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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.1552C>G - p.H518D 18.78 0.119 0.1155 Thompson et al., 2013 DNA SEQ MLH1_03401 - - -
?/? 13 c.1552C>T - p.H518Y 7.16 0.889 0.28 Thompson et al., 2013 DNA SEQ MLH1_03402 - - -
?/? 13 c.1553A>C - p.H518P 28.33 0.916 0.9083 Thompson et al., 2013 DNA SEQ MLH1_03403 - - -
?/? 13 c.1553A>G - p.H518R 17.87 0.889 0.7562 Thompson et al., 2013 DNA SEQ MLH1_03404 - - -
?/? 13 c.1553A>T - p.H518L 28.52 0.825 0.8722 Thompson et al., 2013 DNA SEQ MLH1_03405 - - -
?/? 13 c.1554T>A - p.H518Q 6.24 0.889 0.2216 Thompson et al., 2013 DNA SEQ MLH1_03406 - - -
?/? 13 c.1554T>G - p.H518Q 6.24 0.889 0.2216 Thompson et al., 2013 DNA SEQ MLH1_03407 - - -
?/? 13 c.1555G>A - p.E519K 1.87 0.005 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03408 - - -
?/? 13 c.1555G>C - p.E519Q 1.96 0.032 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03409 - - -
?/? 13 c.1556A>C - p.E519A 6.45 0.011 0.0072 Thompson et al., 2013 DNA SEQ MLH1_03410 - - -
?/? 13 c.1556A>G - p.E519G 4.68 0.079 0.0047 Thompson et al., 2013 DNA SEQ MLH1_03411 - - -
?/? 13 c.1556A>T - p.E519V 8.57 0.009 0.0136 Thompson et al., 2013 DNA SEQ MLH1_03412 - - -
?/? 13 c.1557G>C - p.E519D 2.38 0.079 0.001 Thompson et al., 2013 DNA SEQ MLH1_03413 - - -
?/? 13 c.1557G>T - p.E519D 2.38 0.079 0.001 Thompson et al., 2013 DNA SEQ MLH1_03414 - - -
?/? 13 c.1558G>A - p.V520I 4.19 0.01 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03415 - - -
?/? 13 c.1558G>C - p.V520L 4.77 0.006 0.0036 Thompson et al., 2013 DNA SEQ MLH1_03416 - - -
?/? 13 c.1558G>T - p.V520F 4.32 0.018 0.003 Thompson et al., 2013 DNA SEQ MLH1_03417 - - -
?/? 14 c.1559T>A - p.V520D 3.16 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03418 - - -
?/? 14 c.1559T>C - p.V520A 4.45 0.001 0.003 Thompson et al., 2013 DNA SEQ MLH1_03419 - - -
?/? 14 c.1559T>G - p.V520G 1.58 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03420 - - -
?/? 14 c.1561C>A - p.L521I 15.46 0.917 0.7155 Thompson et al., 2013 DNA SEQ MLH1_03421 - - -
?/? 14 c.1561C>G - p.L521V 25.8 0.454 0.5281 Thompson et al., 2013 DNA SEQ MLH1_03422 - - -
?/? 14 c.1561C>T - p.L521F 12.59 0.973 0.667 Thompson et al., 2013 DNA SEQ MLH1_03423 - - -
?/? 14 c.1562T>A - p.L521H 20.32 0.997 0.868 Thompson et al., 2013 DNA SEQ MLH1_03424 - - -
?/? 14 c.1562T>C - p.L521P 36.32 0.984 0.9588 Thompson et al., 2013 DNA SEQ MLH1_03425 - - -
?/? 14 c.1562T>G - p.L521R 33.02 0.99 0.9505 Thompson et al., 2013 DNA SEQ MLH1_03426 - - -
?/? 14 c.1564C>G - p.R522G 5.58 0.362 0.0229 Thompson et al., 2013 DNA SEQ MLH1_03427 - - -
?/? 14 c.1564C>T - p.R522W 4.87 0.788 0.0954 Thompson et al., 2013 DNA SEQ MLH1_03428 - - -
?/? 14 c.1565G>A - p.R522Q 2.45 0.02 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03429 - - -
?/? 14 c.1565G>C - p.R522P 11.6 0.633 0.281 Thompson et al., 2013 DNA SEQ MLH1_03430 - - -
?/? 14 c.1565G>T - p.R522L 3.73 0.362 0.0093 Thompson et al., 2013 DNA SEQ MLH1_03431 - - -
?/? 14 c.1567G>A - p.E523K 5.71 0.046 0.0064 Thompson et al., 2013 DNA SEQ MLH1_03432 - - -
?/? 14 c.1567G>C - p.E523Q 3.49 0.032 0.002 Thompson et al., 2013 DNA SEQ MLH1_03433 - - -
