syndrome 3 (lqt3) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841858 RCV000691101 RCV002369859 rs762546813 RCV002261176 CA062586 |
1317 | F>C | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473220 VAR_026375 RCV001842356 CA017654 RCV001553760 RCV000058616 RCV002483113 RCV000709762 RCV000505769 RCV000252945 |
1319 | G>V | Brugada syndrome (shorter-than-normal QT interval) Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000058617 CA017672 VAR_074423 rs199473221 |
1323 | V>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000518912 RCV001231148 rs1553695437 RCV001841415 RCV002497028 CA352147642 |
1324 | V>I | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs28937317 RCV000058618 VAR_001577 CA017679 RCV002354154 RCV000009964 RCV001225683 |
1325 | N>S | Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long qt syndrome 3 (lqt3) LQT3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473222 RCV000058619 CA017686 RCV000183188 VAR_074735 |
1326 | A>S | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA017693 rs199473223 RCV000058620 |
1329 | G>S | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA017704 rs199473224 VAR_055189 RCV000058622 |
1330 | A>P | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058621 VAR_055190 RCV000509258 RCV000589022 RCV000804115 rs199473224 CA017699 RCV000183053 |
1330 | A>T | Brugada syndrome Congenital long QT syndrome SCN5A-related disorder LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000845525 RCV000156127 rs727504801 |
1332 | P>missing | Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553695398 RCV001042061 RCV000498436 |
1332 | P>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001255563 rs199473225 RCV000183056 RCV000058623 VAR_055191 RCV002371902 CA017721 |
1332 | P>L | Brugada syndrome Variant assessed as Somatic; impact. Long QT syndrome BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs199473225 RCV000183055 RCV001061047 CA017715 |
1332 | P>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473604 VAR_036666 RCV000058624 CA017732 COSM359788 |
1333 | S>Y | lung Congenital long QT syndrome LQT3 and SIDS [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000183057 RCV000058626 rs199473226 VAR_074736 CA017738 RCV000456774 |
1334 | I>V | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA352147527 rs1343676000 RCV001843188 RCV002559848 |
1335 | M>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001842634 rs2061234219 |
1337 | V>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074737 CA017753 rs199473227 RCV000058627 |
1338 | L>V | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000802716 rs1559732656 RCV001258368 |
1339 | L>missing | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842357 RCV000058628 RCV000183058 rs199473605 COSM1327585 COSM1327584 CA017761 |
1340 | V>I | Cardiac arrhythmia ovary Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16611264 RCV000469265 rs1060501138 |
1342 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501138 RCV000806783 CA352147435 |
1342 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058629 CA017772 VAR_074424 rs199473228 |
1344 | F>L | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473229 CA017779 RCV000058630 VAR_026376 |
1344 | F>S | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473606 RCV000058631 CA017796 |
1345 | W>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074425 rs199473230 RCV000058632 CA017802 |
1346 | L>I | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074426 rs199473231 CA017808 RCV000058633 |
1346 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473607 CA017817 RCV000058634 |
1350 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074427 RCV000058635 CA017824 rs199473232 |
1351 | M>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001146613 VAR_074428 RCV001144670 RCV001842358 rs199473233 RCV001144669 RCV001146614 RCV001535662 COSM259087 RCV001144671 RCV000058636 RCV000183060 RCV001144668 CA017837 |
1353 | V>M | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 large_intestine Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2061232746 RCV001199000 |
1354 | N>KI | Sick sinus syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061232697 RCV002286835 RCV001312608 |
1355 | L>P | Brugada syndrome Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017845 RCV000617866 RCV000467827 rs370588133 RCV003150057 RCV001842920 RCV000987203 RCV000183061 |
1357 | A>V | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0003234 impact. Cardiomyopathy Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352147155 RCV000818188 rs1575725028 |
1358 | G>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074429 rs199473234 RCV000058637 CA017852 |
1358 | G>W | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA062799 rs758959053 RCV000468569 |
1359 | K>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199473235 CA017858 VAR_074430 RCV000058638 |
1359 | K>N | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001144664 RCV001150773 RCV001144665 RCV001144667 RCV001150774 rs758959053 RCV001144666 |
1359 | K>T | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058639 CA017864 rs199473236 VAR_074431 |
1360 | F>C | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2061231963 RCV001843294 |
1362 | R>K | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058641 rs199473237 CA017882 VAR_074432 |
1363 | C>Y | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001843061 rs369411869 |
1364 | I>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA72944803 rs369411869 RCV001840990 RCV001323470 |
1364 | I>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2061231549 RCV001312327 |
1367 | T>P | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183062 RCV000405846 RCV000335685 RCV000348096 CA017888 RCV000339126 RCV000378367 RCV001842921 rs775485359 RCV000309516 RCV000286480 |
1370 | D>G | Cardiac arrhythmia Progressive familial heart block, type 1A Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001224236 rs2061230986 |
1377 | I>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748312802 RCV001842962 RCV000208068 CA062884 |
1378 | V>M | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061230660 RCV001045326 |
1379 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068890 RCV000618968 RCV000496602 RCV000183164 rs794728922 |
1380 | N>missing | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473238 RCV000058642 CA017900 |
1380 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061230576 RCV001051158 |
1381 | K>E | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017913 RCV000058643 VAR_026377 rs199473608 |
1382 | S>I | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000700264 RCV000498546 rs1553695282 CA352146716 RCV002329182 |
1383 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000627128 CA352146596 rs1553695261 |
1390 | T>A | Variant assessed as Somatic; impact. Primary familial dilated cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000618900 RCV001842939 RCV000183189 RCV003147382 CA017925 RCV002485221 rs780405533 RCV000471648 |
1391 | G>R | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001843057 rs2061229662 |
1392 | E>G | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003128592 RCV002327048 CA338535 rs863224532 RCV000199303 |
1394 | Y>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553695248 RCV000620791 RCV000686756 CA352146506 |
1394 | Y>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051667 rs2061229370 |
1395 | W>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843293 rs2061229270 |
1395 | W>R | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514446 RCV002512953 RCV000009967 |
1397 | K>missing | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000479877 rs1064796233 RCV001380691 |
1400 | V>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_026378 rs199473239 RCV000058646 CA017955 |
1405 | V>L | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074433 rs199473239 RCV000058645 CA017946 COSM1485141 COSM446443 |
1405 | V>M | Brugada syndrome Variant assessed as Somatic; impact. breast BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000183063 CA017969 RCV001842359 rs199473609 VAR_074434 RCV000058648 |
1406 | G>E | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; impact. BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA017960 rs199473240 RCV001843162 RCV000058647 VAR_026379 |
1406 | G>R | Brugada syndrome Variant assessed as Somatic; impact. Cardiac arrhythmia BRGDA1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP UniProt |
|
RCV001049220 rs2061228286 |
1407 | A>G | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009996 RCV002496318 RCV000058649 RCV000009995 rs137854612 RCV002326672 RCV000183190 CA017985 RCV000009997 VAR_017681 |
1408 | G>R | Conduction system disorder Brugada syndrome Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) SSS1 and BRGDA1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058650 CA017997 VAR_074435 rs199473610 |
1409 | Y>C | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058651 VAR_074436 COSM228916 CA018010 rs199473241 |
1412 | L>F | Brugada syndrome skin BRGDA1; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000804839 rs1575719854 CA352145646 RCV002332641 |
1417 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018037 rs199473242 RCV000058652 VAR_074437 |
1419 | K>E | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058653 VAR_074438 rs199473611 CA018042 |
1420 | G>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058654 rs199473243 CA018048 |
1420 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000010006 CA018056 rs137854620 |
1421 | W>* | Brugada syndrome 1 Brugada syndrome 1 (brgda1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000333482 RCV000375017 RCV000208284 RCV000278247 RCV000385583 rs746291609 RCV000318130 CA088295 RCV000276067 RCV000274848 |
1423 | D>N | Brugada syndrome Progressive familial heart block Congenital long QT syndrome Long QT syndrome Primary dilated cardiomyopathy Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001310046 rs2061175762 |
1423 | D>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058655 CA018068 rs199473244 VAR_074439 |
1427 | A>S | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA018074 RCV000987202 RCV000155812 RCV000199660 RCV001842488 RCV000183069 rs200034939 |
1428 | A>S | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199473612 VAR_074440 RCV000058656 CA018079 |
1428 | A>V | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1226701514 RCV001146490 CA352145555 RCV001146494 RCV001146493 RCV001146491 RCV001841913 RCV001146492 RCV001146495 |
1431 | S>C | Cardiac arrhythmia Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199473245 RCV000058657 VAR_055192 CA018087 |
1432 | R>G | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058658 CA018093 RCV000414661 RCV001842360 RCV000817062 CA352145549 VAR_074441 rs199473246 |
1432 | R>S | Brugada syndrome Cardiac arrhythmia Congenital long QT syndrome BRGDA1 and LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000058659 CA018099 VAR_074442 rs199473247 |
1433 | G>V | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002282449 CA72943370 rs888787757 RCV001066394 |
1434 | Y>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2061164431 RCV001053971 |
1437 | Q>E | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018135 rs199473248 RCV000058660 VAR_055193 |
1438 | P>L | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000735255 rs1559729142 CA352145501 |
1438 | P>S | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352145494 RCV001841900 RCV002534070 rs1350022850 |
1439 | Q>R | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199473249 CA018141 RCV000246368 RCV000058661 VAR_074443 |
1441 | E>Q | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000819493 rs1575718424 CA352145464 |
1443 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823473 rs1473144775 RCV001508491 RCV000620646 RCV001841806 CA352145466 |
1443 | N>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA063134 RCV002559123 RCV001840989 rs754733108 |
1445 | Y>H | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002490659 CA018152 RCV003137599 RCV000151779 RCV001842361 VAR_074444 rs199473250 RCV000058662 RCV000252530 |
1448 | I>L | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001192712 rs199473251 CA018157 VAR_074445 RCV000058663 |
1448 | I>T | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000183070 rs199473613 CA018163 RCV000058664 VAR_074446 |
1449 | Y>C | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074447 rs199473252 CA018169 RCV000058665 |
1451 | V>D | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA10576614 RCV000219680 rs876657996 RCV001853485 RCV001842984 |
1451 | V>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000058667 VAR_068336 RCV000183071 rs199473253 CA018188 |
1458 | S>Y | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001842363 RCV000058668 VAR_074448 CA018194 rs199473614 |
1463 | N>Y | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1559728884 CA352145304 RCV001868298 RCV000678962 |
1465 | F>L | Brugada syndrome Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728882 RCV000183073 CA018207 RCV001842922 |
1466 | I>T | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000183072 rs794728881 RCV002298511 CA018201 |
1466 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728883 CA018220 RCV000183074 RCV001842923 RCV000457728 RCV003165396 RCV002503713 |
1468 | V>A | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_074449 RCV000058669 rs199473254 CA018214 |
1468 | V>F | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000183075 RCV001842924 CA018232 RCV002516921 rs794728884 |
1470 | I>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061161845 RCV001219700 |
1470 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074738 RCV000058670 rs199473255 CA018236 |
1472 | N>S | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058672 rs199473256 VAR_055194 CA018247 |
1473 | F>C | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473256 RCV000058671 CA018241 |
1473 | F>S | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_026380 | 1479 | K>del | BRGDA1 [UniProt] | Yes | UniProt |
|
rs2061149646 RCV001205011 |
1480 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473257 VAR_068337 RCV000058673 CA018265 |
1481 | G>E | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058674 VAR_055195 rs199473615 CA018277 |
1486 | F>L | SUDDEN INFANT DEATH SYNDROME LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000797581 RCV001842364 VAR_074739 RCV002490660 CA018283 RCV002223185 rs199473258 RCV000058675 |
1487 | M>L | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA352144349 rs199473259 RCV000790457 |
1488 | T>K | Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074740 rs199473259 RCV000058676 CA018296 |
1488 | T>R | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473616 CA018302 RCV001248234 VAR_074741 RCV000058677 RCV000454661 |
1489 | E>D | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA352144330 rs1559727990 RCV000678926 |
1491 | Q>* | Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000208493 rs869025522 |
1493 | K>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000619395 RCV001842365 RCV000058678 CA018316 RCV000638673 rs199473260 RCV000171569 RCV001508490 VAR_074742 RCV001542741 |
1493 | K>R | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Atrial fibrillation Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs199473261 CA018323 VAR_055196 RCV000058679 |
1494 | Y>N | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473262 RCV001314808 CA018330 RCV000058680 VAR_074743 RCV000183079 |
1495 | Y>S | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs199473263 RCV000058682 RCV000183196 RCV000548196 CA018346 RCV000619022 VAR_074744 |
1498 | M>T | Brugada syndrome Congenital long QT syndrome found in a patient with long QT syndrome; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473264 RCV000483937 VAR_074745 CA018339 RCV000058681 |
1498 | M>V | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001233367 CA16617944 rs1064793262 RCV000481444 |
1499 | K>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058683 RCV000705459 VAR_008957 CA018351 rs199473265 RCV002223785 |
1500 | K>N | Brugada syndrome Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_026381 | 1500 | K>del | BRGDA1 [UniProt] | Yes | UniProt |
|
RCV002222512 RCV000457826 CA16611376 rs1060501132 |
1501 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000756618 RCV001201272 RCV003162459 rs199473266 RCV000472311 VAR_009936 RCV000058684 CA018357 RCV001842366 RCV000709759 |
1501 | L>V | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long QT syndrome LQT3 and BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1230010586 CA352144255 RCV000678946 |
1502 | G>D | Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA018370 RCV000058685 rs199473267 VAR_026382 |
1502 | G>S | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002336210 CA018376 RCV000058686 rs199473342 |
1503 | S>P | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473268 CA018404 RCV000058687 VAR_074746 |
1505 | K>N | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000638708 CA352144241 RCV002334097 rs1278221673 |
1505 | K>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_001576 | 1505 | K>del | LQT3 [UniProt] | Yes | UniProt |
|
RCV001843258 rs2061147191 |
1506 | P>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766554531 RCV000208501 CA063286 |
1506 | P>L | Arrhythmogenic right ventricular cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001261991 rs2061147191 RCV002541584 |
1506 | P>S | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183165 RCV002336463 RCV000461009 RCV000009962 rs397514251 |
1507 | Q>missing | Brugada syndrome Long QT syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_055197 | 1507 | Q>del | LQT3 [UniProt] | Yes | UniProt |
|
rs763373788 RCV001202298 |
1509 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705807 rs1559727734 |
1511 | P>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001811488 rs368219299 RCV002334491 RCV000797234 CA063309 |
1512 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841232 COSM1317120 VAR_017682 rs137854602 RCV000058688 RCV000222521 RCV000009977 RCV000157490 RCV000456844 CA018413 COSM145913 |
1512 | R>W | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy Brugada syndrome 1 Brugada syndrome 1 (brgda1) haematopoietic_and_lymphoid_tissue BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke [ClinVar, NCI-TCGA, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001342412 CA063414 rs373404919 RCV002224069 |
1515 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061100667 RCV001069210 |
1516 | K>N | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1322825102 CA352144136 RCV001258151 RCV000690633 |
1519 | G>D | Brugada syndrome Variant assessed as Somatic; impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs199473642 CA018419 RCV000058689 |
1520 | F>L | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018424 rs199473617 VAR_074450 RCV000058690 |
1521 | I>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs777254969 RCV001843083 CA063429 RCV001373253 |
1523 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000483257 CA16617943 RCV001856817 rs369087645 |
1524 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
VAR_074451 RCV000058691 CA018432 rs199473269 |
1525 | V>M | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
VAR_055198 RCV000058692 rs199473270 CA018442 |
1527 | K>R | Brugada syndrome BRGDA1; asymptomatic patient; associated with P-1569 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001841188 RCV001222404 rs760226765 |
1529 | A>D | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001842523 rs199473618 RCV001852080 CA018456 RCV000171698 |
1532 | V>F | Cardiac arrhythmia Brugada syndrome Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000148850 VAR_074747 RCV002336211 rs199473618 RCV000183081 RCV000058693 CA018450 RCV001842367 RCV001725963 RCV000536644 RCV000987201 |
1532 | V>I | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000853601 CA352144040 rs1575712112 |
1534 | I>S | Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214499 rs2061099011 RCV002339559 RCV002223285 |
1539 | C>F | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339646 RCV001235089 CA063471 RCV003224534 rs770780069 |
1539 | C>Y | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002334265 RCV001700449 rs551383710 RCV000687880 RCV001841856 CA72942476 |
1543 | V>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001841110 rs2061098471 |
1544 | T>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301514 rs2061098420 |
1545 | M>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036799 rs2061098145 |
1548 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058694 rs199473271 CA018462 VAR_074452 |
1548 | E>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs2061098103 RCV001327192 |
1549 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706176 rs1559725687 |
1553 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058695 rs199473272 CA018469 |
1553 | S>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559725648 RCV002334378 RCV000704447 CA352143870 |
1558 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002336581 rs779999584 CA063509 RCV000208114 RCV001842963 RCV002288835 RCV000797749 |
1559 | I>V | Cardiac arrhythmia Brugada syndrome Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA018476 rs199473619 RCV000058696 VAR_074748 |
1560 | L>F | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001309526 rs2061096389 |
1566 | L>Q | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473273 VAR_055199 CA018491 RCV000058697 |
1569 | A>P | Brugada syndrome BRGDA1; asymptomatic patient; associated with R-1527 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074453 CA018496 RCV000058698 rs199473274 |
1571 | F>C | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_085793 CA352143788 rs1369632373 RCV001030819 |
1571 | F>L | Brugada syndrome BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs199473620 CA352143768 RCV000853198 RCV001842017 |
1574 | E>* | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074454 rs199473620 RCV000058699 RCV002336212 CA018503 |
1574 | E>K | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002339481 RCV001841136 rs1343260267 CA352143761 |
1575 | C>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553693632 CA352143758 RCV001841834 RCV000638684 |
1575 | C>Y | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349526 CA352143746 rs1431370925 |
1577 | V>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs879102447 CA352143720 RCV001840975 RCV002560897 |
1581 | A>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199473275 VAR_074455 CA018511 RCV000058700 |
1582 | L>P | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058701 RCV000154836 RCV001842368 RCV001289206 CA018516 rs45514691 VAR_074456 |
1583 | R>C | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA018522 rs199473621 VAR_074457 RCV000413021 RCV000058702 RCV000455572 |
1583 | R>H | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA279603 RCV000201896 rs863225273 |
1591 | W>* | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1559725364 CA352143646 RCV000707672 |
1592 | N>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473276 CA018537 VAR_074749 RCV000058703 |
1593 | I>M | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs199473277 RCV000058704 CA018543 VAR_074750 |
1594 | F>S | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001383199 RCV003156212 RCV000010009 RCV000058706 rs137854607 RCV001258074 CA018558 |
