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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 PMS2_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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Template Hide Template column Descending
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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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9 c.920A>G - p.N307S 0.980 5.46 0.2365 Thompson et al., 2013 DNA SEQ PMS2_02001
9 c.920A>T - p.N307I 0.999 12.38 0.6829 Thompson et al., 2013 DNA SEQ PMS2_02000
9 c.921T>A - p.N307K 0.998 25.22 0.9152 Thompson et al., 2013 DNA SEQ PMS2_02004
9 c.921T>G - p.N307K 0.998 25.22 0.9152 Thompson et al., 2013 DNA SEQ PMS2_02003
9 c.922G>A - p.E308K 0.982 19.98 0.8559 Thompson et al., 2013 DNA SEQ PMS2_02005
9 c.922G>C - p.E308Q 0.986 13.20 0.7021 Thompson et al., 2013 DNA SEQ PMS2_02006
9 c.923A>C - p.E308A 0.988 24.45 0.9060 Thompson et al., 2013 DNA SEQ PMS2_02007
9 c.923A>G - p.E308G 0.993 28.23 0.9317 Thompson et al., 2013 DNA SEQ PMS2_02008
9 c.923A>T - p.E308V 0.989 31.34 0.9444 Thompson et al., 2013 DNA SEQ PMS2_02009
9 c.924G>C - p.E308D 0.901 13.31 0.6258 Thompson et al., 2013 DNA SEQ PMS2_02011
9 c.924G>T - p.E308D 0.901 13.31 0.6258 Thompson et al., 2013 DNA SEQ PMS2_02010
9 c.925G>A - p.V309I 0.876 11.96 0.5411 Thompson et al., 2013 DNA SEQ PMS2_02013
9 c.925G>C - p.V309L 0.876 20.81 0.8057 Thompson et al., 2013 DNA SEQ PMS2_02014
9 c.925G>T - p.V309F 0.993 21.09 0.8756 Thompson et al., 2013 DNA SEQ PMS2_02012
9 c.926T>A - p.V309D 0.992 33.13 0.9513 Thompson et al., 2013 DNA SEQ PMS2_02016
9 c.926T>C - p.V309A 0.982 27.75 0.9260 Thompson et al., 2013 DNA SEQ PMS2_02015
9 c.926T>G - p.V309G 0.995 23.22 0.8982 Thompson et al., 2013 DNA SEQ PMS2_02017
9 c.928T>A - p.Y310N 0.998 21.03 0.8772 Thompson et al., 2013 DNA SEQ PMS2_02020
9 c.928T>C - p.Y310H 0.998 17.56 0.8258 Thompson et al., 2013 DNA SEQ PMS2_02019
9 c.928T>G - p.Y310D 0.998 28.58 0.9348 Thompson et al., 2013 DNA SEQ PMS2_02018
9 c.929A>C - p.Y310S 0.998 17.33 0.8215 Thompson et al., 2013 DNA SEQ PMS2_02023
9 c.929A>G - p.Y310C 0.998 14.50 0.7543 Thompson et al., 2013 DNA SEQ PMS2_02021
9 c.929A>T - p.Y310F 0.987 6.45 0.3178 Thompson et al., 2013 DNA SEQ PMS2_02022
9 c.931C>A - p.H311N 0.976 17.77 0.8160 Thompson et al., 2013 DNA SEQ PMS2_02025
9 c.931C>G - p.H311D 0.987 36.64 0.9600 Thompson et al., 2013 DNA SEQ PMS2_02024
9 c.931C>T - p.H311Y 0.981 18.27 0.8284 Thompson et al., 2013 DNA SEQ PMS2_02026
9 c.932A>C - p.H311P 0.990 43.50 0.9729 Thompson et al., 2013 DNA SEQ PMS2_02028
9 c.932A>G - p.H311R 0.971 31.55 0.9411 Thompson et al., 2013 DNA SEQ PMS2_02029
9 c.932A>T - p.H311L 0.979 25.24 0.9088 Thompson et al., 2013 DNA SEQ PMS2_02027
9 c.933C>A - p.H311Q 0.979 14.29 0.7326 Thompson et al., 2013 DNA SEQ PMS2_02031
9 c.933C>G - p.H311Q 0.979 14.29 0.7326 Thompson et al., 2013 DNA SEQ PMS2_02030
