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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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6 c.3464A>C - p.Q1155P 0.998 39.94 0.9684 Thompson et al., 2013 DNA SEQ MSH6_07601
6 c.3464A>G - p.Q1155R 0.998 33.70 0.9542 Thompson et al., 2013 DNA SEQ MSH6_07602
6 c.3464A>T - p.Q1155L 0.998 19.88 0.8627 Thompson et al., 2013 DNA SEQ MSH6_07603
6 c.3465G>C - p.Q1155H 0.904 14.36 0.6680 Thompson et al., 2013 DNA SEQ MSH6_07604
6 c.3465G>T - p.Q1155H 0.904 14.36 0.6680 Thompson et al., 2013 DNA SEQ MSH6_07605
6 c.3466A>C - p.M1156L 0.000 1.12 0.0001 Thompson et al., 2013 DNA SEQ MSH6_07606
6 c.3466A>G - p.M1156V 0.000 24.99 0.1308 Thompson et al., 2013 DNA SEQ MSH6_07607
6 c.3466A>T - p.M1156L 0.000 1.12 0.0001 Thompson et al., 2013 DNA SEQ MSH6_07608
6 c.3467T>A - p.M1156K 0.063 31.73 0.2528 Thompson et al., 2013 DNA SEQ MSH6_07609
6 c.3467T>C - p.M1156T 0.002 21.68 0.0990 Thompson et al., 2013 DNA SEQ MSH6_07610
6 c.3467T>G - p.M1156R 0.154 37.53 0.4219 Thompson et al., 2013 DNA SEQ MSH6_07611
6 c.3468G>A - p.M1156I 0.001 15.27 0.0471 Thompson et al., 2013 DNA SEQ MSH6_07612
6 c.3468G>C - p.M1156I 0.001 15.27 0.0471 Thompson et al., 2013 DNA SEQ MSH6_07613
6 c.3468G>T - p.M1156I 0.001 15.27 0.0471 Thompson et al., 2013 DNA SEQ MSH6_07614
6 c.3469G>A - p.G1157S 1.000 7.50 0.4095 Thompson et al., 2013 DNA SEQ MSH6_07615
6 c.3469G>C - p.G1157R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_07616
6 c.3469G>T - p.G1157C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_07617
6 c.3470G>A - p.G1157D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ MSH6_07618
6 c.3470G>C - p.G1157A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ MSH6_07619
6 c.3470G>T - p.G1157V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_07620
6 c.3472T>A - p.C1158S 0.190 14.04 0.0837 Thompson et al., 2013 DNA SEQ MSH6_07621
6 c.3472T>C - p.C1158R 0.984 34.86 0.9549 Thompson et al., 2013 DNA SEQ MSH6_07622
6 c.3472T>G - p.C1158G 0.568 15.41 0.3608 Thompson et al., 2013 DNA SEQ MSH6_07623
6 c.3473G>A - p.C1158Y 0.988 21.23 0.8749 Thompson et al., 2013 DNA SEQ MSH6_07624
6 c.3473G>C - p.C1158S 0.190 14.04 0.0837 Thompson et al., 2013 DNA SEQ MSH6_07625
6 c.3473G>T - p.C1158F 0.979 21.32 0.8717 Thompson et al., 2013 DNA SEQ MSH6_07626
6 c.3474T>G - p.C1158W 0.996 32.95 0.9515 Thompson et al., 2013 DNA SEQ MSH6_07627
6 c.3475T>A - p.Y1159N 0.417 17.86 0.2931 Thompson et al., 2013 DNA SEQ MSH6_07628
6 c.3475T>C - p.Y1159H 0.223 16.52 0.1320 Thompson et al., 2013 DNA SEQ MSH6_07629
6 c.3475T>G - p.Y1159D 0.326 35.81 0.5772 Thompson et al., 2013 DNA SEQ MSH6_07630
6 c.3476A>C - p.Y1159S 0.326 18.59 0.2356 Thompson et al., 2013 DNA SEQ MSH6_07631
6 c.3476A>G - p.Y1159C 0.698 23.02 0.7095 Thompson et al., 2013 DNA SEQ MSH6_07632
6 c.3476A>T - p.Y1159F 0.024 22.82 0.1194 Thompson et al., 2013 DNA SEQ MSH6_07633