1595 | D>H | Brugada syndrome Brugada syndrome 1 Primary dilated cardiomyopathy Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001329632 RCV000009983 RCV000183084 RCV000058705 rs137854607 VAR_017683 RCV000469185 CA018551 |
1595 | D>N | Progressive familial heart block, type 1A Brugada syndrome Atrioventricular block Atrial fibrillation, familial, 10 PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074751 rs199473278 RCV000229703 CA018565 RCV000247337 RCV000183085 RCV000765734 RCV000766805 RCV001150546 RCV001842369 RCV000058707 RCV000779406 RCV003149713 |
1596 | F>I | Cardiac arrhythmia Brugada syndrome Cardiomyopathy Congenital long QT syndrome Brugada syndrome 1 Sick sinus syndrome 1 SCN5A-Related Disorders LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA018571 RCV002504974 RCV000058708 rs199473279 RCV001327007 |
1597 | V>M | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1441099546 RCV000814836 RCV002336688 CA352143580 |
1603 | I>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1441099546 RCV001316489 |
1603 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058709 rs199473280 RCV001328334 VAR_074458 RCV001842370 CA018577 |
1604 | V>M | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001842729 CA063800 RCV002339446 RCV001224167 rs199473622 RCV001566400 |
1609 | S>L | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000058712 rs199473622 CA018618 VAR_036667 |
1609 | S>W | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001044883 CA352143137 rs1162100839 |
1611 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000685065 rs1553693063 RCV000786218 CA352143128 RCV000618724 |
1612 | I>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018630 VAR_074459 rs199473281 RCV000058713 |
1613 | Q>L | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000195716 rs863224533 CA335886 |
1615 | Y>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002336464 RCV000240624 RCV000183166 RCV001842934 rs749697698 RCV001836637 RCV000474854 RCV000208172 RCV002500545 |
1617 | F>missing | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Long QT syndrome Sick sinus syndrome 1 Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_055200 | 1617 | F>del | LQT3 and BRGDA1 [UniProt] | Yes | UniProt |
|
rs1575706847 RCV000850238 |
1619 | P>missing | Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317461 CA352143076 RCV001843107 rs771209646 |
1619 | P>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473282 VAR_055201 RCV001383198 CA018648 RCV000058714 |
1620 | T>K | Conduction system disorder Brugada syndrome Brugada syndrome 1 (brgda1) LQT3 and PFHB1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs199473282 VAR_017684 CA018653 RCV002477202 RCV001842371 RCV000058715 RCV000144031 RCV000009965 RCV001836727 |
1620 | T>M | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs137854613 RCV000183087 RCV000009968 RCV000622049 RCV000477950 CA018662 RCV001841231 RCV001055137 RCV002496317 RCV000465149 |
1623 | R>* | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Brugada syndrome 1 Sick sinus syndrome 1 Familial isolated arrhythmogenic right ventricular dysplasia Long qt syndrome 3 (lqt3) Sick sinus syndrome 1 (sss1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA018677 RCV001258376 rs137854600 VAR_009937 RCV000058717 |
1623 | R>L | Long QT syndrome 3 Congenital long QT syndrome Long qt syndrome 3 (lqt3) LQT3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058716 RCV000009970 RCV001588806 RCV000820240 CA018670 rs137854600 VAR_001578 RCV000009971 |
1623 | R>Q | Long QT syndrome 3/6, digenic Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long qt syndrome 3 (lqt3) LQT3 and BRGDA1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001144344 RCV000183088 RCV001146240 RCV001319958 RCV001146241 rs794728888 CA018686 RCV001146242 RCV001144345 RCV001146243 |
1624 | V>I | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16611263 RCV000461353 RCV002496751 COSM1422779 rs918933961 RCV001841354 RCV003221986 COSM1422780 |
1626 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Brugada syndrome 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000183089 RCV001842372 RCV001036426 rs199473283 CA018698 VAR_074752 RCV000058718 RCV000252940 RCV000779405 |
1626 | R>H | Variant assessed as Somatic; 4.624e-05 impact. Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long qt syndrome 3 (lqt3) LQT3; unknown pathological significance [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473283 VAR_055202 RCV000058719 CA018703 |
1626 | R>P | Congenital long QT syndrome Long qt syndrome 3 (lqt3) LQT3; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001842650 rs2061039404 |
1628 | A>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473284 CA063905 RCV000442994 RCV000698724 RCV000250943 RCV000987200 |
1629 | R>* | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473284 CA018709 RCV000058720 |
1629 | R>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_074460 RCV000709763 COSM1422777 CA018714 RCV000058721 rs199473623 RCV000489058 COSM1422776 |
1629 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 large_intestine BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs199473285 RCV000058722 CA018729 |
1631 | G>D | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000431928 RCV002338764 RCV000233617 CA10582189 rs878855292 |
1632 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000058723 CA018735 rs199473286 RCV001258072 RCV001787861 RCV000519341 RCV001530198 RCV002336214 RCV000553192 |
1632 | R>H | Conduction system disorder Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 Sick sinus syndrome 1 SUDDEN INFANT DEATH SYNDROME [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001751429 RCV001222435 rs2061038708 RCV001841189 |
1633 | I>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066521 rs761505217 CA063937 RCV002343179 RCV000627225 |
1638 | R>* | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1016091566 RCV001303542 CA72938309 |
1640 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA018747 VAR_074461 rs199473624 RCV000058724 RCV003128576 RCV000619189 RCV000999577 |
1642 | G>E | Brugada syndrome Sudden unexplained death BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001383578 CA018754 RCV002336215 RCV000058725 VAR_055203 rs199473287 |
1644 | R>C | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome LQT3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000246905 rs28937316 CA018760 VAR_001579 RCV002307360 RCV000009963 COSM187289 RCV000472863 RCV000183090 RCV000058726 |
1644 | R>H | Brugada syndrome Long QT syndrome 3 large_intestine Congenital long QT syndrome Variant assessed as Somatic; impact. Long QT syndrome Long qt syndrome 3 (lqt3) LQT3 [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473288 VAR_008958 RCV001842373 RCV000058727 CA018766 RCV000546216 RCV000183091 |
1645 | T>M | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001349115 rs2061037463 |
1647 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242114 RCV000477850 rs1060499611 CA16616905 |
1647 | L>P | Brugada syndrome Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018777 VAR_055204 rs199473289 RCV000058728 |
1649 | A>V | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058729 rs199473290 VAR_074753 CA018781 RCV002513767 |
1650 | L>F | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_055205 rs199473291 RCV000058731 CA018799 |
1652 | M>R | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199473291 RCV000058730 CA018793 VAR_074754 |
1652 | M>T | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2061036856 RCV001843266 |
1659 | N>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018806 RCV001055657 RCV000183093 rs199473625 RCV000618797 RCV001842374 VAR_055206 RCV000058732 RCV002054906 |
1660 | I>V | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Dilated cardiomyopathy 1E BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000183094 RCV000554082 CA018812 VAR_074462 CA018819 RCV000058733 rs199473292 |
1661 | G>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001842375 VAR_068338 RCV001345002 RCV000190217 RCV002336216 RCV000058734 CA018825 rs199473293 RCV000523560 |
1667 | V>I | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Long QT syndrome LQT3 and BRGDA1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV001843111 rs757812276 CA064059 |
1668 | M>T | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001231717 rs866160560 CA72938220 |
1669 | F>L | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_074463 CA018848 RCV000058736 rs199473626 |
1672 | S>Y | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA064068 COSM126041 RCV000425966 rs764782158 RCV001372818 |
1676 | M>I | upper_aerodigestive_tract Brugada syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756946727 RCV001841138 RCV002560108 CA064075 |
1678 | N>S | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA018863 VAR_074464 RCV000183098 RCV000058737 RCV001842377 RCV000766807 RCV000621882 rs199473294 RCV000171771 |
1680 | A>T | Cardiac arrhythmia Brugada syndrome Sudden cardiac death BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA064087 rs764011043 RCV001304290 |
1681 | Y>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA064098 rs775538425 RCV001253484 RCV001066798 |
1689 | D>N | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1E [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001563510 RCV002334260 RCV000687207 rs773422233 |
1690 | D>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000455733 RCV001841342 CA16609724 VAR_076557 RCV000532378 rs1060499900 |
1690 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; dominant negative effect; no effect on voltage dependence for activation and inactivation [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000497811 VAR_074465 RCV000058738 CA018875 rs199473295 |
1698 | A>T | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000492065 CA064131 RCV001247924 rs769843988 |
1701 | M>I | Brugada syndrome Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002343555 CA352142323 RCV000704611 rs1559721808 |
1704 | L>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199473627 VAR_055207 RCV000058739 CA018886 |
1705 | F>S | SUDDEN INFANT DEATH SYNDROME SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA018890 rs199473296 RCV000058740 |
1706 | Q>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018904 RCV001842378 VAR_074466 RCV000617525 RCV000183101 RCV000058742 rs199473297 |
1709 | T>M | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000058741 CA018895 VAR_074467 rs199473297 |
1709 | T>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs137854604 RCV002504774 RCV000183102 RCV000009981 RCV001841234 RCV000246596 CA018910 RCV000531013 VAR_017685 RCV000197520 RCV000058743 COSM1422771 COSM1422770 |
1710 | S>L | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Ventricular fibrillation VF1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000009976 rs397514448 |
1711 | A>missing | Heart block, nonprogressive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477203 rs199473298 VAR_074468 RCV000058744 CA018920 |
1712 | G>S | Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA018933 RCV000523513 RCV000058745 rs199473628 VAR_026383 |
1714 | D>G | Brugada syndrome BRGDA1; strong decrease of current density; does not affect ion selectivity properties [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs794728894 RCV001852346 RCV001842925 CA018938 RCV000183105 |
1715 | G>A | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001841020 CA72938090 rs752995885 |
1716 | L>F | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061032297 RCV001254763 |
1718 | S>N | Ventricular tachycardia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074469 CA018943 rs199473299 RCV001753476 RCV000058746 |
1722 | N>D | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000454385 RCV000183106 RCV000058747 CA018948 rs199473300 VAR_074755 RCV001325059 |
1723 | T>N | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs199473301 RCV000058748 RCV001842379 CA018953 RCV001529380 RCV001854224 |
1725 | P>L | Variant assessed as Somatic; 0.0001387 impact. Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
VAR_074470 rs199473302 RCV000058749 CA018958 |
1728 | C>R | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074471 RCV000058750 CA018961 rs193922726 |
1728 | C>W | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1044242 RCV000462910 RCV002492817 CA018973 RCV001842926 COSM1154150 RCV000183107 rs763880032 RCV002336462 |
1729 | D>N | Cardiac arrhythmia Brugada syndrome endometrium Brugada syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA064236 RCV001212339 RCV001842640 rs773130164 |
1737 | G>D | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000461887 rs786205271 CA018989 RCV001842522 RCV000855502 RCV000171697 |
1738 | S>F | Fetal akinesia deformation sequence 1 Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001059806 RCV001842521 CA019000 RCV002345581 RCV000171696 rs200217157 |
1739 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA018994 rs199473303 RCV000545771 VAR_074756 RCV001842380 RCV000762372 RCV000058751 RCV000824908 |
1739 | R>W | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Sick sinus syndrome 1 LQT3; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199473304 VAR_026384 CA019005 RCV000058752 |
1740 | G>R | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002348582 RCV001150436 rs746418124 RCV001150437 RCV001150432 RCV001150434 RCV001150435 RCV001150433 CA064269 |
1741 | D>N | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001699030 CA019022 VAR_026385 RCV000058754 rs199473629 |
1743 | G>E | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM730978 rs199473305 CA019015 RCV002336217 RCV002498345 VAR_055208 COSM1149727 RCV000058753 RCV000183109 RCV001262495 |
1743 | G>R | lung Brugada syndrome Brugada syndrome 1 BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV001841038 RCV001323512 rs199473306 |
1746 | A>P | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019035 RCV000058755 rs199473306 |
1746 | A>T | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs778236407 RCV000534188 CA064275 |
1746 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001843235 rs2061029171 |
1747 | V>G | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019040 COSM1422768 RCV001823715 COSM1422767 RCV001842381 RCV000058756 RCV000621542 RCV000183111 rs199473630 RCV000638686 |
1747 | V>M | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Congenital long QT syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_076558 | 1748 | G>D | BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; dominant negative effect; changed voltage dependence for activation and inactivation [UniProt] | Yes | UniProt |
|
RCV000227532 CA10582187 rs878855294 |
1754 | T>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1325549884 CA352141697 RCV001841937 RCV001045758 RCV002343626 |
1758 | I>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000845507 rs1575705549 |
1758 | I>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559721331 RCV000692545 CA352141667 |
1760 | F>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058758 VAR_074757 rs199473307 CA019050 |
1761 | L>F | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058759 rs199473308 VAR_074758 CA019056 |
1761 | L>H | Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058760 RCV001854225 CA019062 rs199473631 VAR_055209 RCV000183112 RCV001787862 |
1763 | V>M | Brugada syndrome Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074472 rs199473309 CA019066 RCV000058762 |
1764 | V>F | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000620538 RCV001205941 CA352141596 rs1553692822 |
1766 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752476527 RCV000183113 CA019080 RCV001046422 RCV001199319 |
1766 | M>K | Brugada syndrome Sick sinus syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000058763 RCV000515650 CA019076 rs199473310 VAR_055210 CA352141606 |
1766 | M>L | Long QT syndrome 3 Congenital long QT syndrome LQT3; affects protein trafficking [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs752476527 CA064298 RCV002568743 RCV001254760 |
1766 | M>T | Brugada syndrome Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352141607 RCV002350247 rs199473310 RCV000559094 |
1766 | M>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002513768 rs199473632 CA019087 RCV000058765 VAR_074759 |
1767 | Y>C | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000660252 RCV000183198 RCV000058766 RCV000620629 VAR_055211 RCV000537403 rs199473311 CA019094 |
1768 | I>V | Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001047137 RCV001759971 rs2061027256 |
1772 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058767 CA019110 rs199473312 |
1772 | L>V | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061027042 RCV001841101 |
1774 | N>missing | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019117 RCV000058768 rs199473633 |
1774 | N>D | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058769 CA019124 rs199473313 |
1774 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_055212 RCV000058770 RCV000638654 RCV000183114 RCV001842383 rs199473314 CA019129 |
1777 | V>M | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000469805 RCV001146115 RCV001146116 RCV000058771 RCV000183115 RCV000617171 RCV001146113 RCV000148849 VAR_068339 rs199473634 CA019134 RCV001146112 RCV001842384 RCV001146114 RCV000786219 RCV001146117 |
1779 | T>M | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Long QT syndrome Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E LQT3 and BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA352141392 rs1217594631 RCV001037755 RCV002346249 |
1781 | E>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2061025611 RCV001842702 |
1784 | E>D | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001813738 RCV000824758 CA019148 RCV000009972 RCV000245905 rs137854601 RCV000183117 RCV000058773 VAR_008959 RCV000208193 RCV000009974 RCV000009973 RCV000588022 |
1784 | E>K | Long QT syndrome 1 Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Variant assessed as Somatic; impact. Long qt syndrome 1 (lqt1) Brugada syndrome 1 Sinus node disease Brugada syndrome 1 (brgda1) SCN5A-Related Disorders Long qt syndrome 3 (lqt3) LQT3 and BRGDA1 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886037903 RCV000240623 RCV001843012 RCV002518553 |
1786 | L>missing | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352141314 RCV000853606 rs199473315 |
1786 | L>P | Long QT syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002514293 RCV000058774 CA019153 rs199473315 |
1786 | L>Q | Brugada syndrome Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000693589 rs1559720961 |
1787 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001144218 RCV000058775 RCV001144221 RCV001083087 RCV000154835 RCV001144219 RCV000621224 RCV001842385 RCV001144220 RCV000148840 CA019158 VAR_009938 RCV000474591 RCV000987199 rs199473316 |
1787 | S>N | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Familial isolated arrhythmogenic right ventricular dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473317 CA019174 VAR_001580 RCV002513769 RCV000058776 |
1790 | D>G | Brugada syndrome Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002505644 rs772508476 RCV001065804 CA064352 |
1790 | D>N | Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA019179 VAR_068475 rs727504495 COSM1593706 RCV000766810 RCV000472453 RCV000155630 COSM84792 RCV001842486 |
1792 | D>N | Cardiac arrhythmia Brugada syndrome pancreas endometrium SSS1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA064366 RCV003224380 rs774917987 RCV000706121 |
1792 | D>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001294468 rs2061024332 |
1793 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061024277 RCV001058135 |
1794 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703095 rs1559720870 |
1794 | F>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009969 rs137854614 RCV001561910 CA019196 VAR_019123 RCV000058778 RCV002345237 RCV000698334 |
1795 | Y>C | Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Long qt syndrome 3 (lqt3) LQT3; also in a family associating LQT syndrome and atrial fibrillation; slows the onset of activation, but does not cause a marked negative shift in the voltage dependence of inactivation or affect the kinetics of the recovery from inactivation; increases the expression of sustained Na(+) channel activity and promotes entrance into an intermediate or slowly developing inactivated state [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_019124 CA019191 RCV000009999 RCV000058777 rs137854615 |
1795 | Y>H | Brugada syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1; accelerates the onset of activation and causes a marked negative shift in the voltage dependence of inactivation; does not affect the kinetics of the recovery from inactivation; increases the expression of sustained Na(+) channel activity and promotes entrance into an intermediate or slowly developing inactivated state [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_017686 | 1795 | Y>YD | LQT3 and BRGDA1; 7.3-mV negative shift of the steady-state inactivation curve and 8.1-mV positive shift of the steady-state activation curve; may reduce sodium current during the upstroke of the action potential [UniProt] | Yes | UniProt |
|
RCV000707669 CA352141228 rs1553692734 |
1796 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514449 RCV000009979 RCV000009980 RCV001530164 |
1796 | E>D | Long QT syndrome 3 Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477760 RCV001841905 rs1367727373 RCV001856058 CA352141178 |
1802 | D>E | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000256160 rs199473318 CA019212 RCV000058780 |
1802 | D>G | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002496750 rs1060501127 RCV000458951 RCV002348296 |
1806 | T>missing | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638740 rs1553692699 CA352141154 |
1806 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501145 CA16611373 RCV000458925 |
1810 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001372689 COSM1044235 RCV000183121 COSM1593708 CA019218 rs371891414 |
1812 | S>L | Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841199 rs2061022558 |
1815 | S>missing | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000058782 RCV000987198 VAR_036668 RCV001507624 RCV000171695 RCV000183199 RCV001841243 RCV002345238 CA019238 RCV000203774 RCV000010005 rs137854619 |
1819 | D>N | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 2/3, digenic LQT3; digenic; the patient also carries mutation G-100 on KCNH2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2061022221 RCV003163406 RCV002491518 RCV001842769 |
1819 | D>N | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345637 rs764188413 RCV002492821 RCV000183200 CA019251 |
1820 | A>T | Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000518855 rs1553692660 RCV000812319 |
1821 | L>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183167 rs794728924 RCV000242251 RCV000525938 |
1823 | E>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231038 RCV002347919 CA064452 RCV002494672 RCV001550377 RCV001843006 rs760837591 |
1823 | E>K | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000058783 rs199473319 CA019262 |
1824 | P>A | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002348667 rs2061021652 RCV001205077 |
1824 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_055213 CA019266 RCV000058784 rs79299226 |
1825 | L>P | Acquired long QT syndrome LQT3; drug-induced LQT syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000058785 RCV001842386 VAR_055214 COSM3783709 rs199473635 COSM3783711 RCV000183122 RCV000540654 CA019274 |
