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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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10 c.1099G>C - p.V367L 0.253 3.43 0.0048 Thompson et al., 2013 DNA SEQ PMS2_02402
10 c.1099G>T - p.V367F 0.862 4.48 0.1068 Thompson et al., 2013 DNA SEQ PMS2_02400
10 c.1100T>A - p.V367D 0.787 33.78 0.8950 Thompson et al., 2013 DNA SEQ PMS2_02404
10 c.1100T>C - p.V367A 0.072 3.28 0.0020 Thompson et al., 2013 DNA SEQ PMS2_02403
10 c.1100T>G - p.V367G 0.618 2.72 0.0134 Thompson et al., 2013 DNA SEQ PMS2_02405
10 c.1102A>C - p.N368H 0.990 12.02 0.6597 Thompson et al., 2013 DNA SEQ PMS2_02407
10 c.1102A>G - p.N368D 0.969 24.05 0.8954 Thompson et al., 2013 DNA SEQ PMS2_02406
10 c.1102A>T - p.N368Y 0.990 7.11 0.3705 Thompson et al., 2013 DNA SEQ PMS2_02408
10 c.1103A>C - p.N368T 0.983 4.02 0.1354 Thompson et al., 2013 DNA SEQ PMS2_02411
10 c.1103A>G - p.N368S 0.969 2.77 0.0596 Thompson et al., 2013 DNA SEQ PMS2_02410
10 c.1103A>T - p.N368I 0.990 10.46 0.5857 Thompson et al., 2013 DNA SEQ PMS2_02409
10 c.1104C>A - p.N368K 0.983 26.00 0.9156 Thompson et al., 2013 DNA SEQ PMS2_02413
10 c.1104C>G - p.N368K 0.983 26.00 0.9156 Thompson et al., 2013 DNA SEQ PMS2_02412
10 c.1105A>C - p.K369Q 0.987 2.67 0.0592 Thompson et al., 2013 DNA SEQ PMS2_02415
10 c.1105A>G - p.K369E 0.969 6.28 0.2888 Thompson et al., 2013 DNA SEQ PMS2_02414
10 c.1106A>C - p.K369T 0.987 3.15 0.0839 Thompson et al., 2013 DNA SEQ PMS2_02418
10 c.1106A>G - p.K369R 0.969 2.80 0.0609 Thompson et al., 2013 DNA SEQ PMS2_02417
10 c.1106A>T - p.K369M 0.990 3.83 0.1263 Thompson et al., 2013 DNA SEQ PMS2_02416
10 c.1107G>C - p.K369N 0.987 2.14 0.0367 Thompson et al., 2013 DNA SEQ PMS2_02420
10 c.1107G>T - p.K369N 0.987 2.14 0.0367 Thompson et al., 2013 DNA SEQ PMS2_02419
10 c.1108C>A - p.L370I 0.017 2.64 0.0010 Thompson et al., 2013 DNA SEQ PMS2_02421
10 c.1108C>G - p.L370V 0.007 5.67 0.0053 Thompson et al., 2013 DNA SEQ PMS2_02422
10 c.1109T>A - p.L370Q 0.688 3.93 0.0406 Thompson et al., 2013 DNA SEQ PMS2_02424
10 c.1109T>C - p.L370P 0.502 11.01 0.1657 Thompson et al., 2013 DNA SEQ PMS2_02423
10 c.1109T>G - p.L370R 0.626 10.43 0.2296 Thompson et al., 2013 DNA SEQ PMS2_02425
10 c.1111A>C - p.N371H 0.171 3.58 0.0038 Thompson et al., 2013 DNA SEQ PMS2_02427
10 c.1111A>G - p.N371D 0.031 2.52 0.0009 Thompson et al., 2013 DNA SEQ PMS2_02426
10 c.1111A>T - p.N371Y 0.171 5.61 0.0104 Thompson et al., 2013 DNA SEQ PMS2_02428
10 c.1112A>C - p.N371T 0.001 4.43 0.0030 Thompson et al., 2013 DNA SEQ PMS2_02431
10 c.1112A>G - p.N371S 0.001 2.62 0.0009 Thompson et al., 2013 DNA SEQ PMS2_02430
10 c.1112A>T - p.N371I 0.131 6.19 0.0109 Thompson et al., 2013 DNA SEQ PMS2_02429
10 c.1113T>A - p.N371K 0.031 3.55 0.0020 Thompson et al., 2013 DNA SEQ PMS2_02432
10 c.1113T>G - p.N371K 0.031 3.55 0.0020 Thompson et al., 2013 DNA SEQ PMS2_02433
