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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.3142C>A - p.Q1048K 0.001 3.36 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06901
4 c.3142C>G - p.Q1048E 0.007 4.36 0.0029 Thompson et al., 2013 DNA SEQ MSH6_06902
4 c.3143A>C - p.Q1048P 0.020 10.06 0.0203 Thompson et al., 2013 DNA SEQ MSH6_06903
4 c.3143A>G - p.Q1048R 0.001 4.29 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06904
4 c.3143A>T - p.Q1048L 0.001 12.37 0.0297 Thompson et al., 2013 DNA SEQ MSH6_06905
4 c.3144G>C - p.Q1048H 0.003 3.41 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06906
4 c.3144G>T - p.Q1048H 0.003 3.41 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06907
4 c.3145T>A - p.S1049T 0.001 2.91 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06908
4 c.3145T>C - p.S1049P 0.009 7.48 0.0100 Thompson et al., 2013 DNA SEQ MSH6_06909
4 c.3145T>G - p.S1049A 0.001 3.93 0.0023 Thompson et al., 2013 DNA SEQ MSH6_06910
4 c.3146C>A - p.S1049Y 0.154 5.87 0.0107 Thompson et al., 2013 DNA SEQ MSH6_06911
4 c.3146C>G - p.S1049C 0.352 3.14 0.0060 Thompson et al., 2013 DNA SEQ MSH6_06912
4 c.3146C>T - p.S1049F 0.154 5.52 0.0093 Thompson et al., 2013 DNA SEQ MSH6_06913
4 c.3148G>A - p.A1050T 0.284 33.24 0.4908 Thompson et al., 2013 DNA SEQ MSH6_06914
4 c.3148G>C - p.A1050P 0.970 38.15 0.9608 Thompson et al., 2013 DNA SEQ MSH6_06915
4 c.3148G>T - p.A1050S 0.541 23.39 0.5647 Thompson et al., 2013 DNA SEQ MSH6_06916
4 c.3149C>A - p.A1050D 0.970 43.15 0.9701 Thompson et al., 2013 DNA SEQ MSH6_06917
4 c.3149C>G - p.A1050G 0.959 22.29 0.8734 Thompson et al., 2013 DNA SEQ MSH6_06918
4 c.3149C>T - p.A1050V 0.163 35.49 0.4005 Thompson et al., 2013 DNA SEQ MSH6_06919
4 c.3151G>A - p.V1051I 0.284 3.63 0.0063 Thompson et al., 2013 DNA SEQ MSH6_06920
4 c.3151G>C - p.V1051L 0.690 7.64 0.1618 Thompson et al., 2013 DNA SEQ MSH6_06921
4 c.3151G>T - p.V1051L 0.690 7.64 0.1618 Thompson et al., 2013 DNA SEQ MSH6_06922
4 c.3152T>A - p.V1051E 0.984 31.47 0.9438 Thompson et al., 2013 DNA SEQ MSH6_06923
4 c.3152T>C - p.V1051A 0.767 10.64 0.3624 Thompson et al., 2013 DNA SEQ MSH6_06924
4 c.3152T>G - p.V1051G 0.984 9.87 0.5471 Thompson et al., 2013 DNA SEQ MSH6_06925
4 c.3154G>A - p.E1052K 0.011 3.34 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06926
4 c.3154G>C - p.E1052Q 0.011 1.48 0.0003 Thompson et al., 2013 DNA SEQ MSH6_06927
4 c.3155A>C - p.E1052A 0.084 9.22 0.0219 Thompson et al., 2013 DNA SEQ MSH6_06928
4 c.3155A>G - p.E1052G 0.212 6.03 0.0145 Thompson et al., 2013 DNA SEQ MSH6_06929
4 c.3155A>T - p.E1052V 0.223 15.18 0.1115 Thompson et al., 2013 DNA SEQ MSH6_06930
4 c.3156G>C - p.E1052D 0.019 5.75 0.0058 Thompson et al., 2013 DNA SEQ MSH6_06931
4 c.3156G>T - p.E1052D 0.019 5.75 0.0058 Thompson et al., 2013 DNA SEQ MSH6_06932
4 c.3157T>A - p.C1053S 0.070 14.04 0.0519 Thompson et al., 2013 DNA SEQ MSH6_06933
