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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.3053T>A - p.L1018H 0.965 14.05 0.7129 Thompson et al., 2013 DNA SEQ MSH6_06701
4 c.3053T>C - p.L1018P 0.943 35.25 0.9480 Thompson et al., 2013 DNA SEQ MSH6_06702
4 c.3053T>G - p.L1018R 0.535 36.30 0.7743 Thompson et al., 2013 DNA SEQ MSH6_06703
4 c.3055A>C - p.I1019L 0.001 2.25 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06704
4 c.3055A>G - p.I1019V 0.000 3.16 0.0014 Thompson et al., 2013 DNA SEQ MSH6_06705
4 c.3055A>T - p.I1019L 0.001 2.25 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06706
4 c.3056T>A - p.I1019K 0.001 3.58 0.0018 Thompson et al., 2013 DNA SEQ MSH6_06707
4 c.3056T>C - p.I1019T 0.001 2.88 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06708
4 c.3056T>G - p.I1019R 0.004 4.07 0.0025 Thompson et al., 2013 DNA SEQ MSH6_06709
4 c.3057A>G - p.I1019M 0.001 1.85 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06710
4 c.3058A>C - p.N1020H 0.086 4.60 0.0046 Thompson et al., 2013 DNA SEQ MSH6_06711
4 c.3058A>G - p.N1020D 0.051 2.53 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06712
4 c.3058A>T - p.N1020Y 0.086 7.69 0.0147 Thompson et al., 2013 DNA SEQ MSH6_06713
4 c.3059A>C - p.N1020T 0.051 5.84 0.0068 Thompson et al., 2013 DNA SEQ MSH6_06714
4 c.3059A>G - p.N1020S 0.026 4.40 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06715
4 c.3059A>T - p.N1020I 0.191 13.82 0.0813 Thompson et al., 2013 DNA SEQ MSH6_06716
4 c.3060T>A - p.N1020K 0.029 4.34 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06717
4 c.3060T>G - p.N1020K 0.029 4.34 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06718
4 c.3061G>A - p.A1021T 0.185 12.00 0.0589 Thompson et al., 2013 DNA SEQ MSH6_06719
4 c.3061G>C - p.A1021P 0.955 21.92 0.8672 Thompson et al., 2013 DNA SEQ MSH6_06720
4 c.3061G>T - p.A1021S 0.439 9.97 0.1081 Thompson et al., 2013 DNA SEQ MSH6_06721
4 c.3062C>A - p.A1021D 0.926 47.01 0.9703 Thompson et al., 2013 DNA SEQ MSH6_06722
4 c.3062C>G - p.A1021G 0.939 10.94 0.5575 Thompson et al., 2013 DNA SEQ MSH6_06723
4 c.3062C>T - p.A1021V 0.185 10.03 0.0400 Thompson et al., 2013 DNA SEQ MSH6_06724
4 c.3064G>A - p.E1022K 0.497 19.98 0.4293 Thompson et al., 2013 DNA SEQ MSH6_06725
4 c.3064G>C - p.E1022Q 0.594 13.20 0.3074 Thompson et al., 2013 DNA SEQ MSH6_06726
4 c.3065A>C - p.E1022A 0.917 24.45 0.8768 Thompson et al., 2013 DNA SEQ MSH6_06727
4 c.3065A>G - p.E1022G 0.634 28.23 0.7472 Thompson et al., 2013 DNA SEQ MSH6_06728
4 c.3065A>T - p.E1022V 0.645 31.34 0.7970 Thompson et al., 2013 DNA SEQ MSH6_06729
4 c.3066A>C - p.E1022D 0.720 13.31 0.4361 Thompson et al., 2013 DNA SEQ MSH6_06730
4 c.3066A>T - p.E1022D 0.720 13.31 0.4361 Thompson et al., 2013 DNA SEQ MSH6_06731
4 c.3067G>A - p.E1023K 0.466 4.27 0.0195 Thompson et al., 2013 DNA SEQ MSH6_06732
4 c.3067G>C - p.E1023Q 0.685 2.79 0.0188 Thompson et al., 2013 DNA SEQ MSH6_06733
