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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.2471A>C - p.K824T 0.738 8.64 0.2385 Thompson et al., 2013 DNA SEQ MSH6_05401
4 c.2471A>G - p.K824R 0.041 4.55 0.0037 Thompson et al., 2013 DNA SEQ MSH6_05402
4 c.2471A>T - p.K824I 0.952 25.58 0.9015 Thompson et al., 2013 DNA SEQ MSH6_05403
4 c.2472A>C - p.K824N 0.422 5.12 0.0242 Thompson et al., 2013 DNA SEQ MSH6_05404
4 c.2472A>T - p.K824N 0.422 5.12 0.0242 Thompson et al., 2013 DNA SEQ MSH6_05405
4 c.2473A>C - p.I825L 0.749 10.44 0.3352 Thompson et al., 2013 DNA SEQ MSH6_05406
4 c.2473A>G - p.I825V 0.330 10.65 0.0813 Thompson et al., 2013 DNA SEQ MSH6_05407
4 c.2473A>T - p.I825F 0.932 10.65 0.5350 Thompson et al., 2013 DNA SEQ MSH6_05408
4 c.2474T>A - p.I825N 0.995 17.95 0.8311 Thompson et al., 2013 DNA SEQ MSH6_05409
4 c.2474T>C - p.I825T 0.932 19.60 0.8212 Thompson et al., 2013 DNA SEQ MSH6_05410
4 c.2474T>G - p.I825S 0.981 20.83 0.8667 Thompson et al., 2013 DNA SEQ MSH6_05411
4 c.2475T>G - p.I825M 0.953 15.70 0.7522 Thompson et al., 2013 DNA SEQ MSH6_05412
4 c.2476C>A - p.H826N 0.935 17.77 0.7884 Thompson et al., 2013 DNA SEQ MSH6_05413
4 c.2476C>G - p.H826D 0.935 36.64 0.9506 Thompson et al., 2013 DNA SEQ MSH6_05414
4 c.2476C>T - p.H826Y 0.036 18.27 0.0793 Thompson et al., 2013 DNA SEQ MSH6_05415
4 c.2477A>C - p.H826P 0.952 43.50 0.9683 Thompson et al., 2013 DNA SEQ MSH6_05416
4 c.2477A>G - p.H826R 0.520 31.55 0.7006 Thompson et al., 2013 DNA SEQ MSH6_05417
4 c.2477A>T - p.H826L 0.520 25.24 0.5851 Thompson et al., 2013 DNA SEQ MSH6_05418
4 c.2478T>A - p.H826Q 0.922 14.29 0.6824 Thompson et al., 2013 DNA SEQ MSH6_05419
4 c.2478T>G - p.H826Q 0.922 14.29 0.6824 Thompson et al., 2013 DNA SEQ MSH6_05420
4 c.2479A>C - p.N827H 0.018 11.62 0.0278 Thompson et al., 2013 DNA SEQ MSH6_05421
4 c.2479A>G - p.N827D 0.038 25.21 0.1529 Thompson et al., 2013 DNA SEQ MSH6_05422
4 c.2479A>T - p.N827Y 0.012 5.74 0.0056 Thompson et al., 2013 DNA SEQ MSH6_05423
4 c.2480A>C - p.N827T 0.004 1.90 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05424
4 c.2480A>G - p.N827S 0.001 0.65 3.82E-05 Thompson et al., 2013 DNA SEQ MSH6_05425
4 c.2480A>T - p.N827I 0.055 10.23 0.0244 Thompson et al., 2013 DNA SEQ MSH6_05426
4 c.2481T>A - p.N827K 0.038 23.79 0.1366 Thompson et al., 2013 DNA SEQ MSH6_05427
4 c.2481T>G - p.N827K 0.038 23.79 0.1366 Thompson et al., 2013 DNA SEQ MSH6_05428
4 c.2482G>A - p.V828I 0.011 1.86 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05429
4 c.2482G>C - p.V828L 0.004 2.09 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05430
4 c.2482G>T - p.V828F 0.011 5.51 0.0051 Thompson et al., 2013 DNA SEQ MSH6_05431
4 c.2483T>A - p.V828D 0.203 39.92 0.5085 Thompson et al., 2013 DNA SEQ MSH6_05432
4 c.2483T>C - p.V828A 0.027 8.61 0.0148 Thompson et al., 2013 DNA SEQ MSH6_05433
