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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.1776T>G - p.S592R 9.94 0.383 0.0867 Thompson et al., 2013 DNA SEQ MLH1_03901 - - -
?/? 16 c.1777C>A - p.P593T 4.29 0.002 0.0028 Thompson et al., 2013 DNA SEQ MLH1_03902 - - -
?/? 16 c.1777C>G - p.P593A 3.57 0.011 0.0019 Thompson et al., 2013 DNA SEQ MLH1_03903 - - -
?/? 16 c.1777C>T - p.P593S 3.69 0.019 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03904 - - -
?/? 16 c.1778C>A - p.P593Q 2.72 0.112 0.0016 Thompson et al., 2013 DNA SEQ MLH1_03905 - - -
?/? 16 c.1778C>G - p.P593R 4.37 0.112 0.0046 Thompson et al., 2013 DNA SEQ MLH1_03906 - - -
?/? 16 c.1778C>T - p.P593L 5.16 0.079 0.0058 Thompson et al., 2013 DNA SEQ MLH1_03907 - - -
?/? 16 c.1780G>A - p.E594K 18.19 0.377 0.2672 Thompson et al., 2013 DNA SEQ MLH1_03908 - - -
?/? 16 c.1780G>C - p.E594Q 13.72 0.136 0.0644 Thompson et al., 2013 DNA SEQ MLH1_03909 - - -
?/? 16 c.1781A>C - p.E594A 23.17 0.136 0.1845 Thompson et al., 2013 DNA SEQ MLH1_03910 - - -
?/? 16 c.1781A>G - p.E594G 19.65 0.044 0.0951 Thompson et al., 2013 DNA SEQ MLH1_03911 - - -
?/? 16 c.1781A>T - p.E594V 23.94 0.526 0.562 Thompson et al., 2013 DNA SEQ MLH1_03912 - - -
?/? 16 c.1782G>C - p.E594D 5.09 0.025 0.0045 Thompson et al., 2013 DNA SEQ MLH1_03913 - - -
?/? 16 c.1782G>T - p.E594D 5.09 0.025 0.0045 Thompson et al., 2013 DNA SEQ MLH1_03914 - - -
?/? 16 c.1783A>C - p.S595R 36.37 0.946 0.952 Thompson et al., 2013 DNA SEQ MLH1_03915 - - -
?/? 16 c.1783A>G - p.S595G 9.08 0.628 0.1799 Thompson et al., 2013 DNA SEQ MLH1_03916 - - -
?/? 16 c.1783A>T - p.S595C 20.41 0.958 0.8491 Thompson et al., 2013 DNA SEQ MLH1_03917 - - -
?/? 16 c.1784G>A - p.S595N 14.09 0.392 0.1787 Thompson et al., 2013 DNA SEQ MLH1_03918 - - -
?/? 16 c.1784G>C - p.S595T 13.44 0.805 0.5318 Thompson et al., 2013 DNA SEQ MLH1_03919 - - -
?/? 16 c.1784G>T - p.S595I 29.33 0.946 0.9241 Thompson et al., 2013 DNA SEQ MLH1_03920 - - -
?/? 16 c.1785T>A - p.S595R 36.37 0.946 0.952 Thompson et al., 2013 DNA SEQ MLH1_03921 - - -
?/? 16 c.1785T>G - p.S595R 36.37 0.946 0.952 Thompson et al., 2013 DNA SEQ MLH1_03922 - - -
?/? 16 c.1786G>A - p.G596S 7.5 0.965 0.374 Thompson et al., 2013 DNA SEQ MLH1_03923 - - -
?/? 16 c.1786G>C - p.G596R 36.52 0.984 0.9593 Thompson et al., 2013 DNA SEQ MLH1_03924 - - -
?/? 16 c.1786G>T - p.G596C 19.13 0.997 0.8515 Thompson et al., 2013 DNA SEQ MLH1_03925 - - -
?/? 16 c.1787G>A - p.G596D 35.86 0.965 0.9542 Thompson et al., 2013 DNA SEQ MLH1_03926 - - -
?/? 16 c.1787G>C - p.G596A 22.05 0.983 0.8818 Thompson et al., 2013 DNA SEQ MLH1_03927 - - -
?/? 16 c.1787G>T - p.G596V 29.36 0.99 0.9364 Thompson et al., 2013 DNA SEQ MLH1_03928 - - -
?/? 16 c.1789T>A - p.W597R 37.82 0.998 0.9644 Thompson et al., 2013 DNA SEQ MLH1_03929 - - -
?/? 16 c.1789T>C - p.W597R 37.82 0.998 0.9644 Thompson et al., 2013 DNA SEQ MLH1_03930 - - -
?/? 16 c.1789T>G - p.W597G 23.29 0.997 0.8996 Thompson et al., 2013 DNA SEQ MLH1_03931 - - -
?/? 16 c.1790G>C - p.W597S 16.73 0.998 0.8095 Thompson et al., 2013 DNA SEQ MLH1_03932 - - -
?/? 16 c.1790G>T - p.W597L 33.15 0.997 0.9523 Thompson et al., 2013 DNA SEQ MLH1_03933 - - -
