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 PMS2_priors

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

5735 public entries
entries per page

Path. Hide Path. column Descending
Ascending
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
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
?/? 5 c.511A>G - p.K171E 0.988 23.70 0.8998 Thompson et al., 2013 DNA SEQ PMS2_01100 - - -
?/? 5 c.512A>C - p.K171T 0.998 27.99 0.9318 Thompson et al., 2013 DNA SEQ PMS2_01104 - - -
?/? 5 c.512A>G - p.K171R 0.988 7.31 0.3833 Thompson et al., 2013 DNA SEQ PMS2_01103 - - -
?/? 5 c.512A>T - p.K171M 0.996 17.24 0.8185 Thompson et al., 2013 DNA SEQ PMS2_01102 - - -
?/? 5 c.513G>C - p.K171N 0.998 14.55 0.7558 Thompson et al., 2013 DNA SEQ PMS2_01105 - - -
?/? 5 c.513G>T - p.K171N 0.998 14.55 0.7558 Thompson et al., 2013 DNA SEQ PMS2_01106 - - -
?/? 5 c.514G>A - p.E172K 0.992 19.98 0.8610 Thompson et al., 2013 DNA SEQ PMS2_01107 - - -
?/? 5 c.514G>C - p.E172Q 0.993 13.20 0.7083 Thompson et al., 2013 DNA SEQ PMS2_01108 - - -
?/? 5 c.515A>C - p.E172A 0.994 24.45 0.9081 Thompson et al., 2013 DNA SEQ PMS2_01109 - - -
?/? 5 c.515A>G - p.E172G 0.997 28.23 0.9328 Thompson et al., 2013 DNA SEQ PMS2_01110 - - -
?/? 5 c.515A>T - p.E172V 0.995 31.34 0.9458 Thompson et al., 2013 DNA SEQ PMS2_01111 - - -
?/? 5 c.516A>C - p.E172D 0.952 13.31 0.6751 Thompson et al., 2013 DNA SEQ PMS2_01112 - - -
?/? 5 c.516A>T - p.E172D 0.952 13.31 0.6751 Thompson et al., 2013 DNA SEQ PMS2_01113 - - -
?/? 5 c.517T>A - p.F173I 0.993 10.86 0.6093 Thompson et al., 2013 DNA SEQ PMS2_01114 - - -
?/? 5 c.517T>C - p.F173L 0.982 12.82 0.6844 Thompson et al., 2013 DNA SEQ PMS2_01115 - - -
?/? 5 c.517T>G - p.F173V 0.997 17.61 0.8262 Thompson et al., 2013 DNA SEQ PMS2_01116 - - -
?/? 5 c.518T>A - p.F173Y 0.988 16.28 0.7928 Thompson et al., 2013 DNA SEQ PMS2_01119 - - -
?/? 5 c.518T>C - p.F173S 0.998 19.43 0.8565 Thompson et al., 2013 DNA SEQ PMS2_01118 - - -
?/? 5 c.518T>G - p.F173C 0.998 17.91 0.8322 Thompson et al., 2013 DNA SEQ PMS2_01117 - - -
?/? 5 c.519T>A - p.F173L 0.982 12.82 0.6844 Thompson et al., 2013 DNA SEQ PMS2_01120 - - -
?/? 5 c.519T>G - p.F173L 0.982 12.82 0.6844 Thompson et al., 2013 DNA SEQ PMS2_01121 - - -
?/? 5 c.520C>A - p.Q174K 0.964 23.26 0.8859 Thompson et al., 2013 DNA SEQ PMS2_01123 - - -
?/? 5 c.520C>G - p.Q174E 0.939 23.07 0.8727 Thompson et al., 2013 DNA SEQ PMS2_01122 - - -
