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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.97C>A - p.L33M 0.997 10.29 0.5839 Thompson et al., 2013 DNA SEQ PMS2_00201
2 c.97C>G - p.L33V 0.969 8.70 0.4598 Thompson et al., 2013 DNA SEQ PMS2_00202
2 c.98T>A - p.L33Q 0.997 18.21 0.8368 Thompson et al., 2013 DNA SEQ PMS2_00204
2 c.98T>C - p.L33P 0.947 21.64 0.8598 Thompson et al., 2013 DNA SEQ PMS2_00203
2 c.98T>G - p.L33R 0.998 35.15 0.9582 Thompson et al., 2013 DNA SEQ PMS2_00205
2 c.100A>C - p.S34R 0.936 8.17 0.3907 Thompson et al., 2013 DNA SEQ PMS2_00208
2 c.100A>G - p.S34G 0.020 4.67 0.0036 Thompson et al., 2013 DNA SEQ PMS2_00207
2 c.100A>T - p.S34C 0.913 4.58 0.1351 Thompson et al., 2013 DNA SEQ PMS2_00206
2 c.101G>A - p.S34N 0.039 2.10 0.0006 Thompson et al., 2013 DNA SEQ PMS2_00210
2 c.101G>C - p.S34T 0.039 2.13 0.0007 Thompson et al., 2013 DNA SEQ PMS2_00211
2 c.101G>T - p.S34I 0.952 8.49 0.4282 Thompson et al., 2013 DNA SEQ PMS2_00209
2 c.102T>A - p.S34R 0.936 8.17 0.3907 Thompson et al., 2013 DNA SEQ PMS2_00212
2 c.102T>G - p.S34R 0.936 8.17 0.3907 Thompson et al., 2013 DNA SEQ PMS2_00213
2 c.103C>A - p.L35I 0.998 15.46 0.7803 Thompson et al., 2013 DNA SEQ PMS2_00214
2 c.103C>G - p.L35V 0.994 25.80 0.9178 Thompson et al., 2013 DNA SEQ PMS2_00215
2 c.104T>A - p.L35Q 0.999 15.01 0.7693 Thompson et al., 2013 DNA SEQ PMS2_00217
2 c.104T>C - p.L35P 1.000 36.32 0.9614 Thompson et al., 2013 DNA SEQ PMS2_00216
2 c.104T>G - p.L35R 0.999 33.02 0.9523 Thompson et al., 2013 DNA SEQ PMS2_00218
2 c.106A>C - p.S36R 0.994 34.49 0.9557 Thompson et al., 2013 DNA SEQ PMS2_00221
2 c.106A>G - p.S36G 0.037 4.05 0.0028 Thompson et al., 2013 DNA SEQ PMS2_00220
2 c.106A>T - p.S36C 0.990 4.30 0.1582 Thompson et al., 2013 DNA SEQ PMS2_00219
2 c.107G>A - p.S36N 0.578 11.45 0.2309 Thompson et al., 2013 DNA SEQ PMS2_00223
2 c.107G>C - p.S36T 0.466 5.78 0.0380 Thompson et al., 2013 DNA SEQ PMS2_00224
2 c.107G>T - p.S36I 0.993 7.08 0.3713 Thompson et al., 2013 DNA SEQ PMS2_00222
2 c.108C>A - p.S36R 0.994 34.49 0.9557 Thompson et al., 2013 DNA SEQ PMS2_00225
2 c.108C>G - p.S36R 0.994 34.49 0.9557 Thompson et al., 2013 DNA SEQ PMS2_00226
2 c.109A>C - p.T37P 1.000 43.72 0.9743 Thompson et al., 2013 DNA SEQ PMS2_00228
2 c.109A>G - p.T37A 0.996 37.99 0.9644 Thompson et al., 2013 DNA SEQ PMS2_00227
2 c.109A>T - p.T37S 0.997 11.33 0.6359 Thompson et al., 2013 DNA SEQ PMS2_00229
2 c.110C>A - p.T37N 1.000 20.18 0.8677 Thompson et al., 2013 DNA SEQ PMS2_00231
2 c.110C>G - p.T37S 0.997 11.33 0.6359 Thompson et al., 2013 DNA SEQ PMS2_00232
2 c.110C>T - p.T37I 1.000 33.48 0.9539 Thompson et al., 2013 DNA SEQ PMS2_00230
2 c.112G>A - p.A38T 0.999 33.24 0.9530 Thompson et al., 2013 DNA SEQ PMS2_00235
