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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 MSH6_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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1 c.4T>A - p.S2T 0.243 3.15 0.0038 Thompson et al., 2013 DNA SEQ MSH6_00001
1 c.4T>C - p.S2P 0.606 3.65 0.0246 Thompson et al., 2013 DNA SEQ MSH6_00002
1 c.4T>G - p.S2A 0.243 4.11 0.0070 Thompson et al., 2013 DNA SEQ MSH6_00003
1 c.5C>G - p.S2W 0.938 13.20 0.6577 Thompson et al., 2013 DNA SEQ MSH6_00004
1 c.5C>T - p.S2L 0.456 9.90 0.1137 Thompson et al., 2013 DNA SEQ MSH6_00005
1 c.7C>G - p.R3G 0.121 15.87 0.0825 Thompson et al., 2013 DNA SEQ MSH6_00006
1 c.8G>A - p.R3Q 0.055 4.13 0.0032 Thompson et al., 2013 DNA SEQ MSH6_00007
1 c.8G>C - p.R3P 0.183 27.98 0.2978 Thompson et al., 2013 DNA SEQ MSH6_00008
1 c.8G>T - p.R3L 0.121 20.72 0.1414 Thompson et al., 2013 DNA SEQ MSH6_00009
1 c.10C>A - p.Q4K 0.167 3.91 0.0045 Thompson et al., 2013 DNA SEQ MSH6_00010
1 c.10C>G - p.Q4E 0.167 4.90 0.0075 Thompson et al., 2013 DNA SEQ MSH6_00011
1 c.11A>C - p.Q4P 0.489 5.77 0.0416 Thompson et al., 2013 DNA SEQ MSH6_00012
1 c.11A>G - p.Q4R 0.262 5.99 0.0176 Thompson et al., 2013 DNA SEQ MSH6_00013
1 c.11A>T - p.Q4L 0.262 14.26 0.1139 Thompson et al., 2013 DNA SEQ MSH6_00014
1 c.12G>C - p.Q4H 0.568 2.50 0.0090 Thompson et al., 2013 DNA SEQ MSH6_00015
1 c.12G>T - p.Q4H 0.568 2.50 0.0090 Thompson et al., 2013 DNA SEQ MSH6_00016
1 c.13A>C - p.S5R 0.059 5.28 0.0056 Thompson et al., 2013 DNA SEQ MSH6_00017
1 c.13A>G - p.S5G 0.056 2.35 0.0009 Thompson et al., 2013 DNA SEQ MSH6_00018
1 c.13A>T - p.S5C 0.463 6.40 0.0468 Thompson et al., 2013 DNA SEQ MSH6_00019
1 c.14G>A - p.S5N 0.059 2.26 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00020
1 c.14G>C - p.S5T 0.034 6.08 0.0070 Thompson et al., 2013 DNA SEQ MSH6_00021
1 c.14G>T - p.S5I 0.323 7.30 0.0352 Thompson et al., 2013 DNA SEQ MSH6_00022
1 c.15C>A - p.S5R 0.059 5.28 0.0056 Thompson et al., 2013 DNA SEQ MSH6_00023
1 c.15C>G - p.S5R 0.059 5.28 0.0056 Thompson et al., 2013 DNA SEQ MSH6_00024
1 c.16A>C - p.T6P 0.772 32.68 0.8812 Thompson et al., 2013 DNA SEQ MSH6_00025
1 c.16A>G - p.T6A 0.415 26.96 0.5115 Thompson et al., 2013 DNA SEQ MSH6_00026
1 c.16A>T - p.T6S 0.556 3.81 0.0220 Thompson et al., 2013 DNA SEQ MSH6_00027
1 c.17C>A - p.T6N 0.772 10.89 0.3797 Thompson et al., 2013 DNA SEQ MSH6_00028
1 c.17C>G - p.T6S 0.556 3.81 0.0220 Thompson et al., 2013 DNA SEQ MSH6_00029
1 c.17C>T - p.T6I 0.772 34.37 0.8927 Thompson et al., 2013 DNA SEQ MSH6_00030
1 c.19C>A - p.L7M 0.823 10.65 0.4197 Thompson et al., 2013 DNA SEQ MSH6_00031
1 c.19C>G - p.L7V 0.415 25.80 0.4866 Thompson et al., 2013 DNA SEQ MSH6_00032
1 c.20T>A - p.L7Q 0.859 15.01 0.6475 Thompson et al., 2013 DNA SEQ MSH6_00033
