1,045 Matching Annotations

Feb 2021
jmg.bmj.com jmg.bmj.com

Blood functional assay for rapid clinical interpretation of germline TP53 variants

200
1. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
2. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 102
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
3. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 105
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
4. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 85
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
5. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 88
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
6. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 95
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
7. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 99
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
8. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 125
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
9. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 115
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
10. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
11. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 75
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
12. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 88
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
13. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 79
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
14. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
15. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 91
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
16. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
17. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 102
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
18. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 80
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
19. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 90
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
20. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 85
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
21. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 90
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
22. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 116
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
23. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 103
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
24. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 89
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
25. 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.761T>C p.(Ile254Thr)
  
  CGType:Variant Variant:40 CAID:CA397837761
26. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8.3
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
27. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
28. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
29. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
30. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 100
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
31. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 122
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
32. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
33. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 97
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
34. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 78
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
35. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 79
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
36. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 94
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
37. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 98
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
38. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
39. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 78
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
40. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 95
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
41. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 89
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
42. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 92
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
43. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 95
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
44. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 74
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
45. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 83
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
46. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
47. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 95
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
48. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 82
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
49. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 100
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
50. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 117
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
51. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
52. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 112
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
53. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 87
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
54. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 92
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
55. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
56. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451
57. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.5, 5.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:4 CAID:CA000049 ClinVarID:35555
58. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 20.5
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:1 CAID:CA1139768486
59. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:42 CAID:CA645588451
60. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.6, 4.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:17 CAID:CA10584593 ClinVarID:246343
61. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:12 CAID:CA1139768485
62. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4, 5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:7 CAID:CA397832246 ClinVarID:481148
63. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.8, 6.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:6 CAID:CA397832401
64. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.3
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
65. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:45 CAID:CA16603061 ClinVarID:376644
66. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 17.1
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:26 CAID:CA000272 ClinVarID:127816
67. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:20 CAID:CA000225 ClinVarID:127812
68. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:18 CAID:CA397842793
69. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:15 CAID:CA000123 ClinVarID:127808
70. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:10 CAID:CA000102 ClinVarID:141114
71. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:8 CAID:CA000071 ClinVarID:185120
72. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.9
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:35 CAID:CA000343 ClinVarID:127821 ValidationControl:Benign
73. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
74. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.1, 6.0
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
75. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
76. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
77. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
78. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
79. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
80. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
81. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 14.7
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
82. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 16
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
83. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.3
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
84. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
85. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 16.3
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
86. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 15.4
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
87. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 19.3
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
88. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 9.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
89. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 9.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
90. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8.7
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
91. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 15.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
92. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.4
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
93. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
94. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 17.2
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
95. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 19.7
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
96. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
97. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 17.4
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
98. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.7
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
99. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 14.2
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
100. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
101. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 18.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
102. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 15.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
103. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 14.7
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
104. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
105. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
106. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.7
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
107. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 9.4
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
108. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.9
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
109. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
110. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 13
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
111. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8.4
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
112. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 15.4
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
113. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 13
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
114. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 22.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
115. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 14.6
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
116. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 16.5
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
117. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 14.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
118. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.3
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
119. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.5
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
120. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
121. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
122. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
123. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
124. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 14.6
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
125. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.6
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
126. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8.9
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
127. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.1
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
128. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.6
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
129. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.5
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
130. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 82
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
131. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 80
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
132. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 69
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
133. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 99
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
134. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 98
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
135. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 77
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
136. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 105
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
137. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
138. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 104
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
139. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 99
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
140. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 83
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
141. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 91
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
142. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
143. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 56
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
144. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 61
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
145. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 51
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
146. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 66
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
147. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 60
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
148. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 65
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
149. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 66
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
150. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 45
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
151. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 58
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:3 ValidationControl:Pathogenic
152. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 49
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:2 ValidationControl:Pathogenic
153. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 83
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
154. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
155. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 91
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
156. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 94
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
157. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 97
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
158. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 98
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
159. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
160. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 105
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
161. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 88
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53 from control 3
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
162. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 95
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53 from control 2
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
163. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 100
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53 from control 1
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
164. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
165. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
166. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
167. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
168. 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.572C>G p.(Pro191Arg)
  
