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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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?/? 11 c.962G>A - p.S321N 2.29 0.124 0.0011 Thompson et al., 2013 DNA SEQ MLH1_01741 - - -
?/? 11 c.962G>C - p.S321T 2.73 0.078 0.0014 Thompson et al., 2013 DNA SEQ MLH1_01742 - - -
?/? 11 c.962G>T - p.S321I 4.21 0.306 0.0096 Thompson et al., 2013 DNA SEQ MLH1_01743 - - -
?/? 11 c.963C>A - p.S321R 6.4 0.395 0.0355 Thompson et al., 2013 DNA SEQ MLH1_01744 - - -
?/? 11 c.963C>G - p.S321R 6.4 0.395 0.0355 Thompson et al., 2013 DNA SEQ MLH1_01745 - - -
?/? 11 c.964A>C - p.I322L 10.17 0.65 0.2376 Thompson et al., 2013 DNA SEQ MLH1_01746 - - -
?/? 11 c.964A>G - p.I322V 6.01 0.08 0.0083 Thompson et al., 2013 DNA SEQ MLH1_01747 - - -
?/? 11 c.964A>T - p.I322F 8.77 0.924 0.4171 Thompson et al., 2013 DNA SEQ MLH1_01748 - - -
?/? 11 c.965T>A - p.I322N 15.46 0.978 0.7653 Thompson et al., 2013 DNA SEQ MLH1_01749 - - -
?/? 11 c.965T>C - p.I322T 14.44 0.892 0.6594 Thompson et al., 2013 DNA SEQ MLH1_01750 - - -
?/? 11 c.965T>G - p.I322S 13.67 0.924 0.6621 Thompson et al., 2013 DNA SEQ MLH1_01751 - - -
?/? 11 c.966C>G - p.I322M 14.89 0.915 0.696 Thompson et al., 2013 DNA SEQ MLH1_01752 - - -
?/? 11 c.967C>A - p.L323M 6.2 0.434 0.0388 Thompson et al., 2013 DNA SEQ MLH1_01753 - - -
?/? 11 c.967C>G - p.L323V 3.18 0.003 0.0014 Thompson et al., 2013 DNA SEQ MLH1_01754 - - -
?/? 11 c.968T>A - p.L323Q 10.19 0.653 0.2407 Thompson et al., 2013 DNA SEQ MLH1_01755 - - -
?/? 11 c.968T>C - p.L323P 13.47 0.653 0.374 Thompson et al., 2013 DNA SEQ MLH1_01756 - - -
?/? 11 c.968T>G - p.L323R 35.46 0.761 0.8949 Thompson et al., 2013 DNA SEQ MLH1_01757 - - -
?/? 11 c.970G>A - p.E324K 6.78 0.056 0.0098 Thompson et al., 2013 DNA SEQ MLH1_01758 - - -
?/? 11 c.970G>C - p.E324Q 3.53 0.056 0.0022 Thompson et al., 2013 DNA SEQ MLH1_01759 - - -
?/? 11 c.971A>C - p.E324A 9.99 0.056 0.0233 Thompson et al., 2013 DNA SEQ MLH1_01760 - - -
?/? 11 c.971A>G - p.E324G 11.53 0.442 0.1459 Thompson et al., 2013 DNA SEQ MLH1_01761 - - -
?/? 11 c.971A>T - p.E324V 12.15 0.592 0.2671 Thompson et al., 2013 DNA SEQ MLH1_01762 - - -
?/? 11 c.972G>C - p.E324D 3.83 0.033 0.0024 Thompson et al., 2013 DNA SEQ MLH1_01763 - - -
?/? 11 c.972G>T - p.E324D 3.83 0.033 0.0024 Thompson et al., 2013 DNA SEQ MLH1_01764 - - -
