A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2807T>C p.(Leu936Ser)
1,591 Matching Annotations
- Mar 2021
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1238C>A p.(Thr413Lys)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3307G>C p.(Val1103Leu)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2792T>C p.(Leu931Pro)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.101G>A p.(Arg34His)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3492G>T p.(Trp1164Cys)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1676A>G p.(Gln559Arg)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3249G>C p.(Glu1083Asp)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1421G>A p.(Ser474Asn)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3296C>G p.(Thr1099Arg)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1189A>T p.(Thr397Ser)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3179G>C p.(Cys1060Ser)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1732A>G p.(Ser578Gly)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3433G>C p.(Gly1145Arg)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2148T>A p.(Asn716Lys)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1010T>C p.(Leu337Ser)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1846G>C p.(Asp616His)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2597G>T p.(Gly866Val)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.925A>G p.(Ile309Val)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.26T>A p.(Leu9His)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2993G>A p.(Gly998Glu)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2873A>C p.(Gln958Pro)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3056T>C p.(Val1019Ala)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2590C>T p.(Pro864Ser)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.629C>T p.(Pro210Leu)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3428T>C p.(Leu1143Pro)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.232G>A p.(Val78Ile)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2200A>T p.(Thr734Ser)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.23C>T p.(Pro8Leu)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1250C>A p.(Ser417Tyr)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1145G>T p.(Ser382Ile)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3449T>G p.(Leu1150Arg)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3307G>A p.(Val1103Met)
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3306C>G p.(Ser1102Arg)
Tags
- Variant:15
- Variant:2
- ClinVarID:126582
- Variant:72
- CAID:CA168538
- ClinVarID:126613
- ClinVarID:126732
- CAID:CA164933
- ClinVarID:241550
- Variant:90
- ClinVarID:126741
- ClinVarID:126780
- Variant:25
- ClinVarID:128134
- CAID:CA168345
- ClinVarID:126640
- Variant:9
- CAID:CA151242
- Variant:8
- ClinVarID:241560
- CAID:CA299799
- ClinVarID:126647
- Variant:62
- ClinVarID:141974
- CAID:CA288398
- Variant:61
- ClinVarID:126731
- CAID:CA161327
- CAID:CA294249
- CAID:CA333921
- ClinVarID:126742
- Variant:47
- ClinVarID:126699
- CAID:CA269610
- CAID:CA10583357
- Variant:73
- CGType:Variant
- Variant:48
- ClinVarID:141936
- CAID:CA161330
- Variant:35
- Variant:60
- ClinVarID:184941
- ClinVarID:142079
- CAID:CA269483
- CAID:CA288475
- CAID:CA288441
- CG:BulkAnnotation
- Variant:18
- CAID:CA288451
- ClinVarID:245657
- CAID:CA7963665
- Variant:46
- ClinVarID:142048
- Variant:71
- CAID:CA288435
- ClinVarID:126709
- CAID:CA161333
- ClinVarID:142504
- Variant:30
- ClinVarID:126669
- Variant:14
- CAID:CA10580016
- Variant:19
- ClinVarID:185069
- CAID:CA269619
- ClinVarID:229738
- CAID:CA190537
- Variant:31
- Variant:29
- Variant:84
- ClinVarID:126761
- ClinVarID:126726
- CAID:CA166841
- Variant:54
- ClinVarID:232317
- ClinVarID:126591
- Variant:13
- CAID:CA269558
- ClinVarID:141256
- ClinVarID:126595
- ClinVarID:233127
- CAID:CA190922
- Variant:20
- CAID:CA151212
- Variant:28
- ClinVarID:126652
- CAID:CA10579945
- Variant:63
- ClinVarID:126674
- Variant:3
- CAID:CA7963617
- Variant:57
- Variant:24
- CAID:CA166991
- CAID:CA167348
- CAID:CA288472
- CAID:CA10583351
- Variant:39
- Variant:33
- CAID:CA151233
- ClinVarID:188058
- CAID:CA269622
- Variant:74
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
SUPPLEMENTARY DATA
AssayResult: 34
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 68
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 90
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 46
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 23.6
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 82
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 53
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 41
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 95
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 90
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 83
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 77
AssayResultAssertion: Indeterminate
PValue: < 0.01
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 81
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 38
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 5
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 36
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 85
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 58
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: -34
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -11
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -4
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -14
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -56
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -6
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -25
AssayResultAssertion: Abnormal
PValue: < 0.01
-
SUPPLEMENTARY DATA
AssayResult: -31
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -16
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -10
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -21
AssayResultAssertion: Indeterminate
PValue: < 0.01
-
SUPPLEMENTARY DATA
AssayResult: -20
AssayResultAssertion: Indeterminate
PValue: < 0.05
-
SUPPLEMENTARY DATA
AssayResult: 8
