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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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?/? 13 c.1463A>C - p.K488T 4.98 0.005 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03201 - - -
?/? 13 c.1463A>G - p.K488R 2.51 0.119 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03202 - - -
?/? 13 c.1463A>T - p.K488M 2.45 0.334 0.0032 Thompson et al., 2013 DNA SEQ MLH1_03203 - - -
?/? 13 c.1464G>C - p.K488N 2.63 0.119 0.0015 Thompson et al., 2013 DNA SEQ MLH1_03204 - - -
?/? 13 c.1464G>T - p.K488N 2.63 0.119 0.0015 Thompson et al., 2013 DNA SEQ MLH1_03205 - - -
?/? 13 c.1465G>A - p.E489K 2.39 0.01 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03206 - - -
?/? 13 c.1465G>C - p.E489Q 1.84 0.018 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03207 - - -
?/? 13 c.1466A>C - p.E489A 2.96 0.001 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03208 - - -
?/? 13 c.1466A>G - p.E489G 3.56 0.01 0.0019 Thompson et al., 2013 DNA SEQ MLH1_03209 - - -
?/? 13 c.1466A>T - p.E489V 3.81 0.007 0.0022 Thompson et al., 2013 DNA SEQ MLH1_03210 - - -
?/? 13 c.1467A>C - p.E489D 1.6 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03211 - - -
?/? 13 c.1467A>T - p.E489D 1.6 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03212 - - -
?/? 13 c.1468A>C - p.M490L 1.41 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03213 - - -
?/? 13 c.1468A>G - p.M490V 6.13 - 0.0062 Thompson et al., 2013 DNA SEQ MLH1_03214 - - -
?/? 13 c.1468A>T - p.M490L 1.41 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03215 - - -
?/? 13 c.1469T>A - p.M490K 2.89 - 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03216 - - -
?/? 13 c.1469T>C - p.M490T 8.19 0.005 0.0121 Thompson et al., 2013 DNA SEQ MLH1_03217 - - -
?/? 13 c.1469T>G - p.M490R 2.99 0.014 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03218 - - -
?/? 13 c.1470G>A - p.M490I 2.48 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03219 - - -
?/? 13 c.1470G>C - p.M490I 2.48 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03220 - - -
?/? 13 c.1470G>T - p.M490I 2.48 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03221 - - -
?/? 13 c.1471A>C - p.T491P 9.13 0.212 0.0364 Thompson et al., 2013 DNA SEQ MLH1_03222 - - -
?/? 13 c.1471A>G - p.T491A 6.15 0.094 0.0092 Thompson et al., 2013 DNA SEQ MLH1_03223 - - -
?/? 13 c.1471A>T - p.T491S 1.77 0.004 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03224 - - -
?/? 13 c.1472C>A - p.T491N 4.44 0.154 0.0057 Thompson et al., 2013 DNA SEQ MLH1_03225 - - -
?/? 13 c.1472C>G - p.T491S 1.77 0.004 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03226 - - -
?/? 13 c.1472C>T - p.T491I 3.23 0.023 0.0016 Thompson et al., 2013 DNA SEQ MLH1_03227 - - -
?/? 13 c.1474G>A - p.A492T 11.1 0.011 0.0244 Thompson et al., 2013 DNA SEQ MLH1_03228 - - -
?/? 13 c.1474G>C - p.A492P 12.27 0.331 0.1092 Thompson et al., 2013 DNA SEQ MLH1_03229 - - -
?/? 13 c.1474G>T - p.A492S 4.08 0.007 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03230 - - -
?/? 13 c.1475C>A - p.A492E 4.02 0.154 0.0046 Thompson et al., 2013 DNA SEQ MLH1_03231 - - -
?/? 13 c.1475C>G - p.A492G 2.28 0.011 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03232 - - -
