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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 MSH6_priors

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Custom PP2.1 score Hide Custom PP2.1 score column Descending
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MAPP score Hide MAPP score column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Reference Hide Reference column Descending
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4 c.2557A>G - p.K853E 0.423 19.83 0.3504 Thompson et al., 2013 DNA SEQ MSH6_05601
4 c.2558A>C - p.K853T 0.138 22.02 0.1689 Thompson et al., 2013 DNA SEQ MSH6_05602
4 c.2558A>G - p.K853R 0.029 2.26 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05603
4 c.2558A>T - p.K853M 0.732 14.68 0.5042 Thompson et al., 2013 DNA SEQ MSH6_05604
4 c.2559G>C - p.K853N 0.752 12.57 0.4377 Thompson et al., 2013 DNA SEQ MSH6_05605
4 c.2559G>T - p.K853N 0.752 12.57 0.4377 Thompson et al., 2013 DNA SEQ MSH6_05606
4 c.2560A>C - p.K854Q 0.636 14.08 0.3806 Thompson et al., 2013 DNA SEQ MSH6_05607
4 c.2560A>G - p.K854E 0.541 23.70 0.5721 Thompson et al., 2013 DNA SEQ MSH6_05608
4 c.2561A>C - p.K854T 0.163 27.99 0.2804 Thompson et al., 2013 DNA SEQ MSH6_05609
4 c.2561A>G - p.K854R 0.277 7.31 0.0292 Thompson et al., 2013 DNA SEQ MSH6_05610
4 c.2561A>T - p.K854M 0.893 17.24 0.7441 Thompson et al., 2013 DNA SEQ MSH6_05611
4 c.2562G>C - p.K854N 0.541 14.55 0.3064 Thompson et al., 2013 DNA SEQ MSH6_05612
4 c.2562G>T - p.K854N 0.541 14.55 0.3064 Thompson et al., 2013 DNA SEQ MSH6_05613
4 c.2563A>C - p.I855L 0.072 10.44 0.0274 Thompson et al., 2013 DNA SEQ MSH6_05614
4 c.2563A>G - p.I855V 0.036 10.65 0.0247 Thompson et al., 2013 DNA SEQ MSH6_05615
4 c.2563A>T - p.I855F 0.422 10.65 0.1158 Thompson et al., 2013 DNA SEQ MSH6_05616
4 c.2564T>A - p.I855N 0.952 17.95 0.8038 Thompson et al., 2013 DNA SEQ MSH6_05617
4 c.2564T>C - p.I855T 0.198 19.60 0.1677 Thompson et al., 2013 DNA SEQ MSH6_05618
4 c.2564T>G - p.I855S 0.738 20.83 0.6977 Thompson et al., 2013 DNA SEQ MSH6_05619
4 c.2565T>G - p.I855M 0.422 15.70 0.2402 Thompson et al., 2013 DNA SEQ MSH6_05620
4 c.2566A>C - p.I856L 0.002 2.72 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05621
4 c.2566A>G - p.I856V 0.000 3.56 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05622
4 c.2566A>T - p.I856F 0.039 3.46 0.0020 Thompson et al., 2013 DNA SEQ MSH6_05623
4 c.2567T>A - p.I856N 0.003 2.62 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05624
4 c.2567T>C - p.I856T 0.001 3.50 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05625
4 c.2567T>G - p.I856S 0.000 2.50 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05626
4 c.2568T>G - p.I856M 0.009 2.42 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05627
4 c.2569G>A - p.D857N 0.717 13.97 0.4601 Thompson et al., 2013 DNA SEQ MSH6_05628
4 c.2569G>C - p.D857H 0.891 20.32 0.8072 Thompson et al., 2013 DNA SEQ MSH6_05629
4 c.2569G>T - p.D857Y 0.829 21.06 0.7771 Thompson et al., 2013 DNA SEQ MSH6_05630
4 c.2570A>C - p.D857A 0.717 29.51 0.8231 Thompson et al., 2013 DNA SEQ MSH6_05631