?/? 16 c.1791G>C - p.W597C 29.05 0.999 0.9372 Thompson et al., 2013 DNA SEQ MLH1_03934 - - -
?/? 16 c.1791G>T - p.W597C 29.05 0.999 0.9372 Thompson et al., 2013 DNA SEQ MLH1_03935 - - -
?/? 16 c.1792A>C - p.T598P 32.54 0.768 0.8783 Thompson et al., 2013 DNA SEQ MLH1_03936 - - -
?/? 16 c.1792A>G - p.T598A 26.74 0.335 0.4223 Thompson et al., 2013 DNA SEQ MLH1_03937 - - -
?/? 16 c.1792A>T - p.T598S 3.67 0.053 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03938 - - -
?/? 16 c.1793C>A - p.T598K 27.94 0.09 0.2214 Thompson et al., 2013 DNA SEQ MLH1_03939 - - -
?/? 16 c.1793C>G - p.T598R 33.56 0.168 0.3754 Thompson et al., 2013 DNA SEQ MLH1_03940 - - -
?/? 16 c.1793C>T - p.T598I 34.37 0.903 0.9356 Thompson et al., 2013 DNA SEQ MLH1_03941 - - -
?/? 16 c.1795G>A - p.E599K 4.74 0.713 0.0672 Thompson et al., 2013 DNA SEQ MLH1_03942 - - -
?/? 16 c.1795G>C - p.E599Q 3.05 0.392 0.0067 Thompson et al., 2013 DNA SEQ MLH1_03943 - - -
?/? 16 c.1796A>C - p.E599A 9.34 0.875 0.4012 Thompson et al., 2013 DNA SEQ MLH1_03944 - - -
?/? 16 c.1796A>G - p.E599G 8.51 0.883 0.3594 Thompson et al., 2013 DNA SEQ MLH1_03945 - - -
?/? 16 c.1796A>T - p.E599V 13.02 0.912 0.6251 Thompson et al., 2013 DNA SEQ MLH1_03946 - - -
?/? 16 c.1797G>C - p.E599D 2.37 0.875 0.0289 Thompson et al., 2013 DNA SEQ MLH1_03947 - - -
?/? 16 c.1797G>T - p.E599D 2.37 0.875 0.0289 Thompson et al., 2013 DNA SEQ MLH1_03948 - - -
?/? 16 c.1798G>A - p.E600K 4.26 0.256 0.008 Thompson et al., 2013 DNA SEQ MLH1_03949 - - -
?/? 16 c.1798G>C - p.E600Q 2.51 0.387 0.0042 Thompson et al., 2013 DNA SEQ MLH1_03950 - - -
?/? 16 c.1799A>C - p.E600A 3.35 0.029 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03951 - - -
?/? 16 c.1799A>G - p.E600G 4.19 0.256 0.0077 Thompson et al., 2013 DNA SEQ MLH1_03952 - - -
?/? 16 c.1799A>T - p.E600V 18.68 0.387 0.2878 Thompson et al., 2013 DNA SEQ MLH1_03953 - - -
?/? 16 c.1800A>C - p.E600D 5.88 0.025 0.0062 Thompson et al., 2013 DNA SEQ MLH1_03954 - - -
?/? 16 c.1800A>T - p.E600D 5.88 0.025 0.0062 Thompson et al., 2013 DNA SEQ MLH1_03955 - - -
?/? 16 c.1801G>A - p.D601N 13.97 0.979 0.7224 Thompson et al., 2013 DNA SEQ MLH1_03956 - - -
?/? 16 c.1801G>C - p.D601H 20.32 0.99 0.8646 Thompson et al., 2013 DNA SEQ MLH1_03957 - - -
?/? 16 c.1801G>T - p.D601Y 21.06 0.99 0.8738 Thompson et al., 2013 DNA SEQ MLH1_03958 - - -
?/? 16 c.1802A>C - p.D601A 29.51 0.987 0.9363 Thompson et al., 2013 DNA SEQ MLH1_03959 - - -
?/? 16 c.1802A>G - p.D601G 20.85 0.979 0.8659 Thompson et al., 2013 DNA SEQ MLH1_03960 - - -
?/? 16 c.1802A>T - p.D601V 22.25 0.99 0.8869 Thompson et al., 2013 DNA SEQ MLH1_03961 - - -
?/? 16 c.1803T>A - p.D601E 23.98 0.629 0.6664 Thompson et al., 2013 DNA SEQ MLH1_03962 - - -
?/? 16 c.1803T>G - p.D601E 23.98 0.629 0.6664 Thompson et al., 2013 DNA SEQ MLH1_03963 - - -
?/? 16 c.1804G>A - p.G602S 7.5 0.999 0.4084 Thompson et al., 2013 DNA SEQ MLH1_03964 - - -
?/? 16 c.1804G>C - p.G602R 36.52 0.999 0.9617 Thompson et al., 2013 DNA SEQ MLH1_03965 - - -
?/? 16 c.1804G>T - p.G602C 19.13 1 0.8531 Thompson et al., 2013 DNA SEQ MLH1_03966 - - -
?/? 16 c.1805G>A - p.G602D 35.86 0.999 0.9601 Thompson et al., 2013 DNA SEQ MLH1_03967 - - -
?/? 16 c.1805G>C - p.G602A 22.05 0.999 0.8887 Thompson et al., 2013 DNA SEQ MLH1_03968 - - -