1826 | R>C | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Atrial fibrillation prostate ATFB10 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000154827 RCV000619902 rs137854610 RCV000766811 RCV002476953 VAR_017687 RCV001841236 RCV000148848 RCV000550842 RCV000058786 RCV000009987 CA019280 |
1826 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 SUDDEN INFANT DEATH SYNDROME Long qt syndrome 3 (lqt3) LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA019290 RCV002345636 RCV000183124 RCV001842927 rs774593360 RCV000477269 |
1828 | A>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001144110 RCV001146002 rs2061021014 RCV001144112 RCV001146001 RCV001144111 RCV001146000 |
1830 | P>T | Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062452 rs2061020838 |
1832 | Q>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000041628 VAR_074473 RCV000622807 rs199473320 CA019294 RCV001841611 RCV000058787 RCV000245837 RCV001507623 |
1832 | Q>E | Cardiac arrhythmia Brugada syndrome Long QT syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473320 RCV001057846 |
1832 | Q>K | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053066 RCV001593223 rs1239786884 CA352140983 |
1833 | I>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA352140988 RCV002343561 RCV000705369 rs1559720461 |
1833 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019303 RCV001084744 VAR_074474 RCV000212993 RCV000032640 rs45563942 RCV001841554 RCV000058788 RCV000621032 RCV000148847 |
1836 | I>T | Cardiac arrhythmia Brugada syndrome Primary dilated cardiomyopathy Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841960 rs1559720415 CA352140951 |
1838 | M>K | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058789 VAR_001581 rs199473321 CA019309 |
1839 | D>G | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001226233 rs2061020194 |
1839 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300003 RCV001144107 RCV001144105 RCV001144106 RCV001144108 rs368967393 CA064500 RCV001144109 RCV001150247 |
1842 | M>L | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001841889 CA352140921 rs1559720356 |
1843 | V>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000233838 rs794728916 RCV000183157 |
1844 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA064515 RCV001841398 RCV000587038 rs768246863 RCV000541591 |
1847 | R>C | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002476381 rs768246863 RCV001297021 |
1847 | R>G | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001841612 RCV000498301 COSM1131464 RCV000638703 CA019325 rs369058100 COSM3408642 RCV001753453 RCV000041629 |
1847 | R>H | Cardiac arrhythmia Brugada syndrome central_nervous_system Brugada syndrome 1 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001345827 rs369058100 |
1847 | R>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227611 RCV000250980 CA019336 VAR_076559 rs794728898 |
1849 | H>R | Brugada syndrome LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_055215 RCV000620860 CA019342 rs199473322 RCV000058791 |
1850 | C>S | Brugada syndrome BRGDA1; decreased I(Na) density; shift of the steady-state inactivation towards negative potentials [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001842775 rs2061019005 |
1851 | M>K | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1348016844 RCV002350547 RCV001302484 |
1853 | I>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061018536 RCV001843176 |
1859 | K>R | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056733 RCV002343624 rs1559720220 CA352140766 RCV001841896 |
1860 | R>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061018431 RCV001843179 |
1860 | R>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473636 RCV000058793 VAR_074475 CA019353 |
1861 | V>I | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs2061018181 RCV001222345 |
1863 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501129 RCV000467388 CA16611370 |
1864 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019360 RCV000687549 CA352140719 RCV000620366 RCV000183127 rs794728899 |
1864 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060501129 RCV001842766 RCV001875933 |
1864 | E>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559720176 RCV000694484 CA352140691 |
1867 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019374 RCV002345513 RCV000156069 RCV001302705 rs727504759 |
1870 | A>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002345638 RCV000706147 rs794728939 RCV001842940 CA019366 |
1870 | A>T | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA019389 RCV000058795 rs199473323 VAR_074476 |
1872 | K>N | Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1183206935 RCV001351364 CA352140592 |
1874 | Q>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002466547 RCV002343173 rs1474459822 RCV000624731 |
1875 | M>missing | Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_055216 RCV000183128 rs199473324 RCV000058796 CA019394 RCV002513770 |
1875 | M>T | Brugada syndrome Atrial fibrillation atrial fibrillation; pronounced depolarized shift of the voltage dependence of steady-state inactivation; no persistent sodium current [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001296093 rs2061017114 RCV002480950 |
1876 | E>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002290656 rs2061016986 RCV001240565 |
1877 | E>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352140486 rs1414155457 RCV001337993 |
1882 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA064584 RCV002350145 RCV001841409 rs755162776 RCV000520769 RCV000812516 |
1884 | P>L | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000556294 CA72937852 rs1038605800 |
1889 | Y>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002348141 CA064595 RCV000417309 RCV001841281 rs766875593 RCV001070122 RCV000521858 |
1890 | E>K | Cardiac arrhythmia Brugada syndrome Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730880208 RCV000157491 RCV000794958 CA019410 |
1891 | P>A | Brugada syndrome Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1575704094 RCV000822804 |
1892 | I>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843232 CA064606 rs773829094 |
1895 | T>I | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000622063 RCV001841360 RCV002496752 CA064637 rs761369505 RCV000465773 |
1897 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000058797 VAR_074760 RCV000852547 RCV000825448 RCV000987197 RCV000231226 RCV000765733 rs45465995 CA353758 RCV000148859 RCV001842389 |
1897 | R>W | Cardiac arrhythmia Brugada syndrome Long QT syndrome Brugada syndrome 1 Primary dilated cardiomyopathy LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
CA064645 RCV000801579 RCV001841789 RCV001148680 RCV000619017 RCV001148681 rs373118001 RCV001148679 RCV001701400 RCV000987196 RCV001148682 RCV001148683 |
1898 | R>C | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000767135 rs370694515 RCV000797409 CA064651 RCV000247589 RCV001842945 RCV000466757 RCV000234809 RCV000216249 |
1898 | R>H | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Familial isolated arrhythmogenic right ventricular dysplasia Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473325 RCV000058800 CA019426 RCV001842392 RCV001854226 COSM1044229 COSM1593712 VAR_074477 |
1901 | E>K | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_074761 rs199473325 RCV000797132 RCV000058801 RCV002490662 CA019431 |
1901 | E>Q | Brugada syndrome Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553692534 RCV001312676 RCV001843200 |
1902 | E>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000203839 CA348136 rs864622270 RCV001762434 RCV001842955 VAR_074478 |
1903 | V>L | Cardiac arrhythmia Brugada syndrome BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_055217 RCV000041630 RCV000234983 RCV000058802 RCV000987195 RCV001083009 RCV001841613 CA019439 RCV000620507 rs150264233 RCV000148839 |
1904 | S>L | Cardiac arrhythmia Brugada syndrome Long QT syndrome Brugada syndrome 1 LQT3; promotes late sodium currents by increasing the propensity of the channel to reopen during prolonged depolarization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs150264233 RCV001221455 |
1904 | S>W | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558850 CA72937834 rs923779348 RCV001842686 |
1906 | M>V | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000244977 RCV000058803 RCV001239705 rs199473326 VAR_068340 RCV000183131 CA019443 RCV001842393 |
1909 | Q>R | Cardiac arrhythmia Brugada syndrome Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1060501144 CA16611258 RCV000466819 RCV002348297 |
1910 | R>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM268150 RCV000183104 CA019448 RCV000765732 rs199473327 RCV001202604 VAR_074762 RCV000058804 RCV000618126 |
1913 | R>H | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs766751878 RCV000183132 CA019452 RCV001842928 |
1914 | R>G | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001843178 rs2061014141 |
1914 | R>S | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343252 rs1314879329 CA352140100 RCV000638746 RCV001841842 RCV001811131 |
1915 | H>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002348619 CA064745 RCV001876115 rs762462124 RCV001843180 |
1915 | H>Y | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA064751 RCV002348848 RCV001841196 RCV001249003 rs765713843 RCV002224040 |
1917 | L>P | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000234019 CA10582186 rs878855295 |
1918 | Q>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001145899 RCV001148676 RCV001145900 RCV001148678 RCV001148677 rs199473328 RCV001842394 RCV002271396 CA019455 RCV000804932 RCV000621182 RCV000058805 VAR_074479 RCV001145898 |
1919 | R>C | Cardiac arrhythmia Progressive familial heart block, type 1A Variant assessed as Somatic; 9.284e-05 impact. Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001842721 CA064762 RCV002558871 RCV002348606 rs141107387 |
1919 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs141107387 RCV001843285 |
1919 | R>P | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061013560 RCV001843110 |
1920 | S>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1485680130 RCV001216826 CA352140032 RCV002356923 |
1922 | K>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA064781 rs775091232 RCV001843138 RCV001876070 |
1923 | H>Y | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001841233 RCV000009978 RCV002251424 RCV000058806 rs137854603 RCV000420298 VAR_017688 CA019460 |
1924 | A>T | Cardiac arrhythmia Brugada syndrome Long QT syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) BRGDA1; significantly affect cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000460557 rs1060501149 CA16611454 |
1928 | F>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1224724151 CA352139966 RCV001295653 |
1928 | F>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs267599786 RCV001842422 CA064797 RCV000697344 |
1929 | R>C | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001842490 RCV000621933 RCV000531920 rs727504822 RCV002223795 COSM3380558 RCV000765731 RCV000156161 CA019464 COSM241530 |
1929 | R>H | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. pancreas large_intestine Brugada syndrome 1 prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2061012301 RCV001843187 |
1930 | Q>R | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211551 CA72937792 rs994269433 |
1932 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706860 RCV000852962 rs371194826 RCV001841875 CA064808 RCV000764501 RCV002352218 |
1932 | A>V | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Primary dilated cardiomyopathy Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000702446 RCV001145896 RCV001145897 RCV002352195 RCV001145893 RCV001145895 rs758704113 CA064833 RCV001143995 RCV001145894 |
1933 | G>V | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730880209 RCV002478472 CA019471 RCV000157492 |
1934 | S>N | Primary familial hypertrophic cardiomyopathy Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_055218 RCV000058807 RCV001842395 CA019483 RCV000764500 rs199473637 |
1935 | G>S | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs2061011355 RCV001256854 RCV002486000 |
1938 | E>D | Left ventricular noncompaction 1 Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199473329 CA019487 VAR_074480 RCV000058808 RCV001562116 RCV002498346 |
1938 | E>K | Brugada syndrome Brugada syndrome 1 BRGDA1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000658455 RCV001861699 rs1553692416 |
1942 | P>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553692410 CA352139796 RCV000638733 |
1943 | E>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000363289 RCV000812407 RCV000183202 RCV000844965 rs794728940 RCV002354485 RCV001842941 CA019491 |
1944 | R>* | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. SCN5A-Related Disorders SCN5A-related disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs767089602 RCV001841408 CA064872 RCV000520813 RCV002358403 RCV001046001 |
1944 | R>Q | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001253497 rs2061010663 |
1945 | E>missing | Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352139756 RCV000546660 rs1553692406 |
1947 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001545225 VAR_068341 CA019500 rs199473330 RCV000058809 |
1949 | A>S | Congenital long QT syndrome LQT3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001842929 CA019498 rs199473330 RCV000810984 RCV000183134 RCV002492818 |
1949 | A>T | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000195771 rs375614054 RCV000498992 RCV001842951 CA335923 |
1950 | Y>C | Cardiac arrhythmia Brugada syndrome Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000459605 rs1060501133 CA16611272 |
1950 | Y>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001841551 rs41315493 RCV000041632 RCV000058811 RCV001148562 RCV000157493 RCV001145802 RCV001148560 VAR_026386 RCV001148561 RCV000148837 RCV003149588 RCV001148564 RCV000030444 CA019509 RCV000852961 RCV000171770 RCV001148563 RCV000245882 |
1951 | V>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Cardiomyopathy Long QT syndrome 3 Atrial fibrillation Ventricular fibrillation, paroxysmal familial, type 1 Ventricular tachycardia Sick sinus syndrome 1 Brugada syndrome 1 Brugada syndrome 1 (brgda1) Long QT syndrome Dilated cardiomyopathy 1E Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) Long qt syndrome 2 (lqt2) BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000249083 RCV001148566 RCV001842396 RCV001210931 CA019505 RCV000183135 RCV001150127 RCV001150128 RCV001148565 COSM3823773 rs41315493 RCV001192713 RCV000208349 RCV001148567 COSM3823775 RCV000058810 RCV001150126 VAR_055219 |
1951 | V>M | Cardiac arrhythmia Progressive familial heart block, type 1A Long QT syndrome 2 Brugada syndrome Long QT syndrome 3 Atrial fibrillation Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) Dilated cardiomyopathy 1E breast Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) Long qt syndrome 2 (lqt2) ATFB10 [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002356835 rs781270220 RCV001842778 RCV002497628 CA72937741 |
1953 | S>N | Cardiac arrhythmia Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000241908 RCV000713148 RCV001841615 RCV000231684 CA019513 rs397517956 RCV000041633 |
1954 | E>K | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002354483 RCV000763107 CA019516 RCV001842930 RCV000183137 rs757532106 RCV000701051 |
1958 | R>* | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199473331 RCV000638665 CA352139611 |
1958 | R>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000148844 VAR_068342 RCV002354251 RCV001842397 RCV000212995 RCV000058812 CA019519 RCV001087675 rs199473331 RCV000987194 |
1958 | R>Q | Cardiac arrhythmia Brugada syndrome Long QT syndrome Brugada syndrome 1 found in a patient with long QT syndrome; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473638 RCV000058813 RCV001086830 RCV001841616 RCV000620208 RCV000041634 RCV001145796 RCV001145799 RCV001145801 RCV001145797 RCV001145800 VAR_074481 CA019523 RCV001145798 |
1962 | P>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000622156 rs756617804 RCV002531774 CA064954 |
1963 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000058814 rs199473332 CA019527 RCV001842398 |
1964 | S>F | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000845322 RCV001371023 rs1575703249 CA352139528 |
1966 | S>C | Conduction disorder of the heart Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_074482 RCV001842399 rs199473333 RCV000058816 CA019540 RCV000764499 RCV000535115 RCV000154831 |
1968 | I>M | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473639 VAR_055220 CA019536 RCV000058815 RCV002354252 |
1968 | I>S | Brugada syndrome BRGDA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV001050759 RCV002223261 rs745812849 |
1970 | S>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061007024 RCV001045240 |
1973 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465388 rs1060501131 CA16611366 |
1973 | F>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061006678 RCV001238060 |
1976 | S>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019544 RCV001223934 RCV000058817 VAR_074763 rs199473334 |
1977 | Y>N | Brugada syndrome Congenital long QT syndrome LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA352139410 RCV000817882 rs1575703086 |
1978 | D>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728903 RCV002516922 CA019547 RCV000183139 |
1979 | S>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001143901 RCV001143902 RCV001143900 RCV000703103 RCV000622370 rs772258197 CA065024 RCV001841808 RCV001143898 RCV001143899 RCV001145795 |
1980 | V>F | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000405463 rs774432823 RCV000296776 RCV000351177 RCV000381708 CA10618414 RCV000292814 RCV000387023 RCV000338453 |
1982 | R>I | Brugada syndrome Progressive familial heart block Congenital long QT syndrome Long QT syndrome Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001841479 CA352139353 RCV000549750 rs771243543 |
1983 | A>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322818 CA065054 RCV001841209 RCV001535565 rs778230530 |
1984 | T>I | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001344365 RCV001571193 COSM226069 rs756562718 CA065059 RCV001841056 |
1986 | D>N | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. NS [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000022947 RCV000148858 rs199473335 RCV000154830 RCV000688881 RCV000756620 CA019555 RCV001841252 VAR_065865 |
1987 | N>K | Cardiac arrhythmia Brugada syndrome Atrial fibrillation Atrial fibrillation, familial, 10 (atfb10) Atrial fibrillation, familial, 10 ATFB10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001143897 RCV001143896 RCV001080023 RCV001150018 RCV001150019 RCV001842400 RCV001150020 rs145009013 CA019559 RCV002354253 RCV000058819 RCV000987193 |
1988 | L>R | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001841971 CA065087 RCV001150015 RCV001150013 RCV001148449 RCV001150017 rs765885732 RCV001150016 RCV001150014 RCV001873159 RCV002352290 |
1990 | V>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_074483 RCV000155706 RCV000477188 RCV003162460 RCV000058820 CA019564 RCV002483115 RCV001842401 rs199473336 |
1991 | R>Q | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000266104 RCV002480202 RCV001841257 RCV000360839 COSM1593714 RCV001094889 RCV000323859 RCV002271491 RCV000321156 RCV000272123 CA065094 RCV000385010 RCV000327202 rs371308670 COSM294797 |
1991 | R>W | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 large_intestine Congenital long QT syndrome endometrium Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001841884 CA065101 rs558904601 |
1992 | G>A | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs558904601 RCV001843076 |
1992 | G>V | Cardiac arrhythmia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019569 CA72937659 RCV000183203 rs794728941 RCV000706343 |
1995 | Y>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA352139206 RCV002356857 rs1299022904 RCV001841095 |
1996 | S>N | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001065661 rs2061003725 |
1999 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA72937652 RCV001841107 rs764195092 |
2000 | D>H | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs764195092 CA065124 RCV001841178 RCV001787124 |
2000 | D>Y | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002354612 RCV002500715 RCV000219261 CA10576613 RCV001842985 rs771018427 RCV000766281 RCV000692403 |
2002 | A>T | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. Brugada syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs376697724 CA065167 RCV002358799 RCV001815007 RCV001329633 RCV000638660 RCV002492986 RCV002508242 |
2003 | D>N | Brugada syndrome Brugada syndrome 1 Atrial fibrillation, familial, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs41311117 RCV001841166 RCV002560995 CA065172 RCV002480639 RCV002356862 |
2004 | F>I | Cardiac arrhythmia Brugada syndrome Brugada syndrome 1 Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA019578 RCV001145575 RCV001841618 RCV001145574 rs41311117 RCV000202785 RCV000171818 RCV000678922 RCV001082610 RCV000251940 RCV000041636 VAR_055221 RCV001145688 RCV000058821 RCV000852960 RCV001145687 RCV001145689 |
2004 | F>L | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Cardiomyopathy Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) Long QT syndrome Dilated cardiomyopathy 1E Long qt syndrome 3 (lqt3) LQT3 and BRGDA1; also found in patients with atrial fibrillation; results in channels with decreased peak and persistent current amplitudes; increased closed-state and slow inactivation; decelerated recovery from inactivation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA019586 RCV000182917 RCV000234762 rs794728842 |
2004 | F>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs41311117 RCV001145571 RCV001145572 RCV001145570 RCV001842402 RCV000058822 RCV001145573 RCV000870133 RCV001145569 VAR_074484 CA019582 RCV001149903 |
2004 | F>V | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) BRGDA1 and LQT3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000058823 rs199473337 CA019590 |
2005 | P>A | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA019593 rs779649600 RCV002354482 RCV000706263 RCV000182918 |
2005 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000796662 rs199473337 RCV001841978 RCV001560150 CA065192 |
2005 | P>S | Cardiac arrhythmia Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001149899 RCV000242689 RCV001083666 RCV001149900 RCV001149901 RCV001842403 VAR_055222 rs45489199 RCV001149902 CA019597 RCV003149714 RCV000678920 RCV001149898 RCV000154829 RCV000058824 |
2006 | P>A | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Cardiomyopathy Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome 1 (brgda1) Dilated cardiomyopathy 1E Long qt syndrome 3 (lqt3) Sick sinus syndrome 1 (sss1) found in a patient with long QT syndrome; unknown pathological significance; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473338 RCV001148338 RCV001148336 RCV000058825 RCV001148335 CA019601 RCV002513771 RCV001149897 RCV001148337 RCV001148334 |
2006 | P>R | Progressive familial heart block, type 1A Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs750070697 COSM1422758 CA065208 RCV001841955 COSM1422759 RCV001367293 |
2008 | P>L | Variant assessed as Somatic; 0.0001684 impact. Cardiac arrhythmia Brugada syndrome large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA065218 RCV001251366 RCV001842591 rs757114635 RCV001042218 |
2009 | D>E | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753744525 RCV001312823 RCV001842782 CA065225 |
2010 | R>G | Cardiac arrhythmia Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000287762 RCV000346616 RCV000322026 CA10618690 RCV000403611 rs886058459 RCV000291687 RCV000351997 RCV000376753 |
