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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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?/? 14 c.1595G>A - p.G532D 35.86 0.998 0.96 Thompson et al., 2013 DNA SEQ MLH1_03501 - - -
?/? 14 c.1595G>C - p.G532A 22.05 0.997 0.8879 Thompson et al., 2013 DNA SEQ MLH1_03502 - - -
?/? 14 c.1595G>T - p.G532V 29.36 0.998 0.9384 Thompson et al., 2013 DNA SEQ MLH1_03503 - - -
?/? 14 c.1597T>A - p.C533S 3.13 0.068 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03504 - - -
?/? 14 c.1597T>C - p.C533R 37.37 0.842 0.9313 Thompson et al., 2013 DNA SEQ MLH1_03505 - - -
?/? 14 c.1597T>G - p.C533G 8.33 0.64 0.1596 Thompson et al., 2013 DNA SEQ MLH1_03506 - - -
?/? 14 c.1598G>A - p.C533Y 12.15 0.842 0.514 Thompson et al., 2013 DNA SEQ MLH1_03507 - - -
?/? 14 c.1598G>C - p.C533S 3.13 0.068 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03508 - - -
?/? 14 c.1598G>T - p.C533F 15.13 0.842 0.635 Thompson et al., 2013 DNA SEQ MLH1_03509 - - -
?/? 14 c.1599T>G - p.C533W 19.85 0.962 0.8431 Thompson et al., 2013 DNA SEQ MLH1_03510 - - -
?/? 14 c.1600G>A - p.V534M 24.43 0.922 0.8789 Thompson et al., 2013 DNA SEQ MLH1_03511 - - -
?/? 14 c.1600G>C - p.V534L 20.81 0.357 0.3124 Thompson et al., 2013 DNA SEQ MLH1_03512 - - -
?/? 14 c.1600G>T - p.V534L 20.81 0.357 0.3124 Thompson et al., 2013 DNA SEQ MLH1_03513 - - -
?/? 14 c.1601T>A - p.V534E 32.45 0.938 0.9367 Thompson et al., 2013 DNA SEQ MLH1_03514 - - -
?/? 14 c.1601T>C - p.V534A 27.75 0.78 0.8411 Thompson et al., 2013 DNA SEQ MLH1_03515 - - -
?/? 14 c.1601T>G - p.V534G 23.22 0.938 0.8738 Thompson et al., 2013 DNA SEQ MLH1_03516 - - -
?/? 14 c.1603A>C - p.N535H 3.55 0.241 0.005 Thompson et al., 2013 DNA SEQ MLH1_03517 - - -
?/? 14 c.1603A>G - p.N535D 1.96 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03518 - - -
?/? 14 c.1603A>T - p.N535Y 6.02 0.241 0.0163 Thompson et al., 2013 DNA SEQ MLH1_03519 - - -
?/? 14 c.1604A>C - p.N535T 2.59 0.002 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03520 - - -
?/? 14 c.1604A>G - p.N535S 2.65 0.002 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03521 - - -
?/? 14 c.1604A>T - p.N535I 8.97 0.173 0.0298 Thompson et al., 2013 DNA SEQ MLH1_03522 - - -
?/? 14 c.1605T>A - p.N535K 4.74 0.003 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03523 - - -
?/? 14 c.1605T>G - p.N535K 4.74 0.003 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03524 - - -
?/? 14 c.1606C>A - p.P536T 8.42 0.348 0.0531 Thompson et al., 2013 DNA SEQ MLH1_03525 - - -
?/? 14 c.1606C>G - p.P536A 5.93 0.027 0.0064 Thompson et al., 2013 DNA SEQ MLH1_03526 - - -
?/? 14 c.1606C>T - p.P536S 7.99 0.179 0.0237 Thompson et al., 2013 DNA SEQ MLH1_03527 - - -
?/? 14 c.1607C>A - p.P536H 12.36 0.516 0.2152 Thompson et al., 2013 DNA SEQ MLH1_03528 - - -
?/? 14 c.1607C>G - p.P536R 35.3 0.494 0.73 Thompson et al., 2013 DNA SEQ MLH1_03529 - - -
?/? 14 c.1607C>T - p.P536L 7.73 0.024 0.0115 Thompson et al., 2013 DNA SEQ MLH1_03530 - - -
?/? 14 c.1609C>A - p.Q537K 3.91 0.007 0.0023 Thompson et al., 2013 DNA SEQ MLH1_03531 - - -
?/? 14 c.1609C>G - p.Q537E 2.97 0.007 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03532 - - -
?/? 14 c.1610A>C - p.Q537P 7.58 0.212 0.0242 Thompson et al., 2013 DNA SEQ MLH1_03533 - - -
