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.2644T>G - p.F882V 0.014 13.28 0.0366 Thompson et al., 2013 DNA SEQ MSH6_05801 - - -
?/? 4 c.2645T>A - p.F882Y 0.143 13.79 0.0670 Thompson et al., 2013 DNA SEQ MSH6_05802 - - -
?/? 4 c.2645T>C - p.F882S 0.051 14.17 0.0490 Thompson et al., 2013 DNA SEQ MSH6_05803 - - -
?/? 4 c.2645T>G - p.F882C 0.075 12.47 0.0410 Thompson et al., 2013 DNA SEQ MSH6_05804 - - -
?/? 4 c.2646T>A - p.F882L 0.014 7.95 0.0117 Thompson et al., 2013 DNA SEQ MSH6_05805 - - -
?/? 4 c.2646T>G - p.F882L 0.014 7.95 0.0117 Thompson et al., 2013 DNA SEQ MSH6_05806 - - -
?/? 4 c.2647A>C - p.K883Q 0.037 6.52 0.0083 Thompson et al., 2013 DNA SEQ MSH6_05807 - - -
?/? 4 c.2647A>G - p.K883E 0.012 13.38 0.0369 Thompson et al., 2013 DNA SEQ MSH6_05808 - - -
?/? 4 c.2648A>C - p.K883T 0.003 13.57 0.0367 Thompson et al., 2013 DNA SEQ MSH6_05809 - - -
?/? 4 c.2648A>G - p.K883R 0.013 3.28 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05810 - - -
?/? 4 c.2648A>T - p.K883M 0.092 9.24 0.0227 Thompson et al., 2013 DNA SEQ MSH6_05811 - - -
?/? 4 c.2649G>C - p.K883N 0.022 7.21 0.0097 Thompson et al., 2013 DNA SEQ MSH6_05812 - - -
?/? 4 c.2649G>T - p.K883N 0.022 7.21 0.0097 Thompson et al., 2013 DNA SEQ MSH6_05813 - - -
?/? 4 c.2650T>A - p.S884T 0.568 13.44 0.2927 Thompson et al., 2013 DNA SEQ MSH6_05814 - - -
?/? 4 c.2650T>C - p.S884P 0.568 39.26 0.8251 Thompson et al., 2013 DNA SEQ MSH6_05815 - - -
?/? 4 c.2650T>G - p.S884A 0.767 28.89 0.8459 Thompson et al., 2013 DNA SEQ MSH6_05816 - - -
?/? 4 c.2651C>A - p.S884Y 0.863 23.48 0.8376 Thompson et al., 2013 DNA SEQ MSH6_05817 - - -
?/? 4 c.2651C>G - p.S884C 0.797 20.41 0.7392 Thompson et al., 2013 DNA SEQ MSH6_05818 - - -
?/? 4 c.2651C>T - p.S884F 0.966 21.57 0.8684 Thompson et al., 2013 DNA SEQ MSH6_05819 - - -
?/? 4 c.2653A>C - p.K885Q 0.036 3.25 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05820 - - -
?/? 4 c.2653A>G - p.K885E 0.019 6.80 0.0084 Thompson et al., 2013 DNA SEQ MSH6_05821 - - -
?/? 4 c.2654A>C - p.K885T 0.006 13.13 0.0346 Thompson et al., 2013 DNA SEQ MSH6_05822 - - -
?/? 4 c.2654A>G - p.K885R 0.036 2.76 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05823 - - -
?/? 4 c.2654A>T - p.K885I 0.139 20.86 0.1529 Thompson et al., 2013 DNA SEQ MSH6_05824 - - -
?/? 4 c.2655A>C - p.K885N 0.034 9.43 0.0187 Thompson et al., 2013 DNA SEQ MSH6_05825 - - -
?/? 4 c.2655A>T - p.K885N 0.034 9.43 0.0187 Thompson et al., 2013 DNA SEQ MSH6_05826 - - -
?/? 4 c.2656A>C - p.I886L 0.001 1.95 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05827 - - -
?/? 4 c.2656A>G - p.I886V 0.001 6.22 0.0064 Thompson et al., 2013 DNA SEQ MSH6_05828 - - -
?/? 4 c.2656A>T - p.I886F 0.134 5.12 0.0072 Thompson et al., 2013 DNA SEQ MSH6_05829 - - -
?/? 4 c.2657T>A - p.I886N 0.056 15.65 0.0619 Thompson et al., 2013 DNA SEQ MSH6_05830 - - -
?/? 4 c.2657T>C - p.I886T 0.002 10.57 0.0211 Thompson et al., 2013 DNA SEQ MSH6_05831 - - -
?/? 4 c.2657T>G - p.I886S 0.008 10.35 0.0206 Thompson et al., 2013 DNA SEQ MSH6_05832 - - -
?/? 4 c.2658C>G - p.I886M 0.022 6.61 0.0080 Thompson et al., 2013 DNA SEQ MSH6_05833 - - -
?/? 4 c.2659C>A - p.L887I 0.817 15.46 0.6216 Thompson et al., 2013 DNA SEQ MSH6_05834 - - -