9 c.934A>C - p.M312L 0.001 1.69 0.0003 Thompson et al., 2013 DNA SEQ PMS2_02033
9 c.934A>G - p.M312V 0.013 8.56 0.0138 Thompson et al., 2013 DNA SEQ PMS2_02034
9 c.934A>T - p.M312L 0.001 1.69 0.0003 Thompson et al., 2013 DNA SEQ PMS2_02032
9 c.935T>A - p.M312K 0.034 4.32 0.0032 Thompson et al., 2013 DNA SEQ PMS2_02035
9 c.935T>C - p.M312T 0.003 5.76 0.0054 Thompson et al., 2013 DNA SEQ PMS2_02037
9 c.935T>G - p.M312R 0.088 3.91 0.0032 Thompson et al., 2013 DNA SEQ PMS2_02036
9 c.936G>A - p.M312I 0.013 6.07 0.0064 Thompson et al., 2013 DNA SEQ PMS2_02040
9 c.936G>C - p.M312I 0.013 6.07 0.0064 Thompson et al., 2013 DNA SEQ PMS2_02039
9 c.936G>T - p.M312I 0.013 6.07 0.0064 Thompson et al., 2013 DNA SEQ PMS2_02038
9 c.937T>A - p.Y313N 0.993 21.07 0.8753 Thompson et al., 2013 DNA SEQ PMS2_02043
9 c.937T>C - p.Y313H 0.991 17.57 0.8217 Thompson et al., 2013 DNA SEQ PMS2_02042
9 c.937T>G - p.Y313D 0.993 28.44 0.9327 Thompson et al., 2013 DNA SEQ PMS2_02041
9 c.938A>C - p.Y313S 0.991 17.27 0.8159 Thompson et al., 2013 DNA SEQ PMS2_02046
9 c.938A>G - p.Y313C 0.993 14.49 0.7501 Thompson et al., 2013 DNA SEQ PMS2_02044
9 c.938A>T - p.Y313F 0.952 6.04 0.2569 Thompson et al., 2013 DNA SEQ PMS2_02045
9 c.940A>C - p.N314H 0.997 14.29 0.7473 Thompson et al., 2013 DNA SEQ PMS2_02048
9 c.940A>G - p.N314D 0.987 29.27 0.9352 Thompson et al., 2013 DNA SEQ PMS2_02047
9 c.940A>T - p.N314Y 1.000 20.20 0.8679 Thompson et al., 2013 DNA SEQ PMS2_02049
9 c.941A>C - p.N314T 0.993 16.73 0.8062 Thompson et al., 2013 DNA SEQ PMS2_02052
9 c.941A>G - p.N314S 0.964 13.40 0.6895 Thompson et al., 2013 DNA SEQ PMS2_02051
9 c.941A>T - p.N314I 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ PMS2_02050
9 c.942T>A - p.N314K 1.000 25.31 0.9164 Thompson et al., 2013 DNA SEQ PMS2_02054
9 c.942T>G - p.N314K 1.000 25.31 0.9164 Thompson et al., 2013 DNA SEQ PMS2_02053
9 c.943C>G - p.R315G 0.919 24.65 0.8797 Thompson et al., 2013 DNA SEQ PMS2_02055
9 c.944G>A - p.R315Q 0.694 12.41 0.3713 Thompson et al., 2013 DNA SEQ PMS2_02058
9 c.944G>C - p.R315P 0.904 34.93 0.9380 Thompson et al., 2013 DNA SEQ PMS2_02057
9 c.944G>T - p.R315L 0.838 19.85 0.7601 Thompson et al., 2013 DNA SEQ PMS2_02056
9 c.946C>A - p.H316N 0.014 17.77 0.0686 Thompson et al., 2013 DNA SEQ PMS2_02060
9 c.946C>G - p.H316D 0.374 36.64 0.6383 Thompson et al., 2013 DNA SEQ PMS2_02059
9 c.946C>T - p.H316Y 0.534 18.27 0.4182 Thompson et al., 2013 DNA SEQ PMS2_02061
9 c.947A>C - p.H316P 0.697 43.50 0.9116 Thompson et al., 2013 DNA SEQ PMS2_02063
9 c.947A>G - p.H316R 0.214 31.55 0.3886 Thompson et al., 2013 DNA SEQ PMS2_02064
9 c.947A>T - p.H316L 0.311 25.24 0.3667 Thompson et al., 2013 DNA SEQ PMS2_02062
9 c.948C>A - p.H316Q 0.382 14.29 0.1772 Thompson et al., 2013 DNA SEQ PMS2_02065
9 c.948C>G - p.H316Q 0.382 14.29 0.1772 Thompson et al., 2013 DNA SEQ PMS2_02066
9 c.949C>A - p.Q317K 0.964 27.25 0.9175 Thompson et al., 2013 DNA SEQ PMS2_02068
