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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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8 c.3692T>C - p.V1231A 0.994 27.75 0.9294 Thompson et al., 2013 DNA SEQ MSH6_08101
8 c.3692T>G - p.V1231G 0.995 23.22 0.8982 Thompson et al., 2013 DNA SEQ MSH6_08102
8 c.3694G>A - p.V1232I 0.755 4.64 0.0759 Thompson et al., 2013 DNA SEQ MSH6_08103
8 c.3694G>C - p.V1232L 0.039 8.63 0.0157 Thompson et al., 2013 DNA SEQ MSH6_08104
8 c.3694G>T - p.V1232F 0.636 10.66 0.2463 Thompson et al., 2013 DNA SEQ MSH6_08105
8 c.3695T>A - p.V1232D 0.970 36.37 0.9565 Thompson et al., 2013 DNA SEQ MSH6_08106
8 c.3695T>C - p.V1232A 0.498 12.90 0.2186 Thompson et al., 2013 DNA SEQ MSH6_08107
8 c.3695T>G - p.V1232G 0.933 15.17 0.7206 Thompson et al., 2013 DNA SEQ MSH6_08108
8 c.3697A>C - p.K1233Q 0.019 3.69 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08109
8 c.3697A>G - p.K1233E 0.019 6.00 0.0064 Thompson et al., 2013 DNA SEQ MSH6_08110
8 c.3698A>C - p.K1233T 0.061 7.01 0.0108 Thompson et al., 2013 DNA SEQ MSH6_08111
8 c.3698A>G - p.K1233R 0.021 2.31 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08112
8 c.3698A>T - p.K1233I 0.436 22.77 0.4383 Thompson et al., 2013 DNA SEQ MSH6_08113
8 c.3699A>C - p.K1233N 0.021 3.51 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08114
8 c.3699A>T - p.K1233N 0.021 3.51 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08115
8 c.3700G>A - p.E1234K 0.075 6.55 0.0098 Thompson et al., 2013 DNA SEQ MSH6_08116
8 c.3700G>C - p.E1234Q 0.263 5.97 0.0176 Thompson et al., 2013 DNA SEQ MSH6_08117
8 c.3701A>C - p.E1234A 0.263 19.78 0.2134 Thompson et al., 2013 DNA SEQ MSH6_08118
8 c.3701A>G - p.E1234G 0.510 13.15 0.2352 Thompson et al., 2013 DNA SEQ MSH6_08119
8 c.3701A>T - p.E1234V 0.385 27.48 0.4904 Thompson et al., 2013 DNA SEQ MSH6_08120
8 c.3702A>C - p.E1234D 0.194 5.54 0.0111 Thompson et al., 2013 DNA SEQ MSH6_08121
8 c.3702A>T - p.E1234D 0.194 5.54 0.0111 Thompson et al., 2013 DNA SEQ MSH6_08122
8 c.3703C>A - p.L1235I 0.419 5.23 0.0251 Thompson et al., 2013 DNA SEQ MSH6_08123
8 c.3703C>G - p.L1235V 0.268 13.94 0.1113 Thompson et al., 2013 DNA SEQ MSH6_08124
8 c.3703C>T - p.L1235F 0.568 9.43 0.1562 Thompson et al., 2013 DNA SEQ MSH6_08125
8 c.3704T>A - p.L1235H 0.988 21.22 0.8747 Thompson et al., 2013 DNA SEQ MSH6_08126
8 c.3704T>C - p.L1235P 0.988 35.65 0.9578 Thompson et al., 2013 DNA SEQ MSH6_08127
8 c.3704T>G - p.L1235R 0.988 35.01 0.9561 Thompson et al., 2013 DNA SEQ MSH6_08128
8 c.3706G>A - p.A1236T 0.081 9.15 0.0213 Thompson et al., 2013 DNA SEQ MSH6_08129
8 c.3706G>C - p.A1236P 0.747 15.08 0.5353 Thompson et al., 2013 DNA SEQ MSH6_08130
8 c.3706G>T - p.A1236S 0.028 3.65 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08131
8 c.3707C>A - p.A1236D 0.747 37.60 0.9016 Thompson et al., 2013 DNA SEQ MSH6_08132
8 c.3707C>G - p.A1236G 0.683 5.10 0.0697 Thompson et al., 2013 DNA SEQ MSH6_08133
