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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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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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4 c.2380G>C - p.A794P 0.994 38.15 0.9645 Thompson et al., 2013 DNA SEQ MSH6_05201
4 c.2380G>T - p.A794S 0.823 23.39 0.8118 Thompson et al., 2013 DNA SEQ MSH6_05202
4 c.2381C>A - p.A794D 0.994 43.15 0.9729 Thompson et al., 2013 DNA SEQ MSH6_05203
4 c.2381C>G - p.A794G 0.989 22.29 0.8869 Thompson et al., 2013 DNA SEQ MSH6_05204
4 c.2381C>T - p.A794V 0.695 35.49 0.8656 Thompson et al., 2013 DNA SEQ MSH6_05205
4 c.2383A>C - p.I795L 0.056 4.39 0.0037 Thompson et al., 2013 DNA SEQ MSH6_05206
4 c.2383A>G - p.I795V 0.001 3.36 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05207
4 c.2383A>T - p.I795L 0.056 4.39 0.0037 Thompson et al., 2013 DNA SEQ MSH6_05208
4 c.2384T>A - p.I795K 0.664 28.87 0.7794 Thompson et al., 2013 DNA SEQ MSH6_05209
4 c.2384T>C - p.I795T 0.366 10.49 0.0907 Thompson et al., 2013 DNA SEQ MSH6_05210
4 c.2384T>G - p.I795R 0.812 35.40 0.9134 Thompson et al., 2013 DNA SEQ MSH6_05211
4 c.2385A>G - p.I795M 0.134 8.91 0.0250 Thompson et al., 2013 DNA SEQ MSH6_05212
4 c.2386G>A - p.E796K 0.411 6.06 0.0336 Thompson et al., 2013 DNA SEQ MSH6_05213
4 c.2386G>C - p.E796Q 0.636 3.76 0.0298 Thompson et al., 2013 DNA SEQ MSH6_05214
4 c.2387A>C - p.E796A 0.498 5.71 0.0421 Thompson et al., 2013 DNA SEQ MSH6_05215
4 c.2387A>G - p.E796G 0.411 6.66 0.0413 Thompson et al., 2013 DNA SEQ MSH6_05216
4 c.2387A>T - p.E796V 0.377 13.15 0.1486 Thompson et al., 2013 DNA SEQ MSH6_05217
4 c.2388A>C - p.E796D 0.284 3.77 0.0068 Thompson et al., 2013 DNA SEQ MSH6_05218
4 c.2388A>T - p.E796D 0.284 3.77 0.0068 Thompson et al., 2013 DNA SEQ MSH6_05219
4 c.2389G>A - p.D797N 0.298 13.97 0.1251 Thompson et al., 2013 DNA SEQ MSH6_05220
4 c.2389G>C - p.D797H 0.900 20.32 0.8131 Thompson et al., 2013 DNA SEQ MSH6_05221
4 c.2389G>T - p.D797Y 0.109 21.06 0.1397 Thompson et al., 2013 DNA SEQ MSH6_05222
4 c.2390A>C - p.D797A 0.263 29.51 0.4022 Thompson et al., 2013 DNA SEQ MSH6_05223
4 c.2390A>G - p.D797G 0.201 20.85 0.1902 Thompson et al., 2013 DNA SEQ MSH6_05224
4 c.2390A>T - p.D797V 0.526 22.25 0.5208 Thompson et al., 2013 DNA SEQ MSH6_05225
4 c.2391C>A - p.D797E 0.070 23.98 0.1558 Thompson et al., 2013 DNA SEQ MSH6_05226
4 c.2391C>G - p.D797E 0.070 23.98 0.1558 Thompson et al., 2013 DNA SEQ MSH6_05227
4 c.2392C>A - p.L798I 0.817 5.23 0.1230 Thompson et al., 2013 DNA SEQ MSH6_05228
4 c.2392C>G - p.L798V 0.823 13.94 0.5712 Thompson et al., 2013 DNA SEQ MSH6_05229
4 c.2392C>T - p.L798F 0.823 9.43 0.3543 Thompson et al., 2013 DNA SEQ MSH6_05230
4 c.2393T>A - p.L798H 0.999 21.22 0.8798 Thompson et al., 2013 DNA SEQ MSH6_05231
4 c.2393T>C - p.L798P 0.996 35.65 0.9591 Thompson et al., 2013 DNA SEQ MSH6_05232
