Hypothesis

724 Matching Annotations

Mar 2021
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

157
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 120.54
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 11.09
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:11 CAID:CA163908 ClinVarID:126607
2. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 74.18
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 6.49
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:10 CAID:CA185966 ClinVarID:182790 ValidationControl:Benign
3. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 95.74
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 14.87
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:9 CAID:CA269492 ClinVarID:126600
4. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 83.96
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 9.89
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:8 CAID:CA288398 ClinVarID:126595
5. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 94.84
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 20.56
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:7 CAID:CA395139401
6. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 17.43
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardErrorMean: 5.19
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
7. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 108.51
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 17.71
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:5 CAID:CA151222 ClinVarID:126594
8. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 67.82
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 10.97
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:4 CAID:CA288386 ClinVarID:126590
9. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 72.7
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 3
  
  StandardErrorMean: 9.73
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:3 CAID:CA294407 ClinVarID:142468
10. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 9.68
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardErrorMean: 3.44
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:2 CAID:CA279502031 ClinVarID:657328
11. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 115.71
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardErrorMean: 3.09
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:1 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
12. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 80.95
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 0.01
  
  StandardErrorMean: 0
  
  Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:57 CAID:CA167348 ClinVarID:142079
13. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 101.02
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 5.45
  
  StandardErrorMean: 3.86
  
  Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as T1064C.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:49 CAID:CA299747 ClinVarID:182773
14. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 84.43
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 2.77
  
  StandardErrorMean: 1.96
  
  Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as L855P (based on matching values reported in the “Supplementary Data 1” file to values reported in the “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:21 CAID:CA494163316 ValidationControl:Benign
15. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 15.58
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 6
  
  StandardDeviation: 0.52
  
  StandardErrorMean: 0.37
  
  ControlType: Abnormal; empty vector (set 5)
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
16. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.93
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 6
  
  StandardDeviation: 0.56
  
  StandardErrorMean: 0.39
  
  ControlType: Abnormal; empty vector (set 4)
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
17. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 8.71
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 6
  
  StandardDeviation: 1.75
  
  StandardErrorMean: 1.24
  
  ControlType: Abnormal; empty vector (set 3)
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
18. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.11
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 6
  
  StandardDeviation: 2.37
  
  StandardErrorMean: 1.68
  
  ControlType: Abnormal; empty vector (set 2)
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
19. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.83
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 6
  
  StandardDeviation: 1.13
  
  StandardErrorMean: 0.8
  
  ControlType: Abnormal; empty vector (set 1)
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
20. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 100
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 38
  
  StandardDeviation: 0
  
  StandardErrorMean: 0
  
  ControlType: Normal; wild type PALB2 cDNA
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 ValidationControl:WildType AssayControl:Normal
21. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 97.16
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 1.32
  
  StandardErrorMean: 0.93
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:70 CAID:CA395139673 ClinVarID:567901
22. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 30.35
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 3.64
  
  StandardErrorMean: 2.57
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:69 CAID:CA269654 ClinVarID:126774
23. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 20.32
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.49
  
  StandardErrorMean: 0.35
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:68 CAID:CA10580054 ClinVarID:230588
24. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.42
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.87
  
  StandardErrorMean: 2.03
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:67 CAID:CA299784 ClinVarID:182786 ValidationControl:Pathogenic
25. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 91.47
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 8.63
  
  StandardErrorMean: 6.1
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:66 CAID:CA161333 ClinVarID:126761 ValidationControl:Benign
26. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 100.19
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 5.64
  
  StandardErrorMean: 3.99
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA161315 ClinVarID:126758
27. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 10.53
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.79
  
  StandardErrorMean: 1.97
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:64 CAID:CA658658444 ClinVarID:461007 ValidationControl:Pathogenic
28. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 90.64
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 1.82
  
  StandardErrorMean: 1.29
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:63 CAID:CA163622 ClinVarID:126749 ValidationControl:Benign
29. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 11.37
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.36
  