4 c.2483T>G - p.V828G 0.011 13.86 0.0397 Thompson et al., 2013 DNA SEQ MSH6_05434
4 c.2485G>A - p.G829R 0.894 36.61 0.9416 Thompson et al., 2013 DNA SEQ MSH6_05435
4 c.2485G>C - p.G829R 0.894 36.61 0.9416 Thompson et al., 2013 DNA SEQ MSH6_05436
4 c.2485G>T - p.G829W 0.997 15.52 0.7811 Thompson et al., 2013 DNA SEQ MSH6_05437
4 c.2486G>A - p.G829E 0.974 34.69 0.9526 Thompson et al., 2013 DNA SEQ MSH6_05438
4 c.2486G>C - p.G829A 0.730 16.83 0.5789 Thompson et al., 2013 DNA SEQ MSH6_05439
4 c.2486G>T - p.G829V 0.656 24.66 0.7048 Thompson et al., 2013 DNA SEQ MSH6_05440
4 c.2488T>A - p.S830T 0.080 3.16 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05441
4 c.2488T>C - p.S830P 0.861 9.88 0.4176 Thompson et al., 2013 DNA SEQ MSH6_05442
4 c.2488T>G - p.S830A 0.564 6.20 0.0656 Thompson et al., 2013 DNA SEQ MSH6_05443
4 c.2489C>A - p.S830Y 0.789 4.82 0.0938 Thompson et al., 2013 DNA SEQ MSH6_05444
4 c.2489C>G - p.S830C 0.918 3.69 0.0890 Thompson et al., 2013 DNA SEQ MSH6_05445
4 c.2489C>T - p.S830F 0.345 3.29 0.0065 Thompson et al., 2013 DNA SEQ MSH6_05446
4 c.2491C>A - p.P831T 0.438 2.98 0.0077 Thompson et al., 2013 DNA SEQ MSH6_05447
4 c.2491C>G - p.P831A 0.030 2.96 0.0013 Thompson et al., 2013 DNA SEQ MSH6_05448
4 c.2491C>T - p.P831S 0.018 2.49 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05449
4 c.2492C>A - p.P831H 0.861 11.45 0.5005 Thompson et al., 2013 DNA SEQ MSH6_05450
4 c.2492C>G - p.P831R 0.202 29.31 0.3381 Thompson et al., 2013 DNA SEQ MSH6_05451
4 c.2492C>T - p.P831L 0.564 4.65 0.0353 Thompson et al., 2013 DNA SEQ MSH6_05452
4 c.2494C>A - p.L832M 0.837 2.08 0.0185 Thompson et al., 2013 DNA SEQ MSH6_05453
4 c.2494C>G - p.L832V 0.438 8.35 0.0747 Thompson et al., 2013 DNA SEQ MSH6_05454
4 c.2495T>A - p.L832Q 0.308 2.09 0.0020 Thompson et al., 2013 DNA SEQ MSH6_05455
4 c.2495T>C - p.L832P 0.851 27.47 0.8750 Thompson et al., 2013 DNA SEQ MSH6_05456
4 c.2495T>G - p.L832R 0.086 2.08 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05457
4 c.2497A>C - p.K833Q 0.914 10.52 0.5089 Thompson et al., 2013 DNA SEQ MSH6_05458
4 c.2497A>G - p.K833E 0.798 19.74 0.7251 Thompson et al., 2013 DNA SEQ MSH6_05459
4 c.2498A>C - p.K833T 0.704 21.75 0.6878 Thompson et al., 2013 DNA SEQ MSH6_05460
4 c.2498A>G - p.K833R 0.140 1.71 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05461
4 c.2498A>T - p.K833M 0.921 14.62 0.6926 Thompson et al., 2013 DNA SEQ MSH6_05462
4 c.2499G>C - p.K833N 0.854 12.67 0.5504 Thompson et al., 2013 DNA SEQ MSH6_05463
4 c.2499G>T - p.K833N 0.854 12.67 0.5504 Thompson et al., 2013 DNA SEQ MSH6_05464
4 c.2500A>C - p.S834R 0.778 4.69 0.0849 Thompson et al., 2013 DNA SEQ MSH6_05465
4 c.2500A>G - p.S834G 0.079 1.97 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05466
4 c.2500A>T - p.S834C 0.951 6.00 0.2532 Thompson et al., 2013 DNA SEQ MSH6_05467
4 c.2501G>A - p.S834N 0.341 2.33 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05468