?/? 11 c.973C>G - p.R325G 2.85 0.343 0.0047 Thompson et al., 2013 DNA SEQ MLH1_01765 - - -
?/? 11 c.973C>T - p.R325W 5.18 0.899 0.1629 Thompson et al., 2013 DNA SEQ MLH1_01766 - - -
?/? 11 c.974G>A - p.R325Q 1.87 0.49 0.0034 Thompson et al., 2013 DNA SEQ MLH1_01767 - - -
?/? 11 c.974G>C - p.R325P 8.38 0.714 0.2087 Thompson et al., 2013 DNA SEQ MLH1_01768 - - -
?/? 11 c.974G>T - p.R325L 3.32 0.48 0.0118 Thompson et al., 2013 DNA SEQ MLH1_01769 - - -
?/? 11 c.976G>A - p.V326M 16.37 0.072 0.0726 Thompson et al., 2013 DNA SEQ MLH1_01770 - - -
?/? 11 c.976G>C - p.V326L 12.18 0.021 0.0312 Thompson et al., 2013 DNA SEQ MLH1_01771 - - -
?/? 11 c.976G>T - p.V326L 12.18 0.021 0.0312 Thompson et al., 2013 DNA SEQ MLH1_01772 - - -
?/? 11 c.977T>A - p.V326E 29.17 0.56 0.699 Thompson et al., 2013 DNA SEQ MLH1_01773 - - -
?/? 11 c.977T>C - p.V326A 19.95 0.255 0.211 Thompson et al., 2013 DNA SEQ MLH1_01774 - - -
?/? 11 c.977T>G - p.V326G 14.55 0.679 0.4429 Thompson et al., 2013 DNA SEQ MLH1_01775 - - -
?/? 11 c.979C>A - p.Q327K 27.25 0.094 0.2147 Thompson et al., 2013 DNA SEQ MLH1_01776 - - -
?/? 11 c.979C>G - p.Q327E 26.89 0.743 0.8081 Thompson et al., 2013 DNA SEQ MLH1_01777 - - -
?/? 11 c.980A>C - p.Q327P 39.94 0.947 0.961 Thompson et al., 2013 DNA SEQ MLH1_01778 - - -
?/? 11 c.980A>G - p.Q327R 33.7 0.81 0.9034 Thompson et al., 2013 DNA SEQ MLH1_01779 - - -
?/? 11 c.980A>T - p.Q327L 19.88 0.81 0.7383 Thompson et al., 2013 DNA SEQ MLH1_01780 - - -
?/? 11 c.981G>C - p.Q327H 14.36 0.959 0.7178 Thompson et al., 2013 DNA SEQ MLH1_01781 - - -
?/? 11 c.981G>T - p.Q327H 14.36 0.959 0.7178 Thompson et al., 2013 DNA SEQ MLH1_01782 - - -
?/? 11 c.982C>A - p.Q328K 1.93 0.006 0.0005 Thompson et al., 2013 DNA SEQ MLH1_01783 - - -
?/? 11 c.982C>G - p.Q328E 15.7 0.011 0.052 Thompson et al., 2013 DNA SEQ MLH1_01784 - - -
?/? 11 c.983A>C - p.Q328P 43.96 0.218 0.5785 Thompson et al., 2013 DNA SEQ MLH1_01785 - - -
?/? 11 c.983A>G - p.Q328R 5.36 0.136 0.0081 Thompson et al., 2013 DNA SEQ MLH1_01786 - - -
?/? 11 c.983A>T - p.Q328L 25.24 0.006 0.1364 Thompson et al., 2013 DNA SEQ MLH1_01787 - - -
?/? 11 c.984G>C - p.Q328H 12.09 0.509 0.202 Thompson et al., 2013 DNA SEQ MLH1_01788 - - -
?/? 11 c.984G>T - p.Q328H 12.09 0.509 0.202 Thompson et al., 2013 DNA SEQ MLH1_01789 - - -
?/? 11 c.985C>A - p.H329N 3.52 0.176 0.0037 Thompson et al., 2013 DNA SEQ MLH1_01790 - - -
