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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.323G>T - p.G108V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ PMS2_00701
4 c.325G>A - p.E109K 0.893 19.98 0.8025 Thompson et al., 2013 DNA SEQ PMS2_00702
4 c.325G>C - p.E109Q 0.987 13.20 0.7030 Thompson et al., 2013 DNA SEQ PMS2_00703
4 c.326A>C - p.E109A 0.989 24.45 0.9063 Thompson et al., 2013 DNA SEQ PMS2_00704
4 c.326A>G - p.E109G 0.994 28.23 0.9320 Thompson et al., 2013 DNA SEQ PMS2_00705
4 c.326A>T - p.E109V 0.990 31.34 0.9447 Thompson et al., 2013 DNA SEQ PMS2_00706
4 c.327A>C - p.E109D 0.908 13.31 0.6327 Thompson et al., 2013 DNA SEQ PMS2_00707
4 c.327A>T - p.E109D 0.908 13.31 0.6327 Thompson et al., 2013 DNA SEQ PMS2_00708
4 c.328G>A - p.A110T 0.998 33.24 0.9528 Thompson et al., 2013 DNA SEQ PMS2_00711
4 c.328G>C - p.A110P 0.999 38.15 0.9652 Thompson et al., 2013 DNA SEQ PMS2_00709
4 c.328G>T - p.A110S 0.999 23.39 0.9013 Thompson et al., 2013 DNA SEQ PMS2_00710
4 c.329C>A - p.A110D 0.999 43.15 0.9734 Thompson et al., 2013 DNA SEQ PMS2_00712
4 c.329C>G - p.A110G 0.996 22.29 0.8899 Thompson et al., 2013 DNA SEQ PMS2_00713
4 c.329C>T - p.A110V 0.999 35.49 0.9592 Thompson et al., 2013 DNA SEQ PMS2_00714
4 c.331C>A - p.L111M 1.000 10.65 0.6058 Thompson et al., 2013 DNA SEQ PMS2_00715
4 c.331C>G - p.L111V 0.996 25.80 0.9184 Thompson et al., 2013 DNA SEQ PMS2_00716
4 c.332T>A - p.L111Q 1.000 15.01 0.7701 Thompson et al., 2013 DNA SEQ PMS2_00718
4 c.332T>C - p.L111P 1.000 36.32 0.9614 Thompson et al., 2013 DNA SEQ PMS2_00717
4 c.332T>G - p.L111R 1.000 33.02 0.9525 Thompson et al., 2013 DNA SEQ PMS2_00719
4 c.334A>C - p.S112R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ PMS2_00722
4 c.334A>G - p.S112G 0.998 9.08 0.5148 Thompson et al., 2013 DNA SEQ PMS2_00721
4 c.334A>T - p.S112C 1.000 20.41 0.8706 Thompson et al., 2013 DNA SEQ PMS2_00720
4 c.335G>A - p.S112N 0.997 14.09 0.7412 Thompson et al., 2013 DNA SEQ PMS2_00724
4 c.335G>C - p.S112T 0.943 13.44 0.6715 Thompson et al., 2013 DNA SEQ PMS2_00725
4 c.335G>T - p.S112I 1.000 29.33 0.9387 Thompson et al., 2013 DNA SEQ PMS2_00723
4 c.336C>A - p.S112R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ PMS2_00727
4 c.336C>G - p.S112R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ PMS2_00726
4 c.337T>A - p.S113T 0.997 13.44 0.7202 Thompson et al., 2013 DNA SEQ PMS2_00730
4 c.337T>C - p.S113P 0.999 39.26 0.9673 Thompson et al., 2013 DNA SEQ PMS2_00729
4 c.337T>G - p.S113A 0.996 28.89 0.9357 Thompson et al., 2013 DNA SEQ PMS2_00728
4 c.338C>T - p.S113L 1.000 28.64 0.9356 Thompson et al., 2013 DNA SEQ PMS2_00731
4 c.340C>A - p.L114I 0.999 15.46 0.7810 Thompson et al., 2013 DNA SEQ PMS2_00733
4 c.340C>G - p.L114V 0.998 25.80 0.9191 Thompson et al., 2013 DNA SEQ PMS2_00734
