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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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4 c.3098T>C - p.M1033T 0.043 25.97 0.1647 Thompson et al., 2013 DNA SEQ MSH6_06801
4 c.3098T>G - p.M1033R 0.194 32.16 0.3787 Thompson et al., 2013 DNA SEQ MSH6_06802
4 c.3099G>A - p.M1033I 0.169 21.99 0.1878 Thompson et al., 2013 DNA SEQ MSH6_06803
4 c.3099G>C - p.M1033I 0.169 21.99 0.1878 Thompson et al., 2013 DNA SEQ MSH6_06804
4 c.3099G>T - p.M1033I 0.169 21.99 0.1878 Thompson et al., 2013 DNA SEQ MSH6_06805
4 c.3100C>G - p.R1034G 0.316 10.58 0.0759 Thompson et al., 2013 DNA SEQ MSH6_06806
4 c.3100C>T - p.R1034W 0.954 15.68 0.7525 Thompson et al., 2013 DNA SEQ MSH6_06807
4 c.3101G>A - p.R1034Q 0.215 6.75 0.0189 Thompson et al., 2013 DNA SEQ MSH6_06808
4 c.3101G>C - p.R1034P 0.905 33.76 0.9336 Thompson et al., 2013 DNA SEQ MSH6_06809
4 c.3101G>T - p.R1034L 0.208 12.45 0.0698 Thompson et al., 2013 DNA SEQ MSH6_06810
4 c.3103C>G - p.R1035G 0.355 5.09 0.0181 Thompson et al., 2013 DNA SEQ MSH6_06811
4 c.3104G>A - p.R1035Q 0.492 2.41 0.0060 Thompson et al., 2013 DNA SEQ MSH6_06812
4 c.3104G>C - p.R1035P 0.937 9.08 0.4500 Thompson et al., 2013 DNA SEQ MSH6_06813
4 c.3104G>T - p.R1035L 0.482 2.81 0.0082 Thompson et al., 2013 DNA SEQ MSH6_06814
4 c.3106C>A - p.L1036M 0.140 10.02 0.0332 Thompson et al., 2013 DNA SEQ MSH6_06815
4 c.3106C>G - p.L1036V 0.018 5.35 0.0049 Thompson et al., 2013 DNA SEQ MSH6_06816
4 c.3107T>A - p.L1036Q 0.804 16.56 0.6449 Thompson et al., 2013 DNA SEQ MSH6_06817
4 c.3107T>C - p.L1036P 0.874 18.94 0.7685 Thompson et al., 2013 DNA SEQ MSH6_06818
4 c.3107T>G - p.L1036R 0.427 34.92 0.6647 Thompson et al., 2013 DNA SEQ MSH6_06819
4 c.3109T>A - p.F1037I 0.720 10.86 0.3277 Thompson et al., 2013 DNA SEQ MSH6_06820
4 c.3109T>C - p.F1037L 0.237 12.82 0.0832 Thompson et al., 2013 DNA SEQ MSH6_06821
4 c.3109T>G - p.F1037V 0.507 17.61 0.3708 Thompson et al., 2013 DNA SEQ MSH6_06822
4 c.3110T>A - p.F1037Y 0.369 16.28 0.2150 Thompson et al., 2013 DNA SEQ MSH6_06823
4 c.3110T>C - p.F1037S 0.634 19.43 0.5586 Thompson et al., 2013 DNA SEQ MSH6_06824
4 c.3110T>G - p.F1037C 0.634 17.91 0.5126 Thompson et al., 2013 DNA SEQ MSH6_06825
4 c.3111C>A - p.F1037L 0.237 12.82 0.0832 Thompson et al., 2013 DNA SEQ MSH6_06826
4 c.3111C>G - p.F1037L 0.237 12.82 0.0832 Thompson et al., 2013 DNA SEQ MSH6_06827
4 c.3112T>A - p.Y1038N 0.002 3.62 0.0019 Thompson et al., 2013 DNA SEQ MSH6_06828
4 c.3112T>C - p.Y1038H 0.001 1.73 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06829
4 c.3112T>G - p.Y1038D 0.001 5.40 0.0046 Thompson et al., 2013 DNA SEQ MSH6_06830
4 c.3113A>C - p.Y1038S 0.000 3.96 0.0023 Thompson et al., 2013 DNA SEQ MSH6_06831
4 c.3113A>G - p.Y1038C 0.001 4.76 0.0035 Thompson et al., 2013 DNA SEQ MSH6_06832
4 c.3113A>T - p.Y1038F 0.001 3.48 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06833
