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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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?/? 10 c.828A>G - p.I276M 10.25 0.58 0.1906 Thompson et al., 2013 DNA SEQ MLH1_02011 - - -
?/? 10 c.829G>A - p.E277K 18.2 0.951 0.8081 Thompson et al., 2013 DNA SEQ MLH1_02012 - - -
?/? 10 c.829G>C - p.E277Q 13.76 0.835 0.5765 Thompson et al., 2013 DNA SEQ MLH1_02013 - - -
?/? 10 c.830A>C - p.E277A 23.13 0.982 0.8922 Thompson et al., 2013 DNA SEQ MLH1_02014 - - -
?/? 10 c.830A>G - p.E277G 19.35 0.983 0.8472 Thompson et al., 2013 DNA SEQ MLH1_02015 - - -
?/? 10 c.830A>T - p.E277V 24.26 0.993 0.9063 Thompson et al., 2013 DNA SEQ MLH1_02016 - - -
?/? 10 c.831A>C - p.E277D 4.66 0.493 0.0264 Thompson et al., 2013 DNA SEQ MLH1_02017 - - -
?/? 10 c.831A>T - p.E277D 4.66 0.493 0.0264 Thompson et al., 2013 DNA SEQ MLH1_02018 - - -
?/? 10 c.832A>C - p.T278P 8.14 0.128 0.0199 Thompson et al., 2013 DNA SEQ MLH1_02019 - - -
?/? 10 c.832A>G - p.T278A 5.23 0.002 0.0043 Thompson et al., 2013 DNA SEQ MLH1_02020 - - -
?/? 10 c.832A>T - p.T278S 1.62 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02021 - - -
?/? 10 c.833C>A - p.T278K 27.53 0.053 0.1902 Thompson et al., 2013 DNA SEQ MLH1_02022 - - -
?/? 10 c.833C>G - p.T278R 32.18 0.09 0.2816 Thompson et al., 2013 DNA SEQ MLH1_02023 - - -
?/? 10 c.833C>T - p.T278I 5.28 0.128 0.0076 Thompson et al., 2013 DNA SEQ MLH1_02024 - - -
?/? 10 c.835G>A - p.V279M 24.43 0.841 0.8371 Thompson et al., 2013 DNA SEQ MLH1_02025 - - -
?/? 10 c.835G>C - p.V279L 20.81 0.595 0.556 Thompson et al., 2013 DNA SEQ MLH1_02026 - - -
?/? 10 c.835G>T - p.V279L 20.81 0.595 0.556 Thompson et al., 2013 DNA SEQ MLH1_02027 - - -
?/? 10 c.836T>A - p.V279E 32.45 0.988 0.9482 Thompson et al., 2013 DNA SEQ MLH1_02028 - - -
?/? 10 c.836T>C - p.V279A 27.75 0.97 0.9224 Thompson et al., 2013 DNA SEQ MLH1_02029 - - -
?/? 10 c.836T>G - p.V279G 23.22 0.993 0.8975 Thompson et al., 2013 DNA SEQ MLH1_02030 - - -
?/? 10 c.838T>A - p.Y280N 17.86 0.999 0.8319 Thompson et al., 2013 DNA SEQ MLH1_02031 - - -
?/? 10 c.838T>C - p.Y280H 16.52 0.999 0.8057 Thompson et al., 2013 DNA SEQ MLH1_02032 - - -
?/? 10 c.838T>G - p.Y280D 35.81 0.999 0.96 Thompson et al., 2013 DNA SEQ MLH1_02033 - - -
?/? 10 c.839A>C - p.Y280S 18.59 0.999 0.8442 Thompson et al., 2013 DNA SEQ MLH1_02034 - - -
?/? 10 c.839A>G - p.Y280C 23.02 1 0.8984 Thompson et al., 2013 DNA SEQ MLH1_02035 - - -
?/? 10 c.839A>T - p.Y280F 22.82 0.999 0.8962 Thompson et al., 2013 DNA SEQ MLH1_02036 - - -
?/? 10 c.841G>A - p.A281T 5.82 0.359 0.0248 Thompson et al., 2013 DNA SEQ MLH1_02037 - - -
?/? 10 c.841G>C - p.A281P 8.25 0.971 0.4321 Thompson et al., 2013 DNA SEQ MLH1_02038 - - -
?/? 10 c.841G>T - p.A281S 2.6 0.242 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02039 - - -
?/? 10 c.842C>A - p.A281E 4.54 0.496 0.0253 Thompson et al., 2013 DNA SEQ MLH1_02040 - - -
?/? 10 c.842C>G - p.A281G 2.73 0.496 0.0081 Thompson et al., 2013 DNA SEQ MLH1_02041 - - -
?/? 10 c.842C>T - p.A281V 8.47 0.899 0.3728 Thompson et al., 2013 DNA SEQ MLH1_02042 - - -
?/? 10 c.844G>A - p.A282T 7.34 0.023 0.0102 Thompson et al., 2013 DNA SEQ MLH1_02043 - - -