?/? 4 c.2659C>G - p.L887V 0.823 25.80 0.8435 Thompson et al., 2013 DNA SEQ MSH6_05835 - - -
?/? 4 c.2659C>T - p.L887F 0.974 12.59 0.6680 Thompson et al., 2013 DNA SEQ MSH6_05836 - - -
?/? 4 c.2660T>A - p.L887H 0.999 20.32 0.8690 Thompson et al., 2013 DNA SEQ MSH6_05837 - - -
?/? 4 c.2660T>C - p.L887P 0.996 36.32 0.9607 Thompson et al., 2013 DNA SEQ MSH6_05838 - - -
?/? 4 c.2660T>G - p.L887R 0.996 33.02 0.9517 Thompson et al., 2013 DNA SEQ MSH6_05839 - - -
?/? 4 c.2662A>C - p.K888Q 0.019 10.98 0.0246 Thompson et al., 2013 DNA SEQ MSH6_05840 - - -
?/? 4 c.2662A>G - p.K888E 0.022 20.48 0.0952 Thompson et al., 2013 DNA SEQ MSH6_05841 - - -
?/? 4 c.2663A>C - p.K888T 0.005 23.57 0.1186 Thompson et al., 2013 DNA SEQ MSH6_05842 - - -
?/? 4 c.2663A>G - p.K888R 0.004 3.53 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05843 - - -
?/? 4 c.2663A>T - p.K888M 0.339 14.74 0.1613 Thompson et al., 2013 DNA SEQ MSH6_05844 - - -
?/? 4 c.2664G>C - p.K888N 0.013 12.83 0.0338 Thompson et al., 2013 DNA SEQ MSH6_05845 - - -
?/? 4 c.2664G>T - p.K888N 0.013 12.83 0.0338 Thompson et al., 2013 DNA SEQ MSH6_05846 - - -
?/? 4 c.2665C>A - p.Q889K 0.014 4.16 0.0027 Thompson et al., 2013 DNA SEQ MSH6_05847 - - -
?/? 4 c.2665C>G - p.Q889E 0.070 5.61 0.0068 Thompson et al., 2013 DNA SEQ MSH6_05848 - - -
?/? 4 c.2666A>C - p.Q889P 0.731 19.38 0.6554 Thompson et al., 2013 DNA SEQ MSH6_05849 - - -
?/? 4 c.2666A>G - p.Q889R 0.070 6.52 0.0095 Thompson et al., 2013 DNA SEQ MSH6_05850 - - -
?/? 4 c.2666A>T - p.Q889L 0.510 9.77 0.1355 Thompson et al., 2013 DNA SEQ MSH6_05851 - - -
?/? 4 c.2667G>C - p.Q889H 0.125 8.01 0.0190 Thompson et al., 2013 DNA SEQ MSH6_05852 - - -
?/? 4 c.2667G>T - p.Q889H 0.125 8.01 0.0190 Thompson et al., 2013 DNA SEQ MSH6_05853 - - -
?/? 4 c.2668G>A - p.V890I 0.004 2.03 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05854 - - -
?/? 4 c.2668G>C - p.V890L 0.001 4.37 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05855 - - -
?/? 4 c.2668G>T - p.V890F 0.038 4.61 0.0038 Thompson et al., 2013 DNA SEQ MSH6_05856 - - -
?/? 4 c.2669T>A - p.V890D 0.449 33.06 0.6579 Thompson et al., 2013 DNA SEQ MSH6_05857 - - -
?/? 4 c.2669T>C - p.V890A 0.018 5.99 0.0063 Thompson et al., 2013 DNA SEQ MSH6_05858 - - -
?/? 4 c.2669T>G - p.V890G 0.232 4.49 0.0081 Thompson et al., 2013 DNA SEQ MSH6_05859 - - -
?/? 4 c.2671A>C - p.I891L 0.002 5.26 0.0044 Thompson et al., 2013 DNA SEQ MSH6_05860 - - -
?/? 4 c.2671A>G - p.I891V 0.001 3.41 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05861 - - -
?/? 4 c.2671A>T - p.I891F 0.008 7.66 0.0105 Thompson et al., 2013 DNA SEQ MSH6_05862 - - -
?/? 4 c.2672T>A - p.I891N 0.416 15.16 0.2216 Thompson et al., 2013 DNA SEQ MSH6_05863 - - -
?/? 4 c.2672T>C - p.I891T 0.004 14.58 0.0431 Thompson et al., 2013 DNA SEQ MSH6_05864 - - -
?/? 4 c.2672T>G - p.I891S 0.042 13.22 0.0407 Thompson et al., 2013 DNA SEQ MSH6_05865 - - -
?/? 4 c.2673C>G - p.I891M 0.026 11.44 0.0277 Thompson et al., 2013 DNA SEQ MSH6_05866 - - -
?/? 4 c.2674T>A - p.S892T 0.001 2.28 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05867 - - -
?/? 4 c.2674T>C - p.S892P 0.015 9.73 0.0185 Thompson et al., 2013 DNA SEQ MSH6_05868 - - -
