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
4 c.2871A>C - p.K957N 0.293 8.26 0.0407 Thompson et al., 2013 DNA SEQ MSH6_06301
4 c.2871A>T - p.K957N 0.293 8.26 0.0407 Thompson et al., 2013 DNA SEQ MSH6_06302
4 c.2872C>A - p.Q958K 0.298 27.25 0.3946 Thompson et al., 2013 DNA SEQ MSH6_06303
4 c.2872C>G - p.Q958E 0.648 26.89 0.7375 Thompson et al., 2013 DNA SEQ MSH6_06304
4 c.2873A>C - p.Q958P 0.894 39.94 0.9516 Thompson et al., 2013 DNA SEQ MSH6_06305
4 c.2873A>G - p.Q958R 0.833 33.70 0.9116 Thompson et al., 2013 DNA SEQ MSH6_06306
4 c.2873A>T - p.Q958L 0.075 19.88 0.1097 Thompson et al., 2013 DNA SEQ MSH6_06307
4 c.2874G>C - p.Q958H 0.938 14.36 0.6993 Thompson et al., 2013 DNA SEQ MSH6_06308
4 c.2874G>T - p.Q958H 0.938 14.36 0.6993 Thompson et al., 2013 DNA SEQ MSH6_06309
4 c.2875C>A - p.R959S 0.238 19.38 0.1889 Thompson et al., 2013 DNA SEQ MSH6_06310
4 c.2875C>G - p.R959G 0.482 23.30 0.5001 Thompson et al., 2013 DNA SEQ MSH6_06311
4 c.2875C>T - p.R959C 0.279 26.12 0.3532 Thompson et al., 2013 DNA SEQ MSH6_06312
4 c.2876G>A - p.R959H 0.893 10.24 0.4713 Thompson et al., 2013 DNA SEQ MSH6_06313
4 c.2876G>C - p.R959P 0.937 26.39 0.9021 Thompson et al., 2013 DNA SEQ MSH6_06314
4 c.2876G>T - p.R959L 0.856 20.75 0.7909 Thompson et al., 2013 DNA SEQ MSH6_06315
4 c.2878A>C - p.N960H 0.003 4.27 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06316
4 c.2878A>G - p.N960D 0.001 5.43 0.0047 Thompson et al., 2013 DNA SEQ MSH6_06317
4 c.2878A>T - p.N960Y 0.008 8.61 0.0137 Thompson et al., 2013 DNA SEQ MSH6_06318
4 c.2879A>C - p.N960T 0.000 7.09 0.0085 Thompson et al., 2013 DNA SEQ MSH6_06319
4 c.2879A>G - p.N960S 0.000 4.43 0.0030 Thompson et al., 2013 DNA SEQ MSH6_06320
4 c.2879A>T - p.N960I 0.008 13.23 0.0354 Thompson et al., 2013 DNA SEQ MSH6_06321
4 c.2880C>A - p.N960K 0.000 1.19 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06322
4 c.2880C>G - p.N960K 0.000 1.19 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06323
4 c.2881A>G - p.R961G 0.340 25.58 0.4031 Thompson et al., 2013 DNA SEQ MSH6_06324
4 c.2882G>A - p.R961K 0.004 1.93 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06325
4 c.2882G>C - p.R961T 0.006 18.89 0.0756 Thompson et al., 2013 DNA SEQ MSH6_06326
4 c.2882G>T - p.R961I 0.019 11.41 0.0268 Thompson et al., 2013 DNA SEQ MSH6_06327
4 c.2883A>C - p.R961S 0.036 19.91 0.0948 Thompson et al., 2013 DNA SEQ MSH6_06328
4 c.2883A>T - p.R961S 0.036 19.91 0.0948 Thompson et al., 2013 DNA SEQ MSH6_06329
4 c.2884A>C - p.I962L 0.001 1.10 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06330
4 c.2884A>G - p.I962V 0.002 12.92 0.0328 Thompson et al., 2013 DNA SEQ MSH6_06331
4 c.2884A>T - p.I962F 0.001 8.39 0.0125 Thompson et al., 2013 DNA SEQ MSH6_06332
4 c.2885T>A - p.I962N 0.199 22.68 0.2199 Thompson et al., 2013 DNA SEQ MSH6_06333
