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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 MSH2_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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1 c.4G>A - p.A2T 0.292 33.24 0.4994 Thompson et al., 2013 DNA SEQ MSH2_00002
1 c.4G>C - p.A2P 0.958 38.15 0.9588 Thompson et al., 2013 DNA SEQ MSH2_00003
1 c.4G>T - p.A2S 0.846 23.39 0.8263 Thompson et al., 2013 DNA SEQ MSH2_00001
1 c.5C>A - p.A2E 0.958 37.64 0.9576 Thompson et al., 2013 DNA SEQ MSH2_00004
1 c.5C>G - p.A2G 0.292 22.29 0.2871 Thompson et al., 2013 DNA SEQ MSH2_00005
1 c.5C>T - p.A2V 0.909 35.49 0.9413 Thompson et al., 2013 DNA SEQ MSH2_00006
1 c.7G>A - p.V3M 0.275 8.83 0.0438 Thompson et al., 2013 DNA SEQ MSH2_00009
1 c.7G>C - p.V3L 0.002 4.21 0.0027 Thompson et al., 2013 DNA SEQ MSH2_00007
1 c.7G>T - p.V3L 0.002 4.21 0.0027 Thompson et al., 2013 DNA SEQ MSH2_00008
1 c.8T>A - p.V3E 0.131 33.45 0.3376 Thompson et al., 2013 DNA SEQ MSH2_00011
1 c.8T>C - p.V3A 0.055 6.07 0.0076 Thompson et al., 2013 DNA SEQ MSH2_00012
1 c.8T>G - p.V3G 0.093 9.02 0.0216 Thompson et al., 2013 DNA SEQ MSH2_00010
1 c.10C>A - p.Q4K 0.028 5.62 0.0057 Thompson et al., 2013 DNA SEQ MSH2_00013
1 c.10C>G - p.Q4E 0.016 4.54 0.0033 Thompson et al., 2013 DNA SEQ MSH2_00014
1 c.11A>C - p.Q4P 0.250 9.57 0.0471 Thompson et al., 2013 DNA SEQ MSH2_00016
1 c.11A>G - p.Q4R 0.184 6.79 0.0168 Thompson et al., 2013 DNA SEQ MSH2_00017
1 c.11A>T - p.Q4L 0.016 10.47 0.0219 Thompson et al., 2013 DNA SEQ MSH2_00015
1 c.12G>C - p.Q4H 0.049 2.96 0.0015 Thompson et al., 2013 DNA SEQ MSH2_00019
1 c.12G>T - p.Q4H 0.049 2.96 0.0015 Thompson et al., 2013 DNA SEQ MSH2_00018
1 c.13C>A - p.P5T 0.667 5.68 0.0820 Thompson et al., 2013 DNA SEQ MSH2_00021
1 c.13C>G - p.P5A 0.523 3.33 0.0142 Thompson et al., 2013 DNA SEQ MSH2_00022
1 c.13C>T - p.P5S 0.109 5.12 0.0065 Thompson et al., 2013 DNA SEQ MSH2_00020
1 c.14C>A - p.P5Q 0.296 8.28 0.0415 Thompson et al., 2013 DNA SEQ MSH2_00023
1 c.14C>G - p.P5R 0.296 30.61 0.4569 Thompson et al., 2013 DNA SEQ MSH2_00025
1 c.14C>T - p.P5L 0.831 5.89 0.1632 Thompson et al., 2013 DNA SEQ MSH2_00024
1 c.16A>C - p.K6Q 0.267 4.32 0.0087 Thompson et al., 2013 DNA SEQ MSH2_00026
1 c.16A>G - p.K6E 0.017 6.91 0.0087 Thompson et al., 2013 DNA SEQ MSH2_00027
1 c.17A>C - p.K6T 0.008 8.30 0.0126 Thompson et al., 2013 DNA SEQ MSH2_00028
1 c.17A>G - p.K6R 0.049 3.45 0.0021 Thompson et al., 2013 DNA SEQ MSH2_00030
1 c.17A>T - p.K6M 0.334 15.19 0.1678 Thompson et al., 2013 DNA SEQ MSH2_00029
1 c.18G>C - p.K6N 0.030 4.36 0.0032 Thompson et al., 2013 DNA SEQ MSH2_00031
1 c.18G>T - p.K6N 0.030 4.36 0.0032 Thompson et al., 2013 DNA SEQ MSH2_00032
1 c.19G>A - p.E7K 0.004 4.19 0.0026 Thompson et al., 2013 DNA SEQ MSH2_00033
