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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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4 c.279A>C - p.Q93H 0.697 2.64 0.0175 Thompson et al., 2013 DNA SEQ PMS2_00601
4 c.279A>T - p.Q93H 0.697 2.64 0.0175 Thompson et al., 2013 DNA SEQ PMS2_00602
4 c.280G>A - p.E94K 0.103 5.36 0.0070 Thompson et al., 2013 DNA SEQ PMS2_00603
4 c.280G>C - p.E94Q 0.467 3.59 0.0133 Thompson et al., 2013 DNA SEQ PMS2_00604
4 c.281A>C - p.E94A 0.373 5.66 0.0247 Thompson et al., 2013 DNA SEQ PMS2_00605
4 c.281A>G - p.E94G 0.264 6.71 0.0229 Thompson et al., 2013 DNA SEQ PMS2_00606
4 c.281A>T - p.E94V 0.616 3.80 0.0280 Thompson et al., 2013 DNA SEQ PMS2_00607
4 c.282G>C - p.E94D 0.007 1.37 0.0002 Thompson et al., 2013 DNA SEQ PMS2_00609
4 c.282G>T - p.E94D 0.007 1.37 0.0002 Thompson et al., 2013 DNA SEQ PMS2_00608
4 c.283T>A - p.F95I 0.998 10.86 0.6143 Thompson et al., 2013 DNA SEQ PMS2_00610
4 c.283T>C - p.F95L 0.996 12.82 0.6971 Thompson et al., 2013 DNA SEQ PMS2_00611
4 c.283T>G - p.F95V 0.998 17.61 0.8268 Thompson et al., 2013 DNA SEQ PMS2_00612
4 c.284T>A - p.F95Y 0.997 16.28 0.7991 Thompson et al., 2013 DNA SEQ PMS2_00615
4 c.284T>C - p.F95S 0.999 19.43 0.8570 Thompson et al., 2013 DNA SEQ PMS2_00614
4 c.284T>G - p.F95C 0.999 17.91 0.8328 Thompson et al., 2013 DNA SEQ PMS2_00613
4 c.285T>A - p.F95L 0.996 12.82 0.6971 Thompson et al., 2013 DNA SEQ PMS2_00616
4 c.285T>G - p.F95L 0.996 12.82 0.6971 Thompson et al., 2013 DNA SEQ PMS2_00617
4 c.286G>A - p.A96T 0.008 4.40 0.0030 Thompson et al., 2013 DNA SEQ PMS2_00620
4 c.286G>C - p.A96P 0.415 11.22 0.1252 Thompson et al., 2013 DNA SEQ PMS2_00618
4 c.286G>T - p.A96S 0.005 1.03 0.0001 Thompson et al., 2013 DNA SEQ PMS2_00619
4 c.287C>A - p.A96D 0.279 39.14 0.5776 Thompson et al., 2013 DNA SEQ PMS2_00621
4 c.287C>G - p.A96G 0.051 3.17 0.0017 Thompson et al., 2013 DNA SEQ PMS2_00622
4 c.287C>T - p.A96V 0.100 7.27 0.0138 Thompson et al., 2013 DNA SEQ PMS2_00623
4 c.289G>A - p.D97N 0.995 13.97 0.7358 Thompson et al., 2013 DNA SEQ PMS2_00625
4 c.289G>C - p.D97H 0.998 20.32 0.8685 Thompson et al., 2013 DNA SEQ PMS2_00624
4 c.289G>T - p.D97Y 0.999 21.06 0.8780 Thompson et al., 2013 DNA SEQ PMS2_00626
4 c.290A>C - p.D97A 0.995 29.51 0.9383 Thompson et al., 2013 DNA SEQ PMS2_00627
4 c.290A>G - p.D97G 0.998 20.85 0.8750 Thompson et al., 2013 DNA SEQ PMS2_00628
4 c.290A>T - p.D97V 0.998 22.25 0.8903 Thompson et al., 2013 DNA SEQ PMS2_00629
4 c.291C>A - p.D97E 0.971 23.98 0.8956 Thompson et al., 2013 DNA SEQ PMS2_00631
4 c.291C>G - p.D97E 0.971 23.98 0.8956 Thompson et al., 2013 DNA SEQ PMS2_00630
4 c.292C>A - p.L98I 0.997 15.46 0.7796 Thompson et al., 2013 DNA SEQ PMS2_00632
4 c.292C>G - p.L98V 0.993 25.80 0.9175 Thompson et al., 2013 DNA SEQ PMS2_00633