2011 | D>E | Brugada syndrome Progressive familial heart block Congenital long QT syndrome Long QT syndrome Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000515713 RCV000058827 RCV001705714 RCV002498347 RCV003162461 RCV000468309 CA019612 VAR_074764 rs199473640 RCV001842404 |
2012 | R>C | Cardiac arrhythmia Brugada syndrome Long QT syndrome 3 Congenital long QT syndrome Brugada syndrome 1 LQT3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs774244998 CA065243 RCV002357087 RCV001297212 |
2012 | R>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001147408 RCV002354484 RCV001250213 RCV001842931 RCV001147407 RCV000465160 CA019615 RCV001147409 rs762981322 RCV001148332 RCV001781541 RCV001148333 RCV001148331 |
2016 | V>M | Cardiac arrhythmia Progressive familial heart block, type 1A Brugada syndrome Variant assessed as Somatic; 0.0 impact. Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1553607722 RCV000623648 |
1 | M>L | No |
ClinVar dbSNP |
|
|
rs377500015 CA056915 |
3 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777042523 CA056910 |
3 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777042523 CA352159642 |
3 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1575854552 CA352159604 |
6 | L>F | No |
ClinGen Ensembl |
|
|
rs1176802161 CA352159609 |
6 | L>S | No |
ClinGen gnomAD |
|
|
CA352159585 rs780365654 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780365654 CA056639 |
7 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs933949794 CA352159597 |
7 | P>T | No |
ClinGen gnomAD |
|
|
CA056653 rs564261427 |
8 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352159545 rs1575854428 |
10 | T>P | No |
ClinGen Ensembl |
|
|
CA056665 rs753443631 |
10 | T>S | No |
ClinGen ExAC |
|
|
rs763770860 CA352159424 |
14 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1223977399 CA352159421 |
14 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs763770860 CA056686 |
14 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs759514258 CA056744 |
16 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs794728902 RCV000183138 |
19 | E>missing | No |
ClinVar dbSNP |
|
|
RCV001269744 CA352159334 rs1553607672 |
19 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs369275887 CA056785 |
20 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352159248 rs1401509503 |
21 | L>V | No |
ClinGen gnomAD |
|
|
CA056809 rs769011636 |
23 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA352159160 rs747251132 |
25 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555408038 CA056828 |
25 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352159133 rs1553607644 |
26 | K>* | No |
ClinGen Ensembl |
|
|
rs199473045 CA056875 |
27 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA056895 rs777351226 |
28 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA352159070 rs748805919 |
28 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352159043 rs562675882 |
29 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA019870 rs794728905 |
29 | A>V | No |
ClinGen Ensembl |
|
|
rs974585930 CA72951838 |
30 | E>K | No |
ClinGen TOPMed |
|
|
CA352159011 rs1553607623 |
31 | K>* | No |
ClinGen Ensembl |
|
|
rs1175871624 CA352158864 |
36 | S>T | No |
ClinGen TOPMed |
|
|
rs1553607603 CA352158794 |
39 | L>* | No |
ClinGen Ensembl |
|
|
rs1426662817 CA352158791 |
39 | L>F | No |
ClinGen gnomAD |
|
|
rs1260906125 CA352158754 |
41 | E>* | No |
ClinGen gnomAD |
|
|
rs1260906125 CA352158740 |
41 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352158656 rs199473047 |
43 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352158639 rs1553607596 |
44 | E>* | No |
ClinGen Ensembl |
|
|
rs1486547908 CA352158614 |
45 | G>A | No |
ClinGen gnomAD |
|
|
CA056539 rs771444864 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA056571 rs769229586 |
52 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553607575 CA352158309 |
62 | K>* | No |
ClinGen Ensembl |
|
|
rs200344525 CA056614 |
62 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553607570 CA352158283 |
63 | K>* | No |
ClinGen Ensembl |
|
|
CA352158273 COSM3669203 CA352158263 COSM3669202 rs1460232129 |
63 | K>N | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs566155914 CA056630 |
65 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1429845416 CA352158231 |
66 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 67 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382838539 CA352158178 |
68 | Y>C | No |
ClinGen gnomAD |
|
|
rs1183567941 CA352158107 |
72 | P>L | No |
ClinGen TOPMed |
|
|
rs1183868740 CA352158065 |
74 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA352158056 rs184966825 |
74 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1183868740 CA352158069 |
74 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1228779956 CA352158018 |
77 | G>* | No |
ClinGen gnomAD |
|
|
CA352157992 rs1553607549 |
78 | E>* | No |
ClinGen Ensembl |
|
|
CA060240 rs200923894 |
79 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771355109 CA060298 |
79 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA060252 rs200923894 |
79 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 82 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866999208 CA72951810 |
82 | D>N | No |
ClinGen Ensembl |
|
|
CA352157864 rs1415844103 |
84 | D>E | No |
ClinGen Ensembl |
|
|
CA352157870 rs1462326368 |
84 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352157866 RCV000621149 rs1462326368 |
84 | D>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs201658652 CA060576 |
85 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201658652 CA060568 |
85 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA060591 rs746724096 |
86 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA016413 RCV000182902 rs794728839 |
90 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553607519 CA352157712 |
91 | K>* | No |
ClinGen Ensembl |
|
|
rs1173876327 CA352157086 |
98 | K>* | No |
ClinGen TOPMed |
|
|
CA352157087 rs1173876327 |
98 | K>E | No |
ClinGen TOPMed |
|
|
CA352157072 rs1553607165 |
100 | K>* | No |
ClinGen Ensembl |
|
|
rs771949304 CA061182 |
101 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs2062506882 RCV001255478 |
101 | T>P | No |
ClinVar dbSNP |
|
| TCGA novel | 103 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778855981 CA061332 |
106 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA352157014 rs1341934922 |
109 | N>T | No |
ClinGen TOPMed |
|
|
CA352157003 rs1553607140 |
111 | L>* | No |
ClinGen Ensembl |
|
|
rs755101048 CA061680 |
112 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1292133767 CA352156988 |
113 | V>A | No |
ClinGen gnomAD |
|
|
CA017311 RCV000182925 rs794728844 |
120 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553607112 CA352156937 |
122 | R>* | No |
ClinGen Ensembl |
|
|
CA352156928 rs765699394 |
123 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA062245 rs76552185 |
125 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs185492581 CA352156916 |
126 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 126 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352154849 rs1262738959 |
135 | M>K | No |
ClinGen TOPMed |
|
|
rs1262738959 CA352154851 |
135 | M>T | No |
ClinGen TOPMed |
|
|
rs772956530 CA062751 |
135 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352154814 rs1477081891 |
137 | I>M | No |
ClinGen TOPMed |
|
|
rs769738065 CA062833 |
137 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs528430154 CA352154780 |
139 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1174513197 CA352154636 |
149 | A>V | No |
ClinGen TOPMed |
|
|
rs778337208 CA063420 |
152 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1442837731 CA352154573 |
154 | P>L | No |
ClinGen gnomAD |
|
|
CA352154564 rs1384895681 |
155 | P>L | No |
ClinGen gnomAD |
|
|
RCV000271768 CA10602880 rs886041848 |
156 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352154559 rs1315887061 |
156 | W>R | No |
ClinGen gnomAD |
|
|
CA063557 rs753298600 |
157 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352154532 rs1553605931 |
158 | K>* | No |
ClinGen Ensembl |
|
|
rs1473690462 CA352154527 |
158 | K>T | No |
ClinGen gnomAD |
|
| rs549015769 | 160 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180742794 CA352154498 |
160 | V>F | No |
ClinGen gnomAD |
|
|
CA352154487 rs199473062 |
161 | E>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs758037177 CA063879 |
162 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA063843 rs765865175 |
162 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1340685408 CA352154025 |
163 | T>I | No |
ClinGen TOPMed |
|
|
CA352154029 rs1575830954 |
163 | T>P | No |
ClinGen Ensembl |
|
|
CA352154017 rs1343703324 |
164 | F>L | No |
ClinGen gnomAD |
|
|
CA72948557 rs77772646 |
164 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 169 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352153921 rs1553605713 |
171 | E>* | No |
ClinGen Ensembl |
|
|
rs1257767162 CA352153899 |
173 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 174 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764102308 CA064230 |
174 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA352153877 rs1553605710 |
175 | K>* | No |
ClinGen Ensembl |
|
|
rs794728847 RCV000182929 CA019202 |
180 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 181 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484587590 CA352153802 |
182 | C>Y | No |
ClinGen gnomAD |
|
|
rs1425457747 CA352153784 |
184 | H>D | No |
ClinGen TOPMed |
|
|
RCV000619019 rs770959082 CA019320 |
184 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA352153779 rs1447971572 |
184 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352153769 rs199473067 |
185 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA064662 rs199473069 |
190 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553605678 CA352153619 |
193 | W>* | No |
ClinGen Ensembl |
|
|
CA352153632 rs1288302782 |
193 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352153633 rs1288302782 |
193 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352153573 rs1553605674 |
195 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352153489 rs1391052004 |
199 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72948509 rs368599832 |
201 | I>V | No |
ClinGen ESP gnomAD |
|
|
RCV000182935 rs199473559 CA019632 |
204 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352153406 rs1378168869 RCV000781838 |
204 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1472443371 CA352151748 |
205 | Y>H | No |
ClinGen Ensembl |
|
|
CA72943219 rs868622194 |
209 | F>Y | No |
ClinGen Ensembl |
|
|
CA352151657 rs1400744103 |
213 | G>S | No |
ClinGen gnomAD |
|
|
CA352151632 rs1379460301 |
215 | V>I | No |
ClinGen gnomAD |
|
|
CA352151607 rs1449116131 |
217 | A>V | No |
ClinGen gnomAD |
|
|
RCV000182940 CA019695 rs794728849 |
222 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs45546039 CA352151562 |
222 | R>L | No |
ClinGen gnomAD |
|
|
rs1339062796 CA352151486 |
230 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA72943148 rs1050647496 |
233 | I>T | No |
ClinGen TOPMed |
|
|
rs1404917416 CA352151444 |
234 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 235 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA065574 rs576657775 |
235 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576657775 CA72943141 |
235 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352151061 rs1553705583 |
237 | K>* | No |
ClinGen Ensembl |
|
|
CA352150926 rs1553705562 |
249 | K>* | No |
ClinGen Ensembl |
|
|
CA352150902 rs1274755542 |
251 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202627232 CA352150819 |
258 | V>I | No |
ClinGen TOPMed |
|
|
CA352150788 rs1553705555 |
260 | C>* | No |
ClinGen Ensembl |
|
|
rs752824646 CA352150761 |
263 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767733718 CA065685 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA065692 rs751911691 |
266 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1463216400 CA352150679 |
271 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200076065 CA352150653 RCV000619004 |
273 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000171703 CA019816 rs200076065 |
273 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs794728852 CA352150641 |
274 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1553705520 CA352150587 |
279 | K>* | No |
ClinGen Ensembl |
|
|
rs72549413 CA352150565 |
280 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275451960 CA352150533 |
283 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 284 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA065756 rs775391317 |
285 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs748244121 CA065779 |
288 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199473084 CA352150473 |
289 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352150457 RCV000756619 rs1559778505 |
290 | T>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352150444 rs376515775 |
291 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA019885 RCV000058855 rs199473563 VAR_074340 |
291 | N>S | No |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
|
COSM1593658 rs865839879 CA72941651 COSM1044303 |
293 | S>F | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1553705473 CA352150393 |
299 | L>* | No |
ClinGen Ensembl |
|
|
rs770892044 CA065880 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1575813063 CA352150385 |
300 | V>G | No |
ClinGen Ensembl |
|
|
CA352150378 rs1057524769 |
301 | W>* | No |
ClinGen TOPMed |
|
|
COSM1422842 COSM1422843 CA352150375 rs1060501136 |
302 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA352150353 rs1427230517 |
305 | D>E | No |
ClinGen gnomAD |
|
|
CA065891 COSM3660525 rs781217607 COSM3660526 |
305 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748956841 CA065902 |
306 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs2062079664 RCV001264496 |
308 | L>V | No |
ClinVar dbSNP |
|
|
CA352150332 rs1185634310 |
309 | S>C | No |
ClinGen gnomAD |
|
|
rs780325353 CA065906 |
309 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA352150326 rs1559778286 |
310 | D>N | No |
ClinGen Ensembl |
|
|
rs1553705458 CA352150310 |
312 | E>* | No |
ClinGen Ensembl |
|
|
rs773157703 CA352150174 |
317 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA065979 rs773157703 |
317 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1322091800 CA352150168 |
317 | K>M | No |
ClinGen gnomAD |
|
|
rs199473090 CA352150144 |
319 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364304621 CA352150116 |
322 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1553705197 CA352150073 |
326 | C>* | No |
ClinGen Ensembl |
|
|
rs746117052 CA066007 |
330 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA352150037 rs749769938 |
332 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746053691 CA352149910 |
335 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553704980 CA352149896 |
337 | E>* | No |
ClinGen Ensembl |
|
|
rs191009474 CA72940630 |
340 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533731124 CA352149837 |
341 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553704964 CA352149818 |
343 | K>* | No |
ClinGen Ensembl |
|
|
CA352149800 rs1372770367 |
344 | A>S | No |
ClinGen gnomAD |
|
|
rs368552426 CA352149776 |
346 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352149771 rs780735882 |
346 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs375386714 CA057027 |
348 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 350 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs876661391 RCV000223894 CA10581145 |
358 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1368021345 CA352149512 |
359 | A>T | No |
ClinGen TOPMed |
|
|
CA352149481 COSM355445 rs1575807641 |
361 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1325284398 CA352149458 |
363 | L>F | No |
ClinGen Ensembl |
|
|
rs1553704902 CA352149323 |
373 | C>* | No |
ClinGen Ensembl |
|
|
CA014369 rs1553704896 |
374 | W>* | No |
ClinGen Ensembl |
|
|
CA352149302 rs1553704888 |
375 | E>* | No |
ClinGen Ensembl |
|
|
CA352149281 rs199473101 |
376 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA014398 rs373172185 RCV000182961 |
378 | Y>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1189872689 CA352149261 |
378 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 379 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747551321 CA057286 |
384 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA014445 RCV000182962 rs794728854 |
389 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1450641198 CA352149050 |
389 | Y>H | No |
ClinGen gnomAD |
|
|
rs1337636539 CA352148912 |
397 | I>V | No |
ClinGen gnomAD |
|
|
CA352148866 rs199473106 |
400 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA057346 rs749021352 |
402 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA057353 rs777692190 |
404 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752732123 CA057370 |
410 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV002363077 RCV000221861 rs199473110 CA10576617 |
413 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA352148716 rs1401162798 |
414 | M>V | No |
ClinGen gnomAD |
|
|
rs548705770 CA057393 |
415 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352148684 rs1553704750 |
417 | E>* | No |
ClinGen Ensembl |
|
|
rs869025519 CA352148668 |
418 | E>K | No |
ClinGen gnomAD |
|
|
rs1057518916 CA16043398 RCV000415454 |
419 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA72940336 rs866361181 |
421 | Q>* | No |
ClinGen Ensembl |
|
|
RCV000617730 rs1553704745 CA352148625 |
421 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761117662 CA057417 |
425 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352148565 rs1553704739 |
426 | E>* | No |
ClinGen Ensembl |
|
|
CA352148542 rs199473111 |
428 | E>* | Atrial fibrillation, familial, 10 (atfb10) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1215708111 CA352148528 |
429 | E>* | No |
ClinGen gnomAD |
|
|
rs1215708111 CA352148532 |
429 | E>K | No |
ClinGen gnomAD |
|
|
rs1553704726 CA352148510 |
430 | K>* | No |
ClinGen Ensembl |
|
|
CA352148493 rs1553704722 |
431 | E>* | No |
ClinGen Ensembl |
|
|
CA352148477 rs1553704717 |
432 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 432 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374866214 CA057456 |
433 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156956363 CA352148451 |
434 | F>V | No |
ClinGen TOPMed |
|
|
CA72940317 rs866601107 |
435 | Q>* | No |
ClinGen Ensembl |
|
|
CA352148434 rs1458869326 |
435 | Q>R | No |
ClinGen TOPMed |
|
|
rs1553704709 CA352148425 |
436 | E>* | No |
ClinGen Ensembl |
|
|
rs748063085 CA057504 |
437 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1485151 CA352148386 rs199473570 COSM1485150 |
439 | E>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA352148385 rs1559774432 |
439 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 440 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781283235 CA057516 |
441 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA057525 rs758496944 |
441 | L>R | No |
ClinGen ExAC |
|
|
rs1293526829 CA352148350 |
442 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553704689 CA352148339 |
443 | K>* | No |
ClinGen Ensembl |
|
|
COSM4158014 CA352148323 rs1553704688 COSM4158015 |
444 | E>* | thyroid [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA352148309 COSM3823803 rs199473339 COSM3823805 |
446 | E>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1316419063 CA352148044 |
447 | A>S | No |
ClinGen gnomAD |
|
|
CA352148038 rs1180820277 |
448 | L>V | No |
ClinGen TOPMed |
|
|
CA352148029 rs1485594983 |
449 | T>I | No |
ClinGen gnomAD |
|
|
CA352148030 rs1485594983 |
449 | T>S | No |
ClinGen gnomAD |
|
|
CA72939835 rs1028406888 |
450 | I>N | No |
ClinGen TOPMed |
|
|
CA352148010 rs1482217376 |
453 | V>M | No |
ClinGen gnomAD |
|
|
rs1370737443 CA352147999 |
454 | D>V | No |
ClinGen TOPMed |
|
|
RCV000183142 rs794728904 CA014769 |
455 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1310230286 CA352147976 |
459 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 459 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352147961 rs1553704507 |
461 | L>* | No |
ClinGen Ensembl |
|
|
rs41312431 CA72939813 |
461 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352147956 rs199473572 |
462 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA057749 rs761628195 |
463 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA352147939 rs1575803663 |
464 | S>F | No |
ClinGen Ensembl |
|
|
CA352147930 rs1553704501 |
466 | L>* | No |
ClinGen Ensembl |
|
|
rs794728856 CA014827 RCV000182973 |
467 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768592412 CA057772 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA72939792 RCV000618970 rs371911318 |
469 | V>I | No |
ClinGen ClinVar ESP dbSNP gnomAD |
|
|
CA057780 rs746877047 |
470 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553704489 CA352147887 |
473 | E>* | No |
ClinGen Ensembl |
|
|
rs1419170686 CA352147880 |
474 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs770856988 CA057825 |
474 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA352147875 rs1553704483 |
475 | R>* | No |
ClinGen Ensembl |
|
|
rs749373494 CA057836 |
475 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1553704479 CA352147862 |
477 | K>* | No |
ClinGen Ensembl |
|
|
CA352147846 rs1553704471 |
479 | R>* | No |
ClinGen Ensembl |
|
|
CA352147838 rs1553704470 |
480 | K>* | No |
ClinGen Ensembl |
|
|
CA057862 rs752966781 |
480 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352147828 rs1575803412 |
482 | M>L | No |
ClinGen Ensembl |
|
|
CA057889 rs751945652 |
486 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA352147797 rs1553704449 |
487 | E>* | No |
ClinGen Ensembl |
|
|
rs1237080661 CA352147777 |
489 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs766927082 CA352147771 |
490 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766927082 CA057905 |
490 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352147775 rs1226102044 |
490 | G>R | No |
ClinGen gnomAD |
|
|
CA352147768 rs1553704434 |
491 | E>* | No |
ClinGen Ensembl |
|
|
CA352147766 rs1307008942 |
491 | E>G | No |
ClinGen gnomAD |
|
|
rs1392807122 CA352147752 |
493 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1553704414 CA352147734 |
496 | K>* | No |
ClinGen Ensembl |
|
|
rs1395922677 CA352147731 |
496 | K>M | No |
ClinGen gnomAD |
|
|
COSM126043 CA352147729 rs1201401056 |
496 | K>N | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1010793263 CA72939744 |
497 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1060501148 CA352147708 |
500 | E>* | No |
ClinGen Ensembl |
|
|
rs199473117 CA352147698 |
501 | D>V | No |
ClinGen TOPMed |
|
|
CA352147687 rs1452180263 |
503 | P>S | No |
ClinGen gnomAD |
|
|
CA057960 rs776451920 |
504 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs775206419 CA058039 |
506 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA352147672 rs1274715174 |
506 | M>V | No |
ClinGen Ensembl |
|
|
rs1262336321 CA352147577 |
509 | L>P | No |
ClinGen gnomAD |
|
|
CA352147567 rs1206431318 |
510 | S>N | No |
ClinGen gnomAD |
|
|
CA352147549 rs1575801850 |
512 | T>P | No |
ClinGen Ensembl |
|
|
CA058133 rs759471090 |
517 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA352147479 rs1319541679 |
518 | T>I | No |
ClinGen gnomAD |
|
|
rs1319541679 CA352147476 |
518 | T>N | No |
ClinGen gnomAD |
|
|
CA352147454 rs201840288 |
521 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA058186 rs747238713 |
522 | P>R | No |
ClinGen ExAC |
|
|
CA058174 rs768922716 |
522 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs199533947 CA058193 |
523 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs199473119 CA352147430 |
523 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000183146 rs794728907 |