4 c.2570A>G - p.D857G 0.503 20.85 0.4595 Thompson et al., 2013 DNA SEQ MSH6_05632
4 c.2570A>T - p.D857V 0.726 22.25 0.7181 Thompson et al., 2013 DNA SEQ MSH6_05633
4 c.2571T>A - p.D857E 0.234 23.98 0.2707 Thompson et al., 2013 DNA SEQ MSH6_05634
4 c.2571T>G - p.D857E 0.234 23.98 0.2707 Thompson et al., 2013 DNA SEQ MSH6_05635
4 c.2572T>A - p.F858I 0.921 10.86 0.5343 Thompson et al., 2013 DNA SEQ MSH6_05636
4 c.2572T>C - p.F858L 0.601 12.82 0.2997 Thompson et al., 2013 DNA SEQ MSH6_05637
4 c.2572T>G - p.F858V 0.982 17.61 0.8168 Thompson et al., 2013 DNA SEQ MSH6_05638
4 c.2573T>A - p.F858Y 0.924 16.28 0.7445 Thompson et al., 2013 DNA SEQ MSH6_05639
4 c.2573T>C - p.F858S 0.995 19.43 0.8549 Thompson et al., 2013 DNA SEQ MSH6_05640
4 c.2573T>G - p.F858C 0.998 17.91 0.8322 Thompson et al., 2013 DNA SEQ MSH6_05641
4 c.2574T>A - p.F858L 0.601 12.82 0.2997 Thompson et al., 2013 DNA SEQ MSH6_05642
4 c.2574T>G - p.F858L 0.601 12.82 0.2997 Thompson et al., 2013 DNA SEQ MSH6_05643
4 c.2575C>A - p.L859I 0.192 5.23 0.0097 Thompson et al., 2013 DNA SEQ MSH6_05644
4 c.2575C>G - p.L859V 0.064 13.94 0.0499 Thompson et al., 2013 DNA SEQ MSH6_05645
4 c.2575C>T - p.L859F 0.422 9.43 0.0904 Thompson et al., 2013 DNA SEQ MSH6_05646
4 c.2576T>A - p.L859H 0.963 21.22 0.8626 Thompson et al., 2013 DNA SEQ MSH6_05647
4 c.2576T>C - p.L859P 0.952 35.65 0.9511 Thompson et al., 2013 DNA SEQ MSH6_05648
4 c.2576T>G - p.L859R 0.922 35.01 0.9426 Thompson et al., 2013 DNA SEQ MSH6_05649
4 c.2578T>A - p.S860T 0.044 4.42 0.0035 Thompson et al., 2013 DNA SEQ MSH6_05650
4 c.2578T>C - p.S860P 0.906 12.67 0.6044 Thompson et al., 2013 DNA SEQ MSH6_05651
4 c.2578T>G - p.S860A 0.080 8.69 0.0189 Thompson et al., 2013 DNA SEQ MSH6_05652
4 c.2579C>A - p.S860Y 0.929 11.89 0.5932 Thompson et al., 2013 DNA SEQ MSH6_05653
4 c.2579C>G - p.S860C 0.578 5.22 0.0480 Thompson et al., 2013 DNA SEQ MSH6_05654
4 c.2579C>T - p.S860F 0.825 12.16 0.4963 Thompson et al., 2013 DNA SEQ MSH6_05655
4 c.2581G>A - p.A861T 0.017 5.19 0.0045 Thompson et al., 2013 DNA SEQ MSH6_05656
4 c.2581G>C - p.A861P 0.647 11.77 0.3001 Thompson et al., 2013 DNA SEQ MSH6_05657
4 c.2581G>T - p.A861S 0.159 4.86 0.0071 Thompson et al., 2013 DNA SEQ MSH6_05658
4 c.2582C>A - p.A861D 0.753 40.06 0.9157 Thompson et al., 2013 DNA SEQ MSH6_05659
4 c.2582C>G - p.A861G 0.159 5.66 0.0101 Thompson et al., 2013 DNA SEQ MSH6_05660
4 c.2582C>T - p.A861V 0.010 3.30 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05661
4 c.2584C>A - p.L862M 0.903 10.65 0.5042 Thompson et al., 2013 DNA SEQ MSH6_05662
4 c.2584C>G - p.L862V 0.545 25.80 0.6225 Thompson et al., 2013 DNA SEQ MSH6_05663
4 c.2585T>A - p.L862Q 0.992 15.01 0.7640 Thompson et al., 2013 DNA SEQ MSH6_05664
4 c.2585T>C - p.L862P 0.992 36.32 0.9601 Thompson et al., 2013 DNA SEQ MSH6_05665
4 c.2585T>G - p.L862R 0.992 33.02 0.9509 Thompson et al., 2013 DNA SEQ MSH6_05666
4 c.2587G>A - p.E863K 0.049 18.37 0.0844 Thompson et al., 2013 DNA SEQ MSH6_05667
4 c.2587G>C - p.E863Q 0.290 13.89 0.1201 Thompson et al., 2013 DNA SEQ MSH6_05668
4 c.2588A>C - p.E863A 0.417 22.92 0.4222 Thompson et al., 2013 DNA SEQ MSH6_05669
