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
6 c.3509T>C - p.I1170T 0.038 8.75 0.0161 Thompson et al., 2013 DNA SEQ MSH6_07701
6 c.3509T>G - p.I1170S 0.090 7.92 0.0160 Thompson et al., 2013 DNA SEQ MSH6_07702
6 c.3510T>G - p.I1170M 0.038 11.64 0.0303 Thompson et al., 2013 DNA SEQ MSH6_07703
6 c.3511G>A - p.D1171N 1.000 13.97 0.7400 Thompson et al., 2013 DNA SEQ MSH6_07704
6 c.3511G>C - p.D1171H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_07705
6 c.3511G>T - p.D1171Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ MSH6_07706
6 c.3512A>C - p.D1171A 1.000 29.51 0.9395 Thompson et al., 2013 DNA SEQ MSH6_07707
6 c.3512A>G - p.D1171G 0.999 20.85 0.8755 Thompson et al., 2013 DNA SEQ MSH6_07708
6 c.3512A>T - p.D1171V 0.999 22.25 0.8907 Thompson et al., 2013 DNA SEQ MSH6_07709
6 c.3513T>A - p.D1171E 0.999 23.98 0.9062 Thompson et al., 2013 DNA SEQ MSH6_07710
6 c.3513T>G - p.D1171E 0.999 23.98 0.9062 Thompson et al., 2013 DNA SEQ MSH6_07711
6 c.3514A>G - p.R1172G 0.862 25.90 0.8652 Thompson et al., 2013 DNA SEQ MSH6_07712
6 c.3515G>A - p.R1172K 0.651 6.07 0.0884 Thompson et al., 2013 DNA SEQ MSH6_07713
6 c.3515G>C - p.R1172T 0.852 26.48 0.8661 Thompson et al., 2013 DNA SEQ MSH6_07714
6 c.3515G>T - p.R1172I 0.992 26.94 0.9243 Thompson et al., 2013 DNA SEQ MSH6_07715
6 c.3516A>C - p.R1172S 0.862 21.57 0.8091 Thompson et al., 2013 DNA SEQ MSH6_07716
6 c.3516A>T - p.R1172S 0.862 21.57 0.8091 Thompson et al., 2013 DNA SEQ MSH6_07717
6 c.3517G>A - p.V1173M 0.755 18.75 0.6615 Thompson et al., 2013 DNA SEQ MSH6_07718
6 c.3517G>C - p.V1173L 0.284 14.59 0.1295 Thompson et al., 2013 DNA SEQ MSH6_07719
6 c.3517G>T - p.V1173L 0.284 14.59 0.1295 Thompson et al., 2013 DNA SEQ MSH6_07720
6 c.3518T>A - p.V1173E 0.970 29.83 0.9334 Thompson et al., 2013 DNA SEQ MSH6_07721
6 c.3518T>C - p.V1173A 0.836 22.03 0.7992 Thompson et al., 2013 DNA SEQ MSH6_07722
6 c.3518T>G - p.V1173G 0.970 15.08 0.7487 Thompson et al., 2013 DNA SEQ MSH6_07723
6 c.3520T>A - p.F1174I 0.829 10.86 0.4368 Thompson et al., 2013 DNA SEQ MSH6_07724
6 c.3520T>C - p.F1174L 0.766 12.82 0.4636 Thompson et al., 2013 DNA SEQ MSH6_07725
6 c.3520T>G - p.F1174V 0.959 17.61 0.8017 Thompson et al., 2013 DNA SEQ MSH6_07726
6 c.3521T>A - p.F1174Y 0.524 16.28 0.3465 Thompson et al., 2013 DNA SEQ MSH6_07727
6 c.3521T>C - p.F1174S 0.989 19.43 0.8517 Thompson et al., 2013 DNA SEQ MSH6_07728
6 c.3521T>G - p.F1174C 0.852 17.91 0.7270 Thompson et al., 2013 DNA SEQ MSH6_07729
6 c.3522T>A - p.F1174L 0.766 12.82 0.4636 Thompson et al., 2013 DNA SEQ MSH6_07730
6 c.3522T>G - p.F1174L 0.766 12.82 0.4636 Thompson et al., 2013 DNA SEQ MSH6_07731
6 c.3523A>C - p.T1175P 0.994 43.72 0.9737 Thompson et al., 2013 DNA SEQ MSH6_07732
6 c.3523A>G - p.T1175A 0.980 37.99 0.9620 Thompson et al., 2013 DNA SEQ MSH6_07733
