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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.2690A>C - p.N897T 0.001 1.97 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05901 - - -
?/? 4 c.2690A>G - p.N897S 0.001 1.35 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05902 - - -
?/? 4 c.2690A>T - p.N897I 0.015 2.84 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05903 - - -
?/? 4 c.2691T>A - p.N897K 0.009 3.80 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05904 - - -
?/? 4 c.2691T>G - p.N897K 0.009 3.80 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05905 - - -
?/? 4 c.2692C>A - p.P898T 0.024 2.18 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05906 - - -
?/? 4 c.2692C>G - p.P898A 0.033 3.34 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05907 - - -
?/? 4 c.2692C>T - p.P898S 0.007 1.80 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05908 - - -
?/? 4 c.2693C>A - p.P898H 0.480 3.39 0.0123 Thompson et al., 2013 DNA SEQ MSH6_05909 - - -
?/? 4 c.2693C>G - p.P898R 0.069 6.67 0.0100 Thompson et al., 2013 DNA SEQ MSH6_05910 - - -
?/? 4 c.2693C>T - p.P898L 0.024 6.06 0.0066 Thompson et al., 2013 DNA SEQ MSH6_05911 - - -
?/? 4 c.2695G>A - p.E899K 0.007 2.44 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05912 - - -
?/? 4 c.2695G>C - p.E899Q 0.040 2.13 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05913 - - -
?/? 4 c.2696A>C - p.E899A 0.097 4.58 0.0048 Thompson et al., 2013 DNA SEQ MSH6_05914 - - -
?/? 4 c.2696A>G - p.E899G 0.001 2.49 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05915 - - -
?/? 4 c.2696A>T - p.E899V 0.160 9.71 0.0336 Thompson et al., 2013 DNA SEQ MSH6_05916 - - -
?/? 4 c.2697A>C - p.E899D 0.004 2.55 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05917 - - -
?/? 4 c.2697A>T - p.E899D 0.004 2.55 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05918 - - -
?/? 4 c.2698G>A - p.G900S 0.998 7.50 0.4074 Thompson et al., 2013 DNA SEQ MSH6_05919 - - -
?/? 4 c.2698G>C - p.G900R 0.998 36.52 0.9615 Thompson et al., 2013 DNA SEQ MSH6_05920 - - -
?/? 4 c.2698G>T - p.G900C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_05921 - - -
?/? 4 c.2699G>A - p.G900D 0.999 35.86 0.9601 Thompson et al., 2013 DNA SEQ MSH6_05922 - - -
?/? 4 c.2699G>C - p.G900A 0.998 22.05 0.8883 Thompson et al., 2013 DNA SEQ MSH6_05923 - - -
?/? 4 c.2699G>T - p.G900V 0.999 29.36 0.9386 Thompson et al., 2013 DNA SEQ MSH6_05924 - - -
?/? 4 c.2701C>A - p.R901S 0.097 11.03 0.0343 Thompson et al., 2013 DNA SEQ MSH6_05925 - - -
?/? 4 c.2701C>G - p.R901G 0.097 13.80 0.0558 Thompson et al., 2013 DNA SEQ MSH6_05926 - - -
?/? 4 c.2701C>T - p.R901C 0.289 12.62 0.0985 Thompson et al., 2013 DNA SEQ MSH6_05927 - - -
?/? 4 c.2702G>A - p.R901H 0.063 4.23 0.0035 Thompson et al., 2013 DNA SEQ MSH6_05928 - - -
?/? 4 c.2702G>C - p.R901P 0.713 12.78 0.4064 Thompson et al., 2013 DNA SEQ MSH6_05929 - - -
?/? 4 c.2702G>T - p.R901L 0.050 4.08 0.0030 Thompson et al., 2013 DNA SEQ MSH6_05930 - - -
?/? 4 c.2704T>A - p.F902I 0.501 8.68 0.1034 Thompson et al., 2013 DNA SEQ MSH6_05931 - - -
?/? 4 c.2704T>C - p.F902L 0.175 11.19 0.0487 Thompson et al., 2013 DNA SEQ MSH6_05932 - - -
?/? 4 c.2704T>G - p.F902V 0.164 15.78 0.0963 Thompson et al., 2013 DNA SEQ MSH6_05933 - - -