528 | S>missing | No |
ClinVar dbSNP |
|
|
CA015016 rs755767610 |
528 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA058282 rs759331144 |
530 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs766294124 CA058313 |
531 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762949083 CA058323 |
531 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776663050 CA058332 |
532 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs146848219 CA352147254 |
533 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352147258 rs146848219 |
533 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352147152 rs1553704174 |
540 | E>* | No |
ClinGen Ensembl |
|
|
rs1553704168 CA352147027 |
547 | E>* | No |
ClinGen Ensembl |
|
|
CA352146970 rs1575801318 |
550 | T>K | No |
ClinGen Ensembl |
|
|
rs1207394743 CA352146926 RCV001002250 |
553 | E>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1207394743 CA352146931 |
553 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA72939224 rs879007161 |
554 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs879007161 CA352146900 |
554 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199473123 CA352146874 |
555 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352146831 rs1419003529 |
556 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 557 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026788049 CA72939214 |
557 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1455880131 CA352146786 |
558 | H>Q | No |
ClinGen TOPMed |
|
|
RCV001254773 CA72939207 rs966323009 |
558 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs199473575 CA058488 |
559 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470337881 CA352146709 |
563 | V>G | No |
ClinGen gnomAD |
|
|
CA352146669 rs1553704123 |
565 | W>* | No |
ClinGen Ensembl |
|
|
rs199473125 CA352146614 |
568 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352146597 rs769292594 |
569 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA058593 rs780825701 |
570 | T>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000183147 rs794728908 |
571 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 571 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352146531 rs1157789604 |
573 | Q>R | No |
ClinGen gnomAD |
|
|
CA352146511 rs1559771438 |
574 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352146500 rs1553704084 |
575 | Q>* | No |
ClinGen Ensembl |
|
|
rs1400782323 CA352146450 |
577 | S>N | No |
ClinGen gnomAD |
|
|
rs1409457395 CA352146429 |
578 | P>T | No |
ClinGen gnomAD |
|
|
CA352146413 rs199473128 |
579 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867634347 CA72939151 |
579 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 580 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352146385 rs757945763 |
581 | S>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1422823 COSM1422822 rs757945763 CA058688 |
581 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA352146362 rs1240861254 |
583 | P>L | No |
ClinGen gnomAD |
|
|
rs770198726 CA058770 |
586 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1060501143 CA352146251 |
590 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA352146234 rs1553704049 |
591 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 591 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296616824 CA352146158 |
596 | D>E | No |
ClinGen TOPMed |
|
|
rs199473131 CA015362 RCV000058453 VAR_074363 |
596 | D>G | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
|
CA352146149 rs1553704019 |
597 | C>* | No |
ClinGen Ensembl |
|
|
rs1431297685 CA352146157 |
597 | C>G | No |
ClinGen gnomAD |
|
|
rs1346482578 CA352146154 |
597 | C>Y | No |
ClinGen gnomAD |
|
|
rs779691420 CA058809 |
599 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA352146106 rs1225357586 |
600 | V>A | No |
ClinGen TOPMed |
|
|
CA352146077 rs1349235603 |
602 | S>L | No |
ClinGen TOPMed |
|
|
CA352146064 rs1174730886 |
604 | L>V | No |
ClinGen gnomAD |
|
|
CA352146052 rs1435264739 |
605 | G>E | No |
ClinGen gnomAD |
|
|
CA352146029 rs1186450146 |
607 | G>R | No |
ClinGen gnomAD |
|
|
rs755114387 CA058882 |
608 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751774111 CA352145992 |
610 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA058922 rs773421028 |
616 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs974947142 CA352145911 |
617 | H>P | No |
ClinGen TOPMed |
|
|
CA058987 rs775045819 |
623 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1054639237 CA72939050 |
624 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA352145827 rs201552126 |
625 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs745582161 CA059003 |
626 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA352145811 rs1474916264 |
626 | H>Q | No |
ClinGen gnomAD |
|
|
rs1339707204 CA352145790 |
628 | P>R | No |
ClinGen gnomAD |
|
|
rs994844505 CA72939030 |
629 | D>Y | No |
ClinGen gnomAD |
|
| rs1204915217 | 630 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568517614 CA059207 |
634 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553703324 CA352145188 |
635 | E>* | No |
ClinGen Ensembl |
|
|
CA059242 rs757482673 |
636 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352145163 rs1269373936 |
639 | G>A | No |
ClinGen gnomAD |
|
|
rs199473137 CA059273 |
640 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000182991 CA015591 rs753232371 |
647 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 647 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352145111 rs1423201948 |
648 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs915888986 CA72932981 |
651 | D>E | No |
ClinGen gnomAD |
|
|
CA352145090 rs1298836183 |
652 | G>S | No |
ClinGen gnomAD |
|
|
CA352145076 rs199473138 |
654 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1172857494 CA352145072 |
654 | E>D | No |
ClinGen gnomAD |
|
|
rs199473138 CA352145077 |
654 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1553703249 CA352145056 |
657 | G>* | No |
ClinGen Ensembl |
|
|
CA059363 rs748061256 |
658 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA059466 rs755504715 |
671 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA352144975 rs751050999 |
671 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352144973 rs199473140 |
672 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 672 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415192676 CA352144968 |
673 | L>V | No |
ClinGen gnomAD |
|
|
rs878926569 CA352144964 |
674 | E>* | No |
ClinGen Ensembl |
|
|
rs878926569 CA72932935 |
674 | E>Q | No |
ClinGen Ensembl |
|
|
rs1553703212 CA352144956 |
675 | E>* | No |
ClinGen Ensembl |
|
|
rs1553703070 CA352144931 |
677 | E>* | No |
ClinGen Ensembl |
|
|
CA059609 rs757989390 |
677 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA352144923 rs1553703063 |
678 | E>* | No |
ClinGen Ensembl |
|
|
CA352144898 rs1553703052 |
682 | K>* | No |
ClinGen Ensembl |
|
|
CA352144897 rs1342615402 |
682 | K>T | No |
ClinGen TOPMed |
|
|
rs1553703036 CA352144889 |
683 | C>* | No |
ClinGen Ensembl |
|
|
RCV000182994 rs199473144 CA015776 |
683 | C>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs794728860 RCV000182995 CA015794 |
683 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs199473144 CA352144892 |
683 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1264149431 CA352144876 |
685 | P>L | No |
ClinGen TOPMed |
|
|
rs1467492875 CA352144869 |
686 | C>* | No |
ClinGen gnomAD |
|
|
CA352144870 rs1201095122 |
686 | C>F | No |
ClinGen gnomAD |
|
|
CA352144860 rs1553703024 |
687 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199473146 CA059697 |
691 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352144833 rs1575790366 |
692 | Q>P | No |
ClinGen Ensembl |
|
|
CA352144800 rs1553703015 |
697 | W>* | No |
ClinGen Ensembl |
|
|
CA352144795 rs1553703012 |
698 | E>* | No |
ClinGen Ensembl |
|
|
rs1553703007 CA352144783 |
699 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 699 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553703005 CA352144775 |
700 | C>* | No |
ClinGen Ensembl |
|
|
CA352144757 rs1553702997 |
703 | W>* | No |
ClinGen Ensembl |
|
|
rs1381348133 CA352144744 |
705 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1300515695 CA352144739 |
706 | I>V | No |
ClinGen TOPMed |
|
|
rs1553702988 CA352144731 |
707 | K>* | No |
ClinGen Ensembl |
|
|
CA352144715 rs1553702984 |
709 | G>* | No |
ClinGen Ensembl |
|
|
CA352144704 rs1553702978 |
711 | K>* | No |
ClinGen Ensembl |
|
|
rs1553702976 CA352144696 |
712 | L>* | No |
ClinGen Ensembl |
|
|
CA352144682 rs759036311 |
714 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM730969 CA352144674 rs1334057069 COSM1149736 |
715 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1246637863 CA352144676 |
715 | M>T | No |
ClinGen gnomAD |
|
|
CA352144679 rs1240907055 |
715 | M>V | No |
ClinGen TOPMed |
|
|
CA059850 rs756881615 |
718 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1553702954 CA352144599 |
726 | C>* | No |
ClinGen Ensembl |
|
|
CA352144602 rs1488857271 |
726 | C>G | No |
ClinGen TOPMed |
|
|
rs794728861 CA015890 RCV000182997 |
726 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA72932543 rs1035483087 |
728 | V>E | No |
ClinGen Ensembl |
|
| TCGA novel | 730 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752594272 CA059886 |
730 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA059897 CA72932536 rs759509286 |
733 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA352144545 rs137854611 |
735 | A>G | Brugada syndrome 1 (brgda1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352144538 rs794728862 |
737 | E>* | No |
ClinGen Ensembl |
|
|
rs1418672515 CA352144530 |
738 | H>Y | No |
ClinGen TOPMed |
|
|
CA352144484 rs1553702928 |
744 | E>* | No |
ClinGen Ensembl |
|
|
rs199473582 CA352144469 |
746 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553702924 COSM355444 CA352144461 |
747 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA059979 rs772681454 |
751 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs199473153 CA352144430 |
752 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA72932497 rs267599789 |
752 | G>E | No |
ClinGen Ensembl |
|
|
CA72932488 rs75960619 |
754 | L>R | No |
ClinGen Ensembl |
|
|
rs775010595 CA352143506 |
763 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs771525573 CA060194 |
763 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775010595 CA060186 |
763 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs199473156 CA016037 RCV000183000 |
764 | M>T | No |
ClinGen ClinVar 1000Genomes dbSNP |
|
|
CA352143479 rs1553701171 |
767 | K>* | No |
ClinGen Ensembl |
|
|
CA352143439 rs199473158 |
773 | P>T | No |
ClinGen TOPMed |
|
|
CA352143430 rs1450628433 |
774 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1303852068 CA352143432 |
774 | Y>D | No |
ClinGen gnomAD |
|
|
rs755700532 CA72929440 |
777 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064793651 RCV000478687 |
779 | Q>missing | No |
ClinVar dbSNP |
|
|
CA352143395 rs199473583 |
779 | Q>* | No |
ClinGen Ensembl |
|
|
rs1167243127 CA352143393 |
779 | Q>R | No |
ClinGen TOPMed |
|
|
RCV000183148 rs794728909 |
780 | G>* | No |
ClinVar dbSNP |
|
|
rs1553701137 CA352143377 |
781 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776048139 CA72929434 |
783 | I>M | No |
ClinGen Ensembl |
|
|
rs1425910288 CA352143361 |
783 | I>T | No |
ClinGen gnomAD |
|
|
CA060231 rs747822309 |
784 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766200848 CA060290 |
789 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA352143310 rs1559758696 |
791 | L>F | No |
ClinGen Ensembl |
|
|
rs1270781573 CA352143296 |
793 | L>F | No |
ClinGen gnomAD |
|
|
CA16604918 rs1057520483 RCV000432154 |
794 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352143283 rs1060501141 |
795 | E>* | No |
ClinGen Ensembl |
|
|
rs1443617044 CA352143279 |
795 | E>D | No |
ClinGen TOPMed |
|
|
rs1331047572 CA352143252 |
801 | M>V | No |
ClinGen gnomAD |
|
|
CA352143226 rs1553701100 |
804 | L>* | No |
ClinGen Ensembl |
|
|
CA352143228 rs1575773032 |
804 | L>M | No |
ClinGen Ensembl |
|
|
rs767947088 CA352143218 |
805 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771339055 CA060376 |
806 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 807 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352143189 rs794728864 |
811 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1553700720 CA352142743 |
817 | K>* | No |
ClinGen Ensembl |
|
|
rs865884072 CA72928769 |
819 | A>T | No |
ClinGen Ensembl |
|
|
CA352142713 rs1553700701 |
820 | K>* | No |
ClinGen Ensembl |
|
|
CA352142632 rs1398226122 |
826 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 826 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352142588 rs1575770358 |
829 | I>N | No |
ClinGen Ensembl |
|
|
CA352142576 rs1553700695 |
830 | K>* | No |
ClinGen Ensembl |
|
|
CA72928748 rs796561096 |
838 | A>T | No |
ClinGen Ensembl |
|
|
CA060551 rs779651951 |
841 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA352142428 rs1575770235 |
841 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 842 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72928662 rs985979456 |
850 | V>A | No |
ClinGen Ensembl |
|
|
rs911293694 CA72928665 |
850 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1258291962 CA352142246 |
856 | V>L | No |
ClinGen gnomAD |
|
|
CA060600 rs752821966 |
858 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1553700656 CA352142147 |
863 | K>* | No |
ClinGen Ensembl |
|
|
rs1559757087 CA352142120 |
864 | N>K | No |
ClinGen Ensembl |
|
|
CA352142098 rs755194086 |
866 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA060608 rs781480956 |
866 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352142088 rs199473167 |
867 | E>* | No |
ClinGen gnomAD |
|
|
rs199473167 CA352142091 |
867 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766611987 CA060636 |
869 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA72928608 rs879121718 |
871 | S>G | No |
ClinGen Ensembl |
|
|
CA060643 rs750799677 |
873 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs961614897 CA72928602 |
876 | L>R | No |
ClinGen Ensembl |
|
|
CA352141934 rs1553700623 |
879 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 880 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA016349 rs727505351 RCV000156908 |
883 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA72928576 rs866956533 |
888 | F>L | No |
ClinGen Ensembl |
|
|
rs775234338 CA060670 |
891 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA060679 rs775234338 |
891 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA352141766 rs199473170 RCV000620044 |
892 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA060701 rs778641007 |
895 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352141704 rs1553700601 |
896 | C>* | No |
ClinGen Ensembl |
|
|
rs1553700600 CA352141695 |
897 | G>* | No |
ClinGen Ensembl |
|
|
rs1553700597 CA352141682 |
898 | E>* | No |
ClinGen Ensembl |
|
|
CA352141658 rs1553700593 |
899 | W>* | No |
ClinGen Ensembl |
|
|
rs199473174 CA352141638 |
901 | E>* | No |
ClinGen Ensembl |
|
|
CA72928514 rs199723581 |
902 | T>A | No |
ClinGen 1000Genomes |
|
|
RCV000183204 rs794728942 |
903 | M>missing | No |
ClinVar dbSNP |
|
|
rs1553700581 CA352141581 |
904 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs200235507 CA72928502 |
904 | W>L | No |
ClinGen 1000Genomes |
|
|
rs751681601 CA352141548 |
906 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1553700579 CA016438 |
906 | C>R | No |
ClinGen Ensembl |
|
|
rs1553700578 CA352141521 |
908 | E>* | No |
ClinGen Ensembl |
|
|
rs1575769389 CA352141503 |
909 | V>G | No |
ClinGen Ensembl |
|
|
rs1575769398 CA352141508 |
909 | V>L | No |
ClinGen Ensembl |
|
|
rs199473175 CA352141497 |
910 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1332871357 CA352141486 |
911 | G>E | No |
ClinGen gnomAD |
|
|
CA352141440 rs372782494 |
915 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352141424 rs1387515147 |
917 | L>V | No |
ClinGen gnomAD |
|
|
rs1177134349 CA352141417 |
918 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1575769245 CA352141411 |
918 | V>G | No |
ClinGen Ensembl |
|
|
rs1553700557 CA352141391 |
920 | L>* | No |
ClinGen Ensembl |
|
|
CA352141369 rs1439682683 |
922 | V>I | No |
ClinGen gnomAD |
|
|
CA352141344 rs199473177 RCV000521493 |
924 | V>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1449950677 CA352141334 |
925 | I>F | No |
ClinGen gnomAD |
|
|
CA060812 rs762246339 |
927 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 933 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 934 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553699827 CA352140733 |
937 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 939 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352140695 rs879123756 |
940 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000619937 rs1296243690 CA352140678 |
941 | S>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA352140643 rs1261062848 |
943 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 944 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759162027 CA060962 |
945 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1575762032 CA352140605 |
946 | N>T | No |
ClinGen Ensembl |
|
|
rs774178124 CA352140526 |
952 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA060979 rs766227656 |
953 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1279245034 CA352140495 |
954 | R>* | No |
ClinGen gnomAD |
|
|
CA352140497 rs1279245034 |
954 | R>G | No |
ClinGen gnomAD |
|
|
CA352140480 rs1553699807 |
955 | E>* | No |
ClinGen Ensembl |
|
|
CA352140471 rs1387131121 |
955 | E>D | No |
ClinGen TOPMed |
|
|
CA352140450 rs1225201256 |
956 | M>I | No |
ClinGen gnomAD |
|
|
rs1559752893 CA352140459 |
956 | M>T | No |
ClinGen Ensembl |
|
|
CA72926407 rs878963681 |
958 | N>K | No |
ClinGen TOPMed |
|
|
rs768028579 CA72926404 |
960 | Q>H | No |
ClinGen gnomAD |
|
|
rs773180686 CA060992 |
962 | A>T | No |
ClinGen ExAC |
|
|
CA060999 rs748091338 |
964 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs199473180 CA061002 |
965 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1335476029 CA352140320 |
967 | Q>R | No |
ClinGen gnomAD |
|
|
rs140967646 CA061011 |
969 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140967646 CA352140299 |
969 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352140287 rs1421629948 |
970 | L>M | No |
ClinGen gnomAD |
|
|
CA72926387 rs879239251 |
970 | L>P | No |
ClinGen Ensembl |
|
|
CA72926384 rs61737825 |
971 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575761762 CA352140262 |
972 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 972 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553699781 CA352140237 |
974 | K>* | No |
ClinGen Ensembl |
|
|
rs1553699774 CA352140182 |
978 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352140171 rs1370048998 |
979 | D>E | No |
ClinGen TOPMed |
|
|
rs1256934893 CA352140173 |
979 | D>G | No |
ClinGen gnomAD |
|
|
CA72926366 rs754467213 |
979 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199473591 CA352140144 |
981 | C>Y | No |
ClinGen Ensembl |
|
|
rs1388344088 CA352140110 |
984 | L>V | No |
ClinGen TOPMed |
|
|
CA352140082 rs41313667 |
986 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72926354 rs555879351 |
987 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535991010 CA061091 |
989 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs749528022 CA352140028 |
991 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs749528022 CA061101 |
991 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA352140025 rs1423420953 |
991 | K>T | No |
ClinGen gnomAD |
|
|
rs1016351000 CA72926345 |
992 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352139999 rs770088052 |
993 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352139991 rs1437826730 |
994 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1237502132 CA352139981 |
994 | A>V | No |
ClinGen gnomAD |
|
|
CA061116 rs748639905 |
995 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352139967 rs1481341320 |
996 | A>T | No |
ClinGen gnomAD |
|
|
CA352139939 rs1553699721 |
998 | Q>P | No |
ClinGen Ensembl |
|
|
CA016741 rs1553699721 |
998 | Q>R | No |
ClinGen Ensembl |
|
|
rs1248616784 CA352139923 |
999 | G>D | No |
ClinGen gnomAD |
|
|
CA061132 rs779765658 |
1000 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA352139856 rs1457637082 |
1005 | I>V | No |
ClinGen gnomAD |
|
|
CA061161 rs753710450 |
1006 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763935970 CA72926298 |
1007 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1575761303 CA352139828 |
1007 | T>P | No |
ClinGen Ensembl |
|
|
rs760666065 CA061176 |
1008 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352139817 rs199473184 |
1008 | P>T | No |
ClinGen gnomAD |
|
|
CA352139807 rs1432059144 |
1009 | Y>H | No |
ClinGen gnomAD |
|
|
CA72926292 rs868173874 |
1009 | Y>S | No |
ClinGen Ensembl |
|
|
rs748430477 CA352139737 |
1015 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748430477 CA061210 |
1015 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199473185 CA352139718 |
1016 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553699693 CA352139711 |
1017 | E>* | No |
ClinGen Ensembl |
|
|
CA352139697 rs747529491 |
1018 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs747529491 CA061220 |
1018 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA352139663 rs1219556614 |
1020 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1021 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2061573479 RCV001249001 |
1022 | T>N | No |
ClinVar dbSNP |
|
|
rs1483285567 CA352139621 |
1024 | K>* | No |
ClinGen TOPMed |
|
|
rs1483285567 CA352139623 |
1024 | K>E | No |
ClinGen TOPMed |
|
|
CA352139618 rs1398340636 |
1024 | K>R | No |
ClinGen gnomAD |
|
|
COSM1044270 COSM1593684 CA352139608 rs865983212 |
1025 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA352139606 rs1359709419 |
1025 | E>A | No |
ClinGen gnomAD |
|
|
CA72926247 rs865983212 |
1025 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs763891399 CA72926239 |
1027 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064797003 CA352139555 |
1029 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA352139540 rs1553699659 |
1030 | E>* | No |
ClinGen Ensembl |
|
|
rs369565476 CA352139511 |
1032 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1575760962 CA352139478 |
1034 | P>Q | No |
ClinGen Ensembl |
|
|
rs1206073073 CA352139484 |
1034 | P>T | No |
ClinGen gnomAD |
|
|
CA72926216 rs372235870 |
1035 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs539877292 CA72926219 |
1035 | G>R | No |
ClinGen Ensembl |
|
|
CA352139466 rs372235870 |
1035 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA061270 rs762997950 |
1037 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA061276 rs201831535 |
1037 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000183156 rs794728915 |
1038 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1040 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA061298 rs776159931 |
1041 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1340108513 CA352139381 |
1042 | P>L | No |
ClinGen gnomAD |
|
|
rs1318798411 CA352139372 |
1043 | E>* | No |
ClinGen gnomAD |
|
|
rs1318798411 CA352139375 |
1043 | E>K | No |
ClinGen gnomAD |
|
|
rs1383709229 CA352139356 |
1044 | P>S | No |
ClinGen gnomAD |
|
|
CA352139325 rs1553699634 |
1046 | C>* | No |
ClinGen Ensembl |
|
|
rs794728917 RCV002321726 RCV000183158 |
1048 | P>missing | No |
ClinVar dbSNP |
|
|
rs1167887616 CA352139308 |
1048 | P>S | No |
ClinGen gnomAD |
|
|
rs1373296470 CA352139282 |
1050 | A>S | No |
ClinGen gnomAD |
|
|
CA061317 rs756804959 |
1051 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs137854617 CA352139250 |
