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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 PMS2_priors

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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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2 c.50C>A - p.P17H 0.849 4.21 0.0895 Thompson et al., 2013 DNA SEQ PMS2_00101
2 c.50C>G - p.P17R 0.085 6.28 0.0093 Thompson et al., 2013 DNA SEQ PMS2_00103
2 c.50C>T - p.P17L 0.501 3.97 0.0192 Thompson et al., 2013 DNA SEQ PMS2_00102
2 c.52A>C - p.I18L 0.953 10.44 0.5460 Thompson et al., 2013 DNA SEQ PMS2_00105
2 c.52A>G - p.I18V 0.953 10.65 0.5571 Thompson et al., 2013 DNA SEQ PMS2_00106
2 c.52A>T - p.I18F 0.993 10.65 0.5987 Thompson et al., 2013 DNA SEQ PMS2_00104
2 c.53T>A - p.I18N 0.994 17.95 0.8305 Thompson et al., 2013 DNA SEQ PMS2_00107
2 c.53T>C - p.I18T 0.990 19.60 0.8547 Thompson et al., 2013 DNA SEQ PMS2_00109
2 c.53T>G - p.I18S 0.993 20.83 0.8724 Thompson et al., 2013 DNA SEQ PMS2_00108
2 c.54T>G - p.I18M 0.994 15.70 0.7833 Thompson et al., 2013 DNA SEQ PMS2_00110
2 c.55G>A - p.D19N 0.995 13.97 0.7358 Thompson et al., 2013 DNA SEQ PMS2_00112
2 c.55G>C - p.D19H 0.997 20.32 0.8680 Thompson et al., 2013 DNA SEQ PMS2_00111
2 c.55G>T - p.D19Y 0.997 21.06 0.8770 Thompson et al., 2013 DNA SEQ PMS2_00113
2 c.56A>C - p.D19A 0.995 29.51 0.9383 Thompson et al., 2013 DNA SEQ PMS2_00114
2 c.56A>G - p.D19G 0.995 20.85 0.8736 Thompson et al., 2013 DNA SEQ PMS2_00115
2 c.56A>T - p.D19V 0.997 22.25 0.8899 Thompson et al., 2013 DNA SEQ PMS2_00116
2 c.57T>A - p.D19E 0.986 23.98 0.9014 Thompson et al., 2013 DNA SEQ PMS2_00117
2 c.57T>G - p.D19E 0.986 23.98 0.9014 Thompson et al., 2013 DNA SEQ PMS2_00118
2 c.58C>G - p.R20G 0.031 8.39 0.0142 Thompson et al., 2013 DNA SEQ PMS2_00119
2 c.58C>T - p.R20W 0.828 9.86 0.3828 Thompson et al., 2013 DNA SEQ PMS2_00120
2 c.59G>A - p.R20Q 0.488 5.65 0.0395 Thompson et al., 2013 DNA SEQ PMS2_00123
2 c.59G>C - p.R20P 0.691 20.42 0.6436 Thompson et al., 2013 DNA SEQ PMS2_00122
2 c.59G>T - p.R20L 0.550 10.82 0.1898 Thompson et al., 2013 DNA SEQ PMS2_00121
2 c.61A>C - p.K21Q 0.077 2.40 0.0010 Thompson et al., 2013 DNA SEQ PMS2_00125
2 c.61A>G - p.K21E 0.014 4.17 0.0027 Thompson et al., 2013 DNA SEQ PMS2_00124
2 c.62A>C - p.K21T 0.243 7.54 0.0271 Thompson et al., 2013 DNA SEQ PMS2_00128
2 c.62A>G - p.K21R 0.179 2.60 0.0019 Thompson et al., 2013 DNA SEQ PMS2_00127
2 c.62A>T - p.K21M 0.749 5.49 0.1049 Thompson et al., 2013 DNA SEQ PMS2_00126
2 c.63G>C - p.K21N 0.243 4.95 0.0106 Thompson et al., 2013 DNA SEQ PMS2_00130
2 c.63G>T - p.K21N 0.243 4.95 0.0106 Thompson et al., 2013 DNA SEQ PMS2_00129
2 c.64T>A - p.S22T 0.981 4.03 0.1350 Thompson et al., 2013 DNA SEQ PMS2_00133
2 c.64T>C - p.S22P 0.993 31.28 0.9451 Thompson et al., 2013 DNA SEQ PMS2_00132