4 c.2393T>G - p.L798R 0.996 35.01 0.9575 Thompson et al., 2013 DNA SEQ MSH6_05233
4 c.2395A>C - p.M799L 0.006 3.00 0.0013 Thompson et al., 2013 DNA SEQ MSH6_05234
4 c.2395A>G - p.M799V 0.006 17.48 0.0642 Thompson et al., 2013 DNA SEQ MSH6_05235
4 c.2395A>T - p.M799L 0.006 3.00 0.0013 Thompson et al., 2013 DNA SEQ MSH6_05236
4 c.2396T>A - p.M799K 0.034 11.45 0.0287 Thompson et al., 2013 DNA SEQ MSH6_05237
4 c.2396T>C - p.M799T 0.036 13.95 0.0446 Thompson et al., 2013 DNA SEQ MSH6_05238
4 c.2396T>G - p.M799R 0.050 11.98 0.0339 Thompson et al., 2013 DNA SEQ MSH6_05239
4 c.2397G>A - p.M799I 0.019 11.09 0.0252 Thompson et al., 2013 DNA SEQ MSH6_05240
4 c.2397G>C - p.M799I 0.019 11.09 0.0252 Thompson et al., 2013 DNA SEQ MSH6_05241
4 c.2397G>T - p.M799I 0.019 11.09 0.0252 Thompson et al., 2013 DNA SEQ MSH6_05242
4 c.2398G>A - p.V800I 0.013 4.77 0.0037 Thompson et al., 2013 DNA SEQ MSH6_05243
4 c.2398G>C - p.V800L 0.002 4.82 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05244
4 c.2398G>T - p.V800F 0.021 5.70 0.0057 Thompson et al., 2013 DNA SEQ MSH6_05245
4 c.2399T>A - p.V800D 0.000 6.19 0.0063 Thompson et al., 2013 DNA SEQ MSH6_05246
4 c.2399T>C - p.V800A 0.000 2.23 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05247
4 c.2399T>G - p.V800G 0.000 2.84 0.0011 Thompson et al., 2013 DNA SEQ MSH6_05248
4 c.2401G>A - p.V801M 0.030 4.44 0.0034 Thompson et al., 2013 DNA SEQ MSH6_05249
4 c.2401G>C - p.V801L 0.003 3.77 0.0021 Thompson et al., 2013 DNA SEQ MSH6_05250
4 c.2401G>T - p.V801L 0.003 3.77 0.0021 Thompson et al., 2013 DNA SEQ MSH6_05251
4 c.2402T>A - p.V801E 0.010 23.78 0.1230 Thompson et al., 2013 DNA SEQ MSH6_05252
4 c.2402T>C - p.V801A 0.018 4.62 0.0035 Thompson et al., 2013 DNA SEQ MSH6_05253
4 c.2402T>G - p.V801G 0.006 4.35 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05254
4 c.2404C>A - p.P802T 0.026 5.49 0.0054 Thompson et al., 2013 DNA SEQ MSH6_05255
4 c.2404C>G - p.P802A 0.119 5.97 0.0096 Thompson et al., 2013 DNA SEQ MSH6_05256
4 c.2404C>T - p.P802S 0.051 4.67 0.0041 Thompson et al., 2013 DNA SEQ MSH6_05257
4 c.2405C>A - p.P802H 0.219 5.17 0.0106 Thompson et al., 2013 DNA SEQ MSH6_05258
4 c.2405C>G - p.P802R 0.138 5.80 0.0097 Thompson et al., 2013 DNA SEQ MSH6_05259
4 c.2405C>T - p.P802L 0.051 9.06 0.0183 Thompson et al., 2013 DNA SEQ MSH6_05260
4 c.2407G>A - p.D803N 0.012 2.33 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05261
4 c.2407G>C - p.D803H 0.037 5.45 0.0055 Thompson et al., 2013 DNA SEQ MSH6_05262
4 c.2407G>T - p.D803Y 0.005 9.00 0.0149 Thompson et al., 2013 DNA SEQ MSH6_05263
4 c.2408A>C - p.D803A 0.007 4.76 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05264
4 c.2408A>G - p.D803G 0.004 6.46 0.0070 Thompson et al., 2013 DNA SEQ MSH6_05265
4 c.2408A>T - p.D803V 0.004 7.64 0.0103 Thompson et al., 2013 DNA SEQ MSH6_05266
4 c.2409C>A - p.D803E 0.002 4.59 0.0032 Thompson et al., 2013 DNA SEQ MSH6_05267
4 c.2409C>G - p.D803E 0.002 4.59 0.0032 Thompson et al., 2013 DNA SEQ MSH6_05268