6 c.3523A>T - p.T1175S 0.823 11.33 0.4542 Thompson et al., 2013 DNA SEQ MSH6_07734
6 c.3524C>A - p.T1175N 0.992 20.18 0.8637 Thompson et al., 2013 DNA SEQ MSH6_07735
6 c.3524C>G - p.T1175S 0.823 11.33 0.4542 Thompson et al., 2013 DNA SEQ MSH6_07736
6 c.3524C>T - p.T1175I 0.987 33.48 0.9514 Thompson et al., 2013 DNA SEQ MSH6_07737
6 c.3526A>G - p.R1176G 1.000 25.90 0.9204 Thompson et al., 2013 DNA SEQ MSH6_07738
6 c.3527G>A - p.R1176K 1.000 6.07 0.3002 Thompson et al., 2013 DNA SEQ MSH6_07739
6 c.3527G>C - p.R1176T 1.000 26.48 0.9240 Thompson et al., 2013 DNA SEQ MSH6_07740
6 c.3527G>T - p.R1176I 1.000 26.94 0.9267 Thompson et al., 2013 DNA SEQ MSH6_07741
6 c.3528A>C - p.R1176S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_07742
6 c.3528A>T - p.R1176S 1.000 21.57 0.8841 Thompson et al., 2013 DNA SEQ MSH6_07743
6 c.3529C>A - p.L1177I 0.419 15.46 0.2316 Thompson et al., 2013 DNA SEQ MSH6_07744
6 c.3529C>G - p.L1177V 0.392 25.80 0.4621 Thompson et al., 2013 DNA SEQ MSH6_07745
6 c.3529C>T - p.L1177F 0.973 12.59 0.6670 Thompson et al., 2013 DNA SEQ MSH6_07746
6 c.3530T>A - p.L1177H 0.988 20.32 0.8636 Thompson et al., 2013 DNA SEQ MSH6_07747
6 c.3530T>C - p.L1177P 0.988 36.32 0.9594 Thompson et al., 2013 DNA SEQ MSH6_07748
6 c.3530T>G - p.L1177R 0.988 33.02 0.9501 Thompson et al., 2013 DNA SEQ MSH6_07749
6 c.3532G>A - p.G1178S 1.000 7.50 0.4095 Thompson et al., 2013 DNA SEQ MSH6_07750
6 c.3532G>C - p.G1178R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_07751
6 c.3532G>T - p.G1178C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_07752
6 c.3533G>A - p.G1178D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ MSH6_07753
6 c.3533G>C - p.G1178A 1.000 22.05 0.8891 Thompson et al., 2013 DNA SEQ MSH6_07754
6 c.3533G>T - p.G1178V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_07755
6 c.3535G>A - p.A1179T 0.998 33.24 0.9528 Thompson et al., 2013 DNA SEQ MSH6_07756
6 c.3535G>C - p.A1179P 1.000 38.15 0.9653 Thompson et al., 2013 DNA SEQ MSH6_07757
6 c.3535G>T - p.A1179S 0.984 23.39 0.8954 Thompson et al., 2013 DNA SEQ MSH6_07758
6 c.3536C>A - p.A1179D 1.000 43.15 0.9736 Thompson et al., 2013 DNA SEQ MSH6_07759
6 c.3536C>G - p.A1179G 0.999 22.29 0.8911 Thompson et al., 2013 DNA SEQ MSH6_07760
6 c.3536C>T - p.A1179V 0.998 35.49 0.9591 Thompson et al., 2013 DNA SEQ MSH6_07761
6 c.3538T>A - p.S1180T 0.302 10.42 0.0696 Thompson et al., 2013 DNA SEQ MSH6_07762
6 c.3538T>C - p.S1180P 0.952 23.03 0.8783 Thompson et al., 2013 DNA SEQ MSH6_07763
6 c.3538T>G - p.S1180A 0.381 10.67 0.0995 Thompson et al., 2013 DNA SEQ MSH6_07764
6 c.3539C>T - p.S1180L 0.520 7.55 0.0835 Thompson et al., 2013 DNA SEQ MSH6_07765
6 c.3541G>A - p.D1181N 1.000 13.97 0.7400 Thompson et al., 2013 DNA SEQ MSH6_07766
6 c.3541G>C - p.D1181H 1.000 20.32 0.8695 Thompson et al., 2013 DNA SEQ MSH6_07767
