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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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?/? 16 c.1865T>G - p.L622R 33.02 0.926 0.936 Thompson et al., 2013 DNA SEQ MLH1_04101 - - -
?/? 16 c.1867G>A - p.A623T 4.58 0.005 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04102 - - -
?/? 16 c.1867G>C - p.A623P 7.13 0.112 0.0139 Thompson et al., 2013 DNA SEQ MLH1_04103 - - -
?/? 16 c.1867G>T - p.A623S 2.68 0.005 0.001 Thompson et al., 2013 DNA SEQ MLH1_04104 - - -
?/? 16 c.1868C>A - p.A623E 3.45 0.005 0.0017 Thompson et al., 2013 DNA SEQ MLH1_04105 - - -
?/? 16 c.1868C>G - p.A623G 3.12 0.003 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04106 - - -
?/? 16 c.1868C>T - p.A623V 5.76 0.032 0.0061 Thompson et al., 2013 DNA SEQ MLH1_04107 - - -
?/? 16 c.1870G>A - p.D624N 14.16 0.797 0.5527 Thompson et al., 2013 DNA SEQ MLH1_04108 - - -
?/? 16 c.1870G>C - p.D624H 18.76 0.922 0.7994 Thompson et al., 2013 DNA SEQ MLH1_04109 - - -
?/? 16 c.1870G>T - p.D624Y 15.38 0.952 0.7426 Thompson et al., 2013 DNA SEQ MLH1_04110 - - -
?/? 16 c.1871A>C - p.D624A 22.07 0.867 0.8201 Thompson et al., 2013 DNA SEQ MLH1_04111 - - -
?/? 16 c.1871A>G - p.D624G 18.62 0.867 0.7561 Thompson et al., 2013 DNA SEQ MLH1_04112 - - -
?/? 16 c.1871A>T - p.D624V 23.16 0.899 0.8536 Thompson et al., 2013 DNA SEQ MLH1_04113 - - -
?/? 16 c.1872C>A - p.D624E 5.03 0.084 0.0056 Thompson et al., 2013 DNA SEQ MLH1_04114 - - -
?/? 16 c.1872C>G - p.D624E 5.03 0.084 0.0056 Thompson et al., 2013 DNA SEQ MLH1_04115 - - -
?/? 16 c.1873T>A - p.Y625N 17.86 0.998 0.8313 Thompson et al., 2013 DNA SEQ MLH1_04116 - - -
?/? 16 c.1873T>C - p.Y625H 16.52 0.998 0.805 Thompson et al., 2013 DNA SEQ MLH1_04117 - - -
?/? 16 c.1873T>G - p.Y625D 35.81 0.998 0.9598 Thompson et al., 2013 DNA SEQ MLH1_04118 - - -
?/? 16 c.1874A>C - p.Y625S 18.59 0.998 0.8437 Thompson et al., 2013 DNA SEQ MLH1_04119 - - -
?/? 16 c.1874A>G - p.Y625C 23.02 0.999 0.898 Thompson et al., 2013 DNA SEQ MLH1_04120 - - -
?/? 16 c.1874A>T - p.Y625F 22.82 0.997 0.8954 Thompson et al., 2013 DNA SEQ MLH1_04121 - - -
?/? 16 c.1876T>A - p.F626I 8.77 0.951 0.4453 Thompson et al., 2013 DNA SEQ MLH1_04122 - - -
?/? 16 c.1876T>C - p.F626L 11.3 0.82 0.4495 Thompson et al., 2013 DNA SEQ MLH1_04123 - - -
?/? 16 c.1876T>G - p.F626V 15.96 0.873 0.6915 Thompson et al., 2013 DNA SEQ MLH1_04124 - - -
?/? 16 c.1877T>A - p.F626Y 7.03 0.079 0.0117 Thompson et al., 2013 DNA SEQ MLH1_04125 - - -
?/? 16 c.1877T>C - p.F626S 16.45 0.873 0.7059 Thompson et al., 2013 DNA SEQ MLH1_04126 - - -
?/? 16 c.1877T>G - p.F626C 16.27 0.986 0.7912 Thompson et al., 2013 DNA SEQ MLH1_04127 - - -
?/? 16 c.1878C>A - p.F626L 11.3 0.82 0.4495 Thompson et al., 2013 DNA SEQ MLH1_04128 - - -
?/? 16 c.1878C>G - p.F626L 11.3 0.82 0.4495 Thompson et al., 2013 DNA SEQ MLH1_04129 - - -
?/? 16 c.1879T>A - p.S627T 3.8 0.939 0.1025 Thompson et al., 2013 DNA SEQ MLH1_04130 - - -
?/? 16 c.1879T>C - p.S627P 32.06 0.975 0.944 Thompson et al., 2013 DNA SEQ MLH1_04131 - - -
?/? 16 c.1879T>G - p.S627A 18.51 0.777 0.6758 Thompson et al., 2013 DNA SEQ MLH1_04132 - - -
?/? 16 c.1880C>A - p.S627Y 12.4 0.981 0.6669 Thompson et al., 2013 DNA SEQ MLH1_04133 - - -