1 c.19G>C - p.E7Q 0.002 2.36 0.0007 Thompson et al., 2013 DNA SEQ MSH2_00034
1 c.20A>C - p.E7A 0.006 3.79 0.0021 Thompson et al., 2013 DNA SEQ MSH2_00036
1 c.20A>G - p.E7G 0.018 5.03 0.0043 Thompson et al., 2013 DNA SEQ MSH2_00035
1 c.20A>T - p.E7V 0.031 17.17 0.0682 Thompson et al., 2013 DNA SEQ MSH2_00037
1 c.21G>C - p.E7D 0.001 5.18 0.0042 Thompson et al., 2013 DNA SEQ MSH2_00039
1 c.21G>T - p.E7D 0.001 5.18 0.0042 Thompson et al., 2013 DNA SEQ MSH2_00038
1 c.22A>C - p.T8P 0.001 9.75 0.0175 Thompson et al., 2013 DNA SEQ MSH2_00040
1 c.22A>G - p.T8A 0.003 4.43 0.0030 Thompson et al., 2013 DNA SEQ MSH2_00042
1 c.22A>T - p.T8S 0.001 2.86 0.0011 Thompson et al., 2013 DNA SEQ MSH2_00041
1 c.23C>A - p.T8K 0.012 2.34 0.0007 Thompson et al., 2013 DNA SEQ MSH2_00045
1 c.23C>G - p.T8R 0.001 3.10 0.0013 Thompson et al., 2013 DNA SEQ MSH2_00043
1 c.23C>T - p.T8M 0.042 3.01 0.0015 Thompson et al., 2013 DNA SEQ MSH2_00044
1 c.25C>A - p.L9M 0.807 4.89 0.1035 Thompson et al., 2013 DNA SEQ MSH2_00047
1 c.25C>G - p.L9V 0.558 7.47 0.0946 Thompson et al., 2013 DNA SEQ MSH2_00046
1 c.26T>A - p.L9Q 0.761 14.49 0.5276 Thompson et al., 2013 DNA SEQ MSH2_00050
1 c.26T>C - p.L9P 0.087 19.21 0.1071 Thompson et al., 2013 DNA SEQ MSH2_00049
1 c.26T>G - p.L9R 0.247 42.44 0.5891 Thompson et al., 2013 DNA SEQ MSH2_00048
1 c.28C>A - p.Q10K 0.001 23.34 0.1146 Thompson et al., 2013 DNA SEQ MSH2_00051
1 c.28C>G - p.Q10E 0.002 23.95 0.1211 Thompson et al., 2013 DNA SEQ MSH2_00052
1 c.29A>C - p.Q10P 0.002 9.80 0.0178 Thompson et al., 2013 DNA SEQ MSH2_00053
1 c.29A>G - p.Q10R 0.005 23.36 0.1165 Thompson et al., 2013 DNA SEQ MSH2_00055
1 c.29A>T - p.Q10L 0.024 4.50 0.0034 Thompson et al., 2013 DNA SEQ MSH2_00054
1 c.30G>C - p.Q10H 0.003 11.14 0.0238 Thompson et al., 2013 DNA SEQ MSH2_00057
1 c.30G>T - p.Q10H 0.003 11.14 0.0238 Thompson et al., 2013 DNA SEQ MSH2_00056
1 c.31T>A - p.L11M 0.038 2.60 0.0010 Thompson et al., 2013 DNA SEQ MSH2_00058
1 c.31T>G - p.L11V 0.038 3.73 0.0024 Thompson et al., 2013 DNA SEQ MSH2_00059
1 c.32T>C - p.L11S 0.570 6.84 0.0826 Thompson et al., 2013 DNA SEQ MSH2_00060
1 c.32T>G - p.L11W 0.933 5.60 0.2117 Thompson et al., 2013 DNA SEQ MSH2_00061
1 c.33G>C - p.L11F 0.570 2.66 0.0104 Thompson et al., 2013 DNA SEQ MSH2_00063
1 c.33G>T - p.L11F 0.570 2.66 0.0104 Thompson et al., 2013 DNA SEQ MSH2_00062
1 c.34G>A - p.E12K 0.002 18.43 0.0707 Thompson et al., 2013 DNA SEQ MSH2_00065
1 c.34G>C - p.E12Q 0.067 14.41 0.0542 Thompson et al., 2013 DNA SEQ MSH2_00064
1 c.35A>C - p.E12A 0.044 22.54 0.1256 Thompson et al., 2013 DNA SEQ MSH2_00067
1 c.35A>G - p.E12G 0.027 18.01 0.0743 Thompson et al., 2013 DNA SEQ MSH2_00068
1 c.35A>T - p.E12V 0.005 25.59 0.1396 Thompson et al., 2013 DNA SEQ MSH2_00066