4 c.3157T>C - p.C1053R 0.263 34.86 0.4955 Thompson et al., 2013 DNA SEQ MSH6_06934
4 c.3157T>G - p.C1053G 0.510 15.41 0.3060 Thompson et al., 2013 DNA SEQ MSH6_06935
4 c.3158G>A - p.C1053Y 0.201 21.23 0.1966 Thompson et al., 2013 DNA SEQ MSH6_06936
4 c.3158G>C - p.C1053S 0.070 14.04 0.0519 Thompson et al., 2013 DNA SEQ MSH6_06937
4 c.3158G>T - p.C1053F 0.298 21.32 0.2719 Thompson et al., 2013 DNA SEQ MSH6_06938
4 c.3159T>G - p.C1053W 0.900 32.95 0.9287 Thompson et al., 2013 DNA SEQ MSH6_06939
4 c.3160A>C - p.I1054L 0.002 2.23 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06940
4 c.3160A>G - p.I1054V 0.003 6.33 0.0067 Thompson et al., 2013 DNA SEQ MSH6_06941
4 c.3160A>T - p.I1054F 0.019 4.12 0.0027 Thompson et al., 2013 DNA SEQ MSH6_06942
4 c.3161T>A - p.I1054N 0.394 16.24 0.2325 Thompson et al., 2013 DNA SEQ MSH6_06943
4 c.3161T>C - p.I1054T 0.005 9.92 0.0185 Thompson et al., 2013 DNA SEQ MSH6_06944
4 c.3161T>G - p.I1054S 0.159 10.11 0.0366 Thompson et al., 2013 DNA SEQ MSH6_06945
4 c.3162C>G - p.I1054M 0.038 5.36 0.0053 Thompson et al., 2013 DNA SEQ MSH6_06946
4 c.3163G>A - p.A1055T 0.889 10.77 0.4956 Thompson et al., 2013 DNA SEQ MSH6_06947
4 c.3163G>C - p.A1055P 0.991 14.78 0.7568 Thompson et al., 2013 DNA SEQ MSH6_06948
4 c.3163G>T - p.A1055S 0.328 5.19 0.0169 Thompson et al., 2013 DNA SEQ MSH6_06949
4 c.3164C>A - p.A1055E 0.988 36.90 0.9608 Thompson et al., 2013 DNA SEQ MSH6_06950
4 c.3164C>G - p.A1055G 0.755 5.78 0.1191 Thompson et al., 2013 DNA SEQ MSH6_06951
4 c.3164C>T - p.A1055V 0.981 14.80 0.7495 Thompson et al., 2013 DNA SEQ MSH6_06952
4 c.3166G>A - p.V1056M 0.298 14.13 0.1280 Thompson et al., 2013 DNA SEQ MSH6_06953
4 c.3166G>C - p.V1056L 0.043 8.63 0.0159 Thompson et al., 2013 DNA SEQ MSH6_06954
4 c.3166G>T - p.V1056L 0.043 8.63 0.0159 Thompson et al., 2013 DNA SEQ MSH6_06955
4 c.3167T>A - p.V1056E 0.024 32.07 0.2270 Thompson et al., 2013 DNA SEQ MSH6_06956
4 c.3167T>C - p.V1056A 0.169 12.90 0.0645 Thompson et al., 2013 DNA SEQ MSH6_06957
4 c.3167T>G - p.V1056G 0.510 15.17 0.2985 Thompson et al., 2013 DNA SEQ MSH6_06958
4 c.3169T>A - p.L1057M 0.695 9.33 0.2369 Thompson et al., 2013 DNA SEQ MSH6_06959
4 c.3169T>G - p.L1057V 0.272 17.81 0.1818 Thompson et al., 2013 DNA SEQ MSH6_06960
4 c.3170T>C - p.L1057S 0.954 16.84 0.7814 Thompson et al., 2013 DNA SEQ MSH6_06961
4 c.3170T>G - p.L1057W 0.987 17.32 0.8143 Thompson et al., 2013 DNA SEQ MSH6_06962
4 c.3171G>C - p.L1057F 0.397 8.84 0.0716 Thompson et al., 2013 DNA SEQ MSH6_06963
4 c.3171G>T - p.L1057F 0.397 8.84 0.0716 Thompson et al., 2013 DNA SEQ MSH6_06964
4 c.3172G>A - p.D1058N 0.987 13.97 0.7292 Thompson et al., 2013 DNA SEQ MSH6_06965
4 c.3172G>C - p.D1058H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_06966
4 c.3172G>T - p.D1058Y 0.999 21.06 0.8780 Thompson et al., 2013 DNA SEQ MSH6_06967
5 c.3173A>C - p.D1058A 0.999 29.51 0.9393 Thompson et al., 2013 DNA SEQ MSH6_06968