4 c.3068A>C - p.E1023A 0.685 6.26 0.1073 Thompson et al., 2013 DNA SEQ MSH6_06734
4 c.3068A>G - p.E1023G 0.430 4.27 0.0167 Thompson et al., 2013 DNA SEQ MSH6_06735
4 c.3068A>T - p.E1023V 0.794 8.47 0.2754 Thompson et al., 2013 DNA SEQ MSH6_06736
4 c.3069A>C - p.E1023D 0.332 1.83 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06737
4 c.3069A>T - p.E1023D 0.332 1.83 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06738
4 c.3070C>G - p.R1024G 0.569 24.41 0.6169 Thompson et al., 2013 DNA SEQ MSH6_06739
4 c.3070C>T - p.R1024W 0.932 20.17 0.8306 Thompson et al., 2013 DNA SEQ MSH6_06740
4 c.3071G>A - p.R1024Q 0.091 12.03 0.0405 Thompson et al., 2013 DNA SEQ MSH6_06741
4 c.3071G>C - p.R1024P 0.700 33.62 0.8534 Thompson et al., 2013 DNA SEQ MSH6_06742
4 c.3071G>T - p.R1024L 0.088 20.04 0.1171 Thompson et al., 2013 DNA SEQ MSH6_06743
4 c.3073A>G - p.R1025G 0.938 25.90 0.8987 Thompson et al., 2013 DNA SEQ MSH6_06744
4 c.3073A>T - p.R1025W 0.954 22.31 0.8713 Thompson et al., 2013 DNA SEQ MSH6_06745
4 c.3074G>A - p.R1025K 0.072 6.07 0.0082 Thompson et al., 2013 DNA SEQ MSH6_06746
4 c.3074G>C - p.R1025T 0.824 26.48 0.8517 Thompson et al., 2013 DNA SEQ MSH6_06747
4 c.3074G>T - p.R1025M 0.520 15.78 0.3269 Thompson et al., 2013 DNA SEQ MSH6_06748
4 c.3075G>C - p.R1025S 0.844 21.57 0.7969 Thompson et al., 2013 DNA SEQ MSH6_06749
4 c.3075G>T - p.R1025S 0.844 21.57 0.7969 Thompson et al., 2013 DNA SEQ MSH6_06750
4 c.3076G>A - p.D1026N 0.083 14.11 0.0553 Thompson et al., 2013 DNA SEQ MSH6_06751
4 c.3076G>C - p.D1026H 0.819 18.68 0.7179 Thompson et al., 2013 DNA SEQ MSH6_06752
4 c.3076G>T - p.D1026Y 0.819 15.06 0.6095 Thompson et al., 2013 DNA SEQ MSH6_06753
4 c.3077A>C - p.D1026A 0.069 22.11 0.1326 Thompson et al., 2013 DNA SEQ MSH6_06754
4 c.3077A>G - p.D1026G 0.051 18.51 0.0864 Thompson et al., 2013 DNA SEQ MSH6_06755
4 c.3077A>T - p.D1026V 0.086 23.47 0.1584 Thompson et al., 2013 DNA SEQ MSH6_06756
4 c.3078T>A - p.D1026E 0.029 4.66 0.0037 Thompson et al., 2013 DNA SEQ MSH6_06757
4 c.3078T>G - p.D1026E 0.029 4.66 0.0037 Thompson et al., 2013 DNA SEQ MSH6_06758
4 c.3079G>A - p.V1027I 0.001 2.81 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06759
4 c.3079G>C - p.V1027L 0.001 3.02 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06760
4 c.3079G>T - p.V1027L 0.001 3.02 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06761
4 c.3080T>A - p.V1027E 0.008 33.23 0.2292 Thompson et al., 2013 DNA SEQ MSH6_06762
4 c.3080T>C - p.V1027A 0.000 1.68 0.0003 Thompson et al., 2013 DNA SEQ MSH6_06763
4 c.3080T>G - p.V1027G 0.037 5.17 0.0049 Thompson et al., 2013 DNA SEQ MSH6_06764
4 c.3082T>A - p.S1028T 0.059 13.53 0.0458 Thompson et al., 2013 DNA SEQ MSH6_06765
4 c.3082T>C - p.S1028P 0.445 15.61 0.2561 Thompson et al., 2013 DNA SEQ MSH6_06766
4 c.3082T>G - p.S1028A 0.004 1.76 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06767
