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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 MSH6_priors

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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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9 c.3965A>C - p.E1322A 0.417 19.56 0.3377 Thompson et al., 2013 DNA SEQ MSH6_08701
9 c.3965A>G - p.E1322G 0.850 10.87 0.4594 Thompson et al., 2013 DNA SEQ MSH6_08702
9 c.3965A>T - p.E1322V 0.336 27.66 0.4422 Thompson et al., 2013 DNA SEQ MSH6_08703
9 c.3966A>C - p.E1322D 0.140 3.62 0.0034 Thompson et al., 2013 DNA SEQ MSH6_08704
9 c.3966A>T - p.E1322D 0.140 3.62 0.0034 Thompson et al., 2013 DNA SEQ MSH6_08705
9 c.3967T>A - p.F1323I 0.636 8.98 0.1812 Thompson et al., 2013 DNA SEQ MSH6_08706
9 c.3967T>C - p.F1323L 0.111 7.94 0.0176 Thompson et al., 2013 DNA SEQ MSH6_08707
9 c.3967T>G - p.F1323V 0.163 12.58 0.0597 Thompson et al., 2013 DNA SEQ MSH6_08708
9 c.3968T>A - p.F1323Y 0.411 13.48 0.1759 Thompson et al., 2013 DNA SEQ MSH6_08709
9 c.3968T>C - p.F1323S 0.893 12.69 0.5919 Thompson et al., 2013 DNA SEQ MSH6_08710
9 c.3968T>G - p.F1323C 0.962 11.15 0.5920 Thompson et al., 2013 DNA SEQ MSH6_08711
9 c.3969T>A - p.F1323L 0.111 7.94 0.0176 Thompson et al., 2013 DNA SEQ MSH6_08712
9 c.3969T>G - p.F1323L 0.111 7.94 0.0176 Thompson et al., 2013 DNA SEQ MSH6_08713
9 c.3970G>A - p.E1324K 0.945 19.98 0.8353 Thompson et al., 2013 DNA SEQ MSH6_08714
9 c.3970G>C - p.E1324Q 0.978 13.20 0.6950 Thompson et al., 2013 DNA SEQ MSH6_08715
9 c.3971A>C - p.E1324A 0.945 24.45 0.8891 Thompson et al., 2013 DNA SEQ MSH6_08716
9 c.3971A>G - p.E1324G 0.997 28.23 0.9328 Thompson et al., 2013 DNA SEQ MSH6_08717
9 c.3971A>T - p.E1324V 0.991 31.34 0.9449 Thompson et al., 2013 DNA SEQ MSH6_08718
9 c.3972G>C - p.E1324D 0.953 13.31 0.6761 Thompson et al., 2013 DNA SEQ MSH6_08719
9 c.3972G>T - p.E1324D 0.953 13.31 0.6761 Thompson et al., 2013 DNA SEQ MSH6_08720
9 c.3973A>C - p.K1325Q 0.029 1.99 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08721
9 c.3973A>G - p.K1325E 0.007 2.28 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08722
9 c.3974A>C - p.K1325T 0.036 9.00 0.0170 Thompson et al., 2013 DNA SEQ MSH6_08723
9 c.3974A>G - p.K1325R 0.006 3.50 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08724
9 c.3974A>T - p.K1325M 0.142 5.78 0.0098 Thompson et al., 2013 DNA SEQ MSH6_08725
9 c.3975G>C - p.K1325N 0.035 5.12 0.0048 Thompson et al., 2013 DNA SEQ MSH6_08726
9 c.3975G>T - p.K1325N 0.035 5.12 0.0048 Thompson et al., 2013 DNA SEQ MSH6_08727
9 c.3976A>C - p.M1326L 0.000 3.56 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08728
9 c.3976A>G - p.M1326V 0.000 3.21 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08729
9 c.3976A>T - p.M1326L 0.000 3.56 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08730
9 c.3977T>A - p.M1326K 0.000 4.28 0.0027 Thompson et al., 2013 DNA SEQ MSH6_08731
9 c.3977T>C - p.M1326T 0.000 2.17 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08732
