1,579 Matching Annotations
  1. Mar 2021
  2. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    147
    1. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 29

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:51 CAID:CA017913 ClinVarID:67864
    2. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 25

      StandardErrorMean: 0.2

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:50 CAID:CA352146767
    3. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 102.6

      AssayResultAssertion: Normal

      ReplicateCount: 31

      StandardErrorMean: 16.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:47 CAID:CA017837 ClinVarID:67857
    4. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 0.7

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:46 CAID:CA017808 ClinVarID:67854
    5. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 12

      AssayResultAssertion: Abnormal

      ReplicateCount: 10

      StandardErrorMean: 2.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:45 CAID:CA017796 ClinVarID:67852
    6. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 102.4

      AssayResultAssertion: Normal

      ReplicateCount: 39

      StandardErrorMean: 15.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:43 CAID:CA017557 ClinVarID:67830
    7. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 47

      AssayResultAssertion: Indeterminate

      ReplicateCount: 10

      StandardErrorMean: 15.5

      Comment: This variant had a mix of multiple abnormalities: a partial loss of function of peak current (10-50% of wildtype) and a gain of function >10mV shift in activation voltage. Therefore it was considered to have inconclusive in vitro properties (neither normal nor abnormal in vitro function). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:41 CAID:CA017513 ClinVarID:9399
    8. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 114.7

      AssayResultAssertion: Normal

      ReplicateCount: 42

      StandardErrorMean: 15.2

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:39 CAID:CA017472 ClinVarID:67820
    9. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 36

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 5.9

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:38 CAID:CA017399 ClinVarID:67810
    10. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 121.4

      AssayResultAssertion: Normal

      ReplicateCount: 34

      StandardErrorMean: 13.2

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:35 CAID:CA352139743
    11. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 27

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:33 CAID:CA016490 ClinVarID:67757
    12. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 29.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 13

      StandardErrorMean: 5.7

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:32 CAID:CA016482 ClinVarID:67756
    13. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 0.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:30 CAID:CA016428 ClinVarID:67752
    14. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 23

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:28 CAID:CA016384 ClinVarID:67747
    15. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 43

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:27 CAID:CA352141945
    16. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 16

      AssayResultAssertion: Abnormal

      ReplicateCount: 26

      StandardErrorMean: 2.3

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:26 CAID:CA016274 ClinVarID:67742
    17. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 2.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 20

      StandardErrorMean: 2.1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:25 CAID:CA016228 ClinVarID:67737
    18. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 117.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 36

      StandardErrorMean: 11.7

      Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:22 CAID:CA016182 ClinVarID:67732
    19. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 21

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 5.1

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:21 CAID:CA060381 ClinVarID:628262
    20. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 38.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 27

      StandardErrorMean: 7.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:20 CAID:CA352143353
    21. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 120.5

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 10.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:19 CAID:CA016076 ClinVarID:67727
    22. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 105.3

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 10.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:18 CAID:CA016059 ClinVarID:48294
    23. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 77.5

      AssayResultAssertion: Normal

      ReplicateCount: 30

      StandardErrorMean: 8.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:17 CAID:CA352143498
    24. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 41.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 10.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA015974 ClinVarID:67721
    25. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 63.8

      AssayResultAssertion: Indeterminate

      ReplicateCount: 25

      StandardErrorMean: 10.1

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:13 CAID:CA015925 ClinVarID:67719
    26. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:14 CAID:CA015938 ClinVarID:67720
    27. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 68.1

      AssayResultAssertion: Indeterminate

      ReplicateCount: 18

      StandardErrorMean: 8.7

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:12 CAID:CA352144555
    28. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 32

      AssayResultAssertion: Abnormal

      ReplicateCount: 31

      StandardErrorMean: 5

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:9 CAID:CA014455 ClinVarID:67642
    29. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 11

      StandardErrorMean: 0.7

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:8 CAID:CA014429 ClinVarID:67640
    30. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 22

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:7 CAID:CA014336 ClinVarID:67635
    31. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 39

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:6 CAID:CA014324 ClinVarID:67634
    32. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 25

      StandardErrorMean: 0.4

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:5 CAID:CA014305 ClinVarID:67633
    33. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 28.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 21

      StandardErrorMean: 7.6

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:3 CAID:CA057036 ClinVarID:229230
    34. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 113.2

