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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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8 c.3787C>A - p.R1263S 0.014 7.22 0.0094 Thompson et al., 2013 DNA SEQ MSH6_08301
8 c.3787C>G - p.R1263G 0.025 8.73 0.0151 Thompson et al., 2013 DNA SEQ MSH6_08302
8 c.3787C>T - p.R1263C 0.046 10.25 0.0236 Thompson et al., 2013 DNA SEQ MSH6_08303
8 c.3788G>A - p.R1263H 0.666 5.00 0.0624 Thompson et al., 2013 DNA SEQ MSH6_08304
8 c.3788G>C - p.R1263P 0.725 16.24 0.5538 Thompson et al., 2013 DNA SEQ MSH6_08305
8 c.3788G>T - p.R1263L 0.073 5.60 0.0068 Thompson et al., 2013 DNA SEQ MSH6_08306
8 c.3790C>A - p.L1264I 0.884 15.46 0.6860 Thompson et al., 2013 DNA SEQ MSH6_08307
8 c.3790C>G - p.L1264V 0.389 25.80 0.4590 Thompson et al., 2013 DNA SEQ MSH6_08308
8 c.3791T>A - p.L1264Q 0.614 15.01 0.3928 Thompson et al., 2013 DNA SEQ MSH6_08309
8 c.3791T>C - p.L1264P 0.266 36.32 0.5219 Thompson et al., 2013 DNA SEQ MSH6_08310
8 c.3791T>G - p.L1264R 0.614 33.02 0.7948 Thompson et al., 2013 DNA SEQ MSH6_08311
8 c.3793G>A - p.G1265R 0.520 36.52 0.7654 Thompson et al., 2013 DNA SEQ MSH6_08312
8 c.3793G>C - p.G1265R 0.520 36.52 0.7654 Thompson et al., 2013 DNA SEQ MSH6_08313
8 c.3794G>A - p.G1265E 0.824 35.36 0.9171 Thompson et al., 2013 DNA SEQ MSH6_08314
8 c.3794G>C - p.G1265A 0.259 22.05 0.2545 Thompson et al., 2013 DNA SEQ MSH6_08315
8 c.3794G>T - p.G1265V 0.198 29.36 0.3352 Thompson et al., 2013 DNA SEQ MSH6_08316
8 c.3796C>A - p.H1266N 0.989 17.77 0.8242 Thompson et al., 2013 DNA SEQ MSH6_08317
8 c.3796C>G - p.H1266D 0.989 36.64 0.9604 Thompson et al., 2013 DNA SEQ MSH6_08318
8 c.3796C>T - p.H1266Y 0.659 18.27 0.5504 Thompson et al., 2013 DNA SEQ MSH6_08319
8 c.3797A>C - p.H1266P 0.992 43.50 0.9731 Thompson et al., 2013 DNA SEQ MSH6_08320
8 c.3797A>G - p.H1266R 0.734 31.55 0.8534 Thompson et al., 2013 DNA SEQ MSH6_08321
8 c.3797A>T - p.H1266L 0.981 25.24 0.9095 Thompson et al., 2013 DNA SEQ MSH6_08322
8 c.3798T>A - p.H1266Q 0.829 14.29 0.5912 Thompson et al., 2013 DNA SEQ MSH6_08323
8 c.3798T>G - p.H1266Q 0.829 14.29 0.5912 Thompson et al., 2013 DNA SEQ MSH6_08324
8 c.3799A>C - p.M1267L 0.959 13.49 0.6882 Thompson et al., 2013 DNA SEQ MSH6_08325
8 c.3799A>G - p.M1267V 0.932 30.01 0.9236 Thompson et al., 2013 DNA SEQ MSH6_08326
8 c.3799A>T - p.M1267L 0.959 13.49 0.6882 Thompson et al., 2013 DNA SEQ MSH6_08327
8 c.3800T>A - p.M1267K 0.997 27.72 0.9301 Thompson et al., 2013 DNA SEQ MSH6_08328
8 c.3800T>C - p.M1267T 0.984 25.97 0.9157 Thompson et al., 2013 DNA SEQ MSH6_08329
8 c.3800T>G - p.M1267R 0.999 32.16 0.9495 Thompson et al., 2013 DNA SEQ MSH6_08330
8 c.3801G>A - p.M1267I 0.996 21.99 0.8868 Thompson et al., 2013 DNA SEQ MSH6_08331
8 c.3801G>C - p.M1267I 0.996 21.99 0.8868 Thompson et al., 2013 DNA SEQ MSH6_08332
8 c.3801G>T - p.M1267I 0.996 21.99 0.8868 Thompson et al., 2013 DNA SEQ MSH6_08333