?/? 5 c.521A>C - p.Q174P 0.995 23.62 0.9017 Thompson et al., 2013 DNA SEQ PMS2_01125 - - -
?/? 5 c.521A>G - p.Q174R 0.984 23.35 0.8951 Thompson et al., 2013 DNA SEQ PMS2_01126 - - -
?/? 5 c.521A>T - p.Q174L 0.987 1.82 0.0257 Thompson et al., 2013 DNA SEQ PMS2_01124 - - -
?/? 5 c.522A>C - p.Q174H 0.993 11.52 0.6407 Thompson et al., 2013 DNA SEQ PMS2_01127 - - -
?/? 5 c.522A>T - p.Q174H 0.993 11.52 0.6407 Thompson et al., 2013 DNA SEQ PMS2_01128 - - -
?/? 5 c.523A>G - p.R175G 0.997 24.18 0.9071 Thompson et al., 2013 DNA SEQ PMS2_01129 - - -
?/? 5 c.523A>T - p.R175W 0.999 19.88 0.8632 Thompson et al., 2013 DNA SEQ PMS2_01130 - - -
?/? 5 c.524G>A - p.R175K 0.939 4.12 0.1207 Thompson et al., 2013 DNA SEQ PMS2_01131 - - -
?/? 5 c.524G>C - p.R175T 0.994 23.40 0.8995 Thompson et al., 2013 DNA SEQ PMS2_01133 - - -
?/? 5 c.524G>T - p.R175M 0.993 14.56 0.7521 Thompson et al., 2013 DNA SEQ PMS2_01132 - - -
?/? 5 c.525G>C - p.R175S 0.997 20.00 0.8638 Thompson et al., 2013 DNA SEQ PMS2_01135 - - -
?/? 5 c.525G>T - p.R175S 0.997 20.00 0.8638 Thompson et al., 2013 DNA SEQ PMS2_01134 - - -
?/? 5 c.526A>C - p.N176H 0.998 11.85 0.6601 Thompson et al., 2013 DNA SEQ PMS2_01137 - - -
?/? 5 c.526A>G - p.N176D 0.988 24.42 0.9057 Thompson et al., 2013 DNA SEQ PMS2_01136 - - -
?/? 5 c.526A>T - p.N176Y 0.999 10.06 0.5735 Thompson et al., 2013 DNA SEQ PMS2_01138 - - -
?/? 5 c.527A>C - p.N176T 0.993 7.20 0.3802 Thompson et al., 2013 DNA SEQ PMS2_01141 - - -
?/? 5 c.527A>G - p.N176S 0.967 5.56 0.2339 Thompson et al., 2013 DNA SEQ PMS2_01140 - - -
?/? 5 c.527A>T - p.N176I 0.999 12.49 0.6873 Thompson et al., 2013 DNA SEQ PMS2_01139 - - -
?/? 5 c.528T>A - p.N176K 0.997 25.19 0.9146 Thompson et al., 2013 DNA SEQ PMS2_01142 - - -
?/? 5 c.528T>G - p.N176K 0.997 25.19 0.9146 Thompson et al., 2013 DNA SEQ PMS2_01143 - - -
?/? 5 c.529A>C - p.I177L 0.059 2.76 0.0013 Thompson et al., 2013 DNA SEQ PMS2_01145 - - -
?/? 5 c.529A>G - p.I177V 0.168 10.33 0.0398 Thompson et al., 2013 DNA SEQ PMS2_01146 - - -
?/? 5 c.529A>T - p.I177F 0.786 8.86 0.2891 Thompson et al., 2013 DNA SEQ PMS2_01144 - - -
?/? 5 c.530T>A - p.I177N 0.968 24.24 0.8966 Thompson et al., 2013 DNA SEQ PMS2_01147 - - -
?/? 5 c.530T>C - p.I177T 0.907 22.00 0.8430 Thompson et al., 2013 DNA SEQ PMS2_01149 - - -
?/? 5 c.530T>G - p.I177S 0.958 25.94 0.9065 Thompson et al., 2013 DNA SEQ PMS2_01148 - - -
?/? 5 c.531T>G - p.I177M 0.786 10.30 0.3641 Thompson et al., 2013 DNA SEQ PMS2_01150 - - -