4 c.293T>A - p.L98Q 0.999 15.01 0.7693 Thompson et al., 2013 DNA SEQ PMS2_00635
4 c.293T>C - p.L98P 1.000 36.32 0.9614 Thompson et al., 2013 DNA SEQ PMS2_00634
4 c.293T>G - p.L98R 0.999 33.02 0.9523 Thompson et al., 2013 DNA SEQ PMS2_00636
4 c.295A>C - p.T99P 0.110 7.42 0.0150 Thompson et al., 2013 DNA SEQ PMS2_00638
4 c.295A>G - p.T99A 0.161 4.32 0.0055 Thompson et al., 2013 DNA SEQ PMS2_00637
4 c.295A>T - p.T99S 0.364 1.47 0.0011 Thompson et al., 2013 DNA SEQ PMS2_00639
4 c.296C>A - p.T99N 0.811 2.38 0.0224 Thompson et al., 2013 DNA SEQ PMS2_00641
4 c.296C>G - p.T99S 0.364 1.47 0.0011 Thompson et al., 2013 DNA SEQ PMS2_00642
4 c.296C>T - p.T99I 0.059 2.23 0.0008 Thompson et al., 2013 DNA SEQ PMS2_00640
4 c.298C>A - p.Q100K 0.047 6.37 0.0082 Thompson et al., 2013 DNA SEQ PMS2_00644
4 c.298C>G - p.Q100E 0.016 7.25 0.0096 Thompson et al., 2013 DNA SEQ PMS2_00643
4 c.299A>C - p.Q100P 0.219 9.00 0.0363 Thompson et al., 2013 DNA SEQ PMS2_00646
4 c.299A>G - p.Q100R 0.023 8.06 0.0126 Thompson et al., 2013 DNA SEQ PMS2_00647
4 c.299A>T - p.Q100L 0.047 2.67 0.0011 Thompson et al., 2013 DNA SEQ PMS2_00645
4 c.300G>C - p.Q100H 0.002 2.40 0.0007 Thompson et al., 2013 DNA SEQ PMS2_00648
4 c.300G>T - p.Q100H 0.002 2.40 0.0007 Thompson et al., 2013 DNA SEQ PMS2_00649
4 c.301G>A - p.V101I 0.904 11.96 0.5706 Thompson et al., 2013 DNA SEQ PMS2_00651
4 c.301G>C - p.V101L 0.904 20.81 0.8237 Thompson et al., 2013 DNA SEQ PMS2_00652
4 c.301G>T - p.V101F 0.995 21.09 0.8765 Thompson et al., 2013 DNA SEQ PMS2_00650
4 c.302T>A - p.V101D 0.994 33.13 0.9517 Thompson et al., 2013 DNA SEQ PMS2_00654
4 c.302T>C - p.V101A 0.987 27.75 0.9275 Thompson et al., 2013 DNA SEQ PMS2_00653
4 c.302T>G - p.V101G 0.996 23.22 0.8986 Thompson et al., 2013 DNA SEQ PMS2_00655
4 c.304G>A - p.E102K 0.685 18.19 0.5752 Thompson et al., 2013 DNA SEQ PMS2_00656
4 c.304G>C - p.E102Q 0.817 13.74 0.5569 Thompson et al., 2013 DNA SEQ PMS2_00657
4 c.305A>C - p.E102A 0.143 23.15 0.1887 Thompson et al., 2013 DNA SEQ PMS2_00658
4 c.305A>G - p.E102G 0.777 19.54 0.7021 Thompson et al., 2013 DNA SEQ PMS2_00659
4 c.305A>T - p.E102V 0.614 24.05 0.6535 Thompson et al., 2013 DNA SEQ PMS2_00660
4 c.306A>C - p.E102D 0.373 4.93 0.0182 Thompson et al., 2013 DNA SEQ PMS2_00661
4 c.306A>T - p.E102D 0.373 4.93 0.0182 Thompson et al., 2013 DNA SEQ PMS2_00662
4 c.307A>C - p.T103P 0.999 43.72 0.9742 Thompson et al., 2013 DNA SEQ PMS2_00664
4 c.307A>G - p.T103A 0.994 37.99 0.9641 Thompson et al., 2013 DNA SEQ PMS2_00663
4 c.307A>T - p.T103S 0.996 11.33 0.6349 Thompson et al., 2013 DNA SEQ PMS2_00665
4 c.308C>A - p.T103N 0.999 20.18 0.8672 Thompson et al., 2013 DNA SEQ PMS2_00667
4 c.308C>G - p.T103S 0.996 11.33 0.6349 Thompson et al., 2013 DNA SEQ PMS2_00668
4 c.308C>T - p.T103I 1.000 33.48 0.9539 Thompson et al., 2013 DNA SEQ PMS2_00666