6 c.3478G>A - p.V1160I 0.218 11.96 0.0667 Thompson et al., 2013 DNA SEQ MSH6_07634
6 c.3478G>C - p.V1160L 0.362 20.81 0.3170 Thompson et al., 2013 DNA SEQ MSH6_07635
6 c.3478G>T - p.V1160F 0.925 21.09 0.8404 Thompson et al., 2013 DNA SEQ MSH6_07636
6 c.3479T>A - p.V1160D 0.953 33.13 0.9430 Thompson et al., 2013 DNA SEQ MSH6_07637
6 c.3479T>C - p.V1160A 0.871 27.75 0.8864 Thompson et al., 2013 DNA SEQ MSH6_07638
6 c.3479T>G - p.V1160G 0.972 23.22 0.8889 Thompson et al., 2013 DNA SEQ MSH6_07639
6 c.3481C>A - p.P1161T 0.997 17.77 0.8291 Thompson et al., 2013 DNA SEQ MSH6_07640
6 c.3481C>G - p.P1161A 0.999 20.00 0.8648 Thompson et al., 2013 DNA SEQ MSH6_07641
6 c.3481C>T - p.P1161S 0.994 17.50 0.8222 Thompson et al., 2013 DNA SEQ MSH6_07642
6 c.3482C>A - p.P1161H 1.000 19.31 0.8558 Thompson et al., 2013 DNA SEQ MSH6_07643
6 c.3482C>G - p.P1161R 1.000 41.48 0.9711 Thompson et al., 2013 DNA SEQ MSH6_07644
6 c.3482C>T - p.P1161L 1.000 26.92 0.9265 Thompson et al., 2013 DNA SEQ MSH6_07645
6 c.3484G>A - p.A1162T 0.996 33.24 0.9524 Thompson et al., 2013 DNA SEQ MSH6_07646
6 c.3484G>C - p.A1162P 0.999 38.15 0.9652 Thompson et al., 2013 DNA SEQ MSH6_07647
6 c.3484G>T - p.A1162S 0.959 23.39 0.8850 Thompson et al., 2013 DNA SEQ MSH6_07648
6 c.3485C>A - p.A1162D 0.999 43.15 0.9734 Thompson et al., 2013 DNA SEQ MSH6_07649
6 c.3485C>G - p.A1162G 0.984 22.29 0.8848 Thompson et al., 2013 DNA SEQ MSH6_07650
6 c.3485C>T - p.A1162V 0.997 35.49 0.9589 Thompson et al., 2013 DNA SEQ MSH6_07651
6 c.3487G>A - p.E1163K 0.035 9.60 0.0195 Thompson et al., 2013 DNA SEQ MSH6_07652
6 c.3487G>C - p.E1163Q 0.159 5.55 0.0096 Thompson et al., 2013 DNA SEQ MSH6_07653
6 c.3488A>C - p.E1163A 0.083 22.05 0.1389 Thompson et al., 2013 DNA SEQ MSH6_07654
6 c.3488A>G - p.E1163G 0.422 22.40 0.4147 Thompson et al., 2013 DNA SEQ MSH6_07655
6 c.3488A>T - p.E1163V 0.030 34.18 0.2582 Thompson et al., 2013 DNA SEQ MSH6_07656
6 c.3489A>C - p.E1163D 0.052 9.06 0.0184 Thompson et al., 2013 DNA SEQ MSH6_07657
6 c.3489A>T - p.E1163D 0.052 9.06 0.0184 Thompson et al., 2013 DNA SEQ MSH6_07658
6 c.3490G>A - p.V1164M 0.032 3.70 0.0023 Thompson et al., 2013 DNA SEQ MSH6_07659
6 c.3490G>C - p.V1164L 0.000 3.15 0.0014 Thompson et al., 2013 DNA SEQ MSH6_07660
6 c.3490G>T - p.V1164L 0.000 3.15 0.0014 Thompson et al., 2013 DNA SEQ MSH6_07661
6 c.3491T>A - p.V1164E 0.001 8.79 0.0139 Thompson et al., 2013 DNA SEQ MSH6_07662
6 c.3491T>C - p.V1164A 0.000 3.61 0.0019 Thompson et al., 2013 DNA SEQ MSH6_07663
6 c.3491T>G - p.V1164G 0.000 1.98 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07664
6 c.3493T>A - p.C1165S 0.326 11.22 0.0892 Thompson et al., 2013 DNA SEQ MSH6_07665
6 c.3493T>C - p.C1165R 0.886 33.57 0.9276 Thompson et al., 2013 DNA SEQ MSH6_07666
6 c.3493T>G - p.C1165G 0.756 15.04 0.5434 Thompson et al., 2013 DNA SEQ MSH6_07667