?/? 16 c.1805G>T - p.G602V 29.36 0.999 0.9386 Thompson et al., 2013 DNA SEQ MLH1_03969 - - -
?/? 16 c.1807C>A - p.P603T 4.2 0.299 0.0093 Thompson et al., 2013 DNA SEQ MLH1_03970 - - -
?/? 16 c.1807C>G - p.P603A 4.08 0.052 0.0031 Thompson et al., 2013 DNA SEQ MLH1_03971 - - -
?/? 16 c.1807C>T - p.P603S 3.92 0.015 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03972 - - -
?/? 16 c.1808C>A - p.P603H 11.72 0.677 0.3255 Thompson et al., 2013 DNA SEQ MLH1_03973 - - -
?/? 16 c.1808C>G - p.P603R 34.32 0.725 0.8715 Thompson et al., 2013 DNA SEQ MLH1_03974 - - -
?/? 16 c.1808C>T - p.P603L 8.18 0.387 0.0584 Thompson et al., 2013 DNA SEQ MLH1_03975 - - -
?/? 16 c.1810A>C - p.K604Q 11.6 0.997 0.6482 Thompson et al., 2013 DNA SEQ MLH1_03976 - - -
?/? 16 c.1810A>G - p.K604E 21.29 0.997 0.8797 Thompson et al., 2013 DNA SEQ MLH1_03977 - - -
?/? 16 c.1811A>C - p.K604T 24.98 0.997 0.9131 Thompson et al., 2013 DNA SEQ MLH1_03978 - - -
?/? 16 c.1811A>G - p.K604R 4.57 0.997 0.1819 Thompson et al., 2013 DNA SEQ MLH1_03979 - - -
?/? 16 c.1811A>T - p.K604I 27.34 0.998 0.9283 Thompson et al., 2013 DNA SEQ MLH1_03980 - - -
?/? 16 c.1812A>C - p.K604N 13.23 0.997 0.7129 Thompson et al., 2013 DNA SEQ MLH1_03981 - - -
?/? 16 c.1812A>T - p.K604N 13.23 0.997 0.7129 Thompson et al., 2013 DNA SEQ MLH1_03982 - - -
?/? 16 c.1813G>A - p.E605K 18.2 0.09 0.0971 Thompson et al., 2013 DNA SEQ MLH1_03983 - - -
?/? 16 c.1813G>C - p.E605Q 13.75 0.706 0.4396 Thompson et al., 2013 DNA SEQ MLH1_03984 - - -
?/? 16 c.1814A>C - p.E605A 23.14 0.685 0.7005 Thompson et al., 2013 DNA SEQ MLH1_03985 - - -
?/? 16 c.1814A>G - p.E605G 19.41 0.8 0.7192 Thompson et al., 2013 DNA SEQ MLH1_03986 - - -
?/? 16 c.1814A>T - p.E605V 24.18 0.619 0.6611 Thompson et al., 2013 DNA SEQ MLH1_03987 - - -
?/? 16 c.1815A>C - p.E605D 4.76 0.053 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03988 - - -
?/? 16 c.1815A>T - p.E605D 4.76 0.053 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03989 - - -
?/? 16 c.1816G>A - p.G606R 4.52 0.166 0.0063 Thompson et al., 2013 DNA SEQ MLH1_03990 - - -
?/? 16 c.1816G>C - p.G606R 4.52 0.166 0.0063 Thompson et al., 2013 DNA SEQ MLH1_03991 - - -
?/? 16 c.1817G>A - p.G606E 2.47 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03992 - - -
?/? 16 c.1817G>C - p.G606A 3.93 0.112 0.0036 Thompson et al., 2013 DNA SEQ MLH1_03993 - - -
?/? 16 c.1817G>T - p.G606V 12.47 0.166 0.0593 Thompson et al., 2013 DNA SEQ MLH1_03994 - - -
?/? 16 c.1819C>A - p.L607I 15.46 0.997 0.7796 Thompson et al., 2013 DNA SEQ MLH1_03995 - - -
?/? 16 c.1819C>G - p.L607V 25.8 0.997 0.9188 Thompson et al., 2013 DNA SEQ MLH1_03996 - - -
?/? 16 c.1819C>T - p.L607F 12.59 0.998 0.6902 Thompson et al., 2013 DNA SEQ MLH1_03997 - - -
?/? 16 c.1820T>A - p.L607H 20.32 0.999 0.869 Thompson et al., 2013 DNA SEQ MLH1_03998 - - -
?/? 16 c.1820T>C - p.L607P 36.32 0.998 0.9611 Thompson et al., 2013 DNA SEQ MLH1_03999 - - -
?/? 16 c.1820T>G - p.L607R 33.02 0.998 0.9521 Thompson et al., 2013 DNA SEQ MLH1_04000 - - -
3901 - 4000
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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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