?/? 13 c.1475C>T - p.A492V 17.82 0.094 0.0944 Thompson et al., 2013 DNA SEQ MLH1_03233 - - -
?/? 13 c.1477G>A - p.A493T 7.15 0.065 0.0115 Thompson et al., 2013 DNA SEQ MLH1_03234 - - -
?/? 13 c.1477G>C - p.A493P 10.87 0.02 0.0242 Thompson et al., 2013 DNA SEQ MLH1_03235 - - -
?/? 13 c.1477G>T - p.A493S 4.65 0.007 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03236 - - -
?/? 13 c.1478C>A - p.A493D 25.9 0.154 0.2392 Thompson et al., 2013 DNA SEQ MLH1_03237 - - -
?/? 13 c.1478C>G - p.A493G 5.13 0.094 0.0061 Thompson et al., 2013 DNA SEQ MLH1_03238 - - -
?/? 13 c.1478C>T - p.A493V 8.46 0.005 0.013 Thompson et al., 2013 DNA SEQ MLH1_03239 - - -
?/? 13 c.1480T>A - p.C494S 1.62 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03240 - - -
?/? 13 c.1480T>C - p.C494R 4.93 0.001 0.0038 Thompson et al., 2013 DNA SEQ MLH1_03241 - - -
?/? 13 c.1480T>G - p.C494G 1.95 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03242 - - -
?/? 13 c.1481G>A - p.C494Y 3.77 0.024 0.0023 Thompson et al., 2013 DNA SEQ MLH1_03243 - - -
?/? 13 c.1481G>C - p.C494S 1.62 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03244 - - -
?/? 13 c.1481G>T - p.C494F 3.62 0.024 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03245 - - -
?/? 13 c.1482T>G - p.C494W 5.2 0.255 0.0125 Thompson et al., 2013 DNA SEQ MLH1_03246 - - -
?/? 13 c.1483A>C - p.T495P 8.7 0.001 0.0136 Thompson et al., 2013 DNA SEQ MLH1_03247 - - -
?/? 13 c.1483A>G - p.T495A 5.03 0.001 0.004 Thompson et al., 2013 DNA SEQ MLH1_03248 - - -
?/? 13 c.1483A>T - p.T495S 1.89 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03249 - - -
?/? 13 c.1484C>A - p.T495N 3.2 0.002 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03250 - - -
?/? 13 c.1484C>G - p.T495S 1.89 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03251 - - -
?/? 13 c.1484C>T - p.T495I 2.75 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_03252 - - -
?/? 13 c.1486C>A - p.P496T 4.56 0.062 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03253 - - -
?/? 13 c.1486C>G - p.P496A 5.01 0.513 0.0337 Thompson et al., 2013 DNA SEQ MLH1_03254 - - -
?/? 13 c.1486C>T - p.P496S 4.31 0.104 0.0043 Thompson et al., 2013 DNA SEQ MLH1_03255 - - -
?/? 13 c.1487C>A - p.P496H 11.63 0.895 0.5455 Thompson et al., 2013 DNA SEQ MLH1_03256 - - -
?/? 13 c.1487C>G - p.P496R 25.91 0.287 0.3568 Thompson et al., 2013 DNA SEQ MLH1_03257 - - -
?/? 13 c.1487C>T - p.P496L 5.13 0.608 0.0522 Thompson et al., 2013 DNA SEQ MLH1_03258 - - -
?/? 13 c.1489C>G - p.R497G 6.42 0.141 0.0124 Thompson et al., 2013 DNA SEQ MLH1_03259 - - -
?/? 13 c.1489C>T - p.R497W 5.53 0.613 0.0626 Thompson et al., 2013 DNA SEQ MLH1_03260 - - -
?/? 13 c.1490G>A - p.R497Q 2.73 0.026 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03261 - - -
?/? 13 c.1490G>C - p.R497P 6.24 0.307 0.0233 Thompson et al., 2013 DNA SEQ MLH1_03262 - - -
?/? 13 c.1490G>T - p.R497L 12.03 0.141 0.0496 Thompson et al., 2013 DNA SEQ MLH1_03263 - - -
?/? 13 c.1492A>G - p.R498G 24.2 0.241 0.2808 Thompson et al., 2013 DNA SEQ MLH1_03264 - - -
?/? 13 c.1493G>A - p.R498K 4.14 0.007 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03265 - - -
?/? 13 c.1493G>C - p.R498T 23.42 0.062 0.1446 Thompson et al., 2013 DNA SEQ MLH1_03266 - - -
?/? 13 c.1493G>T - p.R498I 26.4 0.294 0.3735 Thompson et al., 2013 DNA SEQ MLH1_03267 - - -
