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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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?/? 4 c.2781T>G - p.I927M 0.564 15.70 0.3667 Thompson et al., 2013 DNA SEQ MSH6_06101 - - -
?/? 4 c.2782A>C - p.T928P 0.848 13.00 0.5585 Thompson et al., 2013 DNA SEQ MSH6_06102 - - -
?/? 4 c.2782A>G - p.T928A 0.119 8.58 0.0216 Thompson et al., 2013 DNA SEQ MSH6_06103 - - -
?/? 4 c.2782A>T - p.T928S 0.138 3.47 0.0031 Thompson et al., 2013 DNA SEQ MSH6_06104 - - -
?/? 4 c.2783C>A - p.T928N 0.752 11.79 0.4023 Thompson et al., 2013 DNA SEQ MSH6_06105 - - -
?/? 4 c.2783C>G - p.T928S 0.138 3.47 0.0031 Thompson et al., 2013 DNA SEQ MSH6_06106 - - -
?/? 4 c.2783C>T - p.T928I 0.048 2.17 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06107 - - -
?/? 4 c.2785C>A - p.P929T 0.980 17.77 0.8186 Thompson et al., 2013 DNA SEQ MSH6_06108 - - -
?/? 4 c.2785C>G - p.P929A 0.980 20.00 0.8551 Thompson et al., 2013 DNA SEQ MSH6_06109 - - -
?/? 4 c.2785C>T - p.P929S 0.995 17.50 0.8229 Thompson et al., 2013 DNA SEQ MSH6_06110 - - -
?/? 4 c.2786C>A - p.P929H 0.999 19.31 0.8552 Thompson et al., 2013 DNA SEQ MSH6_06111 - - -
?/? 4 c.2786C>G - p.P929R 0.993 41.48 0.9703 Thompson et al., 2013 DNA SEQ MSH6_06112 - - -
?/? 4 c.2786C>T - p.P929L 0.967 26.92 0.9164 Thompson et al., 2013 DNA SEQ MSH6_06113 - - -
?/? 4 c.2788A>C - p.K930Q 0.263 3.10 0.0040 Thompson et al., 2013 DNA SEQ MSH6_06114 - - -
?/? 4 c.2788A>G - p.K930E 0.070 6.18 0.0084 Thompson et al., 2013 DNA SEQ MSH6_06115 - - -
?/? 4 c.2789A>C - p.K930T 0.201 5.45 0.0110 Thompson et al., 2013 DNA SEQ MSH6_06116 - - -
?/? 4 c.2789A>G - p.K930R 0.298 1.82 0.0014 Thompson et al., 2013 DNA SEQ MSH6_06117 - - -
?/? 4 c.2789A>T - p.K930I 0.385 4.90 0.0188 Thompson et al., 2013 DNA SEQ MSH6_06118 - - -
?/? 4 c.2790A>C - p.K930N 0.194 2.83 0.0024 Thompson et al., 2013 DNA SEQ MSH6_06119 - - -
?/? 4 c.2790A>T - p.K930N 0.194 2.83 0.0024 Thompson et al., 2013 DNA SEQ MSH6_06120 - - -
?/? 4 c.2791G>A - p.A931T 0.078 3.28 0.0021 Thompson et al., 2013 DNA SEQ MSH6_06121 - - -
?/? 4 c.2791G>C - p.A931P 0.008 2.57 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06122 - - -
?/? 4 c.2791G>T - p.A931S 0.028 2.51 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06123 - - -
?/? 4 c.2792C>A - p.A931E 0.015 3.67 0.0021 Thompson et al., 2013 DNA SEQ MSH6_06124 - - -
?/? 4 c.2792C>G - p.A931G 0.129 2.82 0.0018 Thompson et al., 2013 DNA SEQ MSH6_06125 - - -
?/? 4 c.2792C>T - p.A931V 0.018 3.39 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06126 - - -
?/? 4 c.2794G>A - p.G932S 0.920 7.50 0.3303 Thompson et al., 2013 DNA SEQ MSH6_06127 - - -
?/? 4 c.2794G>C - p.G932R 0.998 36.52 0.9615 Thompson et al., 2013 DNA SEQ MSH6_06128 - - -
?/? 4 c.2794G>T - p.G932C 0.999 19.13 0.8526 Thompson et al., 2013 DNA SEQ MSH6_06129 - - -
?/? 4 c.2795G>A - p.G932D 0.968 35.86 0.9548 Thompson et al., 2013 DNA SEQ MSH6_06130 - - -
?/? 4 c.2795G>C - p.G932A 0.945 22.05 0.8638 Thompson et al., 2013 DNA SEQ MSH6_06131 - - -
?/? 4 c.2795G>T - p.G932V 0.991 29.36 0.9366 Thompson et al., 2013 DNA SEQ MSH6_06132 - - -
?/? 4 c.2797T>A - p.F933I 0.048 2.89 0.0014 Thompson et al., 2013 DNA SEQ MSH6_06133 - - -
