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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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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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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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MAPP score Hide MAPP score column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Reference Hide Reference column Descending
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4 c.2602A>G - p.M868V 0.000 5.42 0.0047 Thompson et al., 2013 DNA SEQ MSH6_05701
4 c.2602A>T - p.M868L 0.001 3.60 0.0019 Thompson et al., 2013 DNA SEQ MSH6_05702
4 c.2603T>A - p.M868K 0.037 24.91 0.1488 Thompson et al., 2013 DNA SEQ MSH6_05703
4 c.2603T>C - p.M868T 0.037 4.93 0.0044 Thompson et al., 2013 DNA SEQ MSH6_05704
4 c.2603T>G - p.M868R 0.141 27.77 0.2585 Thompson et al., 2013 DNA SEQ MSH6_05705
4 c.2604G>A - p.M868I 0.000 4.42 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05706
4 c.2604G>C - p.M868I 0.000 4.42 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05707
4 c.2604G>T - p.M868I 0.000 4.42 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05708
4 c.2605T>A - p.C869S 0.001 2.14 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05709
4 c.2605T>C - p.C869R 0.003 3.25 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05710
4 c.2605T>G - p.C869G 0.001 3.16 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05711
4 c.2606G>A - p.C869Y 0.001 2.94 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05712
4 c.2606G>C - p.C869S 0.001 2.14 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05713
4 c.2606G>T - p.C869F 0.001 1.89 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05714
4 c.2607T>G - p.C869W 0.147 3.54 0.0033 Thompson et al., 2013 DNA SEQ MSH6_05715
4 c.2608A>C - p.K870Q 0.050 2.05 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05716
4 c.2608A>G - p.K870E 0.010 2.96 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05717
4 c.2609A>C - p.K870T 0.061 5.06 0.0052 Thompson et al., 2013 DNA SEQ MSH6_05718
4 c.2609A>G - p.K870R 0.034 1.98 0.0006 Thompson et al., 2013 DNA SEQ MSH6_05719
4 c.2609A>T - p.K870I 0.139 3.21 0.0026 Thompson et al., 2013 DNA SEQ MSH6_05720
4 c.2610A>C - p.K870N 0.059 3.03 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05721
4 c.2610A>T - p.K870N 0.059 3.03 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05722
4 c.2611A>C - p.I871L 0.001 2.60 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05723
4 c.2611A>G - p.I871V 0.002 2.02 0.0005 Thompson et al., 2013 DNA SEQ MSH6_05724
4 c.2611A>T - p.I871F 0.022 3.29 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05725
4 c.2612T>A - p.I871N 0.199 10.36 0.0454 Thompson et al., 2013 DNA SEQ MSH6_05726
4 c.2612T>C - p.I871T 0.004 4.33 0.0029 Thompson et al., 2013 DNA SEQ MSH6_05727
4 c.2612T>G - p.I871S 0.007 3.98 0.0024 Thompson et al., 2013 DNA SEQ MSH6_05728
4 c.2613T>G - p.I871M 0.022 4.81 0.0039 Thompson et al., 2013 DNA SEQ MSH6_05729
