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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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1 c.4G>A - p.E2K 0.925 2.85 0.0530 Thompson et al., 2013 DNA SEQ PMS2_00001
1 c.4G>C - p.E2Q 0.948 1.88 0.0235 Thompson et al., 2013 DNA SEQ PMS2_00002
1 c.5A>C - p.E2A 0.925 2.92 0.0559 Thompson et al., 2013 DNA SEQ PMS2_00003
1 c.5A>G - p.E2G 0.948 2.89 0.0599 Thompson et al., 2013 DNA SEQ PMS2_00004
1 c.5A>T - p.E2V 0.971 7.68 0.3927 Thompson et al., 2013 DNA SEQ PMS2_00005
1 c.6G>C - p.E2D 0.875 3.48 0.0665 Thompson et al., 2013 DNA SEQ PMS2_00007
1 c.6G>T - p.E2D 0.875 3.48 0.0665 Thompson et al., 2013 DNA SEQ PMS2_00006
1 c.7C>G - p.R3G 0.031 3.85 0.0025 Thompson et al., 2013 DNA SEQ PMS2_00008
1 c.8G>A - p.R3Q 0.003 1.95 0.0005 Thompson et al., 2013 DNA SEQ PMS2_00011
1 c.8G>C - p.R3P 0.000 8.12 0.0116 Thompson et al., 2013 DNA SEQ PMS2_00010
1 c.8G>T - p.R3L 0.031 3.98 0.0026 Thompson et al., 2013 DNA SEQ PMS2_00009
1 c.10G>A - p.A4T 0.003 3.69 0.0020 Thompson et al., 2013 DNA SEQ PMS2_00014
1 c.10G>C - p.A4P 0.003 6.69 0.0076 Thompson et al., 2013 DNA SEQ PMS2_00012
1 c.10G>T - p.A4S 0.008 2.52 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00013
1 c.11C>A - p.A4D 0.153 3.93 0.0043 Thompson et al., 2013 DNA SEQ PMS2_00015
1 c.11C>G - p.A4G 0.065 3.06 0.0017 Thompson et al., 2013 DNA SEQ PMS2_00016
1 c.11C>T - p.A4V 0.076 3.88 0.0030 Thompson et al., 2013 DNA SEQ PMS2_00017
1 c.13G>A - p.E5K 0.022 - 0.0029 Thompson et al., 2013 DNA SEQ PMS2_00018
1 c.13G>C - p.E5Q 0.056 - 0.0038 Thompson et al., 2013 DNA SEQ PMS2_00019
1 c.14A>C - p.E5A 0.007 - 0.0025 Thompson et al., 2013 DNA SEQ PMS2_00020
1 c.14A>G - p.E5G 0.001 - 0.0024 Thompson et al., 2013 DNA SEQ PMS2_00021
1 c.14A>T - p.E5V 0.062 - 0.0040 Thompson et al., 2013 DNA SEQ PMS2_00022
1 c.15G>C - p.E5D 0.001 - 0.0024 Thompson et al., 2013 DNA SEQ PMS2_00024
1 c.15G>T - p.E5D 0.001 - 0.0024 Thompson et al., 2013 DNA SEQ PMS2_00023
1 c.16A>C - p.S6R 0.054 - 0.0038 Thompson et al., 2013 DNA SEQ PMS2_00027
1 c.16A>G - p.S6G 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ PMS2_00026
1 c.16A>T - p.S6C 0.158 - 0.0090 Thompson et al., 2013 DNA SEQ PMS2_00025
1 c.17G>A - p.S6N 0.023 - 0.0029 Thompson et al., 2013 DNA SEQ PMS2_00029
1 c.17G>C - p.S6T 0.013 - 0.0027 Thompson et al., 2013 DNA SEQ PMS2_00030
1 c.17G>T - p.S6I 0.094 - 0.0053 Thompson et al., 2013 DNA SEQ PMS2_00028
1 c.18C>A - p.S6R 0.054 - 0.0038 Thompson et al., 2013 DNA SEQ PMS2_00031
1 c.18C>G - p.S6R 0.054 - 0.0038 Thompson et al., 2013 DNA SEQ PMS2_00032
1 c.19T>A - p.S7T 0.012 - 0.0026 Thompson et al., 2013 DNA SEQ PMS2_00035
