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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.1822G>A - p.A608T 16.44 0.782 0.6193 Thompson et al., 2013 DNA SEQ MLH1_04001 - - -
?/? 16 c.1822G>C - p.A608P 16.95 0.879 0.725 Thompson et al., 2013 DNA SEQ MLH1_04002 - - -
?/? 16 c.1822G>T - p.A608S 9.26 0.179 0.0328 Thompson et al., 2013 DNA SEQ MLH1_04003 - - -
?/? 16 c.1823C>A - p.A608D 40.27 0.879 0.9495 Thompson et al., 2013 DNA SEQ MLH1_04004 - - -
?/? 16 c.1823C>G - p.A608G 8.02 0.11 0.0179 Thompson et al., 2013 DNA SEQ MLH1_04005 - - -
?/? 16 c.1823C>T - p.A608V 20.83 0.179 0.1758 Thompson et al., 2013 DNA SEQ MLH1_04006 - - -
?/? 16 c.1825G>A - p.E609K 3.99 0.005 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04007 - - -
?/? 16 c.1825G>C - p.E609Q 2.09 0.005 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04008 - - -
?/? 16 c.1826A>C - p.E609A 21.79 0.016 0.1056 Thompson et al., 2013 DNA SEQ MLH1_04009 - - -
?/? 16 c.1826A>G - p.E609G 13.77 0.112 0.059 Thompson et al., 2013 DNA SEQ MLH1_04010 - - -
?/? 16 c.1826A>T - p.E609V 33.84 0.071 0.2884 Thompson et al., 2013 DNA SEQ MLH1_04011 - - -
?/? 16 c.1827A>C - p.E609D 8.98 0.112 0.0232 Thompson et al., 2013 DNA SEQ MLH1_04012 - - -
?/? 16 c.1827A>T - p.E609D 8.98 0.112 0.0232 Thompson et al., 2013 DNA SEQ MLH1_04013 - - -
?/? 16 c.1828T>A - p.Y610N 8.62 0.192 0.0295 Thompson et al., 2013 DNA SEQ MLH1_04014 - - -
?/? 16 c.1828T>C - p.Y610H 5.3 0.104 0.0069 Thompson et al., 2013 DNA SEQ MLH1_04015 - - -
?/? 16 c.1828T>G - p.Y610D 19 0.74 0.6539 Thompson et al., 2013 DNA SEQ MLH1_04016 - - -
?/? 16 c.1829A>C - p.Y610S 8.13 0.062 0.0151 Thompson et al., 2013 DNA SEQ MLH1_04017 - - -
?/? 16 c.1829A>G - p.Y610C 10.56 0.895 0.4908 Thompson et al., 2013 DNA SEQ MLH1_04018 - - -
?/? 16 c.1829A>T - p.Y610F 11.67 0.825 0.473 Thompson et al., 2013 DNA SEQ MLH1_04019 - - -
?/? 16 c.1831A>C - p.I611L 3.07 0.373 0.0063 Thompson et al., 2013 DNA SEQ MLH1_04020 - - -
?/? 16 c.1831A>G - p.I611V 3.68 0.009 0.002 Thompson et al., 2013 DNA SEQ MLH1_04021 - - -
?/? 16 c.1831A>T - p.I611F 4.97 0.796 0.1025 Thompson et al., 2013 DNA SEQ MLH1_04022 - - -
?/? 16 c.1832T>A - p.I611N 14.53 0.916 0.6851 Thompson et al., 2013 DNA SEQ MLH1_04023 - - -
?/? 16 c.1832T>C - p.I611T 9.63 0.512 0.1327 Thompson et al., 2013 DNA SEQ MLH1_04024 - - -
?/? 16 c.1832T>G - p.I611S 8.92 0.608 0.1621 Thompson et al., 2013 DNA SEQ MLH1_04025 - - -
?/? 16 c.1833T>G - p.I611M 7.78 0.725 0.1893 Thompson et al., 2013 DNA SEQ MLH1_04026 - - -
?/? 16 c.1834G>A - p.V612I 2.49 0.813 0.0249 Thompson et al., 2013 DNA SEQ MLH1_04027 - - -
?/? 16 c.1834G>C - p.V612L 4.56 0.636 0.0454 Thompson et al., 2013 DNA SEQ MLH1_04028 - - -
?/? 16 c.1834G>T - p.V612F 4.19 0.916 0.1145 Thompson et al., 2013 DNA SEQ MLH1_04029 - - -
?/? 16 c.1835T>A - p.V612D 5.82 0.866 0.1805 Thompson et al., 2013 DNA SEQ MLH1_04030 - - -
?/? 16 c.1835T>C - p.V612A 6.67 0.186 0.0163 Thompson et al., 2013 DNA SEQ MLH1_04031 - - -
?/? 16 c.1835T>G - p.V612G 6.57 0.608 0.0881 Thompson et al., 2013 DNA SEQ MLH1_04032 - - -
?/? 16 c.1837G>A - p.E613K 4.06 0.121 0.0041 Thompson et al., 2013 DNA SEQ MLH1_04033 - - -