4 c.3083C>T - p.S1028L 0.019 13.49 0.0387 Thompson et al., 2013 DNA SEQ MSH6_06768
4 c.3085T>A - p.L1029M 0.755 2.85 0.0264 Thompson et al., 2013 DNA SEQ MSH6_06769
4 c.3085T>G - p.L1029V 0.411 10.66 0.1113 Thompson et al., 2013 DNA SEQ MSH6_06770
4 c.3086T>C - p.L1029S 0.541 12.89 0.2512 Thompson et al., 2013 DNA SEQ MSH6_06771
4 c.3086T>G - p.L1029W 0.992 10.54 0.5920 Thompson et al., 2013 DNA SEQ MSH6_06772
4 c.3087G>C - p.L1029F 0.950 6.78 0.3083 Thompson et al., 2013 DNA SEQ MSH6_06773
4 c.3087G>T - p.L1029F 0.950 6.78 0.3083 Thompson et al., 2013 DNA SEQ MSH6_06774
4 c.3088A>C - p.K1030Q 0.520 3.43 0.0150 Thompson et al., 2013 DNA SEQ MSH6_06775
4 c.3088A>G - p.K1030E 0.259 9.21 0.0449 Thompson et al., 2013 DNA SEQ MSH6_06776
4 c.3089A>C - p.K1030T 0.422 16.47 0.2606 Thompson et al., 2013 DNA SEQ MSH6_06777
4 c.3089A>G - p.K1030R 0.294 3.32 0.0054 Thompson et al., 2013 DNA SEQ MSH6_06778
4 c.3089A>T - p.K1030M 0.939 9.30 0.4656 Thompson et al., 2013 DNA SEQ MSH6_06779
4 c.3090G>C - p.K1030N 0.381 7.56 0.0481 Thompson et al., 2013 DNA SEQ MSH6_06780
4 c.3090G>T - p.K1030N 0.381 7.56 0.0481 Thompson et al., 2013 DNA SEQ MSH6_06781
4 c.3091G>A - p.D1031N 0.169 13.97 0.0763 Thompson et al., 2013 DNA SEQ MSH6_06782
4 c.3091G>C - p.D1031H 0.526 20.32 0.4693 Thompson et al., 2013 DNA SEQ MSH6_06783
4 c.3091G>T - p.D1031Y 0.872 21.06 0.8073 Thompson et al., 2013 DNA SEQ MSH6_06784
4 c.3092A>C - p.D1031A 0.169 29.51 0.3107 Thompson et al., 2013 DNA SEQ MSH6_06785
4 c.3092A>G - p.D1031G 0.121 20.85 0.1431 Thompson et al., 2013 DNA SEQ MSH6_06786
4 c.3092A>T - p.D1031V 0.201 22.25 0.2139 Thompson et al., 2013 DNA SEQ MSH6_06787
4 c.3093C>A - p.D1031E 0.121 23.98 0.1866 Thompson et al., 2013 DNA SEQ MSH6_06788
4 c.3093C>G - p.D1031E 0.121 23.98 0.1866 Thompson et al., 2013 DNA SEQ MSH6_06789
4 c.3094T>A - p.C1032S 0.002 2.93 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06790
4 c.3094T>C - p.C1032R 0.206 37.60 0.4777 Thompson et al., 2013 DNA SEQ MSH6_06791
4 c.3094T>G - p.C1032G 0.007 8.15 0.0120 Thompson et al., 2013 DNA SEQ MSH6_06792
4 c.3095G>A - p.C1032Y 0.007 10.62 0.0217 Thompson et al., 2013 DNA SEQ MSH6_06793
4 c.3095G>C - p.C1032S 0.002 2.93 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06794
4 c.3095G>T - p.C1032F 0.004 13.64 0.0373 Thompson et al., 2013 DNA SEQ MSH6_06795
4 c.3096C>G - p.C1032W 0.502 17.45 0.3611 Thompson et al., 2013 DNA SEQ MSH6_06796
4 c.3097A>C - p.M1033L 0.070 13.49 0.0476 Thompson et al., 2013 DNA SEQ MSH6_06797
4 c.3097A>G - p.M1033V 0.385 30.01 0.5403 Thompson et al., 2013 DNA SEQ MSH6_06798
4 c.3097A>T - p.M1033L 0.070 13.49 0.0476 Thompson et al., 2013 DNA SEQ MSH6_06799
4 c.3098T>A - p.M1033K 0.070 27.72 0.2042 Thompson et al., 2013 DNA SEQ MSH6_06800
6701 - 6800
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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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