Batch queries can be done using pipe "|" as a separator between search terms. Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.
LOVD - Variant listings for MSH2_priors

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6175 entries
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Custom PP2.1 score Hide Custom PP2.1 score column Descending
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MAPP score Hide MAPP score column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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16 c.2767G>A - p.V923I 0.007 4.35 0.0029 Thompson et al., 2013 DNA SEQ MSH2_06101
16 c.2767G>C - p.V923L 0.062 12.71 0.0405 Thompson et al., 2013 DNA SEQ MSH2_06103
16 c.2767G>T - p.V923L 0.062 12.71 0.0405 Thompson et al., 2013 DNA SEQ MSH2_06102
16 c.2768T>A - p.V923E 0.319 29.29 0.4564 Thompson et al., 2013 DNA SEQ MSH2_06106
16 c.2768T>C - p.V923A 0.021 20.40 0.0940 Thompson et al., 2013 DNA SEQ MSH2_06105
16 c.2768T>G - p.V923G 0.204 14.65 0.0965 Thompson et al., 2013 DNA SEQ MSH2_06104
16 c.2770A>C - p.N924H 0.012 3.60 0.0019 Thompson et al., 2013 DNA SEQ MSH2_06107
16 c.2770A>G - p.N924D 0.097 8.21 0.0179 Thompson et al., 2013 DNA SEQ MSH2_06109
16 c.2770A>T - p.N924Y 0.285 6.43 0.0227 Thompson et al., 2013 DNA SEQ MSH2_06108
16 c.2771A>C - p.N924T 0.068 5.17 0.0056 Thompson et al., 2013 DNA SEQ MSH2_06112
16 c.2771A>G - p.N924S 0.007 3.14 0.0014 Thompson et al., 2013 DNA SEQ MSH2_06110
16 c.2771A>T - p.N924I 0.039 5.38 0.0054 Thompson et al., 2013 DNA SEQ MSH2_06111
16 c.2772T>A - p.N924K 0.004 6.33 0.0067 Thompson et al., 2013 DNA SEQ MSH2_06114
16 c.2772T>G - p.N924K 0.004 6.33 0.0067 Thompson et al., 2013 DNA SEQ MSH2_06113
16 c.2773G>A - p.E925K 0.007 3.87 0.0022 Thompson et al., 2013 DNA SEQ MSH2_06115
16 c.2773G>C - p.E925Q 0.039 2.78 0.0012 Thompson et al., 2013 DNA SEQ MSH2_06116
16 c.2774A>C - p.E925A 0.023 4.14 0.0028 Thompson et al., 2013 DNA SEQ MSH2_06117
16 c.2774A>G - p.E925G 0.004 2.48 0.0008 Thompson et al., 2013 DNA SEQ MSH2_06118
16 c.2774A>T - p.E925V 0.097 13.74 0.0553 Thompson et al., 2013 DNA SEQ MSH2_06119
16 c.2775A>C - p.E925D 0.002 3.59 0.0019 Thompson et al., 2013 DNA SEQ MSH2_06120
16 c.2775A>T - p.E925D 0.002 3.59 0.0019 Thompson et al., 2013 DNA SEQ MSH2_06121
16 c.2776A>C - p.I926L 0.002 4.07 0.0025 Thompson et al., 2013 DNA SEQ MSH2_06124
16 c.2776A>G - p.I926V 0.001 4.65 0.0033 Thompson et al., 2013 DNA SEQ MSH2_06122
16 c.2776A>T - p.I926F 0.012 7.19 0.0093 Thompson et al., 2013 DNA SEQ MSH2_06123
16 c.2777T>A - p.I926N 0.398 16.46 0.2411 Thompson et al., 2013 DNA SEQ MSH2_06127
16 c.2777T>C - p.I926T 0.012 15.07 0.0478 Thompson et al., 2013 DNA SEQ MSH2_06125
16 c.2777T>G - p.I926S 0.137 14.18 0.0693 Thompson et al., 2013 DNA SEQ MSH2_06126
16 c.2778C>G - p.I926M 0.212 10.70 0.0513 Thompson et al., 2013 DNA SEQ MSH2_06128
16 c.2779A>C - p.I927L 0.000 4.07 0.0024 Thompson et al., 2013 DNA SEQ MSH2_06130
16 c.2779A>G - p.I927V 0.001 3.85 0.0022 Thompson et al., 2013 DNA SEQ MSH2_06131
16 c.2779A>T - p.I927F 0.001 7.29 0.0091 Thompson et al., 2013 DNA SEQ MSH2_06129
16 c.2780T>A - p.I927N 0.218 16.31 0.1263 Thompson et al., 2013 DNA SEQ MSH2_06133
16 c.2780T>C - p.I927T 0.023 14.81 0.0482 Thompson et al., 2013 DNA SEQ MSH2_06132
16 c.2780T>G - p.I927S 0.059 13.76 0.0476 Thompson et al., 2013 DNA SEQ MSH2_06134
16 c.2781T>G - p.I927M 0.102 10.71 0.0328 Thompson et al., 2013 DNA SEQ MSH2_06135
16 c.2782T>A - p.S928T 0.002 5.24 0.0044 Thompson et al., 2013 DNA SEQ MSH2_06137
16 c.2782T>C - p.S928P 0.005 8.82 0.0142 Thompson et al., 2013 DNA SEQ MSH2_06138
