724 Matching Annotations
  1. Mar 2021
  2. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    124
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. 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
    16. 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
    17. 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
    18. 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
    19. 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
    20. 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
    21. 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
    22. 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
    23. 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
    24. 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
    25. 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
    26. 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
    27. 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
    28. 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
    29. 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
    30. 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
    31. 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
    32. 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
    33. 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
    34. 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
    35. 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
    36. 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
    37. 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
    38. 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
    39. 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
    40. 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
    41. 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
    42. 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
    43. 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
    44. 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
    45. 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
    46. 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
    47. 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
    48. 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
    49. 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
    50. 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
    51. 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
    52. 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
    53. 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
    54. 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
    55. 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
    56. 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
    57. 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
    58. 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
    59. 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
    60. 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
    61. 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
    62. 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
    63. 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
    64. 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
    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.4035G>T p.(Trp1345Cys)

      CGType:Variant CG:BulkAnnotation Variant:45 ClinVarID:67852 CAID:CA017796
    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.3841G>T p.(Val1281Phe)

      CGType:Variant CG:BulkAnnotation Variant:43 ClinVarID:67830 CAID:CA017557
    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.3784G>A p.(Gly1262Ser)

      CGType:Variant CG:BulkAnnotation Variant:41 ClinVarID:9399 CAID:CA017513
    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.3727G>A p.(Asp1243Asn)

      CGType:Variant CG:BulkAnnotation Variant:39 ClinVarID:67820 CAID:CA017472
    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.3673G>A p.(Glu1225Lys)

      CGType:Variant CG:BulkAnnotation Variant:38 ClinVarID:67810 CAID:CA017399
    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.3040C>T p.(Pro1014Ser)

      CGType:Variant CG:BulkAnnotation Variant:35 CAID:CA352139743
    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.2783T>C p.(Leu928Pro)

      CGType:Variant CG:BulkAnnotation Variant:33 ClinVarID:67757 CAID:CA016490
    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.2780A>G p.(Asn927Ser)

      CGType:Variant CG:BulkAnnotation Variant:32 ClinVarID:67756 CAID:CA016482
    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.2701G>A p.(Glu901Lys)

      CGType:Variant CG:BulkAnnotation Variant:30 ClinVarID:67752 CAID:CA016428
    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.2674T>A p.(Phe892Ile)

      CGType:Variant CG:BulkAnnotation Variant:28 ClinVarID:67747 CAID:CA016384
    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.2635T>C p.(Trp879Arg)

      CGType:Variant CG:BulkAnnotation Variant:27 CAID:CA352141945
    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.2553C>A p.(Phe851Leu)

      CGType:Variant CG:BulkAnnotation Variant:26 ClinVarID:67742 CAID:CA016274
    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.2516T>C p.(Leu839Pro)

      CGType:Variant CG:BulkAnnotation Variant:25 ClinVarID:67737 CAID:CA016228
    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.2441G>A p.(Arg814Gln)

      CGType:Variant CG:BulkAnnotation Variant:22 ClinVarID:67732 CAID:CA016182
    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.2422C>T p.(Arg808Cys)

      CGType:Variant CG:BulkAnnotation Variant:21 ClinVarID:628262 CAID:CA060381
    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.2353G>A p.(Asp785Asn)

      CGType:Variant CG:BulkAnnotation Variant:20 CAID:CA352143353
    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.2317C>T p.(Pro773Ser)

      CGType:Variant CG:BulkAnnotation Variant:19 ClinVarID:67727 CAID:CA016076
    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.2314G>A p.(Asp772Asn)

      CGType:Variant CG:BulkAnnotation Variant:18 ClinVarID:48294 CAID:CA016059
    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.2291T>A p.(Met764Lys)

      CGType:Variant CG:BulkAnnotation Variant:17 CAID:CA352143498
    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.2236G>A p.(Glu746Lys)

      CGType:Variant CG:BulkAnnotation Variant:15 ClinVarID:67721 CAID:CA015974
    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.2203G>A p.(Ala735Thr)

      CGType:Variant CG:BulkAnnotation Variant:13 ClinVarID:67719 CAID:CA015925
    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.2204C>A p.(Ala735Glu)

      CGType:Variant CG:BulkAnnotation Variant:14 ClinVarID:67720 CAID:CA015938
    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.2200A>G p.(Met734Val)

      CGType:Variant CG:BulkAnnotation Variant:12 CAID:CA352144555
    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.1186G>C p.(Val396Leu)

      CGType:Variant CG:BulkAnnotation Variant:9 ClinVarID:67642 CAID:CA014455
    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.1156G>A p.(Gly386Arg)

      CGType:Variant CG:BulkAnnotation Variant:8 ClinVarID:67640 CAID:CA014429
    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.1106T>A p.(Met369Lys)

      CGType:Variant CG:BulkAnnotation Variant:7 ClinVarID:67635 CAID:CA014336
    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.1100G>T p.(Arg367Leu)

      CGType:Variant CG:BulkAnnotation Variant:6 ClinVarID:67634 CAID:CA014324
    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.1099C>T p.(Arg367Cys)