4 c.2885T>C - p.I962T 0.022 20.20 0.0925 Thompson et al., 2013 DNA SEQ MSH6_06334
4 c.2885T>G - p.I962S 0.022 23.48 0.1254 Thompson et al., 2013 DNA SEQ MSH6_06335
4 c.2886T>G - p.I962M 0.007 6.89 0.0083 Thompson et al., 2013 DNA SEQ MSH6_06336
4 c.2887G>A - p.G963S 0.114 2.88 0.0018 Thompson et al., 2013 DNA SEQ MSH6_06337
4 c.2887G>C - p.G963R 0.308 36.76 0.5730 Thompson et al., 2013 DNA SEQ MSH6_06338
4 c.2887G>T - p.G963C 0.943 14.56 0.7103 Thompson et al., 2013 DNA SEQ MSH6_06339
4 c.2888G>A - p.G963D 0.439 37.84 0.7146 Thompson et al., 2013 DNA SEQ MSH6_06340
4 c.2888G>C - p.G963A 0.536 15.29 0.3261 Thompson et al., 2013 DNA SEQ MSH6_06341
4 c.2888G>T - p.G963V 0.883 22.87 0.8411 Thompson et al., 2013 DNA SEQ MSH6_06342
4 c.2890T>A - p.C964S 0.010 11.49 0.0262 Thompson et al., 2013 DNA SEQ MSH6_06343
4 c.2890T>C - p.C964R 0.139 33.50 0.3460 Thompson et al., 2013 DNA SEQ MSH6_06344
4 c.2890T>G - p.C964G 0.036 15.22 0.0538 Thompson et al., 2013 DNA SEQ MSH6_06345
4 c.2891G>A - p.C964Y 0.515 13.00 0.2344 Thompson et al., 2013 DNA SEQ MSH6_06346
4 c.2891G>C - p.C964S 0.010 11.49 0.0262 Thompson et al., 2013 DNA SEQ MSH6_06347
4 c.2891G>T - p.C964F 0.515 7.40 0.0785 Thompson et al., 2013 DNA SEQ MSH6_06348
4 c.2892T>G - p.C964W 0.344 15.07 0.1713 Thompson et al., 2013 DNA SEQ MSH6_06349
4 c.2893A>G - p.R965G 0.024 6.39 0.0075 Thompson et al., 2013 DNA SEQ MSH6_06350
4 c.2893A>T - p.R965W 0.653 12.24 0.3246 Thompson et al., 2013 DNA SEQ MSH6_06351
4 c.2894G>A - p.R965K 0.002 1.82 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06352
4 c.2894G>C - p.R965T 0.004 13.17 0.0345 Thompson et al., 2013 DNA SEQ MSH6_06353
4 c.2894G>T - p.R965M 0.274 8.03 0.0354 Thompson et al., 2013 DNA SEQ MSH6_06354
4 c.2895G>C - p.R965S 0.001 3.49 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06355
4 c.2895G>T - p.R965S 0.001 3.49 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06356
4 c.2896A>C - p.T966P 0.130 9.89 0.0309 Thompson et al., 2013 DNA SEQ MSH6_06357
4 c.2896A>G - p.T966A 0.018 6.76 0.0083 Thompson et al., 2013 DNA SEQ MSH6_06358
4 c.2896A>T - p.T966S 0.002 1.30 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06359
4 c.2897C>A - p.T966N 0.002 2.09 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06360
4 c.2897C>G - p.T966S 0.002 1.30 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06361
4 c.2897C>T - p.T966I 0.130 6.73 0.0131 Thompson et al., 2013 DNA SEQ MSH6_06362
4 c.2899A>C - p.I967L 0.016 3.99 0.0025 Thompson et al., 2013 DNA SEQ MSH6_06363
4 c.2899A>G - p.I967V 0.007 5.14 0.0043 Thompson et al., 2013 DNA SEQ MSH6_06364
4 c.2899A>T - p.I967L 0.016 3.99 0.0025 Thompson et al., 2013 DNA SEQ MSH6_06365
4 c.2900T>A - p.I967K 0.747 30.67 0.8523 Thompson et al., 2013 DNA SEQ MSH6_06366
4 c.2900T>C - p.I967T 0.593 10.12 0.1947 Thompson et al., 2013 DNA SEQ MSH6_06367
4 c.2900T>G - p.I967R 0.831 37.60 0.9291 Thompson et al., 2013 DNA SEQ MSH6_06368