?/? 4 c.2674T>G - p.S892A 0.012 6.91 0.0085 Thompson et al., 2013 DNA SEQ MSH6_05869 - - -
?/? 4 c.2675C>A - p.S892Y 0.025 5.74 0.0059 Thompson et al., 2013 DNA SEQ MSH6_05870 - - -
?/? 4 c.2675C>G - p.S892C 0.013 2.52 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05871 - - -
?/? 4 c.2675C>T - p.S892F 0.025 5.58 0.0055 Thompson et al., 2013 DNA SEQ MSH6_05872 - - -
?/? 4 c.2677C>A - p.L893M 0.099 2.20 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05873 - - -
?/? 4 c.2677C>G - p.L893V 0.004 5.74 0.0054 Thompson et al., 2013 DNA SEQ MSH6_05874 - - -
?/? 4 c.2678T>A - p.L893Q 0.084 2.34 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05875 - - -
?/? 4 c.2678T>C - p.L893P 0.021 12.52 0.0331 Thompson et al., 2013 DNA SEQ MSH6_05876 - - -
?/? 4 c.2678T>G - p.L893R 0.036 4.60 0.0037 Thompson et al., 2013 DNA SEQ MSH6_05877 - - -
?/? 4 c.2680C>A - p.Q894K 0.001 1.65 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05878 - - -
?/? 4 c.2680C>G - p.Q894E 0.001 2.40 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05879 - - -
?/? 4 c.2681A>C - p.Q894P 0.002 7.66 0.0103 Thompson et al., 2013 DNA SEQ MSH6_05880 - - -
?/? 4 c.2681A>G - p.Q894R 0.010 2.69 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05881 - - -
?/? 4 c.2681A>T - p.Q894L 0.003 10.18 0.0195 Thompson et al., 2013 DNA SEQ MSH6_05882 - - -
?/? 4 c.2682G>C - p.Q894H 0.133 2.61 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05883 - - -
?/? 4 c.2682G>T - p.Q894H 0.133 2.61 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05884 - - -
?/? 4 c.2683A>C - p.T895P 0.007 7.07 0.0087 Thompson et al., 2013 DNA SEQ MSH6_05885 - - -
?/? 4 c.2683A>G - p.T895A 0.008 4.74 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05886 - - -
?/? 4 c.2683A>T - p.T895S 0.004 1.08 0.0001 Thompson et al., 2013 DNA SEQ MSH6_05887 - - -
?/? 4 c.2684C>A - p.T895K 0.023 5.92 0.0063 Thompson et al., 2013 DNA SEQ MSH6_05888 - - -
?/? 4 c.2684C>G - p.T895R 0.041 6.52 0.0084 Thompson et al., 2013 DNA SEQ MSH6_05889 - - -
?/? 4 c.2684C>T - p.T895I 0.220 7.10 0.0216 Thompson et al., 2013 DNA SEQ MSH6_05890 - - -
?/? 4 c.2686A>C - p.K896Q 0.024 2.03 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05891 - - -
?/? 4 c.2686A>G - p.K896E 0.014 3.32 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05892 - - -
?/? 4 c.2687A>C - p.K896T 0.024 4.43 0.0033 Thompson et al., 2013 DNA SEQ MSH6_05893 - - -
?/? 4 c.2687A>G - p.K896R 0.024 2.18 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05894 - - -
?/? 4 c.2687A>T - p.K896I 0.099 7.83 0.0162 Thompson et al., 2013 DNA SEQ MSH6_05895 - - -
?/? 4 c.2688A>C - p.K896N 0.059 2.83 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05896 - - -
?/? 4 c.2688A>T - p.K896N 0.059 2.83 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05897 - - -
?/? 4 c.2689A>C - p.N897H 0.008 1.97 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05898 - - -
?/? 4 c.2689A>G - p.N897D 0.009 4.24 0.0028 Thompson et al., 2013 DNA SEQ MSH6_05899 - - -
?/? 4 c.2689A>T - p.N897Y 0.112 2.91 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05900 - - -
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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.