Hypothesis

1,591 Matching Annotations

Mar 2021
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High-Throughput Reclassification of SCN5A Variants

159
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 19
  
  StandardErrorMean: 1.5
  
  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:66 CAID:CA018812 ClinVarID:201523
2. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 14.8
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 27
  
  StandardErrorMean: 2.5
  
  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:64 CAID:CA018747 ClinVarID:67940
3. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 78.9
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 38
  
  StandardErrorMean: 7.2
  
  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:62 CAID:CA018516 ClinVarID:67920
4. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 43.3
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 14
  
  StandardErrorMean: 12.2
  
  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:61 CAID:CA018503 ClinVarID:67918
5. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 59.7
  
  AssayResultAssertion: Indeterminate
  
  ReplicateCount: 41
  
  StandardErrorMean: 6.3
  
  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:60 CAID:CA352145324
6. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 10.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 12
  
  StandardErrorMean: 3.4
  
  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:59 CAID:CA018163 ClinVarID:67884
7. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0.3
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 24
  
  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:57 CAID:CA018079 ClinVarID:67876
8. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 11
  
  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:56 CAID:CA018048 ClinVarID:67874
9. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 3
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 16
  
  StandardErrorMean: 1.5
  
  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:55 CAID:CA018042 ClinVarID:67873
10. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 32.6
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 10
  
  StandardErrorMean: 6.2
  
  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:54 CAID:CA017969 ClinVarID:67869
11. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 36
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 14
  
  StandardErrorMean: 6
  
  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:52 CAID:CA017946 ClinVarID:67866
12. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 13.9
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 15
  
  StandardErrorMean: 2.8
  
  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:53 CAID:CA017955 ClinVarID:67867
13. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
14. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
15. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
16. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
17. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
18. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
19. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
20. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
21. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
22. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
23. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
24. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
25. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
26. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
27. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
28. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
29. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
30. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
31. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
32. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
33. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
34. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
35. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
36. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
37. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
38. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
39. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
40. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
41. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
42. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
43. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
44. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
45. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
46. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
47. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
48. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
49. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
50. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
51. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
52. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
53. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
54. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
55. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
56. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
57. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
58. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
59. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
60. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
61. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
62. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
63. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
64. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
65. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
66. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
67. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
68. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
69. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
70. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
71. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
72. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
73. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
74. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
75. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
76. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
77. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
78. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
79. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
80. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
81. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
82. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
83. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
84. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
85. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
86. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
87. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
88. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
89. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
90. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
91. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
92. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
93. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
94. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
95. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
96. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
97. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
98. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
99. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
100. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
101. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
102. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
103. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
104. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
105. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
106. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
107. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
108. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
109. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
110. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
111. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
112. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
113. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
114. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
115. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
116. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
117. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
118. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
119. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
120. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
121. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
122. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
123. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
124. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
125. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
126. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
127. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
128. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
129. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
130. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
131. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
132. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
133. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
134. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
135. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
136. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
137. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
138. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
139. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
140. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
141. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
142. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
143. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
144. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
145. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
146. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
147. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
148. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
149. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
150. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
151. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
152. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
153. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
154. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
155. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
156. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
157. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
158. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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
159. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  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