?/? 13 c.1494A>C - p.R498S 20.01 0.01 0.0866 Thompson et al., 2013 DNA SEQ MLH1_03268 - - -
?/? 13 c.1494A>T - p.R498S 20.01 0.01 0.0866 Thompson et al., 2013 DNA SEQ MLH1_03269 - - -
?/? 13 c.1495A>G - p.R499G 24.24 0.43 0.4672 Thompson et al., 2013 DNA SEQ MLH1_03270 - - -
?/? 13 c.1495A>T - p.R499W 19.95 0.884 0.7958 Thompson et al., 2013 DNA SEQ MLH1_03271 - - -
?/? 13 c.1496G>A - p.R499K 4.2 0.016 0.0028 Thompson et al., 2013 DNA SEQ MLH1_03272 - - -
?/? 13 c.1496G>C - p.R499T 23.5 0.136 0.1893 Thompson et al., 2013 DNA SEQ MLH1_03273 - - -
?/? 13 c.1496G>T - p.R499M 14.56 0.416 0.2062 Thompson et al., 2013 DNA SEQ MLH1_03274 - - -
?/? 13 c.1497G>C - p.R499S 20.04 0.013 0.0879 Thompson et al., 2013 DNA SEQ MLH1_03275 - - -
?/? 13 c.1497G>T - p.R499S 20.04 0.013 0.0879 Thompson et al., 2013 DNA SEQ MLH1_03276 - - -
?/? 13 c.1498A>C - p.I500L 2.33 0.027 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03277 - - -
?/? 13 c.1498A>G - p.I500V 1.67 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03278 - - -
?/? 13 c.1498A>T - p.I500F 3.3 0.118 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03279 - - -
?/? 13 c.1499T>A - p.I500N 2.58 0.006 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03280 - - -
?/? 13 c.1499T>C - p.I500T 3.38 0.019 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03281 - - -
?/? 13 c.1499T>G - p.I500S 4.49 0.027 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03282 - - -
?/? 13 c.1500C>G - p.I500M 2.44 0.069 0.001 Thompson et al., 2013 DNA SEQ MLH1_03283 - - -
?/? 13 c.1501A>C - p.I501L 8.27 0.016 0.0129 Thompson et al., 2013 DNA SEQ MLH1_03284 - - -
?/? 13 c.1501A>G - p.I501V 4.06 0.004 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03285 - - -
?/? 13 c.1501A>T - p.I501F 6.7 0.028 0.0085 Thompson et al., 2013 DNA SEQ MLH1_03286 - - -
?/? 13 c.1502T>A - p.I501N 12.83 0.616 0.3136 Thompson et al., 2013 DNA SEQ MLH1_03287 - - -
?/? 13 c.1502T>C - p.I501T 9.94 0.028 0.0205 Thompson et al., 2013 DNA SEQ MLH1_03288 - - -
?/? 13 c.1502T>G - p.I501S 9.29 0.322 0.059 Thompson et al., 2013 DNA SEQ MLH1_03289 - - -
?/? 13 c.1503T>G - p.I501M 11.9 0.279 0.084 Thompson et al., 2013 DNA SEQ MLH1_03290 - - -
?/? 13 c.1504A>C - p.N502H 2.07 0.156 0.001 Thompson et al., 2013 DNA SEQ MLH1_03291 - - -
?/? 13 c.1504A>G - p.N502D 3.88 0.027 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03292 - - -
?/? 13 c.1504A>T - p.N502Y 4.44 0.182 0.0064 Thompson et al., 2013 DNA SEQ MLH1_03293 - - -
?/? 13 c.1505A>C - p.N502T 3.73 0.001 0.002 Thompson et al., 2013 DNA SEQ MLH1_03294 - - -
?/? 13 c.1505A>G - p.N502S 2.78 0.019 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03295 - - -
?/? 13 c.1505A>T - p.N502I 8.6 0.108 0.0207 Thompson et al., 2013 DNA SEQ MLH1_03296 - - -
?/? 13 c.1506C>A - p.N502K 2.13 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03297 - - -
?/? 13 c.1506C>G - p.N502K 2.13 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03298 - - -
?/? 13 c.1507C>A - p.L503I 9.29 0.971 0.499 Thompson et al., 2013 DNA SEQ MLH1_03299 - - -
?/? 13 c.1507C>G - p.L503V 15.73 0.953 0.753 Thompson et al., 2013 DNA SEQ MLH1_03300 - - -
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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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