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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.2290A>C - p.T764P 0.154 9.30 0.0298 Thompson et al., 2013 DNA SEQ MSH6_05001 - - -
?/? 4 c.2290A>G - p.T764A 0.055 6.06 0.0076 Thompson et al., 2013 DNA SEQ MSH6_05002 - - -
?/? 4 c.2290A>T - p.T764S 0.006 1.23 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05003 - - -
?/? 4 c.2291C>A - p.T764N 0.012 2.84 0.0011 Thompson et al., 2013 DNA SEQ MSH6_05004 - - -
?/? 4 c.2291C>G - p.T764S 0.006 1.23 0.0002 Thompson et al., 2013 DNA SEQ MSH6_05005 - - -
?/? 4 c.2291C>T - p.T764I 0.093 4.07 0.0036 Thompson et al., 2013 DNA SEQ MSH6_05006 - - -
?/? 4 c.2293T>A - p.C765S 0.690 14.04 0.4345 Thompson et al., 2013 DNA SEQ MSH6_05007 - - -
?/? 4 c.2293T>C - p.C765R 0.988 34.86 0.9557 Thompson et al., 2013 DNA SEQ MSH6_05008 - - -
?/? 4 c.2293T>G - p.C765G 0.978 15.41 0.7640 Thompson et al., 2013 DNA SEQ MSH6_05009 - - -
?/? 4 c.2294G>A - p.C765Y 0.988 21.23 0.8749 Thompson et al., 2013 DNA SEQ MSH6_05010 - - -
?/? 4 c.2294G>C - p.C765S 0.690 14.04 0.4345 Thompson et al., 2013 DNA SEQ MSH6_05011 - - -
?/? 4 c.2294G>T - p.C765F 0.988 21.32 0.8759 Thompson et al., 2013 DNA SEQ MSH6_05012 - - -
?/? 4 c.2295C>G - p.C765W 0.996 32.95 0.9515 Thompson et al., 2013 DNA SEQ MSH6_05013 - - -
?/? 4 c.2296C>A - p.H766N 0.002 3.96 0.0023 Thompson et al., 2013 DNA SEQ MSH6_05014 - - -
?/? 4 c.2296C>G - p.H766D 0.007 5.30 0.0046 Thompson et al., 2013 DNA SEQ MSH6_05015 - - -
?/? 4 c.2296C>T - p.H766Y 0.000 3.70 0.0020 Thompson et al., 2013 DNA SEQ MSH6_05016 - - -
?/? 4 c.2297A>C - p.H766P 0.013 8.97 0.0153 Thompson et al., 2013 DNA SEQ MSH6_05017 - - -
?/? 4 c.2297A>G - p.H766R 0.001 3.37 0.0016 Thompson et al., 2013 DNA SEQ MSH6_05018 - - -
?/? 4 c.2297A>T - p.H766L 0.001 2.57 0.0009 Thompson et al., 2013 DNA SEQ MSH6_05019 - - -
?/? 4 c.2298T>A - p.H766Q 0.001 3.55 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05020 - - -
?/? 4 c.2298T>G - p.H766Q 0.001 3.55 0.0018 Thompson et al., 2013 DNA SEQ MSH6_05021 - - -
?/? 4 c.2299A>C - p.T767P 0.997 43.72 0.9740 Thompson et al., 2013 DNA SEQ MSH6_05022 - - -
?/? 4 c.2299A>G - p.T767A 0.995 37.99 0.9643 Thompson et al., 2013 DNA SEQ MSH6_05023 - - -
?/? 4 c.2299A>T - p.T767S 0.904 11.33 0.5403 Thompson et al., 2013 DNA SEQ MSH6_05024 - - -
?/? 4 c.2300C>A - p.T767N 0.996 20.18 0.8657 Thompson et al., 2013 DNA SEQ MSH6_05025 - - -
?/? 4 c.2300C>G - p.T767S 0.904 11.33 0.5403 Thompson et al., 2013 DNA SEQ MSH6_05026 - - -
?/? 4 c.2300C>T - p.T767I 0.998 33.48 0.9535 Thompson et al., 2013 DNA SEQ MSH6_05027 - - -
?/? 4 c.2302C>A - p.P768T 0.847 17.77 0.7191 Thompson et al., 2013 DNA SEQ MSH6_05028 - - -
?/? 4 c.2302C>G - p.P768A 0.272 20.00 0.2243 Thompson et al., 2013 DNA SEQ MSH6_05029 - - -
?/? 4 c.2302C>T - p.P768S 0.316 17.50 0.2048 Thompson et al., 2013 DNA SEQ MSH6_05030 - - -
?/? 4 c.2303C>A - p.P768H 0.847 19.31 0.7556 Thompson et al., 2013 DNA SEQ MSH6_05031 - - -
?/? 4 c.2303C>G - p.P768R 0.536 41.48 0.8234 Thompson et al., 2013 DNA SEQ MSH6_05032 - - -
?/? 4 c.2303C>T - p.P768L 0.185 26.92 0.2815 Thompson et al., 2013 DNA SEQ MSH6_05033 - - -