1 c.20T>C - p.L7P 0.859 36.32 0.9318 Thompson et al., 2013 DNA SEQ MSH6_00034
1 c.20T>G - p.L7R 0.823 33.02 0.9042 Thompson et al., 2013 DNA SEQ MSH6_00035
1 c.22T>A - p.Y8N 0.027 13.43 0.0396 Thompson et al., 2013 DNA SEQ MSH6_00036
1 c.22T>C - p.Y8H 0.017 13.81 0.0404 Thompson et al., 2013 DNA SEQ MSH6_00037
1 c.22T>G - p.Y8D 0.025 26.38 0.1591 Thompson et al., 2013 DNA SEQ MSH6_00038
1 c.23A>C - p.Y8S 0.004 11.76 0.0269 Thompson et al., 2013 DNA SEQ MSH6_00039
1 c.23A>G - p.Y8C 0.030 11.53 0.0287 Thompson et al., 2013 DNA SEQ MSH6_00040
1 c.23A>T - p.Y8F 0.000 0.47 1.82E-05 Thompson et al., 2013 DNA SEQ MSH6_00041
1 c.25A>C - p.S9R 0.003 3.77 0.0021 Thompson et al., 2013 DNA SEQ MSH6_00042
1 c.25A>G - p.S9G 0.039 3.06 0.0015 Thompson et al., 2013 DNA SEQ MSH6_00043
1 c.25A>T - p.S9C 0.373 5.85 0.0266 Thompson et al., 2013 DNA SEQ MSH6_00044
1 c.26G>A - p.S9N 0.067 2.00 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00045
1 c.26G>C - p.S9T 0.039 4.40 0.0034 Thompson et al., 2013 DNA SEQ MSH6_00046
1 c.26G>T - p.S9I 0.247 7.02 0.0236 Thompson et al., 2013 DNA SEQ MSH6_00047
1 c.27C>A - p.S9R 0.003 3.77 0.0021 Thompson et al., 2013 DNA SEQ MSH6_00048
1 c.27C>G - p.S9R 0.003 3.77 0.0021 Thompson et al., 2013 DNA SEQ MSH6_00049
1 c.28T>A - p.F10I 0.456 8.11 0.0754 Thompson et al., 2013 DNA SEQ MSH6_00050
1 c.28T>C - p.F10L 0.243 11.89 0.0728 Thompson et al., 2013 DNA SEQ MSH6_00051
1 c.28T>G - p.F10V 0.456 14.21 0.2257 Thompson et al., 2013 DNA SEQ MSH6_00052
1 c.29T>A - p.F10Y 0.243 2.41 0.0021 Thompson et al., 2013 DNA SEQ MSH6_00053
1 c.29T>C - p.F10S 0.606 16.61 0.4404 Thompson et al., 2013 DNA SEQ MSH6_00054
1 c.29T>G - p.F10C 0.735 14.64 0.5058 Thompson et al., 2013 DNA SEQ MSH6_00055
1 c.30C>A - p.F10L 0.243 11.89 0.0728 Thompson et al., 2013 DNA SEQ MSH6_00056
1 c.30C>G - p.F10L 0.243 11.89 0.0728 Thompson et al., 2013 DNA SEQ MSH6_00057
1 c.31T>A - p.F11I 0.456 10.86 0.1367 Thompson et al., 2013 DNA SEQ MSH6_00058
1 c.31T>C - p.F11L 0.243 12.82 0.0852 Thompson et al., 2013 DNA SEQ MSH6_00059
1 c.31T>G - p.F11V 0.456 17.61 0.3217 Thompson et al., 2013 DNA SEQ MSH6_00060
1 c.32T>A - p.F11Y 0.243 16.28 0.1380 Thompson et al., 2013 DNA SEQ MSH6_00061
1 c.32T>C - p.F11S 0.606 19.43 0.5290 Thompson et al., 2013 DNA SEQ MSH6_00062
1 c.32T>G - p.F11C 0.735 17.91 0.6180 Thompson et al., 2013 DNA SEQ MSH6_00063
1 c.33C>A - p.F11L 0.243 12.82 0.0852 Thompson et al., 2013 DNA SEQ MSH6_00064
1 c.33C>G - p.F11L 0.243 12.82 0.0852 Thompson et al., 2013 DNA SEQ MSH6_00065
1 c.34C>A - p.P12T 0.003 1.98 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00066
1 c.34C>G - p.P12A 0.071 3.24 0.0020 Thompson et al., 2013 DNA SEQ MSH6_00067
1 c.34C>T - p.P12S 0.052 2.08 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00068
1 c.35C>A - p.P12H 0.399 3.50 0.0094 Thompson et al., 2013 DNA SEQ MSH6_00069