      AssayResultAssertion: Normal

      ReplicateCount: 30

      StandardErrorMean: 13.9

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA352149766
    35. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 24

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:1 CAID:CA352149916
    36. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 67

      StandardErrorMean: 0.3

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:81 CAID:CA019844 ClinVarID:68047
    37. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:80 CAID:CA019833 ClinVarID:68045
    38. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 34.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 6.7

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:79 CAID:CA019709 ClinVarID:68031
    39. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 109.6

      AssayResultAssertion: Normal

      ReplicateCount: 11

      StandardErrorMean: 19.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:74 CAID:CA019140 ClinVarID:67986
    40. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 117.8

      AssayResultAssertion: Normal

      ReplicateCount: 15

      StandardErrorMean: 14.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:73 CAID:CA019045 ClinVarID:67971
    41. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 39

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 6.4

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:48 CAID:CA017871 ClinVarID:67861
    42. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 119.6

      AssayResultAssertion: Normal

      ReplicateCount: 22

      StandardErrorMean: 19.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:36 CAID:CA016995 ClinVarID:67787
    43. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 0.2

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:34 CAID:CA016523 ClinVarID:67758
    44. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 32.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 5

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:24 CAID:CA016221 ClinVarID:67736
    45. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 89.4

      AssayResultAssertion: Normal

      ReplicateCount: 26

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:72 CAID:CA064275 ClinVarID:463345 ValidationControl:Benign
    46. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 85.1

      AssayResultAssertion: Normal

      ReplicateCount: 35

      StandardErrorMean: 10.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:49 CAID:CA017888 ClinVarID:201506 ValidationControl:Benign
    47. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 103.2

      AssayResultAssertion: Normal

      ReplicateCount: 33

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA017547 ClinVarID:67829 ValidationControl:Benign
    48. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 120.5

      AssayResultAssertion: Normal

      ReplicateCount: 33

      StandardErrorMean: 13.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA017494 ClinVarID:67824 ValidationControl:Benign
    49. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 94.8

      AssayResultAssertion: Normal

      ReplicateCount: 33

      StandardErrorMean: 12.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:31 CAID:CA016475 ClinVarID:48295 ValidationControl:Benign
    50. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 109.1

      AssayResultAssertion: Normal

      ReplicateCount: 26

      StandardErrorMean: 14.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA016206 ClinVarID:67734 ValidationControl:Benign
    51. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 101

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 8.9

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA059817 ClinVarID:242192 ValidationControl:Benign
    52. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 104.3

      AssayResultAssertion: Normal

      ReplicateCount: 30

      StandardErrorMean: 16.3

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:83 CAID:CA019926 ClinVarID:68055 ValidationControl:Benign
    53. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 105.8

      AssayResultAssertion: Normal

      ReplicateCount: 36

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:82 CAID:CA019856 ClinVarID:68049 ValidationControl:Benign
    54. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 103.2

      AssayResultAssertion: Normal

      ReplicateCount: 37

      StandardErrorMean: 21.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA064027 ValidationControl:Benign
    55. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 51.9

      AssayResultAssertion: Indeterminate

      ReplicateCount: 12

      StandardErrorMean: 18.8

      Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It had unmeasured late current, but has been previously reported to have high late current (GOF feature). Therefore it was considered to meet neither the abnormal or normal functional parameter. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:75 CAID:CA019148 ClinVarID:9377
    56. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 64.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 31

      StandardErrorMean: 11.1

      Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It also had a very large increase in recovery from inactivation (>10-fold slower). Therefore it was considered to have a partial loss of function (in vitro function consistent with Brugada Syndrome). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:63 CAID:CA018735 ClinVarID:67939
    57. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 2.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:58 CAID:CA018087 ClinVarID:67877
    58. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 114.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 22.4

      Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:44 CAID:CA017679 ClinVarID:9370
    59. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 23.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 7.1

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:16 CAID:CA016002 ClinVarID:67723
    60. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 113

      AssayResultAssertion: Normal

      ReplicateCount: 17

      StandardErrorMean: 28.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:10 CAID:CA058963
    61. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 0.1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:4 CAID:CA014257 ClinVarID:67631
    62. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 86.7

      AssayResultAssertion: Normal

      ReplicateCount: 28

      StandardErrorMean: 8.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:78 CAID:CA019690 ClinVarID:9396
    63. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 17

