View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
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

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

8948 entries
entries per page

Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
Custom PP2.1 score Hide Custom PP2.1 score column Descending
Ascending
MAPP score Hide MAPP score column Descending
Ascending
MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
5 c.3190G>A - p.A1064T 0.054 5.81 0.0069 Thompson et al., 2013 DNA SEQ MSH6_07001
5 c.3190G>C - p.A1064P 0.859 7.91 0.3003 Thompson et al., 2013 DNA SEQ MSH6_07002
5 c.3190G>T - p.A1064S 0.073 4.07 0.0033 Thompson et al., 2013 DNA SEQ MSH6_07003
5 c.3191C>A - p.A1064D 0.822 31.65 0.8951 Thompson et al., 2013 DNA SEQ MSH6_07004
5 c.3191C>G - p.A1064G 0.332 3.88 0.0089 Thompson et al., 2013 DNA SEQ MSH6_07005
5 c.3191C>T - p.A1064V 0.332 5.80 0.0220 Thompson et al., 2013 DNA SEQ MSH6_07006
5 c.3193A>C - p.N1065H 0.003 2.16 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07007
5 c.3193A>G - p.N1065D 0.011 3.14 0.0014 Thompson et al., 2013 DNA SEQ MSH6_07008
5 c.3193A>T - p.N1065Y 0.011 4.72 0.0036 Thompson et al., 2013 DNA SEQ MSH6_07009
5 c.3194A>C - p.N1065T 0.002 3.79 0.0021 Thompson et al., 2013 DNA SEQ MSH6_07010
5 c.3194A>G - p.N1065S 0.001 3.84 0.0021 Thompson et al., 2013 DNA SEQ MSH6_07011
5 c.3194A>T - p.N1065I 0.005 12.07 0.0286 Thompson et al., 2013 DNA SEQ MSH6_07012
5 c.3195C>A - p.N1065K 0.001 2.66 0.0009 Thompson et al., 2013 DNA SEQ MSH6_07013
5 c.3195C>G - p.N1065K 0.001 2.66 0.0009 Thompson et al., 2013 DNA SEQ MSH6_07014
5 c.3196T>A - p.Y1066N 0.652 17.86 0.5302 Thompson et al., 2013 DNA SEQ MSH6_07015
5 c.3196T>C - p.Y1066H 0.086 16.52 0.0782 Thompson et al., 2013 DNA SEQ MSH6_07016
5 c.3196T>G - p.Y1066D 0.652 35.81 0.8455 Thompson et al., 2013 DNA SEQ MSH6_07017
5 c.3197A>C - p.Y1066S 0.051 18.59 0.0872 Thompson et al., 2013 DNA SEQ MSH6_07018
5 c.3197A>G - p.Y1066C 0.086 23.02 0.1526 Thompson et al., 2013 DNA SEQ MSH6_07019
5 c.3197A>T - p.Y1066F 0.031 22.82 0.1226 Thompson et al., 2013 DNA SEQ MSH6_07020
5 c.3199A>C - p.S1067R 0.657 36.37 0.8528 Thompson et al., 2013 DNA SEQ MSH6_07021
5 c.3199A>G - p.S1067G 0.143 9.08 0.0270 Thompson et al., 2013 DNA SEQ MSH6_07022
5 c.3199A>T - p.S1067C 0.341 20.41 0.2889 Thompson et al., 2013 DNA SEQ MSH6_07023
5 c.3200G>A - p.S1067N 0.657 14.09 0.4023 Thompson et al., 2013 DNA SEQ MSH6_07024
5 c.3200G>C - p.S1067T 0.341 13.44 0.1359 Thompson et al., 2013 DNA SEQ MSH6_07025
5 c.3200G>T - p.S1067I 0.828 29.33 0.8805 Thompson et al., 2013 DNA SEQ MSH6_07026
5 c.3201T>A - p.S1067R 0.657 36.37 0.8528 Thompson et al., 2013 DNA SEQ MSH6_07027
5 c.3201T>G - p.S1067R 0.657 36.37 0.8528 Thompson et al., 2013 DNA SEQ MSH6_07028
5 c.3202C>G - p.R1068G 0.003 5.34 0.0046 Thompson et al., 2013 DNA SEQ MSH6_07029
5 c.3203G>A - p.R1068Q 0.001 1.46 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07030
5 c.3203G>C - p.R1068P 0.067 12.67 0.0411 Thompson et al., 2013 DNA SEQ MSH6_07031
