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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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5 c.371C>G - p.T124S 0.996 11.33 0.6349 Thompson et al., 2013 DNA SEQ PMS2_00802
5 c.371C>T - p.T124I 1.000 33.48 0.9539 Thompson et al., 2013 DNA SEQ PMS2_00800
5 c.373T>A - p.C125S 0.999 2.44 0.0512 Thompson et al., 2013 DNA SEQ PMS2_00805
5 c.373T>C - p.C125R 1.000 5.13 0.2265 Thompson et al., 2013 DNA SEQ PMS2_00804
5 c.373T>G - p.C125G 1.000 3.51 0.1101 Thompson et al., 2013 DNA SEQ PMS2_00803
5 c.374G>A - p.C125Y 1.000 3.71 0.1230 Thompson et al., 2013 DNA SEQ PMS2_00808
5 c.374G>C - p.C125S 0.999 2.44 0.0512 Thompson et al., 2013 DNA SEQ PMS2_00807
5 c.374G>T - p.C125F 1.000 3.21 0.0917 Thompson et al., 2013 DNA SEQ PMS2_00806
5 c.375C>G - p.C125W 1.000 5.53 0.2577 Thompson et al., 2013 DNA SEQ PMS2_00809
5 c.376C>A - p.H126N 0.999 7.20 0.3863 Thompson et al., 2013 DNA SEQ PMS2_00811
5 c.376C>G - p.H126D 0.999 14.39 0.7519 Thompson et al., 2013 DNA SEQ PMS2_00810
5 c.376C>T - p.H126Y 0.999 8.30 0.4650 Thompson et al., 2013 DNA SEQ PMS2_00812
5 c.377A>C - p.H126P 1.000 15.93 0.7931 Thompson et al., 2013 DNA SEQ PMS2_00814
5 c.377A>G - p.H126R 0.999 11.72 0.6554 Thompson et al., 2013 DNA SEQ PMS2_00815
5 c.377A>T - p.H126L 0.999 5.60 0.2624 Thompson et al., 2013 DNA SEQ PMS2_00813
5 c.378C>A - p.H126Q 0.999 4.70 0.1929 Thompson et al., 2013 DNA SEQ PMS2_00816
5 c.378C>G - p.H126Q 0.999 4.70 0.1929 Thompson et al., 2013 DNA SEQ PMS2_00817
5 c.379G>A - p.A127T 0.000 3.51 0.0017 Thompson et al., 2013 DNA SEQ PMS2_00820
5 c.379G>C - p.A127P 0.131 6.58 0.0126 Thompson et al., 2013 DNA SEQ PMS2_00818
5 c.379G>T - p.A127S 0.004 2.62 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00819
5 c.380C>A - p.A127E 0.006 3.30 0.0016 Thompson et al., 2013 DNA SEQ PMS2_00821
5 c.380C>G - p.A127G 0.001 3.34 0.0016 Thompson et al., 2013 DNA SEQ PMS2_00822
5 c.380C>T - p.A127V 0.001 4.19 0.0026 Thompson et al., 2013 DNA SEQ PMS2_00823
5 c.382T>A - p.S128T 0.068 3.21 0.0019 Thompson et al., 2013 DNA SEQ PMS2_00826
5 c.382T>C - p.S128P 0.935 9.67 0.4835 Thompson et al., 2013 DNA SEQ PMS2_00825
5 c.382T>G - p.S128A 0.686 5.76 0.0909 Thompson et al., 2013 DNA SEQ PMS2_00824
5 c.383C>G - p.S128W 0.998 11.39 0.6396 Thompson et al., 2013 DNA SEQ PMS2_00828
5 c.383C>T - p.S128L 0.963 8.03 0.4088 Thompson et al., 2013 DNA SEQ PMS2_00827
5 c.385G>A - p.A129T 0.077 9.27 0.0215 Thompson et al., 2013 DNA SEQ PMS2_00831
5 c.385G>C - p.A129P 0.516 20.56 0.4653 Thompson et al., 2013 DNA SEQ PMS2_00829
5 c.385G>T - p.A129S 0.031 7.83 0.0122 Thompson et al., 2013 DNA SEQ PMS2_00830
5 c.386C>A - p.A129E 0.539 25.69 0.6142 Thompson et al., 2013 DNA SEQ PMS2_00832
5 c.386C>G - p.A129G 0.133 10.02 0.0322 Thompson et al., 2013 DNA SEQ PMS2_00833