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:37 CAID:CA017341 ClinVarID:67807
    64. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 115.6

      AssayResultAssertion: Normal

      ReplicateCount: 19

      StandardErrorMean: 24.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:29 CAID:CA016420 ClinVarID:67751
    65. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5872C>T p.(Arg1958Ter)

      CGType:Variant CG:BulkAnnotation Variant:77 ClinVarID:201546 CAID:CA019516
    66. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5692C>T p.(Arg1898Cys)

      CGType:Variant CG:BulkAnnotation Variant:76 ClinVarID:518750 CAID:CA064645
    67. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5189C>A p.(Pro1730His)

      CGType:Variant CG:BulkAnnotation Variant:71 CAID:CA352142022
    68. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5164A>G p.(Asn1722Asp)

      CGType:Variant CG:BulkAnnotation Variant:70 ClinVarID:67960 CAID:CA018943
    69. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5126C>T p.(Thr1709Met)

      CGType:Variant CG:BulkAnnotation Variant:69 ClinVarID:67957 CAID:CA018904
    70. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5038G>A p.(Ala1680Thr)

      CGType:Variant CG:BulkAnnotation Variant:68 ClinVarID:67952 CAID:CA018863
    71. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5015C>A p.(Ser1672Tyr)

      CGType:Variant CG:BulkAnnotation Variant:67 ClinVarID:67951 CAID:CA018848
    72. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4981G>A p.(Gly1661Arg)

      CGType:Variant CG:BulkAnnotation Variant:66 ClinVarID:201523 CAID:CA018812
    73. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4925G>A p.(Gly1642Glu)

      CGType:Variant CG:BulkAnnotation Variant:64 ClinVarID:67940 CAID:CA018747
    74. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4747C>T p.(Arg1583Cys)

      CGType:Variant CG:BulkAnnotation Variant:62 ClinVarID:67920 CAID:CA018516
    75. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4720G>A p.(Glu1574Lys)

      CGType:Variant CG:BulkAnnotation Variant:61 ClinVarID:67918 CAID:CA018503
    76. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4382C>G p.(Thr1461Ser)

      CGType:Variant CG:BulkAnnotation Variant:60 CAID:CA352145324
    77. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4346A>G p.(Tyr1449Cys)

      CGType:Variant CG:BulkAnnotation Variant:59 ClinVarID:67884 CAID:CA018163
    78. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4283C>T p.(Ala1428Val)

      CGType:Variant CG:BulkAnnotation Variant:57 ClinVarID:67876 CAID:CA018079
    79. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4259G>T p.(Gly1420Val)

      CGType:Variant CG:BulkAnnotation Variant:56 ClinVarID:67874 CAID:CA018048
    80. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4258G>C p.(Gly1420Arg)

      CGType:Variant CG:BulkAnnotation Variant:55 ClinVarID:67873 CAID:CA018042
    81. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4217G>A p.(Gly1406Glu)

      CGType:Variant CG:BulkAnnotation Variant:54 ClinVarID:67869 CAID:CA017969
    82. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4213G>A p.(Val1405Met)

      CGType:Variant CG:BulkAnnotation Variant:52 ClinVarID:67866 CAID:CA017946
    83. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4213G>C p.(Val1405Leu)

      CGType:Variant CG:BulkAnnotation Variant:53 ClinVarID:67867 CAID:CA017955
    84. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4145G>T p.(Ser1382Ile)

      CGType:Variant CG:BulkAnnotation Variant:51 ClinVarID:67864 CAID:CA017913
    85. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4140C>A p.(Asn1380Lys)

      CGType:Variant CG:BulkAnnotation Variant:50 CAID:CA352146767
    86. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4057G>A p.(Val1353Met)

      CGType:Variant CG:BulkAnnotation Variant:47 ClinVarID:67857 CAID:CA017837
    87. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4037T>C p.(Leu1346Pro)

      CGType:Variant CG:BulkAnnotation Variant:46 ClinVarID:67854 CAID:CA017808
    88. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4035G>T p.(Trp1345Cys)

      CGType:Variant CG:BulkAnnotation Variant:45 ClinVarID:67852 CAID:CA017796
    89. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3841G>T p.(Val1281Phe)

