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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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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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1 c.98G>A - p.R33H 0.049 4.25 0.0033 Thompson et al., 2013 DNA SEQ MSH6_00201
1 c.98G>C - p.R33P 0.007 1.52 0.0003 Thompson et al., 2013 DNA SEQ MSH6_00202
1 c.98G>T - p.R33L 0.004 4.12 0.0026 Thompson et al., 2013 DNA SEQ MSH6_00203
1 c.100G>A - p.A34T 0.010 12.25 0.0302 Thompson et al., 2013 DNA SEQ MSH6_00204
1 c.100G>C - p.A34P 0.038 14.54 0.0492 Thompson et al., 2013 DNA SEQ MSH6_00205
1 c.100G>T - p.A34S 0.001 4.10 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00206
1 c.101C>A - p.A34D 0.001 6.94 0.0082 Thompson et al., 2013 DNA SEQ MSH6_00207
1 c.101C>G - p.A34G 0.015 2.38 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00208
1 c.101C>T - p.A34V 0.015 20.39 0.0918 Thompson et al., 2013 DNA SEQ MSH6_00209
1 c.103G>A - p.A35T 0.004 2.78 0.0010 Thompson et al., 2013 DNA SEQ MSH6_00210
1 c.103G>C - p.A35P 0.014 7.34 0.0098 Thompson et al., 2013 DNA SEQ MSH6_00211
1 c.103G>T - p.A35S 0.000 1.47 0.0002 Thompson et al., 2013 DNA SEQ MSH6_00212
1 c.104C>A - p.A35D 0.010 4.57 0.0033 Thompson et al., 2013 DNA SEQ MSH6_00213
1 c.104C>G - p.A35G 0.006 2.45 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00214
1 c.104C>T - p.A35V 0.000 4.16 0.0026 Thompson et al., 2013 DNA SEQ MSH6_00215
1 c.106G>A - p.A36T 0.059 7.97 0.0142 Thompson et al., 2013 DNA SEQ MSH6_00216
1 c.106G>C - p.A36P 0.002 8.86 0.0142 Thompson et al., 2013 DNA SEQ MSH6_00217
1 c.106G>T - p.A36S 0.034 2.93 0.0013 Thompson et al., 2013 DNA SEQ MSH6_00218
1 c.107C>A - p.A36D 0.207 5.08 0.0097 Thompson et al., 2013 DNA SEQ MSH6_00219
1 c.107C>G - p.A36G 0.056 1.55 0.0003 Thompson et al., 2013 DNA SEQ MSH6_00220
1 c.107C>T - p.A36V 0.095 12.33 0.0434 Thompson et al., 2013 DNA SEQ MSH6_00221
1 c.109G>A - p.A37T 0.024 - 0.0029 Thompson et al., 2013 DNA SEQ MSH6_00222
1 c.109G>C - p.A37P 0.146 - 0.0081 Thompson et al., 2013 DNA SEQ MSH6_00223
1 c.109G>T - p.A37S 0.002 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00224
1 c.110C>A - p.A37D 0.059 - 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00225
1 c.110C>G - p.A37G 0.034 - 0.0032 Thompson et al., 2013 DNA SEQ MSH6_00226
1 c.110C>T - p.A37V 0.059 - 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00227
1 c.112C>A - p.P38T 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00228
1 c.112C>G - p.P38A 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00229
1 c.112C>T - p.P38S 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00230
1 c.113C>A - p.P38H 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00231
1 c.113C>G - p.P38R 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00232
1 c.113C>T - p.P38L 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00233
1 c.115G>A - p.G39R 0.640 3.47 0.0253 Thompson et al., 2013 DNA SEQ MSH6_00234
1 c.115G>C - p.G39R 0.640 3.47 0.0253 Thompson et al., 2013 DNA SEQ MSH6_00235
1 c.115G>T - p.G39W 0.945 4.40 0.1405 Thompson et al., 2013 DNA SEQ MSH6_00236
1 c.116G>A - p.G39E 0.438 4.29 0.0175 Thompson et al., 2013 DNA SEQ MSH6_00237
1 c.116G>C - p.G39A 0.447 4.69 0.0221 Thompson et al., 2013 DNA SEQ MSH6_00238
1 c.116G>T - p.G39V 0.750 7.85 0.2096 Thompson et al., 2013 DNA SEQ MSH6_00239
1 c.118G>A - p.A40T 0.167 4.62 0.0066 Thompson et al., 2013 DNA SEQ MSH6_00240
1 c.118G>C - p.A40P 0.383 4.61 0.0163 Thompson et al., 2013 DNA SEQ MSH6_00241
1 c.118G>T - p.A40S 0.044 2.25 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00242
1 c.119C>A - p.A40D 0.108 3.84 0.0034 Thompson et al., 2013 DNA SEQ MSH6_00243
1 c.119C>G - p.A40G 0.002 1.76 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00244
1 c.119C>T - p.A40V 0.253 6.56 0.0208 Thompson et al., 2013 DNA SEQ MSH6_00245
1 c.121T>A - p.S41T 0.024 2.83 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00246
1 c.121T>C - p.S41P 0.060 8.36 0.0159 Thompson et al., 2013 DNA SEQ MSH6_00247
1 c.121T>G - p.S41A 0.024 5.45 0.0052 Thompson et al., 2013 DNA SEQ MSH6_00248
1 c.122C>A - p.S41Y 0.163 4.02 0.0047 Thompson et al., 2013 DNA SEQ MSH6_00249
