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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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?/? 4 c.2736G>C - p.W912C 0.910 10.41 0.4987 Thompson et al., 2013 DNA SEQ MSH6_06001 - - -
?/? 4 c.2736G>T - p.W912C 0.910 10.41 0.4987 Thompson et al., 2013 DNA SEQ MSH6_06002 - - -
?/? 4 c.2737G>A - p.D913N 0.549 4.27 0.0275 Thompson et al., 2013 DNA SEQ MSH6_06003 - - -
?/? 4 c.2737G>C - p.D913H 0.819 5.73 0.1483 Thompson et al., 2013 DNA SEQ MSH6_06004 - - -
?/? 4 c.2737G>T - p.D913Y 0.665 6.35 0.1024 Thompson et al., 2013 DNA SEQ MSH6_06005 - - -
?/? 4 c.2738A>C - p.D913A 0.119 19.03 0.1186 Thompson et al., 2013 DNA SEQ MSH6_06006 - - -
?/? 4 c.2738A>G - p.D913G 0.408 9.56 0.0881 Thompson et al., 2013 DNA SEQ MSH6_06007 - - -
?/? 4 c.2738A>T - p.D913V 0.051 27.27 0.1856 Thompson et al., 2013 DNA SEQ MSH6_06008 - - -
?/? 4 c.2739T>A - p.D913E 0.010 2.94 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06009 - - -
?/? 4 c.2739T>G - p.D913E 0.010 2.94 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06010 - - -
?/? 4 c.2740A>C - p.T914P 0.643 8.44 0.1653 Thompson et al., 2013 DNA SEQ MSH6_06011 - - -
?/? 4 c.2740A>G - p.T914A 0.119 6.81 0.0129 Thompson et al., 2013 DNA SEQ MSH6_06012 - - -
?/? 4 c.2740A>T - p.T914S 0.029 1.33 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06013 - - -
?/? 4 c.2741C>A - p.T914K 0.014 4.54 0.0033 Thompson et al., 2013 DNA SEQ MSH6_06014 - - -
?/? 4 c.2741C>G - p.T914R 0.083 4.63 0.0046 Thompson et al., 2013 DNA SEQ MSH6_06015 - - -
?/? 4 c.2741C>T - p.T914I 0.665 7.00 0.1246 Thompson et al., 2013 DNA SEQ MSH6_06016 - - -
?/? 4 c.2743G>A - p.A915T 0.101 17.95 0.0984 Thompson et al., 2013 DNA SEQ MSH6_06017 - - -
?/? 4 c.2743G>C - p.A915P 0.647 17.75 0.5214 Thompson et al., 2013 DNA SEQ MSH6_06018 - - -
?/? 4 c.2743G>T - p.A915S 0.030 10.30 0.0224 Thompson et al., 2013 DNA SEQ MSH6_06019 - - -
?/? 4 c.2744C>A - p.A915D 0.572 40.56 0.8378 Thompson et al., 2013 DNA SEQ MSH6_06020 - - -
?/? 4 c.2744C>G - p.A915G 0.422 8.72 0.0768 Thompson et al., 2013 DNA SEQ MSH6_06021 - - -
?/? 4 c.2744C>T - p.A915V 0.101 22.41 0.1530 Thompson et al., 2013 DNA SEQ MSH6_06022 - - -
?/? 4 c.2746T>A - p.F916I 0.610 10.86 0.2338 Thompson et al., 2013 DNA SEQ MSH6_06023 - - -
?/? 4 c.2746T>C - p.F916L 0.610 12.82 0.3078 Thompson et al., 2013 DNA SEQ MSH6_06024 - - -
?/? 4 c.2746T>G - p.F916V 0.659 17.61 0.5297 Thompson et al., 2013 DNA SEQ MSH6_06025 - - -
?/? 4 c.2747T>A - p.F916Y 0.659 16.28 0.4851 Thompson et al., 2013 DNA SEQ MSH6_06026 - - -
?/? 4 c.2747T>C - p.F916S 0.969 19.43 0.8406 Thompson et al., 2013 DNA SEQ MSH6_06027 - - -
?/? 4 c.2747T>G - p.F916C 0.992 17.91 0.8286 Thompson et al., 2013 DNA SEQ MSH6_06028 - - -
?/? 4 c.2748T>A - p.F916L 0.610 12.82 0.3078 Thompson et al., 2013 DNA SEQ MSH6_06029 - - -
?/? 4 c.2748T>G - p.F916L 0.610 12.82 0.3078 Thompson et al., 2013 DNA SEQ MSH6_06030 - - -
?/? 4 c.2749G>A - p.D917N 0.357 5.46 0.0213 Thompson et al., 2013 DNA SEQ MSH6_06031 - - -
?/? 4 c.2749G>C - p.D917H 0.984 11.47 0.6295 Thompson et al., 2013 DNA SEQ MSH6_06032 - - -
?/? 4 c.2749G>T - p.D917Y 0.829 18.05 0.7107 Thompson et al., 2013 DNA SEQ MSH6_06033 - - -
