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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.2513C>T - p.P838L 0.999 26.92 0.9263 Thompson et al., 2013 DNA SEQ MSH6_05501
4 c.2515G>A - p.D839N 0.998 14.08 0.7417 Thompson et al., 2013 DNA SEQ MSH6_05502
4 c.2515G>C - p.D839H 0.998 18.64 0.8445 Thompson et al., 2013 DNA SEQ MSH6_05503
4 c.2515G>T - p.D839Y 0.998 14.92 0.7661 Thompson et al., 2013 DNA SEQ MSH6_05504
4 c.2516A>C - p.D839A 0.956 22.13 0.8702 Thompson et al., 2013 DNA SEQ MSH6_05505
4 c.2516A>G - p.D839G 0.994 18.46 0.8393 Thompson et al., 2013 DNA SEQ MSH6_05506
4 c.2516A>T - p.D839V 0.996 23.62 0.9021 Thompson et al., 2013 DNA SEQ MSH6_05507
4 c.2517C>A - p.D839E 0.897 4.50 0.1230 Thompson et al., 2013 DNA SEQ MSH6_05508
4 c.2517C>G - p.D839E 0.897 4.50 0.1230 Thompson et al., 2013 DNA SEQ MSH6_05509
4 c.2518A>C - p.S840R 0.169 23.41 0.2104 Thompson et al., 2013 DNA SEQ MSH6_05510
4 c.2518A>G - p.S840G 0.019 2.38 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05511
4 c.2518A>T - p.S840C 0.722 6.25 0.1230 Thompson et al., 2013 DNA SEQ MSH6_05512
4 c.2519G>A - p.S840N 0.104 3.90 0.0034 Thompson et al., 2013 DNA SEQ MSH6_05513
4 c.2519G>C - p.S840T 0.024 4.50 0.0034 Thompson et al., 2013 DNA SEQ MSH6_05514
4 c.2519G>T - p.S840I 0.663 9.32 0.2127 Thompson et al., 2013 DNA SEQ MSH6_05515
4 c.2520C>A - p.S840R 0.169 23.41 0.2104 Thompson et al., 2013 DNA SEQ MSH6_05516
4 c.2520C>G - p.S840R 0.169 23.41 0.2104 Thompson et al., 2013 DNA SEQ MSH6_05517
4 c.2521A>G - p.R841G 0.889 25.90 0.8781 Thompson et al., 2013 DNA SEQ MSH6_05518
4 c.2521A>T - p.R841W 0.998 22.31 0.8909 Thompson et al., 2013 DNA SEQ MSH6_05519
4 c.2522G>A - p.R841K 0.445 6.07 0.0388 Thompson et al., 2013 DNA SEQ MSH6_05520
4 c.2522G>C - p.R841T 0.967 26.48 0.9135 Thompson et al., 2013 DNA SEQ MSH6_05521
4 c.2522G>T - p.R841M 0.989 15.78 0.7817 Thompson et al., 2013 DNA SEQ MSH6_05522
4 c.2523G>C - p.R841S 0.889 21.57 0.8262 Thompson et al., 2013 DNA SEQ MSH6_05523
4 c.2523G>T - p.R841S 0.889 21.57 0.8262 Thompson et al., 2013 DNA SEQ MSH6_05524
4 c.2524G>A - p.A842T 0.929 33.24 0.9377 Thompson et al., 2013 DNA SEQ MSH6_05525
4 c.2524G>C - p.A842P 0.779 38.15 0.9157 Thompson et al., 2013 DNA SEQ MSH6_05526
4 c.2524G>T - p.A842S 0.941 23.39 0.8770 Thompson et al., 2013 DNA SEQ MSH6_05527
4 c.2525C>A - p.A842D 0.956 43.15 0.9683 Thompson et al., 2013 DNA SEQ MSH6_05528
4 c.2525C>G - p.A842G 0.575 22.29 0.5734 Thompson et al., 2013 DNA SEQ MSH6_05529
4 c.2525C>T - p.A842V 0.182 35.49 0.4201 Thompson et al., 2013 DNA SEQ MSH6_05530
4 c.2527A>C - p.I843L 0.615 10.37 0.2191 Thompson et al., 2013 DNA SEQ MSH6_05531
4 c.2527A>G - p.I843V 0.023 4.06 0.0027 Thompson et al., 2013 DNA SEQ MSH6_05532
4 c.2527A>T - p.I843L 0.615 10.37 0.2191 Thompson et al., 2013 DNA SEQ MSH6_05533
