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
9 c.3919A>G - p.N1307D 0.004 1.72 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08601
9 c.3919A>T - p.N1307Y 0.329 5.18 0.0169 Thompson et al., 2013 DNA SEQ MSH6_08602
9 c.3920A>C - p.N1307T 0.065 4.25 0.0035 Thompson et al., 2013 DNA SEQ MSH6_08603
9 c.3920A>G - p.N1307S 0.006 2.38 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08604
9 c.3920A>T - p.N1307I 0.429 7.68 0.0604 Thompson et al., 2013 DNA SEQ MSH6_08605
9 c.3921T>A - p.N1307K 0.013 3.13 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08606
9 c.3921T>G - p.N1307K 0.013 3.13 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08607
9 c.3922C>A - p.L1308I 0.057 1.67 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08608
9 c.3922C>G - p.L1308V 0.051 10.35 0.0247 Thompson et al., 2013 DNA SEQ MSH6_08609
9 c.3922C>T - p.L1308F 0.600 8.85 0.1552 Thompson et al., 2013 DNA SEQ MSH6_08610
9 c.3923T>A - p.L1308H 0.954 19.28 0.8294 Thompson et al., 2013 DNA SEQ MSH6_08611
9 c.3923T>C - p.L1308P 0.954 33.46 0.9444 Thompson et al., 2013 DNA SEQ MSH6_08612
9 c.3923T>G - p.L1308R 0.924 34.85 0.9425 Thompson et al., 2013 DNA SEQ MSH6_08613
9 c.3925C>A - p.P1309T 0.987 17.77 0.8230 Thompson et al., 2013 DNA SEQ MSH6_08614
9 c.3925C>G - p.P1309A 0.921 20.00 0.8211 Thompson et al., 2013 DNA SEQ MSH6_08615
9 c.3925C>T - p.P1309S 0.823 17.50 0.6907 Thompson et al., 2013 DNA SEQ MSH6_08616
9 c.3926C>A - p.P1309Q 0.990 17.67 0.8230 Thompson et al., 2013 DNA SEQ MSH6_08617
9 c.3926C>G - p.P1309R 0.990 41.48 0.9699 Thompson et al., 2013 DNA SEQ MSH6_08618
9 c.3926C>T - p.P1309L 0.995 26.92 0.9251 Thompson et al., 2013 DNA SEQ MSH6_08619
9 c.3928G>A - p.E1310K 0.019 5.80 0.0059 Thompson et al., 2013 DNA SEQ MSH6_08620
9 c.3928G>C - p.E1310Q 0.084 4.01 0.0034 Thompson et al., 2013 DNA SEQ MSH6_08621
9 c.3929A>C - p.E1310A 0.028 7.72 0.0116 Thompson et al., 2013 DNA SEQ MSH6_08622
9 c.3929A>G - p.E1310G 0.059 5.42 0.0060 Thompson et al., 2013 DNA SEQ MSH6_08623
9 c.3929A>T - p.E1310V 0.031 11.41 0.0282 Thompson et al., 2013 DNA SEQ MSH6_08624
9 c.3930G>C - p.E1310D 0.006 2.08 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08625
9 c.3930G>T - p.E1310D 0.006 2.08 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08626
9 c.3931G>A - p.E1311K 0.049 3.96 0.0028 Thompson et al., 2013 DNA SEQ MSH6_08627
9 c.3931G>C - p.E1311Q 0.417 2.33 0.0041 Thompson et al., 2013 DNA SEQ MSH6_08628
9 c.3932A>C - p.E1311A 0.290 4.45 0.0102 Thompson et al., 2013 DNA SEQ MSH6_08629
9 c.3932A>G - p.E1311G 0.140 4.44 0.0054 Thompson et al., 2013 DNA SEQ MSH6_08630
9 c.3932A>T - p.E1311V 0.123 11.86 0.0447 Thompson et al., 2013 DNA SEQ MSH6_08631
9 c.3933A>C - p.E1311D 0.085 3.70 0.0028 Thompson et al., 2013 DNA SEQ MSH6_08632
9 c.3933A>T - p.E1311D 0.085 3.70 0.0028 Thompson et al., 2013 DNA SEQ MSH6_08633