?/? 4 c.2705T>A - p.F902Y 0.164 6.29 0.0130 Thompson et al., 2013 DNA SEQ MSH6_05934 - - -
?/? 4 c.2705T>C - p.F902S 0.543 16.40 0.3689 Thompson et al., 2013 DNA SEQ MSH6_05935 - - -
?/? 4 c.2705T>G - p.F902C 0.977 16.03 0.7790 Thompson et al., 2013 DNA SEQ MSH6_05936 - - -
?/? 4 c.2706T>A - p.F902L 0.175 11.19 0.0487 Thompson et al., 2013 DNA SEQ MSH6_05937 - - -
?/? 4 c.2706T>G - p.F902L 0.175 11.19 0.0487 Thompson et al., 2013 DNA SEQ MSH6_05938 - - -
?/? 4 c.2707C>A - p.P903T 0.953 17.77 0.8009 Thompson et al., 2013 DNA SEQ MSH6_05939 - - -
?/? 4 c.2707C>G - p.P903A 0.994 20.00 0.8623 Thompson et al., 2013 DNA SEQ MSH6_05940 - - -
?/? 4 c.2707C>T - p.P903S 0.954 17.50 0.7960 Thompson et al., 2013 DNA SEQ MSH6_05941 - - -
?/? 4 c.2708C>A - p.P903H 0.994 19.31 0.8526 Thompson et al., 2013 DNA SEQ MSH6_05942 - - -
?/? 4 c.2708C>G - p.P903R 0.990 41.48 0.9699 Thompson et al., 2013 DNA SEQ MSH6_05943 - - -
?/? 4 c.2708C>T - p.P903L 0.933 26.92 0.9046 Thompson et al., 2013 DNA SEQ MSH6_05944 - - -
?/? 4 c.2710G>A - p.D904N 0.037 3.37 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05945 - - -
?/? 4 c.2710G>C - p.D904H 0.066 4.65 0.0044 Thompson et al., 2013 DNA SEQ MSH6_05946 - - -
?/? 4 c.2710G>T - p.D904Y 0.659 8.18 0.1650 Thompson et al., 2013 DNA SEQ MSH6_05947 - - -
?/? 4 c.2711A>C - p.D904A 0.092 21.12 0.1319 Thompson et al., 2013 DNA SEQ MSH6_05948 - - -
?/? 4 c.2711A>G - p.D904G 0.107 10.95 0.0352 Thompson et al., 2013 DNA SEQ MSH6_05949 - - -
?/? 4 c.2711A>T - p.D904V 0.066 31.10 0.2467 Thompson et al., 2013 DNA SEQ MSH6_05950 - - -
?/? 4 c.2712T>A - p.D904E 0.011 4.45 0.0031 Thompson et al., 2013 DNA SEQ MSH6_05951 - - -
?/? 4 c.2712T>G - p.D904E 0.011 4.45 0.0031 Thompson et al., 2013 DNA SEQ MSH6_05952 - - -
?/? 4 c.2713T>A - p.L905M 0.559 3.87 0.0230 Thompson et al., 2013 DNA SEQ MSH6_05953 - - -
?/? 4 c.2713T>G - p.L905V 0.268 12.64 0.0912 Thompson et al., 2013 DNA SEQ MSH6_05954 - - -
?/? 4 c.2714T>C - p.L905S 0.956 8.80 0.4525 Thompson et al., 2013 DNA SEQ MSH6_05955 - - -
?/? 4 c.2714T>G - p.L905W 0.993 8.19 0.4511 Thompson et al., 2013 DNA SEQ MSH6_05956 - - -
?/? 4 c.2715G>C - p.L905F 0.797 4.85 0.0979 Thompson et al., 2013 DNA SEQ MSH6_05957 - - -
?/? 4 c.2715G>T - p.L905F 0.797 4.85 0.0979 Thompson et al., 2013 DNA SEQ MSH6_05958 - - -
?/? 4 c.2716A>C - p.T906P 0.036 7.43 0.0111 Thompson et al., 2013 DNA SEQ MSH6_05959 - - -
?/? 4 c.2716A>G - p.T906A 0.028 5.29 0.0050 Thompson et al., 2013 DNA SEQ MSH6_05960 - - -
?/? 4 c.2716A>T - p.T906S 0.002 0.80 0.0001 Thompson et al., 2013 DNA SEQ MSH6_05961 - - -
?/? 4 c.2717C>A - p.T906N 0.050 3.01 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05962 - - -
?/? 4 c.2717C>G - p.T906S 0.002 0.80 0.0001 Thompson et al., 2013 DNA SEQ MSH6_05963 - - -
?/? 4 c.2717C>T - p.T906I 0.084 7.38 0.0133 Thompson et al., 2013 DNA SEQ MSH6_05964 - - -
?/? 4 c.2719G>A - p.V907I 0.001 3.65 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05965 - - -
?/? 4 c.2719G>C - p.V907L 0.000 3.60 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05966 - - -
?/? 4 c.2719G>T - p.V907L 0.000 3.60 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05967 - - -
?/? 4 c.2720T>A - p.V907E 0.000 4.58 0.0032 Thompson et al., 2013 DNA SEQ MSH6_05968 - - -