4 c.2528T>A - p.I843K 0.913 27.74 0.9031 Thompson et al., 2013 DNA SEQ MSH6_05534
4 c.2528T>C - p.I843T 0.390 13.62 0.1665 Thompson et al., 2013 DNA SEQ MSH6_05535
4 c.2528T>G - p.I843R 0.967 31.32 0.9392 Thompson et al., 2013 DNA SEQ MSH6_05536
4 c.2529A>G - p.I843M 0.903 14.81 0.6825 Thompson et al., 2013 DNA SEQ MSH6_05537
4 c.2530A>C - p.M844L 0.001 3.90 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05538
4 c.2530A>G - p.M844V 0.014 10.17 0.0203 Thompson et al., 2013 DNA SEQ MSH6_05539
4 c.2530A>T - p.M844L 0.001 3.90 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05540
4 c.2531T>A - p.M844K 0.240 29.16 0.3725 Thompson et al., 2013 DNA SEQ MSH6_05541
4 c.2531T>C - p.M844T 0.097 10.43 0.0303 Thompson et al., 2013 DNA SEQ MSH6_05542
4 c.2531T>G - p.M844R 0.461 34.86 0.6954 Thompson et al., 2013 DNA SEQ MSH6_05543
4 c.2532G>A - p.M844I 0.023 6.31 0.0072 Thompson et al., 2013 DNA SEQ MSH6_05544
4 c.2532G>C - p.M844I 0.023 6.31 0.0072 Thompson et al., 2013 DNA SEQ MSH6_05545
4 c.2532G>T - p.M844I 0.023 6.31 0.0072 Thompson et al., 2013 DNA SEQ MSH6_05546
4 c.2533T>A - p.Y845N 0.500 21.06 0.4620 Thompson et al., 2013 DNA SEQ MSH6_05547
4 c.2533T>C - p.Y845H 0.932 17.49 0.7801 Thompson et al., 2013 DNA SEQ MSH6_05548
4 c.2533T>G - p.Y845D 0.860 27.96 0.8833 Thompson et al., 2013 DNA SEQ MSH6_05549
4 c.2534A>C - p.Y845S 0.277 17.01 0.1698 Thompson et al., 2013 DNA SEQ MSH6_05550
4 c.2534A>G - p.Y845C 0.932 14.49 0.6983 Thompson et al., 2013 DNA SEQ MSH6_05551
4 c.2534A>T - p.Y845F 0.019 4.50 0.0033 Thompson et al., 2013 DNA SEQ MSH6_05552
4 c.2536G>A - p.E846K 0.239 6.79 0.0212 Thompson et al., 2013 DNA SEQ MSH6_05553
4 c.2536G>C - p.E846Q 0.616 6.19 0.0803 Thompson et al., 2013 DNA SEQ MSH6_05554
4 c.2537A>C - p.E846A 0.812 19.71 0.7362 Thompson et al., 2013 DNA SEQ MSH6_05555
4 c.2537A>G - p.E846G 0.380 13.43 0.1564 Thompson et al., 2013 DNA SEQ MSH6_05556
4 c.2537A>T - p.E846V 0.486 27.30 0.5931 Thompson et al., 2013 DNA SEQ MSH6_05557
4 c.2538A>C - p.E846D 0.171 5.71 0.0108 Thompson et al., 2013 DNA SEQ MSH6_05558
4 c.2538A>T - p.E846D 0.171 5.71 0.0108 Thompson et al., 2013 DNA SEQ MSH6_05559
4 c.2539G>A - p.E847K 0.798 18.30 0.6896 Thompson et al., 2013 DNA SEQ MSH6_05560
4 c.2539G>C - p.E847Q 0.914 13.83 0.6585 Thompson et al., 2013 DNA SEQ MSH6_05561
4 c.2540A>C - p.E847A 0.434 23.03 0.4426 Thompson et al., 2013 DNA SEQ MSH6_05562
4 c.2540A>G - p.E847G 0.149 18.61 0.1269 Thompson et al., 2013 DNA SEQ MSH6_05563
4 c.2540A>T - p.E847V 0.778 25.36 0.8105 Thompson et al., 2013 DNA SEQ MSH6_05564
4 c.2541A>C - p.E847D 0.088 3.48 0.0025 Thompson et al., 2013 DNA SEQ MSH6_05565
4 c.2541A>T - p.E847D 0.088 3.48 0.0025 Thompson et al., 2013 DNA SEQ MSH6_05566
4 c.2542A>C - p.T848P 0.033 6.30 0.0075 Thompson et al., 2013 DNA SEQ MSH6_05567
4 c.2542A>G - p.T848A 0.017 4.16 0.0028 Thompson et al., 2013 DNA SEQ MSH6_05568
