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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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7 c.3599T>G - p.I1200R 0.992 32.56 0.9494 Thompson et al., 2013 DNA SEQ MSH6_07901
7 c.3600A>G - p.I1200M 0.670 15.70 0.4763 Thompson et al., 2013 DNA SEQ MSH6_07902
7 c.3601C>A - p.L1201I 0.972 15.46 0.7607 Thompson et al., 2013 DNA SEQ MSH6_07903
7 c.3601C>G - p.L1201V 0.871 25.80 0.8686 Thompson et al., 2013 DNA SEQ MSH6_07904
7 c.3601C>T - p.L1201F 0.991 12.59 0.6838 Thompson et al., 2013 DNA SEQ MSH6_07905
7 c.3602T>A - p.L1201H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_07906
7 c.3602T>C - p.L1201P 0.999 36.32 0.9612 Thompson et al., 2013 DNA SEQ MSH6_07907
7 c.3602T>G - p.L1201R 0.999 33.02 0.9523 Thompson et al., 2013 DNA SEQ MSH6_07908
7 c.3604A>C - p.M1202L 0.000 2.71 0.0010 Thompson et al., 2013 DNA SEQ MSH6_07909
7 c.3604A>G - p.M1202V 0.000 8.34 0.0123 Thompson et al., 2013 DNA SEQ MSH6_07910
7 c.3604A>T - p.M1202L 0.000 2.71 0.0010 Thompson et al., 2013 DNA SEQ MSH6_07911
7 c.3605T>A - p.M1202K 0.000 1.86 0.0004 Thompson et al., 2013 DNA SEQ MSH6_07912
7 c.3605T>C - p.M1202T 0.000 7.51 0.0097 Thompson et al., 2013 DNA SEQ MSH6_07913
7 c.3605T>G - p.M1202R 0.000 2.14 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07914
7 c.3606G>A - p.M1202I 0.003 5.54 0.0050 Thompson et al., 2013 DNA SEQ MSH6_07915
7 c.3606G>C - p.M1202I 0.003 5.54 0.0050 Thompson et al., 2013 DNA SEQ MSH6_07916
7 c.3606G>T - p.M1202I 0.003 5.54 0.0050 Thompson et al., 2013 DNA SEQ MSH6_07917
7 c.3607C>A - p.H1203N 0.070 17.77 0.0855 Thompson et al., 2013 DNA SEQ MSH6_07918
7 c.3607C>G - p.H1203D 0.263 36.64 0.5237 Thompson et al., 2013 DNA SEQ MSH6_07919
7 c.3607C>T - p.H1203Y 0.125 18.27 0.1118 Thompson et al., 2013 DNA SEQ MSH6_07920
7 c.3608A>C - p.H1203P 0.894 43.50 0.9598 Thompson et al., 2013 DNA SEQ MSH6_07921
7 c.3608A>G - p.H1203R 0.263 31.55 0.4392 Thompson et al., 2013 DNA SEQ MSH6_07922
7 c.3608A>T - p.H1203L 0.194 25.24 0.2602 Thompson et al., 2013 DNA SEQ MSH6_07923
7 c.3609T>A - p.H1203Q 0.169 14.29 0.0800 Thompson et al., 2013 DNA SEQ MSH6_07924
7 c.3609T>G - p.H1203Q 0.169 14.29 0.0800 Thompson et al., 2013 DNA SEQ MSH6_07925
7 c.3610G>A - p.A1204T 0.987 15.92 0.7836 Thompson et al., 2013 DNA SEQ MSH6_07926
7 c.3610G>C - p.A1204P 0.996 16.69 0.8073 Thompson et al., 2013 DNA SEQ MSH6_07927
7 c.3610G>T - p.A1204S 0.887 8.90 0.3872 Thompson et al., 2013 DNA SEQ MSH6_07928
7 c.3611C>A - p.A1204E 0.995 38.28 0.9649 Thompson et al., 2013 DNA SEQ MSH6_07929
7 c.3611C>G - p.A1204G 0.887 7.80 0.3190 Thompson et al., 2013 DNA SEQ MSH6_07930
7 c.3611C>T - p.A1204V 0.801 20.28 0.7396 Thompson et al., 2013 DNA SEQ MSH6_07931
7 c.3613A>C - p.T1205P 0.997 32.40 0.9499 Thompson et al., 2013 DNA SEQ MSH6_07932
7 c.3613A>G - p.T1205A 0.995 26.51 0.9226 Thompson et al., 2013 DNA SEQ MSH6_07933