1 c.35C>G - p.P12R 0.268 10.86 0.0663 Thompson et al., 2013 DNA SEQ MSH6_00070
1 c.35C>T - p.P12L 0.167 4.83 0.0073 Thompson et al., 2013 DNA SEQ MSH6_00071
1 c.37A>C - p.K13Q 0.772 14.08 0.5231 Thompson et al., 2013 DNA SEQ MSH6_00072
1 c.37A>G - p.K13E 0.556 23.70 0.5876 Thompson et al., 2013 DNA SEQ MSH6_00073
1 c.38A>C - p.K13T 0.772 27.99 0.8392 Thompson et al., 2013 DNA SEQ MSH6_00074
1 c.38A>G - p.K13R 0.556 7.31 0.0898 Thompson et al., 2013 DNA SEQ MSH6_00075
1 c.38A>T - p.K13M 0.859 17.24 0.7156 Thompson et al., 2013 DNA SEQ MSH6_00076
1 c.39G>C - p.K13N 0.772 14.55 0.5416 Thompson et al., 2013 DNA SEQ MSH6_00077
1 c.39G>T - p.K13N 0.772 14.55 0.5416 Thompson et al., 2013 DNA SEQ MSH6_00078
1 c.40T>A - p.S14T 0.000 2.57 0.0009 Thompson et al., 2013 DNA SEQ MSH6_00079
1 c.40T>C - p.S14P 0.023 8.36 0.0136 Thompson et al., 2013 DNA SEQ MSH6_00080
1 c.40T>G - p.S14A 0.001 4.64 0.0033 Thompson et al., 2013 DNA SEQ MSH6_00081
1 c.41C>A - p.S14Y 0.056 5.24 0.0055 Thompson et al., 2013 DNA SEQ MSH6_00082
1 c.41C>G - p.S14C 0.072 1.77 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00083
1 c.41C>T - p.S14F 0.056 4.94 0.0048 Thompson et al., 2013 DNA SEQ MSH6_00084
1 c.43C>A - p.P15T 0.167 7.87 0.0218 Thompson et al., 2013 DNA SEQ MSH6_00085
1 c.43C>G - p.P15A 0.115 9.45 0.0263 Thompson et al., 2013 DNA SEQ MSH6_00086
1 c.43C>T - p.P15S 0.076 7.81 0.0146 Thompson et al., 2013 DNA SEQ MSH6_00087
1 c.44C>A - p.P15Q 0.010 7.77 0.0110 Thompson et al., 2013 DNA SEQ MSH6_00088
1 c.44C>G - p.P15R 0.268 24.77 0.3159 Thompson et al., 2013 DNA SEQ MSH6_00089
1 c.44C>T - p.P15L 0.108 14.93 0.0689 Thompson et al., 2013 DNA SEQ MSH6_00090
1 c.46G>A - p.A16T 0.006 4.74 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00091
1 c.46G>C - p.A16P 0.000 3.86 0.0022 Thompson et al., 2013 DNA SEQ MSH6_00092
1 c.46G>T - p.A16S 0.006 2.72 0.0010 Thompson et al., 2013 DNA SEQ MSH6_00093
1 c.47C>A - p.A16E 0.006 27.24 0.1581 Thompson et al., 2013 DNA SEQ MSH6_00094
1 c.47C>G - p.A16G 0.009 2.38 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00095
1 c.47C>T - p.A16V 0.004 5.51 0.0049 Thompson et al., 2013 DNA SEQ MSH6_00096
1 c.49C>A - p.L17M 0.007 1.92 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00097
1 c.49C>G - p.L17V 0.000 2.26 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00098
1 c.50T>A - p.L17Q 0.017 1.92 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00099
1 c.50T>C - p.L17P 0.000 2.22 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00100
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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: [ MSH6_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. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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