?/? 4 c.2797T>C - p.F933L 0.029 6.74 0.0086 Thompson et al., 2013 DNA SEQ MSH6_06134 - - -
?/? 4 c.2797T>G - p.F933V 0.005 3.50 0.0018 Thompson et al., 2013 DNA SEQ MSH6_06135 - - -
?/? 4 c.2798T>A - p.F933Y 0.143 5.56 0.0090 Thompson et al., 2013 DNA SEQ MSH6_06136 - - -
?/? 4 c.2798T>C - p.F933S 0.083 4.42 0.0042 Thompson et al., 2013 DNA SEQ MSH6_06137 - - -
?/? 4 c.2798T>G - p.F933C 0.083 3.92 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06138 - - -
?/? 4 c.2799T>A - p.F933L 0.029 6.74 0.0086 Thompson et al., 2013 DNA SEQ MSH6_06139 - - -
?/? 4 c.2799T>G - p.F933L 0.029 6.74 0.0086 Thompson et al., 2013 DNA SEQ MSH6_06140 - - -
?/? 4 c.2800G>A - p.D934N 0.326 1.81 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06141 - - -
?/? 4 c.2800G>C - p.D934H 0.946 3.24 0.0758 Thompson et al., 2013 DNA SEQ MSH6_06142 - - -
?/? 4 c.2800G>T - p.D934Y 0.223 4.33 0.0072 Thompson et al., 2013 DNA SEQ MSH6_06143 - - -
?/? 4 c.2801A>C - p.D934A 0.417 6.55 0.0408 Thompson et al., 2013 DNA SEQ MSH6_06144 - - -
?/? 4 c.2801A>G - p.D934G 0.326 4.98 0.0153 Thompson et al., 2013 DNA SEQ MSH6_06145 - - -
?/? 4 c.2801A>T - p.D934V 0.223 3.20 0.0036 Thompson et al., 2013 DNA SEQ MSH6_06146 - - -
?/? 4 c.2802C>A - p.D934E 0.188 6.04 0.0132 Thompson et al., 2013 DNA SEQ MSH6_06147 - - -
?/? 4 c.2802C>G - p.D934E 0.188 6.04 0.0132 Thompson et al., 2013 DNA SEQ MSH6_06148 - - -
?/? 4 c.2803T>A - p.S935T 0.011 3.54 0.0019 Thompson et al., 2013 DNA SEQ MSH6_06149 - - -
?/? 4 c.2803T>C - p.S935P 0.001 1.32 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06150 - - -
?/? 4 c.2803T>G - p.S935A 0.009 5.69 0.0054 Thompson et al., 2013 DNA SEQ MSH6_06151 - - -
?/? 4 c.2804C>A - p.S935Y 0.297 4.42 0.0103 Thompson et al., 2013 DNA SEQ MSH6_06152 - - -
?/? 4 c.2804C>G - p.S935C 0.749 6.61 0.1516 Thompson et al., 2013 DNA SEQ MSH6_06153 - - -
?/? 4 c.2804C>T - p.S935F 0.412 7.38 0.0518 Thompson et al., 2013 DNA SEQ MSH6_06154 - - -
?/? 4 c.2806G>A - p.D936N 0.326 13.48 0.1294 Thompson et al., 2013 DNA SEQ MSH6_06155 - - -
?/? 4 c.2806G>C - p.D936H 0.946 17.99 0.8006 Thompson et al., 2013 DNA SEQ MSH6_06156 - - -
?/? 4 c.2806G>T - p.D936Y 0.886 13.66 0.6246 Thompson et al., 2013 DNA SEQ MSH6_06157 - - -
?/? 4 c.2807A>C - p.D936A 0.113 22.68 0.1634 Thompson et al., 2013 DNA SEQ MSH6_06158 - - -
?/? 4 c.2807A>G - p.D936G 0.326 17.97 0.2220 Thompson et al., 2013 DNA SEQ MSH6_06159 - - -
?/? 4 c.2807A>T - p.D936V 0.223 26.03 0.2991 Thompson et al., 2013 DNA SEQ MSH6_06160 - - -
?/? 4 c.2808T>A - p.D936E 0.049 2.29 0.0008 Thompson et al., 2013 DNA SEQ MSH6_06161 - - -
?/? 4 c.2808T>G - p.D936E 0.049 2.29 0.0008 Thompson et al., 2013 DNA SEQ MSH6_06162 - - -
?/? 4 c.2809T>A - p.Y937N 0.984 17.86 0.8228 Thompson et al., 2013 DNA SEQ MSH6_06163 - - -
?/? 4 c.2809T>C - p.Y937H 0.924 16.52 0.7508 Thompson et al., 2013 DNA SEQ MSH6_06164 - - -
?/? 4 c.2809T>G - p.Y937D 0.984 35.81 0.9575 Thompson et al., 2013 DNA SEQ MSH6_06165 - - -
?/? 4 c.2810A>C - p.Y937S 0.965 18.59 0.8242 Thompson et al., 2013 DNA SEQ MSH6_06166 - - -
?/? 4 c.2810A>G - p.Y937C 0.891 23.02 0.8475 Thompson et al., 2013 DNA SEQ MSH6_06167 - - -