?/? 10 c.844G>C - p.A282P 10.31 0.638 0.234 Thompson et al., 2013 DNA SEQ MLH1_02044 - - -
?/? 10 c.844G>T - p.A282S 5.06 0.04 0.0047 Thompson et al., 2013 DNA SEQ MLH1_02045 - - -
?/? 10 c.845C>A - p.A282D 41.72 0.638 0.8794 Thompson et al., 2013 DNA SEQ MLH1_02046 - - -
?/? 10 c.845C>G - p.A282G 5.47 0.395 0.0251 Thompson et al., 2013 DNA SEQ MLH1_02047 - - -
?/? 10 c.845C>T - p.A282V 7.63 0.04 0.0119 Thompson et al., 2013 DNA SEQ MLH1_02048 - - -
?/? 10 c.847T>A - p.Y283N 17.86 0.999 0.8319 Thompson et al., 2013 DNA SEQ MLH1_02049 - - -
?/? 10 c.847T>C - p.Y283H 16.52 0.999 0.8057 Thompson et al., 2013 DNA SEQ MLH1_02050 - - -
?/? 10 c.847T>G - p.Y283D 35.81 0.999 0.96 Thompson et al., 2013 DNA SEQ MLH1_02051 - - -
?/? 10 c.848A>C - p.Y283S 18.59 0.999 0.8442 Thompson et al., 2013 DNA SEQ MLH1_02052 - - -
?/? 10 c.848A>G - p.Y283C 23.02 1 0.8984 Thompson et al., 2013 DNA SEQ MLH1_02053 - - -
?/? 10 c.848A>T - p.Y283F 22.82 0.999 0.8962 Thompson et al., 2013 DNA SEQ MLH1_02054 - - -
?/? 10 c.850T>A - p.L284M 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_02055 - - -
?/? 10 c.850T>G - p.L284V 25.8 0.999 0.9194 Thompson et al., 2013 DNA SEQ MLH1_02056 - - -
?/? 10 c.851T>C - p.L284S 22.76 1 0.896 Thompson et al., 2013 DNA SEQ MLH1_02057 - - -
?/? 10 c.851T>G - p.L284W 22.06 1 0.8892 Thompson et al., 2013 DNA SEQ MLH1_02058 - - -
?/? 10 c.852G>C - p.L284F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_02059 - - -
?/? 10 c.852G>T - p.L284F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_02060 - - -
?/? 10 c.853C>A - p.P285T 17.77 0.994 0.8273 Thompson et al., 2013 DNA SEQ MLH1_02061 - - -
?/? 10 c.853C>G - p.P285A 20 0.911 0.8147 Thompson et al., 2013 DNA SEQ MLH1_02062 - - -
?/? 10 c.853C>T - p.P285S 17.5 0.99 0.8197 Thompson et al., 2013 DNA SEQ MLH1_02063 - - -
?/? 10 c.854C>A - p.P285H 19.31 0.997 0.8542 Thompson et al., 2013 DNA SEQ MLH1_02064 - - -
?/? 10 c.854C>G - p.P285R 41.48 0.997 0.9708 Thompson et al., 2013 DNA SEQ MLH1_02065 - - -
?/? 10 c.854C>T - p.P285L 26.92 0.994 0.9248 Thompson et al., 2013 DNA SEQ MLH1_02066 - - -
?/? 10 c.856A>C - p.K286Q 14.08 0.996 0.7401 Thompson et al., 2013 DNA SEQ MLH1_02067 - - -
?/? 10 c.856A>G - p.K286E 23.7 0.992 0.9013 Thompson et al., 2013 DNA SEQ MLH1_02068 - - -
?/? 10 c.857A>C - p.K286T 27.99 0.996 0.9313 Thompson et al., 2013 DNA SEQ MLH1_02069 - - -
?/? 10 c.857A>G - p.K286R 7.31 0.911 0.3093 Thompson et al., 2013 DNA SEQ MLH1_02070 - - -
?/? 10 c.857A>T - p.K286I 25.96 0.997 0.9198 Thompson et al., 2013 DNA SEQ MLH1_02071 - - -
?/? 10 c.858A>C - p.K286N 14.55 0.996 0.7542 Thompson et al., 2013 DNA SEQ MLH1_02072 - - -
?/? 10 c.858A>T - p.K286N 14.55 0.996 0.7542 Thompson et al., 2013 DNA SEQ MLH1_02073 - - -
?/? 10 c.859A>C - p.N287H 11.48 0.02 0.0273 Thompson et al., 2013 DNA SEQ MLH1_02074 - - -
?/? 10 c.859A>G - p.N287D 24.03 0.154 0.2097 Thompson et al., 2013 DNA SEQ MLH1_02075 - - -
?/? 10 c.859A>T - p.N287Y 9.95 0.403 0.0938 Thompson et al., 2013 DNA SEQ MLH1_02076 - - -
?/? 10 c.860A>C - p.N287T 8.09 0.068 0.0153 Thompson et al., 2013 DNA SEQ MLH1_02077 - - -
