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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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4 c.2423T>G - p.V808G 0.548 13.96 0.2929 Thompson et al., 2013 DNA SEQ MSH6_05301
4 c.2425G>A - p.V809I 0.009 2.07 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05302
4 c.2425G>C - p.V809L 0.002 3.65 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05303
4 c.2425G>T - p.V809L 0.002 3.65 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05304
4 c.2426T>A - p.V809E 0.002 6.50 0.0071 Thompson et al., 2013 DNA SEQ MSH6_05305
4 c.2426T>C - p.V809A 0.001 5.63 0.0051 Thompson et al., 2013 DNA SEQ MSH6_05306
4 c.2426T>G - p.V809G 0.002 3.58 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05307
4 c.2428G>A - p.E810K 0.003 5.70 0.0053 Thompson et al., 2013 DNA SEQ MSH6_05308
4 c.2428G>C - p.E810Q 0.007 3.99 0.0024 Thompson et al., 2013 DNA SEQ MSH6_05309
4 c.2429A>C - p.E810A 0.007 8.44 0.0130 Thompson et al., 2013 DNA SEQ MSH6_05310
4 c.2429A>G - p.E810G 0.005 6.06 0.0061 Thompson et al., 2013 DNA SEQ MSH6_05311
4 c.2429A>T - p.E810V 0.014 11.51 0.0267 Thompson et al., 2013 DNA SEQ MSH6_05312
4 c.2430G>C - p.E810D 0.001 1.54 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05313
4 c.2430G>T - p.E810D 0.001 1.54 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05314
4 c.2431C>A - p.L811I 0.059 2.13 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05315
4 c.2431C>G - p.L811V 0.010 4.27 0.0028 Thompson et al., 2013 DNA SEQ MSH6_05316
4 c.2431C>T - p.L811F 0.036 2.52 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05317
4 c.2432T>A - p.L811H 0.031 4.70 0.0039 Thompson et al., 2013 DNA SEQ MSH6_05318
4 c.2432T>C - p.L811P 0.562 10.14 0.1755 Thompson et al., 2013 DNA SEQ MSH6_05319
4 c.2432T>G - p.L811R 0.084 13.15 0.0477 Thompson et al., 2013 DNA SEQ MSH6_05320
4 c.2434C>A - p.L812I 0.840 5.56 0.1509 Thompson et al., 2013 DNA SEQ MSH6_05321
4 c.2434C>G - p.L812V 0.932 13.88 0.6773 Thompson et al., 2013 DNA SEQ MSH6_05322
4 c.2435T>A - p.L812Q 0.992 14.54 0.7507 Thompson et al., 2013 DNA SEQ MSH6_05323
4 c.2435T>C - p.L812P 0.992 33.31 0.9519 Thompson et al., 2013 DNA SEQ MSH6_05324
4 c.2435T>G - p.L812R 0.992 37.87 0.9636 Thompson et al., 2013 DNA SEQ MSH6_05325
4 c.2437A>C - p.K813Q 0.417 10.63 0.1132 Thompson et al., 2013 DNA SEQ MSH6_05326
4 c.2437A>G - p.K813E 0.417 19.97 0.3483 Thompson et al., 2013 DNA SEQ MSH6_05327
4 c.2438A>C - p.K813T 0.140 22.40 0.1757 Thompson et al., 2013 DNA SEQ MSH6_05328
4 c.2438A>G - p.K813R 0.136 2.64 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05329
4 c.2438A>T - p.K813M 0.861 14.71 0.6390 Thompson et al., 2013 DNA SEQ MSH6_05330
4 c.2439G>C - p.K813N 0.417 12.60 0.1581 Thompson et al., 2013 DNA SEQ MSH6_05331
4 c.2439G>T - p.K813N 0.417 12.60 0.1581 Thompson et al., 2013 DNA SEQ MSH6_05332