5 c.386C>T - p.A129V 0.008 8.73 0.0141 Thompson et al., 2013 DNA SEQ PMS2_00834
5 c.388A>C - p.K130Q 0.018 3.11 0.0014 Thompson et al., 2013 DNA SEQ PMS2_00836
5 c.388A>G - p.K130E 0.122 6.11 0.0102 Thompson et al., 2013 DNA SEQ PMS2_00835
5 c.389A>C - p.K130T 0.032 2.41 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00839
5 c.389A>G - p.K130R 0.193 3.30 0.0034 Thompson et al., 2013 DNA SEQ PMS2_00838
5 c.389A>T - p.K130M 0.538 4.38 0.0278 Thompson et al., 2013 DNA SEQ PMS2_00837
5 c.390G>C - p.K130N 0.436 2.48 0.0051 Thompson et al., 2013 DNA SEQ PMS2_00840
5 c.390G>T - p.K130N 0.436 2.48 0.0051 Thompson et al., 2013 DNA SEQ PMS2_00841
5 c.391G>A - p.V131I 0.033 2.41 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00843
5 c.391G>C - p.V131L 0.171 4.08 0.0051 Thompson et al., 2013 DNA SEQ PMS2_00844
5 c.391G>T - p.V131F 0.860 4.79 0.1213 Thompson et al., 2013 DNA SEQ PMS2_00842
5 c.392T>A - p.V131D 0.921 33.80 0.9379 Thompson et al., 2013 DNA SEQ PMS2_00846
5 c.392T>C - p.V131A 0.799 4.83 0.0978 Thompson et al., 2013 DNA SEQ PMS2_00845
5 c.392T>G - p.V131G 0.962 4.86 0.1805 Thompson et al., 2013 DNA SEQ PMS2_00847
5 c.394G>A - p.G132R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00849
5 c.394G>C - p.G132R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ PMS2_00848
5 c.395G>A - p.G132E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ PMS2_00851
5 c.395G>C - p.G132A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ PMS2_00850
5 c.395G>T - p.G132V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ PMS2_00852
5 c.397A>C - p.T133P 0.997 12.31 0.6783 Thompson et al., 2013 DNA SEQ PMS2_00854
5 c.397A>G - p.T133A 0.716 9.44 0.2585 Thompson et al., 2013 DNA SEQ PMS2_00853
5 c.397A>T - p.T133S 0.920 2.50 0.0391 Thompson et al., 2013 DNA SEQ PMS2_00855
5 c.398C>A - p.T133N 0.997 5.98 0.2905 Thompson et al., 2013 DNA SEQ PMS2_00857
5 c.398C>G - p.T133S 0.920 2.50 0.0391 Thompson et al., 2013 DNA SEQ PMS2_00858
5 c.398C>T - p.T133I 0.997 7.37 0.3968 Thompson et al., 2013 DNA SEQ PMS2_00856
5 c.400C>G - p.R134G 0.994 23.41 0.8995 Thompson et al., 2013 DNA SEQ PMS2_00859
5 c.401G>A - p.R134Q 0.970 10.69 0.5770 Thompson et al., 2013 DNA SEQ PMS2_00862
5 c.401G>C - p.R134P 0.996 27.53 0.9288 Thompson et al., 2013 DNA SEQ PMS2_00861
5 c.401G>T - p.R134L 0.992 20.66 0.8699 Thompson et al., 2013 DNA SEQ PMS2_00860
5 c.403C>A - p.L135M 1.000 6.94 0.3676 Thompson et al., 2013 DNA SEQ PMS2_00863
5 c.403C>G - p.L135V 0.996 25.13 0.9139 Thompson et al., 2013 DNA SEQ PMS2_00864
5 c.404T>A - p.L135Q 1.000 11.81 0.6603 Thompson et al., 2013 DNA SEQ PMS2_00866
5 c.404T>C - p.L135P 1.000 36.53 0.9619 Thompson et al., 2013 DNA SEQ PMS2_00865
5 c.404T>G - p.L135R 1.000 37.00 0.9629 Thompson et al., 2013 DNA SEQ PMS2_00867