2 c.112G>C - p.A38P 1.000 38.15 0.9653 Thompson et al., 2013 DNA SEQ PMS2_00233
2 c.112G>T - p.A38S 0.999 23.39 0.9013 Thompson et al., 2013 DNA SEQ PMS2_00234
2 c.113C>A - p.A38E 1.000 37.64 0.9643 Thompson et al., 2013 DNA SEQ PMS2_00236
2 c.113C>G - p.A38G 0.997 22.29 0.8903 Thompson et al., 2013 DNA SEQ PMS2_00237
2 c.113C>T - p.A38V 0.999 35.49 0.9592 Thompson et al., 2013 DNA SEQ PMS2_00238
2 c.115G>A - p.V39I 0.989 2.63 0.0578 Thompson et al., 2013 DNA SEQ PMS2_00239
2 c.115G>C - p.V39L 0.989 5.48 0.2450 Thompson et al., 2013 DNA SEQ PMS2_00240
2 c.115G>T - p.V39L 0.989 5.48 0.2450 Thompson et al., 2013 DNA SEQ PMS2_00241
2 c.116T>A - p.V39E 1.000 32.86 0.9520 Thompson et al., 2013 DNA SEQ PMS2_00243
2 c.116T>C - p.V39A 0.999 7.98 0.4428 Thompson et al., 2013 DNA SEQ PMS2_00242
2 c.116T>G - p.V39G 1.000 9.13 0.5201 Thompson et al., 2013 DNA SEQ PMS2_00244
2 c.118A>C - p.K40Q 0.998 14.08 0.7417 Thompson et al., 2013 DNA SEQ PMS2_00246
2 c.118A>G - p.K40E 0.998 23.70 0.9035 Thompson et al., 2013 DNA SEQ PMS2_00245
2 c.119A>C - p.K40T 1.000 27.99 0.9323 Thompson et al., 2013 DNA SEQ PMS2_00249
2 c.119A>G - p.K40R 0.998 7.31 0.3934 Thompson et al., 2013 DNA SEQ PMS2_00248
2 c.119A>T - p.K40M 0.999 17.24 0.8204 Thompson et al., 2013 DNA SEQ PMS2_00247
2 c.120G>C - p.K40N 1.000 14.55 0.7573 Thompson et al., 2013 DNA SEQ PMS2_00250
2 c.120G>T - p.K40N 1.000 14.55 0.7573 Thompson et al., 2013 DNA SEQ PMS2_00251
2 c.121G>A - p.E41K 0.976 19.98 0.8527 Thompson et al., 2013 DNA SEQ PMS2_00252
2 c.121G>C - p.E41Q 0.997 13.20 0.7118 Thompson et al., 2013 DNA SEQ PMS2_00253
2 c.122A>C - p.E41A 0.998 24.45 0.9095 Thompson et al., 2013 DNA SEQ PMS2_00254
2 c.122A>G - p.E41G 0.999 28.23 0.9333 Thompson et al., 2013 DNA SEQ PMS2_00255
2 c.122A>T - p.E41V 0.999 31.34 0.9466 Thompson et al., 2013 DNA SEQ PMS2_00256
2 c.123G>C - p.E41D 0.986 13.31 0.7061 Thompson et al., 2013 DNA SEQ PMS2_00257
2 c.123G>T - p.E41D 0.986 13.31 0.7061 Thompson et al., 2013 DNA SEQ PMS2_00258
2 c.124T>A - p.L42I 0.976 15.46 0.7638 Thompson et al., 2013 DNA SEQ PMS2_00259
2 c.124T>G - p.L42V 0.962 25.80 0.9069 Thompson et al., 2013 DNA SEQ PMS2_00260
2 c.125T>C - p.L42S 1.000 22.76 0.8960 Thompson et al., 2013 DNA SEQ PMS2_00261
2 c.126A>C - p.L42F 0.999 12.59 0.6911 Thompson et al., 2013 DNA SEQ PMS2_00262
2 c.126A>T - p.L42F 0.999 12.59 0.6911 Thompson et al., 2013 DNA SEQ PMS2_00263
2 c.127G>A - p.V43I 0.066 2.63 0.0012 Thompson et al., 2013 DNA SEQ PMS2_00264
2 c.127G>C - p.V43L 0.038 5.64 0.0060 Thompson et al., 2013 DNA SEQ PMS2_00266
2 c.127G>T - p.V43L 0.038 5.64 0.0060 Thompson et al., 2013 DNA SEQ PMS2_00265
2 c.128T>A - p.V43E 0.985 33.42 0.9508 Thompson et al., 2013 DNA SEQ PMS2_00268
2 c.128T>C - p.V43A 0.736 10.03 0.3034 Thompson et al., 2013 DNA SEQ PMS2_00267