      CGType:Variant CG:BulkAnnotation Variant:5 ClinVarID:67633 CAID:CA014305
    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.1045G>A p.(Asp349Asn)

      CGType:Variant CG:BulkAnnotation Variant:3 ClinVarID:229230 CAID:CA057036
    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.1038G>T p.(Glu346Asp)

      CGType:Variant CG:BulkAnnotation Variant:2 CAID:CA352149766
    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.1003T>C p.(Cys335Arg)

      CGType:Variant CG:BulkAnnotation Variant:1 CAID:CA352149916
    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.844C>T p.(Arg282Cys)

      CGType:Variant CG:BulkAnnotation Variant:81 ClinVarID:68047 CAID:CA019844
    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.827T>A p.(Leu276Gln)

      CGType:Variant CG:BulkAnnotation Variant:80 ClinVarID:68045 CAID:CA019833
    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.667G>C p.(Val223Leu)

      CGType:Variant CG:BulkAnnotation Variant:79 ClinVarID:68031 CAID:CA019709
    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.533C>G p.(Ala178Gly)

      CGType:Variant CG:BulkAnnotation Variant:74 ClinVarID:67986 CAID:CA019140
    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.525G>C p.(Lys175Asn)

      CGType:Variant CG:BulkAnnotation Variant:73 ClinVarID:67971 CAID:CA019045
    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.407T>C p.(Leu136Pro)

      CGType:Variant CG:BulkAnnotation Variant:48 ClinVarID:67861 CAID:CA017871
    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.327C>A p.(Asn109Lys)

      CGType:Variant CG:BulkAnnotation Variant:36 ClinVarID:67787 CAID:CA016995
    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.278T>C p.(Phe93Ser)

      CGType:Variant CG:BulkAnnotation Variant:34 ClinVarID:67758 CAID:CA016523
    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.250G>A p.(Asp84Asn)

      CGType:Variant CG:BulkAnnotation Variant:24 ClinVarID:67736 CAID:CA016221
    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.5237C>T p.(Ala1746Val)

      CGType:Variant CG:BulkAnnotation Variant:72 ClinVarID:463345 CAID:CA064275
    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.4109A>G p.(Asp1370Gly)

      CGType:Variant CG:BulkAnnotation Variant:49 ClinVarID:201506 CAID:CA017888
    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.3835G>A p.(Val1279Ile)

      CGType:Variant CG:BulkAnnotation Variant:42 ClinVarID:67829 CAID:CA017547
    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.3751G>A p.(Val1251Met)

      CGType:Variant CG:BulkAnnotation Variant:40 ClinVarID:67824 CAID:CA017494
    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.2770G>A p.(Val924Ile)

      CGType:Variant CG:BulkAnnotation Variant:31 ClinVarID:48295 CAID:CA016475
    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.2497G>A p.(Gly833Arg)

      CGType:Variant CG:BulkAnnotation Variant:23 ClinVarID:67734 CAID:CA016206
    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.2141T>C p.(Val714Ala)

      CGType:Variant CG:BulkAnnotation Variant:11 ClinVarID:242192 CAID:CA059817
    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.895T>A p.(Leu299Met)

      CGType:Variant CG:BulkAnnotation Variant:83 ClinVarID:68055 CAID:CA019926
    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.856G>T p.(Ala286Ser)

      CGType:Variant CG:BulkAnnotation Variant:82 ClinVarID:68049 CAID:CA019856
    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.496G>A p.(Ala166Thr)

      CGType:Variant CG:BulkAnnotation Variant:65 CAID:CA064027
    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.5350G>A p.(Glu1784Lys)

      CGType:Variant CG:BulkAnnotation Variant:75 ClinVarID:9377 CAID:CA019148
    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.4895G>A p.(Arg1632His)

      CGType:Variant CG:BulkAnnotation Variant:63 ClinVarID:67939 CAID:CA018735
    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.4294A>G p.(Arg1432Gly)

      CGType:Variant CG:BulkAnnotation Variant:58 ClinVarID:67877 CAID:CA018087
    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.3974A>G p.(Asn1325Ser)

      CGType:Variant CG:BulkAnnotation Variant:44 ClinVarID:9370 CAID:CA017679
    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.2254G>A p.(Gly752Arg)

      CGType:Variant CG:BulkAnnotation Variant:16 ClinVarID:67723 CAID:CA016002
    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.1859G>A p.(Arg620His)

      CGType:Variant CG:BulkAnnotation Variant:10 CAID:CA058963
    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.1058C>T p.(Thr353Ile)

      CGType:Variant CG:BulkAnnotation Variant:4 ClinVarID:67631 CAID:CA014257
    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.659C>T p.(Thr220Ile)

      CGType:Variant CG:BulkAnnotation Variant:78 ClinVarID:9396 CAID:CA019690
    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.361C>T p.(Arg121Trp)

      CGType:Variant CG:BulkAnnotation Variant:37 ClinVarID:67807 CAID:CA017341
    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.26G>T p.(Gly9Val)

      CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:67751 CAID:CA016420
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