114 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional characterization of 84 PALB2 variants of uncertain significance
    7
    1. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.5

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.03

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA169555 ClinVarID:126734 ValidationControl:Pathogenic
    2. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.5

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.05

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:68 CAID:CA167019 ClinVarID:126739 ValidationControl:Pathogenic
    3. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.6

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.15

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:76 CAID:CA151249 ClinVarID:126746 ValidationControl:Pathogenic
    4. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.6

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.07

      Comment: This variant was reported as c.2145_2146delT p.(Asp715Glufs2), however the numbering implies the deletion of two nucleotides. The deletion of TA, c.2145_2146delTA, gives the reported protein change (p.(Asp715Glufs2), and was assumed to be the intended variant. Use this evidence with caution.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA269522 ClinVarID:126638 ValidationControl:Pathogenic
    5. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.13

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:86 CAID:CA269645 ClinVarID:126767 ValidationControl:Pathogenic
    6. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 1

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:17 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    7. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 2.4

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.22

      Comment: This variant is reported as a potential hypomorphic variant.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:81 CAID:CA288488 ClinVarID:128144 ValidationControl:Pathogenic
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7056643/
  3. 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
    3
    1. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 5

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:1 CAID:CA279502031 ClinVarID:657328 ValidationControl:Pathogenic
    2. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: -98

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:1 CAID:CA279502031 ClinVarID:657328 ValidationControl:Pathogenic
    3. shannon_mcnulty 18 Mar 2021
      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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6847799/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    26
    1. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 19.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.56

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
    2. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 20.08

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.84

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    3. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 15.23

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 6.42

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as Q899X.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
    4. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:67 CAID:CA299784 ClinVarID:182786 ValidationControl:Pathogenic
    5. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 13.87

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:64 CAID:CA658658444 ClinVarID:461007 ValidationControl:Pathogenic
    6. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 9.67

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.31

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
    7. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 12.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:44 CAID:CA251004 ClinVarID:126711 ValidationControl:Pathogenic
    8. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 25.09

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:39 CAID:CA294562 ClinVarID:126706 ValidationControl:Pathogenic
    9. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 29.04

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:25 CAID:CA299663 ClinVarID:182741 ValidationControl:Pathogenic
    10. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 19.46

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:17 CAID:CA161342 ClinVarID:134994 ValidationControl:Pathogenic
    11. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.06

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:15 CAID:CA151229 ClinVarID:126623 ValidationControl:Pathogenic
    12. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    13. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 23.96

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.6

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:12 CAID:CA250432 ClinVarID:126609 ValidationControl:Pathogenic
    14. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.19

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
    15. shannon_mcnulty 18 Mar 2021
      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
      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
    17. shannon_mcnulty 18 Mar 2021
      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
    18. shannon_mcnulty 18 Mar 2021
      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
    19. shannon_mcnulty 18 Mar 2021
      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
    20. shannon_mcnulty 18 Mar 2021
      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
    21. shannon_mcnulty 18 Mar 2021
      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
    22. shannon_mcnulty 18 Mar 2021
      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
    23. shannon_mcnulty 18 Mar 2021
      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
    24. shannon_mcnulty 18 Mar 2021
      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
    25. shannon_mcnulty 18 Mar 2021
      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
    26. shannon_mcnulty 18 Mar 2021
      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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
  5. Feb 2021
  6. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    78
    1. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 62

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
    2. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 56, 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
    3. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 61

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
    4. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 101

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    5. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    6. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    7. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 81

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
    8. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    9. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
    10. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1, 6.0

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
    11. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
    12. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    13. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    14. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    15. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
    16. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    17. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    18. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
    19. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 69

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
    20. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
    21. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
    22. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 77

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
    23. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
    24. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
    25. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 104

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
    26. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
    27. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
    28. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
    29. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
    30. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 56

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
    31. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 61

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
    32. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 51

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
    33. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
    34. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 60

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
    35. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
    36. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
    37. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 45

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
    38. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 58

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:3 ValidationControl:Pathogenic
    39. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 49

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:2 ValidationControl:Pathogenic
    40. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    41. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
    42. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
    43. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
    44. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
    45. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    46. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
    47. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    48. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    49. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
    50. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
    51. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
    52. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
    53. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
    54. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
    55. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
    56. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
    57. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
    58. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
    59. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
    60. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
    61. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
    62. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
    63. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
    64. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
    65. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
    66. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
    67. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
    68. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
    69. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:3 ValidationControl:Pathogenic
    70. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:2 ValidationControl:Pathogenic
    71. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    72. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
    73. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
    74. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
    75. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
    76. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    77. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
    78. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    Visit annotations in context

    Tags

    Annotators

    URL

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