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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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9 c.3830A>C - p.D1277A 0.717 29.51 0.8231 Thompson et al., 2013 DNA SEQ MSH6_08401
9 c.3830A>G - p.D1277G 0.503 20.85 0.4595 Thompson et al., 2013 DNA SEQ MSH6_08402
9 c.3830A>T - p.D1277V 0.726 22.25 0.7181 Thompson et al., 2013 DNA SEQ MSH6_08403
9 c.3831C>A - p.D1277E 0.494 23.98 0.5291 Thompson et al., 2013 DNA SEQ MSH6_08404
9 c.3831C>G - p.D1277E 0.494 23.98 0.5291 Thompson et al., 2013 DNA SEQ MSH6_08405
9 c.3832C>A - p.P1278T 0.125 4.48 0.0052 Thompson et al., 2013 DNA SEQ MSH6_08406
9 c.3832C>G - p.P1278A 0.263 6.40 0.0205 Thompson et al., 2013 DNA SEQ MSH6_08407
9 c.3832C>T - p.P1278S 0.121 5.84 0.0092 Thompson et al., 2013 DNA SEQ MSH6_08408
9 c.3833C>A - p.P1278H 0.920 11.62 0.5712 Thompson et al., 2013 DNA SEQ MSH6_08409
9 c.3833C>G - p.P1278R 0.385 29.53 0.5312 Thompson et al., 2013 DNA SEQ MSH6_08410
9 c.3833C>T - p.P1278L 0.385 7.88 0.0535 Thompson et al., 2013 DNA SEQ MSH6_08411
9 c.3835A>C - p.S1279R 0.648 14.34 0.4027 Thompson et al., 2013 DNA SEQ MSH6_08412
9 c.3835A>G - p.S1279G 0.043 7.33 0.0110 Thompson et al., 2013 DNA SEQ MSH6_08413
9 c.3835A>T - p.S1279C 0.938 6.76 0.2961 Thompson et al., 2013 DNA SEQ MSH6_08414
9 c.3836G>A - p.S1279N 0.121 4.99 0.0065 Thompson et al., 2013 DNA SEQ MSH6_08415
9 c.3836G>C - p.S1279T 0.043 3.25 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08416
9 c.3836G>T - p.S1279I 0.621 13.86 0.3574 Thompson et al., 2013 DNA SEQ MSH6_08417
9 c.3837C>A - p.S1279R 0.648 14.34 0.4027 Thompson et al., 2013 DNA SEQ MSH6_08418
9 c.3837C>G - p.S1279R 0.648 14.34 0.4027 Thompson et al., 2013 DNA SEQ MSH6_08419
9 c.3838C>A - p.Q1280K 0.043 3.87 0.0026 Thompson et al., 2013 DNA SEQ MSH6_08420
9 c.3838C>G - p.Q1280E 0.070 14.65 0.0569 Thompson et al., 2013 DNA SEQ MSH6_08421
9 c.3839A>C - p.Q1280P 0.298 44.39 0.6637 Thompson et al., 2013 DNA SEQ MSH6_08422
9 c.3839A>G - p.Q1280R 0.263 6.56 0.0217 Thompson et al., 2013 DNA SEQ MSH6_08423
9 c.3839A>T - p.Q1280L 0.043 26.30 0.1687 Thompson et al., 2013 DNA SEQ MSH6_08424
9 c.3840G>C - p.Q1280H 0.428 12.81 0.1697 Thompson et al., 2013 DNA SEQ MSH6_08425
9 c.3840G>T - p.Q1280H 0.428 12.81 0.1697 Thompson et al., 2013 DNA SEQ MSH6_08426
9 c.3841G>A - p.E1281K 0.277 19.98 0.2276 Thompson et al., 2013 DNA SEQ MSH6_08427
9 c.3841G>C - p.E1281Q 0.636 13.20 0.3467 Thompson et al., 2013 DNA SEQ MSH6_08428
9 c.3842A>C - p.E1281A 0.927 24.45 0.8814 Thompson et al., 2013 DNA SEQ MSH6_08429
9 c.3842A>G - p.E1281G 0.541 28.23 0.6654 Thompson et al., 2013 DNA SEQ MSH6_08430
9 c.3842A>T - p.E1281V 0.920 31.34 0.9268 Thompson et al., 2013 DNA SEQ MSH6_08431
9 c.3843G>C - p.E1281D 0.541 13.31 0.2651 Thompson et al., 2013 DNA SEQ MSH6_08432
9 c.3843G>T - p.E1281D 0.541 13.31 0.2651 Thompson et al., 2013 DNA SEQ MSH6_08433
