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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 MLH1_priors

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?/? 12 c.1282G>A - p.D428N 5.01 0.243 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02801 - - -
?/? 12 c.1282G>C - p.D428H 11.08 0.516 0.1762 Thompson et al., 2013 DNA SEQ MLH1_02802 - - -
?/? 12 c.1282G>T - p.D428Y 17.99 0.573 0.4504 Thompson et al., 2013 DNA SEQ MLH1_02803 - - -
?/? 12 c.1283A>C - p.D428A 22.89 0.11 0.1646 Thompson et al., 2013 DNA SEQ MLH1_02804 - - -
?/? 12 c.1283A>G - p.D428G 17.53 0.179 0.126 Thompson et al., 2013 DNA SEQ MLH1_02805 - - -
?/? 12 c.1283A>T - p.D428V 27.48 0.371 0.4755 Thompson et al., 2013 DNA SEQ MLH1_02806 - - -
?/? 12 c.1284T>A - p.D428E 22.04 0.008 0.1048 Thompson et al., 2013 DNA SEQ MLH1_02807 - - -
?/? 12 c.1284T>G - p.D428E 22.04 0.008 0.1048 Thompson et al., 2013 DNA SEQ MLH1_02808 - - -
?/? 12 c.1285G>A - p.E429K 3.82 0.001 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02809 - - -
?/? 12 c.1285G>C - p.E429Q 2.08 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02810 - - -
?/? 12 c.1286A>C - p.E429A 3.24 0.001 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02811 - - -
?/? 12 c.1286A>G - p.E429G 3.17 0.015 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02812 - - -
?/? 12 c.1286A>T - p.E429V 3.3 - 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02813 - - -
?/? 12 c.1287G>C - p.E429D 2.8 0.015 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02814 - - -
?/? 12 c.1287G>T - p.E429D 2.8 0.015 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02815 - - -
?/? 12 c.1288G>A - p.E430K 2.5 0.005 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02816 - - -
?/? 12 c.1288G>C - p.E430Q 1.72 0.112 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02817 - - -
?/? 12 c.1289A>C - p.E430A 2.54 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02818 - - -
?/? 12 c.1289A>G - p.E430G 1.95 0.003 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02819 - - -
?/? 12 c.1289A>T - p.E430V 3.78 0.046 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02820 - - -
?/? 12 c.1290G>C - p.E430D 2.48 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02821 - - -
?/? 12 c.1290G>T - p.E430D 2.48 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02822 - - -
?/? 12 c.1291A>C - p.M431L 2.32 0.004 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02823 - - -
?/? 12 c.1291A>G - p.M431V 2.54 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02824 - - -
?/? 12 c.1291A>T - p.M431L 2.32 0.004 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02825 - - -
?/? 12 c.1292T>A - p.M431K 4.48 0.015 0.0032 Thompson et al., 2013 DNA SEQ MLH1_02826 - - -
?/? 12 c.1292T>C - p.M431T 3.02 0.011 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02827 - - -
?/? 12 c.1292T>G - p.M431R 5.25 0.001 0.0044 Thompson et al., 2013 DNA SEQ MLH1_02828 - - -
?/? 12 c.1293G>A - p.M431I 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02829 - - -
?/? 12 c.1293G>C - p.M431I 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02830 - - -
?/? 12 c.1293G>T - p.M431I 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02831 - - -
?/? 12 c.1294C>A - p.L432I 1.74 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02832 - - -
?/? 12 c.1294C>G - p.L432V 2.04 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02833 - - -
?/? 12 c.1294C>T - p.L432F 1.99 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02834 - - -
?/? 12 c.1295T>A - p.L432H 2.63 0.064 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02835 - - -
?/? 12 c.1295T>C - p.L432P 2.6 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02836 - - -
?/? 12 c.1295T>G - p.L432R 4.66 0.01 0.0035 Thompson et al., 2013 DNA SEQ MLH1_02837 - - -
?/? 12 c.1297G>A - p.E433K 4.21 0.026 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02838 - - -
?/? 12 c.1297G>C - p.E433Q 2.6 0.105 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02839 - - -
?/? 12 c.1298A>C - p.E433A 5.44 0.001 0.0047 Thompson et al., 2013 DNA SEQ MLH1_02840 - - -
?/? 12 c.1298A>G - p.E433G 4.48 0.026 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02841 - - -
?/? 12 c.1298A>T - p.E433V 7.3 0.046 0.0111 Thompson et al., 2013 DNA SEQ MLH1_02842 - - -
?/? 12 c.1299A>C - p.E433D 1.86 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02843 - - -
?/? 12 c.1299A>T - p.E433D 1.86 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02844 - - -
?/? 12 c.1300C>A - p.L434I 1.63 0.004 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02845 - - -
?/? 12 c.1300C>G - p.L434V 1.65 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02846 - - -
?/? 12 c.1300C>T - p.L434F 2.53 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02847 - - -
?/? 12 c.1301T>A - p.L434H 2.49 0.156 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02848 - - -
?/? 12 c.1301T>C - p.L434P 7.9 0.001 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02849 - - -
?/? 12 c.1301T>G - p.L434R 3.61 0.108 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02850 - - -
?/? 12 c.1303C>A - p.P435T 3.38 0.011 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02851 - - -