?/? 10 c.860A>G - p.N287S 3.71 0.005 0.002 Thompson et al., 2013 DNA SEQ MLH1_02078 - - -
?/? 10 c.860A>T - p.N287I 9.63 0.529 0.1412 Thompson et al., 2013 DNA SEQ MLH1_02079 - - -
?/? 10 c.861C>A - p.N287K 23.09 0.011 0.1164 Thompson et al., 2013 DNA SEQ MLH1_02080 - - -
?/? 10 c.861C>G - p.N287K 23.09 0.011 0.1164 Thompson et al., 2013 DNA SEQ MLH1_02081 - - -
?/? 10 c.862A>C - p.T288P 8.85 0.452 0.0891 Thompson et al., 2013 DNA SEQ MLH1_02082 - - -
?/? 10 c.862A>G - p.T288A 6.49 0.022 0.0077 Thompson et al., 2013 DNA SEQ MLH1_02083 - - -
?/? 10 c.862A>T - p.T288S 1.35 0.011 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02084 - - -
?/? 10 c.863C>A - p.T288K 26.57 0.019 0.1579 Thompson et al., 2013 DNA SEQ MLH1_02085 - - -
?/? 10 c.863C>G - p.T288R 30.41 0.311 0.4691 Thompson et al., 2013 DNA SEQ MLH1_02086 - - -
?/? 10 c.863C>T - p.T288I 6.16 0.578 0.0685 Thompson et al., 2013 DNA SEQ MLH1_02087 - - -
?/? 10 c.865C>A - p.H289N 17.77 0.99 0.8248 Thompson et al., 2013 DNA SEQ MLH1_02088 - - -
?/? 10 c.865C>G - p.H289D 36.64 0.993 0.961 Thompson et al., 2013 DNA SEQ MLH1_02089 - - -
?/? 10 c.865C>T - p.H289Y 18.27 0.595 0.4824 Thompson et al., 2013 DNA SEQ MLH1_02090 - - -
?/? 10 c.866A>C - p.H289P 43.5 0.995 0.9735 Thompson et al., 2013 DNA SEQ MLH1_02091 - - -
?/? 10 c.866A>G - p.H289R 31.55 0.993 0.9461 Thompson et al., 2013 DNA SEQ MLH1_02092 - - -
?/? 10 c.866A>T - p.H289L 25.24 0.99 0.9126 Thompson et al., 2013 DNA SEQ MLH1_02093 - - -
?/? 10 c.867C>A - p.H289Q 14.29 0.993 0.7441 Thompson et al., 2013 DNA SEQ MLH1_02094 - - -
?/? 10 c.867C>G - p.H289Q 14.29 0.993 0.7441 Thompson et al., 2013 DNA SEQ MLH1_02095 - - -
?/? 10 c.868C>A - p.P290T 17.77 0.995 0.8279 Thompson et al., 2013 DNA SEQ MLH1_02096 - - -
?/? 10 c.868C>G - p.P290A 20 0.996 0.8633 Thompson et al., 2013 DNA SEQ MLH1_02097 - - -
?/? 10 c.868C>T - p.P290S 17.5 0.96 0.8001 Thompson et al., 2013 DNA SEQ MLH1_02098 - - -
?/? 10 c.869C>A - p.P290Q 17.67 0.999 0.8285 Thompson et al., 2013 DNA SEQ MLH1_02099 - - -
?/? 10 c.869C>G - p.P290R 41.48 0.999 0.971 Thompson et al., 2013 DNA SEQ MLH1_02100 - - -
?/? 10 c.869C>T - p.P290L 26.92 0.999 0.9263 Thompson et al., 2013 DNA SEQ MLH1_02101 - - -
?/? 10 c.871T>A - p.F291I 10.86 0.995 0.6113 Thompson et al., 2013 DNA SEQ MLH1_02102 - - -
?/? 10 c.871T>C - p.F291L 12.82 0.982 0.6844 Thompson et al., 2013 DNA SEQ MLH1_02103 - - -
?/? 10 c.871T>G - p.F291V 17.61 0.993 0.8237 Thompson et al., 2013 DNA SEQ MLH1_02104 - - -
?/? 10 c.872T>A - p.F291Y 16.28 0.973 0.7821 Thompson et al., 2013 DNA SEQ MLH1_02105 - - -
?/? 10 c.872T>C - p.F291S 19.43 0.993 0.8538 Thompson et al., 2013 DNA SEQ MLH1_02106 - - -
?/? 10 c.872T>G - p.F291C 17.91 0.996 0.831 Thompson et al., 2013 DNA SEQ MLH1_02107 - - -
?/? 10 c.873C>A - p.F291L 12.82 0.982 0.6844 Thompson et al., 2013 DNA SEQ MLH1_02108 - - -
?/? 10 c.873C>G - p.F291L 12.82 0.982 0.6844 Thompson et al., 2013 DNA SEQ MLH1_02109 - - -
?/? 10 c.874C>A - p.L292M 10.34 0.725 0.3082 Thompson et al., 2013 DNA SEQ MLH1_02110 - - -
1801 - 1900
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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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