?/? 5 c.532A>C - p.K178Q 0.987 14.08 0.7327 Thompson et al., 2013 DNA SEQ PMS2_01152 - - -
?/? 5 c.532A>G - p.K178E 0.988 23.70 0.8998 Thompson et al., 2013 DNA SEQ PMS2_01151 - - -
?/? 5 c.533A>C - p.K178T 0.998 27.99 0.9318 Thompson et al., 2013 DNA SEQ PMS2_01155 - - -
?/? 5 c.533A>G - p.K178R 0.988 7.31 0.3833 Thompson et al., 2013 DNA SEQ PMS2_01154 - - -
?/? 5 c.533A>T - p.K178M 0.996 17.24 0.8185 Thompson et al., 2013 DNA SEQ PMS2_01153 - - -
?/? 5 c.534G>C - p.K178N 0.998 14.55 0.7558 Thompson et al., 2013 DNA SEQ PMS2_01156 - - -
?/? 5 c.534G>T - p.K178N 0.998 14.55 0.7558 Thompson et al., 2013 DNA SEQ PMS2_01157 - - -
?/? 5 c.535A>C - p.K179Q 0.987 14.08 0.7327 Thompson et al., 2013 DNA SEQ PMS2_01159 - - -
?/? 5 c.535A>G - p.K179E 0.988 23.70 0.8998 Thompson et al., 2013 DNA SEQ PMS2_01158 - - -
?/? 5 c.536A>C - p.K179T 0.998 27.99 0.9318 Thompson et al., 2013 DNA SEQ PMS2_01162 - - -
?/? 5 c.536A>G - p.K179R 0.988 7.31 0.3833 Thompson et al., 2013 DNA SEQ PMS2_01161 - - -
?/? 5 c.536A>T - p.K179M 0.996 17.24 0.8185 Thompson et al., 2013 DNA SEQ PMS2_01160 - - -
?/? 5 c.537G>C - p.K179N 0.998 14.55 0.7558 Thompson et al., 2013 DNA SEQ PMS2_01164 - - -
?/? 5 c.537G>T - p.K179N 0.998 14.55 0.7558 Thompson et al., 2013 DNA SEQ PMS2_01163 - - -
?/? 6 c.538G>A - p.E180K 0.706 19.98 0.6469 Thompson et al., 2013 DNA SEQ PMS2_01165 - - -
?/? 6 c.538G>C - p.E180Q 0.702 13.20 0.4128 Thompson et al., 2013 DNA SEQ PMS2_01166 - - -
?/? 6 c.539A>C - p.E180A 0.974 24.45 0.9008 Thompson et al., 2013 DNA SEQ PMS2_01167 - - -
?/? 6 c.539A>G - p.E180G 0.986 28.23 0.9298 Thompson et al., 2013 DNA SEQ PMS2_01168 - - -
?/? 6 c.539A>T - p.E180V 0.969 31.34 0.9398 Thompson et al., 2013 DNA SEQ PMS2_01169 - - -
?/? 6 c.540G>C - p.E180D 0.326 13.31 0.1262 Thompson et al., 2013 DNA SEQ PMS2_01170 - - -
?/? 6 c.540G>T - p.E180D 0.326 13.31 0.1262 Thompson et al., 2013 DNA SEQ PMS2_01171 - - -
?/? 6 c.541T>A - p.Y181N 0.869 20.60 0.7973 Thompson et al., 2013 DNA SEQ PMS2_01174 - - -
?/? 6 c.541T>C - p.Y181H 0.703 17.02 0.5570 Thompson et al., 2013 DNA SEQ PMS2_01173 - - -
?/? 6 c.541T>G - p.Y181D 0.869 27.52 0.8836 Thompson et al., 2013 DNA SEQ PMS2_01172 - - -
?/? 6 c.542A>C - p.Y181S 0.741 16.60 0.5827 Thompson et al., 2013 DNA SEQ PMS2_01177 - - -
?/? 6 c.542A>G - p.Y181C 0.897 14.65 0.6715 Thompson et al., 2013 DNA SEQ PMS2_01175 - - -
?/? 6 c.542A>T - p.Y181F 0.010 2.76 0.0011 Thompson et al., 2013 DNA SEQ PMS2_01176 - - -