9 c.3977T>G - p.M1326R 0.007 4.98 0.0040 Thompson et al., 2013 DNA SEQ MSH6_08733
9 c.3978G>A - p.M1326I 0.001 3.05 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08734
9 c.3978G>C - p.M1326I 0.001 3.05 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08735
9 c.3978G>T - p.M1326I 0.001 3.05 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08736
9 c.3979A>C - p.N1327H 0.001 11.31 0.0244 Thompson et al., 2013 DNA SEQ MSH6_08737
9 c.3979A>G - p.N1327D 0.001 24.77 0.1290 Thompson et al., 2013 DNA SEQ MSH6_08738
9 c.3979A>T - p.N1327Y 0.000 4.71 0.0034 Thompson et al., 2013 DNA SEQ MSH6_08739
9 c.3980A>C - p.N1327T 0.000 1.71 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08740
9 c.3980A>G - p.N1327S 0.000 1.75 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08741
9 c.3980A>T - p.N1327I 0.001 5.26 0.0044 Thompson et al., 2013 DNA SEQ MSH6_08742
9 c.3981T>A - p.N1327K 0.000 23.37 0.1144 Thompson et al., 2013 DNA SEQ MSH6_08743
9 c.3981T>G - p.N1327K 0.000 23.37 0.1144 Thompson et al., 2013 DNA SEQ MSH6_08744
9 c.3982C>A - p.Q1328K 0.001 2.72 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08745
9 c.3982C>G - p.Q1328E 0.004 2.28 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08746
9 c.3983A>C - p.Q1328P 0.147 5.65 0.0095 Thompson et al., 2013 DNA SEQ MSH6_08747
9 c.3983A>G - p.Q1328R 0.010 3.22 0.0015 Thompson et al., 2013 DNA SEQ MSH6_08748
9 c.3983A>T - p.Q1328L 0.002 3.00 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08749
9 c.3984G>C - p.Q1328H 0.038 2.04 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08750
9 c.3984G>T - p.Q1328H 0.038 2.04 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08751
9 c.3985T>A - p.S1329T 0.001 6.08 0.0061 Thompson et al., 2013 DNA SEQ MSH6_08752
9 c.3985T>C - p.S1329P 0.038 9.87 0.0210 Thompson et al., 2013 DNA SEQ MSH6_08753
9 c.3985T>G - p.S1329A 0.000 4.56 0.0032 Thompson et al., 2013 DNA SEQ MSH6_08754
9 c.3986C>T - p.S1329L 0.001 4.40 0.0029 Thompson et al., 2013 DNA SEQ MSH6_08755
9 c.3988C>A - p.L1330I 0.312 4.05 0.0091 Thompson et al., 2013 DNA SEQ MSH6_08756
9 c.3988C>G - p.L1330V 0.082 9.11 0.0211 Thompson et al., 2013 DNA SEQ MSH6_08757
9 c.3989T>A - p.L1330Q 0.792 13.24 0.5095 Thompson et al., 2013 DNA SEQ MSH6_08758
9 c.3989T>C - p.L1330P 0.936 20.40 0.8365 Thompson et al., 2013 DNA SEQ MSH6_08759
9 c.3989T>G - p.L1330R 0.088 37.42 0.3537 Thompson et al., 2013 DNA SEQ MSH6_08760
9 c.3991C>G - p.R1331G 0.053 7.43 0.0119 Thompson et al., 2013 DNA SEQ MSH6_08761
9 c.3992G>A - p.R1331Q 0.022 4.18 0.0028 Thompson et al., 2013 DNA SEQ MSH6_08762
9 c.3992G>C - p.R1331P 0.401 22.53 0.3963 Thompson et al., 2013 DNA SEQ MSH6_08763
9 c.3992G>T - p.R1331L 0.087 9.96 0.0263 Thompson et al., 2013 DNA SEQ MSH6_08764
9 c.3994T>A - p.L1332I 0.009 2.99 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08765
9 c.3994T>G - p.L1332V 0.008 6.24 0.0066 Thompson et al., 2013 DNA SEQ MSH6_08766
9 c.3995T>C - p.L1332S 0.008 8.60 0.0136 Thompson et al., 2013 DNA SEQ MSH6_08767
9 c.3996A>C - p.L1332F 0.026 3.97 0.0026 Thompson et al., 2013 DNA SEQ MSH6_08768