5 c.3173A>G - p.D1058G 0.996 20.85 0.8741 Thompson et al., 2013 DNA SEQ MSH6_06969
5 c.3173A>T - p.D1058V 0.999 22.25 0.8907 Thompson et al., 2013 DNA SEQ MSH6_06970
5 c.3174T>A - p.D1058E 0.991 23.98 0.9033 Thompson et al., 2013 DNA SEQ MSH6_06971
5 c.3174T>G - p.D1058E 0.991 23.98 0.9033 Thompson et al., 2013 DNA SEQ MSH6_06972
5 c.3175G>A - p.V1059I 0.927 3.69 0.0922 Thompson et al., 2013 DNA SEQ MSH6_06973
5 c.3175G>C - p.V1059L 0.836 5.73 0.1576 Thompson et al., 2013 DNA SEQ MSH6_06974
5 c.3175G>T - p.V1059F 0.970 7.52 0.3804 Thompson et al., 2013 DNA SEQ MSH6_06975
5 c.3176T>A - p.V1059D 0.970 38.50 0.9616 Thompson et al., 2013 DNA SEQ MSH6_06976
5 c.3176T>C - p.V1059A 0.174 7.14 0.0180 Thompson et al., 2013 DNA SEQ MSH6_06977
5 c.3176T>G - p.V1059G 0.933 9.10 0.4470 Thompson et al., 2013 DNA SEQ MSH6_06978
5 c.3178T>A - p.L1060I 0.887 15.46 0.6888 Thompson et al., 2013 DNA SEQ MSH6_06979
5 c.3178T>G - p.L1060V 0.695 25.80 0.7575 Thompson et al., 2013 DNA SEQ MSH6_06980
5 c.3179T>C - p.L1060S 0.990 22.76 0.8920 Thompson et al., 2013 DNA SEQ MSH6_06981
5 c.3180A>C - p.L1060F 0.891 12.59 0.5855 Thompson et al., 2013 DNA SEQ MSH6_06982
5 c.3180A>T - p.L1060F 0.891 12.59 0.5855 Thompson et al., 2013 DNA SEQ MSH6_06983
5 c.3181C>A - p.L1061M 0.052 2.89 0.0014 Thompson et al., 2013 DNA SEQ MSH6_06984
5 c.3181C>G - p.L1061V 0.017 6.47 0.0075 Thompson et al., 2013 DNA SEQ MSH6_06985
5 c.3182T>A - p.L1061Q 0.218 8.27 0.0300 Thompson et al., 2013 DNA SEQ MSH6_06986
5 c.3182T>C - p.L1061P 0.753 11.77 0.4024 Thompson et al., 2013 DNA SEQ MSH6_06987
5 c.3182T>G - p.L1061R 0.331 30.81 0.4978 Thompson et al., 2013 DNA SEQ MSH6_06988
5 c.3184T>A - p.C1062S 0.001 0.87 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06989
5 c.3184T>C - p.C1062R 0.119 33.85 0.3322 Thompson et al., 2013 DNA SEQ MSH6_06990
5 c.3184T>G - p.C1062G 0.002 6.61 0.0074 Thompson et al., 2013 DNA SEQ MSH6_06991
5 c.3185G>A - p.C1062Y 0.193 10.16 0.0425 Thompson et al., 2013 DNA SEQ MSH6_06992
5 c.3185G>C - p.C1062S 0.001 0.87 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06993
5 c.3185G>T - p.C1062F 0.193 13.31 0.0757 Thompson et al., 2013 DNA SEQ MSH6_06994
5 c.3186C>G - p.C1062W 0.664 16.35 0.4929 Thompson et al., 2013 DNA SEQ MSH6_06995
5 c.3187C>A - p.L1063M 0.967 6.37 0.2937 Thompson et al., 2013 DNA SEQ MSH6_06996
5 c.3187C>G - p.L1063V 0.980 14.46 0.7386 Thompson et al., 2013 DNA SEQ MSH6_06997
5 c.3188T>A - p.L1063Q 0.997 10.61 0.6007 Thompson et al., 2013 DNA SEQ MSH6_06998
5 c.3188T>C - p.L1063P 0.997 20.05 0.8645 Thompson et al., 2013 DNA SEQ MSH6_06999
5 c.3188T>G - p.L1063R 0.997 34.44 0.9561 Thompson et al., 2013 DNA SEQ MSH6_07000
6901 - 7000
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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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