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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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?/? 12 c.1147A>C - p.M383L 4.42 0.009 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02501 - - -
?/? 12 c.1147A>G - p.M383V 25.53 0.204 0.2736 Thompson et al., 2013 DNA SEQ MLH1_02502 - - -
?/? 12 c.1147A>T - p.M383L 4.42 0.009 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02503 - - -
?/? 12 c.1148T>A - p.M383K 33.68 0.67 0.8372 Thompson et al., 2013 DNA SEQ MLH1_02504 - - -
?/? 12 c.1148T>C - p.M383T 20.8 0.093 0.1285 Thompson et al., 2013 DNA SEQ MLH1_02505 - - -
?/? 12 c.1148T>G - p.M383R 39.34 0.736 0.9065 Thompson et al., 2013 DNA SEQ MLH1_02506 - - -
?/? 12 c.1149G>A - p.M383I 16.3 0.09 0.0772 Thompson et al., 2013 DNA SEQ MLH1_02507 - - -
?/? 12 c.1149G>C - p.M383I 16.3 0.09 0.0772 Thompson et al., 2013 DNA SEQ MLH1_02508 - - -
?/? 12 c.1149G>T - p.M383I 16.3 0.09 0.0772 Thompson et al., 2013 DNA SEQ MLH1_02509 - - -
?/? 12 c.1150G>A - p.V384I 11.96 0.715 0.3726 Thompson et al., 2013 DNA SEQ MLH1_02510 - - -
?/? 12 c.1150G>C - p.V384L 20.81 0.92 0.8334 Thompson et al., 2013 DNA SEQ MLH1_02511 - - -
?/? 12 c.1150G>T - p.V384F 21.09 0.989 0.8737 Thompson et al., 2013 DNA SEQ MLH1_02512 - - -
?/? 12 c.1151T>A - p.V384D 33.13 0.994 0.9517 Thompson et al., 2013 DNA SEQ MLH1_02513 - - -
?/? 12 c.1151T>C - p.V384A 27.75 0.979 0.9251 Thompson et al., 2013 DNA SEQ MLH1_02514 - - -
?/? 12 c.1151T>G - p.V384G 23.22 0.992 0.8971 Thompson et al., 2013 DNA SEQ MLH1_02515 - - -
?/? 12 c.1153C>A - p.R385S 21.57 0.999 0.8837 Thompson et al., 2013 DNA SEQ MLH1_02516 - - -
?/? 12 c.1153C>G - p.R385G 25.9 0.999 0.92 Thompson et al., 2013 DNA SEQ MLH1_02517 - - -
?/? 12 c.1153C>T - p.R385C 29.01 1 0.9373 Thompson et al., 2013 DNA SEQ MLH1_02518 - - -
?/? 12 c.1154G>A - p.R385H 14.41 0.999 0.7525 Thompson et al., 2013 DNA SEQ MLH1_02519 - - -
?/? 12 c.1154G>C - p.R385P 40.7 0.999 0.9698 Thompson et al., 2013 DNA SEQ MLH1_02520 - - -
?/? 12 c.1154G>T - p.R385L 19.03 0.999 0.8511 Thompson et al., 2013 DNA SEQ MLH1_02521 - - -
?/? 12 c.1156A>C - p.T386P 16.94 0.999 0.8144 Thompson et al., 2013 DNA SEQ MLH1_02522 - - -
?/? 12 c.1156A>G - p.T386A 13.22 0.999 0.7143 Thompson et al., 2013 DNA SEQ MLH1_02523 - - -
?/? 12 c.1156A>T - p.T386S 3.61 0.999 0.1161 Thompson et al., 2013 DNA SEQ MLH1_02524 - - -
?/? 12 c.1157C>A - p.T386K 8.35 0.999 0.4684 Thompson et al., 2013 DNA SEQ MLH1_02525 - - -
?/? 12 c.1157C>G - p.T386R 8.15 0.999 0.4547 Thompson et al., 2013 DNA SEQ MLH1_02526 - - -
?/? 12 c.1157C>T - p.T386I 9.95 0.999 0.5674 Thompson et al., 2013 DNA SEQ MLH1_02527 - - -
?/? 12 c.1159G>A - p.D387N 13.97 0.977 0.7207 Thompson et al., 2013 DNA SEQ MLH1_02528 - - -
?/? 12 c.1159G>C - p.D387H 20.32 0.989 0.8641 Thompson et al., 2013 DNA SEQ MLH1_02529 - - -
?/? 12 c.1159G>T - p.D387Y 21.06 0.989 0.8733 Thompson et al., 2013 DNA SEQ MLH1_02530 - - -
?/? 12 c.1160A>C - p.D387A 29.51 0.969 0.9316 Thompson et al., 2013 DNA SEQ MLH1_02531 - - -
?/? 12 c.1160A>G - p.D387G 20.85 0.981 0.8669 Thompson et al., 2013 DNA SEQ MLH1_02532 - - -
?/? 12 c.1160A>T - p.D387V 22.25 0.983 0.8839 Thompson et al., 2013 DNA SEQ MLH1_02533 - - -