?/? 16 c.1837G>C - p.E613Q 2.46 0.017 0.0008 Thompson et al., 2013 DNA SEQ MLH1_04034 - - -
?/? 16 c.1838A>C - p.E613A 4.57 0.186 0.007 Thompson et al., 2013 DNA SEQ MLH1_04035 - - -
?/? 16 c.1838A>G - p.E613G 4.85 0.121 0.0061 Thompson et al., 2013 DNA SEQ MLH1_04036 - - -
?/? 16 c.1838A>T - p.E613V 5.98 0.202 0.0137 Thompson et al., 2013 DNA SEQ MLH1_04037 - - -
?/? 16 c.1839G>C - p.E613D 1.88 0.003 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04038 - - -
?/? 16 c.1839G>T - p.E613D 1.88 0.003 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04039 - - -
?/? 16 c.1840T>A - p.F614I 10.86 0.287 0.0715 Thompson et al., 2013 DNA SEQ MLH1_04040 - - -
?/? 16 c.1840T>C - p.F614L 12.82 0.02 0.0348 Thompson et al., 2013 DNA SEQ MLH1_04041 - - -
?/? 16 c.1840T>G - p.F614V 17.61 0.513 0.3768 Thompson et al., 2013 DNA SEQ MLH1_04042 - - -
?/? 16 c.1841T>A - p.F614Y 16.28 0.889 0.7151 Thompson et al., 2013 DNA SEQ MLH1_04043 - - -
?/? 16 c.1841T>C - p.F614S 19.43 0.889 0.7895 Thompson et al., 2013 DNA SEQ MLH1_04044 - - -
?/? 16 c.1841T>G - p.F614C 17.91 0.837 0.7141 Thompson et al., 2013 DNA SEQ MLH1_04045 - - -
?/? 16 c.1842T>A - p.F614L 12.82 0.02 0.0348 Thompson et al., 2013 DNA SEQ MLH1_04046 - - -
?/? 16 c.1842T>G - p.F614L 12.82 0.02 0.0348 Thompson et al., 2013 DNA SEQ MLH1_04047 - - -
?/? 16 c.1843C>A - p.L615M 10.65 0.951 0.555 Thompson et al., 2013 DNA SEQ MLH1_04048 - - -
?/? 16 c.1843C>G - p.L615V 25.8 0.915 0.8886 Thompson et al., 2013 DNA SEQ MLH1_04049 - - -
?/? 16 c.1844T>A - p.L615Q 15.01 0.982 0.7562 Thompson et al., 2013 DNA SEQ MLH1_04050 - - -
?/? 16 c.1844T>C - p.L615P 36.32 0.982 0.9584 Thompson et al., 2013 DNA SEQ MLH1_04051 - - -
?/? 16 c.1844T>G - p.L615R 33.02 0.982 0.9489 Thompson et al., 2013 DNA SEQ MLH1_04052 - - -
?/? 16 c.1846A>C - p.K616Q 2.06 0.013 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04053 - - -
?/? 16 c.1846A>G - p.K616E 5.88 0.094 0.0083 Thompson et al., 2013 DNA SEQ MLH1_04054 - - -
?/? 16 c.1847A>C - p.K616T 5.07 0.11 0.0064 Thompson et al., 2013 DNA SEQ MLH1_04055 - - -
?/? 16 c.1847A>G - p.K616R 2.08 0.233 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04056 - - -
?/? 16 c.1847A>T - p.K616M 3.25 0.04 0.0017 Thompson et al., 2013 DNA SEQ MLH1_04057 - - -
?/? 16 c.1848G>C - p.K616N 3.14 0.212 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04058 - - -
?/? 16 c.1848G>T - p.K616N 3.14 0.212 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04059 - - -
?/? 16 c.1849A>C - p.K617Q 1.58 0.003 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04060 - - -
?/? 16 c.1849A>G - p.K617E 3.96 0.006 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04061 - - -
?/? 16 c.1850A>C - p.K617T 12.02 0.032 0.0317 Thompson et al., 2013 DNA SEQ MLH1_04062 - - -
?/? 16 c.1850A>G - p.K617R 4.21 0.003 0.0027 Thompson et al., 2013 DNA SEQ MLH1_04063 - - -
?/? 16 c.1850A>T - p.K617M 7.9 0.019 0.0118 Thompson et al., 2013 DNA SEQ MLH1_04064 - - -
?/? 16 c.1851G>C - p.K617N 6.57 0.079 0.01 Thompson et al., 2013 DNA SEQ MLH1_04065 - - -
?/? 16 c.1851G>T - p.K617N 6.57 0.079 0.01 Thompson et al., 2013 DNA SEQ MLH1_04066 - - -
?/? 16 c.1852A>C - p.K618Q 11.6 0.997 0.6482 Thompson et al., 2013 DNA SEQ MLH1_04067 - - -
