Hypothesis

7,966 Matching Annotations

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

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor

39
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 97.59
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:27 CAID:CA299750 ClinVarID:182774
2. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 94.36
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:26 CAID:CA239946 ClinVarID:126727
3. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 98.94
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:25 CAID:CA395140053
4. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 87.19
  
  AssayResultAssertion: Not reported
  
  PValue: 0.341
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:24 CAID:CA168501 ClinVarID:126716
5. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 98.25
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA7963418 ClinVarID:422560
6. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 57.61
  
  AssayResultAssertion: Abnormal
  
  PValue: < 0.0001
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:22 CAID:CA10579934 ClinVarID:232977
7. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 109.2
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:21 CAID:CA277851 ClinVarID:217917
8. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 95.47
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:20 CAID:CA294183 ClinVarID:126708
9. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 97.77
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:19 CAID:CA7963442
10. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 103.5
  
  AssayResultAssertion: Normal
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:18 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
11. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 100.7
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:17 CAID:CA334766 ClinVarID:188387
12. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 102.6
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:16 CAID:CA269585 ClinVarID:126693
13. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 77.32
  
  AssayResultAssertion: Indeterminate
  
  PValue: 0.0002
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA395144524 ClinVarID:657666
14. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 82.22
  
  AssayResultAssertion: Indeterminate
  
  PValue: 0.004
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:14 CAID:CA7963465 ClinVarID:241553
15. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 96.97
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:13 CAID:CA151239 ClinVarID:126683
16. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 102.1
  
  AssayResultAssertion: Normal
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA151236 ClinVarID:126682 ValidationControl:Benign
17. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 101.6
  
  AssayResultAssertion: Normal
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:10 CAID:CA151233 ClinVarID:126669 ValidationControl:Benign
18. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 109.7
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:45 CAID:CA269666 ClinVarID:126782
19. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 109.4
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:43 CAID:CA288504 ClinVarID:128150
20. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 107.5
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA161333 ClinVarID:126761
21. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 100.5
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:39 CAID:CA331799 ClinVarID:126760
22. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 103.3
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:37 CAID:CA269636 ClinVarID:126755
23. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 108.7
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:36 CAID:CA279500159 ClinVarID:487020
24. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 106.8
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:34 CAID:CA193686 ClinVarID:126743
25. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 94.01
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:12 CAID:CA279500276
26. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 92.68
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:9 CAID:CA196624 ClinVarID:187058
27. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 92.03
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:7 CAID:CA288441 ClinVarID:126647
28. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 93.06
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:6 CAID:CA348162 ClinVarID:220168
29. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 86.49
  
  AssayResultAssertion: Not reported
  
  PValue: 0.3376
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:5 CAID:CA161321 ClinVarID:128124
30. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 76.21
  
  AssayResultAssertion: Indeterminate
  
  PValue: 0.0001
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:4 CAID:CA395139336
31. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 85.76
  
  AssayResultAssertion: Indeterminate
  
  PValue: 0.0445
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA288386 ClinVarID:126590
32. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 47.64
  
  AssayResultAssertion: Abnormal
  
  PValue: < 0.0001
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:1 CAID:CA279502031 ClinVarID:657328 ValidationControl:Pathogenic
33. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 86.51
  
  AssayResultAssertion: Not reported
  
  PValue: 0.2166
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:44 CAID:CA161318 ClinVarID:126781
34. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 97.46
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA269663 ClinVarID:126779
35. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 91.53
  
  AssayResultAssertion: Not reported
  
  PValue: > 0.9999
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:41 CAID:CA269654 ClinVarID:126774
36. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 82.06
  
  AssayResultAssertion: Indeterminate
  
  PValue: 0.0058
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:38 CAID:CA161315 ClinVarID:126758
37. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 76.45
  
  AssayResultAssertion: Indeterminate
  
  PValue: 0.0001
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:8 CAID:CA299799 ClinVarID:126652
38. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  SUPPLEMENTARY DATA
  
  AssayResult: 86.74
  
  AssayResultAssertion: Not reported
  
  PValue: 0.1836
  
  Comment: Exact values reported in Table S3.
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:3 CAID:CA288392 ClinVarID:126593
39. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
  
  HGVS: NM_024675.3:c.104T>C p.(Leu35Pro)
  
  CGType:Variant CG:BulkAnnotation Variant:1 ClinVarID:657328 CAID:CA279502031
Visit annotations in context