9 c.949C>G - p.Q317E 0.938 26.89 0.9062 Thompson et al., 2013 DNA SEQ PMS2_02067
9 c.950A>C - p.Q317P 0.995 39.94 0.9680 Thompson et al., 2013 DNA SEQ PMS2_02070
9 c.950A>G - p.Q317R 0.984 33.70 0.9515 Thompson et al., 2013 DNA SEQ PMS2_02071
9 c.950A>T - p.Q317L 0.986 19.88 0.8566 Thompson et al., 2013 DNA SEQ PMS2_02069
9 c.951G>C - p.Q317H 0.992 14.36 0.7454 Thompson et al., 2013 DNA SEQ PMS2_02072
9 c.951G>T - p.Q317H 0.992 14.36 0.7454 Thompson et al., 2013 DNA SEQ PMS2_02073
9 c.952T>A - p.Y318N 0.906 21.06 0.8288 Thompson et al., 2013 DNA SEQ PMS2_02076
9 c.952T>C - p.Y318H 0.148 17.48 0.1116 Thompson et al., 2013 DNA SEQ PMS2_02075
9 c.952T>G - p.Y318D 0.942 27.95 0.9147 Thompson et al., 2013 DNA SEQ PMS2_02074
9 c.953A>C - p.Y318S 0.853 17.00 0.7037 Thompson et al., 2013 DNA SEQ PMS2_02079
9 c.953A>G - p.Y318C 0.955 14.49 0.7185 Thompson et al., 2013 DNA SEQ PMS2_02077
9 c.953A>T - p.Y318F 0.636 4.47 0.0435 Thompson et al., 2013 DNA SEQ PMS2_02078
9 c.955C>A - p.P319T 0.997 17.77 0.8291 Thompson et al., 2013 DNA SEQ PMS2_02082
9 c.955C>G - p.P319A 0.990 20.00 0.8603 Thompson et al., 2013 DNA SEQ PMS2_02080
9 c.955C>T - p.P319S 0.997 17.50 0.8241 Thompson et al., 2013 DNA SEQ PMS2_02081
9 c.956C>A - p.P319Q 0.999 17.67 0.8285 Thompson et al., 2013 DNA SEQ PMS2_02084
9 c.956C>G - p.P319R 0.999 41.48 0.9710 Thompson et al., 2013 DNA SEQ PMS2_02085
9 c.956C>T - p.P319L 0.999 26.92 0.9263 Thompson et al., 2013 DNA SEQ PMS2_02083
9 c.958T>A - p.F320I 0.993 10.86 0.6093 Thompson et al., 2013 DNA SEQ PMS2_02086
9 c.958T>C - p.F320L 0.980 12.82 0.6826 Thompson et al., 2013 DNA SEQ PMS2_02087
9 c.958T>G - p.F320V 0.997 17.61 0.8262 Thompson et al., 2013 DNA SEQ PMS2_02088
9 c.959T>A - p.F320Y 0.986 16.28 0.7914 Thompson et al., 2013 DNA SEQ PMS2_02091
9 c.959T>C - p.F320S 0.998 19.43 0.8565 Thompson et al., 2013 DNA SEQ PMS2_02090
9 c.959T>G - p.F320C 0.998 17.91 0.8322 Thompson et al., 2013 DNA SEQ PMS2_02089
9 c.960T>A - p.F320L 0.980 12.82 0.6826 Thompson et al., 2013 DNA SEQ PMS2_02093
9 c.960T>G - p.F320L 0.980 12.82 0.6826 Thompson et al., 2013 DNA SEQ PMS2_02092
9 c.961G>A - p.V321I 0.139 3.16 0.0025 Thompson et al., 2013 DNA SEQ PMS2_02095
9 c.961G>C - p.V321L 0.494 7.60 0.0764 Thompson et al., 2013 DNA SEQ PMS2_02096
9 c.961G>T - p.V321F 0.967 9.11 0.4837 Thompson et al., 2013 DNA SEQ PMS2_02094
9 c.962T>A - p.V321D 0.998 34.94 0.9576 Thompson et al., 2013 DNA SEQ PMS2_02098
9 c.962T>C - p.V321A 0.950 12.13 0.6253 Thompson et al., 2013 DNA SEQ PMS2_02097
9 c.962T>G - p.V321G 0.999 13.15 0.7118 Thompson et al., 2013 DNA SEQ PMS2_02099
9 c.964G>A - p.V322I 0.815 2.34 0.0219 Thompson et al., 2013 DNA SEQ PMS2_02101
2001 - 2100
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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: [ 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.
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.

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