  StandardErrorMean: 0.26
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
30. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 70.86
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 17.18
  
  StandardErrorMean: 12.15
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:61 CAID:CA395137656
31. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 81.81
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 7.45
  
  StandardErrorMean: 5.27
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:60 CAID:CA269625 ClinVarID:126747
32. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 90.54
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 10.24
  
  StandardErrorMean: 7.24
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:59 CAID:CA196291 ClinVarID:186939
33. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 13.45
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.2
  
  StandardErrorMean: 1.55
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:58 CAID:CA395137855 ClinVarID:484186
34. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 92.2
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 19.94
  
  StandardErrorMean: 14.1
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:56 CAID:CA395137985
35. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 90.79
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 6.38
  
  StandardErrorMean: 4.51
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:55 CAID:CA279524947 ClinVarID:460996
36. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 69.83
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 5.94
  
  StandardErrorMean: 4.2
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:54 CAID:CA288478 ClinVarID:126740
37. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 75.85
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 4.78
  
  StandardErrorMean: 3.38
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:53 CAID:CA192169 ClinVarID:185518
38. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 94.33
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 9.99
  
  StandardErrorMean: 7.07
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:52 CAID:CA331796 ClinVarID:126738
39. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 102.58
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 2.19
  
  StandardErrorMean: 1.55
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:51 CAID:CA350039 ClinVarID:219647
40. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 21.79
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.84
  
  StandardErrorMean: 1.3
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:50 CAID:CA339433 ClinVarID:216752
41. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 95.86
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 1.62
  
  StandardErrorMean: 1.15
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:48 CAID:CA395141224
42. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 91.21
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 7.32
  
  StandardErrorMean: 5.18
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:47 CAID:CA395141313
43. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 10.59
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.6
  
  StandardErrorMean: 0.43
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:46 CAID:CA279530867 ClinVarID:922719
44. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 76.97
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 3.1
  
  StandardErrorMean: 2.19
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:45 CAID:CA395141474
45. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.92
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.32
  
  StandardErrorMean: 0.94
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:44 CAID:CA251004 ClinVarID:126711 ValidationControl:Pathogenic
46. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 38.85
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 3.05
  
  StandardErrorMean: 2.15
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:43 CAID:CA395142764 ClinVarID:484219
47. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 16.89
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 3.12
  
  StandardErrorMean: 2.21
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA10579934 ClinVarID:232977
48. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 17.62
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.76
  
  StandardErrorMean: 1.25
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:41 CAID:CA923726356
49. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 86.41
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 17.62
  
  StandardErrorMean: 12.46
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA16620118 ClinVarID:420826
50. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 6.16
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.27
  
  StandardErrorMean: 0.9
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:39 CAID:CA294562 ClinVarID:126706 ValidationControl:Pathogenic
51. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 95.16
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 3
  
  StandardDeviation: 16.94
  
  StandardErrorMean: 9.78
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:38 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
52. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.08
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.54
  
  StandardErrorMean: 0.38
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
53. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 14.01
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.53
  
  StandardErrorMean: 0.38
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:36 CAID:CA395144208
54. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 74.49
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 2.29
  
  StandardErrorMean: 1.62
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:35 CAID:CA210470 ClinVarID:128136
55. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 6.53
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.29
  
  StandardErrorMean: 0.21
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:34 CAID:CA195974 ClinVarID:186824
56. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 30.27
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.04
  
  StandardErrorMean: 0.74
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:33 CAID:CA7963465 ClinVarID:241553
57. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.63
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.51
  
  StandardErrorMean: 0.36
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:32 CAID:CA197176 ClinVarID:187262
58. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 63.4
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 5.92
  
  StandardErrorMean: 4.18
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:31 CAID:CA395144862
59. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 60.28
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 3
  