5 c.406A>C - p.M136L 0.005 5.02 0.0040 Thompson et al., 2013 DNA SEQ PMS2_00868
5 c.406A>G - p.M136V 0.000 0.78 0.0001 Thompson et al., 2013 DNA SEQ PMS2_00870
5 c.406A>T - p.M136L 0.005 5.02 0.0040 Thompson et al., 2013 DNA SEQ PMS2_00869
5 c.407T>A - p.M136K 0.036 5.14 0.0048 Thompson et al., 2013 DNA SEQ PMS2_00871
5 c.407T>C - p.M136T 0.019 2.94 0.0013 Thompson et al., 2013 DNA SEQ PMS2_00873
5 c.407T>G - p.M136R 0.059 5.74 0.0068 Thompson et al., 2013 DNA SEQ PMS2_00872
5 c.408G>A - p.M136I 0.005 3.23 0.0015 Thompson et al., 2013 DNA SEQ PMS2_00876
5 c.408G>C - p.M136I 0.005 3.23 0.0015 Thompson et al., 2013 DNA SEQ PMS2_00875
5 c.408G>T - p.M136I 0.005 3.23 0.0015 Thompson et al., 2013 DNA SEQ PMS2_00874
5 c.409T>A - p.F137I 0.782 8.13 0.2475 Thompson et al., 2013 DNA SEQ PMS2_00877
5 c.409T>C - p.F137L 0.185 11.56 0.0544 Thompson et al., 2013 DNA SEQ PMS2_00878
5 c.409T>G - p.F137V 0.921 14.39 0.6849 Thompson et al., 2013 DNA SEQ PMS2_00879
5 c.410T>A - p.F137Y 0.087 2.76 0.0015 Thompson et al., 2013 DNA SEQ PMS2_00882
5 c.410T>C - p.F137S 0.997 16.52 0.8043 Thompson et al., 2013 DNA SEQ PMS2_00881
5 c.410T>G - p.F137C 0.975 14.74 0.7429 Thompson et al., 2013 DNA SEQ PMS2_00880
5 c.411T>A - p.F137L 0.185 11.56 0.0544 Thompson et al., 2013 DNA SEQ PMS2_00883
5 c.411T>G - p.F137L 0.185 11.56 0.0544 Thompson et al., 2013 DNA SEQ PMS2_00884
5 c.412G>A - p.D138N 0.998 4.01 0.1423 Thompson et al., 2013 DNA SEQ PMS2_00886
5 c.412G>C - p.D138H 0.999 10.23 0.5828 Thompson et al., 2013 DNA SEQ PMS2_00885
5 c.412G>T - p.D138Y 1.000 17.91 0.8334 Thompson et al., 2013 DNA SEQ PMS2_00887
5 c.413A>C - p.D138A 0.998 22.95 0.8970 Thompson et al., 2013 DNA SEQ PMS2_00888
5 c.413A>G - p.D138G 0.999 17.80 0.8308 Thompson et al., 2013 DNA SEQ PMS2_00889
5 c.413A>T - p.D138V 0.999 28.76 0.9359 Thompson et al., 2013 DNA SEQ PMS2_00890
5 c.414T>A - p.D138E 0.992 21.52 0.8800 Thompson et al., 2013 DNA SEQ PMS2_00891
5 c.414T>G - p.D138E 0.992 21.52 0.8800 Thompson et al., 2013 DNA SEQ PMS2_00892
5 c.415C>A - p.H139N 0.997 13.42 0.7195 Thompson et al., 2013 DNA SEQ PMS2_00894
5 c.415C>G - p.H139D 0.999 17.55 0.8263 Thompson et al., 2013 DNA SEQ PMS2_00893
5 c.415C>T - p.H139Y 0.998 13.89 0.7358 Thompson et al., 2013 DNA SEQ PMS2_00895
5 c.416A>C - p.H139P 0.999 28.47 0.9345 Thompson et al., 2013 DNA SEQ PMS2_00897
5 c.416A>G - p.H139R 0.997 6.89 0.3609 Thompson et al., 2013 DNA SEQ PMS2_00898
5 c.416A>T - p.H139L 0.998 22.47 0.8925 Thompson et al., 2013 DNA SEQ PMS2_00896
5 c.417C>A - p.H139Q 0.998 8.66 0.4879 Thompson et al., 2013 DNA SEQ PMS2_00899
5 c.417C>G - p.H139Q 0.998 8.66 0.4879 Thompson et al., 2013 DNA SEQ PMS2_00900
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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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