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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.2916T>G - p.I972M 0.023 7.85 0.0118 Thompson et al., 2013 DNA SEQ MSH6_06401 - - -
?/? 4 c.2917G>A - p.G973S 0.201 2.62 0.0021 Thompson et al., 2013 DNA SEQ MSH6_06402 - - -
?/? 4 c.2917G>C - p.G973R 0.811 36.36 0.9177 Thompson et al., 2013 DNA SEQ MSH6_06403 - - -
?/? 4 c.2917G>T - p.G973C 0.941 4.56 0.1484 Thompson et al., 2013 DNA SEQ MSH6_06404 - - -
?/? 4 c.2918G>A - p.G973D 0.130 36.43 0.3812 Thompson et al., 2013 DNA SEQ MSH6_06405 - - -
?/? 4 c.2918G>C - p.G973A 0.130 2.97 0.0021 Thompson et al., 2013 DNA SEQ MSH6_06406 - - -
?/? 4 c.2918G>T - p.G973V 0.811 6.47 0.1814 Thompson et al., 2013 DNA SEQ MSH6_06407 - - -
?/? 4 c.2920A>G - p.R974G 0.110 10.58 0.0330 Thompson et al., 2013 DNA SEQ MSH6_06408 - - -
?/? 4 c.2920A>T - p.R974W 0.846 7.79 0.2817 Thompson et al., 2013 DNA SEQ MSH6_06409 - - -
?/? 4 c.2921G>A - p.R974K 0.002 0.92 0.0001 Thompson et al., 2013 DNA SEQ MSH6_06410 - - -
?/? 4 c.2921G>C - p.R974T 0.143 8.31 0.0222 Thompson et al., 2013 DNA SEQ MSH6_06411 - - -
?/? 4 c.2921G>T - p.R974M 0.523 13.94 0.2707 Thompson et al., 2013 DNA SEQ MSH6_06412 - - -
?/? 4 c.2922G>C - p.R974S 0.110 7.94 0.0175 Thompson et al., 2013 DNA SEQ MSH6_06413 - - -
?/? 4 c.2922G>T - p.R974S 0.110 7.94 0.0175 Thompson et al., 2013 DNA SEQ MSH6_06414 - - -
?/? 4 c.2923A>C - p.N975H 0.819 1.89 0.0138 Thompson et al., 2013 DNA SEQ MSH6_06415 - - -
?/? 4 c.2923A>G - p.N975D 0.016 4.72 0.0037 Thompson et al., 2013 DNA SEQ MSH6_06416 - - -
?/? 4 c.2923A>T - p.N975Y 0.051 3.50 0.0022 Thompson et al., 2013 DNA SEQ MSH6_06417 - - -
?/? 4 c.2924A>C - p.N975T 0.044 2.78 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06418 - - -
?/? 4 c.2924A>G - p.N975S 0.086 2.62 0.0013 Thompson et al., 2013 DNA SEQ MSH6_06419 - - -
?/? 4 c.2924A>T - p.N975I 0.191 3.48 0.0039 Thompson et al., 2013 DNA SEQ MSH6_06420 - - -
?/? 4 c.2925C>A - p.N975K 0.029 3.74 0.0023 Thompson et al., 2013 DNA SEQ MSH6_06421 - - -
?/? 4 c.2925C>G - p.N975K 0.029 3.74 0.0023 Thompson et al., 2013 DNA SEQ MSH6_06422 - - -
?/? 4 c.2926C>A - p.R976S 0.673 4.36 0.0479 Thompson et al., 2013 DNA SEQ MSH6_06423 - - -
?/? 4 c.2926C>G - p.R976G 0.957 5.77 0.2415 Thompson et al., 2013 DNA SEQ MSH6_06424 - - -
?/? 4 c.2926C>T - p.R976C 0.981 7.30 0.3756 Thompson et al., 2013 DNA SEQ MSH6_06425 - - -
?/? 4 c.2927G>A - p.R976H 0.791 3.62 0.0517 Thompson et al., 2013 DNA SEQ MSH6_06426 - - -
?/? 4 c.2927G>C - p.R976P 0.673 13.60 0.3994 Thompson et al., 2013 DNA SEQ MSH6_06427 - - -
?/? 4 c.2927G>T - p.R976L 0.673 3.29 0.0258 Thompson et al., 2013 DNA SEQ MSH6_06428 - - -
?/? 4 c.2929T>A - p.Y977N 0.992 15.30 0.7717 Thompson et al., 2013 DNA SEQ MSH6_06429 - - -
?/? 4 c.2929T>C - p.Y977H 0.781 14.69 0.5565 Thompson et al., 2013 DNA SEQ MSH6_06430 - - -
?/? 4 c.2929T>G - p.Y977D 0.992 26.65 0.9226 Thompson et al., 2013 DNA SEQ MSH6_06431 - - -
?/? 4 c.2930A>C - p.Y977S 0.990 8.86 0.4924 Thompson et al., 2013 DNA SEQ MSH6_06432 - - -
?/? 4 c.2930A>G - p.Y977C 0.959 4.31 0.1421 Thompson et al., 2013 DNA SEQ MSH6_06433 - - -
?/? 4 c.2930A>T - p.Y977F 0.406 4.06 0.0135 Thompson et al., 2013 DNA SEQ MSH6_06434 - - -