Tags

ClinVarID:126699

CAID:CA269585

CAID:CA395139336

Variant:15

CGType:FunctionalAssayResult

ClinVarID:487020

CAID:CA151233

ClinVarID:126682

ClinVarID:220168

Variant:22

ClinVarID:126755

ClinVarID:241553

Variant:16

CAID:CA395144524

Variant:18

Variant:5

CAID:CA7963465

ClinVarID:217917

Variant:4

CAID:CA239946

ClinVarID:182774

CAID:CA299750

ClinVarID:126782

ClinVarID:126743

Variant:2

Variant:42

ClinVarID:422560

CAID:CA277851

ClinVarID:126683

CAID:CA279500159

CAID:CA269636

Variant:17

CAID:CA288441

CGType:Variant

CAID:CA161315

Variant:3

CAID:CA348162

FuncAssay:1

Variant:26

CAID:CA395140053

Variant:20

ClinVarID:126761

ClinVarID:657328

ClinVarID:126593

ClinVarID:126647

ClinVarID:126590

Variant:14

CG:BulkAnnotation

Variant:40

Variant:19

CAID:CA294183

CAID:CA334766

Variant:8

CAID:CA161321

Variant:43

Variant:11

CAID:CA331799

CAID:CA151242

Variant:9

Variant:44

CAID:CA161318

CAID:CA288392

Variant:38

ValidationControl:Benign

Variant:27

Variant:10

ClinVarID:126727

CAID:CA279502031

Variant:21

Variant:45

ClinVarID:128150

Variant:7

ClinVarID:232977

ClinVarID:188387

CAID:CA151239

ClinVarID:126716

Variant:36

CAID:CA193686

CAID:CA269663

ClinVarID:126779

CAID:CA168501

CAID:CA10579934

ClinVarID:126669

ClinVarID:126708

CAID:CA196624

ClinVarID:126760

Variant:37

Variant:25

Variant:23

ClinVarID:128124

CAID:CA7963418

Variant:12

Variant:13

ClinVarID:126781

ClinVarID:126652

CAID:CA151236

ClinVarID:187058

Variant:34

Variant:6

ValidationControl:Pathogenic

ClinVarID:126693

Variant:39

CAID:CA288504

ClinVarID:657666

CAID:CA269654

ClinVarID:126774

Variant:41

CAID:CA288386

CAID:CA161333

ClinVarID:126758

Variant:24

CAID:CA279500276

CAID:CA7963442

CAID:CA299799

CAID:CA269666

Variant:1

Annotators

shannon_mcnulty

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6847799/
www.biorxiv.org www.biorxiv.org

A systematic CRISPR screen reveals an IL-20/IL20RA-mediated peritoneal immune crosstalk to prevent the ovarian cancer metastasis

1
1. samporteous 18 Mar 2021
  
  in eLife
  
  Reviewer #1 (Public Review):
  
  The authors used a CRISPR screen to investigate the basis of metastasis of ovarian cancer (OC) cells. Overall, they identified two key genes, IL20RA, one of which was studied in detail. They identify an IL20/IL20RA communication between ovarian cancer cells and peritoneal mesothelial cells to promote M1 macrophages and prevent dissemination of the cancer cells. IL-20 mediated crosstalk is blocked in metastasized OC cells by decreased expression of IL-20RA. Interestingly, IL20RA is also decreased in cells from OC patients with peritoneal metastasis, and reconstitution of IL20RA in metastatic OC cells suppresses metastasis. Moreover, OC cells induce mesothelial cells to produce IL20 and IL24.
  
  Overall, this is a nice study. It is well-written, and the data are clear. A range of methodologies are used that support the conclusions, with both over-expression and under-expression related studies supporting some key conclusions.
  
  The overall model is that there is crosstalk between disseminated OC cells and mesothelial cells and macrophages. OC cells when disseminated into the peritoneal cavity stimulate mesothelial cells to produced IL20 and IL24, which via IL20RA trigger STAT3 to produced OAS/RNase L and production of IL-18, to promote an M1 phenotype. The M1 phenotype lowers metastasis. Highly metastatic cells block this pathway by decreasing IL20RA expression.
  