8 c.3707C>T - p.A1236V 0.016 13.31 0.0371 Thompson et al., 2013 DNA SEQ MSH6_08134
8 c.3709G>A - p.E1237K 0.051 4.62 0.0040 Thompson et al., 2013 DNA SEQ MSH6_08135
8 c.3709G>C - p.E1237Q 0.138 2.83 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08136
8 c.3710A>C - p.E1237A 0.191 4.82 0.0080 Thompson et al., 2013 DNA SEQ MSH6_08137
8 c.3710A>G - p.E1237G 0.549 5.76 0.0528 Thompson et al., 2013 DNA SEQ MSH6_08138
8 c.3710A>T - p.E1237V 0.520 18.64 0.4148 Thompson et al., 2013 DNA SEQ MSH6_08139
8 c.3711G>C - p.E1237D 0.048 5.31 0.0055 Thompson et al., 2013 DNA SEQ MSH6_08140
8 c.3711G>T - p.E1237D 0.048 5.31 0.0055 Thompson et al., 2013 DNA SEQ MSH6_08141
8 c.3712A>C - p.T1238P 0.019 9.03 0.0159 Thompson et al., 2013 DNA SEQ MSH6_08142
8 c.3712A>G - p.T1238A 0.006 5.68 0.0053 Thompson et al., 2013 DNA SEQ MSH6_08143
8 c.3712A>T - p.T1238S 0.001 1.52 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08144
8 c.3713C>A - p.T1238N 0.001 1.17 0.0001 Thompson et al., 2013 DNA SEQ MSH6_08145
8 c.3713C>G - p.T1238S 0.001 1.52 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08146
8 c.3713C>T - p.T1238I 0.011 3.55 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08147
8 c.3715A>C - p.I1239L 0.049 6.49 0.0086 Thompson et al., 2013 DNA SEQ MSH6_08148
8 c.3715A>G - p.I1239V 0.010 2.66 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08149
8 c.3715A>T - p.I1239L 0.049 6.49 0.0086 Thompson et al., 2013 DNA SEQ MSH6_08150
8 c.3716T>A - p.I1239K 0.140 26.99 0.2455 Thompson et al., 2013 DNA SEQ MSH6_08151
8 c.3716T>C - p.I1239T 0.140 14.43 0.0728 Thompson et al., 2013 DNA SEQ MSH6_08152
8 c.3716T>G - p.I1239R 0.326 32.09 0.5156 Thompson et al., 2013 DNA SEQ MSH6_08153
8 c.3717A>G - p.I1239M 0.461 12.28 0.1761 Thompson et al., 2013 DNA SEQ MSH6_08154
8 c.3718A>C - p.K1240Q 0.044 2.57 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08155
8 c.3718A>G - p.K1240E 0.401 4.55 0.0171 Thompson et al., 2013 DNA SEQ MSH6_08156
8 c.3719A>C - p.K1240T 0.204 4.51 0.0073 Thompson et al., 2013 DNA SEQ MSH6_08157
8 c.3719A>G - p.K1240R 0.079 1.50 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08158
8 c.3719A>T - p.K1240I 0.401 6.01 0.0317 Thompson et al., 2013 DNA SEQ MSH6_08159
8 c.3720A>C - p.K1240N 0.127 3.20 0.0024 Thompson et al., 2013 DNA SEQ MSH6_08160
8 c.3720A>T - p.K1240N 0.127 3.20 0.0024 Thompson et al., 2013 DNA SEQ MSH6_08161
8 c.3721T>A - p.C1241S 0.419 14.04 0.1950 Thompson et al., 2013 DNA SEQ MSH6_08162
8 c.3721T>C - p.C1241R 0.988 34.86 0.9557 Thompson et al., 2013 DNA SEQ MSH6_08163
8 c.3721T>G - p.C1241G 0.978 15.41 0.7640 Thompson et al., 2013 DNA SEQ MSH6_08164
8 c.3722G>A - p.C1241Y 0.979 21.23 0.8706 Thompson et al., 2013 DNA SEQ MSH6_08165
8 c.3722G>C - p.C1241S 0.419 14.04 0.1950 Thompson et al., 2013 DNA SEQ MSH6_08166
8 c.3722G>T - p.C1241F 0.988 21.32 0.8759 Thompson et al., 2013 DNA SEQ MSH6_08167
