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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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?/? 19 c.2140T>C - p.W714R 25.12 0.912 0.8811 Thompson et al., 2013 DNA SEQ MLH1_04701 - - -
?/? 19 c.2140T>G - p.W714G 12.98 0.883 0.594 Thompson et al., 2013 DNA SEQ MLH1_04702 - - -
?/? 19 c.2141G>C - p.W714S 7.46 0.157 0.0185 Thompson et al., 2013 DNA SEQ MLH1_04703 - - -
?/? 19 c.2141G>T - p.W714L 11.55 0.883 0.5289 Thompson et al., 2013 DNA SEQ MLH1_04704 - - -
?/? 19 c.2142G>C - p.W714C 11.43 0.932 0.5746 Thompson et al., 2013 DNA SEQ MLH1_04705 - - -
?/? 19 c.2142G>T - p.W714C 11.43 0.932 0.5746 Thompson et al., 2013 DNA SEQ MLH1_04706 - - -
?/? 19 c.2143A>C - p.T715P 11.21 0.267 0.0707 Thompson et al., 2013 DNA SEQ MLH1_04707 - - -
?/? 19 c.2143A>G - p.T715A 8.4 0.071 0.0168 Thompson et al., 2013 DNA SEQ MLH1_04708 - - -
?/? 19 c.2143A>T - p.T715S 2.28 0.005 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04709 - - -
?/? 19 c.2144C>A - p.T715N 5.13 0.166 0.0083 Thompson et al., 2013 DNA SEQ MLH1_04710 - - -
?/? 19 c.2144C>G - p.T715S 2.28 0.005 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04711 - - -
?/? 19 c.2144C>T - p.T715I 6.42 0.016 0.0073 Thompson et al., 2013 DNA SEQ MLH1_04712 - - -
?/? 19 c.2146G>A - p.V716M 11.82 0.671 0.3241 Thompson et al., 2013 DNA SEQ MLH1_04713 - - -
?/? 19 c.2146G>C - p.V716L 9.62 0.138 0.0301 Thompson et al., 2013 DNA SEQ MLH1_04714 - - -
?/? 19 c.2146G>T - p.V716L 9.62 0.138 0.0301 Thompson et al., 2013 DNA SEQ MLH1_04715 - - -
?/? 19 c.2147T>A - p.V716E 30.92 0.607 0.7641 Thompson et al., 2013 DNA SEQ MLH1_04716 - - -
?/? 19 c.2147T>C - p.V716A 13.14 0.294 0.109 Thompson et al., 2013 DNA SEQ MLH1_04717 - - -
?/? 19 c.2147T>G - p.V716G 8.44 0.652 0.1707 Thompson et al., 2013 DNA SEQ MLH1_04718 - - -
?/? 19 c.2149G>A - p.E717K 19.98 0.997 0.8636 Thompson et al., 2013 DNA SEQ MLH1_04719 - - -
?/? 19 c.2149G>C - p.E717Q 13.2 0.997 0.7118 Thompson et al., 2013 DNA SEQ MLH1_04720 - - -
?/? 19 c.2150A>C - p.E717A 24.45 0.997 0.9092 Thompson et al., 2013 DNA SEQ MLH1_04721 - - -
?/? 19 c.2150A>G - p.E717G 28.23 0.997 0.9328 Thompson et al., 2013 DNA SEQ MLH1_04722 - - -
?/? 19 c.2150A>T - p.E717V 31.34 0.997 0.9462 Thompson et al., 2013 DNA SEQ MLH1_04723 - - -
?/? 19 c.2151A>C - p.E717D 13.31 0.994 0.7131 Thompson et al., 2013 DNA SEQ MLH1_04724 - - -
?/? 19 c.2151A>T - p.E717D 13.31 0.994 0.7131 Thompson et al., 2013 DNA SEQ MLH1_04725 - - -
?/? 19 c.2152C>A - p.H718N 5.77 0.937 0.2262 Thompson et al., 2013 DNA SEQ MLH1_04726 - - -
?/? 19 c.2152C>G - p.H718D 11.59 0.953 0.6039 Thompson et al., 2013 DNA SEQ MLH1_04727 - - -
?/? 19 c.2152C>T - p.H718Y 5.96 0.841 0.1729 Thompson et al., 2013 DNA SEQ MLH1_04728 - - -
?/? 19 c.2153A>C - p.H718P 29.61 0.964 0.9307 Thompson et al., 2013 DNA SEQ MLH1_04729 - - -
?/? 19 c.2153A>G - p.H718R 10 0.953 0.5216 Thompson et al., 2013 DNA SEQ MLH1_04730 - - -
?/? 19 c.2153A>T - p.H718L 9.04 0.879 0.3875 Thompson et al., 2013 DNA SEQ MLH1_04731 - - -
?/? 19 c.2154C>A - p.H718Q 7.33 0.953 0.3501 Thompson et al., 2013 DNA SEQ MLH1_04732 - - -
?/? 19 c.2154C>G - p.H718Q 7.33 0.953 0.3501 Thompson et al., 2013 DNA SEQ MLH1_04733 - - -
