- Mar 2021
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www.cell.com www.cell.com
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.1
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 0.1
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)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 86.7
AssayResultAssertion: Normal
ReplicateCount: 28
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)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.7
AssayResultAssertion: Abnormal
ReplicateCount: 17
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)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 115.6
AssayResultAssertion: Normal
ReplicateCount: 19
StandardErrorMean: 24.7
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)
Tags
- Variant:15
- ClinVarID:67824
- CAID:CA017513
- Variant:5
- Variant:7
- CAID:CA016523
- ClinVarID:67861
- CAID:CA016384
- CAID:CA352149766
- Variant:36
- CAID:CA016995
- Variant:3
- Variant:28
- CAID:CA017871
- ClinVarID:67758
- Variant:26
- CAID:CA019148
- Variant:22
- CAID:CA014336
- ClinVarID:48295
- CAID:CA352141945
- Variant:9
- ClinVarID:67736
- ClinVarID:463345
- ClinVarID:68047
- ClinVarID:242192
- CAID:CA015938
- ClinVarID:229230
- CAID:CA057036
- ClinVarID:67742
- CAID:CA019140
- ClinVarID:67752
- Variant:78
- CAID:CA019045
- CAID:CA015974
- Variant:1
- Variant:21
- ClinVarID:67723
- Variant:43
- CAID:CA016490
- ClinVarID:67720
- CAID:CA016002
- CAID:CA352149916
- Variant:12
- Variant:30
- CAID:CA016076
- Variant:35
- CAID:CA352143498
- Variant:13
- ClinVarID:67852
- ClinVarID:9377
- CAID:CA019709
- CAID:CA016182
- ClinVarID:67727
- ClinVarID:201506
- ClinVarID:67747
- Variant:32
- Variant:23
- Variant:18
- CAID:CA016482
- ClinVarID:68049
- ClinVarID:9396
- Variant:37
- ValidationControl:Benign
- Variant:39
- Variant:74
- CAID:CA015925
- CAID:CA014324
- Variant:81
- ClinVarID:67737
- ClinVarID:68045
- FuncAssay:1
- CAID:CA064275
- CAID:CA017888
- CAID:CA352139743
- Variant:45
- Variant:40
- CAID:CA019856
- Variant:38
- Variant:44
- CAID:CA016206
- Variant:82
- CAID:CA017472
- CAID:CA014429
- ClinVarID:67877
- Variant:14
- CAID:CA016420
- Variant:58
- ClinVarID:68031
- CAID:CA018735
- Variant:4
- ClinVarID:67732
- Variant:80
- Variant:16
- CAID:CA016059
- Variant:29
- Variant:20
- ClinVarID:67971
- Variant:49
- CAID:CA059817
- Variant:41
- CAID:CA017557
- CAID:CA019844
- Variant:48
- ClinVarID:67829
- CAID:CA016274
- ClinVarID:9399
- CAID:CA016228
- CAID:CA060381
- CAID:CA014455
- Variant:83
- CAID:CA016475
- ClinVarID:67939
- ClinVarID:68055
- Variant:73
- ClinVarID:67807
- CAID:CA019690
- Variant:2
- Variant:33
- Variant:65
- CAID:CA017679
- ClinVarID:67719
- Variant:42
- ClinVarID:67756
- Variant:11
- CAID:CA016221
- Variant:72
- CAID:CA017399
- Variant:79
- CAID:CA014257
- ClinVarID:67635
- Variant:24
- CAID:CA017494
- CAID:CA352144555
- Variant:63
- Variant:34
- CGType:FunctionalAssayResult
- Variant:17
- ClinVarID:67757
- ClinVarID:628262
- Variant:6
- Variant:75
- CAID:CA064027
- CAID:CA016428
- ClinVarID:67810
- Variant:25
- CG:BulkAnnotation
- ClinVarID:67751
- ClinVarID:67820
- ClinVarID:9370
- CAID:CA352143353
- ClinVarID:67634
- Variant:27
- ClinVarID:67721
- CAID:CA017796
- CAID:CA018087
- CAID:CA019926
- CAID:CA058963
- ClinVarID:67787
- ClinVarID:48294
- ClinVarID:67734
- ClinVarID:67640
- ClinVarID:67642
- CAID:CA019833
- Variant:10
- Variant:31
- Variant:8
- ClinVarID:67633
- Variant:19
- CAID:CA014305
- ClinVarID:67830
- CAID:CA017341
- ClinVarID:67631
- ClinVarID:67986
- CAID:CA017547
Annotators
URL
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- Feb 2021
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jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 111
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
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Supplemental material
AssayResult: 69, 73
AssayResultAssertion: Normal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
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Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 80, 99
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 94
AssayResultAssertion: Normal
Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
-
Supplemental material
AssayResult: 101, 106
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 89, 90
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 88
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 79
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 90
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 82
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 118
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 62
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 56, 52
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 61
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 101
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 102
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 81
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 102
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 105
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 85
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 88
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 125
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 115
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 75
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 88
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 79
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 91
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 102
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 80
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 90
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 85
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 90
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 116
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 103
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 89
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 122
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 97
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 79
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 94
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 89
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 92
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 74
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 82
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 117
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 112
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 87
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 92
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.
-
Supplemental material
AssayResult: 5.5, 5.7
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
-
Supplemental material
AssayResult: 20.5
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 2.6, 4.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
-
Supplemental material
AssayResult: 4, 5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.8, 6.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.3
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.1
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.2
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 2.9
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.9
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.7
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 7.1, 6.0
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.2
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 16
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 16.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 19.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 9.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 9.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.2
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 19.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.2
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 18.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 9.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.9
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 13
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 13
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 22.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.6
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 16.5
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
Tags
- Variant:15
- CGType:FunctionalAssayResult
- Variant:17
- Variant:7
- Variant:5
- Variant:46
- Variant:6
- CAID:CA1139768486
- Variant:4
- FuncAssay:4
- CAID:CA000123
- CAID:CA000049
- CAID:CA645588451
- CAID:CA397832246
- ClinVarID:141114
- CAID:CA000071
- ClinVarID:177825
- Variant:16
- CAID:CA000251
- ClinVarID:12364
- ClinVarID:246343
- Variant:20
- Variant:36
- ClinVarID:142320
- CAID:CA000259
- CAID:CA1139768485
- ClinVarID:127821
- ValidationControl:Pathogenic
- CAID:CA10584593
- ClinVarID:127812
- CAID:CA000454
- Variant:25
- Variant:23
- FuncAssay:3
- Variant:26
- Variant:41
- CAID:CA000272
- Variant:48
- CAID:CA000457
- Variant:18
- Variant:35
- CAID:CA000013
- CAID:CA16603061
- ClinVarID:185120
- CAID:CA497717451
- ClinVarID:376644
- ValidationControl:Benign
- CAID:CA000144
- ClinVarID:127816
- CAID:CA000102
- CAID:CA397842793
- CAID:CA397832401
- CAID:CA000343
- ValidationControl:WildType
- Variant:42
- Variant:10
- CAID:CA1139768484
- Variant:45
- ClinVarID:12374
- Variant:8
- ClinVarID:481148
- ClinVarID:127824
- ClinVarID:35555
- Variant:1
- AssayControl:Normal
- ClinVarID:127808
- ClinVarID:12379
- CAID:CA000225
- Variant:12
Annotators
URL
-