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 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
?/? 4 c.2825C>T - p.A942V 0.139 7.57 0.0178 Thompson et al., 2013 DNA SEQ MSH6_06201 - - -
?/? 4 c.2827G>A - p.D943N 0.119 4.31 0.0046 Thompson et al., 2013 DNA SEQ MSH6_06202 - - -
?/? 4 c.2827G>C - p.D943H 0.219 8.98 0.0361 Thompson et al., 2013 DNA SEQ MSH6_06203 - - -
?/? 4 c.2827G>T - p.D943Y 0.143 12.27 0.0522 Thompson et al., 2013 DNA SEQ MSH6_06204 - - -
?/? 4 c.2828A>C - p.D943A 0.069 9.71 0.0231 Thompson et al., 2013 DNA SEQ MSH6_06205 - - -
?/? 4 c.2828A>G - p.D943G 0.014 7.23 0.0095 Thompson et al., 2013 DNA SEQ MSH6_06206 - - -
?/? 4 c.2828A>T - p.D943V 0.086 15.07 0.0644 Thompson et al., 2013 DNA SEQ MSH6_06207 - - -
?/? 4 c.2829C>A - p.D943E 0.016 9.45 0.0174 Thompson et al., 2013 DNA SEQ MSH6_06208 - - -
?/? 4 c.2829C>G - p.D943E 0.016 9.45 0.0174 Thompson et al., 2013 DNA SEQ MSH6_06209 - - -
?/? 4 c.2830A>C - p.I944L 0.162 10.44 0.0397 Thompson et al., 2013 DNA SEQ MSH6_06210 - - -
?/? 4 c.2830A>G - p.I944V 0.022 10.65 0.0233 Thompson et al., 2013 DNA SEQ MSH6_06211 - - -
?/? 4 c.2830A>T - p.I944L 0.162 10.44 0.0397 Thompson et al., 2013 DNA SEQ MSH6_06212 - - -
?/? 4 c.2831T>A - p.I944K 0.848 28.51 0.8826 Thompson et al., 2013 DNA SEQ MSH6_06213 - - -
?/? 4 c.2831T>C - p.I944T 0.790 19.60 0.7150 Thompson et al., 2013 DNA SEQ MSH6_06214 - - -
?/? 4 c.2831T>G - p.I944R 0.689 32.56 0.8378 Thompson et al., 2013 DNA SEQ MSH6_06215 - - -
?/? 4 c.2832A>G - p.I944M 0.365 15.70 0.1987 Thompson et al., 2013 DNA SEQ MSH6_06216 - - -
?/? 4 c.2833A>G - p.R945G 0.005 3.51 0.0018 Thompson et al., 2013 DNA SEQ MSH6_06217 - - -
?/? 4 c.2834G>A - p.R945K 0.000 1.32 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06218 - - -
?/? 4 c.2834G>C - p.R945T 0.005 4.83 0.0037 Thompson et al., 2013 DNA SEQ MSH6_06219 - - -
?/? 4 c.2834G>T - p.R945I 0.063 5.90 0.0074 Thompson et al., 2013 DNA SEQ MSH6_06220 - - -
?/? 4 c.2835A>C - p.R945S 0.009 2.61 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06221 - - -
?/? 4 c.2835A>T - p.R945S 0.009 2.61 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06222 - - -
?/? 4 c.2836G>A - p.E946K 0.066 2.62 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06223 - - -
?/? 4 c.2836G>C - p.E946Q 0.066 2.04 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06224 - - -
?/? 4 c.2837A>C - p.E946A 0.013 3.87 0.0023 Thompson et al., 2013 DNA SEQ MSH6_06225 - - -
?/? 4 c.2837A>G - p.E946G 0.019 2.74 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06226 - - -
?/? 4 c.2837A>T - p.E946V 0.019 5.55 0.0053 Thompson et al., 2013 DNA SEQ MSH6_06227 - - -
?/? 4 c.2838A>C - p.E946D 0.011 2.24 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06228 - - -
?/? 4 c.2838A>T - p.E946D 0.011 2.24 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06229 - - -
?/? 4 c.2839A>C - p.N947H 0.020 11.60 0.0279 Thompson et al., 2013 DNA SEQ MSH6_06230 - - -
?/? 4 c.2839A>G - p.N947D 0.056 24.50 0.1544 Thompson et al., 2013 DNA SEQ MSH6_06231 - - -
?/? 4 c.2839A>T - p.N947Y 0.005 4.09 0.0025 Thompson et al., 2013 DNA SEQ MSH6_06232 - - -
?/? 4 c.2840A>C - p.N947T 0.001 1.88 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06233 - - -
