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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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?/? 18 c.2095G>C - p.G699R 3.8 0.005 0.0021 Thompson et al., 2013 DNA SEQ MLH1_04601 - - -
?/? 18 c.2095G>T - p.G699C 3.84 0.295 0.0075 Thompson et al., 2013 DNA SEQ MLH1_04602 - - -
?/? 18 c.2096G>A - p.G699D 3.17 0.046 0.0017 Thompson et al., 2013 DNA SEQ MLH1_04603 - - -
?/? 18 c.2096G>C - p.G699A 3.49 0.006 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04604 - - -
?/? 18 c.2096G>T - p.G699V 5.64 0.079 0.0071 Thompson et al., 2013 DNA SEQ MLH1_04605 - - -
?/? 18 c.2098C>A - p.Q700K 3.63 0.031 0.0021 Thompson et al., 2013 DNA SEQ MLH1_04606 - - -
?/? 18 c.2098C>G - p.Q700E 2.03 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04607 - - -
?/? 18 c.2099A>C - p.Q700P 4.24 0.053 0.0034 Thompson et al., 2013 DNA SEQ MLH1_04608 - - -
?/? 18 c.2099A>G - p.Q700R 4.05 0.031 0.0028 Thompson et al., 2013 DNA SEQ MLH1_04609 - - -
?/? 18 c.2099A>T - p.Q700L 9.61 0.05 0.0208 Thompson et al., 2013 DNA SEQ MLH1_04610 - - -
?/? 18 c.2100G>C - p.Q700H 2.93 0.171 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04611 - - -
?/? 18 c.2100G>T - p.Q700H 2.93 0.171 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04612 - - -
?/? 18 c.2101C>A - p.Q701K 4.59 0.031 0.0037 Thompson et al., 2013 DNA SEQ MLH1_04613 - - -
?/? 18 c.2101C>G - p.Q701E 4.4 0.031 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04614 - - -
?/? 18 c.2102A>C - p.Q701P 3.36 0.135 0.0028 Thompson et al., 2013 DNA SEQ MLH1_04615 - - -
?/? 18 c.2102A>G - p.Q701R 5.5 0.05 0.006 Thompson et al., 2013 DNA SEQ MLH1_04616 - - -
?/? 18 c.2102A>T - p.Q701L 3.17 0.031 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04617 - - -
?/? 18 c.2103G>C - p.Q701H 2.56 0.256 0.0025 Thompson et al., 2013 DNA SEQ MLH1_04618 - - -
?/? 18 c.2103G>T - p.Q701H 2.56 0.256 0.0025 Thompson et al., 2013 DNA SEQ MLH1_04619 - - -
?/? 19 c.2104A>C - p.S702R 3.41 0.031 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04620 - - -
?/? 19 c.2104A>G - p.S702G 2.29 0.031 0.0008 Thompson et al., 2013 DNA SEQ MLH1_04621 - - -
?/? 19 c.2104A>T - p.S702C 2.51 0.433 0.0051 Thompson et al., 2013 DNA SEQ MLH1_04622 - - -
?/? 19 c.2105G>A - p.S702N 1.51 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04623 - - -
?/? 19 c.2105G>C - p.S702T 2.55 0.031 0.001 Thompson et al., 2013 DNA SEQ MLH1_04624 - - -
?/? 19 c.2105G>T - p.S702I 2.95 0.12 0.002 Thompson et al., 2013 DNA SEQ MLH1_04625 - - -
?/? 19 c.2106T>A - p.S702R 3.41 0.031 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04626 - - -
?/? 19 c.2106T>G - p.S702R 3.41 0.031 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04627 - - -
?/? 19 c.2107G>A - p.E703K 3.64 0.001 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04628 - - -
?/? 19 c.2107G>C - p.E703Q 2.04 0.031 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04629 - - -
?/? 19 c.2108A>C - p.E703A 3.51 0.018 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04630 - - -
?/? 19 c.2108A>G - p.E703G 3.22 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04631 - - -
?/? 19 c.2108A>T - p.E703V 3.32 0.031 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04632 - - -