2 c.128T>G - p.V43G 0.994 14.26 0.7440 Thompson et al., 2013 DNA SEQ PMS2_00269
2 c.130G>A - p.E44K 0.998 19.98 0.8641 Thompson et al., 2013 DNA SEQ PMS2_00270
2 c.130G>C - p.E44Q 0.998 13.20 0.7127 Thompson et al., 2013 DNA SEQ PMS2_00271
2 c.131A>C - p.E44A 0.998 24.45 0.9095 Thompson et al., 2013 DNA SEQ PMS2_00272
2 c.131A>G - p.E44G 0.971 28.23 0.9255 Thompson et al., 2013 DNA SEQ PMS2_00273
2 c.131A>T - p.E44V 0.999 31.34 0.9466 Thompson et al., 2013 DNA SEQ PMS2_00274
2 c.132A>C - p.E44D 0.986 13.31 0.7061 Thompson et al., 2013 DNA SEQ PMS2_00275
2 c.132A>T - p.E44D 0.986 13.31 0.7061 Thompson et al., 2013 DNA SEQ PMS2_00276
2 c.133A>C - p.N45H 0.999 14.29 0.7489 Thompson et al., 2013 DNA SEQ PMS2_00278
2 c.133A>G - p.N45D 0.996 29.27 0.9375 Thompson et al., 2013 DNA SEQ PMS2_00277
2 c.133A>T - p.N45Y 1.000 20.20 0.8679 Thompson et al., 2013 DNA SEQ PMS2_00279
2 c.134A>C - p.N45T 0.998 16.73 0.8095 Thompson et al., 2013 DNA SEQ PMS2_00282
2 c.134A>G - p.N45S 0.989 13.40 0.7118 Thompson et al., 2013 DNA SEQ PMS2_00281
2 c.134A>T - p.N45I 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ PMS2_00280
2 c.135C>A - p.N45K 0.999 25.31 0.9161 Thompson et al., 2013 DNA SEQ PMS2_00283
2 c.135C>G - p.N45K 0.999 25.31 0.9161 Thompson et al., 2013 DNA SEQ PMS2_00284
2 c.136A>C - p.S46R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ PMS2_00287
2 c.136A>G - p.S46G 0.997 9.08 0.5137 Thompson et al., 2013 DNA SEQ PMS2_00286
2 c.136A>T - p.S46C 1.000 20.41 0.8706 Thompson et al., 2013 DNA SEQ PMS2_00285
2 c.137G>A - p.S46N 0.998 14.09 0.7421 Thompson et al., 2013 DNA SEQ PMS2_00289
2 c.137G>C - p.S46T 0.996 13.44 0.7193 Thompson et al., 2013 DNA SEQ PMS2_00290
2 c.137G>T - p.S46I 1.000 29.33 0.9387 Thompson et al., 2013 DNA SEQ PMS2_00288
2 c.138T>A - p.S46R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ PMS2_00291
2 c.138T>G - p.S46R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ PMS2_00292
2 c.139C>A - p.L47M 0.506 9.89 0.1367 Thompson et al., 2013 DNA SEQ PMS2_00293
2 c.139C>G - p.L47V 0.002 6.32 0.0067 Thompson et al., 2013 DNA SEQ PMS2_00294
2 c.140T>A - p.L47Q 0.719 16.79 0.5661 Thompson et al., 2013 DNA SEQ PMS2_00296
2 c.140T>C - p.L47P 0.849 20.47 0.7807 Thompson et al., 2013 DNA SEQ PMS2_00295
2 c.140T>G - p.L47R 0.809 35.10 0.9108 Thompson et al., 2013 DNA SEQ PMS2_00297
2 c.142G>A - p.D48N 0.998 13.97 0.7383 Thompson et al., 2013 DNA SEQ PMS2_00299
2 c.142G>C - p.D48H 0.999 20.32 0.8690 Thompson et al., 2013 DNA SEQ PMS2_00298
2 c.142G>T - p.D48Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ PMS2_00300
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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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