?/? 14 c.1610A>G - p.Q537R 4.5 0.038 0.0036 Thompson et al., 2013 DNA SEQ MLH1_03534 - - -
?/? 14 c.1610A>T - p.Q537L 7.92 0.146 0.0202 Thompson et al., 2013 DNA SEQ MLH1_03535 - - -
?/? 14 c.1611G>C - p.Q537H 2.48 0.404 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03536 - - -
?/? 14 c.1611G>T - p.Q537H 2.48 0.404 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03537 - - -
?/? 14 c.1612T>A - p.W538R 4.66 0.013 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03538 - - -
?/? 14 c.1612T>C - p.W538R 4.66 0.013 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03539 - - -
?/? 14 c.1612T>G - p.W538G 6.41 0.146 0.0126 Thompson et al., 2013 DNA SEQ MLH1_03540 - - -
?/? 14 c.1613G>C - p.W538S 4.12 0.007 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03541 - - -
?/? 14 c.1613G>T - p.W538L 4 0.007 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03542 - - -
?/? 14 c.1614G>C - p.W538C 5.63 0.472 0.0367 Thompson et al., 2013 DNA SEQ MLH1_03543 - - -
?/? 14 c.1614G>T - p.W538C 5.63 0.472 0.0367 Thompson et al., 2013 DNA SEQ MLH1_03544 - - -
?/? 14 c.1615G>A - p.A539T 10.48 0.138 0.0363 Thompson et al., 2013 DNA SEQ MLH1_03545 - - -
?/? 14 c.1615G>C - p.A539P 14.36 0.843 0.6081 Thompson et al., 2013 DNA SEQ MLH1_03546 - - -
?/? 14 c.1615G>T - p.A539S 8.06 0.591 0.1251 Thompson et al., 2013 DNA SEQ MLH1_03547 - - -
?/? 14 c.1616C>A - p.A539D 44.86 0.899 0.9632 Thompson et al., 2013 DNA SEQ MLH1_03548 - - -
?/? 14 c.1616C>G - p.A539G 8.4 0.867 0.3373 Thompson et al., 2013 DNA SEQ MLH1_03549 - - -
?/? 14 c.1616C>T - p.A539V 9.7 0.726 0.279 Thompson et al., 2013 DNA SEQ MLH1_03550 - - -
?/? 14 c.1618T>A - p.L540M 10.65 0.99 0.5956 Thompson et al., 2013 DNA SEQ MLH1_03551 - - -
?/? 14 c.1618T>G - p.L540V 25.8 0.917 0.8894 Thompson et al., 2013 DNA SEQ MLH1_03552 - - -
?/? 14 c.1619T>C - p.L540S 22.76 0.965 0.8813 Thompson et al., 2013 DNA SEQ MLH1_03553 - - -
?/? 14 c.1619T>G - p.L540W 22.06 0.998 0.8884 Thompson et al., 2013 DNA SEQ MLH1_03554 - - -
?/? 14 c.1620G>C - p.L540F 12.59 0.99 0.6829 Thompson et al., 2013 DNA SEQ MLH1_03555 - - -
?/? 14 c.1620G>T - p.L540F 12.59 0.99 0.6829 Thompson et al., 2013 DNA SEQ MLH1_03556 - - -
?/? 14 c.1621G>A - p.A541T 6.79 0.019 0.0084 Thompson et al., 2013 DNA SEQ MLH1_03557 - - -
?/? 14 c.1621G>C - p.A541P 14.68 0.188 0.0911 Thompson et al., 2013 DNA SEQ MLH1_03558 - - -
?/? 14 c.1621G>T - p.A541S 6.3 0.079 0.0091 Thompson et al., 2013 DNA SEQ MLH1_03559 - - -
?/? 14 c.1622C>A - p.A541E 31.99 0.112 0.2981 Thompson et al., 2013 DNA SEQ MLH1_03560 - - -
?/? 14 c.1622C>G - p.A541G 7.28 0.124 0.0153 Thompson et al., 2013 DNA SEQ MLH1_03561 - - -
?/? 14 c.1622C>T - p.A541V 2.39 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03562 - - -
?/? 14 c.1624C>A - p.Q542K 27.25 0.993 0.9264 Thompson et al., 2013 DNA SEQ MLH1_03563 - - -
?/? 14 c.1624C>G - p.Q542E 26.89 0.986 0.9222 Thompson et al., 2013 DNA SEQ MLH1_03564 - - -
?/? 14 c.1625A>C - p.Q542P 39.94 0.995 0.968 Thompson et al., 2013 DNA SEQ MLH1_03565 - - -
?/? 14 c.1625A>G - p.Q542R 33.7 0.993 0.9532 Thompson et al., 2013 DNA SEQ MLH1_03566 - - -
?/? 14 c.1625A>T - p.Q542L 19.88 0.995 0.8612 Thompson et al., 2013 DNA SEQ MLH1_03567 - - -