  StandardDeviation: 0.14
  
  StandardErrorMean: 0.1
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:30 CAID:CA151239 ClinVarID:126683
60. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 17.35
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 6.21
  
  StandardErrorMean: 4.39
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:29 CAID:CA395144928 ClinVarID:484164
61. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 106.23
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 14.57
  
  StandardErrorMean: 10.3
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:28 CAID:CA196017 ClinVarID:186840
62. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 75.71
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 22.31
  
  StandardErrorMean: 15.77
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:27 CAID:CA395145110
63. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 6.66
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 0.28
  
  StandardErrorMean: 0.2
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:26 CAID:CA395121845
64. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 6.1
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.11
  
  StandardErrorMean: 1.49
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:25 CAID:CA299663 ClinVarID:182741 ValidationControl:Pathogenic
65. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 84.07
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 2.47
  
  StandardErrorMean: 1.75
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:24 CAID:CA269551 ClinVarID:126670
66. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 100.07
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 6.18
  
  StandardErrorMean: 4.37
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA395122261
67. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 91.6
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 8.2
  
  StandardErrorMean: 5.8
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:22 CAID:CA151233 ClinVarID:126669 ValidationControl:Benign
68. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 82.83
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 4.82
  
  StandardErrorMean: 3.41
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:20 CAID:CA395125757 ClinVarID:530038
69. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 87.35
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 11.94
  
  StandardErrorMean: 8.44
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:19 CAID:CA10579985 ClinVarID:229718
70. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 83.25
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 5.27
  
  StandardErrorMean: 3.73
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:18 CAID:CA151230 ClinVarID:126630 ValidationControl:Benign
71. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.03
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.68
  
  StandardErrorMean: 1.9
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:17 CAID:CA161342 ClinVarID:134994 ValidationControl:Pathogenic
72. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 77.45
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 6.2
  
  StandardErrorMean: 4.38
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:16 CAID:CA7963653
73. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 9.92
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.93
  
  StandardErrorMean: 1.37
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA151229 ClinVarID:126623 ValidationControl:Pathogenic
74. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 95.02
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 0.08
  
  StandardErrorMean: 0.06
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:14 CAID:CA161327 ClinVarID:126613 ValidationControl:Benign
75. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 10.4
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 3.22
  
  StandardErrorMean: 2.28
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
76. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.75
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.59
  
  StandardErrorMean: 1.83
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:12 CAID:CA250432 ClinVarID:126609 ValidationControl:Pathogenic
77. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 75.45
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 4.03
  
  StandardErrorMean: 2.85
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA163908 ClinVarID:126607
78. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 98.55
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 5.74
  
  StandardErrorMean: 4.06
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:10 CAID:CA185966 ClinVarID:182790 ValidationControl:Benign
79. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 62.31
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 11.49
  
  StandardErrorMean: 8.13
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:9 CAID:CA269492 ClinVarID:126600
80. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 66.19
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 21.26
  
  StandardErrorMean: 15.03
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:8 CAID:CA288398 ClinVarID:126595
81. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 105.41
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 9.45
  
  StandardErrorMean: 6.68
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:7 CAID:CA395139401
82. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 7.82
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 2.31
  
  StandardErrorMean: 1.64
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
83. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 92.32
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 2.26
  
  StandardErrorMean: 1.6
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:5 CAID:CA151222 ClinVarID:126594
84. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 44.9
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 9.75
  
  StandardErrorMean: 6.89
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:4 CAID:CA288386 ClinVarID:126590
85. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 97.61
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 0.97
  
  StandardErrorMean: 0.68
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:3 CAID:CA294407 ClinVarID:142468
86. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 11.28
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 2
  
  StandardDeviation: 1.24
  
  StandardErrorMean: 0.87
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA279502031 ClinVarID:657328
87. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Source Data
  
  AssayResult: 86.67
  
  AssayResultAssertion: Not reported
  
  ReplicateCount: 2
  
  StandardDeviation: 2.24
  
  StandardErrorMean: 1.58
  
  Comment: Exact values reported in “Source Data” file.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:1 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
88. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3492G>T p.(W1164C)
  