4 c.2901A>G - p.I967M 0.153 7.72 0.0197 Thompson et al., 2013 DNA SEQ MSH6_06369
4 c.2902G>A - p.V968I 0.059 2.51 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06370
4 c.2902G>C - p.V968L 0.018 4.44 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06371
4 c.2902G>T - p.V968F 0.436 4.60 0.0203 Thompson et al., 2013 DNA SEQ MSH6_06372
4 c.2903T>A - p.V968D 0.019 32.15 0.2242 Thompson et al., 2013 DNA SEQ MSH6_06373
4 c.2903T>C - p.V968A 0.019 5.53 0.0053 Thompson et al., 2013 DNA SEQ MSH6_06374
4 c.2903T>G - p.V968G 0.059 3.87 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06375
4 c.2905T>A - p.Y969N 0.988 21.05 0.8727 Thompson et al., 2013 DNA SEQ MSH6_06376
4 c.2905T>C - p.Y969H 0.988 17.57 0.8198 Thompson et al., 2013 DNA SEQ MSH6_06377
4 c.2905T>G - p.Y969D 0.988 28.51 0.9318 Thompson et al., 2013 DNA SEQ MSH6_06378
4 c.2906A>C - p.Y969S 0.958 17.30 0.7945 Thompson et al., 2013 DNA SEQ MSH6_06379
4 c.2906A>G - p.Y969C 0.996 14.49 0.7524 Thompson et al., 2013 DNA SEQ MSH6_06380
4 c.2906A>T - p.Y969F 0.181 6.26 0.0139 Thompson et al., 2013 DNA SEQ MSH6_06381
4 c.2908T>A - p.W970R 0.053 8.02 0.0141 Thompson et al., 2013 DNA SEQ MSH6_06382
4 c.2908T>C - p.W970R 0.053 8.02 0.0141 Thompson et al., 2013 DNA SEQ MSH6_06383
4 c.2908T>G - p.W970G 0.065 14.29 0.0529 Thompson et al., 2013 DNA SEQ MSH6_06384
4 c.2909G>C - p.W970S 0.037 8.58 0.0153 Thompson et al., 2013 DNA SEQ MSH6_06385
4 c.2909G>T - p.W970L 0.037 10.63 0.0247 Thompson et al., 2013 DNA SEQ MSH6_06386
4 c.2910G>C - p.W970C 0.067 11.68 0.0344 Thompson et al., 2013 DNA SEQ MSH6_06387
4 c.2910G>T - p.W970C 0.067 11.68 0.0344 Thompson et al., 2013 DNA SEQ MSH6_06388
4 c.2911G>A - p.G971R 0.293 36.59 0.5547 Thompson et al., 2013 DNA SEQ MSH6_06389
4 c.2911G>C - p.G971R 0.293 36.59 0.5547 Thompson et al., 2013 DNA SEQ MSH6_06390
4 c.2911G>T - p.G971W 0.910 15.82 0.7200 Thompson et al., 2013 DNA SEQ MSH6_06391
4 c.2912G>A - p.G971E 0.219 34.68 0.4459 Thompson et al., 2013 DNA SEQ MSH6_06392
4 c.2912G>C - p.G971A 0.191 17.01 0.1242 Thompson et al., 2013 DNA SEQ MSH6_06393
4 c.2912G>T - p.G971V 0.520 24.83 0.5760 Thompson et al., 2013 DNA SEQ MSH6_06394
4 c.2914A>C - p.I972L 0.022 6.45 0.0076 Thompson et al., 2013 DNA SEQ MSH6_06395
4 c.2914A>G - p.I972V 0.000 2.27 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06396
4 c.2914A>T - p.I972F 0.212 5.79 0.0132 Thompson et al., 2013 DNA SEQ MSH6_06397
4 c.2915T>A - p.I972N 0.012 10.92 0.0236 Thompson et al., 2013 DNA SEQ MSH6_06398
4 c.2915T>C - p.I972T 0.004 1.04 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06399
4 c.2915T>G - p.I972S 0.001 1.87 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06400
6301 - 6400
[<<] [<-] ... 59 60 61 62 63 64 65 66 67 68 69 ... [->] [>>]

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