?/? 4 c.2810A>T - p.Y937F 0.247 22.82 0.2596 Thompson et al., 2013 DNA SEQ MSH6_06168 - - -
?/? 4 c.2812G>A - p.D938N 0.932 13.97 0.6805 Thompson et al., 2013 DNA SEQ MSH6_06169 - - -
?/? 4 c.2812G>C - p.D938H 0.953 20.32 0.8450 Thompson et al., 2013 DNA SEQ MSH6_06170 - - -
?/? 4 c.2812G>T - p.D938Y 0.991 21.06 0.8743 Thompson et al., 2013 DNA SEQ MSH6_06171 - - -
?/? 4 c.2813A>C - p.D938A 0.886 29.51 0.9053 Thompson et al., 2013 DNA SEQ MSH6_06172 - - -
?/? 4 c.2813A>G - p.D938G 0.840 20.85 0.7813 Thompson et al., 2013 DNA SEQ MSH6_06173 - - -
?/? 4 c.2813A>T - p.D938V 0.890 22.25 0.8367 Thompson et al., 2013 DNA SEQ MSH6_06174 - - -
?/? 4 c.2814C>A - p.D938E 0.932 23.98 0.8790 Thompson et al., 2013 DNA SEQ MSH6_06175 - - -
?/? 4 c.2814C>G - p.D938E 0.932 23.98 0.8790 Thompson et al., 2013 DNA SEQ MSH6_06176 - - -
?/? 4 c.2815C>A - p.Q939K 0.004 3.01 0.0013 Thompson et al., 2013 DNA SEQ MSH6_06177 - - -
?/? 4 c.2815C>G - p.Q939E 0.004 2.70 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06178 - - -
?/? 4 c.2816A>C - p.Q939P 0.065 10.49 0.0269 Thompson et al., 2013 DNA SEQ MSH6_06179 - - -
?/? 4 c.2816A>G - p.Q939R 0.013 5.13 0.0044 Thompson et al., 2013 DNA SEQ MSH6_06180 - - -
?/? 4 c.2816A>T - p.Q939L 0.013 8.94 0.0152 Thompson et al., 2013 DNA SEQ MSH6_06181 - - -
?/? 4 c.2817A>C - p.Q939H 0.020 4.37 0.0031 Thompson et al., 2013 DNA SEQ MSH6_06182 - - -
?/? 4 c.2817A>T - p.Q939H 0.020 4.37 0.0031 Thompson et al., 2013 DNA SEQ MSH6_06183 - - -
?/? 4 c.2818G>A - p.A940T 0.198 33.24 0.4006 Thompson et al., 2013 DNA SEQ MSH6_06184 - - -
?/? 4 c.2818G>C - p.A940P 0.922 38.15 0.9523 Thompson et al., 2013 DNA SEQ MSH6_06185 - - -
?/? 4 c.2818G>T - p.A940S 0.123 23.39 0.1794 Thompson et al., 2013 DNA SEQ MSH6_06186 - - -
?/? 4 c.2819C>A - p.A940D 0.935 43.15 0.9654 Thompson et al., 2013 DNA SEQ MSH6_06187 - - -
?/? 4 c.2819C>G - p.A940G 0.422 22.29 0.4120 Thompson et al., 2013 DNA SEQ MSH6_06188 - - -
?/? 4 c.2819C>T - p.A940V 0.108 35.49 0.3458 Thompson et al., 2013 DNA SEQ MSH6_06189 - - -
?/? 4 c.2821C>A - p.L941I 0.194 5.56 0.0112 Thompson et al., 2013 DNA SEQ MSH6_06190 - - -
?/? 4 c.2821C>G - p.L941V 0.065 13.88 0.0496 Thompson et al., 2013 DNA SEQ MSH6_06191 - - -
?/? 4 c.2821C>T - p.L941F 0.298 8.57 0.0450 Thompson et al., 2013 DNA SEQ MSH6_06192 - - -
?/? 4 c.2822T>A - p.L941H 0.307 17.84 0.2057 Thompson et al., 2013 DNA SEQ MSH6_06193 - - -
?/? 4 c.2822T>C - p.L941P 0.894 33.31 0.9287 Thompson et al., 2013 DNA SEQ MSH6_06194 - - -
?/? 4 c.2822T>G - p.L941R 0.263 37.87 0.5424 Thompson et al., 2013 DNA SEQ MSH6_06195 - - -
?/? 4 c.2824G>A - p.A942T 0.018 5.21 0.0046 Thompson et al., 2013 DNA SEQ MSH6_06196 - - -
?/? 4 c.2824G>C - p.A942P 0.436 7.05 0.0517 Thompson et al., 2013 DNA SEQ MSH6_06197 - - -
?/? 4 c.2824G>T - p.A942S 0.010 2.51 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06198 - - -
?/? 4 c.2825C>A - p.A942D 0.019 3.62 0.0020 Thompson et al., 2013 DNA SEQ MSH6_06199 - - -
?/? 4 c.2825C>G - p.A942G 0.059 2.69 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06200 - - -
6101 - 6200
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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database.

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