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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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7 c.3646G>A - p.G1216R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_08001
7 c.3646G>C - p.G1216R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_08002
8 c.3647G>A - p.G1216E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ MSH6_08003
8 c.3647G>C - p.G1216A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ MSH6_08004
8 c.3647G>T - p.G1216V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_08005
8 c.3649A>G - p.R1217G 1.000 25.90 0.9204 Thompson et al., 2013 DNA SEQ MSH6_08006
8 c.3650G>A - p.R1217K 1.000 6.07 0.3002 Thompson et al., 2013 DNA SEQ MSH6_08007
8 c.3650G>C - p.R1217T 1.000 26.48 0.9240 Thompson et al., 2013 DNA SEQ MSH6_08008
8 c.3650G>T - p.R1217I 1.000 26.94 0.9267 Thompson et al., 2013 DNA SEQ MSH6_08009
8 c.3651A>C - p.R1217S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_08010
8 c.3651A>T - p.R1217S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_08011
8 c.3652G>A - p.G1218S 1.000 7.50 0.4095 Thompson et al., 2013 DNA SEQ MSH6_08012
8 c.3652G>C - p.G1218R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_08013
8 c.3652G>T - p.G1218C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_08014
8 c.3653G>A - p.G1218D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ MSH6_08015
8 c.3653G>C - p.G1218A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ MSH6_08016
8 c.3653G>T - p.G1218V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_08017
8 c.3655A>C - p.T1219P 1.000 43.72 0.9743 Thompson et al., 2013 DNA SEQ MSH6_08018
8 c.3655A>G - p.T1219A 0.999 37.99 0.9649 Thompson et al., 2013 DNA SEQ MSH6_08019
8 c.3655A>T - p.T1219S 0.999 11.33 0.6379 Thompson et al., 2013 DNA SEQ MSH6_08020
8 c.3656C>A - p.T1219N 1.000 20.18 0.8677 Thompson et al., 2013 DNA SEQ MSH6_08021
8 c.3656C>G - p.T1219S 0.999 11.33 0.6379 Thompson et al., 2013 DNA SEQ MSH6_08022
8 c.3656C>T - p.T1219I 1.000 33.48 0.9539 Thompson et al., 2013 DNA SEQ MSH6_08023
8 c.3658G>A - p.A1220T 0.817 33.24 0.9033 Thompson et al., 2013 DNA SEQ MSH6_08024
8 c.3658G>C - p.A1220P 0.965 38.15 0.9600 Thompson et al., 2013 DNA SEQ MSH6_08025
8 c.3658G>T - p.A1220S 0.056 23.39 0.1412 Thompson et al., 2013 DNA SEQ MSH6_08026
8 c.3659C>A - p.A1220E 0.916 37.64 0.9497 Thompson et al., 2013 DNA SEQ MSH6_08027
8 c.3659C>G - p.A1220G 0.881 22.29 0.8319 Thompson et al., 2013 DNA SEQ MSH6_08028
8 c.3659C>T - p.A1220V 0.924 35.49 0.9447 Thompson et al., 2013 DNA SEQ MSH6_08029
8 c.3661A>C - p.T1221P 0.999 43.72 0.9742 Thompson et al., 2013 DNA SEQ MSH6_08030
8 c.3661A>G - p.T1221A 0.998 37.99 0.9647 Thompson et al., 2013 DNA SEQ MSH6_08031
8 c.3661A>T - p.T1221S 0.930 11.33 0.5676 Thompson et al., 2013 DNA SEQ MSH6_08032
8 c.3662C>A - p.T1221K 0.998 34.43 0.9563 Thompson et al., 2013 DNA SEQ MSH6_08033