  CGType:Variant CG:BulkAnnotation Variant:57 ClinVarID:142079 CAID:CA167348
89. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3191A>G p.(Y1064C)
  
  CGType:Variant CG:BulkAnnotation Variant:49 ClinVarID:182773 CAID:CA299747
90. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2574T>C p.(V858=)
  
  CGType:Variant CG:BulkAnnotation Variant:21 CAID:CA494163316
91. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.92C>T p.(T31I)
  
  CGType:Variant CG:BulkAnnotation Variant:70 ClinVarID:567901 CAID:CA395139673
92. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.83A>G p.(Y28C)
  
  CGType:Variant CG:BulkAnnotation Variant:69 ClinVarID:126774 CAID:CA269654
93. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.71T>C p.(L24S)
  
  CGType:Variant CG:BulkAnnotation Variant:68 ClinVarID:230588 CAID:CA10580054
94. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.688G>T p.(E230X)
  
  CGType:Variant CG:BulkAnnotation Variant:67 ClinVarID:182786 CAID:CA299784
95. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.629C>T p.(P210L)
  
  CGType:Variant CG:BulkAnnotation Variant:66 ClinVarID:126761 CAID:CA161333
96. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.53A>G p.(K18R)
  
  CGType:Variant CG:BulkAnnotation Variant:65 ClinVarID:126758 CAID:CA161315
97. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.514_517delTCTG p.(S172fs)
  
  CGType:Variant CG:BulkAnnotation Variant:64 ClinVarID:461007 CAID:CA658658444
98. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.400G>A p.(D134N)
  
  CGType:Variant CG:BulkAnnotation Variant:63 ClinVarID:126749 CAID:CA163622
99. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3549C>G p.(Y1183X)
  
  CGType:Variant CG:BulkAnnotation Variant:62 ClinVarID:1245 CAID:CA151250
100. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3548A>G p.(Y1183C)
  
  CGType:Variant CG:BulkAnnotation Variant:61 CAID:CA395137656
101. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3539T>C p.(I1180T)
  
  CGType:Variant CG:BulkAnnotation Variant:60 ClinVarID:126747 CAID:CA269625
102. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3520G>A p.(G1174R)
  
  CGType:Variant CG:BulkAnnotation Variant:59 ClinVarID:186939 CAID:CA196291
103. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3515T>C p.(L1172P)
  
  CGType:Variant CG:BulkAnnotation Variant:58 ClinVarID:484186 CAID:CA395137855
104. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3478T>C p.(S1160P)
  
  CGType:Variant CG:BulkAnnotation Variant:56 CAID:CA395137985
105. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3476G>T p.(W1159L)
  
  CGType:Variant CG:BulkAnnotation Variant:55 ClinVarID:460996 CAID:CA279524947
106. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3428T>A p.(L1143H)
  
  CGType:Variant CG:BulkAnnotation Variant:54 ClinVarID:126740 CAID:CA288478
107. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3367G>A p.(V1123M)
  
  CGType:Variant CG:BulkAnnotation Variant:53 ClinVarID:185518 CAID:CA192169
108. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3356T>C p.(L1119P)
  
  CGType:Variant CG:BulkAnnotation Variant:52 ClinVarID:126738 CAID:CA331796
109. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3331C>G p.(P1111A)
  
  CGType:Variant CG:BulkAnnotation Variant:51 ClinVarID:219647 CAID:CA350039
110. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3209T>C p.(L1070P)
  
  CGType:Variant CG:BulkAnnotation Variant:50 ClinVarID:216752 CAID:CA339433
111. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3172T>C p.(S1058P)
  
  CGType:Variant CG:BulkAnnotation Variant:48 CAID:CA395141224
112. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3152T>G p.(I1051S)
  
