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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.2006A>C - p.E669A 24.45 0.995 0.9085 Thompson et al., 2013 DNA SEQ MLH1_04401 - - -
?/? 18 c.2006A>G - p.E669G 28.23 0.996 0.9325 Thompson et al., 2013 DNA SEQ MLH1_04402 - - -
?/? 18 c.2006A>T - p.E669V 31.34 0.996 0.946 Thompson et al., 2013 DNA SEQ MLH1_04403 - - -
?/? 18 c.2007A>C - p.E669D 13.31 0.991 0.7105 Thompson et al., 2013 DNA SEQ MLH1_04404 - - -
?/? 18 c.2007A>T - p.E669D 13.31 0.991 0.7105 Thompson et al., 2013 DNA SEQ MLH1_04405 - - -
?/? 18 c.2008A>C - p.K670Q 6.51 0.175 0.0147 Thompson et al., 2013 DNA SEQ MLH1_04406 - - -
?/? 18 c.2008A>G - p.K670E 12.66 0.112 0.0492 Thompson et al., 2013 DNA SEQ MLH1_04407 - - -
?/? 18 c.2009A>C - p.K670T 17.65 0.714 0.5886 Thompson et al., 2013 DNA SEQ MLH1_04408 - - -
?/? 18 c.2009A>G - p.K670R 1.76 0.112 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04409 - - -
?/? 18 c.2009A>T - p.K670M 5.73 0.731 0.1069 Thompson et al., 2013 DNA SEQ MLH1_04410 - - -
?/? 18 c.2010G>C - p.K670N 12.14 0.714 0.3796 Thompson et al., 2013 DNA SEQ MLH1_04411 - - -
?/? 18 c.2010G>T - p.K670N 12.14 0.714 0.3796 Thompson et al., 2013 DNA SEQ MLH1_04412 - - -
?/? 18 c.2011G>A - p.E671K 5.71 0.018 0.0057 Thompson et al., 2013 DNA SEQ MLH1_04413 - - -
?/? 18 c.2011G>C - p.E671Q 3.74 0.443 0.0131 Thompson et al., 2013 DNA SEQ MLH1_04414 - - -
?/? 18 c.2012A>C - p.E671A 8.83 0.021 0.0153 Thompson et al., 2013 DNA SEQ MLH1_04415 - - -
?/? 18 c.2012A>G - p.E671G 6.6 0.228 0.019 Thompson et al., 2013 DNA SEQ MLH1_04416 - - -
?/? 18 c.2012A>T - p.E671V 13.2 0.303 0.1138 Thompson et al., 2013 DNA SEQ MLH1_04417 - - -
?/? 18 c.2013A>C - p.E671D 3.27 0.018 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04418 - - -
?/? 18 c.2013A>T - p.E671D 3.27 0.018 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04419 - - -
?/? 18 c.2014T>A - p.C672S 14.04 0.996 0.7389 Thompson et al., 2013 DNA SEQ MLH1_04420 - - -
?/? 18 c.2014T>C - p.C672R 34.86 0.997 0.9573 Thompson et al., 2013 DNA SEQ MLH1_04421 - - -
?/? 18 c.2014T>G - p.C672G 15.41 0.996 0.7776 Thompson et al., 2013 DNA SEQ MLH1_04422 - - -
?/? 18 c.2015G>A - p.C672Y 21.23 0.997 0.879 Thompson et al., 2013 DNA SEQ MLH1_04423 - - -
?/? 18 c.2015G>C - p.C672S 14.04 0.996 0.7389 Thompson et al., 2013 DNA SEQ MLH1_04424 - - -
?/? 18 c.2015G>T - p.C672F 21.32 0.997 0.88 Thompson et al., 2013 DNA SEQ MLH1_04425 - - -
?/? 18 c.2016T>G - p.C672W 32.95 0.999 0.9521 Thompson et al., 2013 DNA SEQ MLH1_04426 - - -
?/? 18 c.2017T>A - p.F673I 10.86 0.996 0.6123 Thompson et al., 2013 DNA SEQ MLH1_04427 - - -
?/? 18 c.2017T>C - p.F673L 12.82 0.991 0.6926 Thompson et al., 2013 DNA SEQ MLH1_04428 - - -
?/? 18 c.2017T>G - p.F673V 17.61 0.996 0.8255 Thompson et al., 2013 DNA SEQ MLH1_04429 - - -
?/? 18 c.2018T>A - p.F673Y 16.28 0.995 0.7977 Thompson et al., 2013 DNA SEQ MLH1_04430 - - -
?/? 18 c.2018T>C - p.F673S 19.43 0.996 0.8554 Thompson et al., 2013 DNA SEQ MLH1_04431 - - -
?/? 18 c.2018T>G - p.F673C 17.91 0.999 0.8328 Thompson et al., 2013 DNA SEQ MLH1_04432 - - -
?/? 18 c.2019T>A - p.F673L 12.82 0.991 0.6926 Thompson et al., 2013 DNA SEQ MLH1_04433 - - -