8 c.3662C>G - p.T1221R 0.999 37.76 0.9644 Thompson et al., 2013 DNA SEQ MSH6_08034
8 c.3662C>T - p.T1221I 0.999 33.48 0.9537 Thompson et al., 2013 DNA SEQ MSH6_08035
8 c.3664T>A - p.F1222I 0.774 8.14 0.2418 Thompson et al., 2013 DNA SEQ MSH6_08036
8 c.3664T>C - p.F1222L 0.326 12.48 0.1109 Thompson et al., 2013 DNA SEQ MSH6_08037
8 c.3664T>G - p.F1222V 0.652 13.97 0.3925 Thompson et al., 2013 DNA SEQ MSH6_08038
8 c.3665T>A - p.F1222Y 0.024 1.98 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08039
8 c.3665T>C - p.F1222S 0.136 16.75 0.0977 Thompson et al., 2013 DNA SEQ MSH6_08040
8 c.3665T>G - p.F1222C 0.946 14.56 0.7129 Thompson et al., 2013 DNA SEQ MSH6_08041
8 c.3666T>A - p.F1222L 0.326 12.48 0.1109 Thompson et al., 2013 DNA SEQ MSH6_08042
8 c.3666T>G - p.F1222L 0.326 12.48 0.1109 Thompson et al., 2013 DNA SEQ MSH6_08043
8 c.3667G>A - p.D1223N 1.000 13.97 0.7400 Thompson et al., 2013 DNA SEQ MSH6_08044
8 c.3667G>C - p.D1223H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_08045
8 c.3667G>T - p.D1223Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ MSH6_08046
8 c.3668A>C - p.D1223A 1.000 29.51 0.9395 Thompson et al., 2013 DNA SEQ MSH6_08047
8 c.3668A>G - p.D1223G 1.000 20.85 0.8760 Thompson et al., 2013 DNA SEQ MSH6_08048
8 c.3668A>T - p.D1223V 1.000 22.25 0.8911 Thompson et al., 2013 DNA SEQ MSH6_08049
8 c.3669T>A - p.D1223E 1.000 23.98 0.9066 Thompson et al., 2013 DNA SEQ MSH6_08050
8 c.3669T>G - p.D1223E 1.000 23.98 0.9066 Thompson et al., 2013 DNA SEQ MSH6_08051
8 c.3670G>A - p.G1224R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_08052
8 c.3670G>C - p.G1224R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_08053
8 c.3670G>T - p.G1224W 1.000 22.39 0.8925 Thompson et al., 2013 DNA SEQ MSH6_08054
8 c.3671G>A - p.G1224E 1.000 35.36 0.9591 Thompson et al., 2013 DNA SEQ MSH6_08055
8 c.3671G>C - p.G1224A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ MSH6_08056
8 c.3671G>T - p.G1224V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_08057
8 c.3673A>C - p.T1225P 0.922 43.72 0.9645 Thompson et al., 2013 DNA SEQ MSH6_08058
8 c.3673A>G - p.T1225A 0.381 37.99 0.6637 Thompson et al., 2013 DNA SEQ MSH6_08059
8 c.3673A>T - p.T1225S 0.302 11.33 0.0829 Thompson et al., 2013 DNA SEQ MSH6_08060
8 c.3674C>A - p.T1225K 0.738 34.43 0.8784 Thompson et al., 2013 DNA SEQ MSH6_08061
8 c.3674C>G - p.T1225R 0.656 37.76 0.8627 Thompson et al., 2013 DNA SEQ MSH6_08062
8 c.3674C>T - p.T1225M 0.594 29.50 0.7336 Thompson et al., 2013 DNA SEQ MSH6_08063
8 c.3676G>A - p.A1226T 0.994 15.98 0.7901 Thompson et al., 2013 DNA SEQ MSH6_08064
8 c.3676G>C - p.A1226P 0.997 16.71 0.8084 Thompson et al., 2013 DNA SEQ MSH6_08065
8 c.3676G>T - p.A1226S 0.904 8.94 0.4070 Thompson et al., 2013 DNA SEQ MSH6_08066
8 c.3677C>A - p.A1226E 0.997 38.29 0.9652 Thompson et al., 2013 DNA SEQ MSH6_08067