  CGType:Variant CG:BulkAnnotation Variant:47 CAID:CA395141313
113. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3128G>A p.(G1043D)
  
  CGType:Variant CG:BulkAnnotation Variant:46 ClinVarID:922719 CAID:CA279530867
114. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3119T>C p.(L1040S)
  
  CGType:Variant CG:BulkAnnotation Variant:45 CAID:CA395141474
115. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3113G>A p.(W1038X)
  
  CGType:Variant CG:BulkAnnotation Variant:44 ClinVarID:126711 CAID:CA251004
116. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3110T>C p.(I1037T)
  
  CGType:Variant CG:BulkAnnotation Variant:43 ClinVarID:484219 CAID:CA395142764
117. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3089C>T p.(T1030I)
  
  CGType:Variant CG:BulkAnnotation Variant:42 ClinVarID:232977 CAID:CA10579934
118. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3073_3074delinsCG p.(A1025R)
  
  CGType:Variant CG:BulkAnnotation Variant:41 CAID:CA923726356
119. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3054G>T p.(E1018D)
  
  CGType:Variant CG:BulkAnnotation Variant:40 ClinVarID:420826 CAID:CA16620118
120. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.3026delC p.(P1009Lfs)
  
  CGType:Variant CG:BulkAnnotation Variant:39 ClinVarID:126706 CAID:CA294562
121. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2993G>A p.(G998E)
  
  CGType:Variant CG:BulkAnnotation Variant:38 ClinVarID:126699 CAID:CA151242
122. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2962C>T p.(Q988X)
  
  CGType:Variant CG:BulkAnnotation Variant:37 ClinVarID:1246 CAID:CA164468
123. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2915T>A p.(L972Q)
  
  CGType:Variant CG:BulkAnnotation Variant:36 CAID:CA395144208
124. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2897T>C p.(I966T)
  
  CGType:Variant CG:BulkAnnotation Variant:35 ClinVarID:128136 CAID:CA210470
125. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2882T>C p.(L961P)
  
  CGType:Variant CG:BulkAnnotation Variant:34 ClinVarID:186824 CAID:CA195974
126. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2840T>C p.(L947S)
  
  CGType:Variant CG:BulkAnnotation Variant:33 ClinVarID:241553 CAID:CA7963465
127. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2831T>A p.(I944N)
  
  CGType:Variant CG:BulkAnnotation Variant:32 ClinVarID:187262 CAID:CA197176
128. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2819A>G p.(E940G)
  
  CGType:Variant CG:BulkAnnotation Variant:31 CAID:CA395144862
129. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2816T>G p.(L939W)
  
  CGType:Variant CG:BulkAnnotation Variant:30 ClinVarID:126683 CAID:CA151239
130. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2809G>A p.(G937R)
  
  CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:484164 CAID:CA395144928
131. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2792T>G p.(L931R)
  
  CGType:Variant CG:BulkAnnotation Variant:28 ClinVarID:186840 CAID:CA196017
132. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2780A>C p.(D927A)
  
  CGType:Variant CG:BulkAnnotation Variant:27 CAID:CA395145110
133. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2734T>G p.(W912G)
  
  CGType:Variant CG:BulkAnnotation Variant:26 CAID:CA395121845
134. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2642_2645dupGTTG p.(C882Wfs)
  
  CGType:Variant CG:BulkAnnotation Variant:25 ClinVarID:182741 CAID:CA299663
135. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2612A>G p.(D871G)
  
  CGType:Variant CG:BulkAnnotation Variant:24 ClinVarID:126670 CAID:CA269551
136. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2593T>C p.(S865P)
  
  CGType:Variant CG:BulkAnnotation Variant:23 CAID:CA395122261
137. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2590C>T p.(P864S)
  
  CGType:Variant CG:BulkAnnotation Variant:22 ClinVarID:126669 CAID:CA151233
138. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2120C>T p.(P707L)
  