?/? 14 c.1568A>C - p.E523A 5.66 0.018 0.0055 Thompson et al., 2013 DNA SEQ MLH1_03434 - - -
?/? 14 c.1568A>G - p.E523G 6.56 0.005 0.0073 Thompson et al., 2013 DNA SEQ MLH1_03435 - - -
?/? 14 c.1568A>T - p.E523V 5.49 0.079 0.0067 Thompson et al., 2013 DNA SEQ MLH1_03436 - - -
?/? 14 c.1569G>C - p.E523D 1.99 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03437 - - -
?/? 14 c.1569G>T - p.E523D 1.99 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03438 - - -
?/? 14 c.1570A>C - p.M524L 2.77 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_03439 - - -
?/? 14 c.1570A>G - p.M524V 6.88 0.002 0.0081 Thompson et al., 2013 DNA SEQ MLH1_03440 - - -
?/? 14 c.1570A>T - p.M524L 2.77 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_03441 - - -
?/? 14 c.1571T>A - p.M524K 31.66 0.066 0.2543 Thompson et al., 2013 DNA SEQ MLH1_03442 - - -
?/? 14 c.1571T>C - p.M524T 9.52 0.003 0.0168 Thompson et al., 2013 DNA SEQ MLH1_03443 - - -
?/? 14 c.1571T>G - p.M524R 38.58 0.177 0.4615 Thompson et al., 2013 DNA SEQ MLH1_03444 - - -
?/? 14 c.1572G>A - p.M524I 3.33 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_03445 - - -
?/? 14 c.1572G>C - p.M524I 3.33 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_03446 - - -
?/? 14 c.1572G>T - p.M524I 3.33 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_03447 - - -
?/? 14 c.1573T>A - p.L525M 6.32 0.746 0.1374 Thompson et al., 2013 DNA SEQ MLH1_03448 - - -
?/? 14 c.1573T>G - p.L525V 7.86 0.023 0.0119 Thompson et al., 2013 DNA SEQ MLH1_03449 - - -
?/? 14 c.1574T>C - p.L525S 10.82 0.768 0.3723 Thompson et al., 2013 DNA SEQ MLH1_03450 - - -
?/? 14 c.1574T>G - p.L525W 10.47 0.878 0.4679 Thompson et al., 2013 DNA SEQ MLH1_03451 - - -
?/? 14 c.1575G>C - p.L525F 4.61 0.053 0.004 Thompson et al., 2013 DNA SEQ MLH1_03452 - - -
?/? 14 c.1575G>T - p.L525F 4.61 0.053 0.004 Thompson et al., 2013 DNA SEQ MLH1_03453 - - -
?/? 14 c.1576C>A - p.H526N 3.06 0.016 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03454 - - -
?/? 14 c.1576C>G - p.H526D 4.13 0.009 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03455 - - -
?/? 14 c.1576C>T - p.H526Y 4.88 0.026 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03456 - - -
?/? 14 c.1577A>C - p.H526P 8.23 0.026 0.0133 Thompson et al., 2013 DNA SEQ MLH1_03457 - - -
?/? 14 c.1577A>G - p.H526R 2.14 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03458 - - -
?/? 14 c.1577A>T - p.H526L 3.51 0.001 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03459 - - -
?/? 14 c.1578T>A - p.H526Q 1.98 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03460 - - -
?/? 14 c.1578T>G - p.H526Q 1.98 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03461 - - -
?/? 14 c.1579A>C - p.N527H 4.16 0.33 0.0104 Thompson et al., 2013 DNA SEQ MLH1_03462 - - -
?/? 14 c.1579A>G - p.N527D 3.5 0.002 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03463 - - -
?/? 14 c.1579A>T - p.N527Y 9.4 0.454 0.1016 Thompson et al., 2013 DNA SEQ MLH1_03464 - - -
?/? 14 c.1580A>C - p.N527T 9.12 0.105 0.0233 Thompson et al., 2013 DNA SEQ MLH1_03465 - - -
?/? 14 c.1580A>G - p.N527S 9.17 0.043 0.0182 Thompson et al., 2013 DNA SEQ MLH1_03466 - - -
?/? 14 c.1580A>T - p.N527I 34.06 0.33 0.5535 Thompson et al., 2013 DNA SEQ MLH1_03467 - - -