?/? 4 c.2750A>C - p.D917A 0.949 22.94 0.8759 Thompson et al., 2013 DNA SEQ MSH6_06034 - - -
?/? 4 c.2750A>G - p.D917G 0.953 17.43 0.7938 Thompson et al., 2013 DNA SEQ MSH6_06035 - - -
?/? 4 c.2750A>T - p.D917V 0.503 26.91 0.6027 Thompson et al., 2013 DNA SEQ MSH6_06036 - - -
?/? 4 c.2751C>A - p.D917E 0.591 22.24 0.5888 Thompson et al., 2013 DNA SEQ MSH6_06037 - - -
?/? 4 c.2751C>G - p.D917E 0.591 22.24 0.5888 Thompson et al., 2013 DNA SEQ MSH6_06038 - - -
?/? 4 c.2752C>A - p.H918N 0.821 7.56 0.2478 Thompson et al., 2013 DNA SEQ MSH6_06039 - - -
?/? 4 c.2752C>G - p.H918D 0.757 19.80 0.6905 Thompson et al., 2013 DNA SEQ MSH6_06040 - - -
?/? 4 c.2752C>T - p.H918Y 0.731 10.60 0.3259 Thompson et al., 2013 DNA SEQ MSH6_06041 - - -
?/? 4 c.2753A>C - p.H918P 0.125 16.40 0.0897 Thompson et al., 2013 DNA SEQ MSH6_06042 - - -
?/? 4 c.2753A>G - p.H918R 0.101 22.42 0.1531 Thompson et al., 2013 DNA SEQ MSH6_06043 - - -
?/? 4 c.2753A>T - p.H918L 0.070 26.36 0.1862 Thompson et al., 2013 DNA SEQ MSH6_06044 - - -
?/? 4 c.2754T>A - p.H918Q 0.121 3.57 0.0030 Thompson et al., 2013 DNA SEQ MSH6_06045 - - -
?/? 4 c.2754T>G - p.H918Q 0.121 3.57 0.0030 Thompson et al., 2013 DNA SEQ MSH6_06046 - - -
?/? 4 c.2755G>A - p.E919K 0.035 2.86 0.0013 Thompson et al., 2013 DNA SEQ MSH6_06047 - - -
?/? 4 c.2755G>C - p.E919Q 0.097 2.47 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06048 - - -
?/? 4 c.2756A>C - p.E919A 0.137 20.33 0.1444 Thompson et al., 2013 DNA SEQ MSH6_06049 - - -
?/? 4 c.2756A>G - p.E919G 0.101 11.06 0.0351 Thompson et al., 2013 DNA SEQ MSH6_06050 - - -
?/? 4 c.2756A>T - p.E919V 0.030 28.47 0.1869 Thompson et al., 2013 DNA SEQ MSH6_06051 - - -
?/? 4 c.2757A>C - p.E919D 0.033 4.81 0.0041 Thompson et al., 2013 DNA SEQ MSH6_06052 - - -
?/? 4 c.2757A>T - p.E919D 0.033 4.81 0.0041 Thompson et al., 2013 DNA SEQ MSH6_06053 - - -
?/? 4 c.2758A>C - p.K920Q 0.060 2.99 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06054 - - -
?/? 4 c.2758A>G - p.K920E 0.058 9.50 0.0210 Thompson et al., 2013 DNA SEQ MSH6_06055 - - -
?/? 4 c.2759A>C - p.K920T 0.060 18.50 0.0894 Thompson et al., 2013 DNA SEQ MSH6_06056 - - -
?/? 4 c.2759A>G - p.K920R 0.218 4.17 0.0065 Thompson et al., 2013 DNA SEQ MSH6_06057 - - -
?/? 4 c.2759A>T - p.K920M 0.218 10.65 0.0521 Thompson et al., 2013 DNA SEQ MSH6_06058 - - -
?/? 4 c.2760G>C - p.K920N 0.689 8.20 0.1842 Thompson et al., 2013 DNA SEQ MSH6_06059 - - -
?/? 4 c.2760G>T - p.K920N 0.689 8.20 0.1842 Thompson et al., 2013 DNA SEQ MSH6_06060 - - -
?/? 4 c.2761G>A - p.A921T 0.991 33.24 0.9514 Thompson et al., 2013 DNA SEQ MSH6_06061 - - -
?/? 4 c.2761G>C - p.A921P 0.947 38.15 0.9569 Thompson et al., 2013 DNA SEQ MSH6_06062 - - -
?/? 4 c.2761G>T - p.A921S 0.872 23.39 0.8416 Thompson et al., 2013 DNA SEQ MSH6_06063 - - -
?/? 4 c.2762C>A - p.A921D 0.968 43.15 0.9698 Thompson et al., 2013 DNA SEQ MSH6_06064 - - -
?/? 4 c.2762C>G - p.A921G 0.953 22.29 0.8706 Thompson et al., 2013 DNA SEQ MSH6_06065 - - -
?/? 4 c.2762C>T - p.A921V 0.872 35.49 0.9319 Thompson et al., 2013 DNA SEQ MSH6_06066 - - -
?/? 4 c.2764C>G - p.R922G 0.666 23.36 0.6878 Thompson et al., 2013 DNA SEQ MSH6_06067 - - -
?/? 4 c.2765G>A - p.R922Q 0.215 10.63 0.0512 Thompson et al., 2013 DNA SEQ MSH6_06068 - - -