?/? 19 c.2155A>C - p.I719L 4.03 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04734 - - -
?/? 19 c.2155A>G - p.I719V 1.37 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04735 - - -
?/? 19 c.2155A>T - p.I719F 5.6 0.045 0.0061 Thompson et al., 2013 DNA SEQ MLH1_04736 - - -
?/? 19 c.2156T>A - p.I719N 12.52 0.124 0.0505 Thompson et al., 2013 DNA SEQ MLH1_04737 - - -
?/? 19 c.2156T>C - p.I719T 7.25 0.001 0.009 Thompson et al., 2013 DNA SEQ MLH1_04738 - - -
?/? 19 c.2156T>G - p.I719S 6.35 0.012 0.007 Thompson et al., 2013 DNA SEQ MLH1_04739 - - -
?/? 19 c.2157T>G - p.I719M 7.73 0.033 0.0119 Thompson et al., 2013 DNA SEQ MLH1_04740 - - -
?/? 19 c.2158G>A - p.V720I 1.22 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04741 - - -
?/? 19 c.2158G>C - p.V720L 3.38 - 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04742 - - -
?/? 19 c.2158G>T - p.V720F 7.31 0.045 0.0111 Thompson et al., 2013 DNA SEQ MLH1_04743 - - -
?/? 19 c.2159T>A - p.V720D 38.54 0.163 0.4461 Thompson et al., 2013 DNA SEQ MLH1_04744 - - -
?/? 19 c.2159T>C - p.V720A 8.95 0.018 0.0155 Thompson et al., 2013 DNA SEQ MLH1_04745 - - -
?/? 19 c.2159T>G - p.V720G 14.59 0.124 0.07 Thompson et al., 2013 DNA SEQ MLH1_04746 - - -
?/? 19 c.2161T>A - p.Y721N 20.08 0.952 0.8409 Thompson et al., 2013 DNA SEQ MLH1_04747 - - -
?/? 19 c.2161T>C - p.Y721H 16.51 0.922 0.7489 Thompson et al., 2013 DNA SEQ MLH1_04748 - - -
?/? 19 c.2161T>G - p.Y721D 27.41 0.938 0.9098 Thompson et al., 2013 DNA SEQ MLH1_04749 - - -
?/? 19 c.2162A>C - p.Y721S 16.41 0.899 0.7273 Thompson et al., 2013 DNA SEQ MLH1_04750 - - -
?/? 19 c.2162A>G - p.Y721C 14.99 0.952 0.7313 Thompson et al., 2013 DNA SEQ MLH1_04751 - - -
?/? 19 c.2162A>T - p.Y721F 1.82 0.049 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04752 - - -
?/? 19 c.2164A>C - p.K722Q 2.76 0.309 0.0038 Thompson et al., 2013 DNA SEQ MLH1_04753 - - -
?/? 19 c.2164A>G - p.K722E 4.13 0.094 0.0038 Thompson et al., 2013 DNA SEQ MLH1_04754 - - -
?/? 19 c.2165A>C - p.K722T 3.63 0.011 0.002 Thompson et al., 2013 DNA SEQ MLH1_04755 - - -
?/? 19 c.2165A>G - p.K722R 2.68 0.023 0.001 Thompson et al., 2013 DNA SEQ MLH1_04756 - - -
?/? 19 c.2165A>T - p.K722I 9.62 0.45 0.1049 Thompson et al., 2013 DNA SEQ MLH1_04757 - - -
?/? 19 c.2166A>C - p.K722N 2.48 0.023 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04758 - - -
?/? 19 c.2166A>T - p.K722N 2.48 0.023 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04759 - - -
?/? 19 c.2167G>A - p.A723T 33.24 0.454 0.6654 Thompson et al., 2013 DNA SEQ MLH1_04760 - - -
?/? 19 c.2167G>C - p.A723P 38.15 0.979 0.9622 Thompson et al., 2013 DNA SEQ MLH1_04761 - - -
?/? 19 c.2167G>T - p.A723S 23.39 0.882 0.8472 Thompson et al., 2013 DNA SEQ MLH1_04762 - - -
?/? 19 c.2168C>A - p.A723D 43.15 0.987 0.9721 Thompson et al., 2013 DNA SEQ MLH1_04763 - - -
?/? 19 c.2168C>G - p.A723G 22.29 0.983 0.8843 Thompson et al., 2013 DNA SEQ MLH1_04764 - - -
?/? 19 c.2168C>T - p.A723V 35.49 0.953 0.9508 Thompson et al., 2013 DNA SEQ MLH1_04765 - - -
?/? 19 c.2170T>A - p.L724M 6.24 0.159 0.0125 Thompson et al., 2013 DNA SEQ MLH1_04766 - - -
?/? 19 c.2170T>G - p.L724V 10.05 0.028 0.021 Thompson et al., 2013 DNA SEQ MLH1_04767 - - -