Variant:68

Variant:5

Variant:11

CAID:CA016206

CAID:CA352142022

Variant:14

Variant:48

Variant:33

Variant:21

ValidationControl:Benign

CAID:CA064645

ClinVarID:48294

Variant:73

Variant:58

ClinVarID:67864

Variant:29

CAID:CA064275

Variant:82

CAID:CA352149766

Variant:72

ClinVarID:67873

Variant:20

CAID:CA017494

CAID:CA017796

Variant:50

ClinVarID:68031

ClinVarID:68055

Variant:47

Variant:6

Variant:18

CAID:CA018079

Variant:79

CAID:CA017399

Variant:30

Variant:63

Variant:54

CAID:CA018042

CAID:CA018516

Variant:16

ClinVarID:229230

CAID:CA017472

CAID:CA017955

CAID:CA060381

CAID:CA019690

Variant:83

ClinVarID:242192

Variant:4

Variant:3

Variant:23

ClinVarID:9370

ClinVarID:67884

CAID:CA352141945

ClinVarID:67720

Variant:70

ClinVarID:67920

CAID:CA014455

Variant:31

Variant:9

ClinVarID:67807

CAID:CA352143353

CAID:CA014429

CAID:CA019856

CAID:CA018943

CAID:CA018863

ClinVarID:67951

Variant:39

CAID:CA016523

ClinVarID:67869

ClinVarID:68047

Variant:55

ClinVarID:67727

CAID:CA016384

Variant:2

CAID:CA018747

ClinVarID:67824

CAID:CA016274

CAID:CA016482

ClinVarID:67635

CAID:CA018848

Variant:40

Variant:64

Variant:62

ClinVarID:67631

CAID:CA017547

CAID:CA017557

CAID:CA018048

Variant:80

ClinVarID:67986

Variant:25

Variant:27

Variant:19

CAID:CA019140

ClinVarID:628262

Variant:59

Variant:46

ClinVarID:67734

ClinVarID:67939

ClinVarID:67721

Variant:7

CAID:CA014324

ClinVarID:67877

CAID:CA018087

Variant:77

CAID:CA014305

CAID:CA016182

CAID:CA018812

ClinVarID:67960

CAID:CA017888

Variant:36

CAID:CA019516

Variant:22

CAID:CA019844

ClinVarID:67640

Variant:41

FuncAssay:1

Variant:60

CAID:CA016228

CAID:CA352144555

ClinVarID:67633

CAID:CA016995

CAID:CA016428

ClinVarID:67736

ClinVarID:9377

Variant:44

CAID:CA019926

Variant:35

ClinVarID:67732

ClinVarID:67719

CAID:CA017679

ClinVarID:67723

ClinVarID:67758

Variant:45

CAID:CA015925

CAID:CA059817

CAID:CA015938

ClinVarID:68049

ClinVarID:67866

Variant:34

CAID:CA019148

Variant:67

Variant:17

CAID:CA017913

Variant:81

Variant:71

Variant:69

CAID:CA016420

Variant:66

CAID:CA016221

ClinVarID:67867

ClinVarID:67751

CAID:CA017837

Variant:43

ClinVarID:67737

ClinVarID:67918

CAID:CA018163

ClinVarID:67820

CAID:CA057036

Variant:74

CAID:CA018735

CAID:CA016002

CAID:CA018904

ClinVarID:67952

Variant:38

CAID:CA058963

CAID:CA017341

Variant:24

CAID:CA016490

ClinVarID:67830

CAID:CA015974

ClinVarID:67971

CAID:CA352143498

CAID:CA018503

Variant:13

Variant:61

ClinVarID:67634

Variant:53

Variant:78

CAID:CA016059

ClinVarID:67852

Variant:52

CAID:CA019833

ClinVarID:67756

Variant:1

ClinVarID:67742

ClinVarID:518750

ClinVarID:67876

ClinVarID:9396

Variant:28

Variant:32

ClinVarID:67861

ClinVarID:67857

Variant:76

ClinVarID:463345

CAID:CA019045

CGType:FunctionalAssayResult

ClinVarID:9399

CAID:CA014257

CAID:CA017969

ClinVarID:67752

CAID:CA019709

Variant:49

CAID:CA016076

CG:BulkAnnotation

Variant:42

ClinVarID:67787

CGType:Variant

ClinVarID:67940

ClinVarID:201523

ClinVarID:67854

Variant:15

CAID:CA017871

ClinVarID:67874

CAID:CA017808

ClinVarID:67757

Variant:10

Variant:8

ClinVarID:68045

CAID:CA016475

ClinVarID:67747

CAID:CA064027

Variant:26

ClinVarID:67957

ClinVarID:201546

CAID:CA352146767

Variant:75

CAID:CA017946

CAID:CA352139743

Variant:65

Variant:12

ClinVarID:67642

CAID:CA014336

ClinVarID:201506

ClinVarID:48295

ClinVarID:67810

Variant:51

Variant:57

CAID:CA352149916

ClinVarID:67829

Variant:37

Variant:56

CAID:CA017513

CAID:CA352145324

Annotators

shannon_mcnulty

URL

cell.com/ajhg/fulltext/S0002-9297(20)30162-2
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
  
  in BehSci
  
  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
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sophia.sterckx

