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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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2 c.143A>C - p.D48A 0.998 29.51 0.9391 Thompson et al., 2013 DNA SEQ PMS2_00301
2 c.143A>G - p.D48G 0.999 20.85 0.8755 Thompson et al., 2013 DNA SEQ PMS2_00302
2 c.143A>T - p.D48V 0.999 22.25 0.8907 Thompson et al., 2013 DNA SEQ PMS2_00303
2 c.144T>A - p.D48E 0.988 23.98 0.9021 Thompson et al., 2013 DNA SEQ PMS2_00304
2 c.144T>G - p.D48E 0.988 23.98 0.9021 Thompson et al., 2013 DNA SEQ PMS2_00305
2 c.145G>A - p.A49T 0.998 33.24 0.9528 Thompson et al., 2013 DNA SEQ PMS2_00308
2 c.145G>C - p.A49P 0.999 38.15 0.9652 Thompson et al., 2013 DNA SEQ PMS2_00306
2 c.145G>T - p.A49S 0.998 23.39 0.9009 Thompson et al., 2013 DNA SEQ PMS2_00307
2 c.146C>A - p.A49D 0.999 43.15 0.9734 Thompson et al., 2013 DNA SEQ PMS2_00309
2 c.146C>G - p.A49G 0.995 22.29 0.8894 Thompson et al., 2013 DNA SEQ PMS2_00310
2 c.146C>T - p.A49V 0.998 35.49 0.9591 Thompson et al., 2013 DNA SEQ PMS2_00311
2 c.148G>A - p.G50S 1.000 7.50 0.4095 Thompson et al., 2013 DNA SEQ PMS2_00314
2 c.148G>C - p.G50R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00313
2 c.148G>T - p.G50C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ PMS2_00312
2 c.149G>A - p.G50D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ PMS2_00316
2 c.149G>C - p.G50A 0.998 22.05 0.8883 Thompson et al., 2013 DNA SEQ PMS2_00315
2 c.149G>T - p.G50V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ PMS2_00317
2 c.151G>A - p.A51T 0.999 33.24 0.9530 Thompson et al., 2013 DNA SEQ PMS2_00320
2 c.151G>C - p.A51P 1.000 38.15 0.9653 Thompson et al., 2013 DNA SEQ PMS2_00318
2 c.151G>T - p.A51S 0.999 23.39 0.9013 Thompson et al., 2013 DNA SEQ PMS2_00319
2 c.152C>A - p.A51D 1.000 43.15 0.9736 Thompson et al., 2013 DNA SEQ PMS2_00321
2 c.152C>G - p.A51G 0.997 22.29 0.8903 Thompson et al., 2013 DNA SEQ PMS2_00322
2 c.152C>T - p.A51V 0.999 35.49 0.9592 Thompson et al., 2013 DNA SEQ PMS2_00323
2 c.154A>C - p.T52P 0.998 43.72 0.9741 Thompson et al., 2013 DNA SEQ PMS2_00325
2 c.154A>G - p.T52A 0.984 37.99 0.9626 Thompson et al., 2013 DNA SEQ PMS2_00324
2 c.154A>T - p.T52S 0.989 11.33 0.6280 Thompson et al., 2013 DNA SEQ PMS2_00326
2 c.155C>A - p.T52N 0.998 20.18 0.8667 Thompson et al., 2013 DNA SEQ PMS2_00328
2 c.155C>G - p.T52S 0.989 11.33 0.6280 Thompson et al., 2013 DNA SEQ PMS2_00329
2 c.155C>T - p.T52I 0.999 33.48 0.9537 Thompson et al., 2013 DNA SEQ PMS2_00327
2 c.157A>C - p.N53H 0.943 11.49 0.5889 Thompson et al., 2013 DNA SEQ PMS2_00331
2 c.157A>G - p.N53D 0.692 24.42 0.7314 Thompson et al., 2013 DNA SEQ PMS2_00330
2 c.157A>T - p.N53Y 0.993 3.89 0.1317 Thompson et al., 2013 DNA SEQ PMS2_00332
2 c.158A>C - p.N53T 0.033 2.24 0.0007 Thompson et al., 2013 DNA SEQ PMS2_00335