6 c.3541G>T - p.D1181Y 1.000 21.06 0.8784 Thompson et al., 2013 DNA SEQ MSH6_07768
6 c.3542A>C - p.D1181A 1.000 29.51 0.9395 Thompson et al., 2013 DNA SEQ MSH6_07769
6 c.3542A>G - p.D1181G 1.000 20.85 0.8760 Thompson et al., 2013 DNA SEQ MSH6_07770
6 c.3542A>T - p.D1181V 1.000 22.25 0.8911 Thompson et al., 2013 DNA SEQ MSH6_07771
6 c.3543C>A - p.D1181E 1.000 23.98 0.9066 Thompson et al., 2013 DNA SEQ MSH6_07772
6 c.3543C>G - p.D1181E 1.000 23.98 0.9066 Thompson et al., 2013 DNA SEQ MSH6_07773
6 c.3544A>G - p.R1182G 0.859 11.31 0.4914 Thompson et al., 2013 DNA SEQ MSH6_07774
6 c.3545G>A - p.R1182K 0.422 2.11 0.0033 Thompson et al., 2013 DNA SEQ MSH6_07775
6 c.3545G>C - p.R1182T 0.738 8.35 0.2247 Thompson et al., 2013 DNA SEQ MSH6_07776
6 c.3545G>T - p.R1182I 0.876 23.32 0.8430 Thompson et al., 2013 DNA SEQ MSH6_07777
6 c.3546A>C - p.R1182S 0.444 8.59 0.0812 Thompson et al., 2013 DNA SEQ MSH6_07778
6 c.3546A>T - p.R1182S 0.444 8.59 0.0812 Thompson et al., 2013 DNA SEQ MSH6_07779
6 c.3547A>C - p.I1183L 0.718 10.44 0.3065 Thompson et al., 2013 DNA SEQ MSH6_07780
6 c.3547A>G - p.I1183V 0.954 10.65 0.5582 Thompson et al., 2013 DNA SEQ MSH6_07781
6 c.3547A>T - p.I1183L 0.718 10.44 0.3065 Thompson et al., 2013 DNA SEQ MSH6_07782
6 c.3548T>A - p.I1183K 0.996 28.51 0.9339 Thompson et al., 2013 DNA SEQ MSH6_07783
6 c.3548T>C - p.I1183T 0.992 19.60 0.8557 Thompson et al., 2013 DNA SEQ MSH6_07784
6 c.3548T>G - p.I1183R 0.996 32.56 0.9502 Thompson et al., 2013 DNA SEQ MSH6_07785
6 c.3549A>G - p.I1183M 0.887 15.70 0.6962 Thompson et al., 2013 DNA SEQ MSH6_07786
6 c.3550A>C - p.M1184L 0.014 5.49 0.0051 Thompson et al., 2013 DNA SEQ MSH6_07787
6 c.3550A>G - p.M1184V 0.065 26.26 0.1817 Thompson et al., 2013 DNA SEQ MSH6_07788
6 c.3550A>T - p.M1184L 0.014 5.49 0.0051 Thompson et al., 2013 DNA SEQ MSH6_07789
6 c.3551T>A - p.M1184K 0.731 33.47 0.8680 Thompson et al., 2013 DNA SEQ MSH6_07790
6 c.3551T>C - p.M1184T 0.201 21.42 0.1998 Thompson et al., 2013 DNA SEQ MSH6_07791
6 c.3551T>G - p.M1184R 0.894 39.14 0.9494 Thompson et al., 2013 DNA SEQ MSH6_07792
6 c.3552G>A - p.M1184I 0.121 16.97 0.0947 Thompson et al., 2013 DNA SEQ MSH6_07793
6 c.3552G>C - p.M1184I 0.121 16.97 0.0947 Thompson et al., 2013 DNA SEQ MSH6_07794
6 c.3552G>T - p.M1184I 0.121 16.97 0.0947 Thompson et al., 2013 DNA SEQ MSH6_07795
6 c.3553T>A - p.S1185T 0.006 4.45 0.0031 Thompson et al., 2013 DNA SEQ MSH6_07796
6 c.3553T>C - p.S1185P 0.543 10.84 0.1859 Thompson et al., 2013 DNA SEQ MSH6_07797
6 c.3553T>G - p.S1185A 0.004 6.19 0.0064 Thompson et al., 2013 DNA SEQ MSH6_07798
6 c.3554C>T - p.S1185L 0.059 10.01 0.0237 Thompson et al., 2013 DNA SEQ MSH6_07799
6 c.3556G>A - p.G1186S 0.949 7.50 0.3581 Thompson et al., 2013 DNA SEQ MSH6_07800
7701 - 7800
[<<] [<-] ... 73 74 75 76 77 78 79 80 81 82 83 ... [->] [>>]

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