      CGType:Variant CG:BulkAnnotation Variant:43 ClinVarID:67830 CAID:CA017557
    90. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3784G>A p.(Gly1262Ser)

      CGType:Variant CG:BulkAnnotation Variant:41 ClinVarID:9399 CAID:CA017513
    91. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3727G>A p.(Asp1243Asn)

      CGType:Variant CG:BulkAnnotation Variant:39 ClinVarID:67820 CAID:CA017472
    92. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3673G>A p.(Glu1225Lys)

      CGType:Variant CG:BulkAnnotation Variant:38 ClinVarID:67810 CAID:CA017399
    93. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3040C>T p.(Pro1014Ser)

      CGType:Variant CG:BulkAnnotation Variant:35 CAID:CA352139743
    94. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2783T>C p.(Leu928Pro)

      CGType:Variant CG:BulkAnnotation Variant:33 ClinVarID:67757 CAID:CA016490
    95. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2780A>G p.(Asn927Ser)

      CGType:Variant CG:BulkAnnotation Variant:32 ClinVarID:67756 CAID:CA016482
    96. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2701G>A p.(Glu901Lys)

      CGType:Variant CG:BulkAnnotation Variant:30 ClinVarID:67752 CAID:CA016428
    97. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2674T>A p.(Phe892Ile)

      CGType:Variant CG:BulkAnnotation Variant:28 ClinVarID:67747 CAID:CA016384
    98. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2635T>C p.(Trp879Arg)

      CGType:Variant CG:BulkAnnotation Variant:27 CAID:CA352141945
    99. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2553C>A p.(Phe851Leu)

      CGType:Variant CG:BulkAnnotation Variant:26 ClinVarID:67742 CAID:CA016274
    100. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2516T>C p.(Leu839Pro)

      CGType:Variant CG:BulkAnnotation Variant:25 ClinVarID:67737 CAID:CA016228
    101. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2441G>A p.(Arg814Gln)

      CGType:Variant CG:BulkAnnotation Variant:22 ClinVarID:67732 CAID:CA016182
    102. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2422C>T p.(Arg808Cys)

      CGType:Variant CG:BulkAnnotation Variant:21 ClinVarID:628262 CAID:CA060381
    103. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2353G>A p.(Asp785Asn)

      CGType:Variant CG:BulkAnnotation Variant:20 CAID:CA352143353
    104. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2317C>T p.(Pro773Ser)

      CGType:Variant CG:BulkAnnotation Variant:19 ClinVarID:67727 CAID:CA016076
    105. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2314G>A p.(Asp772Asn)

      CGType:Variant CG:BulkAnnotation Variant:18 ClinVarID:48294 CAID:CA016059
    106. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2291T>A p.(Met764Lys)

      CGType:Variant CG:BulkAnnotation Variant:17 CAID:CA352143498
    107. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2236G>A p.(Glu746Lys)

      CGType:Variant CG:BulkAnnotation Variant:15 ClinVarID:67721 CAID:CA015974
    108. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2203G>A p.(Ala735Thr)

      CGType:Variant CG:BulkAnnotation Variant:13 ClinVarID:67719 CAID:CA015925
    109. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2204C>A p.(Ala735Glu)

      CGType:Variant CG:BulkAnnotation Variant:14 ClinVarID:67720 CAID:CA015938
    110. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2200A>G p.(Met734Val)

      CGType:Variant CG:BulkAnnotation Variant:12 CAID:CA352144555
    111. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1186G>C p.(Val396Leu)

      CGType:Variant CG:BulkAnnotation Variant:9 ClinVarID:67642 CAID:CA014455
    112. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1156G>A p.(Gly386Arg)

      CGType:Variant CG:BulkAnnotation Variant:8 ClinVarID:67640 CAID:CA014429
    113. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1106T>A p.(Met369Lys)

      CGType:Variant CG:BulkAnnotation Variant:7 ClinVarID:67635 CAID:CA014336
    114. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1100G>T p.(Arg367Leu)

      CGType:Variant CG:BulkAnnotation Variant:6 ClinVarID:67634 CAID:CA014324
    115. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1099C>T p.(Arg367Cys)

      CGType:Variant CG:BulkAnnotation Variant:5 ClinVarID:67633 CAID:CA014305
    116. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1045G>A p.(Asp349Asn)