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theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur
www.bloomberg.com www.bloomberg.com

Moderna Plans Multi-Pronged Approach on Virus Variants

1
1. zoe_ikeotuonye 15 Mar 2021
  
  in BehSci
  
  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
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bloomberg.com/news/articles/2021-02-24/moderna-plans-multi-pronged-approach-to-tackling-virus-variants
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
  
  in BehSci
  
  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
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newscientist.com/article/2263077-what-you-need-to-know-about-the-new-variant-of-coronavirus-in-the-uk/
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
  
  in BehSci
  
  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.
  
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nytimes.com/2021/01/18/us/as-the-us-surpasses-24-million-cases-los-angeles-confronts-a-more-contagious-variant.html
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
  
  in BehSci
  
  ‘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.
  
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sciencemag.org/news/2020/12/mutant-coronavirus-united-kingdom-sets-alarms-its-importance-remains-unclear
www.reuters.com www.reuters.com

Exclusive: Oxford study indicates AstraZeneca effective against Brazil variant, source says

1
1. sophia.sterckx 15 Mar 2021
  
  in BehSci
  
  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
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reuters.com/article/us-health-coronavirus-brazil-variant-exc-idUSKBN2AX1NS
www.gov.uk www.gov.uk

Investigation of novel SARS-CoV-2 variant: Variant of Concern 202012/01

1
1. emilybiggs 15 Mar 2021
  
  in BehSci
  
  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
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gov.uk/government/publications/investigation-of-novel-sars-cov-2-variant-variant-of-concern-20201201
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
  
  in Public
  
  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)
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github.com/rails/sprockets/issues/688
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
  
  in BehSci
  
  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
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NatasjaDerbyMcCabe

URL

medrxiv.org/cgi/content/10.1101/2021.03.04.21252528
twitter.com twitter.com

ReconfigBehSci on Twitter

1
1. NatasjaDerbyMcCabe 02 Mar 2021
  
  in BehSci
  
  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
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twitter.com/SciBeh/status/1341034652082036739
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
  
  in BehSci
  
  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
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theo.io theo.io

New-variant compatibility in the ONS infection survey | Theo Sanderson

1
1. zoe_ikeotuonye 01 Mar 2021
  
  in BehSci
  
  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
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theo.io/post/2021-01-22-ons-data/
Feb 2021
jmg.bmj.com jmg.bmj.com

Blood functional assay for rapid clinical interpretation of germline TP53 variants

29
1. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  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
  
  in Public
  
  Supplemental material
  
  AssayResult: 81
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
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FuncAssay:4

Variant:5

ClinVarID:127824

Variant:48

ValidationControl:Benign

CAID:CA000343

Variant:45

ClinVarID:481148

Variant:17

CAID:CA645588451

Variant:20

ClinVarID:135359

CAID:CA000225

Variant:6

Variant:18

ClinVarID:127812

ClinVarID:100815

CAID:CA000454

ClinVarID:376644

Variant:30

CAID:CA000049

CAID:CA000071

Variant:16

Variant:24

CAID:CA000457

ClinVarID:141114

Variant:4

CAID:CA1139768486

CAID:CA16603061

Variant:3

CAID:CA000102

ClinVarID:12379

ClinVarID:127815

Variant:1

CAID:CA000374

CAID:CA000259

ClinVarID:127808

CGType:FunctionalAssayResult

CAID:CA000272

ClinVarID:246343

CAID:CA1139768485

Variant:42

CGType:Variant

ClinVarID:127821

Variant:15

ClinVarID:12364

CAID:CA497717451

ClinVarID:185120

CAID:CA397842793

CAID:CA000013

ValidationControl:Pathogenic

CAID:CA10584593

Variant:25

Variant:10

Variant:8

Variant:46

Variant:26

Variant:7

ClinVarID:142320

CAID:CA397832401

CAID:CA1139768484

Variant:36

Variant:12

CAID:CA000144

CAID:CA397832246

Variant:41

CAID:CA000256

Variant:37

ClinVarID:35555

ClinVarID:177825

CAID:CA000302

ClinVarID:127816

Variant:35

CAID:CA000123

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

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