9 c.3934G>A - p.V1312I 0.029 3.00 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08634
9 c.3934G>C - p.V1312L 0.250 11.32 0.0674 Thompson et al., 2013 DNA SEQ MSH6_08635
9 c.3934G>T - p.V1312F 0.882 9.66 0.4269 Thompson et al., 2013 DNA SEQ MSH6_08636
9 c.3935T>A - p.V1312D 0.954 31.76 0.9379 Thompson et al., 2013 DNA SEQ MSH6_08637
9 c.3935T>C - p.V1312A 0.873 19.26 0.7745 Thompson et al., 2013 DNA SEQ MSH6_08638
9 c.3935T>G - p.V1312G 0.954 14.37 0.7138 Thompson et al., 2013 DNA SEQ MSH6_08639
9 c.3937A>C - p.I1313L 0.284 10.23 0.0623 Thompson et al., 2013 DNA SEQ MSH6_08640
9 c.3937A>G - p.I1313V 0.103 4.72 0.0053 Thompson et al., 2013 DNA SEQ MSH6_08641
9 c.3937A>T - p.I1313F 0.973 8.75 0.4672 Thompson et al., 2013 DNA SEQ MSH6_08642
9 c.3938T>A - p.I1313N 0.988 15.23 0.7669 Thompson et al., 2013 DNA SEQ MSH6_08643
9 c.3938T>C - p.I1313T 0.392 13.81 0.1722 Thompson et al., 2013 DNA SEQ MSH6_08644
9 c.3938T>G - p.I1313S 0.956 13.17 0.6736 Thompson et al., 2013 DNA SEQ MSH6_08645
9 c.3939T>G - p.I1313M 0.966 14.77 0.7364 Thompson et al., 2013 DNA SEQ MSH6_08646
9 c.3940C>A - p.Q1314K 0.029 2.86 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08647
9 c.3940C>G - p.Q1314E 0.048 5.00 0.0048 Thompson et al., 2013 DNA SEQ MSH6_08648
9 c.3941A>C - p.Q1314P 0.643 10.23 0.2346 Thompson et al., 2013 DNA SEQ MSH6_08649
9 c.3941A>G - p.Q1314R 0.083 2.94 0.0017 Thompson et al., 2013 DNA SEQ MSH6_08650
9 c.3941A>T - p.Q1314L 0.138 3.14 0.0024 Thompson et al., 2013 DNA SEQ MSH6_08651
9 c.3942A>C - p.Q1314H 0.219 1.88 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08652
9 c.3942A>T - p.Q1314H 0.219 1.88 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08653
9 c.3943A>C - p.K1315Q 0.139 2.37 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08654
9 c.3943A>G - p.K1315E 0.084 5.79 0.0077 Thompson et al., 2013 DNA SEQ MSH6_08655
9 c.3944A>C - p.K1315T 0.036 2.99 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08656
9 c.3944A>G - p.K1315R 0.019 3.16 0.0015 Thompson et al., 2013 DNA SEQ MSH6_08657
9 c.3944A>T - p.K1315M 0.099 3.67 0.0029 Thompson et al., 2013 DNA SEQ MSH6_08658
9 c.3945G>C - p.K1315N 0.028 2.44 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08659
9 c.3945G>T - p.K1315N 0.028 2.44 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08660
9 c.3946G>A - p.G1316R 0.906 44.46 0.9635 Thompson et al., 2013 DNA SEQ MSH6_08661
9 c.3946G>C - p.G1316R 0.906 44.46 0.9635 Thompson et al., 2013 DNA SEQ MSH6_08662
9 c.3947G>A - p.G1316E 0.840 39.69 0.9390 Thompson et al., 2013 DNA SEQ MSH6_08663
9 c.3947G>C - p.G1316A 0.028 2.34 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08664
9 c.3947G>T - p.G1316V 0.678 28.93 0.7903 Thompson et al., 2013 DNA SEQ MSH6_08665
9 c.3949C>A - p.H1317N 0.106 3.60 0.0029 Thompson et al., 2013 DNA SEQ MSH6_08666
9 c.3949C>G - p.H1317D 0.063 5.63 0.0066 Thompson et al., 2013 DNA SEQ MSH6_08667