?/? 18 c.2019T>G - p.F673L 12.82 0.991 0.6926 Thompson et al., 2013 DNA SEQ MLH1_04434 - - -
?/? 18 c.2020G>A - p.E674K 2.77 0.005 0.001 Thompson et al., 2013 DNA SEQ MLH1_04435 - - -
?/? 18 c.2020G>C - p.E674Q 2.13 0.011 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04436 - - -
?/? 18 c.2021A>C - p.E674A 4.89 0.011 0.0039 Thompson et al., 2013 DNA SEQ MLH1_04437 - - -
?/? 18 c.2021A>G - p.E674G 4.59 0.046 0.0039 Thompson et al., 2013 DNA SEQ MLH1_04438 - - -
?/? 18 c.2021A>T - p.E674V 8.84 0.112 0.0224 Thompson et al., 2013 DNA SEQ MLH1_04439 - - -
?/? 18 c.2022A>C - p.E674D 2.62 0.002 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04440 - - -
?/? 18 c.2022A>T - p.E674D 2.62 0.002 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04441 - - -
?/? 18 c.2023A>C - p.S675R 6.51 0.188 0.0156 Thompson et al., 2013 DNA SEQ MLH1_04442 - - -
?/? 18 c.2023A>G - p.S675G 3.51 0.005 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04443 - - -
?/? 18 c.2023A>T - p.S675C 7.66 0.41 0.0556 Thompson et al., 2013 DNA SEQ MLH1_04444 - - -
?/? 18 c.2024G>A - p.S675N 3.9 0.011 0.0023 Thompson et al., 2013 DNA SEQ MLH1_04445 - - -
?/? 18 c.2024G>C - p.S675T 1.57 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04446 - - -
?/? 18 c.2024G>T - p.S675I 12.55 0.188 0.0656 Thompson et al., 2013 DNA SEQ MLH1_04447 - - -
?/? 18 c.2025C>A - p.S675R 6.51 0.188 0.0156 Thompson et al., 2013 DNA SEQ MLH1_04448 - - -
?/? 18 c.2025C>G - p.S675R 6.51 0.188 0.0156 Thompson et al., 2013 DNA SEQ MLH1_04449 - - -
?/? 18 c.2026C>A - p.L676I 4.21 0.006 0.0027 Thompson et al., 2013 DNA SEQ MLH1_04450 - - -
?/? 18 c.2026C>G - p.L676V 7.17 0.002 0.0088 Thompson et al., 2013 DNA SEQ MLH1_04451 - - -
?/? 18 c.2026C>T - p.L676F 2.19 0.002 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04452 - - -
?/? 18 c.2027T>A - p.L676H 14.56 0.41 0.202 Thompson et al., 2013 DNA SEQ MLH1_04453 - - -
?/? 18 c.2027T>C - p.L676P 14.6 0.345 0.1619 Thompson et al., 2013 DNA SEQ MLH1_04454 - - -
?/? 18 c.2027T>G - p.L676R 31.03 0.471 0.6465 Thompson et al., 2013 DNA SEQ MLH1_04455 - - -
?/? 18 c.2029A>C - p.S677R 36.95 0.691 0.8741 Thompson et al., 2013 DNA SEQ MLH1_04456 - - -
?/? 18 c.2029A>G - p.S677G 4.13 0.143 0.0046 Thompson et al., 2013 DNA SEQ MLH1_04457 - - -
?/? 18 c.2029A>T - p.S677C 3.52 0.006 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04458 - - -
?/? 18 c.2030G>A - p.S677N 12.71 0.691 0.381 Thompson et al., 2013 DNA SEQ MLH1_04459 - - -
?/? 18 c.2030G>C - p.S677T 4.63 0.217 0.0082 Thompson et al., 2013 DNA SEQ MLH1_04460 - - -
?/? 18 c.2030G>T - p.S677I 9.77 0.569 0.1677 Thompson et al., 2013 DNA SEQ MLH1_04461 - - -
?/? 18 c.2031T>A - p.S677R 36.95 0.691 0.8741 Thompson et al., 2013 DNA SEQ MLH1_04462 - - -
?/? 18 c.2031T>G - p.S677R 36.95 0.691 0.8741 Thompson et al., 2013 DNA SEQ MLH1_04463 - - -
?/? 18 c.2032A>C - p.K678Q 4.51 0.587 0.0363 Thompson et al., 2013 DNA SEQ MLH1_04464 - - -
?/? 18 c.2032A>G - p.K678E 10.68 0.318 0.0781 Thompson et al., 2013 DNA SEQ MLH1_04465 - - -
?/? 18 c.2033A>C - p.K678T 9.82 0.24 0.0478 Thompson et al., 2013 DNA SEQ MLH1_04466 - - -
?/? 18 c.2033A>G - p.K678R 1.78 0.013 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04467 - - -