?/? 11 c.985C>G - p.H329D 8.21 0.262 0.0354 Thompson et al., 2013 DNA SEQ MLH1_01791 - - -
?/? 11 c.985C>T - p.H329Y 4.3 0.358 0.0126 Thompson et al., 2013 DNA SEQ MLH1_01792 - - -
?/? 11 c.986A>C - p.H329P 12.82 0.385 0.1457 Thompson et al., 2013 DNA SEQ MLH1_01793 - - -
?/? 11 c.986A>G - p.H329R 7.53 0.385 0.0485 Thompson et al., 2013 DNA SEQ MLH1_01794 - - -
?/? 11 c.986A>T - p.H329L 4.9 0.027 0.0042 Thompson et al., 2013 DNA SEQ MLH1_01795 - - -
?/? 11 c.987C>A - p.H329Q 3.32 0.015 0.0016 Thompson et al., 2013 DNA SEQ MLH1_01796 - - -
?/? 11 c.987C>G - p.H329Q 3.32 0.015 0.0016 Thompson et al., 2013 DNA SEQ MLH1_01797 - - -
?/? 11 c.988A>C - p.I330L 6.41 0.006 0.007 Thompson et al., 2013 DNA SEQ MLH1_01798 - - -
?/? 11 c.988A>G - p.I330V 2.72 0.003 0.001 Thompson et al., 2013 DNA SEQ MLH1_01799 - - -
?/? 11 c.988A>T - p.I330F 8.18 0.065 0.0155 Thompson et al., 2013 DNA SEQ MLH1_01800 - - -
?/? 11 c.989T>A - p.I330N 14.45 0.653 0.412 Thompson et al., 2013 DNA SEQ MLH1_01801 - - -
?/? 11 c.989T>C - p.I330T 14.43 0.109 0.0644 Thompson et al., 2013 DNA SEQ MLH1_01802 - - -
?/? 11 c.989T>G - p.I330S 12.92 0.311 0.1124 Thompson et al., 2013 DNA SEQ MLH1_01803 - - -
?/? 11 c.990C>G - p.I330M 12.21 0.065 0.0376 Thompson et al., 2013 DNA SEQ MLH1_01804 - - -
?/? 11 c.991G>A - p.E331K 19.98 0.899 0.8066 Thompson et al., 2013 DNA SEQ MLH1_01805 - - -
?/? 11 c.991G>C - p.E331Q 13.2 0.773 0.4875 Thompson et al., 2013 DNA SEQ MLH1_01806 - - -
?/? 11 c.992A>C - p.E331A 24.45 0.936 0.8853 Thompson et al., 2013 DNA SEQ MLH1_01807 - - -
?/? 11 c.992A>G - p.E331G 28.23 0.936 0.9145 Thompson et al., 2013 DNA SEQ MLH1_01808 - - -
?/? 11 c.992A>T - p.E331V 31.34 0.974 0.941 Thompson et al., 2013 DNA SEQ MLH1_01809 - - -
?/? 11 c.993G>C - p.E331D 13.31 0.437 0.1881 Thompson et al., 2013 DNA SEQ MLH1_01810 - - -
?/? 11 c.993G>T - p.E331D 13.31 0.437 0.1881 Thompson et al., 2013 DNA SEQ MLH1_01811 - - -
?/? 11 c.994A>C - p.S332R 23.17 0.021 0.1217 Thompson et al., 2013 DNA SEQ MLH1_01812 - - -
?/? 11 c.994A>G - p.S332G 2.04 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_01813 - - -
?/? 11 c.994A>T - p.S332C 3.71 0.445 0.013 Thompson et al., 2013 DNA SEQ MLH1_01814 - - -
?/? 11 c.995G>A - p.S332N 2.58 0.007 0.0009 Thompson et al., 2013 DNA SEQ MLH1_01815 - - -
?/? 11 c.995G>C - p.S332T 3.3 0.004 0.0015 Thompson et al., 2013 DNA SEQ MLH1_01816 - - -