1053 | E>* | Brugada syndrome 1 (brgda1) Atrial fibrillation, familial, 10 (atfb10) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1356281331 CA352139236 |
1054 | S>T | No |
ClinGen Ensembl |
|
|
CA352139207 rs1265143149 |
1056 | T>A | No |
ClinGen gnomAD |
|
|
rs1432833848 CA352139195 |
1057 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 1057 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352139152 rs1553699614 |
1060 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1553699612 CA352139134 |
1061 | E>* | No |
ClinGen Ensembl |
|
|
rs1553699607 RCV000171512 |
1062 | D>missing | No |
ClinVar dbSNP |
|
|
rs755010523 CA061346 |
1062 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553699604 CA352139105 |
1063 | E>* | No |
ClinGen Ensembl |
|
|
rs759701680 COSM1265032 COSM1265031 CA061351 |
1063 | E>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1553699603 CA352139095 |
1064 | E>* | No |
ClinGen Ensembl |
|
|
CA061363 rs761871106 |
1066 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA352139050 rs1559751709 |
1067 | L>R | No |
ClinGen Ensembl |
|
|
rs764501300 CA061373 |
1068 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764501300 CA061368 |
1068 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA352139027 rs866055625 |
1070 | E>* | No |
ClinGen Ensembl |
|
|
CA72926037 rs866055625 |
1070 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352139012 rs1367138576 |
1071 | E>* | No |
ClinGen gnomAD |
|
|
CA352139014 rs1367138576 |
1071 | E>K | No |
ClinGen gnomAD |
|
|
rs879114460 CA72926031 |
1072 | E>* | No |
ClinGen TOPMed |
|
|
CA72926028 rs879180388 |
1072 | E>A | No |
ClinGen TOPMed |
|
|
CA72926024 COSM4149880 COSM4149881 rs869177736 |
1074 | S>R | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 1076 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA061471 rs747812126 |
1077 | Q>K | No |
ClinGen ExAC |
|
|
rs1575757425 CA352138896 |
1081 | P>T | No |
ClinGen Ensembl |
|
|
rs1370492279 CA352138878 |
1084 | G>D | No |
ClinGen gnomAD |
|
|
CA352138862 rs1553699295 |
1087 | E>* | No |
ClinGen Ensembl |
|
|
RCV000619655 rs1553699292 |
1088 | A>missing | No |
ClinVar dbSNP |
|
|
rs1036508155 CA72925102 |
1089 | P>A | No |
ClinGen TOPMed |
|
|
CA352138843 rs1805125 |
1090 | P>Q | Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000619603 CA352138847 rs1553699286 |
1090 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA061538 rs767725105 |
1091 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1283329103 CA352138830 |
1092 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352138823 rs1225014803 |
1093 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352138809 rs1296807238 |
1096 | S>C | No |
ClinGen gnomAD |
|
|
rs1296807238 CA352138808 |
1096 | S>G | No |
ClinGen gnomAD |
|
|
rs1254283773 CA352138804 |
1096 | S>I | No |
ClinGen TOPMed |
|
|
rs1430466268 CA352138795 |
1097 | Q>H | No |
ClinGen gnomAD |
|
|
rs1575757156 CA352138789 |
1098 | V>G | No |
ClinGen Ensembl |
|
|
CA352138774 rs1177228918 |
1101 | T>N | No |
ClinGen gnomAD |
|
|
CA352138754 rs1553699259 |
1105 | E>* | No |
ClinGen Ensembl |
|
|
rs776364874 CA061610 |
1105 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA352138749 rs1243589369 |
1106 | A>T | No |
ClinGen gnomAD |
|
|
CA352138742 rs199473193 |
1107 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA017038 RCV000183031 rs771989860 |
1109 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA352138709 rs1553699253 |
1112 | Q>* | No |
ClinGen Ensembl |
|
|
rs1205011122 CA352138703 |
1113 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1205011122 CA352138702 |
1113 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352138693 rs1363142955 |
1114 | D>E | No |
ClinGen gnomAD |
|
|
CA352138686 rs1553699238 |
1115 | W>* | No |
ClinGen Ensembl |
|
|
CA061663 rs748287890 |
1115 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1337893896 CA352138678 |
1117 | Q>* | No |
ClinGen gnomAD |
|
|
CA352138657 rs1553699226 |
1119 | W>* | No |
ClinGen Ensembl |
|
|
CA352138655 rs965297274 |
1120 | K>* | No |
ClinGen TOPMed |
|
|
CA352138645 rs751938579 |
1121 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553699220 CA352138642 |
1122 | E>* | No |
ClinGen Ensembl |
|
|
rs1447666161 CA352138632 |
1123 | P>L | No |
ClinGen TOPMed |
|
|
CA352138635 rs1060501126 |
1123 | P>S | No |
ClinGen gnomAD |
|
|
CA352138623 rs796070621 |
1125 | A>T | No |
ClinGen gnomAD |
|
|
CA352138620 rs730880206 |
1125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1195596216 CA352138619 |
1126 | P>A | No |
ClinGen TOPMed |
|
|
rs1434672265 CA352138609 |
1127 | G>A | No |
ClinGen TOPMed |
|
|
rs561922849 CA061711 |
1128 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179884443 CA352138607 |
1128 | C>G | No |
ClinGen gnomAD |
|
|
rs369935119 CA352138594 |
1130 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369935119 CA061715 |
1130 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352138574 rs199473197 |
1131 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750831286 CA017122 RCV000183034 |
1132 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA352138566 rs1553698852 |
1133 | E>* | No |
ClinGen Ensembl |
|
|
rs757825178 CA061807 |
1134 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA352138539 rs1553698844 |
1136 | C>* | No |
ClinGen Ensembl |
|
|
rs1422399795 CA352138542 |
1136 | C>Y | No |
ClinGen gnomAD |
|
|
rs760339455 CA352138530 |
1138 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA72923981 rs1009303193 |
1139 | G>D | No |
ClinGen TOPMed |
|
|
rs1479565609 CA352138478 |
1146 | N>D | No |
ClinGen TOPMed |
|
|
CA061838 rs759374610 |
1147 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762810998 CA061854 |
1148 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1148 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352138462 rs1553698811 |
1149 | E>* | No |
ClinGen Ensembl |
|
|
CA352138443 rs1553698801 |
1152 | E>* | No |
ClinGen Ensembl |
|
|
CA72923955 rs536585114 |
1154 | I>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1335767363 CA352138388 |
1160 | D>G | No |
ClinGen TOPMed |
|
|
CA352138376 rs1553698790 |
1162 | K>* | No |
ClinGen Ensembl |
|
|
rs1559747105 CA352138367 |
1163 | D>G | No |
ClinGen Ensembl |
|
|
CA352138363 rs1455258949 |
1164 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772317594 CA352138357 |
1165 | E>* | No |
ClinGen ExAC |
|
|
rs746224680 CA352138352 |
1165 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA061886 rs772317594 |
1165 | E>Q | No |
ClinGen ExAC |
|
|
CA352138338 rs1553698776 |
1167 | C>* | No |
ClinGen Ensembl |
|
|
rs993780673 CA72923913 |
1167 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA352138336 rs1175067596 |
1168 | F>L | No |
ClinGen gnomAD |
|
|
CA352138322 rs1553698773 |
1170 | E>* | No |
ClinGen Ensembl |
|
|
CA352138292 rs1553698561 |
1172 | C>* | No |
ClinGen Ensembl |
|
|
CA061959 rs760636854 |
1173 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs367906630 CA352138286 |
1174 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772266572 COSM3696065 CA061967 COSM3696064 |
1174 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1390530399 CA352138279 |
1176 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352138259 rs1553698533 |
1178 | C>* | No |
ClinGen Ensembl |
|
|
CA352138262 rs1169229420 |
1178 | C>Y | No |
ClinGen gnomAD |
|
|
rs771226633 CA352138251 |
1179 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1179 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs794728874 CA352138244 |
1181 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352138221 rs1197722802 |
1184 | T>I | No |
ClinGen gnomAD |
|
|
CA017254 RCV000183024 rs794728873 |
1185 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA72923237 rs879012002 |
1185 | Q>R | No |
ClinGen Ensembl |
|
|
rs199473595 CA352138213 |
1186 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1187 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553698497 CA352138199 |
1189 | K>* | No |
ClinGen Ensembl |
|
|
rs1361499334 CA352138196 |
1189 | K>T | No |
ClinGen gnomAD |
|
|
rs1277632213 CA352138191 |
1190 | V>F | No |
ClinGen gnomAD |
|
|
rs1237724419 CA352138177 |
1191 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3660519 rs1553698475 COSM3660520 CA352138171 |
1192 | W>* | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000183182 CA017274 COSM3660519 COSM3660520 rs794728931 |
1192 | W>* | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1553698465 CA352138163 |
1194 | L>* | No |
ClinGen Ensembl |
|
|
CA352138164 rs1575748933 |
1194 | L>V | No |
ClinGen Ensembl |
|
|
CA352138155 rs199473596 |
1195 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352138152 rs1553698456 |
1196 | K>* | No |
ClinGen Ensembl |
|
|
rs1575748882 CA352138146 |
1197 | T>P | No |
ClinGen Ensembl |
|
|
CA352138142 rs1223015050 |
1197 | T>S | No |
ClinGen TOPMed |
|
|
rs1425918225 CA352138134 |
1198 | C>* | No |
ClinGen gnomAD |
|
|
rs1559745561 CA352138121 |
1200 | H>R | No |
ClinGen Ensembl |
|
|
rs1416591678 CA352138123 |
1200 | H>Y | No |
ClinGen gnomAD |
|
|
CA062076 rs775488050 |
1201 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA72923192 rs375509048 |
1202 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA352138104 rs1553698443 |
1203 | E>* | No |
ClinGen Ensembl |
|
|
CA352138076 rs199473203 |
1206 | W>* | No |
ClinGen Ensembl |
|
|
RCV000058581 CA017325 rs199473203 |
1206 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1319224715 CA352138081 |
1206 | W>R | No |
ClinGen TOPMed |
|
|
rs774537241 CA10602904 RCV000348851 |
1208 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA352138027 rs897810016 |
1213 | F>L | No |
ClinGen TOPMed |
|
|
CA062097 rs771225271 |
1215 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352138009 rs1036340226 |
1216 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs794728876 CA017365 RCV000183041 |
1217 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1350817503 CA352137996 |
1218 | S>T | No |
ClinGen gnomAD |
|
|
rs1553698416 CA352137983 |
1220 | G>* | No |
ClinGen Ensembl |
|
|
rs1221373739 CA352137982 |
1220 | G>E | No |
ClinGen gnomAD |
|
|
CA352137979 rs1575748587 |
1221 | A>T | No |
ClinGen Ensembl |
|
|
rs1379386304 CA352137974 |
1222 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs199473204 CA352149510 |
1225 | E>* | No |
ClinGen gnomAD |
|
|
rs746509665 CA062194 |
1228 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746509665 CA352149448 |
1228 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs779669888 CA352149427 |
1230 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1243184131 CA352149398 |
1233 | K>* | No |
ClinGen gnomAD |
|
|
rs1243184131 CA352149399 |
1233 | K>E | No |
ClinGen gnomAD |
|
|
CA352149391 rs1366447006 |
1234 | T>S | No |
ClinGen TOPMed |
|
|
rs1553696739 CA352149353 |
1236 | K>* | No |
ClinGen Ensembl |
|
|
CA352149341 rs794728932 |
1237 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA017449 RCV000183185 rs794728932 |
1237 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs199473211 CA352149310 |
1240 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352149257 rs1559738461 |
1244 | K>E | No |
ClinGen Ensembl |
|
|
rs1384140717 CA352149242 |
1245 | M>V | No |
ClinGen TOPMed |
|
|
rs764018276 CA062239 |
1247 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1553696693 CA352149175 |
1253 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1254 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766487556 CA062259 |
1255 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA352149134 rs1553696686 |
1257 | K>* | No |
ClinGen Ensembl |
|
|
CA352149110 rs1553696682 |
1258 | W>* | No |
ClinGen Ensembl |
|
|
CA72947520 rs199540275 |
1260 | A>D | No |
ClinGen 1000Genomes |
|
|
rs1196191020 CA352149066 |
1262 | G>D | No |
ClinGen TOPMed |
|
|
rs1553696673 CA352149044 |
1264 | K>* | No |
ClinGen Ensembl |
|
|
rs762237208 CA062282 |
1264 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA352149034 rs1553696669 |
1265 | K>* | No |
ClinGen Ensembl |
|
|
CA352148993 rs1277187267 |
1268 | T>N | No |
ClinGen gnomAD |
|
|
rs1483610696 CA352148995 |
1268 | T>S | No |
ClinGen gnomAD |
|
|
rs199473601 CA352148948 |
1271 | W>* | No |
ClinGen Ensembl |
|
|
CA352148934 rs1553696640 |
1272 | C>* | No |
ClinGen Ensembl |
|
|
CA352148921 rs771636342 |
1273 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs771636342 CA062309 |
1273 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs137854618 RCV000183046 CA017536 |
1275 | D>Y | Atrial fibrillation, familial, 10 (atfb10) [Ensembl] | No |
ClinGen ClinVar dbSNP gnomAD |
| rs749069817 | 1280 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352148285 rs1559734819 |
1282 | S>A | No |
ClinGen Ensembl |
|
|
CA72945858 rs754933998 |
1294 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA062420 rs754933998 |
1294 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199473218 CA352148210 |
1295 | E>* | No |
ClinGen TOPMed |
|
|
CA062435 rs764028177 |
1296 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352148192 rs1223102160 |
1297 | G>D | No |
ClinGen gnomAD |
|
|
rs1553695802 CA352148176 |
1300 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1300 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200334972 CA72945821 |
1303 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352148142 rs730880207 RCV000618029 |
1306 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1307 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553695767 CA352148115 |
1312 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1312 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352148113 rs1559734548 |
1312 | R>T | No |
ClinGen Ensembl |
|
|
RCV001008773 rs1575728590 |
1314 | L>missing | No |
ClinVar dbSNP |
|
|
rs1261656894 CA352148095 |
1315 | S>* | No |
ClinGen gnomAD |
|
|
CA352148080 rs1553695749 |
1318 | E>* | No |
ClinGen Ensembl |
|
|
CA352148074 rs1559734472 |
1319 | G>S | No |
ClinGen Ensembl |
|
|
rs776343513 CA062612 |
1320 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1298287740 CA352148059 |
1321 | R>K | No |
ClinGen gnomAD |
|
|
rs376561306 CA72944955 |
1331 | I>M | No |
ClinGen Ensembl |
|
|
CA352147578 rs1298887412 |
1331 | I>V | No |
ClinGen gnomAD |
|
|
RCV000183054 CA017710 rs794728877 |
1332 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA72944913 rs374268607 |
1335 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA352147504 rs746892102 |
1336 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352147474 rs1489769749 |
1339 | L>F | No |
ClinGen gnomAD |
|
|
CA10587574 RCV000246290 rs199473605 |
1340 | V>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1553695373 CA352147440 |
1341 | C>* | No |
ClinGen Ensembl |
|
|
CA017787 rs199473606 RCV000183059 |
1345 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749366379 CA352147332 |
1348 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA062762 rs778012513 |
1350 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1357908529 CA352147287 |
1351 | M>V | No |
ClinGen gnomAD |
|
|
CA72944835 rs983291201 |
1354 | N>H | No |
ClinGen TOPMed |
|
|
rs1559732518 CA352147230 |
1354 | N>K | No |
ClinGen Ensembl |
|
|
CA352147167 rs199473234 |
1358 | G>R | No |
ClinGen gnomAD |
|
|
rs1553695329 CA352147138 |
1359 | K>* | No |
ClinGen Ensembl |
|
|
CA062817 rs377173580 |
1362 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553695318 CA352147067 |
1363 | C>* | No |
ClinGen Ensembl |
|
|
CA062827 rs202197761 |
1366 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753454172 CA062822 |
1366 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553695310 CA352146968 |
1368 | E>* | No |
ClinGen Ensembl |
|
|
CA352146947 rs1199566571 |
1369 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1369 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199566571 CA352146952 |
1369 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1369 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775485359 CA352146932 |
1370 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1553695304 CA352146916 |
1371 | L>* | No |
ClinGen Ensembl |
|
|
CA062856 rs772078114 |
1375 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs769790752 CA062867 |
1377 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553695277 CA352146691 |
1384 | C>* | No |
ClinGen Ensembl |
|
|
CA352146695 rs1321911273 |
1384 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352146683 rs1553695274 |
1385 | E>* | No |
ClinGen Ensembl |
|
|
rs1553695271 CA352146647 |
1387 | L>* | No |
ClinGen Ensembl |
|
|
CA062892 COSM1265028 COSM1265029 rs182293857 |
1387 | L>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 1388 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553695266 CA352146607 |
1389 | L>* | No |
ClinGen Ensembl |
|
|
CA352146571 rs780405533 |
1391 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352146552 COSM1593692 rs1553695255 COSM1044258 |
1392 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1553695251 CA352146533 |
1393 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1393 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553695246 CA352146484 |
1395 | W>* | No |
ClinGen Ensembl |
|
|
CA352146474 rs1553695241 |
1397 | K>* | No |
ClinGen Ensembl |
|
|
rs1434495282 CA352146443 |
1398 | V>M | No |
ClinGen gnomAD |
|
|
CA352146424 rs1553695233 |
1399 | K>* | No |
ClinGen Ensembl |
|
|
CA352146387 RCV000620562 rs1553695229 |
1400 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352146402 rs1161699839 |
1400 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1401 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs794728878 CA018003 RCV000183064 |
1410 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1411 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352146091 rs1484663881 |
1413 | L>M | No |
ClinGen gnomAD |
|
|
rs1464985937 CA352146040 |
1414 | Q>H | No |
ClinGen gnomAD |
|
|
CA352146034 rs1249316845 |
1415 | V>M | No |
ClinGen gnomAD |
|
|
CA352145636 rs199473242 |
1419 | K>* | No |
ClinGen Ensembl |
|
|
CA352145628 rs199473243 |
1420 | G>A | No |
ClinGen TOPMed |
|
|
rs1553694604 CA352145621 |
1421 | W>* | No |
ClinGen Ensembl |
|
|
CA352145615 rs1444535686 |
1422 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352145614 rs1444535686 |
1422 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA72943636 rs201652703 |
1423 | D>G | No |
ClinGen 1000Genomes |
|
|
CA063004 rs746291609 |
1423 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA018062 rs757843082 RCV000183068 |
1424 | I>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA063016 rs757843082 |
1424 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000619930 CA352145580 rs1335890539 |
1427 | A>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA72943604 rs199473247 |
1433 | G>E | No |
ClinGen Ensembl |
|
|
CA72943607 rs867001670 |
1433 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352145547 rs867001670 RCV000620033 |
1433 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553694470 CA352145525 |
1435 | E>* | No |
ClinGen Ensembl |
|
|
rs1553694466 CA352145517 |
1436 | E>* | No |
ClinGen Ensembl |
|
|
CA352145519 RCV000497515 rs1553694466 |
1436 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553694459 CA352145496 |
1439 | Q>* | No |
ClinGen Ensembl |
|
|
CA063115 rs755668197 |
1439 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA352145485 rs1398392384 |
1440 | W>* | No |
ClinGen gnomAD |
|
|
rs199473249 CA352145481 |
1441 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1441 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780990534 CA063128 |
1442 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA72943351 rs747703075 |
1442 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA063121 rs747703075 |
1442 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254386461 CA352145462 |
1444 | L>I | No |
ClinGen gnomAD |
|
|
CA018146 RCV000183192 RCV002326986 rs794728936 |
1446 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1203144290 CA352145445 |
1446 | M>T | No |
ClinGen TOPMed |
|
|
rs1064793326 RCV000481094 CA16617946 |
1447 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001091802 rs199473613 |
1449 | Y>F | No |
ClinVar dbSNP |
|
|
rs1553694426 RCV000617233 |
1461 | T>* | No |
ClinVar dbSNP |
|
|
CA16617945 RCV000481641 rs1064795922 |
1463 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1327107051 CA352145307 |
1464 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1465 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA018226 RCV000183194 rs794728937 |
1469 | I>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA352145280 rs794728937 |
1469 | I>V | No |
ClinGen gnomAD |
|
|
CA72943317 rs201953823 |
1471 | D>G | No |
ClinGen 1000Genomes |
|
|
rs199473255 RCV001269191 |
1472 | N>I | No |
ClinVar dbSNP |
|
|
RCV000424008 rs1057523393 CA16604466 |
1473 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000250841 rs886039018 |
1475 | Q>missing | No |
ClinVar dbSNP |
|
|
rs794728885 RCV000183076 CA018253 |
1475 | Q>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352145233 rs1553694398 |
1476 | Q>* | No |
ClinGen Ensembl |
|
|
CA352145227 rs1553694392 |
1477 | K>* | No |
ClinGen Ensembl |
|
|
CA352145217 rs1432298976 |
1478 | K>* | No |
ClinGen gnomAD |
|
|
CA352145218 rs1432298976 |
1478 | K>E | No |
ClinGen gnomAD |
|
|
CA352145209 rs1553694389 |
1479 | K>* | No |
ClinGen Ensembl |
|
|
rs758190533 CA063232 |
1483 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1483 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553694247 CA018271 |
1485 | I>V | No |
ClinGen Ensembl |
|
|
rs794728887 CA018290 |
1488 | T>A | No |
ClinGen Ensembl |
|
|
rs1553694242 CA352144345 |
1489 | E>* | No |
ClinGen Ensembl |
|
|
rs1553694237 CA352144338 |
1490 | E>* | No |
ClinGen Ensembl |
|
|
rs794728944 RCV000183206 |
1491 | Q>missing | No |
ClinVar dbSNP |
|
|
CA352144324 rs1553694229 |
1492 | K>* | No |
ClinGen Ensembl |
|
|
CA352144314 rs1553694226 |
1493 | K>* | No |
ClinGen Ensembl |
|
|
rs199473262 CA72943054 |
1495 | Y>C | No |
ClinGen TOPMed |
|
|
rs888246311 CA72943048 |
1496 | N>D | No |
ClinGen Ensembl |
|
|
CA352144254 rs1230010586 |
1502 | G>A | No |
ClinGen gnomAD |
|
|
CA352144250 rs1338155760 |
1503 | S>Y | No |
ClinGen gnomAD |
|
|
rs868516592 CA352144246 |
1504 | K>* | No |
ClinGen Ensembl |
|
|
CA72943025 rs868516592 |
1504 | K>E | No |
ClinGen Ensembl |
|
|
CA018395 rs751787337 |
1504 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278221673 CA352144239 |
1505 | K>* | No |
ClinGen TOPMed |
|
|
CA352144219 rs1553694196 |
1508 | K>* | No |
ClinGen Ensembl |
|
|
rs763373788 CA063293 |
1509 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA063314 rs368219299 |
1512 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297522150 CA352144187 |
1514 | L>M | No |
ClinGen gnomAD |
|
|
rs1553693737 CA352144161 |
1516 | K>* | No |
ClinGen Ensembl |
|
|
CA72942498 rs199473617 |
1521 | I>T | No |
ClinGen gnomAD |
|
|
CA352144097 rs1257816991 |
1525 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1553693718 CA352144089 |
1527 | K>* | No |
ClinGen Ensembl |
|
|
CA063444 rs760226765 |
1529 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs185950366 CA72942487 |
1532 | V>A | No |
ClinGen 1000Genomes |
|
|
CA72942486 rs878882070 |
1533 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs794728945 RCV000183207 CA308149 |
1539 | C>* | No |
ClinVar dbSNP ClinGen Ensembl |
|
|
rs1227371604 CA352144004 |
1539 | C>* | No |
ClinGen gnomAD |
|
|
CA352144005 rs770780069 |
1539 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352143998 rs1553693699 |
1540 | L>* | No |
ClinGen Ensembl |
|
|
CA063478 rs770690961 |
1543 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA352143973 rs1209699758 |
1544 | T>A | No |
ClinGen TOPMed |
|
|
CA352143955 rs1329868233 |
1546 | M>T | No |
ClinGen gnomAD |
|
|
CA352143948 rs1242608512 |
1547 | V>L | No |
ClinGen gnomAD |
|
|
