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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 PMS2_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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3 c.188T>C - p.V63A 0.058 2.32 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00400
3 c.188T>G - p.V63G 0.602 2.73 0.0127 Thompson et al., 2013 DNA SEQ PMS2_00402
3 c.190G>A - p.D64N 0.849 2.74 0.0357 Thompson et al., 2013 DNA SEQ PMS2_00404
3 c.190G>C - p.D64H 0.962 3.54 0.0969 Thompson et al., 2013 DNA SEQ PMS2_00403
3 c.190G>T - p.D64Y 0.986 5.10 0.2140 Thompson et al., 2013 DNA SEQ PMS2_00405
3 c.191A>C - p.D64A 0.836 5.00 0.1208 Thompson et al., 2013 DNA SEQ PMS2_00406
3 c.191A>G - p.D64G 0.871 6.42 0.2195 Thompson et al., 2013 DNA SEQ PMS2_00407
3 c.191A>T - p.D64V 0.921 5.33 0.1857 Thompson et al., 2013 DNA SEQ PMS2_00408
3 c.192T>A - p.D64E 0.036 1.09 0.0001 Thompson et al., 2013 DNA SEQ PMS2_00409
3 c.192T>G - p.D64E 0.036 1.09 0.0001 Thompson et al., 2013 DNA SEQ PMS2_00410
3 c.193C>A - p.L65I 0.754 2.00 0.0120 Thompson et al., 2013 DNA SEQ PMS2_00412
3 c.193C>G - p.L65V 0.526 3.31 0.0142 Thompson et al., 2013 DNA SEQ PMS2_00413
3 c.193C>T - p.L65F 0.188 2.97 0.0027 Thompson et al., 2013 DNA SEQ PMS2_00411
3 c.194T>A - p.L65H 0.910 11.86 0.5722 Thompson et al., 2013 DNA SEQ PMS2_00414
3 c.194T>C - p.L65P 0.957 8.08 0.4061 Thompson et al., 2013 DNA SEQ PMS2_00415
3 c.194T>G - p.L65R 0.928 28.77 0.9152 Thompson et al., 2013 DNA SEQ PMS2_00416
3 c.196A>C - p.I66L 0.892 4.31 0.1107 Thompson et al., 2013 DNA SEQ PMS2_00418
3 c.196A>G - p.I66V 0.042 4.93 0.0045 Thompson et al., 2013 DNA SEQ PMS2_00419
3 c.196A>T - p.I66F 0.975 7.26 0.3667 Thompson et al., 2013 DNA SEQ PMS2_00417
3 c.197T>A - p.I66N 1.000 16.43 0.8044 Thompson et al., 2013 DNA SEQ PMS2_00420
3 c.197T>C - p.I66T 0.996 15.25 0.7734 Thompson et al., 2013 DNA SEQ PMS2_00422
3 c.197T>G - p.I66S 0.999 14.39 0.7519 Thompson et al., 2013 DNA SEQ PMS2_00421
3 c.198T>G - p.I66M 0.973 10.87 0.5893 Thompson et al., 2013 DNA SEQ PMS2_00423
3 c.199G>A - p.E67K 0.999 19.98 0.8646 Thompson et al., 2013 DNA SEQ PMS2_00424
3 c.199G>C - p.E67Q 0.999 13.20 0.7136 Thompson et al., 2013 DNA SEQ PMS2_00425
3 c.200A>C - p.E67A 0.999 24.45 0.9099 Thompson et al., 2013 DNA SEQ PMS2_00426
3 c.200A>G - p.E67G 1.000 28.23 0.9336 Thompson et al., 2013 DNA SEQ PMS2_00427
3 c.200A>T - p.E67V 0.999 31.34 0.9466 Thompson et al., 2013 DNA SEQ PMS2_00428
3 c.201A>C - p.E67D 0.992 13.31 0.7113 Thompson et al., 2013 DNA SEQ PMS2_00430
3 c.201A>T - p.E67D 0.992 13.31 0.7113 Thompson et al., 2013 DNA SEQ PMS2_00429
3 c.202G>A - p.V68I 0.989 11.96 0.6562 Thompson et al., 2013 DNA SEQ PMS2_00432
3 c.202G>C - p.V68L 0.989 20.81 0.8703 Thompson et al., 2013 DNA SEQ PMS2_00433