?/? 4 c.2305T>A - p.F769I 0.896 10.86 0.5078 Thompson et al., 2013 DNA SEQ MSH6_05034 - - -
?/? 4 c.2305T>C - p.F769L 0.896 12.82 0.6005 Thompson et al., 2013 DNA SEQ MSH6_05035 - - -
?/? 4 c.2305T>G - p.F769V 0.940 17.61 0.7885 Thompson et al., 2013 DNA SEQ MSH6_05036 - - -
?/? 4 c.2306T>A - p.F769Y 0.568 16.28 0.3900 Thompson et al., 2013 DNA SEQ MSH6_05037 - - -
?/? 4 c.2306T>C - p.F769S 0.690 19.43 0.6163 Thompson et al., 2013 DNA SEQ MSH6_05038 - - -
?/? 4 c.2306T>G - p.F769C 0.988 17.91 0.8262 Thompson et al., 2013 DNA SEQ MSH6_05039 - - -
?/? 4 c.2307T>A - p.F769L 0.896 12.82 0.6005 Thompson et al., 2013 DNA SEQ MSH6_05040 - - -
?/? 4 c.2307T>G - p.F769L 0.896 12.82 0.6005 Thompson et al., 2013 DNA SEQ MSH6_05041 - - -
?/? 4 c.2308G>A - p.G770S 1.000 7.50 0.4095 Thompson et al., 2013 DNA SEQ MSH6_05042 - - -
?/? 4 c.2308G>C - p.G770R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_05043 - - -
?/? 4 c.2308G>T - p.G770C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_05044 - - -
?/? 4 c.2309G>A - p.G770D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ MSH6_05045 - - -
?/? 4 c.2309G>C - p.G770A 0.996 22.05 0.8874 Thompson et al., 2013 DNA SEQ MSH6_05046 - - -
?/? 4 c.2309G>T - p.G770V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_05047 - - -
?/? 4 c.2311A>C - p.K771Q 0.767 11.57 0.4074 Thompson et al., 2013 DNA SEQ MSH6_05048 - - -
?/? 4 c.2311A>G - p.K771E 0.767 21.25 0.7321 Thompson et al., 2013 DNA SEQ MSH6_05049 - - -
?/? 4 c.2312A>C - p.K771T 0.690 24.92 0.7387 Thompson et al., 2013 DNA SEQ MSH6_05050 - - -
?/? 4 c.2312A>G - p.K771R 0.419 4.52 0.0182 Thompson et al., 2013 DNA SEQ MSH6_05051 - - -
?/? 4 c.2312A>T - p.K771M 0.988 14.75 0.7536 Thompson et al., 2013 DNA SEQ MSH6_05052 - - -
?/? 4 c.2313G>C - p.K771N 0.984 13.21 0.7007 Thompson et al., 2013 DNA SEQ MSH6_05053 - - -
?/? 4 c.2313G>T - p.K771N 0.984 13.21 0.7007 Thompson et al., 2013 DNA SEQ MSH6_05054 - - -
?/? 4 c.2314C>G - p.R772G 1.000 25.90 0.9204 Thompson et al., 2013 DNA SEQ MSH6_05055 - - -
?/? 4 c.2314C>T - p.R772W 1.000 22.31 0.8917 Thompson et al., 2013 DNA SEQ MSH6_05056 - - -
?/? 4 c.2315G>A - p.R772Q 0.999 14.43 0.7531 Thompson et al., 2013 DNA SEQ MSH6_05057 - - -
?/? 4 c.2315G>C - p.R772P 1.000 40.70 0.9699 Thompson et al., 2013 DNA SEQ MSH6_05058 - - -
?/? 4 c.2315G>T - p.R772L 1.000 19.03 0.8516 Thompson et al., 2013 DNA SEQ MSH6_05059 - - -
?/? 4 c.2317C>A - p.L773I 0.940 15.46 0.7350 Thompson et al., 2013 DNA SEQ MSH6_05060 - - -
?/? 4 c.2317C>G - p.L773V 0.699 25.80 0.7606 Thompson et al., 2013 DNA SEQ MSH6_05061 - - -
?/? 4 c.2317C>T - p.L773F 0.966 12.59 0.6603 Thompson et al., 2013 DNA SEQ MSH6_05062 - - -
?/? 4 c.2318T>A - p.L773H 0.988 20.32 0.8636 Thompson et al., 2013 DNA SEQ MSH6_05063 - - -
?/? 4 c.2318T>C - p.L773P 0.988 36.32 0.9594 Thompson et al., 2013 DNA SEQ MSH6_05064 - - -
?/? 4 c.2318T>G - p.L773R 0.767 33.02 0.8814 Thompson et al., 2013 DNA SEQ MSH6_05065 - - -
?/? 4 c.2320C>A - p.L774I 0.931 6.16 0.2484 Thompson et al., 2013 DNA SEQ MSH6_05066 - - -
?/? 4 c.2320C>G - p.L774V 0.973 10.77 0.5842 Thompson et al., 2013 DNA SEQ MSH6_05067 - - -