?/? 6 c.544G>A - p.A182T 0.007 2.37 0.0007 Thompson et al., 2013 DNA SEQ PMS2_01180 - - -
?/? 6 c.544G>C - p.A182P 0.365 8.23 0.0541 Thompson et al., 2013 DNA SEQ PMS2_01178 - - -
?/? 6 c.544G>T - p.A182S 0.013 1.63 0.0003 Thompson et al., 2013 DNA SEQ PMS2_01179 - - -
?/? 6 c.545C>A - p.A182D 0.488 36.16 0.7357 Thompson et al., 2013 DNA SEQ PMS2_01181 - - -
?/? 6 c.545C>G - p.A182G 0.005 2.78 0.0011 Thompson et al., 2013 DNA SEQ PMS2_01182 - - -
?/? 6 c.545C>T - p.A182V 0.117 3.03 0.0021 Thompson et al., 2013 DNA SEQ PMS2_01183 - - -
?/? 6 c.547A>C - p.K183Q 0.980 11.41 0.6227 Thompson et al., 2013 DNA SEQ PMS2_01185 - - -
?/? 6 c.547A>G - p.K183E 0.983 21.06 0.8705 Thompson et al., 2013 DNA SEQ PMS2_01184 - - -
?/? 6 c.548A>C - p.K183T 0.997 24.62 0.9105 Thompson et al., 2013 DNA SEQ PMS2_01188 - - -
?/? 6 c.548A>G - p.K183R 0.982 4.29 0.1530 Thompson et al., 2013 DNA SEQ PMS2_01187 - - -
?/? 6 c.548A>T - p.K183I 0.995 27.32 0.9274 Thompson et al., 2013 DNA SEQ PMS2_01186 - - -
?/? 6 c.549A>C - p.K183N 0.997 13.12 0.7090 Thompson et al., 2013 DNA SEQ PMS2_01189 - - -
?/? 6 c.549A>T - p.K183N 0.997 13.12 0.7090 Thompson et al., 2013 DNA SEQ PMS2_01190 - - -
?/? 6 c.550A>C - p.M184L 0.946 5.17 0.1914 Thompson et al., 2013 DNA SEQ PMS2_01191 - - -
?/? 6 c.550A>G - p.M184V 0.946 26.04 0.9029 Thompson et al., 2013 DNA SEQ PMS2_01193 - - -
?/? 6 c.550A>T - p.M184L 0.946 5.17 0.1914 Thompson et al., 2013 DNA SEQ PMS2_01192 - - -
?/? 6 c.551T>A - p.M184K 0.999 33.57 0.9540 Thompson et al., 2013 DNA SEQ PMS2_01194 - - -
?/? 6 c.551T>C - p.M184T 0.999 21.23 0.8799 Thompson et al., 2013 DNA SEQ PMS2_01196 - - -
?/? 6 c.551T>G - p.M184R 0.999 39.24 0.9673 Thompson et al., 2013 DNA SEQ PMS2_01195 - - -
?/? 6 c.552G>A - p.M184I 0.969 16.77 0.7906 Thompson et al., 2013 DNA SEQ PMS2_01198 - - -
?/? 6 c.552G>C - p.M184I 0.969 16.77 0.7906 Thompson et al., 2013 DNA SEQ PMS2_01199 - - -
?/? 6 c.552G>T - p.M184I 0.969 16.77 0.7906 Thompson et al., 2013 DNA SEQ PMS2_01197 - - -
?/? 6 c.553G>A - p.V185I 0.008 2.35 0.0007 Thompson et al., 2013 DNA SEQ PMS2_01201 - - -
1101 - 1200
[<<] [<-] ... 7 8 9 10 11 12 13 14 15 16 17 ... [->] [>>]

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: [ PMS2_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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. PMS2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database.

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