4 c.2440A>C - p.K814Q 0.520 3.89 0.0198 Thompson et al., 2013 DNA SEQ MSH6_05333
4 c.2440A>G - p.K814E 0.422 8.68 0.0761 Thompson et al., 2013 DNA SEQ MSH6_05334
4 c.2441A>C - p.K814T 0.175 7.79 0.0220 Thompson et al., 2013 DNA SEQ MSH6_05335
4 c.2441A>G - p.K814R 0.259 2.09 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05336
4 c.2441A>T - p.K814M 0.903 6.01 0.2172 Thompson et al., 2013 DNA SEQ MSH6_05337
4 c.2442G>C - p.K814N 0.520 4.27 0.0244 Thompson et al., 2013 DNA SEQ MSH6_05338
4 c.2442G>T - p.K814N 0.520 4.27 0.0244 Thompson et al., 2013 DNA SEQ MSH6_05339
4 c.2443C>A - p.L815I 0.323 4.23 0.0105 Thompson et al., 2013 DNA SEQ MSH6_05340
4 c.2443C>G - p.L815V 0.196 9.16 0.0343 Thompson et al., 2013 DNA SEQ MSH6_05341
4 c.2443C>T - p.L815F 0.596 5.43 0.0562 Thompson et al., 2013 DNA SEQ MSH6_05342
4 c.2444T>A - p.L815H 0.981 15.53 0.7694 Thompson et al., 2013 DNA SEQ MSH6_05343
4 c.2444T>C - p.L815P 0.969 20.11 0.8508 Thompson et al., 2013 DNA SEQ MSH6_05344
4 c.2444T>G - p.L815R 0.981 38.22 0.9627 Thompson et al., 2013 DNA SEQ MSH6_05345
4 c.2446C>A - p.P816T 0.902 17.77 0.7640 Thompson et al., 2013 DNA SEQ MSH6_05346
4 c.2446C>G - p.P816A 0.886 20.00 0.7981 Thompson et al., 2013 DNA SEQ MSH6_05347
4 c.2446C>T - p.P816S 0.840 17.50 0.7059 Thompson et al., 2013 DNA SEQ MSH6_05348
4 c.2447C>A - p.P816Q 0.991 17.67 0.8236 Thompson et al., 2013 DNA SEQ MSH6_05349
4 c.2447C>G - p.P816R 0.991 41.48 0.9701 Thompson et al., 2013 DNA SEQ MSH6_05350
4 c.2447C>T - p.P816L 0.981 26.92 0.9208 Thompson et al., 2013 DNA SEQ MSH6_05351
4 c.2449G>A - p.D817N 0.998 13.97 0.7383 Thompson et al., 2013 DNA SEQ MSH6_05352
4 c.2449G>C - p.D817H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_05353
4 c.2449G>T - p.D817Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ MSH6_05354
4 c.2450A>C - p.D817A 1.000 29.51 0.9395 Thompson et al., 2013 DNA SEQ MSH6_05355
4 c.2450A>G - p.D817G 0.999 20.85 0.8755 Thompson et al., 2013 DNA SEQ MSH6_05356
4 c.2450A>T - p.D817V 1.000 22.25 0.8911 Thompson et al., 2013 DNA SEQ MSH6_05357
4 c.2451T>A - p.D817E 0.999 23.98 0.9062 Thompson et al., 2013 DNA SEQ MSH6_05358
4 c.2451T>G - p.D817E 0.999 23.98 0.9062 Thompson et al., 2013 DNA SEQ MSH6_05359
4 c.2452C>A - p.L818I 0.869 15.46 0.6721 Thompson et al., 2013 DNA SEQ MSH6_05360
4 c.2452C>G - p.L818V 0.695 25.80 0.7575 Thompson et al., 2013 DNA SEQ MSH6_05361
4 c.2452C>T - p.L818F 0.823 12.59 0.5139 Thompson et al., 2013 DNA SEQ MSH6_05362
4 c.2453T>A - p.L818H 0.999 20.32 0.8690 Thompson et al., 2013 DNA SEQ MSH6_05363
4 c.2453T>C - p.L818P 0.996 36.32 0.9607 Thompson et al., 2013 DNA SEQ MSH6_05364
4 c.2453T>G - p.L818R 0.996 33.02 0.9517 Thompson et al., 2013 DNA SEQ MSH6_05365
4 c.2455G>A - p.E819K 0.998 19.98 0.8641 Thompson et al., 2013 DNA SEQ MSH6_05366
4 c.2455G>C - p.E819Q 0.984 13.20 0.7003 Thompson et al., 2013 DNA SEQ MSH6_05367