4 c.2410A>C - p.K804Q 0.044 2.28 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05269
4 c.2410A>G - p.K804E 0.025 8.81 0.0155 Thompson et al., 2013 DNA SEQ MSH6_05270
4 c.2411A>C - p.K804T 0.015 6.57 0.0077 Thompson et al., 2013 DNA SEQ MSH6_05271
4 c.2411A>G - p.K804R 0.106 2.77 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05272
4 c.2411A>T - p.K804I 0.008 1.72 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05273
4 c.2412A>C - p.K804N 0.106 5.34 0.0071 Thompson et al., 2013 DNA SEQ MSH6_05274
4 c.2412A>T - p.K804N 0.106 5.34 0.0071 Thompson et al., 2013 DNA SEQ MSH6_05275
4 c.2413A>C - p.I805L 0.001 5.15 0.0042 Thompson et al., 2013 DNA SEQ MSH6_05276
4 c.2413A>G - p.I805V 0.000 1.58 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05277
4 c.2413A>T - p.I805F 0.004 5.52 0.0049 Thompson et al., 2013 DNA SEQ MSH6_05278
4 c.2414T>A - p.I805N 0.056 13.22 0.0431 Thompson et al., 2013 DNA SEQ MSH6_05279
4 c.2414T>C - p.I805T 0.001 3.65 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05280
4 c.2414T>G - p.I805S 0.004 4.15 0.0026 Thompson et al., 2013 DNA SEQ MSH6_05281
4 c.2415C>G - p.I805M 0.004 7.14 0.0088 Thompson et al., 2013 DNA SEQ MSH6_05282
4 c.2416T>A - p.S806T 0.003 3.41 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05283
4 c.2416T>C - p.S806P 0.011 8.05 0.0119 Thompson et al., 2013 DNA SEQ MSH6_05284
4 c.2416T>G - p.S806A 0.004 4.17 0.0026 Thompson et al., 2013 DNA SEQ MSH6_05285
4 c.2417C>A - p.S806Y 0.022 6.63 0.0081 Thompson et al., 2013 DNA SEQ MSH6_05286
4 c.2417C>G - p.S806C 0.332 2.53 0.0034 Thompson et al., 2013 DNA SEQ MSH6_05287
4 c.2417C>T - p.S806F 0.037 5.29 0.0052 Thompson et al., 2013 DNA SEQ MSH6_05288
4 c.2419G>A - p.E807K 0.003 4.72 0.0035 Thompson et al., 2013 DNA SEQ MSH6_05289
4 c.2419G>C - p.E807Q 0.012 3.28 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05290
4 c.2420A>C - p.E807A 0.021 11.38 0.0269 Thompson et al., 2013 DNA SEQ MSH6_05291
4 c.2420A>G - p.E807G 0.025 8.50 0.0143 Thompson et al., 2013 DNA SEQ MSH6_05292
4 c.2420A>T - p.E807V 0.007 16.09 0.0540 Thompson et al., 2013 DNA SEQ MSH6_05293
4 c.2421A>C - p.E807D 0.004 2.21 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05294
4 c.2421A>T - p.E807D 0.004 2.21 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05295
4 c.2422G>A - p.V808I 0.020 3.73 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05296
4 c.2422G>C - p.V808L 0.020 7.80 0.0115 Thompson et al., 2013 DNA SEQ MSH6_05297
4 c.2422G>T - p.V808F 0.020 9.65 0.0185 Thompson et al., 2013 DNA SEQ MSH6_05298
4 c.2423T>A - p.V808D 0.789 35.83 0.9076 Thompson et al., 2013 DNA SEQ MSH6_05299
4 c.2423T>C - p.V808A 0.048 12.11 0.0344 Thompson et al., 2013 DNA SEQ MSH6_05300
5201 - 5300
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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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