3 c.202G>T - p.V68F 0.999 21.09 0.8783 Thompson et al., 2013 DNA SEQ PMS2_00431
3 c.203T>A - p.V68D 1.000 33.13 0.9528 Thompson et al., 2013 DNA SEQ PMS2_00435
3 c.203T>C - p.V68A 0.999 27.75 0.9308 Thompson et al., 2013 DNA SEQ PMS2_00434
3 c.203T>G - p.V68G 1.000 23.22 0.9002 Thompson et al., 2013 DNA SEQ PMS2_00436
3 c.205T>A - p.S69T 0.996 1.85 0.0276 Thompson et al., 2013 DNA SEQ PMS2_00439
3 c.205T>C - p.S69P 0.999 10.75 0.6099 Thompson et al., 2013 DNA SEQ PMS2_00438
3 c.205T>G - p.S69A 0.994 6.14 0.3003 Thompson et al., 2013 DNA SEQ PMS2_00437
3 c.206C>T - p.S69L 1.000 5.52 0.2569 Thompson et al., 2013 DNA SEQ PMS2_00440
3 c.208G>A - p.D70N 0.998 13.97 0.7383 Thompson et al., 2013 DNA SEQ PMS2_00442
3 c.208G>C - p.D70H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ PMS2_00441
3 c.208G>T - p.D70Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ PMS2_00443
3 c.209A>C - p.D70A 0.998 29.51 0.9391 Thompson et al., 2013 DNA SEQ PMS2_00444
3 c.209A>G - p.D70G 0.971 20.85 0.8619 Thompson et al., 2013 DNA SEQ PMS2_00445
3 c.209A>T - p.D70V 0.999 22.25 0.8907 Thompson et al., 2013 DNA SEQ PMS2_00446
3 c.210C>A - p.D70E 0.993 23.98 0.9040 Thompson et al., 2013 DNA SEQ PMS2_00448
3 c.210C>G - p.D70E 0.993 23.98 0.9040 Thompson et al., 2013 DNA SEQ PMS2_00447
3 c.211A>C - p.N71H 0.999 9.63 0.5491 Thompson et al., 2013 DNA SEQ PMS2_00450
3 c.211A>G - p.N71D 0.997 5.80 0.2764 Thompson et al., 2013 DNA SEQ PMS2_00449
3 c.211A>T - p.N71Y 1.000 18.94 0.8503 Thompson et al., 2013 DNA SEQ PMS2_00451
3 c.212A>C - p.N71T 0.991 13.58 0.7197 Thompson et al., 2013 DNA SEQ PMS2_00454
3 c.212A>G - p.N71S 0.908 11.63 0.5592 Thompson et al., 2013 DNA SEQ PMS2_00453
3 c.212A>T - p.N71I 1.000 30.13 0.9422 Thompson et al., 2013 DNA SEQ PMS2_00452
3 c.213T>A - p.N71K 0.999 11.95 0.6653 Thompson et al., 2013 DNA SEQ PMS2_00455
3 c.213T>G - p.N71K 0.999 11.95 0.6653 Thompson et al., 2013 DNA SEQ PMS2_00456
3 c.214G>A - p.G72R 1.000 45.20 0.9761 Thompson et al., 2013 DNA SEQ PMS2_00457
3 c.214G>C - p.G72R 1.000 45.20 0.9761 Thompson et al., 2013 DNA SEQ PMS2_00458
3 c.215G>A - p.G72E 1.000 39.91 0.9686 Thompson et al., 2013 DNA SEQ PMS2_00460
3 c.215G>C - p.G72A 0.999 6.16 0.3064 Thompson et al., 2013 DNA SEQ PMS2_00459
3 c.215G>T - p.G72V 1.000 27.14 0.9278 Thompson et al., 2013 DNA SEQ PMS2_00461
3 c.217T>A - p.C73S 0.238 1.25 0.0005 Thompson et al., 2013 DNA SEQ PMS2_00464
3 c.217T>C - p.C73R 0.536 5.42 0.0439 Thompson et al., 2013 DNA SEQ PMS2_00463
3 c.217T>G - p.C73G 0.024 2.09 0.0006 Thompson et al., 2013 DNA SEQ PMS2_00462
3 c.218G>A - p.C73Y 0.828 4.09 0.0776 Thompson et al., 2013 DNA SEQ PMS2_00467
3 c.218G>C - p.C73S 0.238 1.25 0.0005 Thompson et al., 2013 DNA SEQ PMS2_00466
3 c.218G>T - p.C73F 0.679 2.87 0.0196 Thompson et al., 2013 DNA SEQ PMS2_00465
3 c.219T>G - p.C73W 0.915 4.39 0.1252 Thompson et al., 2013 DNA SEQ PMS2_00468