4 c.3115A>C - p.N1039H 0.138 3.50 0.0031 Thompson et al., 2013 DNA SEQ MSH6_06834
4 c.3115A>G - p.N1039D 0.048 3.20 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06835
4 c.3115A>T - p.N1039Y 0.643 6.33 0.0935 Thompson et al., 2013 DNA SEQ MSH6_06836
4 c.3116A>C - p.N1039T 0.191 5.13 0.0092 Thompson et al., 2013 DNA SEQ MSH6_06837
4 c.3116A>G - p.N1039S 0.014 3.26 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06838
4 c.3116A>T - p.N1039I 0.293 11.55 0.0833 Thompson et al., 2013 DNA SEQ MSH6_06839
4 c.3117C>A - p.N1039K 0.010 2.29 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06840
4 c.3117C>G - p.N1039K 0.010 2.29 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06841
4 c.3118T>A - p.F1040I 0.972 10.86 0.5878 Thompson et al., 2013 DNA SEQ MSH6_06842
4 c.3118T>C - p.F1040L 0.984 12.82 0.6862 Thompson et al., 2013 DNA SEQ MSH6_06843
4 c.3118T>G - p.F1040V 0.973 17.61 0.8110 Thompson et al., 2013 DNA SEQ MSH6_06844
4 c.3119T>A - p.F1040Y 0.989 16.28 0.7935 Thompson et al., 2013 DNA SEQ MSH6_06845
4 c.3119T>C - p.F1040S 0.999 19.43 0.8570 Thompson et al., 2013 DNA SEQ MSH6_06846
4 c.3119T>G - p.F1040C 1.000 17.91 0.8334 Thompson et al., 2013 DNA SEQ MSH6_06847
4 c.3120T>A - p.F1040L 0.984 12.82 0.6862 Thompson et al., 2013 DNA SEQ MSH6_06848
4 c.3120T>G - p.F1040L 0.984 12.82 0.6862 Thompson et al., 2013 DNA SEQ MSH6_06849
4 c.3121G>A - p.D1041N 0.180 13.97 0.0796 Thompson et al., 2013 DNA SEQ MSH6_06850
4 c.3121G>C - p.D1041H 0.078 20.32 0.1159 Thompson et al., 2013 DNA SEQ MSH6_06851
4 c.3121G>T - p.D1041Y 0.028 21.06 0.1031 Thompson et al., 2013 DNA SEQ MSH6_06852
4 c.3122A>C - p.D1041A 0.028 29.51 0.1982 Thompson et al., 2013 DNA SEQ MSH6_06853
4 c.3122A>G - p.D1041G 0.048 20.85 0.1090 Thompson et al., 2013 DNA SEQ MSH6_06854
4 c.3122A>T - p.D1041V 0.041 22.25 0.1210 Thompson et al., 2013 DNA SEQ MSH6_06855
4 c.3123T>A - p.D1041E 0.391 23.98 0.4202 Thompson et al., 2013 DNA SEQ MSH6_06856
4 c.3123T>G - p.D1041E 0.391 23.98 0.4202 Thompson et al., 2013 DNA SEQ MSH6_06857
4 c.3124A>C - p.K1042Q 0.138 2.45 0.0014 Thompson et al., 2013 DNA SEQ MSH6_06858
4 c.3124A>G - p.K1042E 0.029 2.67 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06859
4 c.3125A>C - p.K1042T 0.051 13.80 0.0463 Thompson et al., 2013 DNA SEQ MSH6_06860
4 c.3125A>G - p.K1042R 0.219 5.09 0.0102 Thompson et al., 2013 DNA SEQ MSH6_06861
4 c.3125A>T - p.K1042I 0.293 19.19 0.2235 Thompson et al., 2013 DNA SEQ MSH6_06862
4 c.3126A>C - p.K1042N 0.138 6.06 0.0107 Thompson et al., 2013 DNA SEQ MSH6_06863
4 c.3126A>T - p.K1042N 0.138 6.06 0.0107 Thompson et al., 2013 DNA SEQ MSH6_06864
4 c.3127A>C - p.N1043H 0.029 2.82 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06865
4 c.3127A>G - p.N1043D 0.029 3.93 0.0025 Thompson et al., 2013 DNA SEQ MSH6_06866
4 c.3127A>T - p.N1043Y 0.026 3.92 0.0025 Thompson et al., 2013 DNA SEQ MSH6_06867
4 c.3128A>C - p.N1043T 0.143 2.86 0.0020 Thompson et al., 2013 DNA SEQ MSH6_06868