?/? 4 c.2932C>A - p.Q978K 0.833 23.40 0.8184 Thompson et al., 2013 DNA SEQ MSH6_06435 - - -
?/? 4 c.2932C>G - p.Q978E 0.272 23.52 0.2946 Thompson et al., 2013 DNA SEQ MSH6_06436 - - -
?/? 4 c.2933A>C - p.Q978P 0.450 11.24 0.1430 Thompson et al., 2013 DNA SEQ MSH6_06437 - - -
?/? 4 c.2933A>G - p.Q978R 0.939 23.45 0.8767 Thompson et al., 2013 DNA SEQ MSH6_06438 - - -
?/? 4 c.2933A>T - p.Q978L 0.122 3.86 0.0036 Thompson et al., 2013 DNA SEQ MSH6_06439 - - -
?/? 4 c.2934G>C - p.Q978H 0.966 11.14 0.5956 Thompson et al., 2013 DNA SEQ MSH6_06440 - - -
?/? 4 c.2934G>T - p.Q978H 0.966 11.14 0.5956 Thompson et al., 2013 DNA SEQ MSH6_06441 - - -
?/? 4 c.2935C>A - p.L979M 0.114 2.57 0.0014 Thompson et al., 2013 DNA SEQ MSH6_06442 - - -
?/? 4 c.2935C>G - p.L979V 0.045 9.45 0.0196 Thompson et al., 2013 DNA SEQ MSH6_06443 - - -
?/? 4 c.2936T>A - p.L979Q 0.941 8.16 0.3951 Thompson et al., 2013 DNA SEQ MSH6_06444 - - -
?/? 4 c.2936T>C - p.L979P 0.904 14.20 0.6624 Thompson et al., 2013 DNA SEQ MSH6_06445 - - -
?/? 4 c.2936T>G - p.L979R 0.941 30.90 0.9306 Thompson et al., 2013 DNA SEQ MSH6_06446 - - -
?/? 4 c.2938G>A - p.E980K 0.987 5.93 0.2779 Thompson et al., 2013 DNA SEQ MSH6_06447 - - -
?/? 4 c.2938G>C - p.E980Q 0.869 9.37 0.3968 Thompson et al., 2013 DNA SEQ MSH6_06448 - - -
?/? 4 c.2939A>C - p.E980A 0.954 18.49 0.8155 Thompson et al., 2013 DNA SEQ MSH6_06449 - - -
?/? 4 c.2939A>G - p.E980G 0.995 14.98 0.7655 Thompson et al., 2013 DNA SEQ MSH6_06450 - - -
?/? 4 c.2939A>T - p.E980V 0.996 23.60 0.9019 Thompson et al., 2013 DNA SEQ MSH6_06451 - - -
?/? 4 c.2940A>C - p.E980D 0.887 8.92 0.3884 Thompson et al., 2013 DNA SEQ MSH6_06452 - - -
?/? 4 c.2940A>T - p.E980D 0.887 8.92 0.3884 Thompson et al., 2013 DNA SEQ MSH6_06453 - - -
?/? 4 c.2941A>C - p.I981L 0.049 4.82 0.0044 Thompson et al., 2013 DNA SEQ MSH6_06454 - - -
?/? 4 c.2941A>G - p.I981V 0.010 4.57 0.0033 Thompson et al., 2013 DNA SEQ MSH6_06455 - - -
?/? 4 c.2941A>T - p.I981F 0.336 5.66 0.0212 Thompson et al., 2013 DNA SEQ MSH6_06456 - - -
?/? 4 c.2942T>A - p.I981N 0.929 13.15 0.6470 Thompson et al., 2013 DNA SEQ MSH6_06457 - - -
?/? 4 c.2942T>C - p.I981T 0.140 11.12 0.0417 Thompson et al., 2013 DNA SEQ MSH6_06458 - - -
?/? 4 c.2942T>G - p.I981S 0.774 9.87 0.3306 Thompson et al., 2013 DNA SEQ MSH6_06459 - - -
?/? 4 c.2943T>G - p.I981M 0.216 9.40 0.0394 Thompson et al., 2013 DNA SEQ MSH6_06460 - - -
?/? 4 c.2944C>A - p.P982T 0.903 17.77 0.7647 Thompson et al., 2013 DNA SEQ MSH6_06461 - - -
?/? 4 c.2944C>G - p.P982A 0.903 20.00 0.8096 Thompson et al., 2013 DNA SEQ MSH6_06462 - - -
?/? 4 c.2944C>T - p.P982S 0.678 17.50 0.5462 Thompson et al., 2013 DNA SEQ MSH6_06463 - - -
?/? 4 c.2945C>A - p.P982H 0.992 19.31 0.8515 Thompson et al., 2013 DNA SEQ MSH6_06464 - - -
?/? 4 c.2945C>G - p.P982R 0.840 41.48 0.9445 Thompson et al., 2013 DNA SEQ MSH6_06465 - - -
?/? 4 c.2945C>T - p.P982L 0.990 26.92 0.9236 Thompson et al., 2013 DNA SEQ MSH6_06466 - - -
?/? 4 c.2947G>A - p.E983K 0.216 5.95 0.0143 Thompson et al., 2013 DNA SEQ MSH6_06467 - - -
?/? 4 c.2947G>C - p.E983Q 0.850 3.67 0.0674 Thompson et al., 2013 DNA SEQ MSH6_06468 - - -