4 c.2501G>C - p.S834T 0.350 5.52 0.0212 Thompson et al., 2013 DNA SEQ MSH6_05469
4 c.2501G>T - p.S834I 0.865 7.15 0.2593 Thompson et al., 2013 DNA SEQ MSH6_05470
4 c.2502T>A - p.S834R 0.778 4.69 0.0849 Thompson et al., 2013 DNA SEQ MSH6_05471
4 c.2502T>G - p.S834R 0.778 4.69 0.0849 Thompson et al., 2013 DNA SEQ MSH6_05472
4 c.2503C>A - p.Q835K 0.027 2.24 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05473
4 c.2503C>G - p.Q835E 0.053 3.30 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05474
4 c.2504A>C - p.Q835P 0.696 9.65 0.2518 Thompson et al., 2013 DNA SEQ MSH6_05475
4 c.2504A>G - p.Q835R 0.146 2.86 0.0020 Thompson et al., 2013 DNA SEQ MSH6_05476
4 c.2504A>T - p.Q835L 0.564 7.86 0.1074 Thompson et al., 2013 DNA SEQ MSH6_05477
4 c.2505G>C - p.Q835H 0.895 2.61 0.0388 Thompson et al., 2013 DNA SEQ MSH6_05478
4 c.2505G>T - p.Q835H 0.895 2.61 0.0388 Thompson et al., 2013 DNA SEQ MSH6_05479
4 c.2506A>C - p.N836H 0.686 6.52 0.1169 Thompson et al., 2013 DNA SEQ MSH6_05480
4 c.2506A>G - p.N836D 0.012 1.62 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05481
4 c.2506A>T - p.N836Y 0.118 9.27 0.0255 Thompson et al., 2013 DNA SEQ MSH6_05482
4 c.2507A>C - p.N836T 0.036 8.86 0.0164 Thompson et al., 2013 DNA SEQ MSH6_05483
4 c.2507A>G - p.N836S 0.184 7.88 0.0234 Thompson et al., 2013 DNA SEQ MSH6_05484
4 c.2507A>T - p.N836I 0.817 29.55 0.8773 Thompson et al., 2013 DNA SEQ MSH6_05485
4 c.2508C>A - p.N836K 0.036 5.54 0.0057 Thompson et al., 2013 DNA SEQ MSH6_05486
4 c.2508C>G - p.N836K 0.036 5.54 0.0057 Thompson et al., 2013 DNA SEQ MSH6_05487
4 c.2509C>A - p.H837N 0.998 17.77 0.8297 Thompson et al., 2013 DNA SEQ MSH6_05488
4 c.2509C>G - p.H837D 0.998 36.64 0.9618 Thompson et al., 2013 DNA SEQ MSH6_05489
4 c.2509C>T - p.H837Y 0.928 18.27 0.7938 Thompson et al., 2013 DNA SEQ MSH6_05490
4 c.2510A>C - p.H837P 0.999 43.50 0.9739 Thompson et al., 2013 DNA SEQ MSH6_05491
4 c.2510A>G - p.H837R 0.998 31.55 0.9472 Thompson et al., 2013 DNA SEQ MSH6_05492
4 c.2510A>T - p.H837L 0.998 25.24 0.9153 Thompson et al., 2013 DNA SEQ MSH6_05493
4 c.2511C>A - p.H837Q 0.983 14.29 0.7359 Thompson et al., 2013 DNA SEQ MSH6_05494
4 c.2511C>G - p.H837Q 0.983 14.29 0.7359 Thompson et al., 2013 DNA SEQ MSH6_05495
4 c.2512C>A - p.P838T 0.997 17.77 0.8291 Thompson et al., 2013 DNA SEQ MSH6_05496
4 c.2512C>G - p.P838A 0.978 20.00 0.8540 Thompson et al., 2013 DNA SEQ MSH6_05497
4 c.2512C>T - p.P838S 0.981 17.50 0.8140 Thompson et al., 2013 DNA SEQ MSH6_05498
4 c.2513C>A - p.P838Q 0.999 17.67 0.8285 Thompson et al., 2013 DNA SEQ MSH6_05499
4 c.2513C>G - p.P838R 0.999 41.48 0.9710 Thompson et al., 2013 DNA SEQ MSH6_05500
5401 - 5500
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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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