2 c.64T>G - p.S22A 0.953 24.70 0.8947 Thompson et al., 2013 DNA SEQ PMS2_00131
2 c.65C>T - p.S22L 0.990 31.75 0.9462 Thompson et al., 2013 DNA SEQ PMS2_00134
2 c.67G>A - p.V23I 0.953 11.96 0.6208 Thompson et al., 2013 DNA SEQ PMS2_00136
2 c.67G>C - p.V23L 0.953 20.81 0.8520 Thompson et al., 2013 DNA SEQ PMS2_00137
2 c.67G>T - p.V23F 0.993 21.09 0.8756 Thompson et al., 2013 DNA SEQ PMS2_00135
2 c.68T>A - p.V23D 0.994 33.13 0.9517 Thompson et al., 2013 DNA SEQ PMS2_00139
2 c.68T>C - p.V23A 0.973 27.75 0.9233 Thompson et al., 2013 DNA SEQ PMS2_00138
2 c.68T>G - p.V23G 0.993 23.22 0.8975 Thompson et al., 2013 DNA SEQ PMS2_00140
2 c.70C>A - p.H24N 0.981 17.77 0.8192 Thompson et al., 2013 DNA SEQ PMS2_00142
2 c.70C>G - p.H24D 0.990 36.64 0.9605 Thompson et al., 2013 DNA SEQ PMS2_00141
2 c.70C>T - p.H24Y 0.990 18.27 0.8337 Thompson et al., 2013 DNA SEQ PMS2_00143
2 c.71A>C - p.H24P 0.993 43.50 0.9733 Thompson et al., 2013 DNA SEQ PMS2_00145
2 c.71A>G - p.H24R 0.990 31.55 0.9454 Thompson et al., 2013 DNA SEQ PMS2_00146
2 c.71A>T - p.H24L 0.993 25.24 0.9136 Thompson et al., 2013 DNA SEQ PMS2_00144
2 c.72T>A - p.H24Q 0.993 14.29 0.7441 Thompson et al., 2013 DNA SEQ PMS2_00147
2 c.72T>G - p.H24Q 0.993 14.29 0.7441 Thompson et al., 2013 DNA SEQ PMS2_00148
2 c.73C>A - p.Q25K 0.397 5.36 0.0242 Thompson et al., 2013 DNA SEQ PMS2_00150
2 c.73C>G - p.Q25E 0.271 12.23 0.0861 Thompson et al., 2013 DNA SEQ PMS2_00149
2 c.74A>C - p.Q25P 0.873 38.72 0.9437 Thompson et al., 2013 DNA SEQ PMS2_00152
2 c.74A>G - p.Q25R 0.078 6.55 0.0099 Thompson et al., 2013 DNA SEQ PMS2_00153
2 c.74A>T - p.Q25L 0.747 24.83 0.7814 Thompson et al., 2013 DNA SEQ PMS2_00151
2 c.75G>C - p.Q25H 0.900 11.11 0.5249 Thompson et al., 2013 DNA SEQ PMS2_00155
2 c.75G>T - p.Q25H 0.900 11.11 0.5249 Thompson et al., 2013 DNA SEQ PMS2_00154
2 c.76A>C - p.I26L 0.953 10.44 0.5460 Thompson et al., 2013 DNA SEQ PMS2_00157
2 c.76A>G - p.I26V 0.953 10.65 0.5571 Thompson et al., 2013 DNA SEQ PMS2_00158
2 c.76A>T - p.I26F 0.993 10.65 0.5987 Thompson et al., 2013 DNA SEQ PMS2_00156
2 c.77T>A - p.I26N 0.994 17.95 0.8305 Thompson et al., 2013 DNA SEQ PMS2_00159
2 c.77T>C - p.I26T 0.990 19.60 0.8547 Thompson et al., 2013 DNA SEQ PMS2_00161
2 c.77T>G - p.I26S 0.993 20.83 0.8724 Thompson et al., 2013 DNA SEQ PMS2_00160
2 c.78T>G - p.I26M 0.994 15.70 0.7833 Thompson et al., 2013 DNA SEQ PMS2_00162
2 c.79T>A - p.C27S 0.990 14.04 0.7339 Thompson et al., 2013 DNA SEQ PMS2_00165
2 c.79T>C - p.C27R 0.994 34.86 0.9567 Thompson et al., 2013 DNA SEQ PMS2_00164
2 c.79T>G - p.C27G 0.993 15.41 0.7753 Thompson et al., 2013 DNA SEQ PMS2_00163
2 c.80G>A - p.C27Y 0.994 21.23 0.8776 Thompson et al., 2013 DNA SEQ PMS2_00168
2 c.80G>C - p.C27S 0.990 14.04 0.7339 Thompson et al., 2013 DNA SEQ PMS2_00167
2 c.80G>T - p.C27F 0.994 21.32 0.8787 Thompson et al., 2013 DNA SEQ PMS2_00166