9 c.3949C>T - p.H1317Y 0.007 4.86 0.0038 Thompson et al., 2013 DNA SEQ MSH6_08668
9 c.3950A>C - p.H1317P 0.124 10.57 0.0349 Thompson et al., 2013 DNA SEQ MSH6_08669
9 c.3950A>G - p.H1317R 0.025 3.51 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08670
9 c.3950A>T - p.H1317L 0.026 4.14 0.0028 Thompson et al., 2013 DNA SEQ MSH6_08671
9 c.3951T>A - p.H1317Q 0.025 2.77 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08672
9 c.3951T>G - p.H1317Q 0.025 2.77 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08673
9 c.3952A>G - p.R1318G 0.019 10.69 0.0232 Thompson et al., 2013 DNA SEQ MSH6_08674
9 c.3953G>A - p.R1318K 0.006 1.12 0.0001 Thompson et al., 2013 DNA SEQ MSH6_08675
9 c.3953G>C - p.R1318T 0.036 8.13 0.0135 Thompson et al., 2013 DNA SEQ MSH6_08676
9 c.3953G>T - p.R1318I 0.028 21.67 0.1093 Thompson et al., 2013 DNA SEQ MSH6_08677
9 c.3954A>C - p.R1318S 0.022 7.95 0.0121 Thompson et al., 2013 DNA SEQ MSH6_08678
9 c.3954A>T - p.R1318S 0.022 7.95 0.0121 Thompson et al., 2013 DNA SEQ MSH6_08679
9 c.3955A>C - p.K1319Q 0.656 14.08 0.4009 Thompson et al., 2013 DNA SEQ MSH6_08680
9 c.3955A>G - p.K1319E 0.422 23.70 0.4460 Thompson et al., 2013 DNA SEQ MSH6_08681
9 c.3956A>C - p.K1319T 0.422 27.99 0.5402 Thompson et al., 2013 DNA SEQ MSH6_08682
9 c.3956A>G - p.K1319R 0.422 7.31 0.0528 Thompson et al., 2013 DNA SEQ MSH6_08683
9 c.3956A>T - p.K1319I 0.294 25.96 0.3647 Thompson et al., 2013 DNA SEQ MSH6_08684
9 c.3957A>C - p.K1319N 0.952 14.55 0.7178 Thompson et al., 2013 DNA SEQ MSH6_08685
9 c.3957A>T - p.K1319N 0.952 14.55 0.7178 Thompson et al., 2013 DNA SEQ MSH6_08686
9 c.3958G>A - p.A1320T 0.392 16.52 0.2380 Thompson et al., 2013 DNA SEQ MSH6_08687
9 c.3958G>C - p.A1320P 0.973 16.99 0.7982 Thompson et al., 2013 DNA SEQ MSH6_08688
9 c.3958G>T - p.A1320S 0.190 9.31 0.0347 Thompson et al., 2013 DNA SEQ MSH6_08689
9 c.3959C>A - p.A1320E 0.767 38.35 0.9126 Thompson et al., 2013 DNA SEQ MSH6_08690
9 c.3959C>G - p.A1320G 0.934 8.06 0.3813 Thompson et al., 2013 DNA SEQ MSH6_08691
9 c.3959C>T - p.A1320V 0.940 20.91 0.8463 Thompson et al., 2013 DNA SEQ MSH6_08692
9 c.3961A>G - p.R1321G 0.107 23.30 0.1684 Thompson et al., 2013 DNA SEQ MSH6_08693
9 c.3962G>A - p.R1321K 0.006 2.23 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08694
9 c.3962G>C - p.R1321T 0.006 21.75 0.1012 Thompson et al., 2013 DNA SEQ MSH6_08695
9 c.3962G>T - p.R1321I 0.139 25.83 0.2267 Thompson et al., 2013 DNA SEQ MSH6_08696
9 c.3963A>C - p.R1321S 0.022 19.38 0.0849 Thompson et al., 2013 DNA SEQ MSH6_08697
9 c.3963A>T - p.R1321S 0.022 19.38 0.0849 Thompson et al., 2013 DNA SEQ MSH6_08698
9 c.3964G>A - p.E1322K 0.085 3.18 0.0020 Thompson et al., 2013 DNA SEQ MSH6_08699
9 c.3964G>C - p.E1322Q 0.290 3.98 0.0079 Thompson et al., 2013 DNA SEQ MSH6_08700
8601 - 8700
[<<] [<-] ... 82 83 84 85 86 87 88 89 90 [->] [>>]

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