10 c.1114G>A - p.V372I 0.033 2.91 0.0013 Thompson et al., 2013 DNA SEQ PMS2_02435
10 c.1114G>C - p.V372L 0.010 6.27 0.0068 Thompson et al., 2013 DNA SEQ PMS2_02436
10 c.1114G>T - p.V372F 0.420 7.64 0.0576 Thompson et al., 2013 DNA SEQ PMS2_02434
10 c.1115T>A - p.V372D 0.736 37.04 0.8942 Thompson et al., 2013 DNA SEQ PMS2_02438
10 c.1115T>C - p.V372A 0.201 9.23 0.0356 Thompson et al., 2013 DNA SEQ PMS2_02437
10 c.1115T>G - p.V372G 0.670 10.08 0.2496 Thompson et al., 2013 DNA SEQ PMS2_02439
10 c.1117A>C - p.S373R 0.002 23.31 0.1147 Thompson et al., 2013 DNA SEQ PMS2_02442
10 c.1117A>G - p.S373G 0.031 4.24 0.0031 Thompson et al., 2013 DNA SEQ PMS2_02441
10 c.1117A>T - p.S373C 0.433 7.68 0.0614 Thompson et al., 2013 DNA SEQ PMS2_02440
10 c.1118G>A - p.S373N 0.000 1.13 0.0001 Thompson et al., 2013 DNA SEQ PMS2_02444
10 c.1118G>C - p.S373T 0.031 6.98 0.0094 Thompson et al., 2013 DNA SEQ PMS2_02445
10 c.1118G>T - p.S373I 0.297 8.57 0.0449 Thompson et al., 2013 DNA SEQ PMS2_02443
10 c.1119T>A - p.S373R 0.002 23.31 0.1147 Thompson et al., 2013 DNA SEQ PMS2_02446
10 c.1119T>G - p.S373R 0.002 23.31 0.1147 Thompson et al., 2013 DNA SEQ PMS2_02447
10 c.1120C>A - p.Q374K 0.346 7.79 0.0445 Thompson et al., 2013 DNA SEQ PMS2_02449
10 c.1120C>G - p.Q374E 0.456 8.60 0.0853 Thompson et al., 2013 DNA SEQ PMS2_02448
10 c.1121A>C - p.Q374P 0.800 11.74 0.4499 Thompson et al., 2013 DNA SEQ PMS2_02451
10 c.1121A>G - p.Q374R 0.686 9.05 0.2180 Thompson et al., 2013 DNA SEQ PMS2_02452
10 c.1121A>T - p.Q374L 0.346 7.73 0.0438 Thompson et al., 2013 DNA SEQ PMS2_02450
10 c.1122G>C - p.Q374H 0.055 3.50 0.0022 Thompson et al., 2013 DNA SEQ PMS2_02453
10 c.1122G>T - p.Q374H 0.055 3.50 0.0022 Thompson et al., 2013 DNA SEQ PMS2_02454
10 c.1123C>A - p.Q375K 0.003 2.55 0.0009 Thompson et al., 2013 DNA SEQ PMS2_02456
10 c.1123C>G - p.Q375E 0.047 4.67 0.0041 Thompson et al., 2013 DNA SEQ PMS2_02455
10 c.1124A>C - p.Q375P 0.115 8.71 0.0220 Thompson et al., 2013 DNA SEQ PMS2_02458
10 c.1124A>G - p.Q375R 0.047 3.09 0.0016 Thompson et al., 2013 DNA SEQ PMS2_02459
10 c.1124A>T - p.Q375L 0.076 3.10 0.0018 Thompson et al., 2013 DNA SEQ PMS2_02457
10 c.1125G>C - p.Q375H 0.246 1.59 0.0008 Thompson et al., 2013 DNA SEQ PMS2_02460
10 c.1125G>T - p.Q375H 0.246 1.59 0.0008 Thompson et al., 2013 DNA SEQ PMS2_02461
10 c.1126C>A - p.P376T 0.027 2.83 0.0012 Thompson et al., 2013 DNA SEQ PMS2_02464
10 c.1126C>G - p.P376A 0.038 4.12 0.0029 Thompson et al., 2013 DNA SEQ PMS2_02462
10 c.1126C>T - p.P376S 0.002 4.37 0.0029 Thompson et al., 2013 DNA SEQ PMS2_02463
10 c.1127C>A - p.P376Q 0.158 1.97 0.0009 Thompson et al., 2013 DNA SEQ PMS2_02466
10 c.1127C>G - p.P376R 0.158 6.02 0.0115 Thompson et al., 2013 DNA SEQ PMS2_02467
10 c.1127C>T - p.P376L 0.004 4.42 0.0030 Thompson et al., 2013 DNA SEQ PMS2_02465
