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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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MAPP score Hide MAPP score column Descending
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5 c.3416G>C - p.G1139A 0.996 22.05 0.8874 Thompson et al., 2013 DNA SEQ MSH6_07501
5 c.3416G>T - p.G1139V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_07502
5 c.3418A>C - p.K1140Q 1.000 14.08 0.7434 Thompson et al., 2013 DNA SEQ MSH6_07503
5 c.3418A>G - p.K1140E 0.999 23.70 0.9039 Thompson et al., 2013 DNA SEQ MSH6_07504
5 c.3419A>C - p.K1140T 0.999 27.99 0.9321 Thompson et al., 2013 DNA SEQ MSH6_07505
5 c.3419A>G - p.K1140R 0.999 7.31 0.3944 Thompson et al., 2013 DNA SEQ MSH6_07506
5 c.3419A>T - p.K1140M 1.000 17.24 0.8210 Thompson et al., 2013 DNA SEQ MSH6_07507
5 c.3420G>C - p.K1140N 1.000 14.55 0.7573 Thompson et al., 2013 DNA SEQ MSH6_07508
5 c.3420G>T - p.K1140N 1.000 14.55 0.7573 Thompson et al., 2013 DNA SEQ MSH6_07509
5 c.3421T>A - p.S1141T 0.999 13.44 0.7219 Thompson et al., 2013 DNA SEQ MSH6_07510
5 c.3421T>C - p.S1141P 1.000 39.26 0.9674 Thompson et al., 2013 DNA SEQ MSH6_07511
5 c.3421T>G - p.S1141A 0.999 28.89 0.9365 Thompson et al., 2013 DNA SEQ MSH6_07512
5 c.3422C>A - p.S1141Y 1.000 23.48 0.9024 Thompson et al., 2013 DNA SEQ MSH6_07513
5 c.3422C>G - p.S1141C 1.000 20.41 0.8706 Thompson et al., 2013 DNA SEQ MSH6_07514
5 c.3422C>T - p.S1141F 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_07515
5 c.3424A>C - p.T1142P 0.998 43.72 0.9741 Thompson et al., 2013 DNA SEQ MSH6_07516
5 c.3424A>G - p.T1142A 0.996 37.99 0.9644 Thompson et al., 2013 DNA SEQ MSH6_07517
5 c.3424A>T - p.T1142S 0.868 11.33 0.5020 Thompson et al., 2013 DNA SEQ MSH6_07518
5 c.3425C>A - p.T1142K 0.995 34.43 0.9557 Thompson et al., 2013 DNA SEQ MSH6_07519
5 c.3425C>G - p.T1142R 0.988 37.76 0.9627 Thompson et al., 2013 DNA SEQ MSH6_07520
5 c.3425C>T - p.T1142M 0.998 29.50 0.9390 Thompson et al., 2013 DNA SEQ MSH6_07521
5 c.3427C>A - p.L1143I 0.652 15.46 0.4485 Thompson et al., 2013 DNA SEQ MSH6_07522
5 c.3427C>G - p.L1143V 0.428 25.80 0.5004 Thompson et al., 2013 DNA SEQ MSH6_07523
5 c.3427C>T - p.L1143F 0.690 12.59 0.3750 Thompson et al., 2013 DNA SEQ MSH6_07524
5 c.3428T>A - p.L1143H 0.988 20.32 0.8636 Thompson et al., 2013 DNA SEQ MSH6_07525
5 c.3428T>C - p.L1143P 0.988 36.32 0.9594 Thompson et al., 2013 DNA SEQ MSH6_07526
5 c.3428T>G - p.L1143R 0.988 33.02 0.9501 Thompson et al., 2013 DNA SEQ MSH6_07527
5 c.3430A>C - p.M1144L 0.001 6.72 0.0076 Thompson et al., 2013 DNA SEQ MSH6_07528
5 c.3430A>G - p.M1144V 0.013 19.10 0.0795 Thompson et al., 2013 DNA SEQ MSH6_07529
5 c.3430A>T - p.M1144L 0.001 6.72 0.0076 Thompson et al., 2013 DNA SEQ MSH6_07530
5 c.3431T>A - p.M1144K 0.440 32.69 0.6434 Thompson et al., 2013 DNA SEQ MSH6_07531
5 c.3431T>C - p.M1144T 0.063 20.83 0.1152 Thompson et al., 2013 DNA SEQ MSH6_07532