?/? 16 c.1880C>G - p.S627C 3.26 0.292 0.0051 Thompson et al., 2013 DNA SEQ MLH1_04134 - - -
?/? 16 c.1880C>T - p.S627F 15.46 0.981 0.7676 Thompson et al., 2013 DNA SEQ MLH1_04135 - - -
?/? 16 c.1882T>A - p.L628M 10.05 0.016 0.02 Thompson et al., 2013 DNA SEQ MLH1_04136 - - -
?/? 16 c.1882T>G - p.L628V 11.87 0.004 0.0275 Thompson et al., 2013 DNA SEQ MLH1_04137 - - -
?/? 16 c.1883T>C - p.L628S 22.75 0.282 0.2878 Thompson et al., 2013 DNA SEQ MLH1_04138 - - -
?/? 16 c.1883T>G - p.L628W 18.53 0.416 0.3098 Thompson et al., 2013 DNA SEQ MLH1_04139 - - -
?/? 16 c.1884G>C - p.L628F 8.39 0.351 0.0533 Thompson et al., 2013 DNA SEQ MLH1_04140 - - -
?/? 16 c.1884G>T - p.L628F 8.39 0.351 0.0533 Thompson et al., 2013 DNA SEQ MLH1_04141 - - -
?/? 16 c.1885G>A - p.E629K 5.59 0.228 0.0131 Thompson et al., 2013 DNA SEQ MLH1_04142 - - -
?/? 16 c.1885G>C - p.E629Q 2.8 0.037 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04143 - - -
?/? 16 c.1886A>C - p.E629A 6.87 0.143 0.0145 Thompson et al., 2013 DNA SEQ MLH1_04144 - - -
?/? 16 c.1886A>G - p.E629G 9.89 0.419 0.0986 Thompson et al., 2013 DNA SEQ MLH1_04145 - - -
?/? 16 c.1886A>T - p.E629V 4.12 0.008 0.0026 Thompson et al., 2013 DNA SEQ MLH1_04146 - - -
?/? 16 c.1887A>C - p.E629D 3.35 0.037 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04147 - - -
?/? 16 c.1887A>T - p.E629D 3.35 0.037 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04148 - - -
?/? 16 c.1888A>C - p.I630L 10.44 0.691 0.2826 Thompson et al., 2013 DNA SEQ MLH1_04149 - - -
?/? 16 c.1888A>G - p.I630V 10.65 0.155 0.0403 Thompson et al., 2013 DNA SEQ MLH1_04150 - - -
?/? 16 c.1888A>T - p.I630F 10.65 0.936 0.5392 Thompson et al., 2013 DNA SEQ MLH1_04151 - - -
?/? 16 c.1889T>A - p.I630N 17.95 0.982 0.8232 Thompson et al., 2013 DNA SEQ MLH1_04152 - - -
?/? 16 c.1889T>C - p.I630T 19.6 0.909 0.8064 Thompson et al., 2013 DNA SEQ MLH1_04153 - - -
?/? 16 c.1889T>G - p.I630S 20.83 0.936 0.8429 Thompson et al., 2013 DNA SEQ MLH1_04154 - - -
?/? 16 c.1890T>G - p.I630M 15.7 0.929 0.7327 Thompson et al., 2013 DNA SEQ MLH1_04155 - - -
?/? 16 c.1891G>A - p.D631N 3.57 0.909 0.0803 Thompson et al., 2013 DNA SEQ MLH1_04156 - - -
?/? 16 c.1891G>C - p.D631H 10.1 0.968 0.5432 Thompson et al., 2013 DNA SEQ MLH1_04157 - - -
?/? 16 c.1891G>T - p.D631Y 18.66 0.968 0.8273 Thompson et al., 2013 DNA SEQ MLH1_04158 - - -
?/? 16 c.1892A>C - p.D631A 19.77 0.846 0.7646 Thompson et al., 2013 DNA SEQ MLH1_04159 - - -
?/? 16 c.1892A>G - p.D631G 15.36 0.909 0.7055 Thompson et al., 2013 DNA SEQ MLH1_04160 - - -
?/? 16 c.1892A>T - p.D631V 12.77 0.932 0.6347 Thompson et al., 2013 DNA SEQ MLH1_04161 - - -
?/? 16 c.1893T>A - p.D631E 25.3 0.457 0.5202 Thompson et al., 2013 DNA SEQ MLH1_04162 - - -
?/? 16 c.1893T>G - p.D631E 25.3 0.457 0.5202 Thompson et al., 2013 DNA SEQ MLH1_04163 - - -
?/? 16 c.1894G>A - p.E632K 2.8 0.002 0.0011 Thompson et al., 2013 DNA SEQ MLH1_04164 - - -
?/? 16 c.1894G>C - p.E632Q 1.63 0.011 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04165 - - -
?/? 16 c.1895A>C - p.E632A 4.18 0.011 0.0027 Thompson et al., 2013 DNA SEQ MLH1_04166 - - -
?/? 16 c.1895A>G - p.E632G 3.01 0.003 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04167 - - -