9 c.3802G>A - p.A1268T 0.552 15.98 0.3641 Thompson et al., 2013 DNA SEQ MSH6_08334
9 c.3802G>C - p.A1268P 0.950 16.71 0.7754 Thompson et al., 2013 DNA SEQ MSH6_08335
9 c.3802G>T - p.A1268S 0.184 8.94 0.0310 Thompson et al., 2013 DNA SEQ MSH6_08336
9 c.3803C>A - p.A1268E 0.541 38.29 0.7989 Thompson et al., 2013 DNA SEQ MSH6_08337
9 c.3803C>G - p.A1268G 0.184 7.82 0.0230 Thompson et al., 2013 DNA SEQ MSH6_08338
9 c.3803C>T - p.A1268V 0.377 20.34 0.3196 Thompson et al., 2013 DNA SEQ MSH6_08339
9 c.3805T>A - p.C1269S 0.507 14.04 0.2606 Thompson et al., 2013 DNA SEQ MSH6_08340
9 c.3805T>C - p.C1269R 0.870 34.86 0.9288 Thompson et al., 2013 DNA SEQ MSH6_08341
9 c.3805T>G - p.C1269G 0.972 15.41 0.7594 Thompson et al., 2013 DNA SEQ MSH6_08342
9 c.3806G>A - p.C1269Y 0.369 21.23 0.3335 Thompson et al., 2013 DNA SEQ MSH6_08343
9 c.3806G>C - p.C1269S 0.507 14.04 0.2606 Thompson et al., 2013 DNA SEQ MSH6_08344
9 c.3806G>T - p.C1269F 0.360 21.32 0.3272 Thompson et al., 2013 DNA SEQ MSH6_08345
9 c.3807C>G - p.C1269W 0.974 32.95 0.9470 Thompson et al., 2013 DNA SEQ MSH6_08346
9 c.3808A>C - p.M1270L 0.043 13.49 0.0427 Thompson et al., 2013 DNA SEQ MSH6_08347
9 c.3808A>G - p.M1270V 0.038 30.01 0.2114 Thompson et al., 2013 DNA SEQ MSH6_08348
9 c.3808A>T - p.M1270L 0.043 13.49 0.0427 Thompson et al., 2013 DNA SEQ MSH6_08349
9 c.3809T>A - p.M1270K 0.121 27.72 0.2417 Thompson et al., 2013 DNA SEQ MSH6_08350
9 c.3809T>C - p.M1270T 0.194 25.97 0.2728 Thompson et al., 2013 DNA SEQ MSH6_08351
9 c.3809T>G - p.M1270R 0.263 32.16 0.4499 Thompson et al., 2013 DNA SEQ MSH6_08352
9 c.3810G>A - p.M1270I 0.169 21.99 0.1878 Thompson et al., 2013 DNA SEQ MSH6_08353
9 c.3810G>C - p.M1270I 0.169 21.99 0.1878 Thompson et al., 2013 DNA SEQ MSH6_08354
9 c.3810G>T - p.M1270I 0.169 21.99 0.1878 Thompson et al., 2013 DNA SEQ MSH6_08355
9 c.3811G>A - p.V1271I 0.680 11.96 0.3385 Thompson et al., 2013 DNA SEQ MSH6_08356
9 c.3811G>C - p.V1271L 0.589 20.81 0.5497 Thompson et al., 2013 DNA SEQ MSH6_08357
9 c.3811G>T - p.V1271L 0.589 20.81 0.5497 Thompson et al., 2013 DNA SEQ MSH6_08358
9 c.3812T>A - p.V1271E 0.788 32.45 0.8865 Thompson et al., 2013 DNA SEQ MSH6_08359
9 c.3812T>C - p.V1271A 0.788 27.75 0.8456 Thompson et al., 2013 DNA SEQ MSH6_08360
9 c.3812T>G - p.V1271G 0.986 23.22 0.8947 Thompson et al., 2013 DNA SEQ MSH6_08361
9 c.3814G>A - p.E1272K 0.996 19.98 0.8631 Thompson et al., 2013 DNA SEQ MSH6_08362
9 c.3814G>C - p.E1272Q 0.998 13.20 0.7127 Thompson et al., 2013 DNA SEQ MSH6_08363
9 c.3815A>C - p.E1272A 0.996 24.45 0.9088 Thompson et al., 2013 DNA SEQ MSH6_08364
9 c.3815A>G - p.E1272G 0.998 28.23 0.9330 Thompson et al., 2013 DNA SEQ MSH6_08365
9 c.3815A>T - p.E1272V 0.995 31.34 0.9458 Thompson et al., 2013 DNA SEQ MSH6_08366
9 c.3816A>C - p.E1272D 0.925 13.31 0.6494 Thompson et al., 2013 DNA SEQ MSH6_08367
9 c.3816A>T - p.E1272D 0.925 13.31 0.6494 Thompson et al., 2013 DNA SEQ MSH6_08368
