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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 MSH6_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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8 c.3740C>A - p.T1247N 1.000 20.18 0.8677 Thompson et al., 2013 DNA SEQ MSH6_08201
8 c.3740C>G - p.T1247S 0.994 11.33 0.6329 Thompson et al., 2013 DNA SEQ MSH6_08202
8 c.3740C>T - p.T1247I 0.998 33.48 0.9535 Thompson et al., 2013 DNA SEQ MSH6_08203
8 c.3742C>A - p.H1248N 1.000 17.77 0.8309 Thompson et al., 2013 DNA SEQ MSH6_08204
8 c.3742C>G - p.H1248D 1.000 36.64 0.9621 Thompson et al., 2013 DNA SEQ MSH6_08205
8 c.3742C>T - p.H1248Y 1.000 18.27 0.8396 Thompson et al., 2013 DNA SEQ MSH6_08206
8 c.3743A>C - p.H1248P 1.000 43.50 0.9740 Thompson et al., 2013 DNA SEQ MSH6_08207
8 c.3743A>G - p.H1248R 1.000 31.55 0.9476 Thompson et al., 2013 DNA SEQ MSH6_08208
8 c.3743A>T - p.H1248L 1.000 25.24 0.9159 Thompson et al., 2013 DNA SEQ MSH6_08209
8 c.3744C>A - p.H1248Q 1.000 14.29 0.7497 Thompson et al., 2013 DNA SEQ MSH6_08210
8 c.3744C>G - p.H1248Q 1.000 14.29 0.7497 Thompson et al., 2013 DNA SEQ MSH6_08211
8 c.3745T>A - p.Y1249N 0.999 17.86 0.8319 Thompson et al., 2013 DNA SEQ MSH6_08212
8 c.3745T>C - p.Y1249H 0.999 16.52 0.8057 Thompson et al., 2013 DNA SEQ MSH6_08213
8 c.3745T>G - p.Y1249D 0.999 35.81 0.9600 Thompson et al., 2013 DNA SEQ MSH6_08214
8 c.3746A>C - p.Y1249S 0.991 18.59 0.8397 Thompson et al., 2013 DNA SEQ MSH6_08215
8 c.3746A>G - p.Y1249C 1.000 23.02 0.8984 Thompson et al., 2013 DNA SEQ MSH6_08216
8 c.3746A>T - p.Y1249F 0.959 22.82 0.8792 Thompson et al., 2013 DNA SEQ MSH6_08217
8 c.3748C>A - p.H1250N 0.720 17.77 0.5985 Thompson et al., 2013 DNA SEQ MSH6_08218
8 c.3748C>G - p.H1250D 0.953 36.64 0.9541 Thompson et al., 2013 DNA SEQ MSH6_08219
8 c.3748C>T - p.H1250Y 0.728 18.27 0.6216 Thompson et al., 2013 DNA SEQ MSH6_08220
8 c.3749A>C - p.H1250P 0.497 43.50 0.8148 Thompson et al., 2013 DNA SEQ MSH6_08221
8 c.3749A>G - p.H1250R 0.720 31.55 0.8458 Thompson et al., 2013 DNA SEQ MSH6_08222
8 c.3749A>T - p.H1250L 0.819 25.24 0.8344 Thompson et al., 2013 DNA SEQ MSH6_08223
8 c.3750T>A - p.H1250Q 0.594 14.29 0.3470 Thompson et al., 2013 DNA SEQ MSH6_08224
8 c.3750T>G - p.H1250Q 0.594 14.29 0.3470 Thompson et al., 2013 DNA SEQ MSH6_08225
8 c.3751T>A - p.S1251T 0.108 3.66 0.0030 Thompson et al., 2013 DNA SEQ MSH6_08226
8 c.3751T>C - p.S1251P 0.422 31.03 0.5975 Thompson et al., 2013 DNA SEQ MSH6_08227
8 c.3751T>G - p.S1251A 0.381 24.46 0.4208 Thompson et al., 2013 DNA SEQ MSH6_08228
8 c.3752C>T - p.S1251L 0.294 31.79 0.4762 Thompson et al., 2013 DNA SEQ MSH6_08229
8 c.3754T>A - p.L1252I 0.972 15.46 0.7607 Thompson et al., 2013 DNA SEQ MSH6_08230
8 c.3754T>G - p.L1252V 0.932 25.80 0.8955 Thompson et al., 2013 DNA SEQ MSH6_08231
8 c.3755T>C - p.L1252S 0.999 22.76 0.8956 Thompson et al., 2013 DNA SEQ MSH6_08232
8 c.3756A>C - p.L1252F 0.998 12.59 0.6902 Thompson et al., 2013 DNA SEQ MSH6_08233