?/? 12 c.1161T>A - p.D387E 23.98 0.944 0.8843 Thompson et al., 2013 DNA SEQ MLH1_02534 - - -
?/? 12 c.1161T>G - p.D387E 23.98 0.944 0.8843 Thompson et al., 2013 DNA SEQ MLH1_02535 - - -
?/? 12 c.1162T>A - p.S388T 8.03 0.179 0.0239 Thompson et al., 2013 DNA SEQ MLH1_02536 - - -
?/? 12 c.1162T>C - p.S388P 16.84 0.606 0.4481 Thompson et al., 2013 DNA SEQ MLH1_02537 - - -
?/? 12 c.1162T>G - p.S388A 8.63 0.031 0.0151 Thompson et al., 2013 DNA SEQ MLH1_02538 - - -
?/? 12 c.1163C>A - p.S388Y 12.33 0.354 0.1203 Thompson et al., 2013 DNA SEQ MLH1_02539 - - -
?/? 12 c.1163C>G - p.S388C 8.67 0.016 0.0144 Thompson et al., 2013 DNA SEQ MLH1_02540 - - -
?/? 12 c.1163C>T - p.S388F 7.83 0.476 0.0758 Thompson et al., 2013 DNA SEQ MLH1_02541 - - -
?/? 12 c.1165C>G - p.R389G 23.39 0.271 0.2912 Thompson et al., 2013 DNA SEQ MLH1_02542 - - -
?/? 12 c.1165C>T - p.R389W 19 0.793 0.7031 Thompson et al., 2013 DNA SEQ MLH1_02543 - - -
?/? 12 c.1166G>A - p.R389Q 10.67 0.137 0.0376 Thompson et al., 2013 DNA SEQ MLH1_02544 - - -
?/? 12 c.1166G>C - p.R389P 27.37 0.37 0.4722 Thompson et al., 2013 DNA SEQ MLH1_02545 - - -
?/? 12 c.1166G>T - p.R389L 20.67 0.014 0.094 Thompson et al., 2013 DNA SEQ MLH1_02546 - - -
?/? 12 c.1168G>A - p.E390K 4.42 0.068 0.0039 Thompson et al., 2013 DNA SEQ MLH1_02547 - - -
?/? 12 c.1168G>C - p.E390Q 2.7 0.166 0.0019 Thompson et al., 2013 DNA SEQ MLH1_02548 - - -
?/? 12 c.1169A>C - p.E390A 4.19 0.005 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02549 - - -
?/? 12 c.1169A>G - p.E390G 4.97 0.068 0.0051 Thompson et al., 2013 DNA SEQ MLH1_02550 - - -
?/? 12 c.1169A>T - p.E390V 5.36 0.047 0.0055 Thompson et al., 2013 DNA SEQ MLH1_02551 - - -
?/? 12 c.1170A>C - p.E390D 1.85 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02552 - - -
?/? 12 c.1170A>T - p.E390D 1.85 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02553 - - -
?/? 12 c.1171C>A - p.Q391K 27.25 0.944 0.9108 Thompson et al., 2013 DNA SEQ MLH1_02554 - - -
?/? 12 c.1171C>G - p.Q391E 26.89 0.966 0.9159 Thompson et al., 2013 DNA SEQ MLH1_02555 - - -
?/? 12 c.1172A>C - p.Q391P 39.94 0.992 0.9676 Thompson et al., 2013 DNA SEQ MLH1_02556 - - -
?/? 12 c.1172A>G - p.Q391R 33.7 0.722 0.8653 Thompson et al., 2013 DNA SEQ MLH1_02557 - - -
?/? 12 c.1172A>T - p.Q391L 19.88 0.986 0.8566 Thompson et al., 2013 DNA SEQ MLH1_02558 - - -
?/? 12 c.1173G>C - p.Q391H 14.36 0.994 0.747 Thompson et al., 2013 DNA SEQ MLH1_02559 - - -
?/? 12 c.1173G>T - p.Q391H 14.36 0.994 0.747 Thompson et al., 2013 DNA SEQ MLH1_02560 - - -
?/? 12 c.1174A>C - p.K392Q 3.83 0.972 0.1181 Thompson et al., 2013 DNA SEQ MLH1_02561 - - -
?/? 12 c.1174A>G - p.K392E 8.56 0.962 0.4433 Thompson et al., 2013 DNA SEQ MLH1_02562 - - -
?/? 12 c.1175A>C - p.K392T 7.64 0.387 0.0504 Thompson et al., 2013 DNA SEQ MLH1_02563 - - -
?/? 12 c.1175A>G - p.K392R 2.07 0.977 0.0327 Thompson et al., 2013 DNA SEQ MLH1_02564 - - -
?/? 12 c.1175A>T - p.K392M 5.92 0.965 0.2588 Thompson et al., 2013 DNA SEQ MLH1_02565 - - -
?/? 12 c.1176G>C - p.K392N 4.19 0.972 0.141 Thompson et al., 2013 DNA SEQ MLH1_02566 - - -
?/? 12 c.1176G>T - p.K392N 4.19 0.972 0.141 Thompson et al., 2013 DNA SEQ MLH1_02567 - - -
