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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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5 c.3326T>G - p.I1109S 0.987 20.83 0.8696 Thompson et al., 2013 DNA SEQ MSH6_07301
5 c.3327T>G - p.I1109M 0.990 15.70 0.7804 Thompson et al., 2013 DNA SEQ MSH6_07302
5 c.3328C>A - p.P1110T 0.994 17.77 0.8273 Thompson et al., 2013 DNA SEQ MSH6_07303
5 c.3328C>G - p.P1110A 0.959 20.00 0.8437 Thompson et al., 2013 DNA SEQ MSH6_07304
5 c.3328C>T - p.P1110S 0.904 17.50 0.7592 Thompson et al., 2013 DNA SEQ MSH6_07305
5 c.3329C>A - p.P1110H 0.999 19.31 0.8552 Thompson et al., 2013 DNA SEQ MSH6_07306
5 c.3329C>G - p.P1110R 0.998 41.48 0.9709 Thompson et al., 2013 DNA SEQ MSH6_07307
5 c.3329C>T - p.P1110L 0.998 26.92 0.9260 Thompson et al., 2013 DNA SEQ MSH6_07308
5 c.3331A>C - p.N1111H 1.000 14.29 0.7497 Thompson et al., 2013 DNA SEQ MSH6_07309
5 c.3331A>G - p.N1111D 0.999 29.27 0.9382 Thompson et al., 2013 DNA SEQ MSH6_07310
5 c.3331A>T - p.N1111Y 0.999 20.20 0.8675 Thompson et al., 2013 DNA SEQ MSH6_07311
5 c.3332A>C - p.N1111T 0.998 16.73 0.8095 Thompson et al., 2013 DNA SEQ MSH6_07312
5 c.3332A>G - p.N1111S 0.994 13.40 0.7162 Thompson et al., 2013 DNA SEQ MSH6_07313
5 c.3332A>T - p.N1111I 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ MSH6_07314
5 c.3333T>A - p.N1111K 0.999 25.31 0.9161 Thompson et al., 2013 DNA SEQ MSH6_07315
5 c.3333T>G - p.N1111K 0.999 25.31 0.9161 Thompson et al., 2013 DNA SEQ MSH6_07316
5 c.3334G>A - p.D1112N 0.840 13.97 0.5901 Thompson et al., 2013 DNA SEQ MSH6_07317
5 c.3334G>C - p.D1112H 0.992 20.32 0.8656 Thompson et al., 2013 DNA SEQ MSH6_07318
5 c.3334G>T - p.D1112Y 0.992 21.06 0.8747 Thompson et al., 2013 DNA SEQ MSH6_07319
5 c.3335A>C - p.D1112A 0.903 29.51 0.9113 Thompson et al., 2013 DNA SEQ MSH6_07320
5 c.3335A>G - p.D1112G 0.678 20.85 0.6418 Thompson et al., 2013 DNA SEQ MSH6_07321
5 c.3335A>T - p.D1112V 0.846 22.25 0.8094 Thompson et al., 2013 DNA SEQ MSH6_07322
5 c.3336C>A - p.D1112E 0.977 23.98 0.8979 Thompson et al., 2013 DNA SEQ MSH6_07323
5 c.3336C>G - p.D1112E 0.977 23.98 0.8979 Thompson et al., 2013 DNA SEQ MSH6_07324
5 c.3337A>C - p.I1113L 0.277 4.93 0.0121 Thompson et al., 2013 DNA SEQ MSH6_07325
5 c.3337A>G - p.I1113V 0.056 1.74 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07326
5 c.3337A>T - p.I1113F 0.948 4.19 0.1291 Thompson et al., 2013 DNA SEQ MSH6_07327
5 c.3338T>A - p.I1113N 0.960 11.05 0.5849 Thompson et al., 2013 DNA SEQ MSH6_07328
5 c.3338T>C - p.I1113T 0.096 1.73 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07329
5 c.3338T>G - p.I1113S 0.889 3.37 0.0657 Thompson et al., 2013 DNA SEQ MSH6_07330
5 c.3339T>G - p.I1113M 0.889 6.21 0.2197 Thompson et al., 2013 DNA SEQ MSH6_07331
5 c.3340C>A - p.L1114I 0.006 1.43 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07332
5 c.3340C>G - p.L1114V 0.001 3.84 0.0021 Thompson et al., 2013 DNA SEQ MSH6_07333
