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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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5 c.3235A>T - p.I1079F 0.007 5.74 0.0055 Thompson et al., 2013 DNA SEQ MSH6_07101
5 c.3236T>A - p.I1079N 0.587 15.12 0.3696 Thompson et al., 2013 DNA SEQ MSH6_07102
5 c.3236T>C - p.I1079T 0.243 10.10 0.0514 Thompson et al., 2013 DNA SEQ MSH6_07103
5 c.3236T>G - p.I1079S 0.321 9.92 0.0676 Thompson et al., 2013 DNA SEQ MSH6_07104
5 c.3237T>G - p.I1079M 0.094 8.07 0.0170 Thompson et al., 2013 DNA SEQ MSH6_07105
5 c.3238C>A - p.L1080M 0.207 3.25 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07106
5 c.3238C>G - p.L1080V 0.001 3.08 0.0013 Thompson et al., 2013 DNA SEQ MSH6_07107
5 c.3239T>A - p.L1080Q 0.090 3.29 0.0022 Thompson et al., 2013 DNA SEQ MSH6_07108
5 c.3239T>C - p.L1080P 0.394 14.00 0.1779 Thompson et al., 2013 DNA SEQ MSH6_07109
5 c.3239T>G - p.L1080R 0.440 4.17 0.0166 Thompson et al., 2013 DNA SEQ MSH6_07110
5 c.3241T>A - p.L1081M 0.305 3.02 0.0045 Thompson et al., 2013 DNA SEQ MSH6_07111
5 c.3241T>G - p.L1081V 0.004 2.07 0.0005 Thompson et al., 2013 DNA SEQ MSH6_07112
5 c.3242T>C - p.L1081S 0.012 3.93 0.0024 Thompson et al., 2013 DNA SEQ MSH6_07113
5 c.3242T>G - p.L1081W 0.706 4.31 0.0533 Thompson et al., 2013 DNA SEQ MSH6_07114
5 c.3243G>C - p.L1081F 0.063 2.93 0.0015 Thompson et al., 2013 DNA SEQ MSH6_07115
5 c.3243G>T - p.L1081F 0.063 2.93 0.0015 Thompson et al., 2013 DNA SEQ MSH6_07116
5 c.3244C>A - p.P1082T 0.065 7.66 0.0134 Thompson et al., 2013 DNA SEQ MSH6_07117
5 c.3244C>G - p.P1082A 0.035 9.25 0.0180 Thompson et al., 2013 DNA SEQ MSH6_07118
5 c.3244C>T - p.P1082S 0.038 7.61 0.0118 Thompson et al., 2013 DNA SEQ MSH6_07119
5 c.3245C>A - p.P1082Q 0.109 7.55 0.0156 Thompson et al., 2013 DNA SEQ MSH6_07120
5 c.3245C>G - p.P1082R 0.233 24.58 0.2811 Thompson et al., 2013 DNA SEQ MSH6_07121
5 c.3245C>T - p.P1082L 0.105 14.62 0.0652 Thompson et al., 2013 DNA SEQ MSH6_07122
5 c.3247G>A - p.E1083K 0.033 3.48 0.0020 Thompson et al., 2013 DNA SEQ MSH6_07123
5 c.3247G>C - p.E1083Q 0.090 2.25 0.0009 Thompson et al., 2013 DNA SEQ MSH6_07124
5 c.3248A>C - p.E1083A 0.090 3.15 0.0020 Thompson et al., 2013 DNA SEQ MSH6_07125
5 c.3248A>G - p.E1083G 0.233 2.55 0.0023 Thompson et al., 2013 DNA SEQ MSH6_07126
5 c.3248A>T - p.E1083V 0.171 3.79 0.0043 Thompson et al., 2013 DNA SEQ MSH6_07127
5 c.3249A>C - p.E1083D 0.011 2.08 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07128
5 c.3249A>T - p.E1083D 0.011 2.08 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07129
5 c.3250G>A - p.D1084N 0.002 1.56 0.0003 Thompson et al., 2013 DNA SEQ MSH6_07130
5 c.3250G>C - p.D1084H 0.025 2.82 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07131
5 c.3250G>T - p.D1084Y 0.292 3.98 0.0080 Thompson et al., 2013 DNA SEQ MSH6_07132
5 c.3251A>C - p.D1084A 0.021 5.43 0.0051 Thompson et al., 2013 DNA SEQ MSH6_07133