?/? 4 c.2840A>G - p.N947S 0.014 2.35 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06234 - - -
?/? 4 c.2840A>T - p.N947I 0.001 3.60 0.0019 Thompson et al., 2013 DNA SEQ MSH6_06235 - - -
?/? 4 c.2841T>A - p.N947K 0.035 23.84 0.1356 Thompson et al., 2013 DNA SEQ MSH6_06236 - - -
?/? 4 c.2841T>G - p.N947K 0.035 23.84 0.1356 Thompson et al., 2013 DNA SEQ MSH6_06237 - - -
?/? 4 c.2842G>A - p.E948K 0.130 2.09 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06238 - - -
?/? 4 c.2842G>C - p.E948Q 0.536 2.92 0.0112 Thompson et al., 2013 DNA SEQ MSH6_06239 - - -
?/? 4 c.2843A>C - p.E948A 0.833 19.07 0.7390 Thompson et al., 2013 DNA SEQ MSH6_06240 - - -
?/? 4 c.2843A>G - p.E948G 0.902 10.45 0.4923 Thompson et al., 2013 DNA SEQ MSH6_06241 - - -
?/? 4 c.2843A>T - p.E948V 0.286 26.38 0.3652 Thompson et al., 2013 DNA SEQ MSH6_06242 - - -
?/? 4 c.2844A>C - p.E948D 0.439 4.26 0.0173 Thompson et al., 2013 DNA SEQ MSH6_06243 - - -
?/? 4 c.2844A>T - p.E948D 0.439 4.26 0.0173 Thompson et al., 2013 DNA SEQ MSH6_06244 - - -
?/? 4 c.2845C>A - p.Q949K 0.004 1.72 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06245 - - -
?/? 4 c.2845C>G - p.Q949E 0.006 2.22 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06246 - - -
?/? 4 c.2846A>C - p.Q949P 0.322 10.44 0.0756 Thompson et al., 2013 DNA SEQ MSH6_06247 - - -
?/? 4 c.2846A>G - p.Q949R 0.011 3.22 0.0015 Thompson et al., 2013 DNA SEQ MSH6_06248 - - -
?/? 4 c.2846A>T - p.Q949L 0.034 21.96 0.1148 Thompson et al., 2013 DNA SEQ MSH6_06249 - - -
?/? 4 c.2847G>C - p.Q949H 0.059 2.97 0.0015 Thompson et al., 2013 DNA SEQ MSH6_06250 - - -
?/? 4 c.2847G>T - p.Q949H 0.059 2.97 0.0015 Thompson et al., 2013 DNA SEQ MSH6_06251 - - -
?/? 4 c.2848A>C - p.S950R 0.034 2.50 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06252 - - -
?/? 4 c.2848A>G - p.S950G 0.034 2.61 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06253 - - -
?/? 4 c.2848A>T - p.S950C 0.162 3.19 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06254 - - -
?/? 4 c.2849G>A - p.S950N 0.084 1.50 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06255 - - -
?/? 4 c.2849G>C - p.S950T 0.212 2.88 0.0027 Thompson et al., 2013 DNA SEQ MSH6_06256 - - -
?/? 4 c.2849G>T - p.S950I 0.139 3.55 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06257 - - -
?/? 4 c.2850C>A - p.S950R 0.034 2.50 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06258 - - -
?/? 4 c.2850C>G - p.S950R 0.034 2.50 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06259 - - -
?/? 4 c.2851C>A - p.L951I 0.750 7.34 0.1854 Thompson et al., 2013 DNA SEQ MSH6_06260 - - -
?/? 4 c.2851C>G - p.L951V 0.546 12.51 0.2425 Thompson et al., 2013 DNA SEQ MSH6_06261 - - -
?/? 4 c.2851C>T - p.L951F 0.370 5.18 0.0200 Thompson et al., 2013 DNA SEQ MSH6_06262 - - -
?/? 4 c.2852T>A - p.L951H 0.992 14.66 0.7542 Thompson et al., 2013 DNA SEQ MSH6_06263 - - -
?/? 4 c.2852T>C - p.L951P 0.977 17.38 0.8090 Thompson et al., 2013 DNA SEQ MSH6_06264 - - -
?/? 4 c.2852T>G - p.L951R 0.986 34.04 0.9529 Thompson et al., 2013 DNA SEQ MSH6_06265 - - -
?/? 4 c.2854C>A - p.L952M 0.012 1.96 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06266 - - -
?/? 4 c.2854C>G - p.L952V 0.020 4.20 0.0029 Thompson et al., 2013 DNA SEQ MSH6_06267 - - -
?/? 4 c.2855T>A - p.L952Q 0.001 1.41 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06268 - - -