1 c.36G>C - p.E12D 0.000 1.32 0.0002 Thompson et al., 2013 DNA SEQ MSH2_00070
1 c.36G>T - p.E12D 0.000 1.32 0.0002 Thompson et al., 2013 DNA SEQ MSH2_00069
1 c.37A>C - p.S13R 0.006 22.75 0.1109 Thompson et al., 2013 DNA SEQ MSH2_00071
1 c.37A>G - p.S13G 0.000 2.19 0.0006 Thompson et al., 2013 DNA SEQ MSH2_00072
1 c.37A>T - p.S13C 0.186 5.21 0.0094 Thompson et al., 2013 DNA SEQ MSH2_00073
1 c.38G>A - p.S13N 0.002 2.48 0.0008 Thompson et al., 2013 DNA SEQ MSH2_00075
1 c.38G>C - p.S13T 0.001 2.59 0.0009 Thompson et al., 2013 DNA SEQ MSH2_00074
1 c.38G>T - p.S13I 0.006 9.11 0.0154 Thompson et al., 2013 DNA SEQ MSH2_00076
1 c.39C>A - p.S13R 0.006 22.75 0.1109 Thompson et al., 2013 DNA SEQ MSH2_00078
1 c.39C>G - p.S13R 0.006 22.75 0.1109 Thompson et al., 2013 DNA SEQ MSH2_00077
1 c.40G>A - p.A14T 0.003 20.23 0.0862 Thompson et al., 2013 DNA SEQ MSH2_00081
1 c.40G>C - p.A14P 0.008 19.14 0.0783 Thompson et al., 2013 DNA SEQ MSH2_00079
1 c.40G>T - p.A14S 0.003 8.25 0.0122 Thompson et al., 2013 DNA SEQ MSH2_00080
1 c.41C>A - p.A14E 0.009 26.78 0.1546 Thompson et al., 2013 DNA SEQ MSH2_00083
1 c.41C>G - p.A14G 0.005 3.07 0.0013 Thompson et al., 2013 DNA SEQ MSH2_00082
1 c.41C>T - p.A14V 0.002 31.77 0.2074 Thompson et al., 2013 DNA SEQ MSH2_00084
1 c.43G>A - p.A15T 0.004 7.02 0.0085 Thompson et al., 2013 DNA SEQ MSH2_00087
1 c.43G>C - p.A15P 0.151 8.52 0.0243 Thompson et al., 2013 DNA SEQ MSH2_00085
1 c.43G>T - p.A15S 0.004 3.78 0.0021 Thompson et al., 2013 DNA SEQ MSH2_00086
1 c.44C>A - p.A15D 0.005 4.21 0.0027 Thompson et al., 2013 DNA SEQ MSH2_00088
1 c.44C>G - p.A15G 0.064 3.74 0.0026 Thompson et al., 2013 DNA SEQ MSH2_00090
1 c.44C>T - p.A15V 0.013 9.60 0.0178 Thompson et al., 2013 DNA SEQ MSH2_00089
1 c.46G>A - p.E16K 0.813 8.56 0.2968 Thompson et al., 2013 DNA SEQ MSH2_00091
1 c.46G>C - p.E16Q 0.382 4.37 0.0144 Thompson et al., 2013 DNA SEQ MSH2_00092
1 c.47A>C - p.E16A 0.382 22.63 0.3794 Thompson et al., 2013 DNA SEQ MSH2_00094
1 c.47A>G - p.E16G 0.879 21.77 0.8231 Thompson et al., 2013 DNA SEQ MSH2_00095
1 c.47A>T - p.E16V 0.857 35.00 0.9256 Thompson et al., 2013 DNA SEQ MSH2_00093
1 c.48G>C - p.E16D 0.268 8.80 0.0422 Thompson et al., 2013 DNA SEQ MSH2_00097
1 c.48G>T - p.E16D 0.268 8.80 0.0422 Thompson et al., 2013 DNA SEQ MSH2_00096
1 c.49G>A - p.V17I 0.008 1.99 0.0005 Thompson et al., 2013 DNA SEQ MSH2_00100
1 c.49G>C - p.V17L 0.009 2.98 0.0013 Thompson et al., 2013 DNA SEQ MSH2_00099
1 c.49G>T - p.V17F 0.157 3.30 0.0030 Thompson et al., 2013 DNA SEQ MSH2_00098
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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: [ MSH2_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. MSH2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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