      CGType:Variant CG:BulkAnnotation Variant:3 ClinVarID:229230 CAID:CA057036
    117. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1038G>T p.(Glu346Asp)

      CGType:Variant CG:BulkAnnotation Variant:2 CAID:CA352149766
    118. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1003T>C p.(Cys335Arg)

      CGType:Variant CG:BulkAnnotation Variant:1 CAID:CA352149916
    119. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.844C>T p.(Arg282Cys)

      CGType:Variant CG:BulkAnnotation Variant:81 ClinVarID:68047 CAID:CA019844
    120. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.827T>A p.(Leu276Gln)

      CGType:Variant CG:BulkAnnotation Variant:80 ClinVarID:68045 CAID:CA019833
    121. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.667G>C p.(Val223Leu)

      CGType:Variant CG:BulkAnnotation Variant:79 ClinVarID:68031 CAID:CA019709
    122. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.533C>G p.(Ala178Gly)

      CGType:Variant CG:BulkAnnotation Variant:74 ClinVarID:67986 CAID:CA019140
    123. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.525G>C p.(Lys175Asn)

      CGType:Variant CG:BulkAnnotation Variant:73 ClinVarID:67971 CAID:CA019045
    124. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.407T>C p.(Leu136Pro)

      CGType:Variant CG:BulkAnnotation Variant:48 ClinVarID:67861 CAID:CA017871
    125. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.327C>A p.(Asn109Lys)

      CGType:Variant CG:BulkAnnotation Variant:36 ClinVarID:67787 CAID:CA016995
    126. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.278T>C p.(Phe93Ser)

      CGType:Variant CG:BulkAnnotation Variant:34 ClinVarID:67758 CAID:CA016523
    127. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.250G>A p.(Asp84Asn)

      CGType:Variant CG:BulkAnnotation Variant:24 ClinVarID:67736 CAID:CA016221
    128. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5237C>T p.(Ala1746Val)

      CGType:Variant CG:BulkAnnotation Variant:72 ClinVarID:463345 CAID:CA064275
    129. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4109A>G p.(Asp1370Gly)

      CGType:Variant CG:BulkAnnotation Variant:49 ClinVarID:201506 CAID:CA017888
    130. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3835G>A p.(Val1279Ile)

      CGType:Variant CG:BulkAnnotation Variant:42 ClinVarID:67829 CAID:CA017547
    131. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3751G>A p.(Val1251Met)

      CGType:Variant CG:BulkAnnotation Variant:40 ClinVarID:67824 CAID:CA017494
    132. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2770G>A p.(Val924Ile)

      CGType:Variant CG:BulkAnnotation Variant:31 ClinVarID:48295 CAID:CA016475
    133. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2497G>A p.(Gly833Arg)

      CGType:Variant CG:BulkAnnotation Variant:23 ClinVarID:67734 CAID:CA016206
    134. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2141T>C p.(Val714Ala)

      CGType:Variant CG:BulkAnnotation Variant:11 ClinVarID:242192 CAID:CA059817
    135. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.895T>A p.(Leu299Met)

      CGType:Variant CG:BulkAnnotation Variant:83 ClinVarID:68055 CAID:CA019926
    136. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.856G>T p.(Ala286Ser)

      CGType:Variant CG:BulkAnnotation Variant:82 ClinVarID:68049 CAID:CA019856
    137. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.496G>A p.(Ala166Thr)

      CGType:Variant CG:BulkAnnotation Variant:65 CAID:CA064027
    138. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5350G>A p.(Glu1784Lys)

      CGType:Variant CG:BulkAnnotation Variant:75 ClinVarID:9377 CAID:CA019148
    139. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4895G>A p.(Arg1632His)

      CGType:Variant CG:BulkAnnotation Variant:63 ClinVarID:67939 CAID:CA018735
    140. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4294A>G p.(Arg1432Gly)

      CGType:Variant CG:BulkAnnotation Variant:58 ClinVarID:67877 CAID:CA018087
    141. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3974A>G p.(Asn1325Ser)

      CGType:Variant CG:BulkAnnotation Variant:44 ClinVarID:9370 CAID:CA017679
    142. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2254G>A p.(Gly752Arg)

      CGType:Variant CG:BulkAnnotation Variant:16 ClinVarID:67723 CAID:CA016002
    143. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1859G>A p.(Arg620His)