3 c.220G>A - p.G74R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00470
3 c.220G>C - p.G74R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00469
3 c.220G>T - p.G74W 1.000 22.39 0.8925 Thompson et al., 2013 DNA SEQ PMS2_00471
3 c.221G>A - p.G74E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ PMS2_00473
3 c.221G>C - p.G74A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ PMS2_00472
3 c.221G>T - p.G74V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ PMS2_00474
3 c.223G>A - p.V75I 0.868 11.96 0.5327 Thompson et al., 2013 DNA SEQ PMS2_00475
3 c.223G>C - p.V75L 0.920 20.81 0.8334 Thompson et al., 2013 DNA SEQ PMS2_00477
3 c.223G>T - p.V75L 0.920 20.81 0.8334 Thompson et al., 2013 DNA SEQ PMS2_00476
3 c.224T>A - p.V75E 0.998 32.45 0.9503 Thompson et al., 2013 DNA SEQ PMS2_00479
3 c.224T>C - p.V75A 0.996 27.75 0.9300 Thompson et al., 2013 DNA SEQ PMS2_00478
3 c.224T>G - p.V75G 0.999 23.22 0.8998 Thompson et al., 2013 DNA SEQ PMS2_00480
3 c.226G>A - p.E76K 0.155 6.59 0.0139 Thompson et al., 2013 DNA SEQ PMS2_00481
3 c.226G>C - p.E76Q 0.747 5.64 0.1100 Thompson et al., 2013 DNA SEQ PMS2_00482
3 c.227A>C - p.E76A 0.855 20.49 0.7854 Thompson et al., 2013 DNA SEQ PMS2_00483
3 c.227A>G - p.E76G 0.915 13.09 0.6309 Thompson et al., 2013 DNA SEQ PMS2_00484
3 c.227A>T - p.E76V 0.802 28.38 0.8595 Thompson et al., 2013 DNA SEQ PMS2_00485
3 c.228A>C - p.E76D 0.283 4.44 0.0098 Thompson et al., 2013 DNA SEQ PMS2_00487
3 c.228A>T - p.E76D 0.283 4.44 0.0098 Thompson et al., 2013 DNA SEQ PMS2_00486
3 c.229G>A - p.E77K 0.224 3.86 0.0056 Thompson et al., 2013 DNA SEQ PMS2_00488
3 c.229G>C - p.E77Q 0.823 3.41 0.0517 Thompson et al., 2013 DNA SEQ PMS2_00489
3 c.230A>C - p.E77A 0.903 11.38 0.5417 Thompson et al., 2013 DNA SEQ PMS2_00490
3 c.230A>G - p.E77G 0.944 8.78 0.4386 Thompson et al., 2013 DNA SEQ PMS2_00491
3 c.230A>T - p.E77V 0.865 15.82 0.6798 Thompson et al., 2013 DNA SEQ PMS2_00492
3 c.231A>C - p.E77D 0.383 2.57 0.0044 Thompson et al., 2013 DNA SEQ PMS2_00494
3 c.231A>T - p.E77D 0.383 2.57 0.0044 Thompson et al., 2013 DNA SEQ PMS2_00493
3 c.232G>A - p.E78K 0.199 2.43 0.0018 Thompson et al., 2013 DNA SEQ PMS2_00495
3 c.232G>C - p.E78Q 0.059 1.68 0.0004 Thompson et al., 2013 DNA SEQ PMS2_00496
3 c.233A>C - p.E78A 0.073 4.07 0.0033 Thompson et al., 2013 DNA SEQ PMS2_00497
3 c.233A>G - p.E78G 0.022 3.61 0.0020 Thompson et al., 2013 DNA SEQ PMS2_00498
3 c.233A>T - p.E78V 0.195 5.46 0.0108 Thompson et al., 2013 DNA SEQ PMS2_00499
3 c.234A>C - p.E78D 0.032 2.40 0.0008 Thompson et al., 2013 DNA SEQ PMS2_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: [ PMS2_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. PMS2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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