?/? 12 c.1303C>G - p.P435A 2.57 0.004 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02852 - - -
?/? 12 c.1303C>T - p.P435S 2.8 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_02853 - - -
?/? 12 c.1304C>A - p.P435Q 6.28 0.068 0.0087 Thompson et al., 2013 DNA SEQ MLH1_02854 - - -
?/? 12 c.1304C>G - p.P435R 28.19 0.068 0.209 Thompson et al., 2013 DNA SEQ MLH1_02855 - - -
?/? 12 c.1304C>T - p.P435L 3.43 0.002 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02856 - - -
?/? 12 c.1306G>A - p.A436T 4.69 0.012 0.0035 Thompson et al., 2013 DNA SEQ MLH1_02857 - - -
?/? 12 c.1306G>C - p.A436P 7.3 0.031 0.0104 Thompson et al., 2013 DNA SEQ MLH1_02858 - - -
?/? 12 c.1306G>T - p.A436S 2.21 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02859 - - -
?/? 12 c.1307C>A - p.A436D 3.45 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02860 - - -
?/? 12 c.1307C>G - p.A436G 2.74 0.018 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02861 - - -
?/? 12 c.1307C>T - p.A436V 7.24 0.012 0.0094 Thompson et al., 2013 DNA SEQ MLH1_02862 - - -
?/? 12 c.1309C>A - p.P437T 2.73 0.102 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02863 - - -
?/? 12 c.1309C>G - p.P437A 3.22 0.005 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02864 - - -
?/? 12 c.1309C>T - p.P437S 3.29 0.102 0.0023 Thompson et al., 2013 DNA SEQ MLH1_02865 - - -
?/? 12 c.1310C>A - p.P437H 2.58 0.274 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02866 - - -
?/? 12 c.1310C>G - p.P437R 5.71 0.173 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02867 - - -
?/? 12 c.1310C>T - p.P437L 2.85 0.005 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02868 - - -
?/? 12 c.1312G>A - p.A438T 4.65 0.001 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02869 - - -
?/? 12 c.1312G>C - p.A438P 9.85 0.018 0.0193 Thompson et al., 2013 DNA SEQ MLH1_02870 - - -
?/? 12 c.1312G>T - p.A438S 3.72 - 0.002 Thompson et al., 2013 DNA SEQ MLH1_02871 - - -
?/? 12 c.1313C>A - p.A438D 11.1 - 0.0233 Thompson et al., 2013 DNA SEQ MLH1_02872 - - -
?/? 12 c.1313C>G - p.A438G 4.59 0.01 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02873 - - -
?/? 12 c.1313C>T - p.A438V 3.6 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02874 - - -
?/? 12 c.1315G>A - p.E439K 4.68 0.007 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02875 - - -
?/? 12 c.1315G>C - p.E439Q 2.85 0.001 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02876 - - -
?/? 12 c.1316A>C - p.E439A 5.18 - 0.0042 Thompson et al., 2013 DNA SEQ MLH1_02877 - - -
?/? 12 c.1316A>G - p.E439G 5.4 0.01 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02878 - - -
?/? 12 c.1316A>T - p.E439V 6.41 0.007 0.007 Thompson et al., 2013 DNA SEQ MLH1_02879 - - -
?/? 12 c.1317A>C - p.E439D 1.83 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02880 - - -
?/? 12 c.1317A>T - p.E439D 1.83 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02881 - - -
?/? 12 c.1318G>A - p.V440M 2.39 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02882 - - -
?/? 12 c.1318G>C - p.V440L 2.31 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02883 - - -
?/? 12 c.1318G>T - p.V440L 2.31 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02884 - - -
?/? 12 c.1319T>A - p.V440E 4.54 0.001 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02885 - - -
?/? 12 c.1319T>C - p.V440A 2.62 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02886 - - -
?/? 12 c.1319T>G - p.V440G 2 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02887 - - -
?/? 12 c.1321G>A - p.A441T 7.79 0.001 0.0106 Thompson et al., 2013 DNA SEQ MLH1_02888 - - -
?/? 12 c.1321G>C - p.A441P 15.9 0.027 0.057 Thompson et al., 2013 DNA SEQ MLH1_02889 - - -
?/? 12 c.1321G>T - p.A441S 6.27 0.001 0.0065 Thompson et al., 2013 DNA SEQ MLH1_02890 - - -
?/? 12 c.1322C>A - p.A441D 7.12 0.001 0.0087 Thompson et al., 2013 DNA SEQ MLH1_02891 - - -
?/? 12 c.1322C>G - p.A441G 7.95 0.015 0.0118 Thompson et al., 2013 DNA SEQ MLH1_02892 - - -
?/? 12 c.1322C>T - p.A441V 8.11 0.001 0.0116 Thompson et al., 2013 DNA SEQ MLH1_02893 - - -
?/? 12 c.1324G>A - p.A442T 2.76 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_02894 - - -
?/? 12 c.1324G>C - p.A442P 3.91 0.001 0.0022 Thompson et al., 2013 DNA SEQ MLH1_02895 - - -
?/? 12 c.1324G>T - p.A442S 3.52 0.001 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02896 - - -
?/? 12 c.1325C>A - p.A442D 1.59 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02897 - - -
?/? 12 c.1325C>G - p.A442G 6.04 - 0.006 Thompson et al., 2013 DNA SEQ MLH1_02898 - - -
?/? 12 c.1325C>T - p.A442V 4.86 - 0.0036 Thompson et al., 2013 DNA SEQ MLH1_02899 - - -
?/? 12 c.1327A>C - p.K443Q 2.74 0.002 0.001 Thompson et al., 2013 DNA SEQ MLH1_02900 - - -
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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: [ MLH1_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. MAPP score: output score from MAPP Custom PP2.1 score: Custom PolyPhen 2.1 score 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. MLH1 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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