      CGType:Variant CG:BulkAnnotation Variant:10 CAID:CA058963
    144. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1058C>T p.(Thr353Ile)

      CGType:Variant CG:BulkAnnotation Variant:4 ClinVarID:67631 CAID:CA014257
    145. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.659C>T p.(Thr220Ile)

      CGType:Variant CG:BulkAnnotation Variant:78 ClinVarID:9396 CAID:CA019690
    146. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.361C>T p.(Arg121Trp)

      CGType:Variant CG:BulkAnnotation Variant:37 ClinVarID:67807 CAID:CA017341
    147. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.26G>T p.(Gly9Val)

      CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:67751 CAID:CA016420
    Visit annotations in context

    Tags

    Annotators

    URL

    cell.com/ajhg/fulltext/S0002-9297(20)30162-2
  3. www.theguardian.com www.theguardian.com
    How a string of failures by the British government helped Covid-19 to mutate | Anthony Costello
    1
    1. sophia.sterckx 15 Mar 2021

      the Guardian. ‘How a String of Failures by the British Government Helped Covid-19 to Mutate | Anthony Costello’, 22 December 2020. http://www.theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur.

      is:article lang:en COVID-19 british government failures mutation covid mutations coronavirus England UK United Kingdom supressing the virus zero covid mutant variant genetic sequences
    Visit annotations in context

    Tags

    Annotators

    URL

    theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur
  4. www.bloomberg.com www.bloomberg.com
    Moderna Plans Multi-Pronged Approach on Virus Variants
    1
    1. zoe_ikeotuonye 15 Mar 2021

      Moderna Plans Multi-Pronged Approach on Virus Variants. (2021, February 24). Bloomberg.Com. https://www.bloomberg.com/news/articles/2021-02-24/moderna-plans-multi-pronged-approach-to-tackling-virus-variants

      is:news COVID-19 virus variant vaccination vaccine policy health research pandemic strategy
    Visit annotations in context

    Tags

    Annotators

    URL

    bloomberg.com/news/articles/2021-02-24/moderna-plans-multi-pronged-approach-to-tackling-virus-variants
  5. www.newscientist.com www.newscientist.com
    What you need to know about the new variant of coronavirus in the UK
    1
    1. sophia.sterckx 15 Mar 2021

      Page, Michael Le. ‘What You Need to Know about the New Variant of Coronavirus in the UK’. New Scientist. Accessed 25 February 2021. https://www.newscientist.com/article/2263077-what-you-need-to-know-about-the-new-variant-of-coronavirus-in-the-uk/.

      is:news lang:en coronavirus COVID-19 United Kingdom UK new variant variant rapid spread transmissible spread of variant south africa vaccines lockdown pandemic quarantine
    Visit annotations in context

    Tags

    Annotators

    URL

    newscientist.com/article/2263077-what-you-need-to-know-about-the-new-variant-of-coronavirus-in-the-uk/
  6. www.nytimes.com www.nytimes.com
    As the U.S. surpasses 24 million cases, Los Angeles confronts a more contagious variant.
    1
    1. sophia.sterckx 15 Mar 2021

      Tompkins, Lucy, and Carl Zimmer. ‘As the U.S. Surpasses 24 Million Cases, Los Angeles Confronts a More Contagious Variant.’ The New York Times, 18 January 2021, sec. U.S. https://www.nytimes.com/2021/01/18/us/as-the-us-surpasses-24-million-cases-los-angeles-confronts-a-more-contagious-variant.html.

      is:article lang:en COVID-19 coronavirus hospitals United States USA coronavirus cases los angeles covid-19 death rates national death toll hospitalisation new variant spread of variant variant contagious
    Visit annotations in context

    Tags

    Annotators

    URL

    nytimes.com/2021/01/18/us/as-the-us-surpasses-24-million-cases-los-angeles-confronts-a-more-contagious-variant.html
  7. www.sciencemag.org www.sciencemag.org
    Mutant coronavirus in the United Kingdom sets off alarms, but its importance remains unclear
    1
    1. sophia.sterckx 15 Mar 2021

      ‘Mutant Coronavirus in the United Kingdom Sets off Alarms, but Its Importance Remains Unclear | Science | AAAS’. Accessed 25 February 2021. https://www.sciencemag.org/news/2020/12/mutant-coronavirus-united-kingdom-sets-alarms-its-importance-remains-unclear.