  CGType:Variant Variant:26 ClinVarID:127816 CAID:CA000272
169. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
170. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
171. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
172. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
173. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
174. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
175. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
176. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
177. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
178. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
179. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
180. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
181. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
182. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8.6
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
183. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
184. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
185. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
186. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:3 ValidationControl:Pathogenic
187. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:2 ValidationControl:Pathogenic
188. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
189. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
190. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
191. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
192. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
193. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.6
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
194. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
195. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
196. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 11.5
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53 from control 3
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
197. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.8
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53 from control 2
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
198. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 13.6
  
  AssayResultAssertion: Normal
  
  ControlType: Normal, wild type TP53 from control 1
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
199. 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.*1175A>C
  
  CGType:Variant Variant:4 ClinVarID:35555 CAID:CA000049
200. 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.-117G>T
  
  CGType:Variant Variant:1 CAID:CA1139768486
Visit annotations in context

Tags

CAID:CA000259

CAID:CA000272

CAID:CA397832401

ClinVarID:185120

CAID:CA000434

Variant:1

ClinVarID:177825

Variant:6

ClinVarID:420137

CAID:CA497925664

Variant:43

CAID:CA16603061

ClinVarID:127825

ClinVarID:100815

ClinVarID:127821

ClinVarID:376659

Variant:49

CAID:CA000343

Variant:47

Variant:40

ClinVarID:246343

Variant:33

CAID:CA497717451

CGType:FunctionalAssayResult

Variant:17

Variant:48

CAID:CA000225

CAID:CA000144

CAID:CA000454

Variant:46

ClinVarID:376613

CAID:CA16603066

Variant:37

CAID:CA497716198

Variant:44

Variant:34

CAID:CA16603034

CAID:CA1139768486

Variant:32

ClinVarID:481148

CAID:CA000382

CAID:CA000106

Variant:50

FuncAssay:2

Variant:2

CAID:CA000493

Variant:8

ClinVarID:127808

ClinVarID:142702

CAID:CA1139768487

ClinVarID:135359

CAID:CA000302

ClinVarID:182965

Variant:4

ClinVarID:12379

CAID:CA000457

CAID:CA000468

Variant:7

Variant:51

CAID:CA16603033

Variant:3

AssayControl:Normal

ClinVarID:127816

CAID:CA000073

Variant:12

CAID:CA16620623

ClinVarID:376612

ClinVarID:12366

ClinVarID:376644

Variant:11

CAID:CA000049

Variant:26

Variant:18

CAID:CA000251

CAID:CA000256

ValidationControl:WildType

CAID:CA000071

Variant:22

Variant:16

CAID:CA645369686

ClinVarID:12364

CAID:CA000013

ClinVarID:428860

ClinVarID:142320

Variant:14

Variant:20

ClinVarID:127815

CGType:Variant

ClinVarID:127824

CAID:CA397836336

FuncAssay:1

ClinVarID:41723

CAID:CA1139768485

Variant:9

Variant:29

ClinVarID:141114

Variant:25

CAID:CA397832246

Variant:30

CAID:CA397844631

FuncAssay:3

Variant:36

CAID:CA645588451

CAID:CA645588668

Variant:38

CAID:CA397842793

Variant:39

ClinVarID:634779

CAID:CA10584593

CAID:CA397839547

Variant:15

CAID:CA000102

CAID:CA000308

CAID:CA000123

Variant:28

Variant:35

ClinVarID:12374

FuncAssay:4

ClinVarID:35555

Variant:31

Variant:10

ClinVarID:127812

ClinVarID:12356

ClinVarID:376649

Variant:42

Variant:41

Variant:27

ClinVarID:458555

CAID:CA16603074

Variant:21

Variant:19

Variant:13

Variant:5

ClinVarID:12347

CAID:CA645588993

ClinVarID:182957

ValidationControl:Pathogenic

Variant:23

Variant:45

CAID:CA000387

ValidationControl:Benign

CAID:CA397837761

CAID:CA1139768484

Variant:24

CAID:CA000374

Annotators

shannon_mcnulty

URL

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

shannon_mcnulty

Annotations: 1,045

Joined: January 7, 2019

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