View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
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

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

4981 public entries
entries per page

Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
MAPP score Hide MAPP score column Descending
Ascending
Custom PP2.1 score Hide Custom PP2.1 score column Descending
Ascending
MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
?/? 13 c.1507C>T - p.L503F 7.8 0.454 0.0689 Thompson et al., 2013 DNA SEQ MLH1_03301 - - -
?/? 13 c.1508T>A - p.L503H 17.86 0.997 0.8307 Thompson et al., 2013 DNA SEQ MLH1_03302 - - -
?/? 13 c.1508T>C - p.L503P 21.32 0.99 0.8768 Thompson et al., 2013 DNA SEQ MLH1_03303 - - -
?/? 13 c.1508T>G - p.L503R 32.44 0.99 0.9486 Thompson et al., 2013 DNA SEQ MLH1_03304 - - -
?/? 13 c.1510A>C - p.T504P 14.78 0.866 0.6463 Thompson et al., 2013 DNA SEQ MLH1_03305 - - -
?/? 13 c.1510A>G - p.T504A 10.06 0.513 0.145 Thompson et al., 2013 DNA SEQ MLH1_03306 - - -
?/? 13 c.1510A>T - p.T504S 3.46 0.062 0.0022 Thompson et al., 2013 DNA SEQ MLH1_03307 - - -
?/? 13 c.1511C>A - p.T504N 12.98 0.825 0.5333 Thompson et al., 2013 DNA SEQ MLH1_03308 - - -
?/? 13 c.1511C>G - p.T504S 3.46 0.062 0.0022 Thompson et al., 2013 DNA SEQ MLH1_03309 - - -
?/? 13 c.1511C>T - p.T504I 4.21 0.192 0.0059 Thompson et al., 2013 DNA SEQ MLH1_03310 - - -
?/? 13 c.1513A>C - p.S505R 36.37 0.996 0.9609 Thompson et al., 2013 DNA SEQ MLH1_03311 - - -
?/? 13 c.1513A>G - p.S505G 9.08 0.986 0.502 Thompson et al., 2013 DNA SEQ MLH1_03312 - - -
?/? 13 c.1513A>T - p.S505C 20.41 0.996 0.8687 Thompson et al., 2013 DNA SEQ MLH1_03313 - - -
?/? 13 c.1514G>A - p.S505N 14.09 0.995 0.7396 Thompson et al., 2013 DNA SEQ MLH1_03314 - - -
?/? 13 c.1514G>C - p.S505T 13.44 0.993 0.7167 Thompson et al., 2013 DNA SEQ MLH1_03315 - - -
?/? 13 c.1514G>T - p.S505I 29.33 0.996 0.9378 Thompson et al., 2013 DNA SEQ MLH1_03316 - - -
?/? 13 c.1515T>A - p.S505R 36.37 0.996 0.9609 Thompson et al., 2013 DNA SEQ MLH1_03317 - - -
?/? 13 c.1515T>G - p.S505R 36.37 0.996 0.9609 Thompson et al., 2013 DNA SEQ MLH1_03318 - - -
?/? 13 c.1516G>A - p.V506I 4.23 0.03 0.003 Thompson et al., 2013 DNA SEQ MLH1_03319 - - -
?/? 13 c.1516G>C - p.V506L 12.59 0.026 0.0342 Thompson et al., 2013 DNA SEQ MLH1_03320 - - -
?/? 13 c.1516G>T - p.V506F 10.71 0.607 0.2259 Thompson et al., 2013 DNA SEQ MLH1_03321 - - -
?/? 13 c.1517T>A - p.V506D 31.98 0.851 0.9081 Thompson et al., 2013 DNA SEQ MLH1_03322 - - -
?/? 13 c.1517T>C - p.V506A 20.29 0.409 0.3487 Thompson et al., 2013 DNA SEQ MLH1_03323 - - -
?/? 13 c.1517T>G - p.V506G 14.63 0.813 0.5876 Thompson et al., 2013 DNA SEQ MLH1_03324 - - -
?/? 13 c.1519T>A - p.L507M 2.73 0.667 0.0166 Thompson et al., 2013 DNA SEQ MLH1_03325 - - -
?/? 13 c.1519T>G - p.L507V 9.63 0.377 0.0792 Thompson et al., 2013 DNA SEQ MLH1_03326 - - -
?/? 13 c.1520T>C - p.L507S 12.59 0.044 0.0369 Thompson et al., 2013 DNA SEQ MLH1_03327 - - -
?/? 13 c.1520T>G - p.L507W 10.23 0.941 0.5218 Thompson et al., 2013 DNA SEQ MLH1_03328 - - -
?/? 13 c.1521G>C - p.L507F 6.24 0.717 0.1203 Thompson et al., 2013 DNA SEQ MLH1_03329 - - -
?/? 13 c.1521G>T - p.L507F 6.24 0.717 0.1203 Thompson et al., 2013 DNA SEQ MLH1_03330 - - -
?/? 13 c.1522A>C - p.S508R 3.66 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03331 - - -
?/? 13 c.1522A>G - p.S508G 2.32 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03332 - - -