9 c.3996A>T - p.L1332F 0.026 3.97 0.0026 Thompson et al., 2013 DNA SEQ MSH6_08769
9 c.3997T>A - p.F1333I 0.078 10.86 0.0307 Thompson et al., 2013 DNA SEQ MSH6_08770
9 c.3997T>C - p.F1333L 0.018 12.82 0.0345 Thompson et al., 2013 DNA SEQ MSH6_08771
9 c.3997T>G - p.F1333V 0.016 17.61 0.0678 Thompson et al., 2013 DNA SEQ MSH6_08772
9 c.3998T>A - p.F1333Y 0.407 16.28 0.2436 Thompson et al., 2013 DNA SEQ MSH6_08773
9 c.3998T>C - p.F1333S 0.208 19.43 0.1709 Thompson et al., 2013 DNA SEQ MSH6_08774
9 c.3998T>G - p.F1333C 0.790 17.91 0.6715 Thompson et al., 2013 DNA SEQ MSH6_08775
9 c.3999T>A - p.F1333L 0.018 12.82 0.0345 Thompson et al., 2013 DNA SEQ MSH6_08776
9 c.3999T>G - p.F1333L 0.018 12.82 0.0345 Thompson et al., 2013 DNA SEQ MSH6_08777
9 c.4000C>G - p.R1334G 0.181 24.31 0.2340 Thompson et al., 2013 DNA SEQ MSH6_08778
9 c.4000C>T - p.R1334W 0.908 20.04 0.8135 Thompson et al., 2013 DNA SEQ MSH6_08779
9 c.4001G>A - p.R1334Q 0.289 11.88 0.0870 Thompson et al., 2013 DNA SEQ MSH6_08780
9 c.4001G>C - p.R1334P 0.820 33.05 0.9032 Thompson et al., 2013 DNA SEQ MSH6_08781
9 c.4001G>T - p.R1334L 0.365 20.12 0.3034 Thompson et al., 2013 DNA SEQ MSH6_08782
10 c.4003G>A - p.E1335K 0.001 2.40 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08783
10 c.4003G>C - p.E1335Q 0.024 1.52 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08784
10 c.4004A>C - p.E1335A 0.004 3.53 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08785
10 c.4004A>G - p.E1335G 0.002 2.99 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08786
10 c.4004A>T - p.E1335V 0.005 5.71 0.0054 Thompson et al., 2013 DNA SEQ MSH6_08787
10 c.4005A>C - p.E1335D 0.005 2.85 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08788
10 c.4005A>T - p.E1335D 0.005 2.85 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08789
10 c.4006G>A - p.V1336I 0.005 1.23 0.0002 Thompson et al., 2013 DNA SEQ MSH6_08790
10 c.4006G>C - p.V1336L 0.001 2.91 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08791
10 c.4006G>T - p.V1336F 0.064 7.13 0.0113 Thompson et al., 2013 DNA SEQ MSH6_08792
10 c.4007T>A - p.V1336D 0.332 38.91 0.6284 Thompson et al., 2013 DNA SEQ MSH6_08793
10 c.4007T>C - p.V1336A 0.012 9.03 0.0155 Thompson et al., 2013 DNA SEQ MSH6_08794
10 c.4007T>G - p.V1336G 0.101 15.07 0.0684 Thompson et al., 2013 DNA SEQ MSH6_08795
10 c.4009T>A - p.C1337S 0.015 1.88 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08796
10 c.4009T>C - p.C1337R 0.012 8.18 0.0124 Thompson et al., 2013 DNA SEQ MSH6_08797
10 c.4009T>G - p.C1337G 0.015 3.08 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08798
10 c.4010G>A - p.C1337Y 0.107 3.08 0.0020 Thompson et al., 2013 DNA SEQ MSH6_08799
10 c.4010G>C - p.C1337S 0.015 1.88 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08800
8701 - 8800
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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: [ 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.

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