4 c.2456A>C - p.E819A 0.989 24.45 0.9063 Thompson et al., 2013 DNA SEQ MSH6_05368
4 c.2456A>G - p.E819G 0.998 28.23 0.9330 Thompson et al., 2013 DNA SEQ MSH6_05369
4 c.2456A>T - p.E819V 0.999 31.34 0.9466 Thompson et al., 2013 DNA SEQ MSH6_05370
4 c.2457G>C - p.E819D 0.959 13.31 0.6816 Thompson et al., 2013 DNA SEQ MSH6_05371
4 c.2457G>T - p.E819D 0.959 13.31 0.6816 Thompson et al., 2013 DNA SEQ MSH6_05372
4 c.2458A>G - p.R820G 0.999 25.90 0.9200 Thompson et al., 2013 DNA SEQ MSH6_05373
4 c.2458A>T - p.R820W 1.000 22.31 0.8917 Thompson et al., 2013 DNA SEQ MSH6_05374
4 c.2459G>A - p.R820K 0.904 6.07 0.2218 Thompson et al., 2013 DNA SEQ MSH6_05375
4 c.2459G>C - p.R820T 0.996 26.48 0.9228 Thompson et al., 2013 DNA SEQ MSH6_05376
4 c.2459G>T - p.R820M 0.998 15.78 0.7882 Thompson et al., 2013 DNA SEQ MSH6_05377
4 c.2460G>C - p.R820S 0.997 21.57 0.8828 Thompson et al., 2013 DNA SEQ MSH6_05378
4 c.2460G>T - p.R820S 0.997 21.57 0.8828 Thompson et al., 2013 DNA SEQ MSH6_05379
4 c.2461C>A - p.L821I 0.498 15.30 0.2919 Thompson et al., 2013 DNA SEQ MSH6_05380
4 c.2461C>G - p.L821V 0.411 25.13 0.4674 Thompson et al., 2013 DNA SEQ MSH6_05381
4 c.2462T>A - p.L821Q 0.755 11.82 0.4068 Thompson et al., 2013 DNA SEQ MSH6_05382
4 c.2462T>C - p.L821P 0.970 36.53 0.9569 Thompson et al., 2013 DNA SEQ MSH6_05383
4 c.2462T>G - p.L821R 0.755 37.01 0.9015 Thompson et al., 2013 DNA SEQ MSH6_05384
4 c.2464C>A - p.L822I 0.536 15.46 0.3316 Thompson et al., 2013 DNA SEQ MSH6_05385
4 c.2464C>G - p.L822V 0.370 25.80 0.4389 Thompson et al., 2013 DNA SEQ MSH6_05386
4 c.2464C>T - p.L822F 0.846 12.59 0.5383 Thompson et al., 2013 DNA SEQ MSH6_05387
4 c.2465T>A - p.L822H 0.997 20.32 0.8680 Thompson et al., 2013 DNA SEQ MSH6_05388
4 c.2465T>C - p.L822P 0.992 36.32 0.9601 Thompson et al., 2013 DNA SEQ MSH6_05389
4 c.2465T>G - p.L822R 0.992 33.02 0.9509 Thompson et al., 2013 DNA SEQ MSH6_05390
4 c.2467A>C - p.S823R 0.757 4.19 0.0616 Thompson et al., 2013 DNA SEQ MSH6_05391
4 c.2467A>G - p.S823G 0.061 3.44 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05392
4 c.2467A>T - p.S823C 0.222 8.20 0.0299 Thompson et al., 2013 DNA SEQ MSH6_05393
4 c.2468G>A - p.S823N 0.053 5.30 0.0055 Thompson et al., 2013 DNA SEQ MSH6_05394
4 c.2468G>C - p.S823T 0.053 6.79 0.0097 Thompson et al., 2013 DNA SEQ MSH6_05395
4 c.2468G>T - p.S823I 0.140 10.55 0.0371 Thompson et al., 2013 DNA SEQ MSH6_05396
4 c.2469T>A - p.S823R 0.757 4.19 0.0616 Thompson et al., 2013 DNA SEQ MSH6_05397
4 c.2469T>G - p.S823R 0.757 4.19 0.0616 Thompson et al., 2013 DNA SEQ MSH6_05398
4 c.2470A>C - p.K824Q 0.520 5.54 0.0432 Thompson et al., 2013 DNA SEQ MSH6_05399
4 c.2470A>G - p.K824E 0.656 7.80 0.1490 Thompson et al., 2013 DNA SEQ MSH6_05400
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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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