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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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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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1 c.196C>A - p.P66T 0.001 3.48 0.0017 Thompson et al., 2013 DNA SEQ MSH6_00401
1 c.196C>G - p.P66A 0.002 3.17 0.0014 Thompson et al., 2013 DNA SEQ MSH6_00402
1 c.196C>T - p.P66S 0.000 1.78 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00403
1 c.197C>A - p.P66Q 0.006 2.20 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00404
1 c.197C>G - p.P66R 0.000 2.61 0.0009 Thompson et al., 2013 DNA SEQ MSH6_00405
1 c.197C>T - p.P66L 0.000 4.09 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00406
1 c.199C>A - p.P67T 0.019 2.54 0.0009 Thompson et al., 2013 DNA SEQ MSH6_00407
1 c.199C>G - p.P67A 0.001 2.99 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00408
1 c.199C>T - p.P67S 0.019 1.96 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00409
1 c.200C>A - p.P67H 0.208 2.88 0.0027 Thompson et al., 2013 DNA SEQ MSH6_00410
1 c.200C>G - p.P67R 0.079 5.39 0.0064 Thompson et al., 2013 DNA SEQ MSH6_00411
1 c.200C>T - p.P67L 0.027 4.87 0.0041 Thompson et al., 2013 DNA SEQ MSH6_00412
1 c.202A>C - p.K68Q 0.000 1.90 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00413
1 c.202A>G - p.K68E 0.000 2.02 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00414
1 c.203A>C - p.K68T 0.004 5.92 0.0058 Thompson et al., 2013 DNA SEQ MSH6_00415
1 c.203A>G - p.K68R 0.004 3.83 0.0022 Thompson et al., 2013 DNA SEQ MSH6_00416
1 c.203A>T - p.K68M 0.062 3.98 0.0030 Thompson et al., 2013 DNA SEQ MSH6_00417
1 c.204G>C - p.K68N 0.004 2.38 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00418
1 c.204G>T - p.K68N 0.004 2.38 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00419
1 c.205G>A - p.A69T 0.001 6.14 0.0062 Thompson et al., 2013 DNA SEQ MSH6_00420
1 c.205G>C - p.A69P 0.014 6.64 0.0078 Thompson et al., 2013 DNA SEQ MSH6_00421
1 c.205G>T - p.A69S 0.000 2.84 0.0011 Thompson et al., 2013 DNA SEQ MSH6_00422
1 c.206C>A - p.A69E 0.001 3.14 0.0014 Thompson et al., 2013 DNA SEQ MSH6_00423
1 c.206C>G - p.A69G 0.000 2.14 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00424
1 c.206C>T - p.A69V 0.003 8.77 0.0139 Thompson et al., 2013 DNA SEQ MSH6_00425
1 c.208A>C - p.K70Q 0.001 2.04 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00426
1 c.208A>G - p.K70E 0.002 4.98 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00427
1 c.209A>C - p.K70T 0.004 3.06 0.0013 Thompson et al., 2013 DNA SEQ MSH6_00428
1 c.209A>G - p.K70R 0.000 2.30 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00429
1 c.209A>T - p.K70M 0.020 2.82 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00430
1 c.210G>C - p.K70N 0.007 2.18 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00431
1 c.210G>T - p.K70N 0.007 2.18 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00432
1 c.211A>C - p.N71H 0.020 - 0.0028 Thompson et al., 2013 DNA SEQ MSH6_00433
1 c.211A>G - p.N71D 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00434
1 c.211A>T - p.N71Y 0.052 - 0.0037 Thompson et al., 2013 DNA SEQ MSH6_00435
1 c.212A>C - p.N71T 0.003 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00436
1 c.212A>G - p.N71S 0.001 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00437
1 c.212A>T - p.N71I 0.052 - 0.0037 Thompson et al., 2013 DNA SEQ MSH6_00438
1 c.213C>A - p.N71K 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00439
1 c.213C>G - p.N71K 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00440
1 c.214C>A - p.L72I 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00441
1 c.214C>G - p.L72V 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00442
1 c.214C>T - p.L72F 0.014 - 0.0027 Thompson et al., 2013 DNA SEQ MSH6_00443
1 c.215T>A - p.L72H 0.041 - 0.0034 Thompson et al., 2013 DNA SEQ MSH6_00444
1 c.215T>C - p.L72P 0.030 - 0.0031 Thompson et al., 2013 DNA SEQ MSH6_00445
1 c.215T>G - p.L72R 0.031 - 0.0031 Thompson et al., 2013 DNA SEQ MSH6_00446
1 c.217A>C - p.N73H 0.399 3.28 0.0081 Thompson et al., 2013 DNA SEQ MSH6_00447
1 c.217A>G - p.N73D 0.023 7.85 0.0118 Thompson et al., 2013 DNA SEQ MSH6_00448
1 c.217A>T - p.N73Y 0.523 5.60 0.0447 Thompson et al., 2013 DNA SEQ MSH6_00449
