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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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?/? 9 c.781T>G - p.F261V 17.61 0.999 0.8274 Thompson et al., 2013 DNA SEQ MLH1_01911 - - -
?/? 9 c.782T>A - p.F261Y 16.28 0.999 0.8004 Thompson et al., 2013 DNA SEQ MLH1_01912 - - -
?/? 9 c.782T>C - p.F261S 19.43 0.999 0.857 Thompson et al., 2013 DNA SEQ MLH1_01913 - - -
?/? 9 c.782T>G - p.F261C 17.91 1 0.8334 Thompson et al., 2013 DNA SEQ MLH1_01914 - - -
?/? 9 c.783C>A - p.F261L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_01915 - - -
?/? 9 c.783C>G - p.F261L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_01916 - - -
?/? 9 c.784A>C - p.I262L 10.44 0.993 0.5878 Thompson et al., 2013 DNA SEQ MLH1_01917 - - -
?/? 9 c.784A>G - p.I262V 10.65 0.993 0.5987 Thompson et al., 2013 DNA SEQ MLH1_01918 - - -
?/? 9 c.784A>T - p.I262F 10.65 0.999 0.6048 Thompson et al., 2013 DNA SEQ MLH1_01919 - - -
?/? 9 c.785T>A - p.I262N 17.95 0.999 0.8335 Thompson et al., 2013 DNA SEQ MLH1_01920 - - -
?/? 9 c.785T>C - p.I262T 19.6 0.999 0.8594 Thompson et al., 2013 DNA SEQ MLH1_01921 - - -
?/? 9 c.785T>G - p.I262S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_01922 - - -
?/? 9 c.786C>G - p.I262M 15.7 0.999 0.7869 Thompson et al., 2013 DNA SEQ MLH1_01923 - - -
?/? 9 c.787A>C - p.N263H 14.29 1 0.7497 Thompson et al., 2013 DNA SEQ MLH1_01924 - - -
?/? 9 c.787A>G - p.N263D 29.27 0.999 0.9382 Thompson et al., 2013 DNA SEQ MLH1_01925 - - -
?/? 9 c.787A>T - p.N263Y 20.2 1 0.8679 Thompson et al., 2013 DNA SEQ MLH1_01926 - - -
?/? 9 c.788A>C - p.N263T 16.73 1 0.8108 Thompson et al., 2013 DNA SEQ MLH1_01927 - - -
?/? 9 c.788A>G - p.N263S 13.4 0.999 0.7205 Thompson et al., 2013 DNA SEQ MLH1_01928 - - -
?/? 9 c.788A>T - p.N263I 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_01929 - - -
?/? 9 c.789C>A - p.N263K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_01930 - - -
?/? 9 c.789C>G - p.N263K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_01931 - - -
?/? 9 c.790C>A - p.H264N 3.02 0.084 0.0018 Thompson et al., 2013 DNA SEQ MLH1_01932 - - -
?/? 9 c.790C>G - p.H264D 7.48 0.135 0.017 Thompson et al., 2013 DNA SEQ MLH1_01933 - - -
?/? 9 c.790C>T - p.H264Y 4.93 0.844 0.121 Thompson et al., 2013 DNA SEQ MLH1_01934 - - -
?/? 10 c.791A>C - p.H264P 10.99 0.882 0.4996 Thompson et al., 2013 DNA SEQ MLH1_01935 - - -
?/? 10 c.791A>G - p.H264R 5.01 0.763 0.0918 Thompson et al., 2013 DNA SEQ MLH1_01936 - - -
?/? 10 c.791A>T - p.H264L 6.35 0.659 0.1001 Thompson et al., 2013 DNA SEQ MLH1_01937 - - -
?/? 10 c.792T>A - p.H264Q 2.78 0.215 0.0026 Thompson et al., 2013 DNA SEQ MLH1_01938 - - -
?/? 10 c.792T>G - p.H264Q 2.78 0.215 0.0026 Thompson et al., 2013 DNA SEQ MLH1_01939 - - -
?/? 10 c.793C>A - p.R265S 21.57 0.999 0.8837 Thompson et al., 2013 DNA SEQ MLH1_01940 - - -
?/? 10 c.793C>G - p.R265G 25.9 0.999 0.92 Thompson et al., 2013 DNA SEQ MLH1_01941 - - -
?/? 10 c.793C>T - p.R265C 29.01 1 0.9373 Thompson et al., 2013 DNA SEQ MLH1_01942 - - -
?/? 10 c.794G>A - p.R265H 14.41 0.999 0.7525 Thompson et al., 2013 DNA SEQ MLH1_01943 - - -