?/? 18 c.2033A>T - p.K678I 4.7 0.067 0.0045 Thompson et al., 2013 DNA SEQ MLH1_04468 - - -
?/? 18 c.2034A>C - p.K678N 7.24 0.587 0.0992 Thompson et al., 2013 DNA SEQ MLH1_04469 - - -
?/? 18 c.2034A>T - p.K678N 7.24 0.587 0.0992 Thompson et al., 2013 DNA SEQ MLH1_04470 - - -
?/? 18 c.2035G>A - p.E679K 19.98 0.971 0.85 Thompson et al., 2013 DNA SEQ MLH1_04471 - - -
?/? 18 c.2035G>C - p.E679Q 13.2 0.987 0.703 Thompson et al., 2013 DNA SEQ MLH1_04472 - - -
?/? 18 c.2036A>C - p.E679A 24.45 0.948 0.8904 Thompson et al., 2013 DNA SEQ MLH1_04473 - - -
?/? 18 c.2036A>G - p.E679G 28.23 0.987 0.93 Thompson et al., 2013 DNA SEQ MLH1_04474 - - -
?/? 18 c.2036A>T - p.E679V 31.34 0.454 0.6351 Thompson et al., 2013 DNA SEQ MLH1_04475 - - -
?/? 18 c.2037A>C - p.E679D 13.31 0.969 0.6908 Thompson et al., 2013 DNA SEQ MLH1_04476 - - -
?/? 18 c.2037A>T - p.E679D 13.31 0.969 0.6908 Thompson et al., 2013 DNA SEQ MLH1_04477 - - -
?/? 18 c.2038T>A - p.C680S 6.14 0.167 0.0125 Thompson et al., 2013 DNA SEQ MLH1_04478 - - -
?/? 18 c.2038T>C - p.C680R 33.82 0.427 0.6484 Thompson et al., 2013 DNA SEQ MLH1_04479 - - -
?/? 18 c.2038T>G - p.C680G 7.65 0.474 0.0716 Thompson et al., 2013 DNA SEQ MLH1_04480 - - -
?/? 18 c.2039G>A - p.C680Y 8.4 0.553 0.1178 Thompson et al., 2013 DNA SEQ MLH1_04481 - - -
?/? 18 c.2039G>C - p.C680S 6.14 0.167 0.0125 Thompson et al., 2013 DNA SEQ MLH1_04482 - - -
?/? 18 c.2039G>T - p.C680F 6.17 0.427 0.0373 Thompson et al., 2013 DNA SEQ MLH1_04483 - - -
?/? 18 c.2040C>G - p.C680W 10.23 0.733 0.3103 Thompson et al., 2013 DNA SEQ MLH1_04484 - - -
?/? 18 c.2041G>A - p.A681T 8.22 0.198 0.0273 Thompson et al., 2013 DNA SEQ MLH1_04485 - - -
?/? 18 c.2041G>C - p.A681P 13.39 0.607 0.3264 Thompson et al., 2013 DNA SEQ MLH1_04486 - - -
?/? 18 c.2041G>T - p.A681S 2.64 0.008 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04487 - - -
?/? 18 c.2042C>A - p.A681D 37.97 0.53 0.7881 Thompson et al., 2013 DNA SEQ MLH1_04488 - - -
?/? 18 c.2042C>G - p.A681G 2.48 0.026 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04489 - - -
?/? 18 c.2042C>T - p.A681V 11.65 0.53 0.2028 Thompson et al., 2013 DNA SEQ MLH1_04490 - - -
?/? 18 c.2044A>C - p.M682L 1.61 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04491 - - -
?/? 18 c.2044A>G - p.M682V 6.05 - 0.006 Thompson et al., 2013 DNA SEQ MLH1_04492 - - -
?/? 18 c.2044A>T - p.M682L 1.61 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04493 - - -
?/? 18 c.2045T>A - p.M682K 2.01 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04494 - - -
?/? 18 c.2045T>C - p.M682T 5.07 0.006 0.0041 Thompson et al., 2013 DNA SEQ MLH1_04495 - - -
?/? 18 c.2045T>G - p.M682R 2.01 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04496 - - -
?/? 18 c.2046G>A - p.M682I 4.15 0.006 0.0026 Thompson et al., 2013 DNA SEQ MLH1_04497 - - -
?/? 18 c.2046G>C - p.M682I 4.15 0.006 0.0026 Thompson et al., 2013 DNA SEQ MLH1_04498 - - -
?/? 18 c.2046G>T - p.M682I 4.15 0.006 0.0026 Thompson et al., 2013 DNA SEQ MLH1_04499 - - -
?/? 18 c.2047T>A - p.F683I 10.86 0.987 0.6032 Thompson et al., 2013 DNA SEQ MLH1_04500 - - -
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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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