16 c.2782T>G - p.S928A 0.003 3.63 0.0019 Thompson et al., 2013 DNA SEQ MSH2_06136
16 c.2783C>T - p.S928L 0.005 2.84 0.0011 Thompson et al., 2013 DNA SEQ MSH2_06139
16 c.2785C>G - p.R929G 0.008 5.09 0.0042 Thompson et al., 2013 DNA SEQ MSH2_06140
16 c.2786G>A - p.R929Q 0.056 3.49 0.0022 Thompson et al., 2013 DNA SEQ MSH2_06142
16 c.2786G>C - p.R929P 0.485 14.68 0.2620 Thompson et al., 2013 DNA SEQ MSH2_06141
16 c.2786G>T - p.R929L 0.265 6.96 0.0249 Thompson et al., 2013 DNA SEQ MSH2_06143
16 c.2788A>C - p.I930L 0.000 2.65 0.0009 Thompson et al., 2013 DNA SEQ MSH2_06144
16 c.2788A>G - p.I930V 0.000 2.31 0.0007 Thompson et al., 2013 DNA SEQ MSH2_06146
16 c.2788A>T - p.I930L 0.000 2.65 0.0009 Thompson et al., 2013 DNA SEQ MSH2_06145
16 c.2789T>A - p.I930K 0.031 26.38 0.1626 Thompson et al., 2013 DNA SEQ MSH2_06148
16 c.2789T>C - p.I930T 0.000 2.72 0.0010 Thompson et al., 2013 DNA SEQ MSH2_06149
16 c.2789T>G - p.I930R 0.124 29.65 0.2734 Thompson et al., 2013 DNA SEQ MSH2_06147
16 c.2790A>G - p.I930M 0.033 4.10 0.0029 Thompson et al., 2013 DNA SEQ MSH2_06150
16 c.2791A>C - p.K931Q 0.503 9.67 0.1294 Thompson et al., 2013 DNA SEQ MSH2_06151
16 c.2791A>G - p.K931E 0.048 2.29 0.0008 Thompson et al., 2013 DNA SEQ MSH2_06152
16 c.2792A>C - p.K931T 0.755 12.37 0.4319 Thompson et al., 2013 DNA SEQ MSH2_06155
16 c.2792A>G - p.K931R 0.627 7.47 0.1230 Thompson et al., 2013 DNA SEQ MSH2_06153
16 c.2792A>T - p.K931I 0.877 20.50 0.8010 Thompson et al., 2013 DNA SEQ MSH2_06154
16 c.2793A>C - p.K931N 0.755 8.22 0.2312 Thompson et al., 2013 DNA SEQ MSH2_06156
16 c.2793A>T - p.K931N 0.755 8.22 0.2312 Thompson et al., 2013 DNA SEQ MSH2_06157
16 c.2794G>A - p.V932I 0.005 1.48 0.0003 Thompson et al., 2013 DNA SEQ MSH2_06159
16 c.2794G>C - p.V932L 0.005 2.40 0.0008 Thompson et al., 2013 DNA SEQ MSH2_06158
16 c.2794G>T - p.V932F 0.001 3.34 0.0016 Thompson et al., 2013 DNA SEQ MSH2_06160
16 c.2795T>A - p.V932D 0.041 32.08 0.2400 Thompson et al., 2013 DNA SEQ MSH2_06162
16 c.2795T>C - p.V932A 0.000 2.88 0.0011 Thompson et al., 2013 DNA SEQ MSH2_06163
16 c.2795T>G - p.V932G 0.009 3.46 0.0018 Thompson et al., 2013 DNA SEQ MSH2_06161
16 c.2797A>C - p.T933P 0.000 6.91 0.0081 Thompson et al., 2013 DNA SEQ MSH2_06165
16 c.2797A>G - p.T933A 0.004 4.37 0.0029 Thompson et al., 2013 DNA SEQ MSH2_06164
16 c.2797A>T - p.T933S 0.000 0.95 0.0001 Thompson et al., 2013 DNA SEQ MSH2_06166
16 c.2798C>A - p.T933N 0.006 2.88 0.0011 Thompson et al., 2013 DNA SEQ MSH2_06167
16 c.2798C>G - p.T933S 0.000 0.95 0.0001 Thompson et al., 2013 DNA SEQ MSH2_06168
16 c.2798C>T - p.T933I 0.004 4.55 0.0032 Thompson et al., 2013 DNA SEQ MSH2_06169
16 c.2800A>C - p.T934P 0.073 2.78 0.0014 Thompson et al., 2013 DNA SEQ MSH2_06172
16 c.2800A>G - p.T934A 0.016 2.41 0.0008 Thompson et al., 2013 DNA SEQ MSH2_06170
16 c.2800A>T - p.T934S 0.002 2.06 0.0005 Thompson et al., 2013 DNA SEQ MSH2_06171
16 c.2801C>A - p.T934K 0.004 26.23 0.1459 Thompson et al., 2013 DNA SEQ MSH2_06174
16 c.2801C>G - p.T934R 0.041 30.00 0.2134 Thompson et al., 2013 DNA SEQ MSH2_06175
16 c.2801C>T - p.T934M 0.161 4.53 0.0062 Thompson et al., 2013 DNA SEQ MSH2_06173
6101 - 6175
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Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.

Legend: [ MSH2_priors full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP score: output score from MAPP MAPP/PP2 Prior P: MAPP/PP2 Prior probability of pathogenicity Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. MSH2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.