4 c.340C>T - p.L114F 1.000 12.59 0.6920 Thompson et al., 2013 DNA SEQ PMS2_00732
4 c.341T>A - p.L114H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ PMS2_00735
4 c.341T>C - p.L114P 1.000 36.32 0.9614 Thompson et al., 2013 DNA SEQ PMS2_00736
4 c.341T>G - p.L114R 1.000 33.02 0.9525 Thompson et al., 2013 DNA SEQ PMS2_00737
4 c.343T>A - p.C115S 1.000 14.04 0.7421 Thompson et al., 2013 DNA SEQ PMS2_00740
4 c.343T>C - p.C115R 1.000 34.86 0.9578 Thompson et al., 2013 DNA SEQ PMS2_00739
4 c.343T>G - p.C115G 1.000 15.41 0.7805 Thompson et al., 2013 DNA SEQ PMS2_00738
4 c.344G>A - p.C115Y 1.000 21.23 0.8804 Thompson et al., 2013 DNA SEQ PMS2_00743
4 c.344G>C - p.C115S 1.000 14.04 0.7421 Thompson et al., 2013 DNA SEQ PMS2_00742
4 c.344G>T - p.C115F 1.000 21.32 0.8814 Thompson et al., 2013 DNA SEQ PMS2_00741
4 c.345T>G - p.C115W 1.000 32.95 0.9523 Thompson et al., 2013 DNA SEQ PMS2_00744
4 c.346G>A - p.A116T 0.976 33.24 0.9484 Thompson et al., 2013 DNA SEQ PMS2_00747
4 c.346G>C - p.A116P 0.995 38.15 0.9646 Thompson et al., 2013 DNA SEQ PMS2_00745
4 c.346G>T - p.A116S 0.987 23.39 0.8966 Thompson et al., 2013 DNA SEQ PMS2_00746
4 c.347C>A - p.A116E 0.994 37.64 0.9634 Thompson et al., 2013 DNA SEQ PMS2_00748
4 c.347C>G - p.A116G 0.965 22.29 0.8762 Thompson et al., 2013 DNA SEQ PMS2_00749
4 c.347C>T - p.A116V 0.945 35.49 0.9492 Thompson et al., 2013 DNA SEQ PMS2_00750
4 c.349C>A - p.L117M 0.994 10.29 0.5808 Thompson et al., 2013 DNA SEQ PMS2_00751
4 c.349C>G - p.L117V 0.945 8.70 0.4345 Thompson et al., 2013 DNA SEQ PMS2_00752
4 c.350T>A - p.L117Q 0.994 18.21 0.8351 Thompson et al., 2013 DNA SEQ PMS2_00754
4 c.350T>C - p.L117P 0.997 21.64 0.8835 Thompson et al., 2013 DNA SEQ PMS2_00753
4 c.350T>G - p.L117R 0.995 35.15 0.9577 Thompson et al., 2013 DNA SEQ PMS2_00755
4 c.352A>C - p.S118R 0.979 37.26 0.9602 Thompson et al., 2013 DNA SEQ PMS2_00758
4 c.352A>G - p.S118G 0.761 6.66 0.1606 Thompson et al., 2013 DNA SEQ PMS2_00757
4 c.352A>T - p.S118C 0.977 3.23 0.0850 Thompson et al., 2013 DNA SEQ PMS2_00756
4 c.353G>A - p.S118N 0.257 12.97 0.0921 Thompson et al., 2013 DNA SEQ PMS2_00760
4 c.353G>C - p.S118T 0.693 3.79 0.0383 Thompson et al., 2013 DNA SEQ PMS2_00761
4 c.353G>T - p.S118I 0.988 13.31 0.7078 Thompson et al., 2013 DNA SEQ PMS2_00759
5 c.354C>A - p.S118R 0.979 37.26 0.9602 Thompson et al., 2013 DNA SEQ PMS2_00762
5 c.354C>G - p.S118R 0.979 37.26 0.9602 Thompson et al., 2013 DNA SEQ PMS2_00763
5 c.355G>A - p.D119N 0.985 14.14 0.7329 Thompson et al., 2013 DNA SEQ PMS2_00765
5 c.355G>C - p.D119H 0.590 18.73 0.4912 Thompson et al., 2013 DNA SEQ PMS2_00764
5 c.355G>T - p.D119Y 0.991 15.24 0.7694 Thompson et al., 2013 DNA SEQ PMS2_00766
5 c.356A>C - p.D119A 0.985 22.08 0.8830 Thompson et al., 2013 DNA SEQ PMS2_00767