      is:article lang:en COVID-19 United Kingdom mutant mutation variant spread of corona pandemic global pandemic
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencemag.org/news/2020/12/mutant-coronavirus-united-kingdom-sets-alarms-its-importance-remains-unclear
  8. www.reuters.com www.reuters.com
    Exclusive: Oxford study indicates AstraZeneca effective against Brazil variant, source says
    1
    1. sophia.sterckx 15 Mar 2021

      Gaier, Rodrigo Viga. ‘Exclusive: Oxford Study Indicates AstraZeneca Effective against Brazil Variant, Source Says’. Reuters, 5 March 2021. https://www.reuters.com/article/us-health-coronavirus-brazil-variant-exc-idUSKBN2AX1NS.

      is:article lang:en Brazil Rio De Janeiro Oxford University COVID-19 vaccine AstraZeneca new variant variant efficacy of vaccine P1 south african variant
    Visit annotations in context

    Tags

    Annotators

    URL

    reuters.com/article/us-health-coronavirus-brazil-variant-exc-idUSKBN2AX1NS
  9. www.gov.uk www.gov.uk
    Investigation of novel SARS-CoV-2 variant: Variant of Concern 202012/01
    1
    1. emilybiggs 15 Mar 2021

      Investigation of novel SARS-CoV-2 variant: Variant of Concern 202012/01. (n.d.). GOV.UK. Retrieved March 11, 2021, from https://www.gov.uk/government/publications/investigation-of-novel-sars-cov-2-variant-variant-of-concern-20201201

      is:webpage lang:en COVID-19 government UK variant concern Public Health England investigation
    Visit annotations in context

    Tags

    Annotators

    URL

    gov.uk/government/publications/investigation-of-novel-sars-cov-2-variant-variant-of-concern-20201201
  10. github.com github.com
    Reopening #162: config.assets.debug = true still compiles everything into single CSS/JS files? · Issue #688 · rails/sprockets
    1
    1. TylerRick 10 Mar 2021
      Reopening #162

      https://github.com/rails/sprockets/issues/162 was already closed as duplicated (so this just creates another duplicate).

      Technically this could be added there.

      Oh, I see, it was from so long ago (2015), that it would probably be frowned upon to reopen such an old issue.

      issues: reopening why? when to create new issue/question vs. add additional details/variant to existing necroposting (posting to a long-inactive discussion thread)
    Visit annotations in context

    Tags

    Annotators

    URL

    github.com/rails/sprockets/issues/688
  11. www.medrxiv.org www.medrxiv.org
    Case fatality risk of the SARS-CoV-2 variant of concern B.1.1.7 in England
    1
    1. NatasjaDerbyMcCabe 10 Mar 2021

      Grint, D. J., Wing, K., Williamson, E., McDonald, H. I., Bhaskaran, K., Evans, D., Evans, S. J., Walker, A. J., Hickman, G., Nightingale, E., Schultze, A., Rentsch, C. T., Bates, C., Cockburn, J., Curtis, H. J., Morton, C. E., Bacon, S., Davy, S., Wong, A. Y., … Eggo, R. M. (2021). Case fatality risk of the SARS-CoV-2 variant of concern B.1.1.7 in England. MedRxiv, 2021.03.04.21252528. https://doi.org/10.1101/2021.03.04.21252528

      is:preprint lang:en COVID-19 variant B117 mortality rates UK Kent pandemic planning spread comorbidities age region week ethnicity
    Visit annotations in context

    Tags

    Annotators

    URL

    medrxiv.org/cgi/content/10.1101/2021.03.04.21252528
  12. twitter.com twitter.com
    ReconfigBehSci on Twitter
    1
    1. NatasjaDerbyMcCabe 02 Mar 2021

      ReconfigBehSci on Twitter: ‘RT @AdamJKucharski: Summary of NERVTAG view on new SARS-CoV-2 variant, from 18 Dec (full document here: Https://t.co/yll9beVI9A) https://t.…’ / Twitter. (n.d.). Retrieved 2 March 2021, from https://twitter.com/SciBeh/status/1341034652082036739

      is:tweet lang:en COVID-19 variant genomic data growth rate transmissibility cases distribution mutations antigen gylcoprotein UK London South East East reinfection readmission case fatality age distribution neutralize post-immunization lateral flow
    Visit annotations in context