?/? 10 c.794G>C - p.R265P 40.7 1 0.9699 Thompson et al., 2013 DNA SEQ MLH1_01944 - - -
?/? 10 c.794G>T - p.R265L 19.03 0.999 0.8511 Thompson et al., 2013 DNA SEQ MLH1_01945 - - -
?/? 10 c.796C>A - p.L266M 10.65 0.998 0.6038 Thompson et al., 2013 DNA SEQ MLH1_01946 - - -
?/? 10 c.796C>G - p.L266V 25.8 0.996 0.9184 Thompson et al., 2013 DNA SEQ MLH1_01947 - - -
?/? 10 c.797T>A - p.L266Q 15.01 0.999 0.7693 Thompson et al., 2013 DNA SEQ MLH1_01948 - - -
?/? 10 c.797T>C - p.L266P 36.32 0.999 0.9612 Thompson et al., 2013 DNA SEQ MLH1_01949 - - -
?/? 10 c.797T>G - p.L266R 33.02 0.999 0.9523 Thompson et al., 2013 DNA SEQ MLH1_01950 - - -
?/? 10 c.799G>A - p.V267I 11.96 0.997 0.6638 Thompson et al., 2013 DNA SEQ MLH1_01951 - - -
?/? 10 c.799G>C - p.V267L 20.81 0.997 0.8741 Thompson et al., 2013 DNA SEQ MLH1_01952 - - -
?/? 10 c.799G>T - p.V267L 20.81 0.997 0.8741 Thompson et al., 2013 DNA SEQ MLH1_01953 - - -
?/? 10 c.800T>A - p.V267E 32.45 0.999 0.9505 Thompson et al., 2013 DNA SEQ MLH1_01954 - - -
?/? 10 c.800T>C - p.V267A 27.75 0.999 0.9308 Thompson et al., 2013 DNA SEQ MLH1_01955 - - -
?/? 10 c.800T>G - p.V267G 23.22 0.999 0.8998 Thompson et al., 2013 DNA SEQ MLH1_01956 - - -
?/? 10 c.802G>A - p.E268K 18.43 0.18 0.1396 Thompson et al., 2013 DNA SEQ MLH1_01957 - - -
?/? 10 c.802G>C - p.E268Q 14.14 0.843 0.5998 Thompson et al., 2013 DNA SEQ MLH1_01958 - - -
?/? 10 c.803A>C - p.E268A 22.71 0.891 0.8435 Thompson et al., 2013 DNA SEQ MLH1_01959 - - -
?/? 10 c.803A>G - p.E268G 17.97 0.829 0.7087 Thompson et al., 2013 DNA SEQ MLH1_01960 - - -
?/? 10 c.803A>T - p.E268V 26.08 0.899 0.8842 Thompson et al., 2013 DNA SEQ MLH1_01961 - - -
?/? 10 c.804A>C - p.E268D 1.76 0.038 0.0004 Thompson et al., 2013 DNA SEQ MLH1_01962 - - -
?/? 10 c.804A>T - p.E268D 1.76 0.038 0.0004 Thompson et al., 2013 DNA SEQ MLH1_01963 - - -
?/? 10 c.805T>A - p.S269T 3.8 0.983 0.1211 Thompson et al., 2013 DNA SEQ MLH1_01964 - - -
?/? 10 c.805T>C - p.S269P 32.06 0.993 0.9479 Thompson et al., 2013 DNA SEQ MLH1_01965 - - -
?/? 10 c.805T>G - p.S269A 18.51 0.974 0.8283 Thompson et al., 2013 DNA SEQ MLH1_01966 - - -
?/? 10 c.806C>T - p.S269L 17.48 0.973 0.8084 Thompson et al., 2013 DNA SEQ MLH1_01967 - - -
?/? 10 c.808A>C - p.T270P 16.87 0.004 0.059 Thompson et al., 2013 DNA SEQ MLH1_01968 - - -
?/? 10 c.808A>G - p.T270A 14.92 0.004 0.0453 Thompson et al., 2013 DNA SEQ MLH1_01969 - - -
?/? 10 c.808A>T - p.T270S 1.63 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_01970 - - -
?/? 10 c.809C>A - p.T270N 11.5 0.014 0.0267 Thompson et al., 2013 DNA SEQ MLH1_01971 - - -
?/? 10 c.809C>G - p.T270S 1.63 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_01972 - - -
?/? 10 c.809C>T - p.T270I 19.97 0.234 0.1968 Thompson et al., 2013 DNA SEQ MLH1_01973 - - -
?/? 10 c.811T>A - p.S271T 4.84 0.022 0.004 Thompson et al., 2013 DNA SEQ MLH1_01974 - - -
?/? 10 c.811T>C - p.S271P 8.93 0.011 0.015 Thompson et al., 2013 DNA SEQ MLH1_01975 - - -
?/? 10 c.811T>G - p.S271A 1.79 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_01976 - - -
?/? 10 c.812C>A - p.S271Y 8.7 0.388 0.0668 Thompson et al., 2013 DNA SEQ MLH1_01977 - - -
?/? 10 c.812C>G - p.S271C 3.35 0.581 0.0183 Thompson et al., 2013 DNA SEQ MLH1_01978 - - -