  CGType:Variant CG:BulkAnnotation Variant:20 ClinVarID:530038 CAID:CA395125757
139. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2117C>T p.(T706I)
  
  CGType:Variant CG:BulkAnnotation Variant:19 ClinVarID:229718 CAID:CA10579985
140. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2014G>C p.(E672Q)
  
  CGType:Variant CG:BulkAnnotation Variant:18 ClinVarID:126630 CAID:CA151230
141. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.2006delA p.(E669Gfs)
  
  CGType:Variant CG:BulkAnnotation Variant:17 ClinVarID:134994 CAID:CA161342
142. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1865T>C p.(L622P)
  
  CGType:Variant CG:BulkAnnotation Variant:16 CAID:CA7963653
143. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.172_175delTTGT p.(Q60Rfs)
  
  CGType:Variant CG:BulkAnnotation Variant:15 ClinVarID:126623 CAID:CA151229
144. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1676A>G p.(Q559R)
  
  CGType:Variant CG:BulkAnnotation Variant:14 ClinVarID:126613 CAID:CA161327
145. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1653T>A p.(Y551X)
  
  CGType:Variant CG:BulkAnnotation Variant:13 ClinVarID:1243 CAID:CA251717
146. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1592delT p.(L531Cfs)
  
  CGType:Variant CG:BulkAnnotation Variant:12 ClinVarID:126609 CAID:CA250432
147. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1544A>G p.(K515R)
  
  CGType:Variant CG:BulkAnnotation Variant:11 ClinVarID:126607 CAID:CA163908
148. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1492G>T p.(D498Y)
  
  CGType:Variant CG:BulkAnnotation Variant:10 ClinVarID:182790 CAID:CA185966
149. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.13C>T p.(P5S)
  
  CGType:Variant CG:BulkAnnotation Variant:9 ClinVarID:126600 CAID:CA269492
150. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1250C>A p.(S417Y)
  
  CGType:Variant CG:BulkAnnotation Variant:8 ClinVarID:126595 CAID:CA288398
151. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.124G>A p.(E42K)
  
  CGType:Variant CG:BulkAnnotation Variant:7 CAID:CA395139401
152. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1227_1231delTGTTA p.(Y409X)
  
  CGType:Variant CG:BulkAnnotation Variant:6 ClinVarID:546043 CAID:CA16621924
153. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1222T>C p.(Y408H)
  
  CGType:Variant CG:BulkAnnotation Variant:5 ClinVarID:126594 CAID:CA151222
154. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.110G>A p.(R37H)
  
  CGType:Variant CG:BulkAnnotation Variant:4 ClinVarID:126590 CAID:CA288386
155. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.10C>T p.(P4S)
  
  CGType:Variant CG:BulkAnnotation Variant:3 ClinVarID:142468 CAID:CA294407
156. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.104T>C p.(L35P)
  
  CGType:Variant CG:BulkAnnotation Variant:2 ClinVarID:657328 CAID:CA279502031
157. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
  
  HGVS: NM_024675.3:c.1010T>C p.(L337S)
  
  CGType:Variant CG:BulkAnnotation Variant:1 ClinVarID:126582 CAID:CA151212
Visit annotations in context