CA352143943 rs199473271 |
1548 | E>* | No |
ClinGen gnomAD |
|
|
rs749125874 CA063486 |
1551 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749125874 CA352143922 |
1551 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1387460395 CA352143911 |
1552 | Q>L | No |
ClinGen gnomAD |
|
|
rs1387460395 CA352143912 |
1552 | Q>R | No |
ClinGen gnomAD |
|
|
CA352143905 rs1575711897 |
1553 | S>T | No |
ClinGen Ensembl |
|
|
rs756066921 CA352143895 |
1555 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs756066921 CA063500 |
1555 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1553693671 CA352143886 |
1556 | K>* | No |
ClinGen Ensembl |
|
|
CA063506 rs747056407 |
1557 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553693657 CA352143858 |
1560 | L>* | No |
ClinGen Ensembl |
|
|
CA352143850 rs1252045228 |
1561 | A>G | No |
ClinGen TOPMed |
|
|
rs1553693653 CA352143846 |
1562 | K>* | No |
ClinGen Ensembl |
|
|
rs1199449202 CA352143825 |
1565 | L>M | No |
ClinGen gnomAD |
|
|
CA352143818 rs1245651517 |
1566 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1566 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA063547 rs757664346 |
1567 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA352143795 rs1285840805 |
1570 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1573 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352143754 rs1553693630 |
1575 | C>* | No |
ClinGen Ensembl |
|
|
CA352143738 rs1553693621 |
1578 | K>* | No |
ClinGen Ensembl |
|
|
rs879102447 CA72942439 |
1581 | A>T | No |
ClinGen gnomAD |
|
|
CA72942432 rs45514691 |
1583 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000481201 CA16617942 rs1064796604 |
1584 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775026107 CA018532 RCV002330636 |
1585 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1389676478 CA352143685 |
1587 | F>V | No |
ClinGen gnomAD |
|
|
CA352143674 rs1320481500 |
1588 | T>I | No |
ClinGen gnomAD |
|
|
CA352143676 rs1320481500 |
1588 | T>N | No |
ClinGen gnomAD |
|
|
CA352143673 rs1315118836 |
1589 | N>H | No |
ClinGen TOPMed |
|
|
CA72942418 rs868097890 |
1591 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA72942416 rs201019590 |
1594 | F>L | No |
ClinGen 1000Genomes |
|
|
CA063609 rs773963544 |
1596 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA72942393 rs775062862 |
1597 | V>A | No |
ClinGen Ensembl |
|
|
rs199473279 CA352143615 |
1597 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772899986 CA063636 |
1598 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA352143591 rs1207551589 |
1601 | L>H | No |
ClinGen gnomAD |
|
|
rs794728938 CA352143569 |
1605 | G>C | No |
ClinGen gnomAD |
|
|
rs762520944 CA063732 |
1605 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA018582 rs794728938 RCV000183197 |
1605 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA063743 rs769495411 |
1606 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1380625877 CA352143161 |
1607 | V>L | No |
ClinGen TOPMed |
|
|
rs199473622 CA352143146 |
1609 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA063806 rs745928032 |
1610 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1404184801 CA352143119 |
1613 | Q>H | No |
ClinGen gnomAD |
|
|
CA352143115 rs1553693059 |
1614 | K>* | No |
ClinGen Ensembl |
|
|
CA352143098 rs1575706889 |
1616 | F>Y | No |
ClinGen Ensembl |
|
|
CA063855 rs771209646 |
1619 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352143040 rs199473283 |
1626 | R>L | Long qt syndrome 3 (lqt3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
| TCGA novel | 1629 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352143021 rs1166204169 |
1630 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1287488145 CA352143025 |
1630 | I>V | No |
ClinGen gnomAD |
|
|
rs374557801 RCV000431771 CA16604565 |
1638 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA063944 rs374557801 |
1638 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370819854 CA063960 |
1639 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000218251 rs876661015 CA10577318 |
1643 | I>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA063970 rs28937316 |
1644 | R>L | Long qt syndrome 3 (lqt3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1332624408 CA352142943 |
1645 | T>A | No |
ClinGen TOPMed |
|
|
rs199473288 CA352142941 |
1645 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs794728889 RCV000183092 CA018786 |
1651 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201832649 CA72938241 |
1659 | N>D | No |
ClinGen 1000Genomes |
|
|
CA352142843 rs1432189044 |
1661 | G>E | No |
ClinGen gnomAD |
|
|
CA72938222 rs199539456 |
1667 | V>A | No |
ClinGen 1000Genomes |
|
|
RCV000183095 CA018830 rs199473293 |
1667 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 1668 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA018843 RCV000041625 rs397517955 |
1670 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1559722032 CA352142733 |
1673 | I>N | No |
ClinGen Ensembl |
|
|
CA352142724 rs1347295641 |
1674 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1675 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA018860 RCV000183097 rs750013499 |
1676 | M>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs794728890 RCV000183096 CA018854 |
1676 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352142645 rs199473294 |
1680 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352142605 rs1553692944 |
1683 | K>* | No |
ClinGen Ensembl |
|
|
rs1553692937 CA352142583 |
1684 | W>* | No |
ClinGen Ensembl |
|
|
rs1209080793 CA352142591 |
1684 | W>R | No |
ClinGen gnomAD |
|
|
CA352142574 rs1553692933 |
1685 | E>* | No |
ClinGen Ensembl |
|
|
rs1553692933 CA352142577 |
1685 | E>K | No |
ClinGen Ensembl |
|
|
CA352142557 rs1424202830 |
1686 | A>G | No |
ClinGen TOPMed |
|
|
CA72938182 rs557836660 |
1689 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs794728891 CA018868 RCV000183099 |
1691 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs869025521 CA352115 RCV000208516 |
1692 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1575706198 CA352142473 |
1693 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1693 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352142443 RCV000490021 rs1085307710 |
1695 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000183100 rs794728892 CA018879 |
1703 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1464481034 CA352142317 |
1705 | F>V | No |
ClinGen TOPMed |
|
|
rs912749045 CA72938119 |
1707 | I>V | No |
ClinGen TOPMed |
|
|
CA352142276 rs1176033961 |
1708 | T>I | No |
ClinGen gnomAD |
|
|
rs1575706033 CA352142248 |
1711 | A>S | No |
ClinGen Ensembl |
|
|
RCV002336461 RCV000183103 CA018925 rs794728893 |
1714 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778490062 CA064180 |
1718 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1575705904 CA352142036 |
1729 | D>A | No |
ClinGen Ensembl |
|
|
rs1199719249 CA352142031 |
1729 | D>E | No |
ClinGen TOPMed |
|
|
rs755971226 CA064206 |
1730 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs752599203 CA064211 |
1730 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000489673 rs1085307527 |
1731 | T>missing | No |
ClinVar dbSNP |
|
|
rs1575705864 CA352142017 |
1731 | T>P | No |
ClinGen Ensembl |
|
|
rs1448888235 CA352141968 |
1735 | S>N | No |
ClinGen TOPMed |
|
|
CA72938064 rs963140339 |
1736 | N>D | No |
ClinGen Ensembl |
|
|
rs1575705818 CA352141954 |
1736 | N>S | No |
ClinGen Ensembl |
|
|
rs786205271 CA352141930 |
1738 | S>C | No |
ClinGen gnomAD |
|
|
CA064240 rs765384135 |
1738 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1197062998 CA352141896 |
1741 | D>E | No |
ClinGen gnomAD |
|
| rs1251085820 | 1741 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA019009 RCV000183108 rs746418124 |
1741 | D>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA019029 RCV000183110 rs794728895 |
1744 | S>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA352141805 rs1575705612 |
1749 | I>V | No |
ClinGen Ensembl |
|
|
CA352141791 rs45606037 |
1750 | L>F | No |
ClinGen gnomAD |
|
|
CA72938014 rs45606037 |
1750 | L>I | No |
ClinGen gnomAD |
|
|
CA352141753 rs1393251307 |
1753 | T>A | No |
ClinGen gnomAD |
|
|
rs1388641436 CA352141720 |
1756 | I>V | No |
ClinGen gnomAD |
|
|
CA064283 rs748874704 |
1759 | S>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000254721 rs886039455 |
1762 | I>missing | No |
ClinVar dbSNP |
|
|
rs375323548 CA352141640 |
1762 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352141556 rs1469394461 |
1770 | I>V | No |
ClinGen gnomAD |
|
|
rs781075228 CA064307 |
1771 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553692809 CA352141522 |
1773 | E>* | No |
ClinGen Ensembl |
|
|
RCV000781840 CA352141504 RCV000489012 rs199473633 |
1774 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1431006017 CA352141487 |
1775 | F>V | No |
ClinGen gnomAD |
|
|
CA352141470 rs1303298205 |
1776 | S>G | No |
ClinGen TOPMed |
|
|
rs1553692788 CA352141412 |
1780 | E>* | No |
ClinGen Ensembl |
|
|
rs1352601386 CA352141409 |
1780 | E>G | No |
ClinGen TOPMed |
|
|
CA352141398 rs1553692784 |
1781 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs534169066 CA352141387 |
1781 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352141360 rs794728896 |
1783 | T>I | No |
ClinGen TOPMed |
|
|
RCV000183116 CA019145 rs794728896 |
1783 | T>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA352141349 rs137854601 |
1784 | E>* | Long qt syndrome 1 (lqt1) Brugada syndrome 1 (brgda1) Long qt syndrome 3 (lqt3) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA72937952 rs113727926 |
1785 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1786 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000183118 rs199473316 CA019163 |
1787 | S>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352141291 rs1553692761 |
1788 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1791 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72937945 rs878927069 |
1792 | D>E | No |
ClinGen TOPMed |
|
|
CA352141254 rs774917987 |
1792 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA352141256 rs727504495 |
1792 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs794728897 RCV000183120 CA019186 RCV000618711 RCV000223759 |
1793 | M>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA064371 rs377119709 |
1797 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs879050352 CA72937936 COSM1537960 COSM1537961 |
1798 | W>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA352141206 rs1553692727 |
1799 | E>* | No |
ClinGen Ensembl |
|
|
rs1553692724 CA352141198 |
1800 | K>* | No |
ClinGen Ensembl |
|
|
CA352141187 rs1294703338 |
1801 | F>S | No |
ClinGen TOPMed |
|
|
rs199473318 CA352141181 |
1802 | D>A | No |
ClinGen Ensembl |
|
|
rs941661843 CA72937929 |
1803 | P>A | No |
ClinGen Ensembl |
|
|
rs908894843 CA72937927 |
1803 | P>L | No |
ClinGen Ensembl |
|
|
rs1553692710 CA352141171 |
1804 | E>* | No |
ClinGen Ensembl |
|
|
CA352141151 rs1553692689 |
1807 | Q>* | No |
ClinGen Ensembl |
|
|
rs1553692688 RCV000589668 CA352141139 |
1808 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA064391 rs769534824 |
1809 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1299165746 CA352141136 |
1809 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352141112 rs371891414 |
1812 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751374389 CA064422 |
1816 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA352141094 rs1285389412 |
1816 | D>N | No |
ClinGen gnomAD |
|
|
rs1331393072 CA352141062 |
1820 | A>V | No |
ClinGen gnomAD |
|
|
CA352141021 rs774593360 |
1828 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352141015 rs1553692629 |
1829 | K>* | No |
ClinGen Ensembl |
|
|
CA72937894 rs879221876 |
1831 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1831 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167031369 CA352140975 |
1834 | S>R | No |
ClinGen gnomAD |
|
|
CA352140972 rs1475539856 |
1835 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1836 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000431525 rs1057521229 CA16604559 |
1837 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA064505 rs780889187 |
1842 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA064494 RCV000620008 RCV001507622 rs368967393 |
1842 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1064794424 RCV000485823 |
1845 | G>missing | No |
ClinVar dbSNP |
|
|
CA352140907 rs1270971988 |
1845 | G>R | No |
ClinGen gnomAD |
|
|
CA352140871 rs1553692594 |
1850 | C>* | No |
ClinGen Ensembl |
|
|
CA352140863 rs1201716451 |
1851 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1270249744 CA352140868 |
1851 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA064529 rs746757555 |
1852 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA352140852 rs1348016844 RCV000621306 |
1853 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs199473636 CA352140757 |
1861 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1869 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352140628 rs1553692581 |
1872 | K>* | No |
ClinGen Ensembl |
|
|
CA064566 rs546815467 |
1873 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199473324 CA064572 |
1875 | M>K | No |
ClinGen ExAC gnomAD |
|
|
COSM350866 CA352140574 rs794728900 |
1876 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000183129 rs794728900 CA019400 |
1876 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1417576047 CA352140560 |
1877 | E>* | No |
ClinGen gnomAD |
|
|
CA352140563 rs1417576047 |
1877 | E>K | No |
ClinGen gnomAD |
|
|
CA352140547 rs1553692574 |
1878 | K>* | No |
ClinGen Ensembl |
|
|
rs1553692567 CA352140444 |
1886 | K>* | No |
ClinGen Ensembl |
|
|
CA019405 rs1553692561 |
1886 | K>N | No |
ClinGen Ensembl |
|
|
CA352140393 rs766875593 |
1890 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1891 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72937844 rs61324450 |
1896 | L>I | No |
ClinGen Ensembl |
|
|
rs765906927 CA064624 |
1896 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1553692539 CA352140305 |
1899 | K>* | No |
ClinGen Ensembl |
|
|
CA352140277 rs199473325 |
1901 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352140263 rs1553692534 |
1902 | E>* | No |
ClinGen Ensembl |
|
|
rs1321244106 CA352140259 |
1902 | E>A | No |
ClinGen gnomAD |
|
|
CA352140261 rs1321244106 |
1902 | E>G | No |
ClinGen gnomAD |
|
|
CA352140251 rs864622270 |
1903 | V>M | No |
ClinGen gnomAD |
|
|
rs150264233 CA352140236 |
1904 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA064697 rs757156396 |
1906 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA064703 rs748194357 |
1908 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA064715 rs755182182 |
1913 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352140129 rs755182182 |
1913 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA064740 rs762462124 |
1915 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352140105 rs1215366634 |
1915 | H>P | No |
ClinGen gnomAD |
|
|
CA064767 rs763533531 |
1920 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1553692487 CA352140046 |
1921 | L>* | No |
ClinGen Ensembl |
|
|
rs1553692481 CA352140036 |
1922 | K>* | No |
ClinGen Ensembl |
|
|
rs760280154 CA352140029 |
1922 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA72937805 rs777302118 |
1923 | H>R | No |
ClinGen Ensembl |
|
|
rs1169840274 CA352140005 |
1925 | S>A | No |
ClinGen TOPMed |
|
|
CA352140002 rs1327459034 |
1925 | S>F | No |
ClinGen gnomAD |
|
|
rs1286754300 CA352139973 |
1927 | L>P | No |
ClinGen gnomAD |
|
|
rs1553692449 CA352139951 |
1930 | Q>* | No |
ClinGen Ensembl |
|
|
CA352139938 rs1401796828 |
1930 | Q>H | No |
ClinGen gnomAD |
|
|
rs758704113 CA064827 |
1933 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA064822 rs758704113 |
1933 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA064846 rs757732575 |
1937 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA064864 rs199473329 |
1938 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553692430 CA352139843 |
1939 | E>* | No |
ClinGen Ensembl |
|
|
RCV002285476 rs2061011231 RCV001328353 |
1940 | D>N | No |
ClinVar dbSNP |
|
|
rs1278044903 CA352139806 |
1942 | P>H | No |
ClinGen gnomAD |
|
|
rs752216581 CA064869 |
1942 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA352139800 rs1553692412 |
1943 | E>* | No |
ClinGen Ensembl |
|
|
CA064887 rs62241186 |
1948 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352139667 rs397517956 |
1954 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559719244 CA352139652 |
1955 | N>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 1956 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA064930 rs746116978 |
1957 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs199473331 CA352139613 |
1958 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1575703331 CA352139587 |
1961 | G>S | No |
ClinGen Ensembl |
|
|
CA352139575 rs1242295386 |
1962 | P>S | No |
ClinGen gnomAD |
|
|
CA064965 rs767034612 |
1965 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA352139541 rs1224533696 |
1965 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1967 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA064976 rs199473639 |
1968 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs199473639 CA72937706 |
1968 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759094008 CA064971 |
1968 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773077577 CA064997 |
1969 | S>F | No |
ClinGen ExAC |
|
|
rs1342745908 CA352139497 |
1970 | S>P | No |
ClinGen gnomAD |
|
|
CA72937698 rs878969391 |
1971 | T>S | No |
ClinGen Ensembl |
|
|
rs554738897 CA065005 |
1973 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA72937689 rs868791526 |
1975 | P>L | No |
ClinGen Ensembl |
|
|
CA72937692 rs998465103 |
1975 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1460489257 CA352139432 |
1976 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352139434 rs1460489257 |
1976 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM2986356 CA065011 rs761877321 COSM2986354 |
1978 | D>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs761877321 CA352139415 |
1978 | D>N | No |
ClinGen ExAC |
|
|
CA352139391 rs772258197 |
1980 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76759236 CA72937680 |
1981 | T>S | No |
ClinGen Ensembl |
|
|
rs1553692351 CA352139369 |
1982 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1982 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA065035 rs774432823 |
1982 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs771243543 CA065041 |
1983 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1985 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005750243 CA352139331 |
1985 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA72937670 rs879246545 |
1986 | D>G | No |
ClinGen gnomAD |
|
|
rs1052861074 CA72937666 |
1989 | Q>R | No |
ClinGen TOPMed |
|
|
CA065080 rs765885732 |
1990 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1992 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000480518 rs1553692331 |
1993 | S>missing | No |
ClinVar dbSNP |
|
|
CA352139220 rs1575702831 |
1995 | Y>S | No |
ClinGen Ensembl |
|
|
CA352139202 rs761751029 |
1996 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776680378 CA065118 |
1997 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA352139166 rs1553692316 |
1999 | E>* | No |
ClinGen Ensembl |
|
|
rs1429721964 CA352139160 |
1999 | E>V | No |
ClinGen gnomAD |
|
|
rs771018427 CA065157 |
2002 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA065185 rs755485335 |
2004 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000212996 CA019607 RCV000058826 rs199473338 |
2006 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA352139087 rs45489199 |
2006 | P>T | Brugada syndrome 1 (brgda1) Sick sinus syndrome 1 (sss1) Long qt syndrome 3 (lqt3) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1553692276 CA352139004 |
2013 | E>* | No |
ClinGen Ensembl |
|
|
rs1156814109 CA352138995 |
2013 | E>D | No |
ClinGen gnomAD |
|
|
rs1452973930 CA352138987 |
2014 | S>C | No |
ClinGen gnomAD |
|
|
CA352138967 rs878857302 |
2016 | V>A | No |
ClinGen TOPMed |
|
|
CA72937629 rs878857302 |
2016 | V>E | No |
ClinGen TOPMed |
|
|
rs762981322 CA352138971 |
2016 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352138961 rs1212383086 |
2017 | V>R | No |
ClinGen gnomAD |
9 associated diseases with Q14524
[MIM: 113900]: Progressive familial heart block 1A (PFHB1A)
A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. {ECO:0000269|PubMed:11234013, ECO:0000269|PubMed:11804990, ECO:0000269|PubMed:12569159, ECO:0000269|PubMed:12574143, ECO:0000269|PubMed:19251209, ECO:0000269|PubMed:23420830}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 603830]: Long QT syndrome 3 (LQT3)
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:10377081, ECO:0000269|PubMed:10508990, ECO:0000269|PubMed:10590249, ECO:0000269|PubMed:10627139, ECO:0000269|PubMed:10911008, ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:11304498, ECO:0000269|PubMed:11410597, ECO:0000269|PubMed:11710892, ECO:0000269|PubMed:11889015, ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12209021, ECO:0000269|PubMed:12454206, ECO:0000269|PubMed:12673799, ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16414944, ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:18060054, ECO:0000269|PubMed:18378609, ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18708744, ECO:0000269|PubMed:18848812, ECO:0000269|PubMed:18929331, ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:26392562, ECO:0000269|PubMed:7651517, ECO:0000269|PubMed:7889574, ECO:0000269|PubMed:8541846, ECO:0000269|PubMed:9506831, ECO:0000269|PubMed:9686753, ECO:0000269|Ref.35}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601144]: Brugada syndrome 1 (BRGDA1)
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:10532948, ECO:0000269|PubMed:10618304, ECO:0000269|PubMed:10690282, ECO:0000269|PubMed:11410597, ECO:0000269|PubMed:11748104, ECO:0000269|PubMed:11823453, ECO:0000269|PubMed:11901046, ECO:0000269|PubMed:12051963, ECO:0000269|PubMed:12106943, ECO:0000269|PubMed:15023552, ECO:0000269|PubMed:15338453, ECO:0000269|PubMed:15579534, ECO:0000269|PubMed:15851320, ECO:0000269|PubMed:16266370, ECO:0000269|PubMed:16325048, ECO:0000269|PubMed:16616735, ECO:0000269|PubMed:17075016, ECO:0000269|PubMed:17081365, ECO:0000269|PubMed:17198989, ECO:0000269|PubMed:18252757, ECO:0000269|PubMed:18341814, ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18456723, ECO:0000269|PubMed:18616619, ECO:0000269|PubMed:19251209, ECO:0000269|PubMed:19272188, ECO:0000269|PubMed:20129283, ECO:0000269|PubMed:23085483, ECO:0000269|PubMed:23420830, ECO:0000269|PubMed:24167619, ECO:0000269|PubMed:26279430, ECO:0000269|PubMed:26776555, ECO:0000269|PubMed:32850980, ECO:0000269|PubMed:9521325}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 608567]: Sick sinus syndrome 1 (SSS1)
The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood. {ECO:0000269|PubMed:11748104, ECO:0000269|PubMed:14523039, ECO:0000269|PubMed:22795782}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 603829]: Familial paroxysmal ventricular fibrillation 1 (VF1)
A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. {ECO:0000269|PubMed:10940383}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 272120]: Sudden infant death syndrome (SIDS)
SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269|PubMed:18596570, ECO:0000269|PubMed:19302788}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 108770]: Atrial standstill 1 (ATRST1)
A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO:0000269|PubMed:12522116, ECO:0000269|PubMed:23420830}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A mutation in SCN5A has been detected in combination with a rare GJA5 genotype in a large family with atrial standstill.