?/? 4 c.2765G>C - p.R922P 0.898 27.15 0.8928 Thompson et al., 2013 DNA SEQ MSH6_06069 - - -
?/? 4 c.2765G>T - p.R922L 0.079 20.69 0.1207 Thompson et al., 2013 DNA SEQ MSH6_06070 - - -
?/? 4 c.2767A>C - p.K923Q 0.559 2.12 0.0060 Thompson et al., 2013 DNA SEQ MSH6_06071 - - -
?/? 4 c.2767A>G - p.K923E 0.085 2.89 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06072 - - -
?/? 4 c.2768A>C - p.K923T 0.123 5.29 0.0074 Thompson et al., 2013 DNA SEQ MSH6_06073 - - -
?/? 4 c.2768A>G - p.K923R 0.326 2.34 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06074 - - -
?/? 4 c.2768A>T - p.K923M 0.861 4.36 0.1007 Thompson et al., 2013 DNA SEQ MSH6_06075 - - -
?/? 4 c.2769G>C - p.K923N 0.140 3.28 0.0027 Thompson et al., 2013 DNA SEQ MSH6_06076 - - -
?/? 4 c.2769G>T - p.K923N 0.140 3.28 0.0027 Thompson et al., 2013 DNA SEQ MSH6_06077 - - -
?/? 4 c.2770A>C - p.T924P 0.219 13.96 0.0925 Thompson et al., 2013 DNA SEQ MSH6_06078 - - -
?/? 4 c.2770A>G - p.T924A 0.191 8.46 0.0282 Thompson et al., 2013 DNA SEQ MSH6_06079 - - -
?/? 4 c.2770A>T - p.T924S 0.029 1.74 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06080 - - -
?/? 4 c.2771C>A - p.T924N 0.083 1.81 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06081 - - -
?/? 4 c.2771C>G - p.T924S 0.029 1.74 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06082 - - -
?/? 4 c.2771C>T - p.T924I 0.191 7.91 0.0243 Thompson et al., 2013 DNA SEQ MSH6_06083 - - -
?/? 4 c.2773G>A - p.G925R 0.870 36.52 0.9354 Thompson et al., 2013 DNA SEQ MSH6_06084 - - -
?/? 4 c.2773G>C - p.G925R 0.870 36.52 0.9354 Thompson et al., 2013 DNA SEQ MSH6_06085 - - -
?/? 4 c.2774G>A - p.G925E 0.594 35.36 0.8060 Thompson et al., 2013 DNA SEQ MSH6_06086 - - -
?/? 4 c.2774G>C - p.G925A 0.720 22.05 0.7087 Thompson et al., 2013 DNA SEQ MSH6_06087 - - -
?/? 4 c.2774G>T - p.G925V 0.944 29.36 0.9237 Thompson et al., 2013 DNA SEQ MSH6_06088 - - -
?/? 4 c.2776C>A - p.L926I 0.004 1.23 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06089 - - -
?/? 4 c.2776C>G - p.L926V 0.002 2.09 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06090 - - -
?/? 4 c.2776C>T - p.L926F 0.023 2.96 0.0013 Thompson et al., 2013 DNA SEQ MSH6_06091 - - -
?/? 4 c.2777T>A - p.L926H 0.528 3.27 0.0139 Thompson et al., 2013 DNA SEQ MSH6_06092 - - -
?/? 4 c.2777T>C - p.L926P 0.449 14.24 0.2213 Thompson et al., 2013 DNA SEQ MSH6_06093 - - -
?/? 4 c.2777T>G - p.L926R 0.022 4.41 0.0032 Thompson et al., 2013 DNA SEQ MSH6_06094 - - -
?/? 4 c.2779A>C - p.I927L 0.192 10.44 0.0449 Thompson et al., 2013 DNA SEQ MSH6_06095 - - -
?/? 4 c.2779A>G - p.I927V 0.064 10.65 0.0277 Thompson et al., 2013 DNA SEQ MSH6_06096 - - -
?/? 4 c.2779A>T - p.I927F 0.072 10.65 0.0287 Thompson et al., 2013 DNA SEQ MSH6_06097 - - -
?/? 4 c.2780T>A - p.I927N 0.952 17.95 0.8038 Thompson et al., 2013 DNA SEQ MSH6_06098 - - -
?/? 4 c.2780T>C - p.I927T 0.838 19.60 0.7548 Thompson et al., 2013 DNA SEQ MSH6_06099 - - -
?/? 4 c.2780T>G - p.I927S 0.838 20.83 0.7795 Thompson et al., 2013 DNA SEQ MSH6_06100 - - -
6001 - 6100
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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.
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.

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