?/? 4 c.2720T>C - p.V907A 0.000 2.56 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05969 - - -
?/? 4 c.2720T>G - p.V907G 0.000 2.23 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05970 - - -
?/? 4 c.2722G>A - p.E908K 0.051 5.12 0.0051 Thompson et al., 2013 DNA SEQ MSH6_05971 - - -
?/? 4 c.2722G>C - p.E908Q 0.083 2.50 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05972 - - -
?/? 4 c.2723A>C - p.E908A 0.069 7.60 0.0134 Thompson et al., 2013 DNA SEQ MSH6_05973 - - -
?/? 4 c.2723A>G - p.E908G 0.083 8.43 0.0179 Thompson et al., 2013 DNA SEQ MSH6_05974 - - -
?/? 4 c.2723A>T - p.E908V 0.014 9.37 0.0169 Thompson et al., 2013 DNA SEQ MSH6_05975 - - -
?/? 4 c.2724A>C - p.E908D 0.048 2.90 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05976 - - -
?/? 4 c.2724A>T - p.E908D 0.048 2.90 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05977 - - -
?/? 4 c.2725T>A - p.L909M 0.966 10.65 0.5708 Thompson et al., 2013 DNA SEQ MSH6_05978 - - -
?/? 4 c.2725T>G - p.L909V 0.173 25.80 0.2526 Thompson et al., 2013 DNA SEQ MSH6_05979 - - -
?/? 4 c.2726T>C - p.L909S 0.956 22.76 0.8772 Thompson et al., 2013 DNA SEQ MSH6_05980 - - -
?/? 4 c.2726T>G - p.L909W 0.996 22.06 0.8875 Thompson et al., 2013 DNA SEQ MSH6_05981 - - -
?/? 4 c.2727G>C - p.L909F 0.973 12.59 0.6670 Thompson et al., 2013 DNA SEQ MSH6_05982 - - -
?/? 4 c.2727G>T - p.L909F 0.973 12.59 0.6670 Thompson et al., 2013 DNA SEQ MSH6_05983 - - -
?/? 4 c.2728A>C - p.N910H 0.012 3.24 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05984 - - -
?/? 4 c.2728A>G - p.N910D 0.007 3.51 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05985 - - -
?/? 4 c.2728A>T - p.N910Y 0.012 5.95 0.0061 Thompson et al., 2013 DNA SEQ MSH6_05986 - - -
?/? 4 c.2729A>C - p.N910T 0.002 5.85 0.0056 Thompson et al., 2013 DNA SEQ MSH6_05987 - - -
?/? 4 c.2729A>G - p.N910S 0.004 4.37 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05988 - - -
?/? 4 c.2729A>T - p.N910I 0.056 6.38 0.0085 Thompson et al., 2013 DNA SEQ MSH6_05989 - - -
?/? 4 c.2730C>A - p.N910K 0.002 1.42 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05990 - - -
?/? 4 c.2730C>G - p.N910K 0.002 1.42 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05991 - - -
?/? 4 c.2731C>G - p.R911G 0.134 6.26 0.0114 Thompson et al., 2013 DNA SEQ MSH6_05992 - - -
?/? 4 c.2732G>A - p.R911Q 0.058 1.95 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05993 - - -
?/? 4 c.2732G>C - p.R911P 0.084 13.97 0.0544 Thompson et al., 2013 DNA SEQ MSH6_05994 - - -
?/? 4 c.2732G>T - p.R911L 0.115 2.70 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05995 - - -
?/? 4 c.2734T>A - p.W912R 0.848 33.70 0.9166 Thompson et al., 2013 DNA SEQ MSH6_05996 - - -
?/? 4 c.2734T>C - p.W912R 0.848 33.70 0.9166 Thompson et al., 2013 DNA SEQ MSH6_05997 - - -
?/? 4 c.2734T>G - p.W912G 0.752 16.07 0.5762 Thompson et al., 2013 DNA SEQ MSH6_05998 - - -
?/? 4 c.2735G>C - p.W912S 0.643 9.65 0.2117 Thompson et al., 2013 DNA SEQ MSH6_05999 - - -
?/? 4 c.2735G>T - p.W912L 0.016 9.70 0.0184 Thompson et al., 2013 DNA SEQ MSH6_06000 - - -
5901 - 6000
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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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