10 c.1129C>A - p.L377M 0.990 2.28 0.0426 Thompson et al., 2013 DNA SEQ PMS2_02468
10 c.1129C>G - p.L377V 0.969 5.87 0.2584 Thompson et al., 2013 DNA SEQ PMS2_02469
10 c.1130T>A - p.L377Q 0.990 3.77 0.1224 Thompson et al., 2013 DNA SEQ PMS2_02471
10 c.1130T>C - p.L377P 0.990 10.43 0.5842 Thompson et al., 2013 DNA SEQ PMS2_02470
10 c.1130T>G - p.L377R 0.990 4.35 0.1617 Thompson et al., 2013 DNA SEQ PMS2_02472
10 c.1132C>A - p.L378M 0.592 3.60 0.0225 Thompson et al., 2013 DNA SEQ PMS2_02473
10 c.1132C>G - p.L378V 0.015 1.77 0.0004 Thompson et al., 2013 DNA SEQ PMS2_02474
10 c.1133T>A - p.L378Q 0.781 6.23 0.1518 Thompson et al., 2013 DNA SEQ PMS2_02476
10 c.1133T>C - p.L378P 0.060 2.82 0.0014 Thompson et al., 2013 DNA SEQ PMS2_02475
10 c.1133T>G - p.L378R 0.858 27.87 0.8817 Thompson et al., 2013 DNA SEQ PMS2_02477
10 c.1135G>A - p.D379N 0.011 1.34 0.0002 Thompson et al., 2013 DNA SEQ PMS2_02479
10 c.1135G>C - p.D379H 0.579 2.72 0.0114 Thompson et al., 2013 DNA SEQ PMS2_02478
10 c.1135G>T - p.D379Y 0.579 3.60 0.0213 Thompson et al., 2013 DNA SEQ PMS2_02480
10 c.1136A>C - p.D379A 0.145 3.42 0.0030 Thompson et al., 2013 DNA SEQ PMS2_02481
10 c.1136A>G - p.D379G 0.011 2.95 0.0012 Thompson et al., 2013 DNA SEQ PMS2_02482
10 c.1136A>T - p.D379V 0.314 3.08 0.0049 Thompson et al., 2013 DNA SEQ PMS2_02483
10 c.1137T>A - p.D379E 0.145 3.19 0.0026 Thompson et al., 2013 DNA SEQ PMS2_02484
10 c.1137T>G - p.D379E 0.145 3.19 0.0026 Thompson et al., 2013 DNA SEQ PMS2_02485
10 c.1138G>A - p.V380I 0.001 1.46 0.0002 Thompson et al., 2013 DNA SEQ PMS2_02487
10 c.1138G>C - p.V380L 0.007 2.75 0.0010 Thompson et al., 2013 DNA SEQ PMS2_02488
10 c.1138G>T - p.V380F 0.080 2.14 0.0008 Thompson et al., 2013 DNA SEQ PMS2_02486
10 c.1139T>A - p.V380D 0.045 5.02 0.0047 Thompson et al., 2013 DNA SEQ PMS2_02490
10 c.1139T>C - p.V380A 0.001 4.41 0.0029 Thompson et al., 2013 DNA SEQ PMS2_02489
10 c.1139T>G - p.V380G 0.031 3.10 0.0015 Thompson et al., 2013 DNA SEQ PMS2_02491
10 c.1141G>A - p.E381K 0.018 2.73 0.0011 Thompson et al., 2013 DNA SEQ PMS2_02492
10 c.1141G>C - p.E381Q 0.045 1.39 0.0003 Thompson et al., 2013 DNA SEQ PMS2_02493
10 c.1142A>C - p.E381A 0.002 2.71 0.0010 Thompson et al., 2013 DNA SEQ PMS2_02494
10 c.1142A>G - p.E381G 0.000 2.72 0.0010 Thompson et al., 2013 DNA SEQ PMS2_02495
10 c.1142A>T - p.E381V 0.000 2.75 0.0010 Thompson et al., 2013 DNA SEQ PMS2_02496
10 c.1143A>C - p.E381D 0.018 2.98 0.0013 Thompson et al., 2013 DNA SEQ PMS2_02498
10 c.1143A>T - p.E381D 0.018 2.98 0.0013 Thompson et al., 2013 DNA SEQ PMS2_02497
10 c.1144G>A - p.G382S 0.485 1.88 0.0033 Thompson et al., 2013 DNA SEQ PMS2_02501
10 c.1144G>C - p.G382R 0.853 30.80 0.9015 Thompson et al., 2013 DNA SEQ PMS2_02500
2401 - 2500
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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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