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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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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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9 c.3873G>T - p.K1291N 0.006 2.17 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08501
9 c.3874G>A - p.G1292R 0.999 36.52 0.9617 Thompson et al., 2013 DNA SEQ MSH6_08502
9 c.3874G>C - p.G1292R 0.999 36.52 0.9617 Thompson et al., 2013 DNA SEQ MSH6_08503
9 c.3875G>A - p.G1292E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ MSH6_08504
9 c.3875G>C - p.G1292A 0.999 22.05 0.8887 Thompson et al., 2013 DNA SEQ MSH6_08505
9 c.3875G>T - p.G1292V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_08506
9 c.3877G>A - p.A1293T 0.422 11.33 0.1310 Thompson et al., 2013 DNA SEQ MSH6_08507
9 c.3877G>C - p.A1293P 0.175 13.38 0.0713 Thompson et al., 2013 DNA SEQ MSH6_08508
9 c.3877G>T - p.A1293S 0.198 7.12 0.0198 Thompson et al., 2013 DNA SEQ MSH6_08509
9 c.3878C>A - p.A1293D 0.896 7.33 0.2971 Thompson et al., 2013 DNA SEQ MSH6_08510
9 c.3878C>G - p.A1293G 0.888 7.45 0.2977 Thompson et al., 2013 DNA SEQ MSH6_08511
9 c.3878C>T - p.A1293V 0.036 14.55 0.0489 Thompson et al., 2013 DNA SEQ MSH6_08512
9 c.3880T>A - p.C1294S 0.514 14.04 0.2663 Thompson et al., 2013 DNA SEQ MSH6_08513
9 c.3880T>C - p.C1294R 0.992 34.86 0.9564 Thompson et al., 2013 DNA SEQ MSH6_08514
9 c.3880T>G - p.C1294G 0.985 15.41 0.7693 Thompson et al., 2013 DNA SEQ MSH6_08515
9 c.3881G>A - p.C1294Y 0.986 21.23 0.8739 Thompson et al., 2013 DNA SEQ MSH6_08516
9 c.3881G>C - p.C1294S 0.514 14.04 0.2663 Thompson et al., 2013 DNA SEQ MSH6_08517
9 c.3881G>T - p.C1294F 0.992 21.32 0.8778 Thompson et al., 2013 DNA SEQ MSH6_08518
9 c.3882T>G - p.C1294W 0.997 32.95 0.9517 Thompson et al., 2013 DNA SEQ MSH6_08519
9 c.3883C>A - p.P1295T 0.634 17.77 0.5082 Thompson et al., 2013 DNA SEQ MSH6_08520
9 c.3883C>G - p.P1295A 0.720 20.00 0.6609 Thompson et al., 2013 DNA SEQ MSH6_08521
9 c.3883C>T - p.P1295S 0.497 17.50 0.3576 Thompson et al., 2013 DNA SEQ MSH6_08522
9 c.3884C>A - p.P1295H 0.720 19.31 0.6429 Thompson et al., 2013 DNA SEQ MSH6_08523
9 c.3884C>G - p.P1295R 0.979 41.48 0.9685 Thompson et al., 2013 DNA SEQ MSH6_08524
9 c.3884C>T - p.P1295L 0.972 26.92 0.9180 Thompson et al., 2013 DNA SEQ MSH6_08525
9 c.3886A>C - p.K1296Q 0.819 14.08 0.5726 Thompson et al., 2013 DNA SEQ MSH6_08526
9 c.3886A>G - p.K1296E 0.634 23.70 0.6652 Thompson et al., 2013 DNA SEQ MSH6_08527
9 c.3887A>C - p.K1296T 0.925 27.99 0.9092 Thompson et al., 2013 DNA SEQ MSH6_08528
9 c.3887A>G - p.K1296R 0.454 7.31 0.0601 Thompson et al., 2013 DNA SEQ MSH6_08529
9 c.3887A>T - p.K1296I 0.984 25.96 0.9156 Thompson et al., 2013 DNA SEQ MSH6_08530
9 c.3888A>C - p.K1296N 0.720 14.55 0.4863 Thompson et al., 2013 DNA SEQ MSH6_08531
9 c.3888A>T - p.K1296N 0.720 14.55 0.4863 Thompson et al., 2013 DNA SEQ MSH6_08532