?/? 13 c.1522A>T - p.S508C 4.11 0.082 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03333 - - -
?/? 13 c.1523G>A - p.S508N 2.33 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03334 - - -
?/? 13 c.1523G>C - p.S508T 2.93 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03335 - - -
?/? 13 c.1523G>T - p.S508I 5.52 0.018 0.0052 Thompson et al., 2013 DNA SEQ MLH1_03336 - - -
?/? 13 c.1524T>A - p.S508R 3.66 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03337 - - -
?/? 13 c.1524T>G - p.S508R 3.66 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03338 - - -
?/? 13 c.1525C>A - p.L509I 15.46 0.983 0.7691 Thompson et al., 2013 DNA SEQ MLH1_03339 - - -
?/? 13 c.1525C>G - p.L509V 25.8 0.917 0.8894 Thompson et al., 2013 DNA SEQ MLH1_03340 - - -
?/? 13 c.1525C>T - p.L509F 12.59 0.973 0.667 Thompson et al., 2013 DNA SEQ MLH1_03341 - - -
?/? 13 c.1526T>A - p.L509H 20.32 0.997 0.868 Thompson et al., 2013 DNA SEQ MLH1_03342 - - -
?/? 13 c.1526T>C - p.L509P 36.32 0.99 0.9598 Thompson et al., 2013 DNA SEQ MLH1_03343 - - -
?/? 13 c.1526T>G - p.L509R 33.02 0.99 0.9505 Thompson et al., 2013 DNA SEQ MLH1_03344 - - -
?/? 13 c.1528C>A - p.Q510K 2.72 0.006 0.001 Thompson et al., 2013 DNA SEQ MLH1_03345 - - -
?/? 13 c.1528C>G - p.Q510E 7.05 0.027 0.0095 Thompson et al., 2013 DNA SEQ MLH1_03346 - - -
?/? 13 c.1529A>C - p.Q510P 21.02 0.273 0.2453 Thompson et al., 2013 DNA SEQ MLH1_03347 - - -
?/? 13 c.1529A>G - p.Q510R 3.15 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03348 - - -
?/? 13 c.1529A>T - p.Q510L 21.68 0.047 0.1175 Thompson et al., 2013 DNA SEQ MLH1_03349 - - -
?/? 13 c.1530G>C - p.Q510H 4.97 0.005 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03350 - - -
?/? 13 c.1530G>T - p.Q510H 4.97 0.005 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03351 - - -
?/? 13 c.1531G>A - p.E511K 2.35 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03352 - - -
?/? 13 c.1531G>C - p.E511Q 2.68 0.011 0.001 Thompson et al., 2013 DNA SEQ MLH1_03353 - - -
?/? 13 c.1532A>C - p.E511A 8.49 0.006 0.0131 Thompson et al., 2013 DNA SEQ MLH1_03354 - - -
?/? 13 c.1532A>G - p.E511G 4.96 0.046 0.0046 Thompson et al., 2013 DNA SEQ MLH1_03355 - - -
?/? 13 c.1532A>T - p.E511V 12.15 0.112 0.045 Thompson et al., 2013 DNA SEQ MLH1_03356 - - -
?/? 13 c.1533A>C - p.E511D 2.28 0.003 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03357 - - -
?/? 13 c.1533A>T - p.E511D 2.28 0.003 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03358 - - -
?/? 13 c.1534G>A - p.E512K 5 0.013 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03359 - - -
?/? 13 c.1534G>C - p.E512Q 5.01 0.043 0.0047 Thompson et al., 2013 DNA SEQ MLH1_03360 - - -
?/? 13 c.1535A>C - p.E512A 18.98 0.042 0.0879 Thompson et al., 2013 DNA SEQ MLH1_03361 - - -
?/? 13 c.1535A>G - p.E512G 12.24 0.229 0.0732 Thompson et al., 2013 DNA SEQ MLH1_03362 - - -
?/? 13 c.1535A>T - p.E512V 29.69 0.167 0.3119 Thompson et al., 2013 DNA SEQ MLH1_03363 - - -
?/? 13 c.1536A>C - p.E512D 8.46 0.071 0.0171 Thompson et al., 2013 DNA SEQ MLH1_03364 - - -
?/? 13 c.1536A>T - p.E512D 8.46 0.071 0.0171 Thompson et al., 2013 DNA SEQ MLH1_03365 - - -
?/? 13 c.1537A>C - p.I513L 10.17 0.152 0.036 Thompson et al., 2013 DNA SEQ MLH1_03366 - - -
?/? 13 c.1537A>G - p.I513V 6.01 0.003 0.006 Thompson et al., 2013 DNA SEQ MLH1_03367 - - -
?/? 13 c.1537A>T - p.I513F 8.77 0.461 0.0905 Thompson et al., 2013 DNA SEQ MLH1_03368 - - -