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -29
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -98
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -36
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 3
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -32
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 106
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 108.6
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 64.45
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 84.49
AssayResultAssertion: Indeterminate
PValue: 0.0058
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.43
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 88.66
AssayResultAssertion: Not reported
PValue: 0.727
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 96.63
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.59
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 94.36
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 98.94
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 87.19
AssayResultAssertion: Not reported
PValue: 0.341
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 98.25
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 57.61
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.2
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 95.47
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.77
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 103.5
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 100.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 102.6
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 77.32
AssayResultAssertion: Indeterminate
PValue: 0.0002
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 82.22
AssayResultAssertion: Indeterminate
PValue: 0.004
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 96.97
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 102.1
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 101.6
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.4
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 107.5
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 100.5
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 103.3
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 108.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 106.8
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 94.01
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.68
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.03
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 93.06
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.49
AssayResultAssertion: Not reported
PValue: 0.3376
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 76.21
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 85.76
AssayResultAssertion: Indeterminate
PValue: 0.0445
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 47.64
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.51
AssayResultAssertion: Not reported
PValue: 0.2166
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.46
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 91.53
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 82.06
AssayResultAssertion: Indeterminate
PValue: 0.0058
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 76.45
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.74
AssayResultAssertion: Not reported
PValue: 0.1836
Comment: Exact values reported in Table S3.
-
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.3539T>C p.(Ile1180Thr)
-
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.3428T>C p.(Leu1143Pro)
-
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.3418T>G p.(Trp1140Gly)
-
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.3356T>C p.(Leu1119Pro)
-
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.3342G>C p.(Gln1114His)
-
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.3314T>C p.(Val1105Ala)
-
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.3306C>G p.(Ser1102Arg)
-
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.3278T>C p.(Ile1093Thr)
-
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.3251C>T p.(Ser1084Leu)
-
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.3223A>G p.(Ser1075Gly)
-
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.3128G>C p.(Gly1043Ala)
-
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.3122A>C p.(Lys1041Thr)
-
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.3089C>T p.(Thr1030Ile)
-
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.3073G>A p.(Ala1025Thr)
-
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.3054G>C p.(Glu1018Asp)
-
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.3049G>A p.(Ala1017Thr)
-
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.2993G>A p.(Gly998Glu)
-
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.2896A>G p.(Ile966Val)
-
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.2865T>A p.(Ser955Arg)
-
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.2841G>C p.(Leu947Phe)
-
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.2840T>C p.(Leu947Ser)
-
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.2816T>G p.(Leu939Trp)
-
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.2794G>A p.(Val932Met)
-
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.2590C>T p.(Pro864Ser)
-
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.956C>A p.(Ser319Tyr)
-
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.949A>C p.(Thr317Pro)
-
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.629C>T p.(Pro210Leu)
-
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.620C>G p.(Pro207Arg)
-
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.505C>A p.(Leu169Ile)
-
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.371C>T p.(Thr124Ile)
-
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.344G>T p.(Gly115Val)
-
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.280G>A p.(Glu94Lys)
-
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.242A>G p.(Lys81Arg)
-
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.232G>A p.(Val78Ile)
-
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.226A>G p.(Ile76Val)
-