9 c.3844A>C - p.T1282P 0.894 43.72 0.9602 Thompson et al., 2013 DNA SEQ MSH6_08434
9 c.3844A>G - p.T1282A 0.263 37.99 0.5442 Thompson et al., 2013 DNA SEQ MSH6_08435
9 c.3844A>T - p.T1282S 0.075 11.33 0.0332 Thompson et al., 2013 DNA SEQ MSH6_08436
9 c.3845C>A - p.T1282N 0.070 20.18 0.1109 Thompson et al., 2013 DNA SEQ MSH6_08437
9 c.3845C>G - p.T1282S 0.075 11.33 0.0332 Thompson et al., 2013 DNA SEQ MSH6_08438
9 c.3845C>T - p.T1282I 0.833 33.48 0.9104 Thompson et al., 2013 DNA SEQ MSH6_08439
9 c.3847A>C - p.I1283L 0.299 5.19 0.0149 Thompson et al., 2013 DNA SEQ MSH6_08440
9 c.3847A>G - p.I1283V 0.103 10.10 0.0290 Thompson et al., 2013 DNA SEQ MSH6_08441
9 c.3847A>T - p.I1283F 0.973 9.44 0.5103 Thompson et al., 2013 DNA SEQ MSH6_08442
9 c.3848T>A - p.I1283N 0.988 22.03 0.8838 Thompson et al., 2013 DNA SEQ MSH6_08443
9 c.3848T>C - p.I1283T 0.940 21.66 0.8564 Thompson et al., 2013 DNA SEQ MSH6_08444
9 c.3848T>G - p.I1283S 0.956 24.65 0.8954 Thompson et al., 2013 DNA SEQ MSH6_08445
9 c.3849T>G - p.I1283M 0.966 12.07 0.6386 Thompson et al., 2013 DNA SEQ MSH6_08446
9 c.3850A>C - p.T1284P 0.992 43.72 0.9734 Thompson et al., 2013 DNA SEQ MSH6_08447
9 c.3850A>G - p.T1284A 0.840 37.99 0.9331 Thompson et al., 2013 DNA SEQ MSH6_08448
9 c.3850A>T - p.T1284S 0.977 11.33 0.6159 Thompson et al., 2013 DNA SEQ MSH6_08449
9 c.3851C>A - p.T1284K 0.903 34.43 0.9358 Thompson et al., 2013 DNA SEQ MSH6_08450
9 c.3851C>G - p.T1284R 0.987 37.76 0.9626 Thompson et al., 2013 DNA SEQ MSH6_08451
9 c.3851C>T - p.T1284M 0.984 29.50 0.9355 Thompson et al., 2013 DNA SEQ MSH6_08452
9 c.3853T>A - p.F1285I 0.998 10.86 0.6143 Thompson et al., 2013 DNA SEQ MSH6_08453
9 c.3853T>C - p.F1285L 0.996 12.82 0.6971 Thompson et al., 2013 DNA SEQ MSH6_08454
9 c.3853T>G - p.F1285V 0.999 17.61 0.8274 Thompson et al., 2013 DNA SEQ MSH6_08455
9 c.3854T>A - p.F1285Y 0.991 16.28 0.7949 Thompson et al., 2013 DNA SEQ MSH6_08456
9 c.3854T>C - p.F1285S 1.000 19.43 0.8575 Thompson et al., 2013 DNA SEQ MSH6_08457
9 c.3854T>G - p.F1285C 1.000 17.91 0.8334 Thompson et al., 2013 DNA SEQ MSH6_08458
9 c.3855C>A - p.F1285L 0.996 12.82 0.6971 Thompson et al., 2013 DNA SEQ MSH6_08459
9 c.3855C>G - p.F1285L 0.996 12.82 0.6971 Thompson et al., 2013 DNA SEQ MSH6_08460
9 c.3856C>A - p.L1286I 0.998 15.46 0.7803 Thompson et al., 2013 DNA SEQ MSH6_08461
9 c.3856C>G - p.L1286V 0.994 25.80 0.9178 Thompson et al., 2013 DNA SEQ MSH6_08462
9 c.3856C>T - p.L1286F 0.998 12.59 0.6902 Thompson et al., 2013 DNA SEQ MSH6_08463
9 c.3857T>A - p.L1286H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_08464
9 c.3857T>C - p.L1286P 0.999 36.32 0.9612 Thompson et al., 2013 DNA SEQ MSH6_08465
9 c.3857T>G - p.L1286R 0.994 33.02 0.9513 Thompson et al., 2013 DNA SEQ MSH6_08466
9 c.3859T>A - p.Y1287N 1.000 17.86 0.8325 Thompson et al., 2013 DNA SEQ MSH6_08467
9 c.3859T>C - p.Y1287H 1.000 16.52 0.8063 Thompson et al., 2013 DNA SEQ MSH6_08468
