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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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5 c.3284G>A - p.R1095H 0.980 14.41 0.7371 Thompson et al., 2013 DNA SEQ MSH6_07201
5 c.3284G>C - p.R1095P 0.835 40.70 0.9410 Thompson et al., 2013 DNA SEQ MSH6_07202
5 c.3284G>T - p.R1095L 0.767 19.03 0.6802 Thompson et al., 2013 DNA SEQ MSH6_07203
5 c.3286C>A - p.H1096N 0.976 17.77 0.8160 Thompson et al., 2013 DNA SEQ MSH6_07204
5 c.3286C>G - p.H1096D 0.998 36.64 0.9618 Thompson et al., 2013 DNA SEQ MSH6_07205
5 c.3286C>T - p.H1096Y 0.890 18.27 0.7661 Thompson et al., 2013 DNA SEQ MSH6_07206
5 c.3287A>C - p.H1096P 0.998 43.50 0.9738 Thompson et al., 2013 DNA SEQ MSH6_07207
5 c.3287A>G - p.H1096R 0.998 31.55 0.9472 Thompson et al., 2013 DNA SEQ MSH6_07208
5 c.3287A>T - p.H1096L 0.998 25.24 0.9153 Thompson et al., 2013 DNA SEQ MSH6_07209
5 c.3288T>A - p.H1096Q 0.998 14.29 0.7481 Thompson et al., 2013 DNA SEQ MSH6_07210
5 c.3288T>G - p.H1096Q 0.998 14.29 0.7481 Thompson et al., 2013 DNA SEQ MSH6_07211
5 c.3289C>A - p.P1097T 1.000 17.77 0.8309 Thompson et al., 2013 DNA SEQ MSH6_07212
5 c.3289C>G - p.P1097A 1.000 20.00 0.8653 Thompson et al., 2013 DNA SEQ MSH6_07213
5 c.3289C>T - p.P1097S 1.000 17.50 0.8260 Thompson et al., 2013 DNA SEQ MSH6_07214
5 c.3290C>A - p.P1097H 1.000 19.31 0.8558 Thompson et al., 2013 DNA SEQ MSH6_07215
5 c.3290C>G - p.P1097R 1.000 41.48 0.9711 Thompson et al., 2013 DNA SEQ MSH6_07216
5 c.3290C>T - p.P1097L 1.000 26.92 0.9265 Thompson et al., 2013 DNA SEQ MSH6_07217
5 c.3292T>A - p.C1098S 0.302 14.04 0.1283 Thompson et al., 2013 DNA SEQ MSH6_07218
5 c.3292T>C - p.C1098R 0.952 34.86 0.9487 Thompson et al., 2013 DNA SEQ MSH6_07219
5 c.3292T>G - p.C1098G 0.896 15.41 0.6954 Thompson et al., 2013 DNA SEQ MSH6_07220
5 c.3293G>A - p.C1098Y 0.302 21.23 0.2734 Thompson et al., 2013 DNA SEQ MSH6_07221
5 c.3293G>C - p.C1098S 0.302 14.04 0.1283 Thompson et al., 2013 DNA SEQ MSH6_07222
5 c.3293G>T - p.C1098F 0.656 21.32 0.6318 Thompson et al., 2013 DNA SEQ MSH6_07223
5 c.3294C>G - p.C1098W 0.963 32.95 0.9446 Thompson et al., 2013 DNA SEQ MSH6_07224
5 c.3295A>C - p.I1099L 0.007 10.20 0.0199 Thompson et al., 2013 DNA SEQ MSH6_07225
5 c.3295A>G - p.I1099V 0.001 5.03 0.0040 Thompson et al., 2013 DNA SEQ MSH6_07226
5 c.3295A>T - p.I1099F 0.037 8.73 0.0159 Thompson et al., 2013 DNA SEQ MSH6_07227
5 c.3296T>A - p.I1099N 0.519 15.27 0.3097 Thompson et al., 2013 DNA SEQ MSH6_07228
5 c.3296T>C - p.I1099T 0.038 13.93 0.0448 Thompson et al., 2013 DNA SEQ MSH6_07229
5 c.3296T>G - p.I1099S 0.206 13.24 0.0788 Thompson et al., 2013 DNA SEQ MSH6_07230
5 c.3297T>G - p.I1099M 0.038 14.78 0.0510 Thompson et al., 2013 DNA SEQ MSH6_07231
5 c.3298A>C - p.T1100P 0.143 9.49 0.0298 Thompson et al., 2013 DNA SEQ MSH6_07232
5 c.3298A>G - p.T1100A 0.069 5.56 0.0066 Thompson et al., 2013 DNA SEQ MSH6_07233