8 c.3723T>G - p.C1241W 0.996 32.95 0.9515 Thompson et al., 2013 DNA SEQ MSH6_08168
8 c.3724C>A - p.R1242S 0.975 21.57 0.8727 Thompson et al., 2013 DNA SEQ MSH6_08169
8 c.3724C>G - p.R1242G 0.989 25.90 0.9168 Thompson et al., 2013 DNA SEQ MSH6_08170
8 c.3724C>T - p.R1242C 0.943 29.01 0.9214 Thompson et al., 2013 DNA SEQ MSH6_08171
8 c.3725G>A - p.R1242H 0.988 14.41 0.7437 Thompson et al., 2013 DNA SEQ MSH6_08172
8 c.3725G>C - p.R1242P 0.897 40.70 0.9541 Thompson et al., 2013 DNA SEQ MSH6_08173
8 c.3725G>T - p.R1242L 0.260 19.03 0.1970 Thompson et al., 2013 DNA SEQ MSH6_08174
8 c.3727A>C - p.T1243P 0.950 43.72 0.9684 Thompson et al., 2013 DNA SEQ MSH6_08175
8 c.3727A>G - p.T1243A 0.636 37.99 0.8540 Thompson et al., 2013 DNA SEQ MSH6_08176
8 c.3727A>T - p.T1243S 0.411 11.33 0.1258 Thompson et al., 2013 DNA SEQ MSH6_08177
8 c.3728C>A - p.T1243K 0.920 34.43 0.9401 Thompson et al., 2013 DNA SEQ MSH6_08178
8 c.3728C>G - p.T1243R 0.970 37.76 0.9599 Thompson et al., 2013 DNA SEQ MSH6_08179
8 c.3728C>T - p.T1243I 0.920 33.48 0.9364 Thompson et al., 2013 DNA SEQ MSH6_08180
8 c.3730T>A - p.L1244I 0.670 5.23 0.0698 Thompson et al., 2013 DNA SEQ MSH6_08181
8 c.3730T>G - p.L1244V 0.678 13.94 0.4180 Thompson et al., 2013 DNA SEQ MSH6_08182
8 c.3731T>C - p.L1244S 0.983 26.91 0.9214 Thompson et al., 2013 DNA SEQ MSH6_08183
8 c.3732A>C - p.L1244F 0.545 9.43 0.1437 Thompson et al., 2013 DNA SEQ MSH6_08184
8 c.3732A>T - p.L1244F 0.545 9.43 0.1437 Thompson et al., 2013 DNA SEQ MSH6_08185
8 c.3733T>A - p.F1245I 0.998 10.86 0.6143 Thompson et al., 2013 DNA SEQ MSH6_08186
8 c.3733T>C - p.F1245L 0.999 12.82 0.6998 Thompson et al., 2013 DNA SEQ MSH6_08187
8 c.3733T>G - p.F1245V 0.989 17.61 0.8212 Thompson et al., 2013 DNA SEQ MSH6_08188
8 c.3734T>A - p.F1245Y 0.999 16.28 0.8004 Thompson et al., 2013 DNA SEQ MSH6_08189
8 c.3734T>C - p.F1245S 1.000 19.43 0.8575 Thompson et al., 2013 DNA SEQ MSH6_08190
8 c.3734T>G - p.F1245C 1.000 17.91 0.8334 Thompson et al., 2013 DNA SEQ MSH6_08191
8 c.3735T>A - p.F1245L 0.999 12.82 0.6998 Thompson et al., 2013 DNA SEQ MSH6_08192
8 c.3735T>G - p.F1245L 0.999 12.82 0.6998 Thompson et al., 2013 DNA SEQ MSH6_08193
8 c.3736T>A - p.S1246T 0.690 13.44 0.4103 Thompson et al., 2013 DNA SEQ MSH6_08194
8 c.3736T>C - p.S1246P 0.984 39.26 0.9652 Thompson et al., 2013 DNA SEQ MSH6_08195
8 c.3736T>G - p.S1246A 0.370 28.89 0.5028 Thompson et al., 2013 DNA SEQ MSH6_08196
8 c.3737C>T - p.S1246L 0.690 28.64 0.7949 Thompson et al., 2013 DNA SEQ MSH6_08197
8 c.3739A>C - p.T1247P 1.000 43.72 0.9743 Thompson et al., 2013 DNA SEQ MSH6_08198
8 c.3739A>G - p.T1247A 0.999 37.99 0.9649 Thompson et al., 2013 DNA SEQ MSH6_08199
8 c.3739A>T - p.T1247S 0.994 11.33 0.6329 Thompson et al., 2013 DNA SEQ MSH6_08200
8101 - 8200
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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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