[MIM: 601154]: Cardiomyopathy, dilated 1E (CMD1E)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:15466643, ECO:0000269|PubMed:23420830}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614022]: Atrial fibrillation, familial, 10 (ATFB10)
A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:18088563, ECO:0000269|PubMed:18378609}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. {ECO:0000269|PubMed:11234013, ECO:0000269|PubMed:11804990, ECO:0000269|PubMed:12569159, ECO:0000269|PubMed:12574143, ECO:0000269|PubMed:19251209, ECO:0000269|PubMed:23420830}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:10377081, ECO:0000269|PubMed:10508990, ECO:0000269|PubMed:10590249, ECO:0000269|PubMed:10627139, ECO:0000269|PubMed:10911008, ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:11304498, ECO:0000269|PubMed:11410597, ECO:0000269|PubMed:11710892, ECO:0000269|PubMed:11889015, ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12209021, ECO:0000269|PubMed:12454206, ECO:0000269|PubMed:12673799, ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16414944, ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:18060054, ECO:0000269|PubMed:18378609, ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18708744, ECO:0000269|PubMed:18848812, ECO:0000269|PubMed:18929331, ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:26392562, ECO:0000269|PubMed:7651517, ECO:0000269|PubMed:7889574, ECO:0000269|PubMed:8541846, ECO:0000269|PubMed:9506831, ECO:0000269|PubMed:9686753, ECO:0000269|Ref.35}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:10532948, ECO:0000269|PubMed:10618304, ECO:0000269|PubMed:10690282, ECO:0000269|PubMed:11410597, ECO:0000269|PubMed:11748104, ECO:0000269|PubMed:11823453, ECO:0000269|PubMed:11901046, ECO:0000269|PubMed:12051963, ECO:0000269|PubMed:12106943, ECO:0000269|PubMed:15023552, ECO:0000269|PubMed:15338453, ECO:0000269|PubMed:15579534, ECO:0000269|PubMed:15851320, ECO:0000269|PubMed:16266370, ECO:0000269|PubMed:16325048, ECO:0000269|PubMed:16616735, ECO:0000269|PubMed:17075016, ECO:0000269|PubMed:17081365, ECO:0000269|PubMed:17198989, ECO:0000269|PubMed:18252757, ECO:0000269|PubMed:18341814, ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18456723, ECO:0000269|PubMed:18616619, ECO:0000269|PubMed:19251209, ECO:0000269|PubMed:19272188, ECO:0000269|PubMed:20129283, ECO:0000269|PubMed:23085483, ECO:0000269|PubMed:23420830, ECO:0000269|PubMed:24167619, ECO:0000269|PubMed:26279430, ECO:0000269|PubMed:26776555, ECO:0000269|PubMed:32850980, ECO:0000269|PubMed:9521325}. Note=The disease is caused by variants affecting the gene represented in this entry.
- The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood. {ECO:0000269|PubMed:11748104, ECO:0000269|PubMed:14523039, ECO:0000269|PubMed:22795782}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. {ECO:0000269|PubMed:10940383}. Note=The disease is caused by variants affecting the gene represented in this entry.
- SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269|PubMed:18596570, ECO:0000269|PubMed:19302788}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO:0000269|PubMed:12522116, ECO:0000269|PubMed:23420830}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A mutation in SCN5A has been detected in combination with a rare GJA5 genotype in a large family with atrial standstill.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:15466643, ECO:0000269|PubMed:23420830}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:18088563, ECO:0000269|PubMed:18378609}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for Q14524
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ion transport domain | 130 - 422 | IPR005821-1 |
| domain | Ion transport domain | 718 - 943 | IPR005821-2 |
| domain | Ion transport domain | 1204 - 1479 | IPR005821-3 |
| domain | Ion transport domain | 1528 - 1782 | IPR005821-4 |
| domain | Sodium ion transport-associated domain | 953 - 1200 | IPR010526 |
| domain | Voltage-gated Na+ ion channel, cytoplasmic domain | 508 - 667 | IPR024583 |
| domain | Voltage-gated sodium channel alpha subunit, inactivation gate | 1471 - 1523 | IPR044564 |
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
| voltage-gated sodium channel complex | A sodium channel in a cell membrane whose opening is governed by the membrane potential. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
17 GO annotations of molecular function
| Name | Definition |
|---|---|
| ankyrin binding | Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| fibroblast growth factor binding | Binding to a fibroblast growth factor. |
| nitric-oxide synthase binding | Binding to nitric-oxide synthase. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| voltage-gated ion channel activity | Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity involved in AV node cell action potential | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel through the plasma membrane of an AV node cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity involved in bundle of His cell action potential | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel through the plasma membrane of a bundle of His cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity involved in cardiac muscle cell action potential | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel through the plasma membrane of a cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity involved in Purkinje myocyte action potential | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel through the plasma membrane of a Purkinje myocyte contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity involved in SA node cell action potential | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel through the plasma membrane of an SA node cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
38 GO annotations of biological process
| Name | Definition |
|---|---|
| atrial cardiac muscle cell action potential | An action potential that occurs in an atrial cardiac muscle cell. |
| AV node cell action potential | An action potential that occurs in an atrioventricular node cardiac muscle cell. |
| AV node cell to bundle of His cell communication | The process that mediates interactions between an AV node cell and its surroundings that contributes to the process of the AV node cell communicating with a bundle of His cell in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. |
| brainstem development | The progression of the brainstem from its formation to the mature structure. The brainstem is the part of the brain that connects the brain with the spinal cord. |
| bundle of His cell action potential | An action potential that occurs in a bundle of His cell. |
| cardiac conduction system development | The process whose specific outcome is the progression of the cardiac conduction system over time, from its formation to the mature structure. The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat. |
| cardiac muscle cell action potential involved in contraction | An action potential that occurs in a cardiac muscle cell and is involved in its contraction. |
| cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
| cardiac ventricle development | The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| cerebellum development | The process whose specific outcome is the progression of the cerebellum over time, from its formation to the mature structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. In mice, the cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills. |
| membrane depolarization | The process in which membrane potential decreases with respect to its steady-state potential, usually from negative potential to a more positive potential. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative steady-state resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during action potential | The process in which membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during atrial cardiac muscle cell action potential | The process in which atrial cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during AV node cell action potential | The process in which AV node cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during bundle of His cell action potential | The process in which bundle of His cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during cardiac muscle cell action potential | The process in which cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during Purkinje myocyte cell action potential | The process in which Purkinje myocyte membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during SA node cell action potential | The process in which SA node cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| neuronal action potential | An action potential that occurs in a neuron. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| positive regulation of action potential | Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| positive regulation of epithelial cell proliferation | Any process that activates or increases the rate or extent of epithelial cell proliferation. |
| positive regulation of sodium ion transport | Any process that increases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of atrial cardiac muscle cell membrane depolarization | Any process that modulates the establishment or extent of a membrane potential in the depolarizing direction away from the resting potential in an atrial cardiomyocyte. |
| regulation of atrial cardiac muscle cell membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in an atrial cardiomyocyte. |
| regulation of cardiac muscle cell contraction | Any process that modulates the frequency, rate or extent of cardiac muscle cell contraction. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of heart rate by cardiac conduction | A cardiac conduction process that modulates the frequency or rate of heart contraction. |
| regulation of sodium ion transmembrane transport | Any process that modulates the frequency, rate or extent of sodium ion transmembrane transport. |
| regulation of ventricular cardiac muscle cell membrane depolarization | Any process that modulates the establishment or extent of a membrane potential in the depolarizing direction away from the resting potential in a ventricular cardiomyocyte. |
| regulation of ventricular cardiac muscle cell membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
| response to denervation involved in regulation of muscle adaptation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a denervation stimulus. This process occurs as part of the regulation of muscle adaptation. |
| SA node cell action potential | An action potential that occurs in a sinoatrial node cardiac muscle cell. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| telencephalon development | The process whose specific outcome is the progression of the telencephalon over time, from its formation to the mature structure. The telencephalon is the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived. |
| ventricular cardiac muscle cell action potential | An action potential that occurs in a ventricular cardiac muscle cell. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6YLX9 | TPC1 | Two pore calcium channel protein 1 | Triticum aestivum (Wheat) | PR |
| P91645 | MED20 | Voltage-dependent calcium channel type A subunit alpha-1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XQ3 | CATSPER3 | Cation channel sperm-associated protein 3 | Homo sapiens (Human) | PR |
| Q96P56 | CATSPER2 | Cation channel sperm-associated protein 2 | Homo sapiens (Human) | PR |
| Q9Y5Y9 | SCN10A | Sodium channel protein type 10 subunit alpha | Homo sapiens (Human) | PR |
| Q9UQD0 | SCN8A | Sodium channel protein type 8 subunit alpha | Homo sapiens (Human) | PR |
| A2ARP9 | Catsper2 | Cation channel sperm-associated protein 2 | Mus musculus (Mouse) | PR |
| Q9WTU3 | Scn8a | Sodium channel protein type 8 subunit alpha | Mus musculus (Mouse) | PR |
| Q6QIY3 | Scn10a | Sodium channel protein type 10 subunit alpha | Mus musculus (Mouse) | PR |
| Q62205 | Scn9a | Sodium channel protein type 9 subunit alpha | Mus musculus (Mouse) | PR |
| Q9JJV9 | Scn5a | Sodium channel protein type 5 subunit alpha | Mus musculus (Mouse) | PR |
| O88420 | Scn8a | Sodium channel protein type 8 subunit alpha | Rattus norvegicus (Rat) | PR |
| O88457 | Scn11a | Sodium channel protein type 11 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q62968 | Scn10a | Sodium channel protein type 10 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q5QM84 | TPC1 | Two pore calcium channel protein 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q94KI8 | TPC1 | Two pore calcium channel protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANFLLPRGT | SSFRRFTRES | LAAIEKRMAE | KQARGSTTLQ | ESREGLPEEE | APRPQLDLQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKKLPDLYGN | PPQELIGEPL | EDLDPFYSTQ | KTFIVLNKGK | TIFRFSATNA | LYVLSPFHPI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRAAVKILVH | SLFNMLIMCT | ILTNCVFMAQ | HDPPPWTKYV | EYTFTAIYTF | ESLVKILARG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FCLHAFTFLR | DPWNWLDFSV | IIMAYTTEFV | DLGNVSALRT | FRVLRALKTI | SVISGLKTIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GALIQSVKKL | ADVMVLTVFC | LSVFALIGLQ | LFMGNLRHKC | VRNFTALNGT | NGSVEADGLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WESLDLYLSD | PENYLLKNGT | SDVLLCGNSS | DAGTCPEGYR | CLKAGENPDH | GYTSFDSFAW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AFLALFRLMT | QDCWERLYQQ | TLRSAGKIYM | IFFMLVIFLG | SFYLVNLILA | VVAMAYEEQN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QATIAETEEK | EKRFQEAMEM | LKKEHEALTI | RGVDTVSRSS | LEMSPLAPVN | SHERRSKRRK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RMSSGTEECG | EDRLPKSDSE | DGPRAMNHLS | LTRGLSRTSM | KPRSSRGSIF | TFRRRDLGSE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ADFADDENST | AGESESHHTS | LLVPWPLRRT | SAQGQPSPGT | SAPGHALHGK | KNSTVDCNGV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSLLGAGDPE | ATSPGSHLLR | PVMLEHPPDT | TTPSEEPGGP | QMLTSQAPCV | DGFEEPGARQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RALSAVSVLT | SALEELEESR | HKCPPCWNRL | AQRYLIWECC | PLWMSIKQGV | KLVVMDPFTD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LTITMCIVLN | TLFMALEHYN | MTSEFEEMLQ | VGNLVFTGIF | TAEMTFKIIA | LDPYYYFQQG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| WNIFDSIIVI | LSLMELGLSR | MSNLSVLRSF | RLLRVFKLAK | SWPTLNTLIK | IIGNSVGALG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NLTLVLAIIV | FIFAVVGMQL | FGKNYSELRD | SDSGLLPRWH | MMDFFHAFLI | IFRILCGEWI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ETMWDCMEVS | GQSLCLLVFL | LVMVIGNLVV | LNLFLALLLS | SFSADNLTAP | DEDREMNNLQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LALARIQRGL | RFVKRTTWDF | CCGLLRQRPQ | KPAALAAQGQ | LPSCIATPYS | PPPPETEKVP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PTRKETRFEE | GEQPGQGTPG | DPEPVCVPIA | VAESDTDDQE | EDEENSLGTE | EESSKQQESQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PVSGGPEAPP | DSRTWSQVSA | TASSEAEASA | SQADWRQQWK | AEPQAPGCGE | TPEDSCSEGS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TADMTNTAEL | LEQIPDLGQD | VKDPEDCFTE | GCVRRCPCCA | VDTTQAPGKV | WWRLRKTCYH |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| IVEHSWFETF | IIFMILLSSG | ALAFEDIYLE | ERKTIKVLLE | YADKMFTYVF | VLEMLLKWVA |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| YGFKKYFTNA | WCWLDFLIVD | VSLVSLVANT | LGFAEMGPIK | SLRTLRALRP | LRALSRFEGM |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| RVVVNALVGA | IPSIMNVLLV | CLIFWLIFSI | MGVNLFAGKF | GRCINQTEGD | LPLNYTIVNN |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| KSQCESLNLT | GELYWTKVKV | NFDNVGAGYL | ALLQVATFKG | WMDIMYAAVD | SRGYEEQPQW |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| EYNLYMYIYF | VIFIIFGSFF | TLNLFIGVII | DNFNQQKKKL | GGQDIFMTEE | QKKYYNAMKK |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| LGSKKPQKPI | PRPLNKYQGF | IFDIVTKQAF | DVTIMFLICL | NMVTMMVETD | DQSPEKINIL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| AKINLLFVAI | FTGECIVKLA | ALRHYYFTNS | WNIFDFVVVI | LSIVGTVLSD | IIQKYFFSPT |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LFRVIRLARI | GRILRLIRGA | KGIRTLLFAL | MMSLPALFNI | GLLLFLVMFI | YSIFGMANFA |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| YVKWEAGIDD | MFNFQTFANS | MLCLFQITTS | AGWDGLLSPI | LNTGPPYCDP | TLPNSNGSRG |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| DCGSPAVGIL | FFTTYIIISF | LIVVNMYIAI | ILENFSVATE | ESTEPLSEDD | FDMFYEIWEK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| FDPEATQFIE | YSVLSDFADA | LSEPLRIAKP | NQISLINMDL | PMVSGDRIHC | MDILFAFTKR |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| VLGESGEMDA | LKIQMEEKFM | AANPSKISYE | PITTTLRRKH | EEVSAMVIQR | AFRRHLLQRS |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| LKHASFLFRQ | QAGSGLSEED | APEREGLIAY | VMSENFSRPL | GPPSSSSISS | TSFPPSYDSV |
| 1990 | 2000 | 2010 | |||
| TRATSDNLQV | RGSDYSHSED | LADFPPSPDR | DRESIV |