4 c.2542A>T - p.T848S 0.021 2.18 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05569
4 c.2543C>A - p.T848N 0.336 2.47 0.0033 Thompson et al., 2013 DNA SEQ MSH6_05570
4 c.2543C>G - p.T848S 0.021 2.18 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05571
4 c.2543C>T - p.T848I 0.021 2.38 0.0008 Thompson et al., 2013 DNA SEQ MSH6_05572
4 c.2545A>C - p.T849P 0.715 7.99 0.1921 Thompson et al., 2013 DNA SEQ MSH6_05573
4 c.2545A>G - p.T849A 0.103 3.88 0.0034 Thompson et al., 2013 DNA SEQ MSH6_05574
4 c.2545A>T - p.T849S 0.168 1.96 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05575
4 c.2546C>A - p.T849K 0.032 3.14 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05576
4 c.2546C>G - p.T849R 0.344 3.70 0.0085 Thompson et al., 2013 DNA SEQ MSH6_05577
4 c.2546C>T - p.T849I 0.168 2.42 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05578
4 c.2548T>A - p.Y850N 0.996 17.86 0.8301 Thompson et al., 2013 DNA SEQ MSH6_05579
4 c.2548T>C - p.Y850H 0.963 16.52 0.7805 Thompson et al., 2013 DNA SEQ MSH6_05580
4 c.2548T>G - p.Y850D 0.996 35.81 0.9595 Thompson et al., 2013 DNA SEQ MSH6_05581
4 c.2549A>C - p.Y850S 0.990 18.59 0.8391 Thompson et al., 2013 DNA SEQ MSH6_05582
4 c.2549A>G - p.Y850C 0.974 23.02 0.8878 Thompson et al., 2013 DNA SEQ MSH6_05583
4 c.2549A>T - p.Y850F 0.908 22.82 0.8542 Thompson et al., 2013 DNA SEQ MSH6_05584
4 c.2551A>C - p.S851R 0.520 36.37 0.7637 Thompson et al., 2013 DNA SEQ MSH6_05585
4 c.2551A>G - p.S851G 0.072 9.08 0.0201 Thompson et al., 2013 DNA SEQ MSH6_05586
4 c.2551A>T - p.S851C 0.656 20.41 0.6085 Thompson et al., 2013 DNA SEQ MSH6_05587
4 c.2552G>A - p.S851N 0.192 14.09 0.0850 Thompson et al., 2013 DNA SEQ MSH6_05588
4 c.2552G>C - p.S851T 0.302 13.44 0.1176 Thompson et al., 2013 DNA SEQ MSH6_05589
4 c.2552G>T - p.S851I 0.520 29.33 0.6648 Thompson et al., 2013 DNA SEQ MSH6_05590
4 c.2553C>A - p.S851R 0.520 36.37 0.7637 Thompson et al., 2013 DNA SEQ MSH6_05591
4 c.2553C>G - p.S851R 0.520 36.37 0.7637 Thompson et al., 2013 DNA SEQ MSH6_05592
4 c.2554A>C - p.K852Q 0.636 14.08 0.3806 Thompson et al., 2013 DNA SEQ MSH6_05593
4 c.2554A>G - p.K852E 0.636 23.70 0.6671 Thompson et al., 2013 DNA SEQ MSH6_05594
4 c.2555A>C - p.K852T 0.284 27.99 0.3949 Thompson et al., 2013 DNA SEQ MSH6_05595
4 c.2555A>G - p.K852R 0.402 7.31 0.0487 Thompson et al., 2013 DNA SEQ MSH6_05596
4 c.2555A>T - p.K852M 0.938 17.24 0.7789 Thompson et al., 2013 DNA SEQ MSH6_05597
4 c.2556G>C - p.K852N 0.498 14.55 0.2689 Thompson et al., 2013 DNA SEQ MSH6_05598
4 c.2556G>T - p.K852N 0.498 14.55 0.2689 Thompson et al., 2013 DNA SEQ MSH6_05599
4 c.2557A>C - p.K853Q 0.191 10.54 0.0456 Thompson et al., 2013 DNA SEQ MSH6_05600
5501 - 5600
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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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