?/? 14 c.1626G>C - p.Q542H 14.36 0.996 0.7486 Thompson et al., 2013 DNA SEQ MLH1_03568 - - -
?/? 14 c.1626G>T - p.Q542H 14.36 0.996 0.7486 Thompson et al., 2013 DNA SEQ MLH1_03569 - - -
?/? 14 c.1627C>A - p.H543N 5.41 0.81 0.1282 Thompson et al., 2013 DNA SEQ MLH1_03570 - - -
?/? 14 c.1627C>G - p.H543D 11.36 0.876 0.512 Thompson et al., 2013 DNA SEQ MLH1_03571 - - -
?/? 14 c.1627C>T - p.H543Y 4.9 0.04 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03572 - - -
?/? 14 c.1628A>C - p.H543P 31.44 0.907 0.9235 Thompson et al., 2013 DNA SEQ MLH1_03573 - - -
?/? 14 c.1628A>G - p.H543R 10.39 0.923 0.5114 Thompson et al., 2013 DNA SEQ MLH1_03574 - - -
?/? 14 c.1628A>T - p.H543L 10.14 0.699 0.2761 Thompson et al., 2013 DNA SEQ MLH1_03575 - - -
?/? 14 c.1629T>A - p.H543Q 7.37 0.907 0.3096 Thompson et al., 2013 DNA SEQ MLH1_03576 - - -
?/? 14 c.1629T>G - p.H543Q 7.37 0.907 0.3096 Thompson et al., 2013 DNA SEQ MLH1_03577 - - -
?/? 14 c.1630C>A - p.Q544K 3.03 0.003 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03578 - - -
?/? 14 c.1630C>G - p.Q544E 5.57 0.006 0.0051 Thompson et al., 2013 DNA SEQ MLH1_03579 - - -
?/? 14 c.1631A>C - p.Q544P 18.29 0.173 0.1341 Thompson et al., 2013 DNA SEQ MLH1_03580 - - -
?/? 14 c.1631A>G - p.Q544R 4.81 0.003 0.0036 Thompson et al., 2013 DNA SEQ MLH1_03581 - - -
?/? 14 c.1631A>T - p.Q544L 25.49 0.005 0.1385 Thompson et al., 2013 DNA SEQ MLH1_03582 - - -
?/? 14 c.1632A>C - p.Q544H 4.86 0.009 0.0038 Thompson et al., 2013 DNA SEQ MLH1_03583 - - -
?/? 14 c.1632A>T - p.Q544H 4.86 0.009 0.0038 Thompson et al., 2013 DNA SEQ MLH1_03584 - - -
?/? 14 c.1633A>C - p.T545P 43.72 0.958 0.9694 Thompson et al., 2013 DNA SEQ MLH1_03585 - - -
?/? 14 c.1633A>G - p.T545A 37.99 0.587 0.826 Thompson et al., 2013 DNA SEQ MLH1_03586 - - -
?/? 14 c.1633A>T - p.T545S 11.33 0.846 0.4786 Thompson et al., 2013 DNA SEQ MLH1_03587 - - -
?/? 14 c.1634C>A - p.T545N 20.18 0.975 0.855 Thompson et al., 2013 DNA SEQ MLH1_03588 - - -
?/? 14 c.1634C>G - p.T545S 11.33 0.846 0.4786 Thompson et al., 2013 DNA SEQ MLH1_03589 - - -
?/? 14 c.1634C>T - p.T545I 33.48 0.909 0.9335 Thompson et al., 2013 DNA SEQ MLH1_03590 - - -
?/? 14 c.1636A>C - p.K546Q 11.13 0.413 0.1223 Thompson et al., 2013 DNA SEQ MLH1_03591 - - -
?/? 14 c.1636A>G - p.K546E 20.69 0.278 0.2426 Thompson et al., 2013 DNA SEQ MLH1_03592 - - -
?/? 14 c.1637A>C - p.K546T 23.98 0.539 0.5765 Thompson et al., 2013 DNA SEQ MLH1_03593 - - -
?/? 14 c.1637A>G - p.K546R 3.83 0.016 0.0023 Thompson et al., 2013 DNA SEQ MLH1_03594 - - -
?/? 14 c.1637A>T - p.K546M 14.74 0.781 0.5584 Thompson et al., 2013 DNA SEQ MLH1_03595 - - -
?/? 14 c.1638G>C - p.K546N 12.94 0.032 0.0373 Thompson et al., 2013 DNA SEQ MLH1_03596 - - -
?/? 14 c.1638G>T - p.K546N 12.94 0.032 0.0373 Thompson et al., 2013 DNA SEQ MLH1_03597 - - -
?/? 14 c.1639T>A - p.L547I 15.46 0.993 0.7766 Thompson et al., 2013 DNA SEQ MLH1_03598 - - -
?/? 14 c.1639T>G - p.L547V 25.8 0.993 0.9175 Thompson et al., 2013 DNA SEQ MLH1_03599 - - -
?/? 14 c.1640T>C - p.L547S 22.76 0.996 0.8944 Thompson et al., 2013 DNA SEQ MLH1_03600 - - -
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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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