5 c.3341T>A - p.L1114Q 0.009 10.22 0.0201 Thompson et al., 2013 DNA SEQ MSH6_07334
5 c.3341T>C - p.L1114P 0.132 14.43 0.0705 Thompson et al., 2013 DNA SEQ MSH6_07335
5 c.3341T>G - p.L1114R 0.009 33.22 0.2298 Thompson et al., 2013 DNA SEQ MSH6_07336
5 c.3343A>C - p.I1115L 0.006 5.41 0.0048 Thompson et al., 2013 DNA SEQ MSH6_07337
5 c.3343A>G - p.I1115V 0.013 4.64 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07338
5 c.3343A>T - p.I1115L 0.006 5.41 0.0048 Thompson et al., 2013 DNA SEQ MSH6_07339
5 c.3344T>A - p.I1115K 0.572 27.36 0.6788 Thompson et al., 2013 DNA SEQ MSH6_07340
5 c.3344T>C - p.I1115T 0.475 14.99 0.2629 Thompson et al., 2013 DNA SEQ MSH6_07341
5 c.3344T>G - p.I1115R 0.837 32.63 0.9070 Thompson et al., 2013 DNA SEQ MSH6_07342
5 c.3345A>G - p.I1115M 0.097 11.57 0.0381 Thompson et al., 2013 DNA SEQ MSH6_07343
5 c.3346G>A - p.G1116S 0.781 7.50 0.2143 Thompson et al., 2013 DNA SEQ MSH6_07344
5 c.3346G>C - p.G1116R 0.962 36.52 0.9554 Thompson et al., 2013 DNA SEQ MSH6_07345
5 c.3346G>T - p.G1116C 0.997 19.13 0.8515 Thompson et al., 2013 DNA SEQ MSH6_07346
5 c.3347G>A - p.G1116D 0.903 35.86 0.9412 Thompson et al., 2013 DNA SEQ MSH6_07347
5 c.3347G>C - p.G1116A 0.840 22.05 0.8022 Thompson et al., 2013 DNA SEQ MSH6_07348
5 c.3347G>T - p.G1116V 0.846 29.36 0.8885 Thompson et al., 2013 DNA SEQ MSH6_07349
5 c.3349T>A - p.C1117S 0.001 2.43 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07350
5 c.3349T>C - p.C1117R 0.012 32.38 0.2219 Thompson et al., 2013 DNA SEQ MSH6_07351
5 c.3349T>G - p.C1117G 0.001 3.74 0.0020 Thompson et al., 2013 DNA SEQ MSH6_07352
5 c.3350G>A - p.C1117Y 0.060 5.29 0.0057 Thompson et al., 2013 DNA SEQ MSH6_07353
5 c.3350G>C - p.C1117S 0.001 2.43 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07354
5 c.3350G>T - p.C1117F 0.096 4.45 0.0045 Thompson et al., 2013 DNA SEQ MSH6_07355
5 c.3351T>G - p.C1117W 0.466 5.44 0.0332 Thompson et al., 2013 DNA SEQ MSH6_07356
5 c.3352G>A - p.E1118K 0.006 1.93 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07357
5 c.3352G>C - p.E1118Q 0.093 1.55 0.0004 Thompson et al., 2013 DNA SEQ MSH6_07358
5 c.3353A>C - p.E1118A 0.055 3.12 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07359
5 c.3353A>G - p.E1118G 0.006 2.25 0.0007 Thompson et al., 2013 DNA SEQ MSH6_07360
5 c.3353A>T - p.E1118V 0.040 8.54 0.0154 Thompson et al., 2013 DNA SEQ MSH6_07361
5 c.3354G>C - p.E1118D 0.012 3.67 0.0020 Thompson et al., 2013 DNA SEQ MSH6_07362
5 c.3354G>T - p.E1118D 0.012 3.67 0.0020 Thompson et al., 2013 DNA SEQ MSH6_07363
5 c.3355G>A - p.E1119K 0.024 18.43 0.0771 Thompson et al., 2013 DNA SEQ MSH6_07364
5 c.3355G>C - p.E1119Q 0.102 14.20 0.0605 Thompson et al., 2013 DNA SEQ MSH6_07365
5 c.3356A>C - p.E1119A 0.020 22.67 0.1161 Thompson et al., 2013 DNA SEQ MSH6_07366
5 c.3356A>G - p.E1119G 0.004 17.97 0.0675 Thompson et al., 2013 DNA SEQ MSH6_07367
5 c.3356A>T - p.E1119V 0.013 26.00 0.1482 Thompson et al., 2013 DNA SEQ MSH6_07368