9 c.3889A>C - p.S1297R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ MSH6_08533
9 c.3889A>G - p.S1297G 1.000 9.08 0.5169 Thompson et al., 2013 DNA SEQ MSH6_08534
9 c.3889A>T - p.S1297C 1.000 20.41 0.8706 Thompson et al., 2013 DNA SEQ MSH6_08535
9 c.3890G>A - p.S1297N 1.000 14.09 0.7437 Thompson et al., 2013 DNA SEQ MSH6_08536
9 c.3890G>C - p.S1297T 1.000 13.44 0.7227 Thompson et al., 2013 DNA SEQ MSH6_08537
9 c.3890G>T - p.S1297I 1.000 29.33 0.9387 Thompson et al., 2013 DNA SEQ MSH6_08538
9 c.3891C>A - p.S1297R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ MSH6_08539
9 c.3891C>G - p.S1297R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ MSH6_08540
9 c.3892T>A - p.Y1298N 0.995 17.86 0.8295 Thompson et al., 2013 DNA SEQ MSH6_08541
9 c.3892T>C - p.Y1298H 0.840 16.52 0.6780 Thompson et al., 2013 DNA SEQ MSH6_08542
9 c.3892T>G - p.Y1298D 0.995 35.81 0.9594 Thompson et al., 2013 DNA SEQ MSH6_08543
9 c.3893A>C - p.Y1298S 0.993 18.59 0.8408 Thompson et al., 2013 DNA SEQ MSH6_08544
9 c.3893A>G - p.Y1298C 0.998 23.02 0.8976 Thompson et al., 2013 DNA SEQ MSH6_08545
9 c.3893A>T - p.Y1298F 0.356 22.82 0.3581 Thompson et al., 2013 DNA SEQ MSH6_08546
9 c.3895G>A - p.G1299S 0.994 7.50 0.4033 Thompson et al., 2013 DNA SEQ MSH6_08547
9 c.3895G>C - p.G1299R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_08548
9 c.3895G>T - p.G1299C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_08549
9 c.3896G>A - p.G1299D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ MSH6_08550
9 c.3896G>C - p.G1299A 0.989 22.05 0.8844 Thompson et al., 2013 DNA SEQ MSH6_08551
9 c.3896G>T - p.G1299V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_08552
9 c.3898T>A - p.F1300I 0.259 10.86 0.0640 Thompson et al., 2013 DNA SEQ MSH6_08553
9 c.3898T>C - p.F1300L 0.115 12.82 0.0512 Thompson et al., 2013 DNA SEQ MSH6_08554
9 c.3898T>G - p.F1300V 0.064 17.61 0.0820 Thompson et al., 2013 DNA SEQ MSH6_08555
9 c.3899T>A - p.F1300Y 0.838 16.28 0.6689 Thompson et al., 2013 DNA SEQ MSH6_08556
9 c.3899T>C - p.F1300S 0.422 19.43 0.3390 Thompson et al., 2013 DNA SEQ MSH6_08557
9 c.3899T>G - p.F1300C 0.656 17.91 0.5360 Thompson et al., 2013 DNA SEQ MSH6_08558
9 c.3900T>A - p.F1300L 0.115 12.82 0.0512 Thompson et al., 2013 DNA SEQ MSH6_08559
9 c.3900T>G - p.F1300L 0.115 12.82 0.0512 Thompson et al., 2013 DNA SEQ MSH6_08560
9 c.3901A>C - p.N1301H 0.406 5.27 0.0242 Thompson et al., 2013 DNA SEQ MSH6_08561
9 c.3901A>G - p.N1301D 0.903 14.09 0.6575 Thompson et al., 2013 DNA SEQ MSH6_08562
9 c.3901A>T - p.N1301Y 0.729 7.72 0.1892 Thompson et al., 2013 DNA SEQ MSH6_08563
9 c.3902A>C - p.N1301T 0.990 7.30 0.3846 Thompson et al., 2013 DNA SEQ MSH6_08564
9 c.3902A>G - p.N1301S 0.977 7.51 0.3867 Thompson et al., 2013 DNA SEQ MSH6_08565
9 c.3902A>T - p.N1301I 0.978 26.86 0.9195 Thompson et al., 2013 DNA SEQ MSH6_08566
9 c.3903T>A - p.N1301K 0.781 10.08 0.3480 Thompson et al., 2013 DNA SEQ MSH6_08567