4 c.2588A>G - p.E863G 0.326 18.21 0.2273 Thompson et al., 2013 DNA SEQ MSH6_05670
4 c.2588A>T - p.E863V 0.652 26.01 0.7260 Thompson et al., 2013 DNA SEQ MSH6_05671
4 c.2589A>C - p.E863D 0.085 2.68 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05672
4 c.2589A>T - p.E863D 0.085 2.68 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05673
4 c.2590G>A - p.G864R 0.920 23.34 0.8665 Thompson et al., 2013 DNA SEQ MSH6_05674
4 c.2590G>C - p.G864R 0.920 23.34 0.8665 Thompson et al., 2013 DNA SEQ MSH6_05675
4 c.2591G>A - p.G864E 0.893 25.54 0.8765 Thompson et al., 2013 DNA SEQ MSH6_05676
4 c.2591G>C - p.G864A 0.361 9.61 0.0741 Thompson et al., 2013 DNA SEQ MSH6_05677
4 c.2591G>T - p.G864V 0.255 18.69 0.1874 Thompson et al., 2013 DNA SEQ MSH6_05678
4 c.2593T>A - p.F865I 0.591 5.84 0.0644 Thompson et al., 2013 DNA SEQ MSH6_05679
4 c.2593T>C - p.F865L 0.153 6.30 0.0125 Thompson et al., 2013 DNA SEQ MSH6_05680
4 c.2593T>G - p.F865V 0.503 11.00 0.1660 Thompson et al., 2013 DNA SEQ MSH6_05681
4 c.2594T>A - p.F865Y 0.467 5.71 0.0371 Thompson et al., 2013 DNA SEQ MSH6_05682
4 c.2594T>C - p.F865S 0.965 10.79 0.5770 Thompson et al., 2013 DNA SEQ MSH6_05683
4 c.2594T>G - p.F865C 0.752 10.51 0.3415 Thompson et al., 2013 DNA SEQ MSH6_05684
4 c.2595C>A - p.F865L 0.153 6.30 0.0125 Thompson et al., 2013 DNA SEQ MSH6_05685
4 c.2595C>G - p.F865L 0.153 6.30 0.0125 Thompson et al., 2013 DNA SEQ MSH6_05686
4 c.2596A>C - p.K866Q 0.188 5.32 0.0099 Thompson et al., 2013 DNA SEQ MSH6_05687
4 c.2596A>G - p.K866E 0.049 4.41 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05688
4 c.2597A>C - p.K866T 0.652 10.00 0.2323 Thompson et al., 2013 DNA SEQ MSH6_05689
4 c.2597A>G - p.K866R 0.136 4.06 0.0043 Thompson et al., 2013 DNA SEQ MSH6_05690
4 c.2597A>T - p.K866I 0.850 20.76 0.7868 Thompson et al., 2013 DNA SEQ MSH6_05691
4 c.2598A>C - p.K866N 0.326 7.46 0.0373 Thompson et al., 2013 DNA SEQ MSH6_05692
4 c.2598A>T - p.K866N 0.326 7.46 0.0373 Thompson et al., 2013 DNA SEQ MSH6_05693
4 c.2599G>A - p.V867I 0.004 3.11 0.0013 Thompson et al., 2013 DNA SEQ MSH6_05694
4 c.2599G>C - p.V867L 0.001 4.14 0.0025 Thompson et al., 2013 DNA SEQ MSH6_05695
4 c.2599G>T - p.V867L 0.001 4.14 0.0025 Thompson et al., 2013 DNA SEQ MSH6_05696
4 c.2600T>A - p.V867E 0.004 29.79 0.1857 Thompson et al., 2013 DNA SEQ MSH6_05697
4 c.2600T>C - p.V867A 0.001 3.50 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05698
4 c.2600T>G - p.V867G 0.007 3.26 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05699
4 c.2602A>C - p.M868L 0.001 3.60 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05700
5601 - 5700
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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: [ MSH6_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.
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. Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP score: output score from MAPP 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. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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