2 c.81C>G - p.C27W 0.998 32.95 0.9519 Thompson et al., 2013 DNA SEQ PMS2_00169
2 c.82T>A - p.S28T 0.981 13.44 0.7062 Thompson et al., 2013 DNA SEQ PMS2_00172
2 c.82T>C - p.S28P 0.993 39.26 0.9665 Thompson et al., 2013 DNA SEQ PMS2_00171
2 c.82T>G - p.S28A 0.953 28.89 0.9238 Thompson et al., 2013 DNA SEQ PMS2_00170
2 c.83C>A - p.S28Y 0.994 23.48 0.9002 Thompson et al., 2013 DNA SEQ PMS2_00175
2 c.83C>G - p.S28C 0.994 20.41 0.8677 Thompson et al., 2013 DNA SEQ PMS2_00173
2 c.83C>T - p.S28F 0.994 21.57 0.8815 Thompson et al., 2013 DNA SEQ PMS2_00174
2 c.85G>A - p.G29R 0.999 36.52 0.9617 Thompson et al., 2013 DNA SEQ PMS2_00176
2 c.85G>C - p.G29R 0.999 36.52 0.9617 Thompson et al., 2013 DNA SEQ PMS2_00177
2 c.85G>T - p.G29W 1.000 22.39 0.8925 Thompson et al., 2013 DNA SEQ PMS2_00178
2 c.86G>A - p.G29E 0.999 35.36 0.9589 Thompson et al., 2013 DNA SEQ PMS2_00180
2 c.86G>C - p.G29A 0.998 22.05 0.8883 Thompson et al., 2013 DNA SEQ PMS2_00179
2 c.86G>T - p.G29V 0.999 29.36 0.9386 Thompson et al., 2013 DNA SEQ PMS2_00181
2 c.88C>A - p.Q30K 0.926 27.25 0.9044 Thompson et al., 2013 DNA SEQ PMS2_00183
2 c.88C>G - p.Q30E 0.876 26.89 0.8812 Thompson et al., 2013 DNA SEQ PMS2_00182
2 c.89A>C - p.Q30P 0.681 39.94 0.8881 Thompson et al., 2013 DNA SEQ PMS2_00185
2 c.89A>G - p.Q30R 0.987 33.70 0.9521 Thompson et al., 2013 DNA SEQ PMS2_00186
2 c.89A>T - p.Q30L 0.981 19.88 0.8539 Thompson et al., 2013 DNA SEQ PMS2_00184
2 c.90G>C - p.Q30H 0.984 14.36 0.7389 Thompson et al., 2013 DNA SEQ PMS2_00188
2 c.90G>T - p.Q30H 0.984 14.36 0.7389 Thompson et al., 2013 DNA SEQ PMS2_00187
2 c.91G>A - p.V31M 0.995 24.43 0.9083 Thompson et al., 2013 DNA SEQ PMS2_00191
2 c.91G>C - p.V31L 0.922 20.81 0.8345 Thompson et al., 2013 DNA SEQ PMS2_00189
2 c.91G>T - p.V31L 0.922 20.81 0.8345 Thompson et al., 2013 DNA SEQ PMS2_00190
2 c.92T>A - p.V31E 0.994 32.45 0.9495 Thompson et al., 2013 DNA SEQ PMS2_00193
2 c.92T>C - p.V31A 0.989 27.75 0.9280 Thompson et al., 2013 DNA SEQ PMS2_00192
2 c.92T>G - p.V31G 0.997 23.22 0.8990 Thompson et al., 2013 DNA SEQ PMS2_00194
2 c.94G>A - p.V32I 0.962 6.02 0.2637 Thompson et al., 2013 DNA SEQ PMS2_00195
2 c.94G>C - p.V32L 0.962 14.61 0.7282 Thompson et al., 2013 DNA SEQ PMS2_00197
2 c.94G>T - p.V32L 0.962 14.61 0.7282 Thompson et al., 2013 DNA SEQ PMS2_00196
2 c.95T>A - p.V32E 0.997 29.83 0.9402 Thompson et al., 2013 DNA SEQ PMS2_00199
2 c.95T>C - p.V32A 0.995 22.04 0.8869 Thompson et al., 2013 DNA SEQ PMS2_00198
2 c.95T>G - p.V32G 0.999 15.09 0.7715 Thompson et al., 2013 DNA SEQ PMS2_00200
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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: [ PMS2_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. PMS2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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