4 c.3128A>G - p.N1043S 0.044 2.51 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06869
4 c.3128A>T - p.N1043I 0.848 9.90 0.4053 Thompson et al., 2013 DNA SEQ MSH6_06870
4 c.3129T>A - p.N1043K 0.051 5.83 0.0068 Thompson et al., 2013 DNA SEQ MSH6_06871
4 c.3129T>G - p.N1043K 0.051 5.83 0.0068 Thompson et al., 2013 DNA SEQ MSH6_06872
4 c.3130T>A - p.Y1044N 0.149 6.22 0.0119 Thompson et al., 2013 DNA SEQ MSH6_06873
4 c.3130T>C - p.Y1044H 0.019 6.10 0.0066 Thompson et al., 2013 DNA SEQ MSH6_06874
4 c.3130T>G - p.Y1044D 0.149 14.89 0.0806 Thompson et al., 2013 DNA SEQ MSH6_06875
4 c.3131A>C - p.Y1044S 0.019 4.15 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06876
4 c.3131A>G - p.Y1044C 0.587 4.27 0.0322 Thompson et al., 2013 DNA SEQ MSH6_06877
4 c.3131A>T - p.Y1044F 0.011 4.81 0.0037 Thompson et al., 2013 DNA SEQ MSH6_06878
4 c.3133A>C - p.K1045Q 0.013 2.90 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06879
4 c.3133A>G - p.K1045E 0.007 3.34 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06880
4 c.3134A>C - p.K1045T 0.002 4.94 0.0038 Thompson et al., 2013 DNA SEQ MSH6_06881
4 c.3134A>G - p.K1045R 0.040 2.80 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06882
4 c.3134A>T - p.K1045M 0.093 7.67 0.0151 Thompson et al., 2013 DNA SEQ MSH6_06883
4 c.3135G>C - p.K1045N 0.032 2.81 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06884
4 c.3135G>T - p.K1045N 0.032 2.81 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06885
4 c.3136G>A - p.D1046N 0.018 1.83 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06886
4 c.3136G>C - p.D1046H 0.010 2.94 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06887
4 c.3136G>T - p.D1046Y 0.009 3.83 0.0022 Thompson et al., 2013 DNA SEQ MSH6_06888
4 c.3137A>C - p.D1046A 0.014 3.71 0.0021 Thompson et al., 2013 DNA SEQ MSH6_06889
4 c.3137A>G - p.D1046G 0.119 3.89 0.0036 Thompson et al., 2013 DNA SEQ MSH6_06890
4 c.3137A>T - p.D1046V 0.001 4.68 0.0034 Thompson et al., 2013 DNA SEQ MSH6_06891
4 c.3138C>A - p.D1046E 0.003 2.09 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06892
4 c.3138C>G - p.D1046E 0.003 2.09 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06893
4 c.3139T>A - p.W1047R 0.992 37.82 0.9635 Thompson et al., 2013 DNA SEQ MSH6_06894
4 c.3139T>C - p.W1047R 0.992 37.82 0.9635 Thompson et al., 2013 DNA SEQ MSH6_06895
4 c.3139T>G - p.W1047G 0.989 23.29 0.8965 Thompson et al., 2013 DNA SEQ MSH6_06896
4 c.3140G>C - p.W1047S 0.989 16.73 0.8035 Thompson et al., 2013 DNA SEQ MSH6_06897
4 c.3140G>T - p.W1047L 0.651 33.15 0.8206 Thompson et al., 2013 DNA SEQ MSH6_06898
4 c.3141G>C - p.W1047C 0.992 29.05 0.9355 Thompson et al., 2013 DNA SEQ MSH6_06899
4 c.3141G>T - p.W1047C 0.992 29.05 0.9355 Thompson et al., 2013 DNA SEQ MSH6_06900
6801 - 6900
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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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