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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.2336G>A - p.C779Y 0.922 10.84 0.5344 Thompson et al., 2013 DNA SEQ MSH6_05101 - - -
?/? 4 c.2336G>C - p.C779S 0.294 7.13 0.0296 Thompson et al., 2013 DNA SEQ MSH6_05102 - - -
?/? 4 c.2336G>T - p.C779F 0.922 12.01 0.5915 Thompson et al., 2013 DNA SEQ MSH6_05103 - - -
?/? 4 c.2337T>G - p.C779W 0.963 17.23 0.7965 Thompson et al., 2013 DNA SEQ MSH6_05104 - - -
?/? 4 c.2338G>A - p.A780T 0.109 7.87 0.0171 Thompson et al., 2013 DNA SEQ MSH6_05105 - - -
?/? 4 c.2338G>C - p.A780P 0.833 12.94 0.5400 Thompson et al., 2013 DNA SEQ MSH6_05106 - - -
?/? 4 c.2338G>T - p.A780S 0.043 6.26 0.0077 Thompson et al., 2013 DNA SEQ MSH6_05107 - - -
?/? 4 c.2339C>A - p.A780D 0.731 40.23 0.9089 Thompson et al., 2013 DNA SEQ MSH6_05108 - - -
?/? 4 c.2339C>G - p.A780G 0.510 6.47 0.0579 Thompson et al., 2013 DNA SEQ MSH6_05109 - - -
?/? 4 c.2339C>T - p.A780V 0.109 6.35 0.0106 Thompson et al., 2013 DNA SEQ MSH6_05110 - - -
?/? 4 c.2341C>A - p.P781T 1.000 17.77 0.8309 Thompson et al., 2013 DNA SEQ MSH6_05111 - - -
?/? 4 c.2341C>G - p.P781A 1.000 20.00 0.8653 Thompson et al., 2013 DNA SEQ MSH6_05112 - - -
?/? 4 c.2341C>T - p.P781S 1.000 17.50 0.8260 Thompson et al., 2013 DNA SEQ MSH6_05113 - - -
?/? 4 c.2342C>A - p.P781Q 1.000 17.67 0.8291 Thompson et al., 2013 DNA SEQ MSH6_05114 - - -
?/? 4 c.2342C>G - p.P781R 1.000 41.48 0.9711 Thompson et al., 2013 DNA SEQ MSH6_05115 - - -
?/? 4 c.2342C>T - p.P781L 1.000 26.92 0.9265 Thompson et al., 2013 DNA SEQ MSH6_05116 - - -
?/? 4 c.2344C>A - p.L782I 0.994 1.40 0.0147 Thompson et al., 2013 DNA SEQ MSH6_05117 - - -
?/? 4 c.2344C>G - p.L782V 0.923 2.79 0.0503 Thompson et al., 2013 DNA SEQ MSH6_05118 - - -
?/? 4 c.2344C>T - p.L782F 0.997 2.77 0.0666 Thompson et al., 2013 DNA SEQ MSH6_05119 - - -
?/? 4 c.2345T>A - p.L782H 0.999 11.73 0.6558 Thompson et al., 2013 DNA SEQ MSH6_05120 - - -
?/? 4 c.2345T>C - p.L782P 0.890 3.13 0.0563 Thompson et al., 2013 DNA SEQ MSH6_05121 - - -
?/? 4 c.2345T>G - p.L782R 0.998 26.95 0.9261 Thompson et al., 2013 DNA SEQ MSH6_05122 - - -
?/? 4 c.2347T>A - p.C783S 0.194 14.04 0.0850 Thompson et al., 2013 DNA SEQ MSH6_05123 - - -
?/? 4 c.2347T>C - p.C783R 0.101 34.86 0.3300 Thompson et al., 2013 DNA SEQ MSH6_05124 - - -
?/? 4 c.2347T>G - p.C783G 0.298 15.41 0.1516 Thompson et al., 2013 DNA SEQ MSH6_05125 - - -
?/? 4 c.2348G>A - p.C783Y 0.125 21.23 0.1504 Thompson et al., 2013 DNA SEQ MSH6_05126 - - -
?/? 4 c.2348G>C - p.C783S 0.194 14.04 0.0850 Thompson et al., 2013 DNA SEQ MSH6_05127 - - -
?/? 4 c.2348G>T - p.C783F 0.201 21.32 0.1981 Thompson et al., 2013 DNA SEQ MSH6_05128 - - -
?/? 4 c.2349T>G - p.C783W 0.900 32.95 0.9287 Thompson et al., 2013 DNA SEQ MSH6_05129 - - -
?/? 4 c.2350A>C - p.N784H 0.025 6.39 0.0075 Thompson et al., 2013 DNA SEQ MSH6_05130 - - -
?/? 4 c.2350A>G - p.N784D 0.001 5.14 0.0042 Thompson et al., 2013 DNA SEQ MSH6_05131 - - -
?/? 4 c.2350A>T - p.N784Y 0.199 11.68 0.0588 Thompson et al., 2013 DNA SEQ MSH6_05132 - - -
?/? 4 c.2351A>C - p.N784T 0.015 8.18 0.0126 Thompson et al., 2013 DNA SEQ MSH6_05133 - - -
?/? 4 c.2351A>G - p.N784S 0.001 6.75 0.0077 Thompson et al., 2013 DNA SEQ MSH6_05134 - - -