2 c.158A>G - p.N53S 0.028 1.71 0.0004 Thompson et al., 2013 DNA SEQ PMS2_00334
2 c.158A>T - p.N53I 0.993 4.14 0.1487 Thompson et al., 2013 DNA SEQ PMS2_00333
2 c.159T>A - p.N53K 0.985 23.76 0.8991 Thompson et al., 2013 DNA SEQ PMS2_00337
2 c.159T>G - p.N53K 0.985 23.76 0.8991 Thompson et al., 2013 DNA SEQ PMS2_00336
2 c.160A>C - p.I54L 0.908 10.41 0.4965 Thompson et al., 2013 DNA SEQ PMS2_00339
2 c.160A>G - p.I54V 0.142 3.95 0.0042 Thompson et al., 2013 DNA SEQ PMS2_00340
2 c.160A>T - p.I54F 0.985 8.90 0.4896 Thompson et al., 2013 DNA SEQ PMS2_00338
2 c.161T>A - p.I54N 0.998 15.15 0.7723 Thompson et al., 2013 DNA SEQ PMS2_00341
2 c.161T>C - p.I54T 0.986 13.59 0.7158 Thompson et al., 2013 DNA SEQ PMS2_00343
2 c.161T>G - p.I54S 0.993 13.10 0.7047 Thompson et al., 2013 DNA SEQ PMS2_00342
2 c.162T>G - p.I54M 0.983 14.83 0.7519 Thompson et al., 2013 DNA SEQ PMS2_00344
2 c.163G>A - p.D55N 0.999 13.63 0.7282 Thompson et al., 2013 DNA SEQ PMS2_00346
2 c.163G>C - p.D55H 1.000 18.14 0.8374 Thompson et al., 2013 DNA SEQ PMS2_00345
2 c.163G>T - p.D55Y 1.000 13.83 0.7355 Thompson et al., 2013 DNA SEQ PMS2_00347
3 c.164A>C - p.D55A 0.999 22.54 0.8935 Thompson et al., 2013 DNA SEQ PMS2_00348
3 c.164A>G - p.D55G 1.000 18.01 0.8351 Thompson et al., 2013 DNA SEQ PMS2_00349
3 c.164A>T - p.D55V 1.000 25.61 0.9185 Thompson et al., 2013 DNA SEQ PMS2_00350
3 c.165T>A - p.D55E 0.997 2.77 0.0666 Thompson et al., 2013 DNA SEQ PMS2_00351
3 c.165T>G - p.D55E 0.997 2.77 0.0666 Thompson et al., 2013 DNA SEQ PMS2_00352
3 c.166C>A - p.L56I 0.423 1.11 0.0008 Thompson et al., 2013 DNA SEQ PMS2_00353
3 c.166C>G - p.L56V 0.030 3.66 0.0022 Thompson et al., 2013 DNA SEQ PMS2_00354
3 c.167T>A - p.L56Q 0.997 14.93 0.7656 Thompson et al., 2013 DNA SEQ PMS2_00356
3 c.167T>C - p.L56P 0.998 17.74 0.8291 Thompson et al., 2013 DNA SEQ PMS2_00355
3 c.167T>G - p.L56R 0.998 33.14 0.9525 Thompson et al., 2013 DNA SEQ PMS2_00357
3 c.169A>C - p.K57Q 0.074 10.55 0.0283 Thompson et al., 2013 DNA SEQ PMS2_00359
3 c.169A>G - p.K57E 0.287 19.75 0.2305 Thompson et al., 2013 DNA SEQ PMS2_00358
3 c.170A>C - p.K57T 0.788 21.76 0.7593 Thompson et al., 2013 DNA SEQ PMS2_00362
3 c.170A>G - p.K57R 0.013 1.55 0.0003 Thompson et al., 2013 DNA SEQ PMS2_00361
3 c.170A>T - p.K57M 0.904 14.61 0.6767 Thompson et al., 2013 DNA SEQ PMS2_00360
3 c.171G>C - p.K57N 0.788 12.75 0.4838 Thompson et al., 2013 DNA SEQ PMS2_00363
3 c.171G>T - p.K57N 0.788 12.75 0.4838 Thompson et al., 2013 DNA SEQ PMS2_00364
3 c.172C>A - p.L58I 0.999 15.46 0.7810 Thompson et al., 2013 DNA SEQ PMS2_00366
3 c.172C>G - p.L58V 0.997 25.80 0.9188 Thompson et al., 2013 DNA SEQ PMS2_00367
3 c.172C>T - p.L58F 1.000 12.59 0.6920 Thompson et al., 2013 DNA SEQ PMS2_00365