9 c.3903T>G - p.N1301K 0.781 10.08 0.3480 Thompson et al., 2013 DNA SEQ MSH6_08568
9 c.3904G>A - p.A1302T 0.820 33.24 0.9044 Thompson et al., 2013 DNA SEQ MSH6_08569
9 c.3904G>C - p.A1302P 0.970 38.15 0.9608 Thompson et al., 2013 DNA SEQ MSH6_08570
9 c.3904G>T - p.A1302S 0.893 23.39 0.8532 Thompson et al., 2013 DNA SEQ MSH6_08571
9 c.3905C>A - p.A1302E 0.970 37.64 0.9596 Thompson et al., 2013 DNA SEQ MSH6_08572
9 c.3905C>G - p.A1302G 0.959 22.29 0.8734 Thompson et al., 2013 DNA SEQ MSH6_08573
9 c.3905C>T - p.A1302V 0.020 35.49 0.2665 Thompson et al., 2013 DNA SEQ MSH6_08574
9 c.3907G>A - p.A1303T 0.999 33.24 0.9530 Thompson et al., 2013 DNA SEQ MSH6_08575
9 c.3907G>C - p.A1303P 1.000 38.15 0.9653 Thompson et al., 2013 DNA SEQ MSH6_08576
9 c.3907G>T - p.A1303S 0.999 23.39 0.9013 Thompson et al., 2013 DNA SEQ MSH6_08577
9 c.3908C>A - p.A1303E 1.000 37.64 0.9643 Thompson et al., 2013 DNA SEQ MSH6_08578
9 c.3908C>G - p.A1303G 0.991 22.29 0.8878 Thompson et al., 2013 DNA SEQ MSH6_08579
9 c.3908C>T - p.A1303V 0.999 35.49 0.9592 Thompson et al., 2013 DNA SEQ MSH6_08580
9 c.3910A>G - p.R1304G 0.584 28.27 0.7055 Thompson et al., 2013 DNA SEQ MSH6_08581
9 c.3910A>T - p.R1304W 0.990 15.02 0.7627 Thompson et al., 2013 DNA SEQ MSH6_08582
9 c.3911G>A - p.R1304K 0.072 2.67 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08583
9 c.3911G>C - p.R1304T 0.422 20.03 0.3547 Thompson et al., 2013 DNA SEQ MSH6_08584
9 c.3911G>T - p.R1304M 0.656 5.49 0.0731 Thompson et al., 2013 DNA SEQ MSH6_08585
9 c.3912G>C - p.R1304S 0.444 21.32 0.4102 Thompson et al., 2013 DNA SEQ MSH6_08586
9 c.3912G>T - p.R1304S 0.444 21.32 0.4102 Thompson et al., 2013 DNA SEQ MSH6_08587
9 c.3913C>A - p.L1305I 0.815 15.46 0.6196 Thompson et al., 2013 DNA SEQ MSH6_08588
9 c.3913C>G - p.L1305V 0.756 25.80 0.8020 Thompson et al., 2013 DNA SEQ MSH6_08589
9 c.3913C>T - p.L1305F 0.991 12.59 0.6838 Thompson et al., 2013 DNA SEQ MSH6_08590
9 c.3914T>A - p.L1305H 0.998 20.32 0.8685 Thompson et al., 2013 DNA SEQ MSH6_08591
9 c.3914T>C - p.L1305P 0.995 36.32 0.9606 Thompson et al., 2013 DNA SEQ MSH6_08592
9 c.3914T>G - p.L1305R 0.991 33.02 0.9507 Thompson et al., 2013 DNA SEQ MSH6_08593
9 c.3916G>A - p.A1306T 0.987 33.24 0.9506 Thompson et al., 2013 DNA SEQ MSH6_08594
9 c.3916G>C - p.A1306P 0.996 38.15 0.9647 Thompson et al., 2013 DNA SEQ MSH6_08595
9 c.3916G>T - p.A1306S 0.823 23.39 0.8118 Thompson et al., 2013 DNA SEQ MSH6_08596
9 c.3917C>A - p.A1306D 0.996 43.15 0.9731 Thompson et al., 2013 DNA SEQ MSH6_08597
9 c.3917C>G - p.A1306G 0.891 22.29 0.8378 Thompson et al., 2013 DNA SEQ MSH6_08598
9 c.3917C>T - p.A1306V 0.823 35.49 0.9174 Thompson et al., 2013 DNA SEQ MSH6_08599
9 c.3919A>C - p.N1307H 0.020 3.67 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08600
8501 - 8600
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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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