?/? 16 c.1895A>T - p.E632V 19.95 0.112 0.1269 Thompson et al., 2013 DNA SEQ MLH1_04168 - - -
?/? 16 c.1896G>C - p.E632D 7.46 0.005 0.0098 Thompson et al., 2013 DNA SEQ MLH1_04169 - - -
?/? 16 c.1896G>T - p.E632D 7.46 0.005 0.0098 Thompson et al., 2013 DNA SEQ MLH1_04170 - - -
?/? 17 c.1897G>A - p.E633K 18.36 0.034 0.0795 Thompson et al., 2013 DNA SEQ MLH1_04171 - - -
?/? 17 c.1897G>C - p.E633Q 13.88 0.6 0.3379 Thompson et al., 2013 DNA SEQ MLH1_04172 - - -
?/? 17 c.1898A>C - p.E633A 22.94 0.48 0.4891 Thompson et al., 2013 DNA SEQ MLH1_04173 - - -
?/? 17 c.1898A>G - p.E633G 18.25 0.576 0.4616 Thompson et al., 2013 DNA SEQ MLH1_04174 - - -
?/? 17 c.1898A>T - p.E633V 25.96 0.6 0.6788 Thompson et al., 2013 DNA SEQ MLH1_04175 - - -
?/? 17 c.1899A>C - p.E633D 2.77 0.034 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04176 - - -
?/? 17 c.1899A>T - p.E633D 2.77 0.034 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04177 - - -
?/? 17 c.1900G>A - p.G634R 36.52 0.75 0.8968 Thompson et al., 2013 DNA SEQ MLH1_04178 - - -
?/? 17 c.1900G>C - p.G634R 36.52 0.75 0.8968 Thompson et al., 2013 DNA SEQ MLH1_04179 - - -
?/? 17 c.1900G>T - p.G634W 22.39 0.998 0.8917 Thompson et al., 2013 DNA SEQ MLH1_04180 - - -
?/? 17 c.1901G>A - p.G634E 35.36 0.984 0.9563 Thompson et al., 2013 DNA SEQ MLH1_04181 - - -
?/? 17 c.1901G>C - p.G634A 22.05 0.983 0.8818 Thompson et al., 2013 DNA SEQ MLH1_04182 - - -
?/? 17 c.1901G>T - p.G634V 29.36 0.99 0.9364 Thompson et al., 2013 DNA SEQ MLH1_04183 - - -
?/? 17 c.1903A>C - p.N635H 11.19 0.063 0.0308 Thompson et al., 2013 DNA SEQ MLH1_04184 - - -
?/? 17 c.1903A>G - p.N635D 24.34 0.303 0.34 Thompson et al., 2013 DNA SEQ MLH1_04185 - - -
?/? 17 c.1903A>T - p.N635Y 5.68 0.522 0.0459 Thompson et al., 2013 DNA SEQ MLH1_04186 - - -
?/? 17 c.1904A>C - p.N635T 4.57 0.303 0.0114 Thompson et al., 2013 DNA SEQ MLH1_04187 - - -
?/? 17 c.1904A>G - p.N635S 3.66 0.032 0.0022 Thompson et al., 2013 DNA SEQ MLH1_04188 - - -
?/? 17 c.1904A>T - p.N635I 5.27 0.443 0.0282 Thompson et al., 2013 DNA SEQ MLH1_04189 - - -
?/? 17 c.1905C>A - p.N635K 23.12 0.303 0.3144 Thompson et al., 2013 DNA SEQ MLH1_04190 - - -
?/? 17 c.1905C>G - p.N635K 23.12 0.303 0.3144 Thompson et al., 2013 DNA SEQ MLH1_04191 - - -
?/? 17 c.1906C>A - p.L636M 9.93 0.642 0.222 Thompson et al., 2013 DNA SEQ MLH1_04192 - - -
?/? 17 c.1906C>G - p.L636V 9.32 0.024 0.0175 Thompson et al., 2013 DNA SEQ MLH1_04193 - - -
?/? 17 c.1907T>A - p.L636Q 17.55 0.882 0.7429 Thompson et al., 2013 DNA SEQ MLH1_04194 - - -
?/? 17 c.1907T>C - p.L636P 25.44 0.818 0.8363 Thompson et al., 2013 DNA SEQ MLH1_04195 - - -
?/? 17 c.1907T>G - p.L636R 35.21 0.882 0.9335 Thompson et al., 2013 DNA SEQ MLH1_04196 - - -
?/? 17 c.1909A>C - p.I637L 4.01 - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04197 - - -
?/? 17 c.1909A>G - p.I637V 1.95 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04198 - - -
?/? 17 c.1909A>T - p.I637F 3.89 0.018 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04199 - - -
?/? 17 c.1910T>A - p.I637N 9.47 0.01 0.0171 Thompson et al., 2013 DNA SEQ MLH1_04200 - - -
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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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