8 c.3756A>T - p.L1252F 0.998 12.59 0.6902 Thompson et al., 2013 DNA SEQ MSH6_08234
8 c.3757G>A - p.V1253I 0.294 11.96 0.0899 Thompson et al., 2013 DNA SEQ MSH6_08235
8 c.3757G>C - p.V1253L 0.294 20.81 0.2579 Thompson et al., 2013 DNA SEQ MSH6_08236
8 c.3757G>T - p.V1253L 0.294 20.81 0.2579 Thompson et al., 2013 DNA SEQ MSH6_08237
8 c.3758T>A - p.V1253E 0.935 32.45 0.9360 Thompson et al., 2013 DNA SEQ MSH6_08238
8 c.3758T>C - p.V1253A 0.162 27.75 0.2757 Thompson et al., 2013 DNA SEQ MSH6_08239
8 c.3758T>G - p.V1253G 0.192 23.22 0.2239 Thompson et al., 2013 DNA SEQ MSH6_08240
8 c.3760G>A - p.E1254K 0.302 19.98 0.2469 Thompson et al., 2013 DNA SEQ MSH6_08241
8 c.3760G>C - p.E1254Q 0.520 13.20 0.2446 Thompson et al., 2013 DNA SEQ MSH6_08242
8 c.3761A>C - p.E1254A 0.381 24.45 0.4205 Thompson et al., 2013 DNA SEQ MSH6_08243
8 c.3761A>G - p.E1254G 0.422 28.23 0.5450 Thompson et al., 2013 DNA SEQ MSH6_08244
8 c.3761A>T - p.E1254V 0.175 31.34 0.3465 Thompson et al., 2013 DNA SEQ MSH6_08245
8 c.3762A>C - p.E1254D 0.115 13.31 0.0555 Thompson et al., 2013 DNA SEQ MSH6_08246
8 c.3762A>T - p.E1254D 0.115 13.31 0.0555 Thompson et al., 2013 DNA SEQ MSH6_08247
8 c.3763G>A - p.D1255N 0.326 13.61 0.1318 Thompson et al., 2013 DNA SEQ MSH6_08248
8 c.3763G>C - p.D1255H 0.428 18.13 0.3102 Thompson et al., 2013 DNA SEQ MSH6_08249
8 c.3763G>T - p.D1255Y 0.199 13.82 0.0839 Thompson et al., 2013 DNA SEQ MSH6_08250
8 c.3764A>C - p.D1255A 0.417 22.55 0.4132 Thompson et al., 2013 DNA SEQ MSH6_08251
8 c.3764A>G - p.D1255G 0.326 18.00 0.2227 Thompson et al., 2013 DNA SEQ MSH6_08252
8 c.3764A>T - p.D1255V 0.140 25.65 0.2247 Thompson et al., 2013 DNA SEQ MSH6_08253
8 c.3765T>A - p.D1255E 0.049 2.72 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08254
8 c.3765T>G - p.D1255E 0.049 2.72 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08255
8 c.3766T>A - p.Y1256N 0.412 7.47 0.0531 Thompson et al., 2013 DNA SEQ MSH6_08256
8 c.3766T>C - p.Y1256H 0.018 4.76 0.0038 Thompson et al., 2013 DNA SEQ MSH6_08257
8 c.3766T>G - p.Y1256D 0.139 11.04 0.0408 Thompson et al., 2013 DNA SEQ MSH6_08258
8 c.3767A>C - p.Y1256S 0.084 6.90 0.0115 Thompson et al., 2013 DNA SEQ MSH6_08259
8 c.3767A>G - p.Y1256C 0.699 6.75 0.1315 Thompson et al., 2013 DNA SEQ MSH6_08260
8 c.3767A>T - p.Y1256F 0.002 1.24 0.0002 Thompson et al., 2013 DNA SEQ MSH6_08261
8 c.3769T>A - p.S1257T 0.014 3.44 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08262
8 c.3769T>C - p.S1257P 0.643 7.91 0.1460 Thompson et al., 2013 DNA SEQ MSH6_08263
8 c.3769T>G - p.S1257A 0.048 3.48 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08264
8 c.3770C>A - p.S1257Y 0.665 8.32 0.1740 Thompson et al., 2013 DNA SEQ MSH6_08265
8 c.3770C>G - p.S1257C 0.856 2.43 0.0283 Thompson et al., 2013 DNA SEQ MSH6_08266
8 c.3770C>T - p.S1257F 0.219 8.16 0.0293 Thompson et al., 2013 DNA SEQ MSH6_08267
8 c.3772C>A - p.Q1258K 0.000 4.68 0.0033 Thompson et al., 2013 DNA SEQ MSH6_08268
8 c.3772C>G - p.Q1258E 0.002 6.13 0.0062 Thompson et al., 2013 DNA SEQ MSH6_08269