5 c.3431T>G - p.M1144R 0.519 39.37 0.7939 Thompson et al., 2013 DNA SEQ MSH6_07533
5 c.3432G>A - p.M1144I 0.006 11.55 0.0261 Thompson et al., 2013 DNA SEQ MSH6_07534
5 c.3432G>C - p.M1144I 0.006 11.55 0.0261 Thompson et al., 2013 DNA SEQ MSH6_07535
5 c.3432G>T - p.M1144I 0.006 11.55 0.0261 Thompson et al., 2013 DNA SEQ MSH6_07536
5 c.3433A>G - p.R1145G 1.000 25.90 0.9204 Thompson et al., 2013 DNA SEQ MSH6_07537
5 c.3434G>A - p.R1145K 0.989 6.07 0.2904 Thompson et al., 2013 DNA SEQ MSH6_07538
5 c.3434G>C - p.R1145T 1.000 26.48 0.9240 Thompson et al., 2013 DNA SEQ MSH6_07539
5 c.3434G>T - p.R1145I 1.000 26.94 0.9267 Thompson et al., 2013 DNA SEQ MSH6_07540
5 c.3435A>C - p.R1145S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_07541
5 c.3435A>T - p.R1145S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_07542
5 c.3436C>A - p.Q1146K 0.940 27.25 0.9094 Thompson et al., 2013 DNA SEQ MSH6_07543
5 c.3436C>G - p.Q1146E 0.690 26.89 0.7706 Thompson et al., 2013 DNA SEQ MSH6_07544
5 c.3437A>C - p.Q1146P 0.984 39.94 0.9665 Thompson et al., 2013 DNA SEQ MSH6_07545
5 c.3437A>G - p.Q1146R 0.984 33.70 0.9515 Thompson et al., 2013 DNA SEQ MSH6_07546
5 c.3437A>T - p.Q1146L 0.690 19.88 0.6286 Thompson et al., 2013 DNA SEQ MSH6_07547
5 c.3438G>C - p.Q1146H 0.988 14.36 0.7422 Thompson et al., 2013 DNA SEQ MSH6_07548
5 c.3438G>T - p.Q1146H 0.988 14.36 0.7422 Thompson et al., 2013 DNA SEQ MSH6_07549
6 c.3439G>A - p.A1147T 0.010 5.94 0.0060 Thompson et al., 2013 DNA SEQ MSH6_07550
6 c.3439G>C - p.A1147P 0.767 11.43 0.4008 Thompson et al., 2013 DNA SEQ MSH6_07551
6 c.3439G>T - p.A1147S 0.083 5.44 0.0067 Thompson et al., 2013 DNA SEQ MSH6_07552
6 c.3440C>A - p.A1147D 0.752 38.96 0.9103 Thompson et al., 2013 DNA SEQ MSH6_07553
6 c.3440C>G - p.A1147G 0.293 6.07 0.0207 Thompson et al., 2013 DNA SEQ MSH6_07554
6 c.3440C>T - p.A1147V 0.002 2.80 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07555
6 c.3442G>A - p.G1148S 0.541 7.50 0.0894 Thompson et al., 2013 DNA SEQ MSH6_07556
6 c.3442G>C - p.G1148R 0.970 36.52 0.9569 Thompson et al., 2013 DNA SEQ MSH6_07557
6 c.3442G>T - p.G1148C 0.111 19.13 0.1163 Thompson et al., 2013 DNA SEQ MSH6_07558
6 c.3443G>A - p.G1148D 0.970 35.86 0.9551 Thompson et al., 2013 DNA SEQ MSH6_07559
6 c.3443G>C - p.G1148A 0.238 22.05 0.2379 Thompson et al., 2013 DNA SEQ MSH6_07560
6 c.3443G>T - p.G1148V 0.883 29.36 0.9032 Thompson et al., 2013 DNA SEQ MSH6_07561
6 c.3445T>A - p.L1149I 0.433 5.45 0.0291 Thompson et al., 2013 DNA SEQ MSH6_07562
6 c.3445T>G - p.L1149V 0.181 14.19 0.0826 Thompson et al., 2013 DNA SEQ MSH6_07563
6 c.3446T>C - p.L1149S 0.958 26.89 0.9132 Thompson et al., 2013 DNA SEQ MSH6_07564
6 c.3447A>C - p.L1149F 0.980 9.49 0.5207 Thompson et al., 2013 DNA SEQ MSH6_07565
6 c.3447A>T - p.L1149F 0.980 9.49 0.5207 Thompson et al., 2013 DNA SEQ MSH6_07566
6 c.3448T>A - p.L1150I 0.033 0.78 0.0001 Thompson et al., 2013 DNA SEQ MSH6_07567