?/? 13 c.1538T>A - p.I513N 15.46 0.54 0.3354 Thompson et al., 2013 DNA SEQ MLH1_03369 - - -
?/? 13 c.1538T>C - p.I513T 14.44 0.034 0.0477 Thompson et al., 2013 DNA SEQ MLH1_03370 - - -
?/? 13 c.1538T>G - p.I513S 13.67 0.24 0.0961 Thompson et al., 2013 DNA SEQ MLH1_03371 - - -
?/? 13 c.1539T>G - p.I513M 14.89 0.034 0.051 Thompson et al., 2013 DNA SEQ MLH1_03372 - - -
?/? 13 c.1540A>C - p.N514H 2.69 0.07 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03373 - - -
?/? 13 c.1540A>G - p.N514D 2.32 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03374 - - -
?/? 13 c.1540A>T - p.N514Y 4.38 0.07 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03375 - - -
?/? 13 c.1541A>C - p.N514T 3.5 0.006 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03376 - - -
?/? 13 c.1541A>G - p.N514S 2.52 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03377 - - -
?/? 13 c.1541A>T - p.N514I 8.43 0.064 0.0165 Thompson et al., 2013 DNA SEQ MLH1_03378 - - -
?/? 13 c.1542T>A - p.N514K 2.03 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03379 - - -
?/? 13 c.1542T>G - p.N514K 2.03 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03380 - - -
?/? 13 c.1543G>A - p.E515K 2.4 0.003 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03381 - - -
?/? 13 c.1543G>C - p.E515Q 1.84 0.006 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03382 - - -
?/? 13 c.1544A>C - p.E515A 3.84 0.026 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03383 - - -
?/? 13 c.1544A>G - p.E515G 3.94 0.026 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03384 - - -
?/? 13 c.1544A>T - p.E515V 5.53 0.066 0.0065 Thompson et al., 2013 DNA SEQ MLH1_03385 - - -
?/? 13 c.1545G>C - p.E515D 2.13 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03386 - - -
?/? 13 c.1545G>T - p.E515D 2.13 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03387 - - -
?/? 13 c.1546C>A - p.Q516K 1.85 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03388 - - -
?/? 13 c.1546C>G - p.Q516E 3.77 0.01 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03389 - - -
?/? 13 c.1547A>C - p.Q516P 7.96 0.03 0.0126 Thompson et al., 2013 DNA SEQ MLH1_03390 - - -
?/? 13 c.1547A>G - p.Q516R 2.44 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03391 - - -
?/? 13 c.1547A>T - p.Q516L 3.01 0.01 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03392 - - -
?/? 13 c.1548G>C - p.Q516H 2.52 0.076 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03393 - - -
?/? 13 c.1548G>T - p.Q516H 2.52 0.076 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03394 - - -
?/? 13 c.1549G>A - p.G517R 3.9 0.027 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03395 - - -
?/? 13 c.1549G>C - p.G517R 3.9 0.027 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03396 - - -
?/? 13 c.1550G>A - p.G517E 3.47 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03397 - - -
?/? 13 c.1550G>C - p.G517A 3.5 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03398 - - -
?/? 13 c.1550G>T - p.G517V 5.89 - 0.0056 Thompson et al., 2013 DNA SEQ MLH1_03399 - - -
?/? 13 c.1552C>A - p.H518N 5.41 0.119 0.0077 Thompson et al., 2013 DNA SEQ MLH1_03400 - - -
3301 - 3400
[<<] [<-] ... 29 30 31 32 33 34 35 36 37 38 39 ... [->] [>>]

Save Click here to save this list in a tab-delimited text file.

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.

  Powered by LOVD v.2.0 Build 33
Enabled modules: mutalyzer
©2004-2011 Leiden University Medical Center