4 c.310T>A - p.F104I 0.997 10.86 0.6133 Thompson et al., 2013 DNA SEQ PMS2_00669
4 c.310T>C - p.F104L 0.992 12.82 0.6935 Thompson et al., 2013 DNA SEQ PMS2_00670
4 c.310T>G - p.F104V 0.999 17.61 0.8274 Thompson et al., 2013 DNA SEQ PMS2_00671
4 c.311T>A - p.F104Y 0.995 16.28 0.7977 Thompson et al., 2013 DNA SEQ PMS2_00674
4 c.311T>C - p.F104S 0.999 19.43 0.8570 Thompson et al., 2013 DNA SEQ PMS2_00673
4 c.311T>G - p.F104C 0.999 17.91 0.8328 Thompson et al., 2013 DNA SEQ PMS2_00672
4 c.312T>A - p.F104L 0.992 12.82 0.6935 Thompson et al., 2013 DNA SEQ PMS2_00675
4 c.312T>G - p.F104L 0.992 12.82 0.6935 Thompson et al., 2013 DNA SEQ PMS2_00676
4 c.313G>A - p.G105S 0.980 7.50 0.3890 Thompson et al., 2013 DNA SEQ PMS2_00679
4 c.313G>C - p.G105R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00678
4 c.313G>T - p.G105C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ PMS2_00677
4 c.314G>A - p.G105D 0.999 35.86 0.9601 Thompson et al., 2013 DNA SEQ PMS2_00681
4 c.314G>C - p.G105A 0.992 22.05 0.8857 Thompson et al., 2013 DNA SEQ PMS2_00680
4 c.314G>T - p.G105V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ PMS2_00682
4 c.316T>A - p.F106I 0.994 8.70 0.4863 Thompson et al., 2013 DNA SEQ PMS2_00683
4 c.316T>C - p.F106L 0.984 11.21 0.6173 Thompson et al., 2013 DNA SEQ PMS2_00684
4 c.316T>G - p.F106V 0.997 15.82 0.7884 Thompson et al., 2013 DNA SEQ PMS2_00685
4 c.317T>A - p.F106Y 0.989 6.45 0.3196 Thompson et al., 2013 DNA SEQ PMS2_00688
4 c.317T>C - p.F106S 0.998 16.41 0.8026 Thompson et al., 2013 DNA SEQ PMS2_00687
4 c.317T>G - p.F106C 0.999 16.08 0.7959 Thompson et al., 2013 DNA SEQ PMS2_00686
4 c.318T>A - p.F106L 0.984 11.21 0.6173 Thompson et al., 2013 DNA SEQ PMS2_00689
4 c.318T>G - p.F106L 0.984 11.21 0.6173 Thompson et al., 2013 DNA SEQ PMS2_00690
4 c.319C>G - p.R107G 0.993 25.90 0.9181 Thompson et al., 2013 DNA SEQ PMS2_00691
4 c.319C>T - p.R107W 0.999 22.31 0.8913 Thompson et al., 2013 DNA SEQ PMS2_00692
4 c.320G>A - p.R107Q 0.778 14.43 0.5433 Thompson et al., 2013 DNA SEQ PMS2_00695
4 c.320G>C - p.R107P 0.995 40.70 0.9693 Thompson et al., 2013 DNA SEQ PMS2_00694
4 c.320G>T - p.R107L 0.985 19.03 0.8434 Thompson et al., 2013 DNA SEQ PMS2_00693
4 c.322G>A - p.G108R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00696
4 c.322G>C - p.G108R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00697
4 c.322G>T - p.G108W 1.000 22.39 0.8925 Thompson et al., 2013 DNA SEQ PMS2_00698
4 c.323G>A - p.G108E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ PMS2_00700
4 c.323G>C - p.G108A 0.998 22.05 0.8883 Thompson et al., 2013 DNA SEQ PMS2_00699
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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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