4 c.2614A>C - p.I872L 0.007 3.83 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05730
4 c.2614A>G - p.I872V 0.002 1.60 0.0003 Thompson et al., 2013 DNA SEQ MSH6_05731
4 c.2614A>T - p.I872L 0.007 3.83 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05732
4 c.2615T>A - p.I872K 0.039 27.78 0.1843 Thompson et al., 2013 DNA SEQ MSH6_05733
4 c.2615T>C - p.I872T 0.005 6.17 0.0064 Thompson et al., 2013 DNA SEQ MSH6_05734
4 c.2615T>G - p.I872R 0.056 32.95 0.2635 Thompson et al., 2013 DNA SEQ MSH6_05735
4 c.2616A>G - p.I872M 0.013 7.03 0.0089 Thompson et al., 2013 DNA SEQ MSH6_05736
4 c.2617G>A - p.G873R 0.001 2.79 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05737
4 c.2617G>C - p.G873R 0.001 2.79 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05738
4 c.2617G>T - p.G873W 0.479 5.08 0.0302 Thompson et al., 2013 DNA SEQ MSH6_05739
4 c.2618G>A - p.G873E 0.001 3.91 0.0022 Thompson et al., 2013 DNA SEQ MSH6_05740
4 c.2618G>C - p.G873A 0.007 4.76 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05741
4 c.2618G>T - p.G873V 0.004 9.77 0.0178 Thompson et al., 2013 DNA SEQ MSH6_05742
4 c.2620A>C - p.I874L 0.000 1.25 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05743
4 c.2620A>G - p.I874V 0.000 5.42 0.0047 Thompson et al., 2013 DNA SEQ MSH6_05744
4 c.2620A>T - p.I874F 0.002 4.08 0.0025 Thompson et al., 2013 DNA SEQ MSH6_05745
4 c.2621T>A - p.I874N 0.010 6.45 0.0072 Thompson et al., 2013 DNA SEQ MSH6_05746
4 c.2621T>C - p.I874T 0.001 7.46 0.0096 Thompson et al., 2013 DNA SEQ MSH6_05747
4 c.2621T>G - p.I874S 0.001 7.32 0.0092 Thompson et al., 2013 DNA SEQ MSH6_05748
4 c.2622C>G - p.I874M 0.004 2.80 0.0011 Thompson et al., 2013 DNA SEQ MSH6_05749
4 c.2623A>C - p.M875L 0.000 4.49 0.0030 Thompson et al., 2013 DNA SEQ MSH6_05750
4 c.2623A>G - p.M875V 0.000 10.88 0.0223 Thompson et al., 2013 DNA SEQ MSH6_05751
4 c.2623A>T - p.M875L 0.000 4.49 0.0030 Thompson et al., 2013 DNA SEQ MSH6_05752
4 c.2624T>A - p.M875K 0.011 30.19 0.1950 Thompson et al., 2013 DNA SEQ MSH6_05753
4 c.2624T>C - p.M875T 0.004 10.43 0.0206 Thompson et al., 2013 DNA SEQ MSH6_05754
4 c.2624T>G - p.M875R 0.050 36.40 0.3042 Thompson et al., 2013 DNA SEQ MSH6_05755
4 c.2625G>A - p.M875I 0.001 7.07 0.0085 Thompson et al., 2013 DNA SEQ MSH6_05756
4 c.2625G>C - p.M875I 0.001 7.07 0.0085 Thompson et al., 2013 DNA SEQ MSH6_05757
4 c.2625G>T - p.M875I 0.001 7.07 0.0085 Thompson et al., 2013 DNA SEQ MSH6_05758
4 c.2626G>A - p.E876K 0.014 2.93 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05759
4 c.2626G>C - p.E876Q 0.048 2.97 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05760
4 c.2627A>C - p.E876A 0.048 19.85 0.0987 Thompson et al., 2013 DNA SEQ MSH6_05761
4 c.2627A>G - p.E876G 0.029 11.76 0.0298 Thompson et al., 2013 DNA SEQ MSH6_05762
4 c.2627A>T - p.E876V 0.051 29.80 0.2180 Thompson et al., 2013 DNA SEQ MSH6_05763
4 c.2628A>C - p.E876D 0.048 8.75 0.0168 Thompson et al., 2013 DNA SEQ MSH6_05764
4 c.2628A>T - p.E876D 0.048 8.75 0.0168 Thompson et al., 2013 DNA SEQ MSH6_05765