5 c.356A>G - p.D119G 0.993 18.57 0.8405 Thompson et al., 2013 DNA SEQ PMS2_00768
5 c.356A>T - p.D119V 0.993 23.29 0.8981 Thompson et al., 2013 DNA SEQ PMS2_00769
5 c.357T>A - p.D119E 0.923 4.87 0.1578 Thompson et al., 2013 DNA SEQ PMS2_00771
5 c.357T>G - p.D119E 0.923 4.87 0.1578 Thompson et al., 2013 DNA SEQ PMS2_00770
5 c.358G>A - p.V120I 0.592 1.42 0.0028 Thompson et al., 2013 DNA SEQ PMS2_00773
5 c.358G>C - p.V120L 0.120 3.02 0.0021 Thompson et al., 2013 DNA SEQ PMS2_00774
5 c.358G>T - p.V120F 0.977 7.39 0.3781 Thompson et al., 2013 DNA SEQ PMS2_00772
5 c.359T>A - p.V120D 0.998 39.24 0.9671 Thompson et al., 2013 DNA SEQ PMS2_00776
5 c.359T>C - p.V120A 0.905 8.88 0.4043 Thompson et al., 2013 DNA SEQ PMS2_00775
5 c.359T>G - p.V120G 0.998 15.19 0.7734 Thompson et al., 2013 DNA SEQ PMS2_00777
5 c.361A>C - p.T121P 0.847 9.96 0.4076 Thompson et al., 2013 DNA SEQ PMS2_00779
5 c.361A>G - p.T121A 0.295 6.26 0.0223 Thompson et al., 2013 DNA SEQ PMS2_00778
5 c.361A>T - p.T121S 0.026 1.35 0.0002 Thompson et al., 2013 DNA SEQ PMS2_00780
5 c.362C>A - p.T121N 0.847 8.98 0.3523 Thompson et al., 2013 DNA SEQ PMS2_00782
5 c.362C>G - p.T121S 0.026 1.35 0.0002 Thompson et al., 2013 DNA SEQ PMS2_00783
5 c.362C>T - p.T121I 0.933 3.22 0.0710 Thompson et al., 2013 DNA SEQ PMS2_00781
5 c.364A>C - p.I122L 0.892 10.19 0.4674 Thompson et al., 2013 DNA SEQ PMS2_00785
5 c.364A>G - p.I122V 0.042 5.08 0.0048 Thompson et al., 2013 DNA SEQ PMS2_00786
5 c.364A>T - p.I122F 0.975 8.73 0.4681 Thompson et al., 2013 DNA SEQ PMS2_00784
5 c.365T>A - p.I122N 1.000 15.28 0.7772 Thompson et al., 2013 DNA SEQ PMS2_00787
5 c.365T>C - p.I122T 0.996 13.95 0.7360 Thompson et al., 2013 DNA SEQ PMS2_00789
5 c.365T>G - p.I122S 0.999 13.26 0.7157 Thompson et al., 2013 DNA SEQ PMS2_00788
5 c.366T>G - p.I122M 0.973 14.78 0.7424 Thompson et al., 2013 DNA SEQ PMS2_00790
5 c.367T>A - p.S123T 0.386 1.51 0.0013 Thompson et al., 2013 DNA SEQ PMS2_00793
5 c.367T>C - p.S123P 0.894 14.14 0.6506 Thompson et al., 2013 DNA SEQ PMS2_00792
5 c.367T>G - p.S123A 0.515 7.49 0.0805 Thompson et al., 2013 DNA SEQ PMS2_00791
5 c.368C>A - p.S123Y 0.927 5.12 0.1760 Thompson et al., 2013 DNA SEQ PMS2_00796
5 c.368C>G - p.S123C 0.902 0.77 0.0026 Thompson et al., 2013 DNA SEQ PMS2_00794
5 c.368C>T - p.S123F 0.642 6.39 0.0949 Thompson et al., 2013 DNA SEQ PMS2_00795
5 c.370A>C - p.T124P 0.999 43.72 0.9742 Thompson et al., 2013 DNA SEQ PMS2_00798
5 c.370A>G - p.T124A 0.994 37.99 0.9641 Thompson et al., 2013 DNA SEQ PMS2_00797
5 c.370A>T - p.T124S 0.996 11.33 0.6349 Thompson et al., 2013 DNA SEQ PMS2_00799
5 c.371C>A - p.T124N 0.999 20.18 0.8672 Thompson et al., 2013 DNA SEQ PMS2_00801
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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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