  These findings are interesting, with potential therapeutic ramifications.
  
  scietyCreator:Reviewer 1 scietyType:PeerReview
Visit annotations in context

Tags

scietyType:PeerReview

scietyCreator:Reviewer 1

Annotators

samporteous

URL

biorxiv.org/content/10.1101/2021.01.03.425154v1
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

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

79
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  A cell-based functional assay for PALB2 variants
  
  AssayGeneralClass: BAO:0003061 reporter protein
  
  AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line
  
  AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; I-SceI endonuclease introduces a double-stranded break in the reporter construct and efficient repair results in GFP expression, which is detected by flow cytometry
  
  AssayReadOutDescription: Relative homologous recombination (HR) efficiency represented as mean percentages of GFP-positive cells among the mCherry-positive cells relative to wild type, which was set to 100%
  
  AssayRange: %
  
  AssayNormalRange: HR levels comparable to that of cells expressing wild type PALB2; no numeric threshold given
  
  AssayAbnormalRange: HR levels ≤40% of wild type
  
  AssayIndeterminateRange: Not reported
  
  ValidationControlPathogenic: 12
  
  ValidationControlBenign: 9
  
  Replication: 2 independent experiments
  
  StatisticalAnalysisDescription: Not reported
  
  CGType:FunctionalAssay FuncAssay:1 BAO:0003061 CLO:0037317 MONDO:0016419 HGNC:26144 AssayRangeType:Quantitative UO:0000187
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
44. 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
45. 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
46. 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
47. 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
48. 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
49. 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
50. 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
51. 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
52. 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
53. 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
54. 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
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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
61. 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
62. 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
63. 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
64. 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
65. 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
66. 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
67. 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
68. 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
69. 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
70. 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
71. 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
72. 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
73. 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
74. 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
75. 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
76. 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
77. 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
78. 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
79. 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:126699