5 c.3357A>C - p.E1119D 0.004 1.64 0.0003 Thompson et al., 2013 DNA SEQ MSH6_07369
5 c.3357A>T - p.E1119D 0.004 1.64 0.0003 Thompson et al., 2013 DNA SEQ MSH6_07370
5 c.3358G>A - p.E1120K 0.068 5.51 0.0065 Thompson et al., 2013 DNA SEQ MSH6_07371
5 c.3358G>C - p.E1120Q 0.040 3.38 0.0019 Thompson et al., 2013 DNA SEQ MSH6_07372
5 c.3359A>C - p.E1120A 0.023 4.35 0.0031 Thompson et al., 2013 DNA SEQ MSH6_07373
5 c.3359A>G - p.E1120G 0.009 4.39 0.0030 Thompson et al., 2013 DNA SEQ MSH6_07374
5 c.3359A>T - p.E1120V 0.008 33.46 0.2319 Thompson et al., 2013 DNA SEQ MSH6_07375
5 c.3360G>C - p.E1120D 0.003 10.54 0.0210 Thompson et al., 2013 DNA SEQ MSH6_07376
5 c.3360G>T - p.E1120D 0.003 10.54 0.0210 Thompson et al., 2013 DNA SEQ MSH6_07377
5 c.3361G>A - p.E1121K 0.015 4.51 0.0033 Thompson et al., 2013 DNA SEQ MSH6_07378
5 c.3361G>C - p.E1121Q 0.171 3.02 0.0026 Thompson et al., 2013 DNA SEQ MSH6_07379
5 c.3362A>C - p.E1121A 0.004 3.51 0.0018 Thompson et al., 2013 DNA SEQ MSH6_07380
5 c.3362A>G - p.E1121G 0.002 4.36 0.0029 Thompson et al., 2013 DNA SEQ MSH6_07381
5 c.3362A>T - p.E1121V 0.066 6.97 0.0109 Thompson et al., 2013 DNA SEQ MSH6_07382
5 c.3363G>C - p.E1121D 0.002 1.77 0.0004 Thompson et al., 2013 DNA SEQ MSH6_07383
5 c.3363G>T - p.E1121D 0.002 1.77 0.0004 Thompson et al., 2013 DNA SEQ MSH6_07384
5 c.3364C>A - p.Q1122K 0.013 3.35 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07385
5 c.3364C>G - p.Q1122E 0.000 2.26 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07386
5 c.3365A>C - p.Q1122P 0.023 13.83 0.0415 Thompson et al., 2013 DNA SEQ MSH6_07387
5 c.3365A>G - p.Q1122R 0.023 5.12 0.0045 Thompson et al., 2013 DNA SEQ MSH6_07388
5 c.3365A>T - p.Q1122L 0.008 8.17 0.0122 Thompson et al., 2013 DNA SEQ MSH6_07389
5 c.3366G>C - p.Q1122H 0.058 6.20 0.0081 Thompson et al., 2013 DNA SEQ MSH6_07390
5 c.3366G>T - p.Q1122H 0.058 6.20 0.0081 Thompson et al., 2013 DNA SEQ MSH6_07391
5 c.3367G>A - p.E1123K 0.108 3.78 0.0033 Thompson et al., 2013 DNA SEQ MSH6_07392
5 c.3367G>C - p.E1123Q 0.108 2.91 0.0018 Thompson et al., 2013 DNA SEQ MSH6_07393
5 c.3368A>C - p.E1123A 0.008 4.71 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07394
5 c.3368A>G - p.E1123G 0.014 2.78 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07395
5 c.3368A>T - p.E1123V 0.177 8.10 0.0242 Thompson et al., 2013 DNA SEQ MSH6_07396
5 c.3369A>C - p.E1123D 0.013 1.94 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07397
5 c.3369A>T - p.E1123D 0.013 1.94 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07398
5 c.3370A>C - p.N1124H 0.008 4.18 0.0027 Thompson et al., 2013 DNA SEQ MSH6_07399
5 c.3370A>G - p.N1124D 0.002 2.20 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07400
7301 - 7400
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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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