?/? 19 c.2109A>C - p.E703D 2.42 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_04633 - - -
?/? 19 c.2109A>T - p.E703D 2.42 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_04634 - - -
?/? 19 c.2110G>A - p.V704M 2.3 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04635 - - -
?/? 19 c.2110G>C - p.V704L 2.57 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04636 - - -
?/? 19 c.2110G>T - p.V704L 2.57 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04637 - - -
?/? 19 c.2111T>A - p.V704E 2.09 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04638 - - -
?/? 19 c.2111T>C - p.V704A 2.97 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04639 - - -
?/? 19 c.2111T>G - p.V704G 2.62 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04640 - - -
?/? 19 c.2113C>A - p.P705T 2.05 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04641 - - -
?/? 19 c.2113C>G - p.P705A 3.19 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04642 - - -
?/? 19 c.2113C>T - p.P705S 2.94 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04643 - - -
?/? 19 c.2114C>A - p.P705H 4.54 0.047 0.0038 Thompson et al., 2013 DNA SEQ MLH1_04644 - - -
?/? 19 c.2114C>G - p.P705R 7.05 0.01 0.0088 Thompson et al., 2013 DNA SEQ MLH1_04645 - - -
?/? 19 c.2114C>T - p.P705L 7.53 0.001 0.0098 Thompson et al., 2013 DNA SEQ MLH1_04646 - - -
?/? 19 c.2116G>A - p.G706S 1.79 0.003 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04647 - - -
?/? 19 c.2116G>C - p.G706R 4.18 0.112 0.0042 Thompson et al., 2013 DNA SEQ MLH1_04648 - - -
?/? 19 c.2116G>T - p.G706C 4.65 0.41 0.0186 Thompson et al., 2013 DNA SEQ MLH1_04649 - - -
?/? 19 c.2117G>A - p.G706D 1.81 0.002 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04650 - - -
?/? 19 c.2117G>C - p.G706A 5.27 0.046 0.0053 Thompson et al., 2013 DNA SEQ MLH1_04651 - - -
?/? 19 c.2117G>T - p.G706V 6.69 0.001 0.0075 Thompson et al., 2013 DNA SEQ MLH1_04652 - - -
?/? 19 c.2119T>A - p.S707T 3.81 - 0.0021 Thompson et al., 2013 DNA SEQ MLH1_04653 - - -
?/? 19 c.2119T>C - p.S707P 10.4 0.079 0.028 Thompson et al., 2013 DNA SEQ MLH1_04654 - - -
?/? 19 c.2119T>G - p.S707A 7.64 0.001 0.0102 Thompson et al., 2013 DNA SEQ MLH1_04655 - - -
?/? 19 c.2120C>A - p.S707Y 6.95 0.105 0.0127 Thompson et al., 2013 DNA SEQ MLH1_04656 - - -
?/? 19 c.2120C>G - p.S707C 5.26 0.204 0.0103 Thompson et al., 2013 DNA SEQ MLH1_04657 - - -
?/? 19 c.2120C>T - p.S707F 4.79 0.105 0.0055 Thompson et al., 2013 DNA SEQ MLH1_04658 - - -
?/? 19 c.2122A>C - p.I708L 3.53 0.003 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04659 - - -
?/? 19 c.2122A>G - p.I708V 3.14 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04660 - - -
?/? 19 c.2122A>T - p.I708F 3.24 0.005 0.0015 Thompson et al., 2013 DNA SEQ MLH1_04661 - - -
?/? 19 c.2123T>A - p.I708N 1.56 0.003 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04662 - - -
?/? 19 c.2123T>C - p.I708T 2.16 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04663 - - -
?/? 19 c.2123T>G - p.I708S 1.73 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04664 - - -
?/? 19 c.2124T>G - p.I708M 2.54 0.013 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04665 - - -
?/? 19 c.2125C>A - p.P709T 2.18 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04666 - - -
?/? 19 c.2125C>G - p.P709A 4.98 - 0.0039 Thompson et al., 2013 DNA SEQ MLH1_04667 - - -