ClinVarID:126595

Variant:66

Variant:29

Variant:48

Variant:22

CAID:CA279530867

ClinVarID:241553

Variant:60

ClinVarID:134994

ClinVarID:126706

Variant:31

ClinVarID:126600

CAID:CA269551

Variant:18

Variant:5

CAID:CA251717

CAID:CA164468

Variant:2

Variant:56

Variant:65

ClinVarID:126738

ClinVarID:126711

ClinVarID:567901

ClinVarID:142079

Variant:28

CAID:CA395137656

Variant:30

CAID:CA161315

CGType:Variant

CAID:CA350039

ClinVarID:182790

FuncAssay:1

Variant:67

ClinVarID:657328

ClinVarID:126761

CAID:CA395141474

ClinVarID:126590

CAID:CA7963653

Variant:14

Variant:40

CAID:CA395145110

CAID:CA185966

Variant:63

Variant:8

CAID:CA210470

ClinVarID:216752

Variant:43

CAID:CA395144862

CAID:CA251004

CAID:CA151229

Variant:51

ValidationControl:Benign

Variant:10

ClinVarID:142468

Variant:21

Variant:46

ClinVarID:546043

ClinVarID:182773

Variant:36

CAID:CA250432

CAID:CA288478

CAID:CA10579934

CAID:CA923726356

ClinVarID:126630

CAID:CA269625

CAID:CA151250

CAID:CA167348

AssayRangeType:Quantitative

AssayControl:Abnormal

CAID:CA395139401

ClinVarID:126669

ClinVarID:484219

CAID:CA494163316

HGNC:26144

Variant:52

ClinVarID:126582

CAID:CA395142764

CAID:CA395121845

Variant:62

Variant:39

Variant:41

Variant:53

CAID:CA288386

CAID:CA161333

ClinVarID:126758

CAID:CA395144928

ClinVarID:530038

Variant:1

Variant:68

CGType:FunctionalAssayResult

Variant:15

CAID:CA395125757

CAID:CA196017

CAID:CA161327

CAID:CA151233

CAID:CA163622

Variant:55

MONDO:0016419

ClinVarID:484186

ClinVarID:128136

FuncAssay:2

Variant:16

CLO:0037317

CAID:CA288398

ClinVarID:922719

Variant:47

Variant:61

ClinVarID:126623

CAID:CA7963465

ClinVarID:1243

Variant:4

ClinVarID:126613

CAID:CA331796

ClinVarID:229718

Variant:70

CAID:CA151222

Variant:42

ClinVarID:187262

Variant:57

ClinVarID:186824

Variant:33

ClinVarID:219647

ClinVarID:126683

Variant:17

Variant:3

ClinVarID:126740

Variant:26

ClinVarID:484164

Variant:20

Variant:64

CAID:CA339433

ClinVarID:186840

Variant:69

UO:0000187

CAID:CA196291

ClinVarID:182741

CG:BulkAnnotation

Variant:58

CAID:CA395137855

CAID:CA395141313

CAID:CA151212

ClinVarID:126670

CAID:CA195974

Variant:50

CAID:CA395141224

Variant:19

CAID:CA151230

CAID:CA192169

CAID:CA16621924

ClinVarID:185518

CGType:FunctionalAssay

Variant:11

ClinVarID:126607

CAID:CA395139673

CAID:CA151242

Variant:9

Variant:44

ClinVarID:1246

CAID:CA161342

Variant:38

CAID:CA16620118

Variant:27

CAID:CA279502031

ClinVarID:230588

Variant:45

ClinVarID:420826

CAID:CA10580054

Variant:7

ClinVarID:126609

ClinVarID:232977

CAID:CA269492

AssayControl:Normal

CAID:CA299784

ClinVarID:460996

CAID:CA197176

Variant:59

CAID:CA395122261

CAID:CA151239

ClinVarID:186939

Variant:32

CAID:CA658658444

Variant:54

ClinVarID:126747

Variant:49

Variant:37

Variant:25

Variant:23

CAID:CA294407

CAID:CA279524947

Variant:13

Variant:12

Variant:35

CAID:CA299663

Variant:34

ValidationControl:Pathogenic

ClinVarID:1245

CAID:CA269654

CAID:CA294562

ClinVarID:126774

CAID:CA395144208

ClinVarID:126749

BAO:0003061

CAID:CA10579985

Variant:6

CAID:CA163908

CAID:CA395137985

ClinVarID:182786

Variant:24

ClinVarID:461007

ClinVarID:126594

CAID:CA299747

ValidationControl:WildType

Annotators

shannon_mcnulty

URL

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

High-Throughput Reclassification of SCN5A Variants

81
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Automated Patch ClampingCells were patch clamped with the SyncroPatch 384PE automated patch clamping device (Nanion). To prepare cells for patch clamping, cells were washed in PBS, treated with Accutase (Millipore-Sigma) for 3 min at 37°C, then recovered in CHO-S-serum free media (GIBCO). Cells were pelleted and resuspended in divalent-free reference solution (DVF) at ∼200,000–400,000 cells/mL. DVF contained (mM) NaCl 140, KCl 4, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with NaOH. Cells were then added to a medium resistance (4–6 MΩ) 384-well recording chamber with 1 patch aperture per well (NPC-384, Nanion), which contained DVF and internal solution: CsCl 10, NaCl 10, CsF 110, EGTA 10, HEPES 10 (pH 7.2) adjusted with CsOH. Next, to enhance seal resistance, 50% of the DVF was exchanged with a calcium-containing seal enhancing solution: NaCl 80, NMDG 60, KCl 4, MgCl2 1, CaCl2 10, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with HCl. The cells were washed three times in external recording solution: NaCl 80, NMDG 60, KCl 4, MgCl2 1, CaCl2 2, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with HCl. Currents elicited in response to activation, inactivation, and recovery from inactivation protocols were then recorded (Figure S2). A late current measurement was captured every 5 s. After 1 min, 50% of the external solution was exchanged with external solution containing 200 μM tetracaine hydrochloride (Sigma; effective concentration 100 μM tetracaine). After tetracaine addition, late current measurements were obtained every 5 s for 1 additional minute. At least 10 cells expressing wild-type SCN5A were included for comparison in each SyncroPatch experiment (Figure 1), and at least 2 independent transfections and at least 10 replicate cells were studied per mutant. Recordings were performed at room temperature.We also conducted experiments to assess the effects of incubation at low temperature or mexiletine (a sodium channel blocker), interventions reported to increase cell surface expression of mistrafficked channels.27Clatot J. Ziyadeh-Isleem A. Maugenre S. Denjoy I. Liu H. Dilanian G. Hatem S.N. Deschênes I. Coulombe A. Guicheney P. Neyroud N. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.Cardiovasc. Res. 2012; 96: 53-63Crossref PubMed Scopus (62) Google Scholar, 28Makiyama T. Akao M. Tsuji K. Doi T. Ohno S. Takenaka K. Kobori A. Ninomiya T. Yoshida H. Takano M. et al.High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.J. Am. Coll. Cardiol. 2005; 46: 2100-2106Crossref PubMed Scopus (99) Google Scholar, 29Pfahnl A.E. Viswanathan P.C. Weiss R. Shang L.L. Sanyal S. Shusterman V. Kornblit C. London B. Dudley Jr., S.C. A sodium channel pore mutation causing Brugada syndrome.Heart Rhythm. 2007; 4: 46-53Abstract Full Text Full Text PDF PubMed Scopus (49) Google Scholar, 30Valdivia C.R. Ackerman M.J. Tester D.J. Wada T. McCormack J. Ye B. Makielski J.C. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine.Cardiovasc. Res. 2002; 55: 279-289Crossref PubMed Scopus (77) Google Scholar, 31Valdivia C.R. Tester D.J. Rok B.A. Porter C.B. Munger T.M. Jahangir A. Makielski J.C. Ackerman M.J. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.Cardiovasc. Res. 2004; 62: 53-62Crossref PubMed Scopus (106) Google Scholar For these experiments, cells stably expressing loss-of-function variants were generated as described above. The cells were incubated for 24 h at 30°C, or at 37°C with or without 500 μM mexiletine hydrochloride (Sigma), washed with HEK media, and were patch clamped as described above.
  