?/? 16 c.1852A>G - p.K618E 21.29 0.997 0.8797 Thompson et al., 2013 DNA SEQ MLH1_04068 - - -
?/? 16 c.1853A>C - p.K618T 24.98 0.997 0.9131 Thompson et al., 2013 DNA SEQ MLH1_04069 - - -
?/? 16 c.1853A>G - p.K618R 4.57 0.997 0.1819 Thompson et al., 2013 DNA SEQ MLH1_04070 - - -
?/? 16 c.1853A>T - p.K618M 14.76 0.998 0.7617 Thompson et al., 2013 DNA SEQ MLH1_04071 - - -
?/? 16 c.1854G>C - p.K618N 13.23 0.997 0.7129 Thompson et al., 2013 DNA SEQ MLH1_04072 - - -
?/? 16 c.1854G>T - p.K618N 13.23 0.997 0.7129 Thompson et al., 2013 DNA SEQ MLH1_04073 - - -
?/? 16 c.1855G>A - p.A619T 7.95 0.019 0.012 Thompson et al., 2013 DNA SEQ MLH1_04074 - - -
?/? 16 c.1855G>C - p.A619P 11.98 0.607 0.2734 Thompson et al., 2013 DNA SEQ MLH1_04075 - - -
?/? 16 c.1855G>T - p.A619S 6.19 0.044 0.0076 Thompson et al., 2013 DNA SEQ MLH1_04076 - - -
?/? 16 c.1856C>A - p.A619D 45.2 0.607 0.8846 Thompson et al., 2013 DNA SEQ MLH1_04077 - - -
?/? 16 c.1856C>G - p.A619G 6.6 0.044 0.0088 Thompson et al., 2013 DNA SEQ MLH1_04078 - - -
?/? 16 c.1856C>T - p.A619V 7.32 0.311 0.0337 Thompson et al., 2013 DNA SEQ MLH1_04079 - - -
?/? 16 c.1858G>A - p.E620K 6.06 0.016 0.0064 Thompson et al., 2013 DNA SEQ MLH1_04080 - - -
?/? 16 c.1858G>C - p.E620Q 4.18 0.282 0.0086 Thompson et al., 2013 DNA SEQ MLH1_04081 - - -
?/? 16 c.1859A>C - p.E620A 11.77 0.177 0.0547 Thompson et al., 2013 DNA SEQ MLH1_04082 - - -
?/? 16 c.1859A>G - p.E620G 9.14 0.177 0.0316 Thompson et al., 2013 DNA SEQ MLH1_04083 - - -
?/? 16 c.1859A>T - p.E620V 16.13 0.282 0.1562 Thompson et al., 2013 DNA SEQ MLH1_04084 - - -
?/? 16 c.1860G>C - p.E620D 2.13 0.009 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04085 - - -
?/? 16 c.1860G>T - p.E620D 2.13 0.009 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04086 - - -
?/? 16 c.1861A>C - p.M621L 13.49 0.04 0.0422 Thompson et al., 2013 DNA SEQ MLH1_04087 - - -
?/? 16 c.1861A>G - p.M621V 30.01 0.271 0.4197 Thompson et al., 2013 DNA SEQ MLH1_04088 - - -
?/? 16 c.1861A>T - p.M621L 13.49 0.04 0.0422 Thompson et al., 2013 DNA SEQ MLH1_04089 - - -
?/? 16 c.1862T>A - p.M621K 27.72 0.747 0.8211 Thompson et al., 2013 DNA SEQ MLH1_04090 - - -
?/? 16 c.1862T>C - p.M621T 25.97 0.747 0.7983 Thompson et al., 2013 DNA SEQ MLH1_04091 - - -
?/? 16 c.1862T>G - p.M621R 32.16 0.802 0.8904 Thompson et al., 2013 DNA SEQ MLH1_04092 - - -
?/? 16 c.1863G>A - p.M621I 21.99 0.201 0.2095 Thompson et al., 2013 DNA SEQ MLH1_04093 - - -
?/? 16 c.1863G>C - p.M621I 21.99 0.201 0.2095 Thompson et al., 2013 DNA SEQ MLH1_04094 - - -
?/? 16 c.1863G>T - p.M621I 21.99 0.201 0.2095 Thompson et al., 2013 DNA SEQ MLH1_04095 - - -
?/? 16 c.1864C>A - p.L622I 15.46 0.692 0.4909 Thompson et al., 2013 DNA SEQ MLH1_04096 - - -
?/? 16 c.1864C>G - p.L622V 25.8 0.478 0.5535 Thompson et al., 2013 DNA SEQ MLH1_04097 - - -
?/? 16 c.1864C>T - p.L622F 12.59 0.773 0.4607 Thompson et al., 2013 DNA SEQ MLH1_04098 - - -
?/? 16 c.1865T>A - p.L622H 20.32 0.926 0.8294 Thompson et al., 2013 DNA SEQ MLH1_04099 - - -
?/? 16 c.1865T>C - p.L622P 36.32 0.882 0.9377 Thompson et al., 2013 DNA SEQ MLH1_04100 - - -
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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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