5 c.3203G>T - p.R1068L 0.002 3.13 0.0014 Thompson et al., 2013 DNA SEQ MSH6_07032
5 c.3205G>A - p.G1069R 0.010 5.86 0.0058 Thompson et al., 2013 DNA SEQ MSH6_07033
5 c.3205G>C - p.G1069R 0.010 5.86 0.0058 Thompson et al., 2013 DNA SEQ MSH6_07034
5 c.3205G>T - p.G1069W 0.207 5.34 0.0108 Thompson et al., 2013 DNA SEQ MSH6_07035
5 c.3206G>A - p.G1069E 0.003 7.00 0.0084 Thompson et al., 2013 DNA SEQ MSH6_07036
5 c.3206G>C - p.G1069A 0.003 6.49 0.0071 Thompson et al., 2013 DNA SEQ MSH6_07037
5 c.3206G>T - p.G1069V 0.002 4.81 0.0036 Thompson et al., 2013 DNA SEQ MSH6_07038
5 c.3208G>A - p.G1070S 0.001 3.19 0.0014 Thompson et al., 2013 DNA SEQ MSH6_07039
5 c.3208G>C - p.G1070R 0.052 6.21 0.0079 Thompson et al., 2013 DNA SEQ MSH6_07040
5 c.3208G>T - p.G1070C 0.008 8.12 0.0120 Thompson et al., 2013 DNA SEQ MSH6_07041
5 c.3209G>A - p.G1070D 0.008 4.71 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07042
5 c.3209G>C - p.G1070A 0.003 4.12 0.0025 Thompson et al., 2013 DNA SEQ MSH6_07043
5 c.3209G>T - p.G1070V 0.020 11.71 0.0285 Thompson et al., 2013 DNA SEQ MSH6_07044
5 c.3211G>A - p.D1071N 0.400 3.16 0.0075 Thompson et al., 2013 DNA SEQ MSH6_07045
5 c.3211G>C - p.D1071H 0.712 5.42 0.0886 Thompson et al., 2013 DNA SEQ MSH6_07046
5 c.3211G>T - p.D1071Y 0.807 6.90 0.2014 Thompson et al., 2013 DNA SEQ MSH6_07047
5 c.3212A>C - p.D1071A 0.039 5.73 0.0062 Thompson et al., 2013 DNA SEQ MSH6_07048
5 c.3212A>G - p.D1071G 0.005 5.30 0.0045 Thompson et al., 2013 DNA SEQ MSH6_07049
5 c.3212A>T - p.D1071V 0.287 7.72 0.0343 Thompson et al., 2013 DNA SEQ MSH6_07050
5 c.3213T>A - p.D1071E 0.027 2.38 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07051
5 c.3213T>G - p.D1071E 0.027 2.38 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07052
5 c.3214G>A - p.G1072S 0.016 3.31 0.0016 Thompson et al., 2013 DNA SEQ MSH6_07053
5 c.3214G>C - p.G1072R 0.065 8.40 0.0164 Thompson et al., 2013 DNA SEQ MSH6_07054
5 c.3214G>T - p.G1072C 0.070 8.43 0.0169 Thompson et al., 2013 DNA SEQ MSH6_07055
5 c.3215G>A - p.G1072D 0.016 6.22 0.0068 Thompson et al., 2013 DNA SEQ MSH6_07056
5 c.3215G>C - p.G1072A 0.009 8.75 0.0142 Thompson et al., 2013 DNA SEQ MSH6_07057
5 c.3215G>T - p.G1072V 0.016 12.32 0.0313 Thompson et al., 2013 DNA SEQ MSH6_07058
5 c.3217C>A - p.P1073T 0.005 2.44 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07059
5 c.3217C>G - p.P1073A 0.013 5.37 0.0048 Thompson et al., 2013 DNA SEQ MSH6_07060
5 c.3217C>T - p.P1073S 0.003 2.78 0.0010 Thompson et al., 2013 DNA SEQ MSH6_07061
5 c.3218C>A - p.P1073H 0.247 3.02 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07062
5 c.3218C>G - p.P1073R 0.004 4.02 0.0024 Thompson et al., 2013 DNA SEQ MSH6_07063
5 c.3218C>T - p.P1073L 0.009 8.72 0.0141 Thompson et al., 2013 DNA SEQ MSH6_07064
5 c.3220A>C - p.M1074L 0.010 5.57 0.0052 Thompson et al., 2013 DNA SEQ MSH6_07065
5 c.3220A>G - p.M1074V 0.004 11.75 0.0269 Thompson et al., 2013 DNA SEQ MSH6_07066
5 c.3220A>T - p.M1074L 0.010 5.57 0.0052 Thompson et al., 2013 DNA SEQ MSH6_07067