    Tags

    Annotators

    URL

    twitter.com/SciBeh/status/1341034652082036739
  13. www.youtube.com www.youtube.com
    #COVID19 LIVE Q&A virus variants with Dr M. Ryan and Dr M. Van Kerkhove - #AskWHO of 27 January 2021
    1
    1. forbriger 01 Mar 2021

      World Health Organization (WHO). (2021, January 27). #COVID19​ LIVE Q&A virus variants with Dr M. Ryan and Dr M. Van Kerkhove - #AskWHO​ of 27 January 2021. https://www.youtube.com/watch?v=4SxRq45yVFY

      is:youtube lang:en COVID-19 video discussion variant WHO
    Visit annotations in context

    Tags

    Annotators

    URL

    youtube.com/watch
  14. theo.io theo.io
    New-variant compatibility in the ONS infection survey | Theo Sanderson
    1
    1. zoe_ikeotuonye 01 Mar 2021

      Sanderson, T. (2021, January 22). New-variant compatibility in the ONS infection survey. Theo Sanderson. /post/2021-01-22-ons-data/

      lang:en is:webpage variant infection survey case COVID-19 pandemic
    Visit annotations in context

    Tags

    Annotators

    URL

    theo.io/post/2021-01-22-ons-data/
  15. Feb 2021
  16. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    41
    1. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.844C>T p.(Arg282Trp)

      CGType:Variant Variant:46 ClinVarID:12364 CAID:CA000454
    2. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.736A>G p.(Met246Val)

      CGType:Variant Variant:37 ClinVarID:100815 CAID:CA000374
    3. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.638G>A p.(Arg213Gln)

      CGType:Variant Variant:30 ClinVarID:135359 CAID:CA000302
    4. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.535C>T p.(His179Tyr)

      CGType:Variant Variant:24 ClinVarID:127815 CAID:CA000256
    5. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM000546.5:c.(?-202)(29+1-28+1)del p.?

      Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.

      CGType:Variant Variant:3
    6. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 69, 73

      AssayResultAssertion: Normal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.

      CGType:FunctionalAssayResult FuncAssay:4 Variant:4 CAID:CA000049 ClinVarID:35555
    7. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:1 CAID:CA1139768486
    8. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:42 CAID:CA645588451
    9. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 80, 99

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:17 CAID:CA10584593 ClinVarID:246343
    10. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).

      CGType:FunctionalAssayResult FuncAssay:4 Variant:12 CAID:CA1139768485
    11. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 101, 106

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:7 CAID:CA397832246 ClinVarID:481148
    12. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 89, 90

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:6 CAID:CA397832401
    13. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:48 CAID:CA000457 ClinVarID:127824
    14. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:48 CAID:CA000457 ClinVarID:127824
    15. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:45 CAID:CA16603061 ClinVarID:376644
    16. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 90

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:26 CAID:CA000272 ClinVarID:127816
    17. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:20 CAID:CA000225 ClinVarID:127812
    18. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:18 CAID:CA397842793
    19. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:15 CAID:CA000123 ClinVarID:127808
    20. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:10 CAID:CA000102 ClinVarID:141114
    21. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:8 CAID:CA000071 ClinVarID:185120
    22. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 118

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:35 CAID:CA000343 ClinVarID:127821 ValidationControl:Benign
    23. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 62

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
    24. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 56, 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
    25. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 61

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
    26. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 101

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    27. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    28. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    29. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 81

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
    30. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    31. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.761T>C p.(Ile254Thr)

      CGType:Variant Variant:40 CAID:CA397837761
    32. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
    33. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.

      CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451
    34. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.5, 5.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.

      CGType:FunctionalAssayResult FuncAssay:3 Variant:4 CAID:CA000049 ClinVarID:35555
    35. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 20.5

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:1 CAID:CA1139768486
    36. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:42 CAID:CA645588451
    37. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.6, 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:17 CAID:CA10584593 ClinVarID:246343
    38. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).

      CGType:FunctionalAssayResult FuncAssay:3 Variant:12 CAID:CA1139768485
    39. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4, 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:7 CAID:CA397832246 ClinVarID:481148
    40. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8, 6.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:6 CAID:CA397832401
    41. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.3

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
    Visit annotations in context

    Tags

    Annotators

    URL

    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059