4 c.2629G>A - p.E877K 0.008 2.90 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05766
4 c.2629G>C - p.E877Q 0.033 2.80 0.0012 Thompson et al., 2013 DNA SEQ MSH6_05767
4 c.2630A>C - p.E877A 0.007 5.92 0.0059 Thompson et al., 2013 DNA SEQ MSH6_05768
4 c.2630A>G - p.E877G 0.002 3.54 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05769
4 c.2630A>T - p.E877V 0.007 9.39 0.0165 Thompson et al., 2013 DNA SEQ MSH6_05770
4 c.2631A>C - p.E877D 0.004 1.20 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05771
4 c.2631A>T - p.E877D 0.004 1.20 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05772
4 c.2632G>A - p.V878I 0.028 2.22 0.0007 Thompson et al., 2013 DNA SEQ MSH6_05773
4 c.2632G>C - p.V878L 0.019 3.63 0.0020 Thompson et al., 2013 DNA SEQ MSH6_05774
4 c.2632G>T - p.V878F 0.006 3.16 0.0014 Thompson et al., 2013 DNA SEQ MSH6_05775
4 c.2633T>A - p.V878D 0.010 5.45 0.0049 Thompson et al., 2013 DNA SEQ MSH6_05776
4 c.2633T>C - p.V878A 0.019 4.86 0.0039 Thompson et al., 2013 DNA SEQ MSH6_05777
4 c.2633T>G - p.V878G 0.059 3.17 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05778
4 c.2635G>A - p.A879T 0.006 4.16 0.0026 Thompson et al., 2013 DNA SEQ MSH6_05779
4 c.2635G>C - p.A879P 0.005 8.62 0.0135 Thompson et al., 2013 DNA SEQ MSH6_05780
4 c.2635G>T - p.A879S 0.002 3.73 0.0020 Thompson et al., 2013 DNA SEQ MSH6_05781
4 c.2636C>A - p.A879D 0.006 36.11 0.2625 Thompson et al., 2013 DNA SEQ MSH6_05782
4 c.2636C>G - p.A879G 0.003 4.14 0.0026 Thompson et al., 2013 DNA SEQ MSH6_05783
4 c.2636C>T - p.A879V 0.000 1.40 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05784
4 c.2638G>A - p.D880N 0.033 1.80 0.0004 Thompson et al., 2013 DNA SEQ MSH6_05785
4 c.2638G>C - p.D880H 0.160 3.89 0.0043 Thompson et al., 2013 DNA SEQ MSH6_05786
4 c.2638G>T - p.D880Y 0.601 5.80 0.0660 Thompson et al., 2013 DNA SEQ MSH6_05787
4 c.2639A>C - p.D880A 0.024 2.61 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05788
4 c.2639A>G - p.D880G 0.005 2.77 0.0010 Thompson et al., 2013 DNA SEQ MSH6_05789
4 c.2639A>T - p.D880V 0.251 6.03 0.0171 Thompson et al., 2013 DNA SEQ MSH6_05790
4 c.2640T>A - p.D880E 0.013 3.16 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05791
4 c.2640T>G - p.D880E 0.013 3.16 0.0015 Thompson et al., 2013 DNA SEQ MSH6_05792
4 c.2641G>A - p.G881S 0.005 3.45 0.0017 Thompson et al., 2013 DNA SEQ MSH6_05793
4 c.2641G>C - p.G881R 0.027 4.74 0.0039 Thompson et al., 2013 DNA SEQ MSH6_05794
4 c.2641G>T - p.G881C 0.633 7.11 0.1140 Thompson et al., 2013 DNA SEQ MSH6_05795
4 c.2642G>A - p.G881D 0.002 1.45 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05796
4 c.2642G>C - p.G881A 0.106 6.02 0.0093 Thompson et al., 2013 DNA SEQ MSH6_05797
4 c.2642G>T - p.G881V 0.112 9.62 0.0270 Thompson et al., 2013 DNA SEQ MSH6_05798
4 c.2644T>A - p.F882I 0.083 8.39 0.0177 Thompson et al., 2013 DNA SEQ MSH6_05799
4 c.2644T>C - p.F882L 0.014 7.95 0.0117 Thompson et al., 2013 DNA SEQ MSH6_05800
5701 - 5800
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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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