9 c.3817A>C - p.N1273H 0.590 4.40 0.0348 Thompson et al., 2013 DNA SEQ MSH6_08369
9 c.3817A>G - p.N1273D 0.397 14.47 0.1911 Thompson et al., 2013 DNA SEQ MSH6_08370
9 c.3817A>T - p.N1273Y 0.957 7.08 0.3362 Thompson et al., 2013 DNA SEQ MSH6_08371
9 c.3818A>C - p.N1273T 0.285 7.17 0.0289 Thompson et al., 2013 DNA SEQ MSH6_08372
9 c.3818A>G - p.N1273S 0.208 7.59 0.0238 Thompson et al., 2013 DNA SEQ MSH6_08373
9 c.3818A>T - p.N1273I 0.974 26.71 0.9173 Thompson et al., 2013 DNA SEQ MSH6_08374
9 c.3819T>A - p.N1273K 0.316 10.00 0.0674 Thompson et al., 2013 DNA SEQ MSH6_08375
9 c.3819T>G - p.N1273K 0.316 10.00 0.0674 Thompson et al., 2013 DNA SEQ MSH6_08376
9 c.3820G>A - p.E1274K 0.766 18.21 0.6572 Thompson et al., 2013 DNA SEQ MSH6_08377
9 c.3820G>C - p.E1274Q 0.766 13.76 0.5036 Thompson et al., 2013 DNA SEQ MSH6_08378
9 c.3821A>C - p.E1274A 0.766 23.13 0.7674 Thompson et al., 2013 DNA SEQ MSH6_08379
9 c.3821A>G - p.E1274G 0.427 19.32 0.3409 Thompson et al., 2013 DNA SEQ MSH6_08380
9 c.3821A>T - p.E1274V 0.567 24.29 0.6123 Thompson et al., 2013 DNA SEQ MSH6_08381
9 c.3822A>C - p.E1274D 0.298 4.62 0.0115 Thompson et al., 2013 DNA SEQ MSH6_08382
9 c.3822A>T - p.E1274D 0.298 4.62 0.0115 Thompson et al., 2013 DNA SEQ MSH6_08383
9 c.3823T>A - p.C1275S 0.002 3.76 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08384
9 c.3823T>C - p.C1275R 0.203 14.24 0.0906 Thompson et al., 2013 DNA SEQ MSH6_08385
9 c.3823T>G - p.C1275G 0.006 10.33 0.0204 Thompson et al., 2013 DNA SEQ MSH6_08386
9 c.3824G>A - p.C1275Y 0.310 12.32 0.1017 Thompson et al., 2013 DNA SEQ MSH6_08387
9 c.3824G>C - p.C1275S 0.002 3.76 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08388
9 c.3824G>T - p.C1275F 0.310 13.33 0.1192 Thompson et al., 2013 DNA SEQ MSH6_08389
9 c.3825T>G - p.C1275W 0.788 18.99 0.6984 Thompson et al., 2013 DNA SEQ MSH6_08390
9 c.3826G>A - p.E1276K 0.853 18.29 0.7371 Thompson et al., 2013 DNA SEQ MSH6_08391
9 c.3826G>C - p.E1276Q 0.766 13.83 0.5065 Thompson et al., 2013 DNA SEQ MSH6_08392
9 c.3827A>C - p.E1276A 0.515 23.03 0.5286 Thompson et al., 2013 DNA SEQ MSH6_08393
9 c.3827A>G - p.E1276G 0.391 18.62 0.2898 Thompson et al., 2013 DNA SEQ MSH6_08394
9 c.3827A>T - p.E1276V 0.895 25.35 0.8756 Thompson et al., 2013 DNA SEQ MSH6_08395
9 c.3828A>C - p.E1276D 0.190 3.49 0.0039 Thompson et al., 2013 DNA SEQ MSH6_08396
9 c.3828A>T - p.E1276D 0.190 3.49 0.0039 Thompson et al., 2013 DNA SEQ MSH6_08397
9 c.3829G>A - p.D1277N 0.631 13.97 0.3714 Thompson et al., 2013 DNA SEQ MSH6_08398
9 c.3829G>C - p.D1277H 0.924 20.32 0.8282 Thompson et al., 2013 DNA SEQ MSH6_08399
9 c.3829G>T - p.D1277Y 0.726 21.06 0.6922 Thompson et al., 2013 DNA SEQ MSH6_08400
8301 - 8400
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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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