1 c.218A>C - p.N73T 0.066 4.43 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00450
1 c.218A>G - p.N73S 0.009 2.92 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00451
1 c.218A>T - p.N73I 0.523 4.58 0.0288 Thompson et al., 2013 DNA SEQ MSH6_00452
1 c.219C>A - p.N73K 0.149 5.86 0.0104 Thompson et al., 2013 DNA SEQ MSH6_00453
1 c.219C>G - p.N73K 0.149 5.86 0.0104 Thompson et al., 2013 DNA SEQ MSH6_00454
1 c.220G>A - p.G74R 0.893 - 0.8184 Thompson et al., 2013 DNA SEQ MSH6_00455
1 c.220G>C - p.G74R 0.893 - 0.8184 Thompson et al., 2013 DNA SEQ MSH6_00456
1 c.221G>A - p.G74E 0.782 - 0.6384 Thompson et al., 2013 DNA SEQ MSH6_00457
1 c.221G>C - p.G74A 0.020 - 0.0028 Thompson et al., 2013 DNA SEQ MSH6_00458
1 c.221G>T - p.G74V 0.684 - 0.4355 Thompson et al., 2013 DNA SEQ MSH6_00459
1 c.223G>A - p.G75R 0.795 - 0.6633 Thompson et al., 2013 DNA SEQ MSH6_00460
1 c.223G>C - p.G75R 0.795 - 0.6633 Thompson et al., 2013 DNA SEQ MSH6_00461
1 c.223G>T - p.G75W 0.957 - 0.8856 Thompson et al., 2013 DNA SEQ MSH6_00462
1 c.224G>A - p.G75E 0.625 - 0.3191 Thompson et al., 2013 DNA SEQ MSH6_00463
1 c.224G>C - p.G75A 0.009 - 0.0026 Thompson et al., 2013 DNA SEQ MSH6_00464
1 c.224G>T - p.G75V 0.502 - 0.1422 Thompson et al., 2013 DNA SEQ MSH6_00465
1 c.226C>A - p.L76M 0.081 - 0.0047 Thompson et al., 2013 DNA SEQ MSH6_00466
1 c.226C>G - p.L76V 0.003 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00467
1 c.227T>A - p.L76Q 0.060 - 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00468
1 c.227T>C - p.L76P 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00469
1 c.227T>G - p.L76R 0.097 - 0.0054 Thompson et al., 2013 DNA SEQ MSH6_00470
1 c.229C>G - p.R77G 0.081 - 0.0047 Thompson et al., 2013 DNA SEQ MSH6_00471
1 c.229C>T - p.R77W 0.509 - 0.1496 Thompson et al., 2013 DNA SEQ MSH6_00472
1 c.230G>A - p.R77Q 0.071 - 0.0043 Thompson et al., 2013 DNA SEQ MSH6_00473
1 c.230G>C - p.R77P 0.122 - 0.0066 Thompson et al., 2013 DNA SEQ MSH6_00474
1 c.230G>T - p.R77L 0.039 - 0.0033 Thompson et al., 2013 DNA SEQ MSH6_00475
1 c.232A>G - p.R78G 0.001 2.99 0.0012 Thompson et al., 2013 DNA SEQ MSH6_00476
1 c.233G>A - p.R78K 0.000 1.15 0.0001 Thompson et al., 2013 DNA SEQ MSH6_00477
1 c.233G>C - p.R78T 0.015 3.54 0.0019 Thompson et al., 2013 DNA SEQ MSH6_00478
1 c.233G>T - p.R78I 0.030 7.47 0.0109 Thompson et al., 2013 DNA SEQ MSH6_00479
1 c.234A>C - p.R78S 0.016 2.25 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00480
1 c.234A>T - p.R78S 0.016 2.25 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00481
1 c.235T>A - p.S79T 0.004 2.76 0.0010 Thompson et al., 2013 DNA SEQ MSH6_00482
1 c.235T>C - p.S79P 0.021 3.40 0.0018 Thompson et al., 2013 DNA SEQ MSH6_00483
1 c.235T>G - p.S79A 0.001 1.89 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00484
1 c.236C>G - p.S79W 0.483 7.84 0.0781 Thompson et al., 2013 DNA SEQ MSH6_00485
1 c.236C>T - p.S79L 0.020 4.70 0.0037 Thompson et al., 2013 DNA SEQ MSH6_00486
1 c.238G>A - p.V80I 0.000 3.95 0.0023 Thompson et al., 2013 DNA SEQ MSH6_00487
1 c.238G>C - p.V80L 0.000 3.53 0.0018 Thompson et al., 2013 DNA SEQ MSH6_00488
1 c.238G>T - p.V80L 0.000 3.53 0.0018 Thompson et al., 2013 DNA SEQ MSH6_00489
1 c.239T>A - p.V80E 0.000 5.21 0.0043 Thompson et al., 2013 DNA SEQ MSH6_00490
1 c.239T>C - p.V80A 0.000 1.94 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00491
1 c.239T>G - p.V80G 0.000 2.25 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00492
1 c.241G>A - p.A81T 0.001 3.57 0.0018 Thompson et al., 2013 DNA SEQ MSH6_00493
1 c.241G>C - p.A81P 0.000 7.38 0.0094 Thompson et al., 2013 DNA SEQ MSH6_00494
1 c.241G>T - p.A81S 0.000 1.99 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00495
1 c.242C>A - p.A81E 0.012 4.18 0.0027 Thompson et al., 2013 DNA SEQ MSH6_00496
1 c.242C>G - p.A81G 0.001 2.77 0.0010 Thompson et al., 2013 DNA SEQ MSH6_00497
1 c.242C>T - p.A81V 0.003 4.76 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00498
1 c.244C>A - p.P82T 0.000 1.61 0.0003 Thompson et al., 2013 DNA SEQ MSH6_00499
1 c.244C>G - p.P82A 0.002 5.50 0.0049 Thompson et al., 2013 DNA SEQ MSH6_00500
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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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