Tags

ClinVarID:461007

Variant:2

CAID:CA163908

AssayControl:Normal

Variant:70

ValidationControl:WildType

CAID:CA299784

CAID:CA923726356

Variant:53

ClinVarID:126623

Variant:13

ClinVarID:657328

Variant:6

Variant:17

CAID:CA395141313

Variant:66

ClinVarID:1243

Variant:38

CAID:CA161315

ClinVarID:126774

CAID:CA294407

ClinVarID:126670

Variant:54

CAID:CA210470

ClinVarID:182790

Variant:42

Variant:8

Variant:18

CAID:CA350039

CAID:CA151222

CAID:CA269551

CAID:CA10579985

CAID:CA288398

ClinVarID:182773

CAID:CA185966

FuncAssay:2

CAID:CA395141474

ClinVarID:126711

CAID:CA395141224

ClinVarID:126699

CAID:CA251004

FuncAssay:1

Variant:45

Variant:28

ClinVarID:229718

ClinVarID:128136

Variant:58

ClinVarID:567901

Variant:7

CAID:CA151230

Variant:29

ClinVarID:126761

CAID:CA163622

CAID:CA197176

ClinVarID:126706

ClinVarID:182786

Variant:5

Variant:47

ClinVarID:126740

CAID:CA299747

Variant:41

ClinVarID:232977

ValidationControl:Pathogenic

CAID:CA269625

ClinVarID:134994

Variant:23

CAID:CA161333

CAID:CA7963653

Variant:11

CAID:CA192169

Variant:31

CAID:CA395145110

ClinVarID:126738

CAID:CA288386

Variant:67

CAID:CA151250

Variant:50

ClinVarID:216752

ClinVarID:142079

Variant:55

Variant:48

CAID:CA151229

ClinVarID:546043

Variant:40

CAID:CA16621924

ClinVarID:126609

ClinVarID:484219

Variant:19

CAID:CA151212

Variant:69

Variant:64

Variant:37

ClinVarID:241553

CAID:CA279530867

CAID:CA279524947

ClinVarID:484186

Variant:68

CGType:FunctionalAssayResult

CAID:CA339433

Variant:65

ClinVarID:126758

ClinVarID:186939

CAID:CA10579934

Variant:44

Variant:62

CAID:CA161342

ClinVarID:126582

AssayControl:Abnormal

ClinVarID:1246

ClinVarID:126747

CAID:CA395139673

CAID:CA494163316

ClinVarID:187262

ClinVarID:126683

Variant:60

ClinVarID:126607

Variant:51

CAID:CA269492

ClinVarID:126600

CAID:CA395125757

CAID:CA395144208

CAID:CA299663

CAID:CA164468

ClinVarID:126590

Variant:30

Variant:56

CAID:CA395144928

Variant:34

CAID:CA395139401

ClinVarID:182741

Variant:15

Variant:61

CAID:CA10580054

CAID:CA161327

CAID:CA294562

ClinVarID:142468

Variant:57

ClinVarID:126594

Variant:21

CAID:CA331796

Variant:49

Variant:22

ClinVarID:126669

CAID:CA7963465

ClinVarID:1245

CAID:CA195974

CAID:CA251717

Variant:63

ClinVarID:186824

ClinVarID:230588

Variant:59

Variant:46

CAID:CA196017

ClinVarID:922719

Variant:10

ClinVarID:185518

Variant:12

CAID:CA196291

Variant:39

ClinVarID:530038

CAID:CA269654

CAID:CA395137985

ClinVarID:484164

Variant:32

ClinVarID:126595

ClinVarID:219647

CAID:CA395144862

Variant:25

CAID:CA288478

Variant:35

ClinVarID:186840

ClinVarID:126613

ValidationControl:Benign

CAID:CA151233

Variant:27

Variant:9

Variant:20

CAID:CA279502031

ClinVarID:126630

CAID:CA395137656

CAID:CA395122261

CAID:CA16620118

CAID:CA151242

Variant:14

CGType:Variant

ClinVarID:420826

Variant:43

ClinVarID:460996

Variant:33

CG:BulkAnnotation

Variant:4

CAID:CA395142764

Variant:3

ClinVarID:126749

CAID:CA395137855

CAID:CA167348

CAID:CA250432

Variant:36

CAID:CA395121845

Variant:24

Variant:1

CAID:CA658658444

Variant:52

Variant:26

Variant:16

CAID:CA151239

Annotators

shannon_mcnulty

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
www.cell.com www.cell.com

High-Throughput Reclassification of SCN5A Variants

43
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 100
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 471
  