?/? 4 c.2351A>T - p.N784I 0.025 15.32 0.0522 Thompson et al., 2013 DNA SEQ MSH6_05135 - - -
?/? 4 c.2352C>A - p.N784K 0.005 9.95 0.0186 Thompson et al., 2013 DNA SEQ MSH6_05136 - - -
?/? 4 c.2352C>G - p.N784K 0.005 9.95 0.0186 Thompson et al., 2013 DNA SEQ MSH6_05137 - - -
?/? 4 c.2353C>A - p.H785N 0.013 7.23 0.0094 Thompson et al., 2013 DNA SEQ MSH6_05138 - - -
?/? 4 c.2353C>G - p.H785D 0.005 20.73 0.0914 Thompson et al., 2013 DNA SEQ MSH6_05139 - - -
?/? 4 c.2353C>T - p.H785Y 0.001 5.41 0.0047 Thompson et al., 2013 DNA SEQ MSH6_05140 - - -
?/? 4 c.2354A>C - p.H785P 0.000 0.53 2.39E-05 Thompson et al., 2013 DNA SEQ MSH6_05141 - - -
?/? 4 c.2354A>G - p.H785R 0.000 21.45 0.0961 Thompson et al., 2013 DNA SEQ MSH6_05142 - - -
?/? 4 c.2354A>T - p.H785L 0.000 4.81 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05143 - - -
?/? 4 c.2355T>A - p.H785Q 0.000 6.12 0.0061 Thompson et al., 2013 DNA SEQ MSH6_05144 - - -
?/? 4 c.2355T>G - p.H785Q 0.000 6.12 0.0061 Thompson et al., 2013 DNA SEQ MSH6_05145 - - -
?/? 4 c.2356T>A - p.Y786N 0.000 1.63 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05146 - - -
?/? 4 c.2356T>C - p.Y786H 0.000 1.97 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05147 - - -
?/? 4 c.2356T>G - p.Y786D 0.000 2.88 0.0011 Thompson et al., 2013 DNA SEQ MSH6_05148 - - -
?/? 4 c.2357A>C - p.Y786S 0.000 1.73 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05149 - - -
?/? 4 c.2357A>G - p.Y786C 0.001 3.09 0.0013 Thompson et al., 2013 DNA SEQ MSH6_05150 - - -
?/? 4 c.2357A>T - p.Y786F 0.000 2.39 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05151 - - -
?/? 4 c.2359G>A - p.A787T 0.040 3.20 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05152 - - -
?/? 4 c.2359G>C - p.A787P 0.329 7.72 0.0407 Thompson et al., 2013 DNA SEQ MSH6_05153 - - -
?/? 4 c.2359G>T - p.A787S 0.006 1.87 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05154 - - -
?/? 4 c.2360C>A - p.A787D 0.012 34.94 0.2531 Thompson et al., 2013 DNA SEQ MSH6_05155 - - -
?/? 4 c.2360C>G - p.A787G 0.023 2.75 0.0011 Thompson et al., 2013 DNA SEQ MSH6_05156 - - -
?/? 4 c.2360C>T - p.A787V 0.006 3.51 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05157 - - -
?/? 4 c.2362A>C - p.I788L 0.726 10.44 0.3138 Thompson et al., 2013 DNA SEQ MSH6_05158 - - -
?/? 4 c.2362A>G - p.I788V 0.823 10.65 0.4197 Thompson et al., 2013 DNA SEQ MSH6_05159 - - -
?/? 4 c.2362A>T - p.I788F 0.982 10.65 0.5874 Thompson et al., 2013 DNA SEQ MSH6_05160 - - -
?/? 4 c.2363T>A - p.I788N 0.996 17.95 0.8317 Thompson et al., 2013 DNA SEQ MSH6_05161 - - -
?/? 4 c.2363T>C - p.I788T 0.953 19.60 0.8340 Thompson et al., 2013 DNA SEQ MSH6_05162 - - -
?/? 4 c.2363T>G - p.I788S 0.990 20.83 0.8710 Thompson et al., 2013 DNA SEQ MSH6_05163 - - -
?/? 4 c.2364T>G - p.I788M 0.990 15.70 0.7804 Thompson et al., 2013 DNA SEQ MSH6_05164 - - -
?/? 4 c.2365A>C - p.N789H 0.461 6.61 0.0498 Thompson et al., 2013 DNA SEQ MSH6_05165 - - -
?/? 4 c.2365A>G - p.N789D 0.013 4.73 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05166 - - -
?/? 4 c.2365A>T - p.N789Y 0.066 11.29 0.0318 Thompson et al., 2013 DNA SEQ MSH6_05167 - - -