5 c.3251A>G - p.D1084G 0.001 3.10 0.0013 Thompson et al., 2013 DNA SEQ MSH6_07134
5 c.3251A>T - p.D1084V 0.090 7.31 0.0134 Thompson et al., 2013 DNA SEQ MSH6_07135
5 c.3252T>A - p.D1084E 0.008 2.89 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07136
5 c.3252T>G - p.D1084E 0.008 2.89 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07137
5 c.3253A>C - p.T1085P 0.223 6.02 0.0151 Thompson et al., 2013 DNA SEQ MSH6_07138
5 c.3253A>G - p.T1085A 0.011 4.08 0.0026 Thompson et al., 2013 DNA SEQ MSH6_07139
5 c.3253A>T - p.T1085S 0.010 1.25 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07140
5 c.3254C>A - p.T1085N 0.019 1.85 0.0004 Thompson et al., 2013 DNA SEQ MSH6_07141
5 c.3254C>G - p.T1085S 0.010 1.25 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07142
5 c.3254C>T - p.T1085I 0.223 4.34 0.0073 Thompson et al., 2013 DNA SEQ MSH6_07143
5 c.3256C>A - p.P1086T 0.004 3.29 0.0015 Thompson et al., 2013 DNA SEQ MSH6_07144
5 c.3256C>G - p.P1086A 0.002 2.86 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07145
5 c.3256C>T - p.P1086S 0.002 2.33 0.0007 Thompson et al., 2013 DNA SEQ MSH6_07146
5 c.3257C>A - p.P1086H 0.007 2.78 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07147
5 c.3257C>G - p.P1086R 0.004 8.14 0.0119 Thompson et al., 2013 DNA SEQ MSH6_07148
5 c.3257C>T - p.P1086L 0.004 2.77 0.0010 Thompson et al., 2013 DNA SEQ MSH6_07149
5 c.3259C>A - p.P1087T 0.198 17.77 0.1389 Thompson et al., 2013 DNA SEQ MSH6_07150
5 c.3259C>G - p.P1087A 0.162 20.00 0.1532 Thompson et al., 2013 DNA SEQ MSH6_07151
5 c.3259C>T - p.P1087S 0.123 17.50 0.1017 Thompson et al., 2013 DNA SEQ MSH6_07152
5 c.3260C>A - p.P1087H 0.963 19.31 0.8352 Thompson et al., 2013 DNA SEQ MSH6_07153
5 c.3260C>G - p.P1087R 0.520 41.48 0.8133 Thompson et al., 2013 DNA SEQ MSH6_07154
5 c.3260C>T - p.P1087L 0.738 26.92 0.8051 Thompson et al., 2013 DNA SEQ MSH6_07155
5 c.3262T>A - p.F1088I 0.121 5.77 0.0090 Thompson et al., 2013 DNA SEQ MSH6_07156
5 c.3262T>C - p.F1088L 0.075 6.09 0.0083 Thompson et al., 2013 DNA SEQ MSH6_07157
5 c.3262T>G - p.F1088V 0.021 10.84 0.0241 Thompson et al., 2013 DNA SEQ MSH6_07158
5 c.3263T>A - p.F1088Y 0.065 5.92 0.0075 Thompson et al., 2013 DNA SEQ MSH6_07159
5 c.3263T>C - p.F1088S 0.194 10.54 0.0462 Thompson et al., 2013 DNA SEQ MSH6_07160
5 c.3263T>G - p.F1088C 0.298 10.32 0.0671 Thompson et al., 2013 DNA SEQ MSH6_07161
5 c.3264C>A - p.F1088L 0.075 6.09 0.0083 Thompson et al., 2013 DNA SEQ MSH6_07162
5 c.3264C>G - p.F1088L 0.075 6.09 0.0083 Thompson et al., 2013 DNA SEQ MSH6_07163
5 c.3265T>A - p.L1089I 0.208 2.95 0.0028 Thompson et al., 2013 DNA SEQ MSH6_07164
5 c.3265T>G - p.L1089V 0.196 11.40 0.0552 Thompson et al., 2013 DNA SEQ MSH6_07165
5 c.3266T>C - p.L1089S 0.935 26.57 0.9028 Thompson et al., 2013 DNA SEQ MSH6_07166
5 c.3267A>C - p.L1089F 0.332 8.86 0.0555 Thompson et al., 2013 DNA SEQ MSH6_07167