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.194C>T p.(Pro65Leu)
-
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.136C>T p.(His46Tyr)
-
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.110G>A p.(Arg37His)
-
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)
-
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.94C>G p.(Leu32Val)
-
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.90G>T p.(Lys30Asn)
-
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.83A>G p.(Tyr28Cys)
-
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.53A>G p.(Lys18Arg)
-
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.23C>T p.(Pro8Leu)
-
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.11C>T p.(Pro4Leu)
Tags
- CAID:CA288386
- ClinVarID:126716
- Variant:15
- Variant:2
- CAID:CA196624
- Variant:4
- CAID:CA334766
- ClinVarID:487020
- Variant:12
- Variant:44
- CAID:CA277851
- Variant:32
- ClinVarID:126755
- Variant:1
- FuncAssay:3
- Variant:38
- CAID:CA395140053
- ClinVarID:126741
- Variant:25
- ClinVarID:422560
- CAID:CA279500159
- CAID:CA279500276
- Variant:41
- CAID:CA331796
- ClinVarID:657328
- CAID:CA269585
- CAID:CA7963465
- CAID:CA269663
- ClinVarID:232977
- CAID:CA7963442
- Variant:5
- Variant:7
- FuncAssay:1
- Variant:9
- CAID:CA151242
- Variant:8
- ClinVarID:126590
- CAID:CA299799
- ClinVarID:126774
- CAID:CA151236
- ClinVarID:128150
- CAID:CA299750
- ClinVarID:126731
- CAID:CA269610
- Variant:23
- ClinVarID:126699
- ClinVarID:126727
- ClinVarID:126747
- CGType:FunctionalAssayResult
- CAID:CA269654
- ClinVarID:182774
- CAID:CA161315
- CAID:CA294183
- Variant:36
- Variant:34
- ClinVarID:187058
- CAID:CA161318
- ClinVarID:217917
- CAID:CA288504
- CAID:CA269666
- ClinVarID:126738
- Variant:35
- ClinVarID:188387
- ClinVarID:582957
- CGType:Variant
- CAID:CA10579934
- CAID:CA269625
- ClinVarID:220168
- Variant:37
- FuncAssay:2
- CAID:CA288441
- CG:BulkAnnotation
- Variant:18
- Variant:16
- ClinVarID:126779
- Variant:10
- Variant:6
- ClinVarID:126708
- Variant:43
- CAID:CA269636
- ValidationControl:Pathogenic
- CAID:CA161333
- ClinVarID:128124
- Variant:42
- Variant:26
- CAID:CA395139263
- ClinVarID:126593
- ClinVarID:126693
- Variant:11
- Variant:30
- CAID:CA279502031
- ClinVarID:126758
- ClinVarID:126669
- Variant:14
- Variant:40
- ClinVarID:126781
- Variant:21
- Variant:19
- CAID:CA193686
- CAID:CA288392
- ClinVarID:657666
- CAID:CA269619
- Variant:31
- Variant:27
- CAID:CA331799
- ValidationControl:Benign
- ClinVarID:126743
- ClinVarID:126782
- Variant:29
- CAID:CA239946
- Variant:22
- ClinVarID:126761
- Variant:13
- CAID:CA168501
- ClinVarID:126760
- CAID:CA161321
- CAID:CA7963418
- Variant:20
- ClinVarID:183828
- CAID:CA395144524
- Variant:28
- ClinVarID:126652
- CAID:CA348162
- ClinVarID:241553
- CAID:CA395139432
- Variant:45
- CAID:CA395139336
- CAID:CA151239
- Variant:3
- CAID:CA186642
- ClinVarID:126683
- Variant:24
- Variant:17
- Variant:39
- Variant:33
- CAID:CA151233
- ClinVarID:126647
- ClinVarID:126682
Annotators
URL
-
-
www.nature.com www.nature.com
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 19.52 foci/cell
AssayResultAssertion: Indeterminate (described as "minor effect")
Range: 0 - 70
Comment: Exact values reported in "Source Data" file
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 15.80 foci/cell
AssayResultAssertion: Indeterminate (described as "minor effect")
Range: 0 - 74
Comment: Exact values reported in "Source Data" file
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 13.96 foci/cell
AssayResultAssertion: Abnormal
Range: 0 - 69
Comment: Exact values reported in "Source Data" file
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 3.19 foci/cell
AssayResultAssertion: abnormal
Range: 0 - 32
Comment: Exact values reported in "Source Data" file
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 1.24 foci/cell
AssayResultAssertion: Abnormal
Range: 0 - 25
Comment: Exact values reported in "Source Data" file
-
Source Data
AssayResult: 128.59
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 14.72
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 84.05
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 16.48
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 97.73
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.41
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 19.53
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 8.56
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 119.03
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.12
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 37.28
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.28
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 111.51
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.63
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 80.44
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 27.29
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.53
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.2
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 12.81
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 112.08
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 4.1
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.4
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.88
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 100.97
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.27
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 20.08
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.84
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 89.72
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.95
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 93.33
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 83.16
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.2
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 26.03
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.42
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 24.27
AssayResultAssertion: Abnormal
ReplicateCount: Not reported
StandardErrorMean: Not reported
Comment: Exact values reported in “Supplementary Data 1” file; result for this variant not reported in “Source Data” file.