  StandardErrorMean: 3.7
  
  ControlType: Normal; wild type
  
  Comment: This variant (wildtype) had normal function. All other variant parameters were normalized to the values of wildtype. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 ValidationControl:WildType AssayControl:Normal
2. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 59.3
  
  AssayResultAssertion: Indeterminate
  
  ReplicateCount: 30
  
  StandardErrorMean: 8.3
  
  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:77 CAID:CA019516 ClinVarID:201546
3. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 28.4
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 13
  
  StandardErrorMean: 8.6
  
  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:76 CAID:CA064645 ClinVarID:518750
4. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 45.3
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 31
  
  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).
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:71 CAID:CA352142022
5. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 37.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 26
  
  StandardErrorMean: 3.8
  
  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:70 CAID:CA018943 ClinVarID:67960
6. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 23.1
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 33
  
  StandardErrorMean: 3.2
  
  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:69 CAID:CA018904 ClinVarID:67957
7. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 89.5
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 29
  
  StandardErrorMean: 14.6
  
  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:68 CAID:CA018863 ClinVarID:67952
8. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0.9
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 18
  
  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:67 CAID:CA018848 ClinVarID:67951
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
Visit annotations in context

Tags

AssayControl:Normal

Variant:70

ValidationControl:WildType

ClinVarID:67918

CAID:CA017946

ClinVarID:67940

Variant:53

Variant:60

ClinVarID:518750

Variant:51

ClinVarID:67820

CAID:CA352145324

ClinVarID:67864

ClinVarID:67951

Variant:17

ClinVarID:67742

ClinVarID:67869

Variant:30

Variant:56

ClinVarID:67884

Variant:66

ClinVarID:67747

Variant:61

Variant:38

CAID:CA016490

ClinVarID:67737

CAID:CA016076

CAID:CA016482

Variant:54

ClinVarID:67727

Variant:57

Variant:18

ClinVarID:67752

Variant:21

CAID:CA017913

CAID:CA018048

CAID:CA018042

Variant:22

CAID:CA016384

CAID:CA018943

ClinVarID:67830

FuncAssay:1

CAID:CA017837

Variant:45

Variant:28

CAID:CA017472

CAID:CA016228

CAID:CA018904

CAID:CA018516

Variant:59

Variant:46

ClinVarID:67852

CAID:CA060381

ClinVarID:67952

CAID:CA018079

CAID:CA018848

Variant:47

CAID:CA016059

Variant:41

CAID:CA017796

Variant:39

ClinVarID:67757

CAID:CA016274

ClinVarID:67873

CAID:CA017955

ClinVarID:67920

Variant:32

ClinVarID:67874

CAID:CA017557

Variant:25

CAID:CA352141945

CAID:CA352143498

Variant:35

CAID:CA018863

ClinVarID:67960

CAID:CA018747

Variant:67

Variant:71

CAID:CA017513

Variant:27

ClinVarID:9399

CAID:CA019516

Variant:50

Variant:20

ClinVarID:67866

CAID:CA352142022

ClinVarID:67756

Variant:55

CAID:CA018812

Variant:76

ClinVarID:67957

Variant:43

ClinVarID:67867

CAID:CA018163

Variant:33

Variant:69

Variant:64

CG:BulkAnnotation

CAID:CA016428

Variant:19

ClinVarID:67854

ClinVarID:201523

ClinVarID:67810

ClinVarID:201546

Variant:68

CGType:FunctionalAssayResult

CAID:CA064645

CAID:CA016182

CAID:CA017969

CAID:CA352139743

CAID:CA018503

ClinVarID:67857

Variant:52

CAID:CA352146767

Variant:26

Variant:77

ClinVarID:67732

ClinVarID:628262

ClinVarID:67876

CAID:CA352143353

CAID:CA017808

CAID:CA017399

ClinVarID:48294

Variant:62

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shannon_mcnulty

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cell.com/ajhg/fulltext/S0002-9297(20)30162-2

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