6 c.3448T>G - p.L1150V 0.013 3.86 0.0023 Thompson et al., 2013 DNA SEQ MSH6_07568
6 c.3449T>C - p.L1150S 0.058 7.63 0.0129 Thompson et al., 2013 DNA SEQ MSH6_07569
6 c.3450A>C - p.L1150F 0.647 4.08 0.0373 Thompson et al., 2013 DNA SEQ MSH6_07570
6 c.3450A>T - p.L1150F 0.647 4.08 0.0373 Thompson et al., 2013 DNA SEQ MSH6_07571
6 c.3451G>A - p.A1151T 0.006 2.88 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07572
6 c.3451G>C - p.A1151P 0.538 11.64 0.2081 Thompson et al., 2013 DNA SEQ MSH6_07573
6 c.3451G>T - p.A1151S 0.107 3.22 0.0023 Thompson et al., 2013 DNA SEQ MSH6_07574
6 c.3452C>A - p.A1151D 0.704 35.37 0.8692 Thompson et al., 2013 DNA SEQ MSH6_07575
6 c.3452C>G - p.A1151G 0.434 4.62 0.0203 Thompson et al., 2013 DNA SEQ MSH6_07576
6 c.3452C>T - p.A1151V 0.003 0.96 0.0001 Thompson et al., 2013 DNA SEQ MSH6_07577
6 c.3454G>A - p.V1152I 0.001 2.15 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07578
6 c.3454G>C - p.V1152L 0.007 10.64 0.0218 Thompson et al., 2013 DNA SEQ MSH6_07579
6 c.3454G>T - p.V1152L 0.007 10.64 0.0218 Thompson et al., 2013 DNA SEQ MSH6_07580
6 c.3455T>A - p.V1152E 0.535 29.00 0.6732 Thompson et al., 2013 DNA SEQ MSH6_07581
6 c.3455T>C - p.V1152A 0.157 18.86 0.1342 Thompson et al., 2013 DNA SEQ MSH6_07582
6 c.3455T>G - p.V1152G 0.660 14.26 0.4119 Thompson et al., 2013 DNA SEQ MSH6_07583
6 c.3457A>C - p.M1153L 0.109 4.04 0.0038 Thompson et al., 2013 DNA SEQ MSH6_07584
6 c.3457A>G - p.M1153V 0.860 13.99 0.6113 Thompson et al., 2013 DNA SEQ MSH6_07585
6 c.3457A>T - p.M1153L 0.109 4.04 0.0038 Thompson et al., 2013 DNA SEQ MSH6_07586
6 c.3458T>A - p.M1153K 0.985 33.86 0.9522 Thompson et al., 2013 DNA SEQ MSH6_07587
6 c.3458T>C - p.M1153T 0.974 18.42 0.8267 Thompson et al., 2013 DNA SEQ MSH6_07588
6 c.3458T>G - p.M1153R 0.980 40.95 0.9678 Thompson et al., 2013 DNA SEQ MSH6_07589
6 c.3459G>A - p.M1153I 0.702 6.96 0.1412 Thompson et al., 2013 DNA SEQ MSH6_07590
6 c.3459G>C - p.M1153I 0.702 6.96 0.1412 Thompson et al., 2013 DNA SEQ MSH6_07591
6 c.3459G>T - p.M1153I 0.702 6.96 0.1412 Thompson et al., 2013 DNA SEQ MSH6_07592
6 c.3460G>A - p.A1154T 0.994 33.24 0.9520 Thompson et al., 2013 DNA SEQ MSH6_07593
6 c.3460G>C - p.A1154P 0.997 38.15 0.9649 Thompson et al., 2013 DNA SEQ MSH6_07594
6 c.3460G>T - p.A1154S 0.904 23.39 0.8590 Thompson et al., 2013 DNA SEQ MSH6_07595
6 c.3461C>A - p.A1154D 0.998 43.15 0.9733 Thompson et al., 2013 DNA SEQ MSH6_07596
6 c.3461C>G - p.A1154G 0.941 22.29 0.8647 Thompson et al., 2013 DNA SEQ MSH6_07597
6 c.3461C>T - p.A1154V 0.994 35.49 0.9584 Thompson et al., 2013 DNA SEQ MSH6_07598
6 c.3463C>A - p.Q1155K 0.996 27.25 0.9273 Thompson et al., 2013 DNA SEQ MSH6_07599
6 c.3463C>G - p.Q1155E 0.997 26.89 0.9255 Thompson et al., 2013 DNA SEQ MSH6_07600
7501 - 7600
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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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