  AssayGeneralClass: BAO:0000062 patch clamp
  
  AssayMaterialUsed: CLO:0037237 HEK293-derived cell
  
  AssayDescription: HEK293T-derived cells stably expressing wild type or variant SCN5A were patch clamped and currents elicited in response to activation, inactivation, and recovery from inactivation were recorded, as well as late current measurements.
  
  AssayReadOutDescription: Peak current density relative to wild type, which was set to 100%
  
  AssayRange: %
  
  AssayNormalRange: Peak current density 75-125% of wild type
  
  AssayAbnormalRange: Peak current density 10-50% of wildtype
  
  AssayIndeterminateRange: Peak current density 50-75% of wildtype
  
  ValidationControlPathogenic: 0
  
  ValidationControlBenign: 10
  
  Replication: At least 2 independent transfections and at least 10 replicate cells per variant (see ReplicateCount in FunctionalAssayResult annotations for each variant).
  
  StatisticalAnalysisDescription: Two-tailed t tests or two-tailed Mann-Whitney U tests were used to compare variant parameters between groups of variants, while differences in dispersion between groups were tested with Levene’s test.
  
  CGType:FunctionalAssay FuncAssay:1 BAO:0000062 CLO:0037237 MONDO:0011001 AssayRangeType:Quantitative UO:0000187
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
44. 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
45. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 41.7
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 15
  
  StandardErrorMean: 10.8
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA015974 ClinVarID:67721
46. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 63.8
  
  AssayResultAssertion: Indeterminate
  
  ReplicateCount: 25
  
  StandardErrorMean: 10.1
  
  Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:13 CAID:CA015925 ClinVarID:67719
47. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0.9
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 12
  
  StandardErrorMean: 0.6
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:14 CAID:CA015938 ClinVarID:67720
48. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 68.1
  
  AssayResultAssertion: Indeterminate
  
  ReplicateCount: 18
  
  StandardErrorMean: 8.7
  
  Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:12 CAID:CA352144555
49. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 32
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 31
  
  StandardErrorMean: 5
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:9 CAID:CA014455 ClinVarID:67642
50. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 1.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 11
  
  StandardErrorMean: 0.7
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:8 CAID:CA014429 ClinVarID:67640
51. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 3.4
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 22
  
  StandardErrorMean: 0.8
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:7 CAID:CA014336 ClinVarID:67635
52. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 39
  
  StandardErrorMean: 0
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:6 CAID:CA014324 ClinVarID:67634
53. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0.6
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 25
  
  StandardErrorMean: 0.4
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:5 CAID:CA014305 ClinVarID:67633
54. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 28.5
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 21
  
  StandardErrorMean: 7.6
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:3 CAID:CA057036 ClinVarID:229230
55. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 113.2
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 30
  
  StandardErrorMean: 13.9
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA352149766
56. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 24
  
  StandardErrorMean: 0
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:1 CAID:CA352149916
57. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 1.3
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 67
  
  StandardErrorMean: 0.3
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:81 CAID:CA019844 ClinVarID:68047
58. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0.8
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 14
  
  StandardErrorMean: 0.6
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:80 CAID:CA019833 ClinVarID:68045
59. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 34.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 14
  