1 c.19T>C - p.S7P 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ PMS2_00034
1 c.19T>G - p.S7A 0.001 - 0.0024 Thompson et al., 2013 DNA SEQ PMS2_00033
1 c.20C>G - p.S7W 0.013 - 0.0027 Thompson et al., 2013 DNA SEQ PMS2_00037
1 c.20C>T - p.S7L 0.018 - 0.0028 Thompson et al., 2013 DNA SEQ PMS2_00036
1 c.22A>C - p.S8R 0.432 24.11 0.4663 Thompson et al., 2013 DNA SEQ PMS2_00040
1 c.22A>G - p.S8G 0.006 2.57 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00039
1 c.22A>T - p.S8C 0.018 2.42 0.0008 Thompson et al., 2013 DNA SEQ PMS2_00038
1 c.23G>A - p.S8N 0.200 4.04 0.0056 Thompson et al., 2013 DNA SEQ PMS2_00042
1 c.23G>C - p.S8T 0.004 2.90 0.0012 Thompson et al., 2013 DNA SEQ PMS2_00043
1 c.23G>T - p.S8I 0.314 4.31 0.0105 Thompson et al., 2013 DNA SEQ PMS2_00041
2 c.24T>A - p.S8R 0.432 24.11 0.4663 Thompson et al., 2013 DNA SEQ PMS2_00045
2 c.24T>G - p.S8R 0.432 24.11 0.4663 Thompson et al., 2013 DNA SEQ PMS2_00044
2 c.25A>C - p.T9P 0.011 5.79 0.0057 Thompson et al., 2013 DNA SEQ PMS2_00047
2 c.25A>G - p.T9A 0.046 3.95 0.0028 Thompson et al., 2013 DNA SEQ PMS2_00046
2 c.25A>T - p.T9S 0.003 1.38 0.0002 Thompson et al., 2013 DNA SEQ PMS2_00048
2 c.26C>A - p.T9K 0.079 4.24 0.0037 Thompson et al., 2013 DNA SEQ PMS2_00050
2 c.26C>G - p.T9R 0.005 4.89 0.0038 Thompson et al., 2013 DNA SEQ PMS2_00051
2 c.26C>T - p.T9I 0.079 3.26 0.0021 Thompson et al., 2013 DNA SEQ PMS2_00049
2 c.28G>A - p.E10K 0.381 5.75 0.0264 Thompson et al., 2013 DNA SEQ PMS2_00052
2 c.28G>C - p.E10Q 0.191 3.03 0.0028 Thompson et al., 2013 DNA SEQ PMS2_00053
2 c.29A>C - p.E10A 0.633 6.54 0.0962 Thompson et al., 2013 DNA SEQ PMS2_00054
2 c.29A>G - p.E10G 0.530 10.31 0.1616 Thompson et al., 2013 DNA SEQ PMS2_00055
2 c.29A>T - p.E10V 0.813 5.36 0.1273 Thompson et al., 2013 DNA SEQ PMS2_00056
2 c.30A>C - p.E10D 0.026 5.28 0.0049 Thompson et al., 2013 DNA SEQ PMS2_00057
2 c.30A>T - p.E10D 0.026 5.28 0.0049 Thompson et al., 2013 DNA SEQ PMS2_00058
2 c.31C>A - p.P11T 0.005 2.43 0.0008 Thompson et al., 2013 DNA SEQ PMS2_00061
2 c.31C>G - p.P11A 0.046 2.85 0.0013 Thompson et al., 2013 DNA SEQ PMS2_00059
2 c.31C>T - p.P11S 0.005 2.68 0.0010 Thompson et al., 2013 DNA SEQ PMS2_00060
2 c.32C>A - p.P11H 0.295 2.38 0.0025 Thompson et al., 2013 DNA SEQ PMS2_00062
2 c.32C>G - p.P11R 0.188 5.11 0.0090 Thompson et al., 2013 DNA SEQ PMS2_00064
2 c.32C>T - p.P11L 0.002 2.63 0.0009 Thompson et al., 2013 DNA SEQ PMS2_00063
2 c.34G>A - p.A12T 0.995 33.24 0.9522 Thompson et al., 2013 DNA SEQ PMS2_00067
2 c.34G>C - p.A12P 0.996 38.15 0.9647 Thompson et al., 2013 DNA SEQ PMS2_00065
2 c.34G>T - p.A12S 0.991 23.39 0.8982 Thompson et al., 2013 DNA SEQ PMS2_00066
2 c.35C>A - p.A12D 0.996 43.15 0.9731 Thompson et al., 2013 DNA SEQ PMS2_00068