1 c.122C>G - p.S41C 0.175 3.29 0.0032 Thompson et al., 2013 DNA SEQ MSH6_00250
1 c.122C>T - p.S41F 0.105 3.30 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00251
1 c.124C>A - p.P42T 0.002 2.13 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00252
1 c.124C>G - p.P42A 0.000 3.26 0.0015 Thompson et al., 2013 DNA SEQ MSH6_00253
1 c.124C>T - p.P42S 0.002 3.04 0.0013 Thompson et al., 2013 DNA SEQ MSH6_00254
1 c.125C>A - p.P42H 0.010 2.90 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00255
1 c.125C>G - p.P42R 0.000 6.37 0.0067 Thompson et al., 2013 DNA SEQ MSH6_00256
1 c.125C>T - p.P42L 0.002 5.04 0.0040 Thompson et al., 2013 DNA SEQ MSH6_00257
1 c.127T>A - p.S43T 0.056 2.47 0.0010 Thompson et al., 2013 DNA SEQ MSH6_00258
1 c.127T>C - p.S43P 0.207 5.56 0.0118 Thompson et al., 2013 DNA SEQ MSH6_00259
1 c.127T>G - p.S43A 0.003 6.94 0.0082 Thompson et al., 2013 DNA SEQ MSH6_00260
1 c.128C>A - p.S43Y 0.396 6.43 0.0360 Thompson et al., 2013 DNA SEQ MSH6_00261
1 c.128C>G - p.S43C 0.463 7.32 0.0624 Thompson et al., 2013 DNA SEQ MSH6_00262
1 c.128C>T - p.S43F 0.396 10.00 0.0923 Thompson et al., 2013 DNA SEQ MSH6_00263
1 c.130C>A - p.P44T 0.004 3.03 0.0013 Thompson et al., 2013 DNA SEQ MSH6_00264
1 c.130C>G - p.P44A 0.000 2.81 0.0011 Thompson et al., 2013 DNA SEQ MSH6_00265
1 c.130C>T - p.P44S 0.000 3.26 0.0015 Thompson et al., 2013 DNA SEQ MSH6_00266
1 c.131C>A - p.P44Q 0.009 2.66 0.0010 Thompson et al., 2013 DNA SEQ MSH6_00267
1 c.131C>G - p.P44R 0.000 8.25 0.0120 Thompson et al., 2013 DNA SEQ MSH6_00268
1 c.131C>T - p.P44L 0.005 3.55 0.0018 Thompson et al., 2013 DNA SEQ MSH6_00269
1 c.133G>A - p.G45S 0.000 3.92 0.0022 Thompson et al., 2013 DNA SEQ MSH6_00270
1 c.133G>C - p.G45R 0.075 2.60 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00271
1 c.133G>T - p.G45C 0.128 12.03 0.0471 Thompson et al., 2013 DNA SEQ MSH6_00272
1 c.134G>A - p.G45D 0.029 9.65 0.0193 Thompson et al., 2013 DNA SEQ MSH6_00273
1 c.134G>C - p.G45A 0.017 7.83 0.0115 Thompson et al., 2013 DNA SEQ MSH6_00274
1 c.134G>T - p.G45V 0.042 18.26 0.0811 Thompson et al., 2013 DNA SEQ MSH6_00275
1 c.136G>A - p.G46R 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00276
1 c.136G>C - p.G46R 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00277
1 c.136G>T - p.G46W 0.174 - 0.0103 Thompson et al., 2013 DNA SEQ MSH6_00278
1 c.137G>A - p.G46E 0.009 - 0.0026 Thompson et al., 2013 DNA SEQ MSH6_00279
1 c.137G>C - p.G46A 0.009 - 0.0026 Thompson et al., 2013 DNA SEQ MSH6_00280
1 c.137G>T - p.G46V 0.022 - 0.0029 Thompson et al., 2013 DNA SEQ MSH6_00281
1 c.139G>A - p.D47N 0.253 1.75 0.0011 Thompson et al., 2013 DNA SEQ MSH6_00282
1 c.139G>C - p.D47H 0.528 2.98 0.0113 Thompson et al., 2013 DNA SEQ MSH6_00283
1 c.139G>T - p.D47Y 0.528 3.59 0.0171 Thompson et al., 2013 DNA SEQ MSH6_00284
1 c.140A>C - p.D47A 0.115 3.06 0.0021 Thompson et al., 2013 DNA SEQ MSH6_00285
1 c.140A>G - p.D47G 0.186 3.35 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00286
1 c.140A>T - p.D47V 0.268 3.44 0.0052 Thompson et al., 2013 DNA SEQ MSH6_00287
1 c.141T>A - p.D47E 0.071 1.78 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00288
1 c.141T>G - p.D47E 0.071 1.78 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00289
1 c.142G>A - p.A48T 0.023 4.60 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00290
1 c.142G>C - p.A48P 0.033 6.03 0.0068 Thompson et al., 2013 DNA SEQ MSH6_00291
1 c.142G>T - p.A48S 0.013 2.08 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00292
1 c.143C>A - p.A48E 0.001 4.66 0.0033 Thompson et al., 2013 DNA SEQ MSH6_00293
1 c.143C>G - p.A48G 0.013 1.88 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00294
1 c.143C>T - p.A48V 0.023 6.31 0.0072 Thompson et al., 2013 DNA SEQ MSH6_00295
1 c.145G>A - p.A49T 0.076 7.48 0.0133 Thompson et al., 2013 DNA SEQ MSH6_00296
1 c.145G>C - p.A49P 0.268 8.98 0.0441 Thompson et al., 2013 DNA SEQ MSH6_00297
1 c.145G>T - p.A49S 0.044 3.55 0.0022 Thompson et al., 2013 DNA SEQ MSH6_00298
1 c.146C>A - p.A49D 0.044 10.61 0.0253 Thompson et al., 2013 DNA SEQ MSH6_00299
1 c.146C>G - p.A49G 0.071 2.97 0.0016 Thompson et al., 2013 DNA SEQ MSH6_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: [ 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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