  StandardErrorMean: 6.7
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:79 CAID:CA019709 ClinVarID:68031
60. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 109.6
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 11
  
  StandardErrorMean: 19.8
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:74 CAID:CA019140 ClinVarID:67986
61. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 117.8
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 15
  
  StandardErrorMean: 14.5
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:73 CAID:CA019045 ClinVarID:67971
62. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 39
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 16
  
  StandardErrorMean: 6.4
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:48 CAID:CA017871 ClinVarID:67861
63. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 119.6
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 22
  
  StandardErrorMean: 19.5
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:36 CAID:CA016995 ClinVarID:67787
64. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 0.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 15
  
  StandardErrorMean: 0.2
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:34 CAID:CA016523 ClinVarID:67758
65. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 32.8
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 16
  
  StandardErrorMean: 5
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:24 CAID:CA016221 ClinVarID:67736
66. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 89.4
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 26
  
  StandardErrorMean: 12.7
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:72 CAID:CA064275 ClinVarID:463345 ValidationControl:Benign
67. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 85.1
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 35
  
  StandardErrorMean: 10.6
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:49 CAID:CA017888 ClinVarID:201506 ValidationControl:Benign
68. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 103.2
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 33
  
  StandardErrorMean: 12.7
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA017547 ClinVarID:67829 ValidationControl:Benign
69. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 120.5
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 33
  
  StandardErrorMean: 13.6
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA017494 ClinVarID:67824 ValidationControl:Benign
70. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 94.8
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 33
  
  StandardErrorMean: 12.6
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:31 CAID:CA016475 ClinVarID:48295 ValidationControl:Benign
71. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 109.1
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 26
  
  StandardErrorMean: 14.8
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA016206 ClinVarID:67734 ValidationControl:Benign
72. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 101
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 41
  
  StandardErrorMean: 8.9
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA059817 ClinVarID:242192 ValidationControl:Benign
73. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 104.3
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 30
  
  StandardErrorMean: 16.3
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:83 CAID:CA019926 ClinVarID:68055 ValidationControl:Benign
74. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 105.8
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 36
  
  StandardErrorMean: 12.7
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:82 CAID:CA019856 ClinVarID:68049 ValidationControl:Benign
75. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 103.2
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 37
  
  StandardErrorMean: 21.8
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA064027 ValidationControl:Benign
76. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 51.9
  
  AssayResultAssertion: Indeterminate
  
  ReplicateCount: 12
  
  StandardErrorMean: 18.8
  
  Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It had unmeasured late current, but has been previously reported to have high late current (GOF feature). Therefore it was considered to meet neither the abnormal or normal functional parameter. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:75 CAID:CA019148 ClinVarID:9377
77. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 64.8
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 31
  
  StandardErrorMean: 11.1
  
  Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It also had a very large increase in recovery from inactivation (>10-fold slower). Therefore it was considered to have a partial loss of function (in vitro function consistent with Brugada Syndrome). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:63 CAID:CA018735 ClinVarID:67939
78. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 2.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 16
  
  StandardErrorMean: 1
  
  Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:58 CAID:CA018087 ClinVarID:67877
79. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 114.3
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 16
  
  StandardErrorMean: 22.4
  
  Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:44 CAID:CA017679 ClinVarID:9370
80. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 23.2
  
  AssayResultAssertion: Abnormal
  
  ReplicateCount: 14
  
  StandardErrorMean: 7.1
  
  Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:16 CAID:CA016002 ClinVarID:67723
81. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
  
  AssayResult: 113
  
  AssayResultAssertion: Normal
  
  ReplicateCount: 17
  
  StandardErrorMean: 28.6
  
  Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
  
  CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:10 CAID:CA058963
Visit annotations in context