5 c.3298A>T - p.T1100S 0.029 2.01 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07234
5 c.3299C>A - p.T1100K 0.219 34.00 0.4348 Thompson et al., 2013 DNA SEQ MSH6_07235
5 c.3299C>G - p.T1100R 0.191 42.48 0.5310 Thompson et al., 2013 DNA SEQ MSH6_07236
5 c.3299C>T - p.T1100M 0.360 8.88 0.0624 Thompson et al., 2013 DNA SEQ MSH6_07237
5 c.3301A>C - p.K1101Q 0.087 3.02 0.0018 Thompson et al., 2013 DNA SEQ MSH6_07238
5 c.3301A>G - p.K1101E 0.061 6.44 0.0089 Thompson et al., 2013 DNA SEQ MSH6_07239
5 c.3302A>C - p.K1101T 0.012 5.80 0.0057 Thompson et al., 2013 DNA SEQ MSH6_07240
5 c.3302A>G - p.K1101R 0.102 1.61 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07241
5 c.3302A>T - p.K1101M 0.444 6.24 0.0410 Thompson et al., 2013 DNA SEQ MSH6_07242
5 c.3303G>C - p.K1101N 0.011 3.41 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07243
5 c.3303G>T - p.K1101N 0.011 3.41 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07244
5 c.3304A>C - p.T1102P 0.032 12.63 0.0353 Thompson et al., 2013 DNA SEQ MSH6_07245
5 c.3304A>G - p.T1102A 0.051 8.64 0.0165 Thompson et al., 2013 DNA SEQ MSH6_07246
5 c.3304A>T - p.T1102S 0.012 2.26 0.0007 Thompson et al., 2013 DNA SEQ MSH6_07247
5 c.3305C>A - p.T1102N 0.032 5.53 0.0056 Thompson et al., 2013 DNA SEQ MSH6_07248
5 c.3305C>G - p.T1102S 0.012 2.26 0.0007 Thompson et al., 2013 DNA SEQ MSH6_07249
5 c.3305C>T - p.T1102I 0.061 4.83 0.0047 Thompson et al., 2013 DNA SEQ MSH6_07250
5 c.3307T>A - p.F1103I 0.129 5.13 0.0071 Thompson et al., 2013 DNA SEQ MSH6_07251
5 c.3307T>C - p.F1103L 0.046 7.65 0.0123 Thompson et al., 2013 DNA SEQ MSH6_07252
5 c.3307T>G - p.F1103V 0.207 10.03 0.0438 Thompson et al., 2013 DNA SEQ MSH6_07253
5 c.3308T>A - p.F1103Y 0.070 5.20 0.0057 Thompson et al., 2013 DNA SEQ MSH6_07254
5 c.3308T>C - p.F1103S 0.075 10.50 0.0281 Thompson et al., 2013 DNA SEQ MSH6_07255
5 c.3308T>G - p.F1103C 0.880 9.94 0.4408 Thompson et al., 2013 DNA SEQ MSH6_07256
5 c.3309T>A - p.F1103L 0.046 7.65 0.0123 Thompson et al., 2013 DNA SEQ MSH6_07257
5 c.3309T>G - p.F1103L 0.046 7.65 0.0123 Thompson et al., 2013 DNA SEQ MSH6_07258
5 c.3310T>A - p.F1104I 0.131 2.70 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07259
5 c.3310T>C - p.F1104L 0.006 2.92 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07260
5 c.3310T>G - p.F1104V 0.019 4.06 0.0026 Thompson et al., 2013 DNA SEQ MSH6_07261
5 c.3311T>A - p.F1104Y 0.200 5.39 0.0107 Thompson et al., 2013 DNA SEQ MSH6_07262
5 c.3311T>C - p.F1104S 0.002 2.93 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07263
5 c.3311T>G - p.F1104C 0.735 3.50 0.0382 Thompson et al., 2013 DNA SEQ MSH6_07264
5 c.3312T>A - p.F1104L 0.006 2.92 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07265
5 c.3312T>G - p.F1104L 0.006 2.92 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07266
5 c.3313G>A - p.G1105R 0.385 36.61 0.6486 Thompson et al., 2013 DNA SEQ MSH6_07267