3 c.173T>A - p.L58H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ PMS2_00368
3 c.173T>C - p.L58P 1.000 36.32 0.9614 Thompson et al., 2013 DNA SEQ PMS2_00369
3 c.173T>G - p.L58R 1.000 33.02 0.9525 Thompson et al., 2013 DNA SEQ PMS2_00370
3 c.175A>C - p.K59Q 0.998 14.08 0.7417 Thompson et al., 2013 DNA SEQ PMS2_00372
3 c.175A>G - p.K59E 0.998 23.70 0.9035 Thompson et al., 2013 DNA SEQ PMS2_00371
3 c.176A>C - p.K59T 1.000 27.99 0.9323 Thompson et al., 2013 DNA SEQ PMS2_00375
3 c.176A>G - p.K59R 0.998 7.31 0.3934 Thompson et al., 2013 DNA SEQ PMS2_00374
3 c.176A>T - p.K59M 0.999 17.24 0.8204 Thompson et al., 2013 DNA SEQ PMS2_00373
3 c.177G>C - p.K59N 1.000 14.55 0.7573 Thompson et al., 2013 DNA SEQ PMS2_00376
3 c.177G>T - p.K59N 1.000 14.55 0.7573 Thompson et al., 2013 DNA SEQ PMS2_00377
3 c.178G>A - p.D60N 0.901 3.76 0.0866 Thompson et al., 2013 DNA SEQ PMS2_00379
3 c.178G>C - p.D60H 0.976 5.38 0.2275 Thompson et al., 2013 DNA SEQ PMS2_00378
3 c.178G>T - p.D60Y 0.991 6.00 0.2868 Thompson et al., 2013 DNA SEQ PMS2_00380
3 c.179A>C - p.D60A 0.892 8.46 0.3652 Thompson et al., 2013 DNA SEQ PMS2_00381
3 c.179A>G - p.D60G 0.916 6.07 0.2307 Thompson et al., 2013 DNA SEQ PMS2_00382
3 c.179A>T - p.D60V 0.969 11.53 0.6173 Thompson et al., 2013 DNA SEQ PMS2_00383
3 c.180C>A - p.D60E 0.056 1.66 0.0004 Thompson et al., 2013 DNA SEQ PMS2_00384
3 c.180C>G - p.D60E 0.056 1.66 0.0004 Thompson et al., 2013 DNA SEQ PMS2_00385
3 c.181T>A - p.Y61N 0.172 3.65 0.0040 Thompson et al., 2013 DNA SEQ PMS2_00388
3 c.181T>C - p.Y61H 0.152 2.21 0.0012 Thompson et al., 2013 DNA SEQ PMS2_00387
3 c.181T>G - p.Y61D 0.813 8.57 0.2973 Thompson et al., 2013 DNA SEQ PMS2_00386
3 c.182A>C - p.Y61S 0.704 3.68 0.0376 Thompson et al., 2013 DNA SEQ PMS2_00391
3 c.182A>G - p.Y61C 0.152 4.02 0.0045 Thompson et al., 2013 DNA SEQ PMS2_00389
3 c.182A>T - p.Y61F 0.643 3.99 0.0349 Thompson et al., 2013 DNA SEQ PMS2_00390
3 c.184G>A - p.G62R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00392
3 c.184G>C - p.G62R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00393
3 c.185G>A - p.G62E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ PMS2_00395
3 c.185G>C - p.G62A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ PMS2_00394
3 c.185G>T - p.G62V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ PMS2_00396
3 c.187G>A - p.V63M 0.071 4.36 0.0039 Thompson et al., 2013 DNA SEQ PMS2_00399
3 c.187G>C - p.V63L 0.115 2.63 0.0015 Thompson et al., 2013 DNA SEQ PMS2_00398
3 c.187G>T - p.V63L 0.115 2.63 0.0015 Thompson et al., 2013 DNA SEQ PMS2_00397
3 c.188T>A - p.V63E 0.628 30.46 0.7739 Thompson et al., 2013 DNA SEQ PMS2_00401
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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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