Tags

ClinVarID:67940

Variant:66

CAID:CA019844

ClinVarID:67869

Variant:48

CAID:CA017796

CAID:CA016221

Variant:22

CLO:0037237

ClinVarID:67640

CAID:CA352143353

Variant:60

Variant:31

CAID:CA064027

CAID:CA017969

CAID:CA352142022

CAID:CA018863

ClinVarID:628262

CAID:CA018848

Variant:18

Variant:5

Variant:81

ClinVarID:68047

CAID:CA017955

ClinVarID:67634

ClinVarID:67736

ClinVarID:67939

Variant:2

Variant:56

ClinVarID:67824

CAID:CA017913

ClinVarID:201523

ClinVarID:67742

Variant:65

CAID:CA352149916

CAID:CA016059

Variant:28

ClinVarID:9370

Variant:30

ClinVarID:67884

ClinVarID:9377

ClinVarID:67719

FuncAssay:1

Variant:67

CAID:CA014429

ClinVarID:67874

ClinVarID:67867

ClinVarID:67642

Variant:77

ClinVarID:67854

ClinVarID:229230

CAID:CA019833

ClinVarID:201506

ClinVarID:67866

CAID:CA014455

Variant:14

CAID:CA016523

CAID:CA019856

CAID:CA017808

ClinVarID:67873

Variant:40

Variant:63

CAID:CA016428

ClinVarID:68055

CAID:CA018904

Variant:83

Variant:8

CAID:CA019926

CAID:CA016482

Variant:43

Variant:51

CAID:CA014305

ValidationControl:Benign

CAID:CA016475

Variant:10

CAID:CA017837

CAID:CA018747

Variant:21

Variant:46

CAID:CA019148

CAID:CA018735

ClinVarID:67852

ClinVarID:67971

CAID:CA016995

CAID:CA018079

Variant:36

CAID:CA352143498

ClinVarID:67861

CAID:CA017946

CAID:CA014336

ClinVarID:68049

ClinVarID:67830

CAID:CA017679

AssayRangeType:Quantitative

ClinVarID:67747

CAID:CA018048

CAID:CA018812

ClinVarID:67752

Variant:74

CAID:CA018943

ClinVarID:67918

Variant:52

ClinVarID:67756

Variant:62

MONDO:0011001

CAID:CA018042

Variant:39

Variant:41

Variant:53

CAID:CA352141945

ClinVarID:68045

CAID:CA017547

CAID:CA016206

ClinVarID:67864

Variant:1

CAID:CA017557

CAID:CA064645

Variant:68

CGType:FunctionalAssayResult

Variant:15

ClinVarID:67758

ClinVarID:67734

CAID:CA019516

CAID:CA016490

Variant:55

CAID:CA015938

ClinVarID:67951

CAID:CA060381

ClinVarID:67957

CAID:CA017399

Variant:72

CAID:CA058963

CAID:CA019045

Variant:16

Variant:80

Variant:73

CAID:CA016182

Variant:47

Variant:82

Variant:61

CAID:CA059817

BAO:0000062

CAID:CA057036

CAID:CA016274

ClinVarID:242192

CAID:CA014324

Variant:70

ClinVarID:67635

CAID:CA015974

Variant:42

Variant:57

ClinVarID:9399

ClinVarID:67633

Variant:33

CAID:CA064275

ClinVarID:67721

ClinVarID:48294

CAID:CA018516

Variant:17

ClinVarID:48295

CAID:CA352139743

CAID:CA018163

Variant:3

ClinVarID:518750

Variant:26

Variant:20

Variant:64

ClinVarID:67920

ClinVarID:67737

Variant:69

UO:0000187

CAID:CA018503

CG:BulkAnnotation

Variant:58

ClinVarID:67810

Variant:50

ClinVarID:201546

Variant:19

CAID:CA016384

CAID:CA019709

Variant:75

ClinVarID:67952

ClinVarID:68031

CGType:FunctionalAssay

ClinVarID:67732

CAID:CA016002

Variant:11

Variant:9

CAID:CA017472

CAID:CA352145324

ClinVarID:67727

CAID:CA017871

CAID:CA016076

CAID:CA017494

Variant:44

CAID:CA352144555

Variant:38

ClinVarID:67720

Variant:27

CAID:CA018087

Variant:45

Variant:7

ClinVarID:67820

CAID:CA019140

ClinVarID:67787

AssayControl:Normal

ClinVarID:67986

Variant:59

CAID:CA352146767

ClinVarID:67757

CAID:CA015925

ClinVarID:67829

Variant:32

ClinVarID:67876

ClinVarID:67857

ClinVarID:67877

Variant:54

ClinVarID:67960

Variant:49

Variant:76

Variant:25

Variant:23

CAID:CA352149766

Variant:12

Variant:13

CAID:CA016228

Variant:35

Variant:79

Variant:34

Variant:6

ClinVarID:463345

Variant:71

CAID:CA017513

Variant:24

CAID:CA017888

ClinVarID:67723

ValidationControl:WildType

Annotators

shannon_mcnulty

URL

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

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