8 c.3773A>C - p.Q1258P 0.013 9.07 0.0157 Thompson et al., 2013 DNA SEQ MSH6_08270
8 c.3773A>G - p.Q1258R 0.002 6.42 0.0069 Thompson et al., 2013 DNA SEQ MSH6_08271
8 c.3773A>T - p.Q1258L 0.001 4.39 0.0029 Thompson et al., 2013 DNA SEQ MSH6_08272
8 c.3774A>C - p.Q1258H 0.000 1.68 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08273
8 c.3774A>T - p.Q1258H 0.000 1.68 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08274
8 c.3775A>C - p.N1259H 0.004 5.03 0.0040 Thompson et al., 2013 DNA SEQ MSH6_08275
8 c.3775A>G - p.N1259D 0.001 2.30 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08276
8 c.3775A>T - p.N1259Y 0.004 7.42 0.0096 Thompson et al., 2013 DNA SEQ MSH6_08277
8 c.3776A>C - p.N1259T 0.022 3.03 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08278
8 c.3776A>G - p.N1259S 0.004 2.65 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08279
8 c.3776A>T - p.N1259I 0.018 10.20 0.0208 Thompson et al., 2013 DNA SEQ MSH6_08280
8 c.3777T>A - p.N1259K 0.022 9.46 0.0179 Thompson et al., 2013 DNA SEQ MSH6_08281
8 c.3777T>G - p.N1259K 0.022 9.46 0.0179 Thompson et al., 2013 DNA SEQ MSH6_08282
8 c.3778G>A - p.V1260I 0.029 2.84 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08283
8 c.3778G>C - p.V1260L 0.002 3.05 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08284
8 c.3778G>T - p.V1260F 0.081 3.64 0.0027 Thompson et al., 2013 DNA SEQ MSH6_08285
8 c.3779T>A - p.V1260D 0.001 5.45 0.0047 Thompson et al., 2013 DNA SEQ MSH6_08286
8 c.3779T>C - p.V1260A 0.002 2.98 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08287
8 c.3779T>G - p.V1260G 0.001 4.17 0.0026 Thompson et al., 2013 DNA SEQ MSH6_08288
8 c.3781G>A - p.A1261T 0.022 4.86 0.0040 Thompson et al., 2013 DNA SEQ MSH6_08289
8 c.3781G>C - p.A1261P 0.092 6.99 0.0122 Thompson et al., 2013 DNA SEQ MSH6_08290
8 c.3781G>T - p.A1261S 0.002 2.79 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08291
8 c.3782C>A - p.A1261D 0.022 7.68 0.0112 Thompson et al., 2013 DNA SEQ MSH6_08292
8 c.3782C>G - p.A1261G 0.022 3.12 0.0015 Thompson et al., 2013 DNA SEQ MSH6_08293
8 c.3782C>T - p.A1261V 0.054 6.03 0.0075 Thompson et al., 2013 DNA SEQ MSH6_08294
8 c.3784G>A - p.V1262M 0.962 18.98 0.8291 Thompson et al., 2013 DNA SEQ MSH6_08295
8 c.3784G>C - p.V1262L 0.670 14.82 0.4438 Thompson et al., 2013 DNA SEQ MSH6_08296
8 c.3784G>T - p.V1262L 0.670 14.82 0.4438 Thompson et al., 2013 DNA SEQ MSH6_08297
8 c.3785T>A - p.V1262E 0.992 29.91 0.9393 Thompson et al., 2013 DNA SEQ MSH6_08298
8 c.3785T>C - p.V1262A 0.840 22.23 0.8051 Thompson et al., 2013 DNA SEQ MSH6_08299
8 c.3785T>G - p.V1262G 0.990 15.16 0.7665 Thompson et al., 2013 DNA SEQ MSH6_08300
8201 - 8300
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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: [ MSH6_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. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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