9 c.3859T>G - p.Y1287D 1.000 35.81 0.9602 Thompson et al., 2013 DNA SEQ MSH6_08469
9 c.3860A>C - p.Y1287S 1.000 18.59 0.8448 Thompson et al., 2013 DNA SEQ MSH6_08470
9 c.3860A>G - p.Y1287C 1.000 23.02 0.8984 Thompson et al., 2013 DNA SEQ MSH6_08471
9 c.3860A>T - p.Y1287F 0.991 22.82 0.8930 Thompson et al., 2013 DNA SEQ MSH6_08472
9 c.3862A>C - p.K1288Q 0.767 14.08 0.5177 Thompson et al., 2013 DNA SEQ MSH6_08473
9 c.3862A>G - p.K1288E 0.690 23.70 0.7161 Thompson et al., 2013 DNA SEQ MSH6_08474
9 c.3863A>C - p.K1288T 0.568 27.99 0.6863 Thompson et al., 2013 DNA SEQ MSH6_08475
9 c.3863A>G - p.K1288R 0.559 7.31 0.0909 Thompson et al., 2013 DNA SEQ MSH6_08476
9 c.3863A>T - p.K1288I 0.979 25.96 0.9140 Thompson et al., 2013 DNA SEQ MSH6_08477
9 c.3864A>C - p.K1288N 0.984 14.55 0.7446 Thompson et al., 2013 DNA SEQ MSH6_08478
9 c.3864A>T - p.K1288N 0.984 14.55 0.7446 Thompson et al., 2013 DNA SEQ MSH6_08479
9 c.3865T>A - p.F1289I 0.259 7.94 0.0325 Thompson et al., 2013 DNA SEQ MSH6_08480
9 c.3865T>C - p.F1289L 0.025 7.29 0.0101 Thompson et al., 2013 DNA SEQ MSH6_08481
9 c.3865T>G - p.F1289V 0.123 12.60 0.0510 Thompson et al., 2013 DNA SEQ MSH6_08482
9 c.3866T>A - p.F1289Y 0.108 13.39 0.0547 Thompson et al., 2013 DNA SEQ MSH6_08483
9 c.3866T>C - p.F1289S 0.824 13.38 0.5494 Thompson et al., 2013 DNA SEQ MSH6_08484
9 c.3866T>G - p.F1289C 0.939 11.73 0.5961 Thompson et al., 2013 DNA SEQ MSH6_08485
9 c.3867C>A - p.F1289L 0.025 7.29 0.0101 Thompson et al., 2013 DNA SEQ MSH6_08486
9 c.3867C>G - p.F1289L 0.025 7.29 0.0101 Thompson et al., 2013 DNA SEQ MSH6_08487
9 c.3868A>C - p.I1290L 0.138 3.52 0.0032 Thompson et al., 2013 DNA SEQ MSH6_08488
9 c.3868A>G - p.I1290V 0.006 2.13 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08489
9 c.3868A>T - p.I1290F 0.665 5.27 0.0695 Thompson et al., 2013 DNA SEQ MSH6_08490
9 c.3869T>A - p.I1290N 0.643 13.21 0.3539 Thompson et al., 2013 DNA SEQ MSH6_08491
9 c.3869T>C - p.I1290T 0.029 8.29 0.0137 Thompson et al., 2013 DNA SEQ MSH6_08492
9 c.3869T>G - p.I1290S 0.086 7.48 0.0138 Thompson et al., 2013 DNA SEQ MSH6_08493
9 c.3870T>G - p.I1290M 0.648 7.74 0.1426 Thompson et al., 2013 DNA SEQ MSH6_08494
9 c.3871A>C - p.K1291Q 0.055 2.07 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08495
9 c.3871A>G - p.K1291E 0.004 2.76 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08496
9 c.3872A>C - p.K1291T 0.038 5.67 0.0061 Thompson et al., 2013 DNA SEQ MSH6_08497
9 c.3872A>G - p.K1291R 0.007 2.53 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08498
9 c.3872A>T - p.K1291M 0.403 3.04 0.0070 Thompson et al., 2013 DNA SEQ MSH6_08499
9 c.3873G>C - p.K1291N 0.006 2.17 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08500
8401 - 8500
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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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