2 c.35C>G - p.A12G 0.991 22.29 0.8878 Thompson et al., 2013 DNA SEQ PMS2_00069
2 c.35C>T - p.A12V 0.995 35.49 0.9585 Thompson et al., 2013 DNA SEQ PMS2_00070
2 c.37A>C - p.K13Q 0.883 2.54 0.0348 Thompson et al., 2013 DNA SEQ PMS2_00072
2 c.37A>G - p.K13E 0.805 3.82 0.0613 Thompson et al., 2013 DNA SEQ PMS2_00071
2 c.38A>C - p.K13T 0.927 4.00 0.1087 Thompson et al., 2013 DNA SEQ PMS2_00075
2 c.38A>G - p.K13R 0.875 3.22 0.0564 Thompson et al., 2013 DNA SEQ PMS2_00074
2 c.38A>T - p.K13M 0.958 2.99 0.0671 Thompson et al., 2013 DNA SEQ PMS2_00073
2 c.39G>C - p.K13N 0.820 1.80 0.0125 Thompson et al., 2013 DNA SEQ PMS2_00076
2 c.39G>T - p.K13N 0.820 1.80 0.0125 Thompson et al., 2013 DNA SEQ PMS2_00077
2 c.40G>A - p.A14T 0.040 2.98 0.0014 Thompson et al., 2013 DNA SEQ PMS2_00080
2 c.40G>C - p.A14P 0.709 3.39 0.0320 Thompson et al., 2013 DNA SEQ PMS2_00078
2 c.40G>T - p.A14S 0.040 2.00 0.0006 Thompson et al., 2013 DNA SEQ PMS2_00079
2 c.41C>A - p.A14D 0.747 5.91 0.1208 Thompson et al., 2013 DNA SEQ PMS2_00081
2 c.41C>G - p.A14G 0.397 2.14 0.0031 Thompson et al., 2013 DNA SEQ PMS2_00082
2 c.41C>T - p.A14V 0.396 3.21 0.0076 Thompson et al., 2013 DNA SEQ PMS2_00083
2 c.43A>C - p.I15L 0.953 10.22 0.5340 Thompson et al., 2013 DNA SEQ PMS2_00085
2 c.43A>G - p.I15V 0.953 4.86 0.1749 Thompson et al., 2013 DNA SEQ PMS2_00086
2 c.43A>T - p.I15F 0.993 8.74 0.4878 Thompson et al., 2013 DNA SEQ PMS2_00084
2 c.44T>A - p.I15N 0.994 15.25 0.7719 Thompson et al., 2013 DNA SEQ PMS2_00087
2 c.44T>C - p.I15T 0.990 13.86 0.7281 Thompson et al., 2013 DNA SEQ PMS2_00089
2 c.44T>G - p.I15S 0.993 13.20 0.7083 Thompson et al., 2013 DNA SEQ PMS2_00088
2 c.45C>G - p.I15M 0.994 14.77 0.7589 Thompson et al., 2013 DNA SEQ PMS2_00090
2 c.46A>C - p.K16Q 0.589 2.56 0.0104 Thompson et al., 2013 DNA SEQ PMS2_00092
2 c.46A>G - p.K16E 0.440 4.57 0.0203 Thompson et al., 2013 DNA SEQ PMS2_00091
2 c.47A>C - p.K16T 0.704 8.89 0.2242 Thompson et al., 2013 DNA SEQ PMS2_00095
2 c.47A>G - p.K16R 0.032 2.07 0.0006 Thompson et al., 2013 DNA SEQ PMS2_00094
2 c.47A>T - p.K16I 0.812 7.29 0.2259 Thompson et al., 2013 DNA SEQ PMS2_00093
2 c.48A>C - p.K16N 0.589 4.07 0.0292 Thompson et al., 2013 DNA SEQ PMS2_00097
2 c.48A>T - p.K16N 0.589 4.07 0.0292 Thompson et al., 2013 DNA SEQ PMS2_00096
2 c.49C>A - p.P17T 0.501 4.82 0.0294 Thompson et al., 2013 DNA SEQ PMS2_00100
2 c.49C>G - p.P17A 0.048 2.14 0.0007 Thompson et al., 2013 DNA SEQ PMS2_00098
2 c.49C>T - p.P17S 0.377 3.77 0.0101 Thompson et al., 2013 DNA SEQ PMS2_00099
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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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