5 c.3221T>A - p.M1074K 0.099 32.02 0.2871 Thompson et al., 2013 DNA SEQ MSH6_07068
5 c.3221T>C - p.M1074T 0.006 13.22 0.0351 Thompson et al., 2013 DNA SEQ MSH6_07069
5 c.3221T>G - p.M1074R 0.084 38.90 0.3701 Thompson et al., 2013 DNA SEQ MSH6_07070
5 c.3222G>A - p.M1074I 0.059 7.55 0.0126 Thompson et al., 2013 DNA SEQ MSH6_07071
5 c.3222G>C - p.M1074I 0.059 7.55 0.0126 Thompson et al., 2013 DNA SEQ MSH6_07072
5 c.3222G>T - p.M1074I 0.059 7.55 0.0126 Thompson et al., 2013 DNA SEQ MSH6_07073
5 c.3223T>A - p.C1075S 0.583 3.39 0.0190 Thompson et al., 2013 DNA SEQ MSH6_07074
5 c.3223T>C - p.C1075R 0.988 36.20 0.9591 Thompson et al., 2013 DNA SEQ MSH6_07075
5 c.3223T>G - p.C1075G 0.958 5.58 0.2286 Thompson et al., 2013 DNA SEQ MSH6_07076
5 c.3224G>A - p.C1075Y 0.980 11.19 0.6123 Thompson et al., 2013 DNA SEQ MSH6_07077
5 c.3224G>C - p.C1075S 0.583 3.39 0.0190 Thompson et al., 2013 DNA SEQ MSH6_07078
5 c.3224G>T - p.C1075F 0.988 12.41 0.6739 Thompson et al., 2013 DNA SEQ MSH6_07079
5 c.3225T>G - p.C1075W 0.996 16.45 0.8021 Thompson et al., 2013 DNA SEQ MSH6_07080
5 c.3226C>A - p.R1076S 0.959 21.57 0.8650 Thompson et al., 2013 DNA SEQ MSH6_07081
5 c.3226C>G - p.R1076G 0.989 25.90 0.9168 Thompson et al., 2013 DNA SEQ MSH6_07082
5 c.3226C>T - p.R1076C 0.698 29.01 0.8050 Thompson et al., 2013 DNA SEQ MSH6_07083
5 c.3227G>A - p.R1076H 0.988 14.41 0.7437 Thompson et al., 2013 DNA SEQ MSH6_07084
5 c.3227G>C - p.R1076P 0.992 40.70 0.9689 Thompson et al., 2013 DNA SEQ MSH6_07085
5 c.3227G>T - p.R1076L 0.660 19.03 0.5742 Thompson et al., 2013 DNA SEQ MSH6_07086
5 c.3229C>A - p.P1077T 1.000 17.77 0.8309 Thompson et al., 2013 DNA SEQ MSH6_07087
5 c.3229C>G - p.P1077A 0.996 20.00 0.8633 Thompson et al., 2013 DNA SEQ MSH6_07088
5 c.3229C>T - p.P1077S 1.000 17.50 0.8260 Thompson et al., 2013 DNA SEQ MSH6_07089
5 c.3230C>A - p.P1077Q 1.000 17.67 0.8291 Thompson et al., 2013 DNA SEQ MSH6_07090
5 c.3230C>G - p.P1077R 1.000 41.48 0.9711 Thompson et al., 2013 DNA SEQ MSH6_07091
5 c.3230C>T - p.P1077L 1.000 26.92 0.9265 Thompson et al., 2013 DNA SEQ MSH6_07092
5 c.3232G>A - p.V1078I 0.004 2.21 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07093
5 c.3232G>C - p.V1078L 0.009 2.96 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07094
5 c.3232G>T - p.V1078L 0.009 2.96 0.0012 Thompson et al., 2013 DNA SEQ MSH6_07095
5 c.3233T>A - p.V1078E 0.001 2.54 0.0008 Thompson et al., 2013 DNA SEQ MSH6_07096
5 c.3233T>C - p.V1078A 0.037 3.75 0.0024 Thompson et al., 2013 DNA SEQ MSH6_07097
5 c.3233T>G - p.V1078G 0.063 4.17 0.0034 Thompson et al., 2013 DNA SEQ MSH6_07098
5 c.3235A>C - p.I1079L 0.003 4.11 0.0025 Thompson et al., 2013 DNA SEQ MSH6_07099
5 c.3235A>G - p.I1079V 0.003 4.73 0.0035 Thompson et al., 2013 DNA SEQ MSH6_07100
7001 - 7100
[<<] [<-] ... 66 67 68 69 70 71 72 73 74 75 76 ... [->] [>>]

Save Click here to save this list in a tab-delimited text file.

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.

  Powered by LOVD v.2.0 Build 33
Enabled modules: mutalyzer
©2004-2011 Leiden University Medical Center