?/? 4 c.2366A>C - p.N789T 0.019 9.60 0.0183 Thompson et al., 2013 DNA SEQ MSH6_05168 - - -
?/? 4 c.2366A>G - p.N789S 0.011 5.16 0.0044 Thompson et al., 2013 DNA SEQ MSH6_05169 - - -
?/? 4 c.2366A>T - p.N789I 0.063 11.85 0.0349 Thompson et al., 2013 DNA SEQ MSH6_05170 - - -
?/? 4 c.2367T>A - p.N789K 0.011 5.56 0.0052 Thompson et al., 2013 DNA SEQ MSH6_05171 - - -
?/? 4 c.2367T>G - p.N789K 0.011 5.56 0.0052 Thompson et al., 2013 DNA SEQ MSH6_05172 - - -
?/? 4 c.2368G>A - p.D790N 0.293 13.97 0.1228 Thompson et al., 2013 DNA SEQ MSH6_05173 - - -
?/? 4 c.2368G>C - p.D790H 0.219 20.32 0.1930 Thompson et al., 2013 DNA SEQ MSH6_05174 - - -
?/? 4 c.2368G>T - p.D790Y 0.884 21.06 0.8151 Thompson et al., 2013 DNA SEQ MSH6_05175 - - -
?/? 4 c.2369A>C - p.D790A 0.069 29.51 0.2275 Thompson et al., 2013 DNA SEQ MSH6_05176 - - -
?/? 4 c.2369A>G - p.D790G 0.086 20.85 0.1258 Thompson et al., 2013 DNA SEQ MSH6_05177 - - -
?/? 4 c.2369A>T - p.D790V 0.520 22.25 0.5144 Thompson et al., 2013 DNA SEQ MSH6_05178 - - -
?/? 4 c.2370T>A - p.D790E 0.029 23.98 0.1342 Thompson et al., 2013 DNA SEQ MSH6_05179 - - -
?/? 4 c.2370T>G - p.D790E 0.029 23.98 0.1342 Thompson et al., 2013 DNA SEQ MSH6_05180 - - -
?/? 4 c.2371C>A - p.R791S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_05181 - - -
?/? 4 c.2371C>G - p.R791G 1.000 25.90 0.9204 Thompson et al., 2013 DNA SEQ MSH6_05182 - - -
?/? 4 c.2371C>T - p.R791C 1.000 29.01 0.9373 Thompson et al., 2013 DNA SEQ MSH6_05183 - - -
?/? 4 c.2372G>A - p.R791H 1.000 14.41 0.7533 Thompson et al., 2013 DNA SEQ MSH6_05184 - - -
?/? 4 c.2372G>C - p.R791P 1.000 40.70 0.9699 Thompson et al., 2013 DNA SEQ MSH6_05185 - - -
?/? 4 c.2372G>T - p.R791L 1.000 19.03 0.8516 Thompson et al., 2013 DNA SEQ MSH6_05186 - - -
?/? 4 c.2374C>A - p.L792I 0.717 15.46 0.5176 Thompson et al., 2013 DNA SEQ MSH6_05187 - - -
?/? 4 c.2374C>G - p.L792V 0.503 25.80 0.5796 Thompson et al., 2013 DNA SEQ MSH6_05188 - - -
?/? 4 c.2375T>A - p.L792Q 0.312 15.01 0.1516 Thompson et al., 2013 DNA SEQ MSH6_05189 - - -
?/? 4 c.2375T>C - p.L792P 0.984 36.32 0.9588 Thompson et al., 2013 DNA SEQ MSH6_05190 - - -
?/? 4 c.2375T>G - p.L792R 0.979 33.02 0.9483 Thompson et al., 2013 DNA SEQ MSH6_05191 - - -
?/? 4 c.2377G>A - p.D793N 0.153 6.33 0.0126 Thompson et al., 2013 DNA SEQ MSH6_05192 - - -
?/? 4 c.2377G>C - p.D793H 0.683 12.25 0.3537 Thompson et al., 2013 DNA SEQ MSH6_05193 - - -
?/? 4 c.2377G>T - p.D793Y 0.796 18.19 0.6848 Thompson et al., 2013 DNA SEQ MSH6_05194 - - -
?/? 4 c.2378A>C - p.D793A 0.311 23.17 0.3228 Thompson et al., 2013 DNA SEQ MSH6_05195 - - -
?/? 4 c.2378A>G - p.D793G 0.683 17.30 0.5450 Thompson et al., 2013 DNA SEQ MSH6_05196 - - -
?/? 4 c.2378A>T - p.D793V 0.081 25.87 0.1869 Thompson et al., 2013 DNA SEQ MSH6_05197 - - -
?/? 4 c.2379T>A - p.D793E 0.090 22.58 0.1492 Thompson et al., 2013 DNA SEQ MSH6_05198 - - -
?/? 4 c.2379T>G - p.D793E 0.090 22.58 0.1492 Thompson et al., 2013 DNA SEQ MSH6_05199 - - -
?/? 4 c.2380G>A - p.A794T 0.953 33.24 0.9434 Thompson et al., 2013 DNA SEQ MSH6_05200 - - -
5101 - 5200
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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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