?/? 19 c.2171T>C - p.L724S 10.84 0.121 0.0365 Thompson et al., 2013 DNA SEQ MLH1_04768 - - -
?/? 19 c.2171T>G - p.L724W 10.85 0.293 0.0731 Thompson et al., 2013 DNA SEQ MLH1_04769 - - -
?/? 19 c.2172G>C - p.L724F 3.36 - 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04770 - - -
?/? 19 c.2172G>T - p.L724F 3.36 - 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04771 - - -
?/? 19 c.2173C>A - p.R725S 20.04 0.611 0.5517 Thompson et al., 2013 DNA SEQ MLH1_04772 - - -
?/? 19 c.2173C>G - p.R725G 24.24 0.723 0.7534 Thompson et al., 2013 DNA SEQ MLH1_04773 - - -
?/? 19 c.2173C>T - p.R725C 27.39 0.911 0.8998 Thompson et al., 2013 DNA SEQ MLH1_04774 - - -
?/? 19 c.2174G>A - p.R725H 11.6 0.786 0.4285 Thompson et al., 2013 DNA SEQ MLH1_04775 - - -
?/? 19 c.2174G>C - p.R725P 32.62 0.868 0.9175 Thompson et al., 2013 DNA SEQ MLH1_04776 - - -
?/? 19 c.2174G>T - p.R725L 20.18 0.815 0.7489 Thompson et al., 2013 DNA SEQ MLH1_04777 - - -
?/? 19 c.2176T>A - p.S726T 2.62 0.001 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04778 - - -
?/? 19 c.2176T>C - p.S726P 9.17 0.112 0.0243 Thompson et al., 2013 DNA SEQ MLH1_04779 - - -
?/? 19 c.2176T>G - p.S726A 5.95 0.003 0.0058 Thompson et al., 2013 DNA SEQ MLH1_04780 - - -
?/? 19 c.2177C>T - p.S726L 9.51 0.046 0.02 Thompson et al., 2013 DNA SEQ MLH1_04781 - - -
?/? 19 c.2179C>A - p.H727N 3.16 0.01 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04782 - - -
?/? 19 c.2179C>G - p.H727D 8.47 0.01 0.0133 Thompson et al., 2013 DNA SEQ MLH1_04783 - - -
?/? 19 c.2179C>T - p.H727Y 2.74 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_04784 - - -
?/? 19 c.2180A>C - p.H727P 8.05 0.018 0.0123 Thompson et al., 2013 DNA SEQ MLH1_04785 - - -
?/? 19 c.2180A>G - p.H727R 8.23 0.03 0.0136 Thompson et al., 2013 DNA SEQ MLH1_04786 - - -
?/? 19 c.2180A>T - p.H727L 3.74 - 0.002 Thompson et al., 2013 DNA SEQ MLH1_04787 - - -
?/? 19 c.2181C>A - p.H727Q 2.64 0.018 0.001 Thompson et al., 2013 DNA SEQ MLH1_04788 - - -
?/? 19 c.2181C>G - p.H727Q 2.64 0.018 0.001 Thompson et al., 2013 DNA SEQ MLH1_04789 - - -
?/? 19 c.2182A>C - p.I728L 1.36 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04790 - - -
?/? 19 c.2182A>G - p.I728V 9.18 0.004 0.0155 Thompson et al., 2013 DNA SEQ MLH1_04791 - - -
?/? 19 c.2182A>T - p.I728F 6.09 - 0.0061 Thompson et al., 2013 DNA SEQ MLH1_04792 - - -
?/? 19 c.2183T>A - p.I728N 18.04 0.043 0.0794 Thompson et al., 2013 DNA SEQ MLH1_04793 - - -
?/? 19 c.2183T>C - p.I728T 16.79 0.01 0.0598 Thompson et al., 2013 DNA SEQ MLH1_04794 - - -
?/? 19 c.2183T>G - p.I728S 17.01 0.017 0.0633 Thompson et al., 2013 DNA SEQ MLH1_04795 - - -
?/? 19 c.2184T>G - p.I728M 8.35 0.026 0.0138 Thompson et al., 2013 DNA SEQ MLH1_04796 - - -
?/? 19 c.2185C>A - p.L729M 4.92 0.462 0.0262 Thompson et al., 2013 DNA SEQ MLH1_04797 - - -
?/? 19 c.2185C>G - p.L729V 3.83 0.007 0.0022 Thompson et al., 2013 DNA SEQ MLH1_04798 - - -
?/? 19 c.2186T>A - p.L729Q 8.8 0.56 0.1327 Thompson et al., 2013 DNA SEQ MLH1_04799 - - -
?/? 19 c.2186T>C - p.L729P 11.17 0.491 0.1638 Thompson et al., 2013 DNA SEQ MLH1_04800 - - -
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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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