?/? 4 c.2321T>A - p.L774Q 0.995 11.55 0.6440 Thompson et al., 2013 DNA SEQ MSH6_05068 - - -
?/? 4 c.2321T>C - p.L774P 0.995 14.97 0.7652 Thompson et al., 2013 DNA SEQ MSH6_05069 - - -
?/? 4 c.2321T>G - p.L774R 0.995 31.23 0.9454 Thompson et al., 2013 DNA SEQ MSH6_05070 - - -
?/? 4 c.2323A>C - p.K775Q 0.636 11.57 0.2824 Thompson et al., 2013 DNA SEQ MSH6_05071 - - -
?/? 4 c.2323A>G - p.K775E 0.636 21.25 0.6100 Thompson et al., 2013 DNA SEQ MSH6_05072 - - -
?/? 4 c.2324A>C - p.K775T 0.411 24.92 0.4627 Thompson et al., 2013 DNA SEQ MSH6_05073 - - -
?/? 4 c.2324A>G - p.K775R 0.174 4.52 0.0065 Thompson et al., 2013 DNA SEQ MSH6_05074 - - -
?/? 4 c.2324A>T - p.K775M 0.893 14.75 0.6711 Thompson et al., 2013 DNA SEQ MSH6_05075 - - -
?/? 4 c.2325G>C - p.K775N 0.959 13.21 0.6779 Thompson et al., 2013 DNA SEQ MSH6_05076 - - -
?/? 4 c.2325G>T - p.K775N 0.959 13.21 0.6779 Thompson et al., 2013 DNA SEQ MSH6_05077 - - -
?/? 4 c.2326C>A - p.Q776K 0.007 9.22 0.0159 Thompson et al., 2013 DNA SEQ MSH6_05078 - - -
?/? 4 c.2326C>G - p.Q776E 0.013 10.01 0.0195 Thompson et al., 2013 DNA SEQ MSH6_05079 - - -
?/? 4 c.2327A>C - p.Q776P 0.320 20.25 0.2673 Thompson et al., 2013 DNA SEQ MSH6_05080 - - -
?/? 4 c.2327A>G - p.Q776R 0.011 11.29 0.0253 Thompson et al., 2013 DNA SEQ MSH6_05081 - - -
?/? 4 c.2327A>T - p.Q776L 0.022 6.26 0.0071 Thompson et al., 2013 DNA SEQ MSH6_05082 - - -
?/? 4 c.2328A>C - p.Q776H 0.007 7.43 0.0098 Thompson et al., 2013 DNA SEQ MSH6_05083 - - -
?/? 4 c.2328A>T - p.Q776H 0.007 7.43 0.0098 Thompson et al., 2013 DNA SEQ MSH6_05084 - - -
?/? 4 c.2329T>A - p.W777R 0.999 37.82 0.9645 Thompson et al., 2013 DNA SEQ MSH6_05085 - - -
?/? 4 c.2329T>C - p.W777R 0.999 37.82 0.9645 Thompson et al., 2013 DNA SEQ MSH6_05086 - - -
?/? 4 c.2329T>G - p.W777G 0.999 23.29 0.9004 Thompson et al., 2013 DNA SEQ MSH6_05087 - - -
?/? 4 c.2330G>C - p.W777S 0.997 16.73 0.8088 Thompson et al., 2013 DNA SEQ MSH6_05088 - - -
?/? 4 c.2330G>T - p.W777L 0.984 33.15 0.9498 Thompson et al., 2013 DNA SEQ MSH6_05089 - - -
?/? 4 c.2331G>C - p.W777C 1.000 29.05 0.9375 Thompson et al., 2013 DNA SEQ MSH6_05090 - - -
?/? 4 c.2331G>T - p.W777C 1.000 29.05 0.9375 Thompson et al., 2013 DNA SEQ MSH6_05091 - - -
?/? 4 c.2332C>A - p.L778I 0.135 5.92 0.0101 Thompson et al., 2013 DNA SEQ MSH6_05092 - - -
?/? 4 c.2332C>G - p.L778V 0.071 14.75 0.0580 Thompson et al., 2013 DNA SEQ MSH6_05093 - - -
?/? 4 c.2332C>T - p.L778F 0.960 9.62 0.5071 Thompson et al., 2013 DNA SEQ MSH6_05094 - - -
?/? 4 c.2333T>A - p.L778H 0.981 21.41 0.8737 Thompson et al., 2013 DNA SEQ MSH6_05095 - - -
?/? 4 c.2333T>C - p.L778P 0.981 35.74 0.9568 Thompson et al., 2013 DNA SEQ MSH6_05096 - - -
?/? 4 c.2333T>G - p.L778R 0.981 34.85 0.9543 Thompson et al., 2013 DNA SEQ MSH6_05097 - - -
?/? 4 c.2335T>A - p.C779S 0.294 7.13 0.0296 Thompson et al., 2013 DNA SEQ MSH6_05098 - - -
?/? 4 c.2335T>C - p.C779R 0.656 35.68 0.8467 Thompson et al., 2013 DNA SEQ MSH6_05099 - - -
?/? 4 c.2335T>G - p.C779G 0.294 7.81 0.0362 Thompson et al., 2013 DNA SEQ MSH6_05100 - - -
5001 - 5100
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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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