?/? 19 c.2125C>T - p.P709S 1.42 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04668 - - -
?/? 19 c.2126C>A - p.P709Q 3.17 0.01 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04669 - - -
?/? 19 c.2126C>G - p.P709R 4.67 - 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04670 - - -
?/? 19 c.2126C>T - p.P709L 7.47 0.004 0.0098 Thompson et al., 2013 DNA SEQ MLH1_04671 - - -
?/? 19 c.2128A>C - p.N710H 1.7 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04672 - - -
?/? 19 c.2128A>G - p.N710D 4.68 0.001 0.0034 Thompson et al., 2013 DNA SEQ MLH1_04673 - - -
?/? 19 c.2128A>T - p.N710Y 2.32 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04674 - - -
?/? 19 c.2129A>C - p.N710T 1.93 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04675 - - -
?/? 19 c.2129A>G - p.N710S 1.67 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04676 - - -
?/? 19 c.2129A>T - p.N710I 2.37 0.006 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04677 - - -
?/? 19 c.2130C>A - p.N710K 3.38 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04678 - - -
?/? 19 c.2130C>G - p.N710K 3.38 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04679 - - -
?/? 19 c.2131T>A - p.S711T 2.3 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04680 - - -
?/? 19 c.2131T>C - p.S711P 2.63 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04681 - - -
?/? 19 c.2131T>G - p.S711A 6.28 0.018 0.007 Thompson et al., 2013 DNA SEQ MLH1_04682 - - -
?/? 19 c.2132C>A - p.S711Y 7.54 0.105 0.0153 Thompson et al., 2013 DNA SEQ MLH1_04683 - - -
?/? 19 c.2132C>G - p.S711C 6.82 0.204 0.0185 Thompson et al., 2013 DNA SEQ MLH1_04684 - - -
?/? 19 c.2132C>T - p.S711F 11.03 0.105 0.0355 Thompson et al., 2013 DNA SEQ MLH1_04685 - - -
?/? 19 c.2134T>A - p.W712R 37.82 0.981 0.9618 Thompson et al., 2013 DNA SEQ MLH1_04686 - - -
?/? 19 c.2134T>C - p.W712R 37.82 0.981 0.9618 Thompson et al., 2013 DNA SEQ MLH1_04687 - - -
?/? 19 c.2134T>G - p.W712G 23.29 0.975 0.8909 Thompson et al., 2013 DNA SEQ MLH1_04688 - - -
?/? 19 c.2135G>C - p.W712S 16.73 0.975 0.7939 Thompson et al., 2013 DNA SEQ MLH1_04689 - - -
?/? 19 c.2135G>T - p.W712L 33.15 0.457 0.6669 Thompson et al., 2013 DNA SEQ MLH1_04690 - - -
?/? 19 c.2136G>C - p.W712C 29.05 0.968 0.929 Thompson et al., 2013 DNA SEQ MLH1_04691 - - -
?/? 19 c.2136G>T - p.W712C 29.05 0.968 0.929 Thompson et al., 2013 DNA SEQ MLH1_04692 - - -
?/? 19 c.2137A>C - p.K713Q 5.41 0.086 0.0067 Thompson et al., 2013 DNA SEQ MLH1_04693 - - -
?/? 19 c.2137A>G - p.K713E 14.15 0.381 0.1733 Thompson et al., 2013 DNA SEQ MLH1_04694 - - -
?/? 19 c.2138A>C - p.K713T 19.69 0.652 0.5848 Thompson et al., 2013 DNA SEQ MLH1_04695 - - -
?/? 19 c.2138A>G - p.K713R 4.25 0.044 0.0032 Thompson et al., 2013 DNA SEQ MLH1_04696 - - -
?/? 19 c.2138A>T - p.K713M 13.9 0.851 0.5986 Thompson et al., 2013 DNA SEQ MLH1_04697 - - -
?/? 19 c.2139G>C - p.K713N 8.97 0.72 0.24 Thompson et al., 2013 DNA SEQ MLH1_04698 - - -
?/? 19 c.2139G>T - p.K713N 8.97 0.72 0.24 Thompson et al., 2013 DNA SEQ MLH1_04699 - - -
?/? 19 c.2140T>A - p.W714R 25.12 0.912 0.8811 Thompson et al., 2013 DNA SEQ MLH1_04700 - - -
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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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