?/? 4 c.2948A>C - p.E983A 0.216 5.44 0.0117 Thompson et al., 2013 DNA SEQ MSH6_06469 - - -
?/? 4 c.2948A>G - p.E983G 0.756 6.61 0.1555 Thompson et al., 2013 DNA SEQ MSH6_06470 - - -
?/? 4 c.2948A>T - p.E983V 0.044 14.46 0.0498 Thompson et al., 2013 DNA SEQ MSH6_06471 - - -
?/? 4 c.2949G>C - p.E983D 0.074 4.18 0.0035 Thompson et al., 2013 DNA SEQ MSH6_06472 - - -
?/? 4 c.2949G>T - p.E983D 0.074 4.18 0.0035 Thompson et al., 2013 DNA SEQ MSH6_06473 - - -
?/? 4 c.2950A>C - p.N984H 0.065 4.86 0.0048 Thompson et al., 2013 DNA SEQ MSH6_06474 - - -
?/? 4 c.2950A>G - p.N984D 0.007 4.73 0.0035 Thompson et al., 2013 DNA SEQ MSH6_06475 - - -
?/? 4 c.2950A>T - p.N984Y 0.329 8.08 0.0450 Thompson et al., 2013 DNA SEQ MSH6_06476 - - -
?/? 4 c.2951A>C - p.N984T 0.004 2.85 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06477 - - -
?/? 4 c.2951A>G - p.N984S 0.001 1.41 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06478 - - -
?/? 4 c.2951A>T - p.N984I 0.093 7.75 0.0154 Thompson et al., 2013 DNA SEQ MSH6_06479 - - -
?/? 4 c.2952T>A - p.N984K 0.012 6.95 0.0086 Thompson et al., 2013 DNA SEQ MSH6_06480 - - -
?/? 4 c.2952T>G - p.N984K 0.012 6.95 0.0086 Thompson et al., 2013 DNA SEQ MSH6_06481 - - -
?/? 4 c.2953T>A - p.F985I 0.004 2.07 0.0005 Thompson et al., 2013 DNA SEQ MSH6_06482 - - -
?/? 4 c.2953T>C - p.F985L 0.002 2.33 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06483 - - -
?/? 4 c.2953T>G - p.F985V 0.000 2.87 0.0011 Thompson et al., 2013 DNA SEQ MSH6_06484 - - -
?/? 4 c.2954T>A - p.F985Y 0.004 6.94 0.0083 Thompson et al., 2013 DNA SEQ MSH6_06485 - - -
?/? 4 c.2954T>C - p.F985S 0.007 5.62 0.0052 Thompson et al., 2013 DNA SEQ MSH6_06486 - - -
?/? 4 c.2954T>G - p.F985C 0.013 3.42 0.0017 Thompson et al., 2013 DNA SEQ MSH6_06487 - - -
?/? 4 c.2955C>A - p.F985L 0.002 2.33 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06488 - - -
?/? 4 c.2955C>G - p.F985L 0.002 2.33 0.0007 Thompson et al., 2013 DNA SEQ MSH6_06489 - - -
?/? 4 c.2956A>C - p.T986P 0.014 8.57 0.0139 Thompson et al., 2013 DNA SEQ MSH6_06490 - - -
?/? 4 c.2956A>G - p.T986A 0.002 3.28 0.0015 Thompson et al., 2013 DNA SEQ MSH6_06491 - - -
?/? 4 c.2956A>T - p.T986S 0.004 2.69 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06492 - - -
?/? 4 c.2957C>A - p.T986N 0.058 11.03 0.0292 Thompson et al., 2013 DNA SEQ MSH6_06493 - - -
?/? 4 c.2957C>G - p.T986S 0.004 2.69 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06494 - - -
?/? 4 c.2957C>T - p.T986I 0.002 2.19 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06495 - - -
?/? 4 c.2959A>C - p.T987P 0.004 7.17 0.0089 Thompson et al., 2013 DNA SEQ MSH6_06496 - - -
?/? 4 c.2959A>G - p.T987A 0.003 4.27 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06497 - - -
?/? 4 c.2959A>T - p.T987S 0.001 1.21 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06498 - - -
?/? 4 c.2960C>A - p.T987N 0.029 2.58 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06499 - - -
?/? 4 c.2960C>G - p.T987S 0.001 1.21 0.0002 Thompson et al., 2013 DNA SEQ MSH6_06500 - - -
6401 - 6500
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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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