5 c.3313G>C - p.G1105R 0.385 36.61 0.6486 Thompson et al., 2013 DNA SEQ MSH6_07268
5 c.3314G>A - p.G1105E 0.385 34.69 0.6202 Thompson et al., 2013 DNA SEQ MSH6_07269
5 c.3314G>C - p.G1105A 0.169 16.83 0.1119 Thompson et al., 2013 DNA SEQ MSH6_07270
5 c.3314G>T - p.G1105V 0.125 24.66 0.1991 Thompson et al., 2013 DNA SEQ MSH6_07271
5 c.3316G>A - p.D1106N 0.083 2.93 0.0016 Thompson et al., 2013 DNA SEQ MSH6_07272
5 c.3316G>C - p.D1106H 0.910 6.71 0.2685 Thompson et al., 2013 DNA SEQ MSH6_07273
5 c.3316G>T - p.D1106Y 0.732 9.74 0.2861 Thompson et al., 2013 DNA SEQ MSH6_07274
5 c.3317A>C - p.D1106A 0.191 6.82 0.0175 Thompson et al., 2013 DNA SEQ MSH6_07275
5 c.3317A>G - p.D1106G 0.014 4.64 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07276
5 c.3317A>T - p.D1106V 0.143 11.75 0.0475 Thompson et al., 2013 DNA SEQ MSH6_07277
5 c.3318T>A - p.D1106E 0.083 7.15 0.0124 Thompson et al., 2013 DNA SEQ MSH6_07278
5 c.3318T>G - p.D1106E 0.083 7.15 0.0124 Thompson et al., 2013 DNA SEQ MSH6_07279
5 c.3319G>A - p.D1107N 0.192 4.00 0.0053 Thompson et al., 2013 DNA SEQ MSH6_07280
5 c.3319G>C - p.D1107H 0.963 7.49 0.3713 Thompson et al., 2013 DNA SEQ MSH6_07281
5 c.3319G>T - p.D1107Y 0.963 10.48 0.5586 Thompson et al., 2013 DNA SEQ MSH6_07282
5 c.3320A>C - p.D1107A 0.259 17.70 0.1717 Thompson et al., 2013 DNA SEQ MSH6_07283
5 c.3320A>G - p.D1107G 0.198 11.74 0.0592 Thompson et al., 2013 DNA SEQ MSH6_07284
5 c.3320A>T - p.D1107V 0.838 11.30 0.4686 Thompson et al., 2013 DNA SEQ MSH6_07285
5 c.3321T>A - p.D1107E 0.192 22.29 0.2082 Thompson et al., 2013 DNA SEQ MSH6_07286
5 c.3321T>G - p.D1107E 0.192 22.29 0.2082 Thompson et al., 2013 DNA SEQ MSH6_07287
5 c.3322T>A - p.F1108I 0.903 8.68 0.3899 Thompson et al., 2013 DNA SEQ MSH6_07288
5 c.3322T>C - p.F1108L 0.840 11.19 0.4652 Thompson et al., 2013 DNA SEQ MSH6_07289
5 c.3322T>G - p.F1108V 0.962 15.78 0.7614 Thompson et al., 2013 DNA SEQ MSH6_07290
5 c.3323T>A - p.F1108Y 0.251 6.29 0.0188 Thompson et al., 2013 DNA SEQ MSH6_07291
5 c.3323T>C - p.F1108S 0.990 16.40 0.7969 Thompson et al., 2013 DNA SEQ MSH6_07292
5 c.3323T>G - p.F1108C 0.997 16.03 0.7934 Thompson et al., 2013 DNA SEQ MSH6_07293
5 c.3324T>A - p.F1108L 0.840 11.19 0.4652 Thompson et al., 2013 DNA SEQ MSH6_07294
5 c.3324T>G - p.F1108L 0.840 11.19 0.4652 Thompson et al., 2013 DNA SEQ MSH6_07295
5 c.3325A>C - p.I1109L 0.954 10.44 0.5470 Thompson et al., 2013 DNA SEQ MSH6_07296
5 c.3325A>G - p.I1109V 0.289 10.65 0.0692 Thompson et al., 2013 DNA SEQ MSH6_07297
5 c.3325A>T - p.I1109F 0.994 10.65 0.5997 Thompson et al., 2013 DNA SEQ MSH6_07298
5 c.3326T>A - p.I1109N 0.996 17.95 0.8317 Thompson et al., 2013 DNA SEQ MSH6_07299
5 c.3326T>C - p.I1109T 0.987 19.60 0.8531 Thompson et al., 2013 DNA SEQ MSH6_07300
7201 - 7300
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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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