-
Source Data
AssayResult: 96.22
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 16.7
Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.
-
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.
-
Source Data
AssayResult: 52.23
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.33
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as I1037R.
-
Source Data
AssayResult: 74.36
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.89
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.27
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.3
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.22
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 8.29
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 21.7
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.42
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 55.4
AssayResultAssertion: Not reported
ReplicateCount: 4
StandardErrorMean: 13.29
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 17.5
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 7.75
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.7
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 12.82
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 94.47
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.99
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 13.87
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.32
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 93.44
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 2.24
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 9.67
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.31
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 109.07
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.27
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 98.64
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.5
Comment: Exact values reported in “Source Data” file.
Tags
- CAID:CA288386
- Variant:2
- Variant:4
- ClinVarID:182786
- CAID:CA164468
- ClinVarID:186840
- CAID:CA16620118
- CAID:CA299784
- CAID:CA395141224
- ClinVarID:1243
- Variant:66
- ClinVarID:461007
- CAID:CA395137656
- FuncAssay:3
- Variant:38
- Variant:65
- CAID:CA494163316
- ClinVarID:1246
- ClinVarID:126749
- Variant:41
- ClinVarID:530038
- ClinVarID:126594
- ClinVarID:657328
- CAID:CA7963465
- Variant:5
- Variant:7
- CAID:CA163622
- CAID:CA151242
- CAID:CA923726356
- CAID:CA195974
- ClinVarID:126590
- Variant:62
- ClinVarID:126774
- CAID:CA658658444
- CAID:CA395144928
- ClinVarID:126699
- Variant:64
- ClinVarID:126747
- CGType:FunctionalAssayResult
- Variant:34
- CAID:CA161315
- Variant:48
- CAID:CA269654
- ClinVarID:126670
- CAID:CA196017
- CAID:CA269551
- CAID:CA151222
- CAID:CA151250
- Variant:60
- ClinVarID:142079
- CAID:CA269625
- Variant:37
- FuncAssay:2
- CAID:CA395139401
- CG:BulkAnnotation
- Variant:46
- ClinVarID:1245
- CAID:CA10580054
- Variant:69
- Variant:43
- ValidationControl:Pathogenic
- ClinVarID:484219
- Variant:42
- Variant:68
- CAID:CA279530867
- Variant:67
- CAID:CA161333
- Variant:30
- ClinVarID:186824
- ClinVarID:126758
- CAID:CA279502031
- Variant:40
- CAID:CA395121845
- Variant:21
- CAID:CA395139673
- Variant:70
- CAID:CA395125757
- ValidationControl:Benign
- ClinVarID:182773
- ClinVarID:126761
- Variant:49
- CAID:CA395142764
- Variant:54
- Variant:13
- CAID:CA299747
- ClinVarID:922719
- Variant:20
- Variant:28
- ClinVarID:567901
- ClinVarID:420826
- FuncAssay:4
- Variant:63
- CAID:CA151239
- Variant:57
- ClinVarID:126683
- Variant:24
- CAID:CA167348
- ClinVarID:230588
- Variant:61
- CAID:CA251717
Annotators
URL
-