8 c.3677C>G - p.A1226G 0.996 7.82 0.4284 Thompson et al., 2013 DNA SEQ MSH6_08068
8 c.3677C>T - p.A1226V 0.994 20.34 0.8668 Thompson et al., 2013 DNA SEQ MSH6_08069
8 c.3679A>C - p.I1227L 0.904 10.44 0.4939 Thompson et al., 2013 DNA SEQ MSH6_08070
8 c.3679A>G - p.I1227V 0.723 10.65 0.3208 Thompson et al., 2013 DNA SEQ MSH6_08071
8 c.3679A>T - p.I1227L 0.904 10.44 0.4939 Thompson et al., 2013 DNA SEQ MSH6_08072
8 c.3680T>A - p.I1227K 0.997 28.51 0.9342 Thompson et al., 2013 DNA SEQ MSH6_08073
8 c.3680T>C - p.I1227T 0.994 19.60 0.8568 Thompson et al., 2013 DNA SEQ MSH6_08074
8 c.3680T>G - p.I1227R 0.998 32.56 0.9506 Thompson et al., 2013 DNA SEQ MSH6_08075
8 c.3681A>G - p.I1227M 0.995 15.70 0.7841 Thompson et al., 2013 DNA SEQ MSH6_08076
8 c.3682G>A - p.A1228T 0.998 33.24 0.9528 Thompson et al., 2013 DNA SEQ MSH6_08077
8 c.3682G>C - p.A1228P 1.000 38.15 0.9653 Thompson et al., 2013 DNA SEQ MSH6_08078
8 c.3682G>T - p.A1228S 0.994 23.39 0.8994 Thompson et al., 2013 DNA SEQ MSH6_08079
8 c.3683C>A - p.A1228E 1.000 37.64 0.9643 Thompson et al., 2013 DNA SEQ MSH6_08080
8 c.3683C>G - p.A1228G 0.999 22.29 0.8911 Thompson et al., 2013 DNA SEQ MSH6_08081
8 c.3683C>T - p.A1228V 0.979 35.49 0.9558 Thompson et al., 2013 DNA SEQ MSH6_08082
8 c.3685A>C - p.N1229H 0.001 11.89 0.0272 Thompson et al., 2013 DNA SEQ MSH6_08083
8 c.3685A>G - p.N1229D 0.013 24.76 0.1347 Thompson et al., 2013 DNA SEQ MSH6_08084
8 c.3685A>T - p.N1229Y 0.000 2.96 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08085
8 c.3686A>C - p.N1229T 0.002 1.71 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08086
8 c.3686A>G - p.N1229S 0.000 1.09 0.0001 Thompson et al., 2013 DNA SEQ MSH6_08087
8 c.3686A>T - p.N1229I 0.004 6.95 0.0083 Thompson et al., 2013 DNA SEQ MSH6_08088
8 c.3687T>A - p.N1229K 0.007 24.89 0.1332 Thompson et al., 2013 DNA SEQ MSH6_08089
8 c.3687T>G - p.N1229K 0.007 24.89 0.1332 Thompson et al., 2013 DNA SEQ MSH6_08090
8 c.3688G>A - p.A1230T 0.981 16.48 0.7925 Thompson et al., 2013 DNA SEQ MSH6_08091
8 c.3688G>C - p.A1230P 0.991 16.97 0.8099 Thompson et al., 2013 DNA SEQ MSH6_08092
8 c.3688G>T - p.A1230S 0.328 9.28 0.0603 Thompson et al., 2013 DNA SEQ MSH6_08093
8 c.3689C>A - p.A1230E 0.988 38.35 0.9640 Thompson et al., 2013 DNA SEQ MSH6_08094
8 c.3689C>G - p.A1230G 0.839 8.04 0.2902 Thompson et al., 2013 DNA SEQ MSH6_08095
8 c.3689C>T - p.A1230V 0.981 20.87 0.8672 Thompson et al., 2013 DNA SEQ MSH6_08096
8 c.3691G>A - p.V1231I 0.921 11.96 0.5882 Thompson et al., 2013 DNA SEQ MSH6_08097
8 c.3691G>C - p.V1231L 0.968 20.81 0.8599 Thompson et al., 2013 DNA SEQ MSH6_08098
8 c.3691G>T - p.V1231F 0.990 21.09 0.8742 Thompson et al., 2013 DNA SEQ MSH6_08099
8 c.3692T>A - p.V1231D 0.996 33.13 0.9521 Thompson et al., 2013 DNA SEQ MSH6_08100
8001 - 8100
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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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