7 c.3613A>T - p.T1205S 0.904 3.53 0.0769 Thompson et al., 2013 DNA SEQ MSH6_07934
7 c.3614C>A - p.T1205K 0.994 27.85 0.9300 Thompson et al., 2013 DNA SEQ MSH6_07935
7 c.3614C>G - p.T1205R 0.998 33.46 0.9535 Thompson et al., 2013 DNA SEQ MSH6_07936
7 c.3614C>T - p.T1205I 0.998 34.37 0.9561 Thompson et al., 2013 DNA SEQ MSH6_07937
7 c.3616G>A - p.A1206T 0.013 4.45 0.0032 Thompson et al., 2013 DNA SEQ MSH6_07938
7 c.3616G>C - p.A1206P 0.001 6.68 0.0075 Thompson et al., 2013 DNA SEQ MSH6_07939
7 c.3616G>T - p.A1206S 0.002 2.80 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07940
7 c.3617C>A - p.A1206E 0.004 2.30 0.0007 Thompson et al., 2013 DNA SEQ MSH6_07941
7 c.3617C>G - p.A1206G 0.038 3.33 0.0018 Thompson et al., 2013 DNA SEQ MSH6_07942
7 c.3617C>T - p.A1206V 0.055 5.91 0.0072 Thompson et al., 2013 DNA SEQ MSH6_07943
7 c.3619C>A - p.H1207N 0.070 2.01 0.0007 Thompson et al., 2013 DNA SEQ MSH6_07944
7 c.3619C>G - p.H1207D 0.121 5.57 0.0083 Thompson et al., 2013 DNA SEQ MSH6_07945
7 c.3619C>T - p.H1207Y 0.065 7.95 0.0145 Thompson et al., 2013 DNA SEQ MSH6_07946
7 c.3620A>C - p.H1207P 0.894 28.43 0.9009 Thompson et al., 2013 DNA SEQ MSH6_07947
7 c.3620A>G - p.H1207R 0.024 7.32 0.0102 Thompson et al., 2013 DNA SEQ MSH6_07948
7 c.3620A>T - p.H1207L 0.648 32.15 0.8082 Thompson et al., 2013 DNA SEQ MSH6_07949
7 c.3621T>A - p.H1207Q 0.263 6.53 0.0215 Thompson et al., 2013 DNA SEQ MSH6_07950
7 c.3621T>G - p.H1207Q 0.263 6.53 0.0215 Thompson et al., 2013 DNA SEQ MSH6_07951
7 c.3622T>A - p.S1208T 0.973 13.44 0.6991 Thompson et al., 2013 DNA SEQ MSH6_07952
7 c.3622T>C - p.S1208P 1.000 39.26 0.9674 Thompson et al., 2013 DNA SEQ MSH6_07953
7 c.3622T>G - p.S1208A 0.999 28.89 0.9365 Thompson et al., 2013 DNA SEQ MSH6_07954
7 c.3623C>A - p.S1208Y 1.000 23.48 0.9024 Thompson et al., 2013 DNA SEQ MSH6_07955
7 c.3623C>G - p.S1208C 1.000 20.41 0.8706 Thompson et al., 2013 DNA SEQ MSH6_07956
7 c.3623C>T - p.S1208F 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_07957
7 c.3625C>A - p.L1209M 0.998 10.65 0.6038 Thompson et al., 2013 DNA SEQ MSH6_07958
7 c.3625C>G - p.L1209V 0.994 25.80 0.9178 Thompson et al., 2013 DNA SEQ MSH6_07959
7 c.3626T>A - p.L1209Q 0.999 15.01 0.7693 Thompson et al., 2013 DNA SEQ MSH6_07960
7 c.3626T>C - p.L1209P 0.999 36.32 0.9612 Thompson et al., 2013 DNA SEQ MSH6_07961
7 c.3626T>G - p.L1209R 0.999 33.02 0.9523 Thompson et al., 2013 DNA SEQ MSH6_07962
7 c.3628G>A - p.V1210M 0.994 24.43 0.9080 Thompson et al., 2013 DNA SEQ MSH6_07963
7 c.3628G>C - p.V1210L 0.817 20.81 0.7633 Thompson et al., 2013 DNA SEQ MSH6_07964
7 c.3628G>T - p.V1210L 0.817 20.81 0.7633 Thompson et al., 2013 DNA SEQ MSH6_07965
7 c.3629T>A - p.V1210E 0.996 32.45 0.9499 Thompson et al., 2013 DNA SEQ MSH6_07966
7 c.3629T>C - p.V1210A 0.921 27.75 0.9061 Thompson et al., 2013 DNA SEQ MSH6_07967
7 c.3629T>G - p.V1210G 0.992 23.22 0.8971 Thompson et al., 2013 DNA SEQ MSH6_07968