?/? 11 c.995G>T - p.S332I 4.65 0.012 0.0035 Thompson et al., 2013 DNA SEQ MLH1_01817 - - -
?/? 11 c.996C>A - p.S332R 23.17 0.021 0.1217 Thompson et al., 2013 DNA SEQ MLH1_01818 - - -
?/? 11 c.996C>G - p.S332R 23.17 0.021 0.1217 Thompson et al., 2013 DNA SEQ MLH1_01819 - - -
?/? 11 c.997A>C - p.K333Q 3.55 0.065 0.0024 Thompson et al., 2013 DNA SEQ MLH1_01820 - - -
?/? 11 c.997A>G - p.K333E 7.5 0.04 0.0115 Thompson et al., 2013 DNA SEQ MLH1_01821 - - -
?/? 11 c.998A>C - p.K333T 14.66 0.04 0.0505 Thompson et al., 2013 DNA SEQ MLH1_01822 - - -
?/? 11 c.998A>G - p.K333R 3.01 0.011 0.0013 Thompson et al., 2013 DNA SEQ MLH1_01823 - - -
?/? 11 c.998A>T - p.K333M 9.04 0.471 0.1001 Thompson et al., 2013 DNA SEQ MLH1_01824 - - -
?/? 11 c.999G>C - p.K333N 9.99 0.33 0.0711 Thompson et al., 2013 DNA SEQ MLH1_01825 - - -
?/? 11 c.999G>T - p.K333N 9.99 0.33 0.0711 Thompson et al., 2013 DNA SEQ MLH1_01826 - - -
?/? 11 c.1000C>A - p.L334I 15.46 0.999 0.781 Thompson et al., 2013 DNA SEQ MLH1_01827 - - -
?/? 11 c.1000C>G - p.L334V 25.8 0.999 0.9194 Thompson et al., 2013 DNA SEQ MLH1_01828 - - -
?/? 11 c.1000C>T - p.L334F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_01829 - - -
?/? 11 c.1001T>A - p.L334H 20.32 1 0.8695 Thompson et al., 2013 DNA SEQ MLH1_02190 - - -
?/? 11 c.1001T>C - p.L334P 36.32 1 0.9614 Thompson et al., 2013 DNA SEQ MLH1_02191 - - -
?/? 11 c.1001T>G - p.L334R 33.02 1 0.9525 Thompson et al., 2013 DNA SEQ MLH1_02192 - - -
?/? 11 c.1003C>A - p.L335M 10.65 0.985 0.5905 Thompson et al., 2013 DNA SEQ MLH1_02193 - - -
?/? 11 c.1003C>G - p.L335V 25.8 0.951 0.9029 Thompson et al., 2013 DNA SEQ MLH1_02194 - - -
?/? 11 c.1004T>A - p.L335Q 15.01 0.985 0.7586 Thompson et al., 2013 DNA SEQ MLH1_02195 - - -
?/? 11 c.1004T>C - p.L335P 36.32 0.991 0.9599 Thompson et al., 2013 DNA SEQ MLH1_02196 - - -
?/? 11 c.1004T>G - p.L335R 33.02 0.98 0.9485 Thompson et al., 2013 DNA SEQ MLH1_02197 - - -
?/? 11 c.1006G>A - p.G336S 4.44 0.247 0.0085 Thompson et al., 2013 DNA SEQ MLH1_02198 - - -
?/? 11 c.1006G>C - p.G336R 36.6 0.916 0.9466 Thompson et al., 2013 DNA SEQ MLH1_02199 - - -
?/? 11 c.1006G>T - p.G336C 15.71 0.96 0.758 Thompson et al., 2013 DNA SEQ MLH1_02200 - - -
2101 - 2200
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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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