?/? 10 c.812C>T - p.S271F 7.46 0.316 0.0358 Thompson et al., 2013 DNA SEQ MLH1_01979 - - -
?/? 10 c.814T>A - p.L272M 10.65 0.915 0.5169 Thompson et al., 2013 DNA SEQ MLH1_01980 - - -
?/? 10 c.814T>G - p.L272V 25.8 0.975 0.9115 Thompson et al., 2013 DNA SEQ MLH1_01981 - - -
?/? 10 c.815T>C - p.L272S 22.76 0.99 0.892 Thompson et al., 2013 DNA SEQ MLH1_01982 - - -
?/? 10 c.815T>G - p.L272W 22.06 0.999 0.8888 Thompson et al., 2013 DNA SEQ MLH1_01983 - - -
?/? 10 c.816G>C - p.L272F 12.59 0.99 0.6829 Thompson et al., 2013 DNA SEQ MLH1_01984 - - -
?/? 10 c.816G>T - p.L272F 12.59 0.99 0.6829 Thompson et al., 2013 DNA SEQ MLH1_01985 - - -
?/? 10 c.817A>G - p.R273G 23.45 0.446 0.4654 Thompson et al., 2013 DNA SEQ MLH1_01986 - - -
?/? 10 c.818G>A - p.R273K 2.85 0.006 0.0011 Thompson et al., 2013 DNA SEQ MLH1_01987 - - -
?/? 10 c.818G>C - p.R273T 22.02 0.296 0.2849 Thompson et al., 2013 DNA SEQ MLH1_01988 - - -
?/? 10 c.818G>T - p.R273I 25.92 0.637 0.7115 Thompson et al., 2013 DNA SEQ MLH1_01989 - - -
?/? 10 c.819A>C - p.R273S 19.45 0.353 0.277 Thompson et al., 2013 DNA SEQ MLH1_01990 - - -
?/? 10 c.819A>T - p.R273S 19.45 0.353 0.277 Thompson et al., 2013 DNA SEQ MLH1_01991 - - -
?/? 10 c.820A>C - p.K274Q 11.43 0.928 0.5704 Thompson et al., 2013 DNA SEQ MLH1_01992 - - -
?/? 10 c.820A>G - p.K274E 21.07 0.876 0.8101 Thompson et al., 2013 DNA SEQ MLH1_01993 - - -
?/? 10 c.821A>C - p.K274T 24.64 0.272 0.3171 Thompson et al., 2013 DNA SEQ MLH1_01994 - - -
?/? 10 c.821A>G - p.K274R 4.31 0.272 0.0088 Thompson et al., 2013 DNA SEQ MLH1_01995 - - -
?/? 10 c.821A>T - p.K274I 27.33 0.968 0.9193 Thompson et al., 2013 DNA SEQ MLH1_01996 - - -
?/? 10 c.822A>C - p.K274N 13.12 0.928 0.6449 Thompson et al., 2013 DNA SEQ MLH1_01997 - - -
?/? 10 c.822A>T - p.K274N 13.12 0.928 0.6449 Thompson et al., 2013 DNA SEQ MLH1_01998 - - -
?/? 10 c.823G>A - p.A275T 12.42 0.26 0.0852 Thompson et al., 2013 DNA SEQ MLH1_01999 - - -
?/? 10 c.823G>C - p.A275P 15.2 0.922 0.712 Thompson et al., 2013 DNA SEQ MLH1_02000 - - -
?/? 10 c.823G>T - p.A275S 6.46 0.26 0.0207 Thompson et al., 2013 DNA SEQ MLH1_02001 - - -
?/? 10 c.824C>A - p.A275D 38.94 0.951 0.9595 Thompson et al., 2013 DNA SEQ MLH1_02002 - - -
?/? 10 c.824C>G - p.A275G 6.4 0.824 0.186 Thompson et al., 2013 DNA SEQ MLH1_02003 - - -
?/? 10 c.824C>T - p.A275V 16.52 0.76 0.5996 Thompson et al., 2013 DNA SEQ MLH1_02004 - - -
?/? 10 c.826A>C - p.I276L 3.1 0.018 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02005 - - -
?/? 10 c.826A>G - p.I276V 7.07 0.024 0.0094 Thompson et al., 2013 DNA SEQ MLH1_02006 - - -
?/? 10 c.826A>T - p.I276L 3.1 0.018 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02007 - - -
?/? 10 c.827T>A - p.I276K 28.56 0.775 0.8469 Thompson et al., 2013 DNA SEQ MLH1_02008 - - -
?/? 10 c.827T>C - p.I276T 17.24 0.629 0.4857 Thompson et al., 2013 DNA SEQ MLH1_02009 - - -
?/? 10 c.827T>G - p.I276R 34.49 0.883 0.9308 Thompson et al., 2013 DNA SEQ MLH1_02010 - - -
1701 - 1800
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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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