5 c.3267A>T - p.L1089F 0.332 8.86 0.0555 Thompson et al., 2013 DNA SEQ MSH6_07168
5 c.3268G>A - p.E1090K 0.007 3.99 0.0024 Thompson et al., 2013 DNA SEQ MSH6_07169
5 c.3268G>C - p.E1090Q 0.061 3.02 0.0016 Thompson et al., 2013 DNA SEQ MSH6_07170
5 c.3269A>C - p.E1090A 0.061 4.73 0.0044 Thompson et al., 2013 DNA SEQ MSH6_07171
5 c.3269A>G - p.E1090G 0.104 5.53 0.0076 Thompson et al., 2013 DNA SEQ MSH6_07172
5 c.3269A>T - p.E1090V 0.007 12.03 0.0286 Thompson et al., 2013 DNA SEQ MSH6_07173
5 c.3270G>C - p.E1090D 0.004 3.42 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07174
5 c.3270G>T - p.E1090D 0.004 3.42 0.0017 Thompson et al., 2013 DNA SEQ MSH6_07175
5 c.3271C>A - p.L1091I 0.019 2.19 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07176
5 c.3271C>G - p.L1091V 0.010 9.15 0.0158 Thompson et al., 2013 DNA SEQ MSH6_07177
5 c.3271C>T - p.L1091F 0.007 7.27 0.0093 Thompson et al., 2013 DNA SEQ MSH6_07178
5 c.3272T>A - p.L1091H 0.580 18.20 0.4643 Thompson et al., 2013 DNA SEQ MSH6_07179
5 c.3272T>C - p.L1091P 0.746 28.34 0.8277 Thompson et al., 2013 DNA SEQ MSH6_07180
5 c.3272T>G - p.L1091R 0.746 35.05 0.8861 Thompson et al., 2013 DNA SEQ MSH6_07181
5 c.3274A>C - p.K1092Q 0.012 4.02 0.0025 Thompson et al., 2013 DNA SEQ MSH6_07182
5 c.3274A>G - p.K1092E 0.005 9.00 0.0149 Thompson et al., 2013 DNA SEQ MSH6_07183
5 c.3275A>C - p.K1092T 0.002 8.82 0.0141 Thompson et al., 2013 DNA SEQ MSH6_07184
5 c.3275A>G - p.K1092R 0.004 1.21 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07185
5 c.3275A>T - p.K1092I 0.025 4.40 0.0032 Thompson et al., 2013 DNA SEQ MSH6_07186
5 c.3276A>C - p.K1092N 0.037 6.36 0.0078 Thompson et al., 2013 DNA SEQ MSH6_07187
5 c.3276A>T - p.K1092N 0.037 6.36 0.0078 Thompson et al., 2013 DNA SEQ MSH6_07188
5 c.3277G>A - p.G1093R 0.084 4.80 0.0051 Thompson et al., 2013 DNA SEQ MSH6_07189
5 c.3277G>C - p.G1093R 0.084 4.80 0.0051 Thompson et al., 2013 DNA SEQ MSH6_07190
5 c.3278G>A - p.G1093E 0.004 3.09 0.0013 Thompson et al., 2013 DNA SEQ MSH6_07191
5 c.3278G>C - p.G1093A 0.050 4.04 0.0030 Thompson et al., 2013 DNA SEQ MSH6_07192
5 c.3278G>T - p.G1093V 0.061 11.01 0.0295 Thompson et al., 2013 DNA SEQ MSH6_07193
5 c.3280T>A - p.S1094T 0.093 8.30 0.0180 Thompson et al., 2013 DNA SEQ MSH6_07194
5 c.3280T>C - p.S1094P 0.579 11.76 0.2426 Thompson et al., 2013 DNA SEQ MSH6_07195
5 c.3280T>G - p.S1094A 0.007 4.67 0.0034 Thompson et al., 2013 DNA SEQ MSH6_07196
5 c.3281C>T - p.S1094L 0.004 6.75 0.0078 Thompson et al., 2013 DNA SEQ MSH6_07197
5 c.3283C>A - p.R1095S 0.853 21.57 0.8031 Thompson et al., 2013 DNA SEQ MSH6_07198
5 c.3283C>G - p.R1095G 0.660 25.90 0.7308 Thompson et al., 2013 DNA SEQ MSH6_07199
5 c.3283C>T - p.R1095C 0.988 29.01 0.9342 Thompson et al., 2013 DNA SEQ MSH6_07200
7101 - 7200
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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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