?/? 12 c.1177C>A - p.L393I 5.83 0.335 0.0225 Thompson et al., 2013 DNA SEQ MLH1_02568 - - -
?/? 12 c.1177C>G - p.L393V 14.64 0.6 0.3654 Thompson et al., 2013 DNA SEQ MLH1_02569 - - -
?/? 12 c.1177C>T - p.L393F 9.6 0.892 0.4339 Thompson et al., 2013 DNA SEQ MLH1_02570 - - -
?/? 12 c.1178T>A - p.L393H 21.39 0.989 0.8772 Thompson et al., 2013 DNA SEQ MLH1_02571 - - -
?/? 12 c.1178T>C - p.L393P 35.74 0.947 0.9504 Thompson et al., 2013 DNA SEQ MLH1_02572 - - -
?/? 12 c.1178T>G - p.L393R 34.87 0.968 0.9519 Thompson et al., 2013 DNA SEQ MLH1_02573 - - -
?/? 12 c.1180G>A - p.D394N 3.41 0.86 0.06 Thompson et al., 2013 DNA SEQ MLH1_02574 - - -
?/? 12 c.1180G>C - p.D394H 4.55 0.211 0.0077 Thompson et al., 2013 DNA SEQ MLH1_02575 - - -
?/? 12 c.1180G>T - p.D394Y 8.03 0.87 0.3176 Thompson et al., 2013 DNA SEQ MLH1_02576 - - -
?/? 12 c.1181A>C - p.D394A 21.14 0.86 0.8006 Thompson et al., 2013 DNA SEQ MLH1_02577 - - -
?/? 12 c.1181A>G - p.D394G 10.89 0.86 0.471 Thompson et al., 2013 DNA SEQ MLH1_02578 - - -
?/? 12 c.1181A>T - p.D394V 31.2 0.835 0.8972 Thompson et al., 2013 DNA SEQ MLH1_02579 - - -
?/? 12 c.1182T>A - p.D394E 3.22 0.047 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02580 - - -
?/? 12 c.1182T>G - p.D394E 3.22 0.047 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02581 - - -
?/? 12 c.1183G>A - p.A395T 6.8 0.068 0.0104 Thompson et al., 2013 DNA SEQ MLH1_02582 - - -
?/? 12 c.1183G>C - p.A395P 11.4 0.746 0.3781 Thompson et al., 2013 DNA SEQ MLH1_02583 - - -
?/? 12 c.1183G>T - p.A395S 5.45 0.068 0.0063 Thompson et al., 2013 DNA SEQ MLH1_02584 - - -
?/? 12 c.1184C>A - p.A395E 33.65 0.492 0.7063 Thompson et al., 2013 DNA SEQ MLH1_02585 - - -
?/? 12 c.1184C>G - p.A395G 5.76 0.521 0.0472 Thompson et al., 2013 DNA SEQ MLH1_02586 - - -
?/? 12 c.1184C>T - p.A395V 5.38 0.307 0.0167 Thompson et al., 2013 DNA SEQ MLH1_02587 - - -
?/? 12 c.1186T>A - p.F396I 10.86 0.992 0.6083 Thompson et al., 2013 DNA SEQ MLH1_02588 - - -
?/? 12 c.1186T>C - p.F396L 12.82 0.979 0.6816 Thompson et al., 2013 DNA SEQ MLH1_02589 - - -
?/? 12 c.1186T>G - p.F396V 17.61 0.992 0.8231 Thompson et al., 2013 DNA SEQ MLH1_02590 - - -
?/? 12 c.1187T>A - p.F396Y 16.28 0.989 0.7935 Thompson et al., 2013 DNA SEQ MLH1_02591 - - -
?/? 12 c.1187T>C - p.F396S 19.43 0.977 0.8451 Thompson et al., 2013 DNA SEQ MLH1_02592 - - -
?/? 12 c.1187T>G - p.F396C 17.91 0.998 0.8322 Thompson et al., 2013 DNA SEQ MLH1_02593 - - -
?/? 12 c.1188T>A - p.F396L 12.82 0.979 0.6816 Thompson et al., 2013 DNA SEQ MLH1_02594 - - -
?/? 12 c.1188T>G - p.F396L 12.82 0.979 0.6816 Thompson et al., 2013 DNA SEQ MLH1_02595 - - -
?/? 12 c.1189C>A - p.L397M 10.18 0.035 0.0222 Thompson et al., 2013 DNA SEQ MLH1_02596 - - -
?/? 12 c.1189C>G - p.L397V 14.1 0.069 0.0522 Thompson et al., 2013 DNA SEQ MLH1_02597 - - -
?/? 12 c.1190T>A - p.L397Q 18.56 0.601 0.4977 Thompson et al., 2013 DNA SEQ MLH1_02598 - - -
?/? 12 c.1190T>C - p.L397P 35.69 0.601 0.8138 Thompson et al., 2013 DNA SEQ MLH1_02599 - - -
?/? 12 c.1190T>G - p.L397R 34.98 0.659 0.8425 Thompson et al., 2013 DNA SEQ MLH1_02600 - - -
2501 - 2600
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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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