?/? 4 c.2855T>C - p.L952P 0.092 6.29 0.0096 Thompson et al., 2013 DNA SEQ MSH6_06269 - - -
?/? 4 c.2855T>G - p.L952R 0.003 2.77 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06270 - - -
?/? 4 c.2857G>A - p.E953K 0.008 1.88 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06271 - - -
?/? 4 c.2857G>C - p.E953Q 0.019 2.53 0.0009 Thompson et al., 2013 DNA SEQ MSH6_06272 - - -
?/? 4 c.2858A>C - p.E953A 0.011 8.28 0.0127 Thompson et al., 2013 DNA SEQ MSH6_06273 - - -
?/? 4 c.2858A>G - p.E953G 0.013 5.69 0.0055 Thompson et al., 2013 DNA SEQ MSH6_06274 - - -
?/? 4 c.2858A>T - p.E953V 0.013 11.14 0.0248 Thompson et al., 2013 DNA SEQ MSH6_06275 - - -
?/? 4 c.2859A>C - p.E953D 0.002 2.86 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06276 - - -
?/? 4 c.2859A>T - p.E953D 0.002 2.86 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06277 - - -
?/? 4 c.2860T>A - p.Y954N 0.935 21.04 0.8453 Thompson et al., 2013 DNA SEQ MSH6_06278 - - -
?/? 4 c.2860T>C - p.Y954H 0.192 17.57 0.1329 Thompson et al., 2013 DNA SEQ MSH6_06279 - - -
?/? 4 c.2860T>G - p.Y954D 0.896 28.52 0.9023 Thompson et al., 2013 DNA SEQ MSH6_06280 - - -
?/? 4 c.2861A>C - p.Y954S 0.422 17.31 0.2830 Thompson et al., 2013 DNA SEQ MSH6_06281 - - -
?/? 4 c.2861A>G - p.Y954C 0.777 14.49 0.5446 Thompson et al., 2013 DNA SEQ MSH6_06282 - - -
?/? 4 c.2861A>T - p.Y954F 0.198 6.28 0.0150 Thompson et al., 2013 DNA SEQ MSH6_06283 - - -
?/? 4 c.2863C>A - p.L955I 0.777 6.07 0.1423 Thompson et al., 2013 DNA SEQ MSH6_06284 - - -
?/? 4 c.2863C>G - p.L955V 0.943 13.78 0.6839 Thompson et al., 2013 DNA SEQ MSH6_06285 - - -
?/? 4 c.2864T>A - p.L955Q 0.943 5.77 0.2307 Thompson et al., 2013 DNA SEQ MSH6_06286 - - -
?/? 4 c.2864T>C - p.L955P 0.980 28.87 0.9314 Thompson et al., 2013 DNA SEQ MSH6_06287 - - -
?/? 4 c.2864T>G - p.L955R 0.777 4.93 0.0938 Thompson et al., 2013 DNA SEQ MSH6_06288 - - -
?/? 4 c.2866G>A - p.E956K 0.004 6.33 0.0067 Thompson et al., 2013 DNA SEQ MSH6_06289 - - -
?/? 4 c.2866G>C - p.E956Q 0.032 6.53 0.0081 Thompson et al., 2013 DNA SEQ MSH6_06290 - - -
?/? 4 c.2867A>C - p.E956A 0.018 19.63 0.0858 Thompson et al., 2013 DNA SEQ MSH6_06291 - - -
?/? 4 c.2867A>G - p.E956G 0.037 10.69 0.0250 Thompson et al., 2013 DNA SEQ MSH6_06292 - - -
?/? 4 c.2867A>T - p.E956V 0.004 28.17 0.1673 Thompson et al., 2013 DNA SEQ MSH6_06293 - - -
?/? 4 c.2868G>C - p.E956D 0.004 1.49 0.0003 Thompson et al., 2013 DNA SEQ MSH6_06294 - - -
?/? 4 c.2868G>T - p.E956D 0.004 1.49 0.0003 Thompson et al., 2013 DNA SEQ MSH6_06295 - - -
?/? 4 c.2869A>C - p.K957Q 0.119 5.76 0.0089 Thompson et al., 2013 DNA SEQ MSH6_06296 - - -
?/? 4 c.2869A>G - p.K957E 0.010 5.83 0.0057 Thompson et al., 2013 DNA SEQ MSH6_06297 - - -
?/? 4 c.2870A>C - p.K957T 0.086 11.82 0.0382 Thompson et al., 2013 DNA SEQ MSH6_06298 - - -
?/? 4 c.2870A>G - p.K957R 0.051 3.91 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06299 - - -
?/? 4 c.2870A>T - p.K957I 0.293 21.97 0.2813 Thompson et al., 2013 DNA SEQ MSH6_06300 - - -
6201 - 6300
[<<] [<-] ... 58 59 60 61 62 63 64 65 66 67 68 ... [->] [>>]

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.
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. MSH6 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