7 c.3631C>A - p.L1211I 0.238 15.46 0.1224 Thompson et al., 2013 DNA SEQ MSH6_07969
7 c.3631C>G - p.L1211V 0.058 25.80 0.1716 Thompson et al., 2013 DNA SEQ MSH6_07970
7 c.3631C>T - p.L1211F 0.950 12.59 0.6449 Thompson et al., 2013 DNA SEQ MSH6_07971
7 c.3632T>A - p.L1211H 0.977 20.32 0.8579 Thompson et al., 2013 DNA SEQ MSH6_07972
7 c.3632T>C - p.L1211P 0.977 36.32 0.9576 Thompson et al., 2013 DNA SEQ MSH6_07973
7 c.3632T>G - p.L1211R 0.977 33.02 0.9479 Thompson et al., 2013 DNA SEQ MSH6_07974
7 c.3634G>A - p.V1212M 0.006 8.08 0.0118 Thompson et al., 2013 DNA SEQ MSH6_07975
7 c.3634G>C - p.V1212L 0.002 2.54 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07976
7 c.3634G>T - p.V1212L 0.002 2.54 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07977
7 c.3635T>A - p.V1212E 0.584 34.47 0.7898 Thompson et al., 2013 DNA SEQ MSH6_07978
7 c.3635T>C - p.V1212A 0.151 7.56 0.0186 Thompson et al., 2013 DNA SEQ MSH6_07979
7 c.3635T>G - p.V1212G 0.434 12.37 0.1623 Thompson et al., 2013 DNA SEQ MSH6_07980
7 c.3637G>A - p.D1213N 1.000 13.97 0.7400 Thompson et al., 2013 DNA SEQ MSH6_07981
7 c.3637G>C - p.D1213H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_07982
7 c.3637G>T - p.D1213Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ MSH6_07983
7 c.3638A>C - p.D1213A 1.000 29.51 0.9395 Thompson et al., 2013 DNA SEQ MSH6_07984
7 c.3638A>G - p.D1213G 1.000 20.85 0.8760 Thompson et al., 2013 DNA SEQ MSH6_07985
7 c.3638A>T - p.D1213V 1.000 22.25 0.8911 Thompson et al., 2013 DNA SEQ MSH6_07986
7 c.3639T>A - p.D1213E 1.000 23.98 0.9066 Thompson et al., 2013 DNA SEQ MSH6_07987
7 c.3639T>G - p.D1213E 1.000 23.98 0.9066 Thompson et al., 2013 DNA SEQ MSH6_07988
7 c.3640G>A - p.E1214K 1.000 19.98 0.8651 Thompson et al., 2013 DNA SEQ MSH6_07989
7 c.3640G>C - p.E1214Q 1.000 13.20 0.7144 Thompson et al., 2013 DNA SEQ MSH6_07990
7 c.3641A>C - p.E1214A 1.000 24.45 0.9102 Thompson et al., 2013 DNA SEQ MSH6_07991
7 c.3641A>G - p.E1214G 1.000 28.23 0.9336 Thompson et al., 2013 DNA SEQ MSH6_07992
7 c.3641A>T - p.E1214V 1.000 31.34 0.9468 Thompson et al., 2013 DNA SEQ MSH6_07993
7 c.3642A>C - p.E1214D 1.000 13.31 0.7183 Thompson et al., 2013 DNA SEQ MSH6_07994
7 c.3642A>T - p.E1214D 1.000 13.31 0.7183 Thompson et al., 2013 DNA SEQ MSH6_07995
7 c.3643T>A - p.L1215I 1.000 15.46 0.7817 Thompson et al., 2013 DNA SEQ MSH6_07996
7 c.3643T>G - p.L1215V 1.000 25.80 0.9197 Thompson et al., 2013 DNA SEQ MSH6_07997
7 c.3644T>C - p.L1215S 1.000 22.76 0.8960 Thompson et al., 2013 DNA SEQ MSH6_07998
7 c.3645A>C - p.L1215F 1.000 12.59 0.6920 Thompson et al., 2013 DNA SEQ MSH6_07999
7 c.3645A>T - p.L1215F 1.000 12.59 0.6920 Thompson et al., 2013 DNA SEQ MSH6_08000
7901 - 8000
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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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