?/? 14 c.1581C>A - p.N527K 4.12 0.074 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03468 - - -
?/? 14 c.1581C>G - p.N527K 4.12 0.074 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03469 - - -
?/? 14 c.1582C>A - p.H528N 9.68 0.146 0.0315 Thompson et al., 2013 DNA SEQ MLH1_03470 - - -
?/? 14 c.1582C>G - p.H528D 14 0.239 0.1005 Thompson et al., 2013 DNA SEQ MLH1_03471 - - -
?/? 14 c.1582C>T - p.H528Y 10.44 0.239 0.0543 Thompson et al., 2013 DNA SEQ MLH1_03472 - - -
?/? 14 c.1583A>C - p.H528P 17.82 0.301 0.2011 Thompson et al., 2013 DNA SEQ MLH1_03473 - - -
?/? 14 c.1583A>G - p.H528R 10.8 0.239 0.0584 Thompson et al., 2013 DNA SEQ MLH1_03474 - - -
?/? 14 c.1583A>T - p.H528L 5.1 0.004 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03475 - - -
?/? 14 c.1584C>A - p.H528Q 6.42 0.301 0.0242 Thompson et al., 2013 DNA SEQ MLH1_03476 - - -
?/? 14 c.1584C>G - p.H528Q 6.42 0.301 0.0242 Thompson et al., 2013 DNA SEQ MLH1_03477 - - -
?/? 14 c.1585T>A - p.S529T 2.5 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03478 - - -
?/? 14 c.1585T>C - p.S529P 11.16 0.066 0.031 Thompson et al., 2013 DNA SEQ MLH1_03479 - - -
?/? 14 c.1585T>G - p.S529A 7.82 0.026 0.0119 Thompson et al., 2013 DNA SEQ MLH1_03480 - - -
?/? 14 c.1586C>A - p.S529Y 4.11 0.115 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03481 - - -
?/? 14 c.1586C>G - p.S529C 5.14 0.19 0.0092 Thompson et al., 2013 DNA SEQ MLH1_03482 - - -
?/? 14 c.1586C>T - p.S529F 5.08 0.115 0.0066 Thompson et al., 2013 DNA SEQ MLH1_03483 - - -
?/? 14 c.1588T>A - p.F530I 10.86 0.975 0.5909 Thompson et al., 2013 DNA SEQ MLH1_03484 - - -
?/? 14 c.1588T>C - p.F530L 12.82 0.939 0.6436 Thompson et al., 2013 DNA SEQ MLH1_03485 - - -
?/? 14 c.1588T>G - p.F530V 17.61 0.909 0.7656 Thompson et al., 2013 DNA SEQ MLH1_03486 - - -
?/? 14 c.1589T>A - p.F530Y 16.28 0.292 0.1648 Thompson et al., 2013 DNA SEQ MLH1_03487 - - -
?/? 14 c.1589T>C - p.F530S 19.43 0.975 0.844 Thompson et al., 2013 DNA SEQ MLH1_03488 - - -
?/? 14 c.1589T>G - p.F530C 17.91 0.981 0.8218 Thompson et al., 2013 DNA SEQ MLH1_03489 - - -
?/? 14 c.1590C>A - p.F530L 12.82 0.939 0.6436 Thompson et al., 2013 DNA SEQ MLH1_03490 - - -
?/? 14 c.1590C>G - p.F530L 12.82 0.939 0.6436 Thompson et al., 2013 DNA SEQ MLH1_03491 - - -
?/? 14 c.1591G>A - p.V531M 24.43 0.996 0.9087 Thompson et al., 2013 DNA SEQ MLH1_03492 - - -
?/? 14 c.1591G>C - p.V531L 20.81 0.986 0.8688 Thompson et al., 2013 DNA SEQ MLH1_03493 - - -
?/? 14 c.1591G>T - p.V531L 20.81 0.986 0.8688 Thompson et al., 2013 DNA SEQ MLH1_03494 - - -
?/? 14 c.1592T>A - p.V531E 32.45 0.996 0.9499 Thompson et al., 2013 DNA SEQ MLH1_03495 - - -
?/? 14 c.1592T>C - p.V531A 27.75 0.986 0.9272 Thompson et al., 2013 DNA SEQ MLH1_03496 - - -
?/? 14 c.1592T>G - p.V531G 23.22 0.995 0.8982 Thompson et al., 2013 DNA SEQ MLH1_03497 - - -
?/? 14 c.1594G>A - p.G532S 7.5 0.998 0.4074 Thompson et al., 2013 DNA SEQ MLH1_03498 - - -
?/? 14 c.1594G>C - p.G532R 36.52 0.998 0.9615 Thompson et al., 2013 DNA SEQ MLH1_03499 - - -
?/? 14 c.1594G>T - p.G532C 19.13 0.999 0.8526 Thompson et al., 2013 DNA SEQ MLH1_03500 - - -
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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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