6 c.3494G>A - p.C1165Y 0.825 12.77 0.5241 Thompson et al., 2013 DNA SEQ MSH6_07668
6 c.3494G>C - p.C1165S 0.326 11.22 0.0892 Thompson et al., 2013 DNA SEQ MSH6_07669
6 c.3494G>T - p.C1165F 0.085 7.09 0.0122 Thompson et al., 2013 DNA SEQ MSH6_07670
6 c.3495C>G - p.C1165W 0.946 14.54 0.7123 Thompson et al., 2013 DNA SEQ MSH6_07671
6 c.3496A>G - p.R1166G 0.375 12.53 0.1343 Thompson et al., 2013 DNA SEQ MSH6_07672
6 c.3496A>T - p.R1166W 0.853 9.65 0.3965 Thompson et al., 2013 DNA SEQ MSH6_07673
6 c.3497G>A - p.R1166K 0.013 2.80 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07674
6 c.3497G>C - p.R1166T 0.013 9.64 0.0180 Thompson et al., 2013 DNA SEQ MSH6_07675
6 c.3497G>T - p.R1166M 0.605 14.68 0.3718 Thompson et al., 2013 DNA SEQ MSH6_07676
6 c.3498G>C - p.R1166S 0.069 9.50 0.0220 Thompson et al., 2013 DNA SEQ MSH6_07677
6 c.3498G>T - p.R1166S 0.069 9.50 0.0220 Thompson et al., 2013 DNA SEQ MSH6_07678
6 c.3499C>A - p.L1167I 0.369 10.58 0.0934 Thompson et al., 2013 DNA SEQ MSH6_07679
6 c.3499C>G - p.L1167V 0.145 17.49 0.1104 Thompson et al., 2013 DNA SEQ MSH6_07680
6 c.3499C>T - p.L1167F 0.145 7.74 0.0191 Thompson et al., 2013 DNA SEQ MSH6_07681
6 c.3500T>A - p.L1167H 0.972 15.31 0.7567 Thompson et al., 2013 DNA SEQ MSH6_07682
6 c.3500T>C - p.L1167P 0.954 24.65 0.8946 Thompson et al., 2013 DNA SEQ MSH6_07683
6 c.3500T>G - p.L1167R 0.954 35.76 0.9518 Thompson et al., 2013 DNA SEQ MSH6_07684
6 c.3502A>C - p.T1168P 0.950 43.72 0.9684 Thompson et al., 2013 DNA SEQ MSH6_07685
6 c.3502A>G - p.T1168A 0.636 37.99 0.8540 Thompson et al., 2013 DNA SEQ MSH6_07686
6 c.3502A>T - p.T1168S 0.111 11.33 0.0385 Thompson et al., 2013 DNA SEQ MSH6_07687
6 c.3503C>A - p.T1168K 0.893 34.43 0.9332 Thompson et al., 2013 DNA SEQ MSH6_07688
6 c.3503C>G - p.T1168R 0.970 37.76 0.9599 Thompson et al., 2013 DNA SEQ MSH6_07689
6 c.3503C>T - p.T1168I 0.676 33.48 0.8388 Thompson et al., 2013 DNA SEQ MSH6_07690
6 c.3505C>A - p.P1169T 0.752 17.77 0.6308 Thompson et al., 2013 DNA SEQ MSH6_07691
6 c.3505C>G - p.P1169A 0.717 20.00 0.6581 Thompson et al., 2013 DNA SEQ MSH6_07692
6 c.3505C>T - p.P1169S 0.924 17.50 0.7744 Thompson et al., 2013 DNA SEQ MSH6_07693
6 c.3506C>A - p.P1169Q 0.984 17.67 0.8192 Thompson et al., 2013 DNA SEQ MSH6_07694
6 c.3506C>G - p.P1169R 0.984 41.48 0.9692 Thompson et al., 2013 DNA SEQ MSH6_07695
6 c.3506C>T - p.P1169L 0.247 26.92 0.3378 Thompson et al., 2013 DNA SEQ MSH6_07696
6 c.3508A>C - p.I1170L 0.007 8.14 0.0120 Thompson et al., 2013 DNA SEQ MSH6_07697
6 c.3508A>G - p.I1170V 0.000 1.31 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07698
6 c.3508A>T - p.I1170F 0.037 7.74 0.0122 Thompson et al., 2013 DNA SEQ MSH6_07699
6 c.3509T>A - p.I1170N 0.519 11.45 0.1893 Thompson et al., 2013 DNA SEQ MSH6_07700
7601 - 7700
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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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