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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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6 c.3556G>C - p.G1186R 0.942 36.52 0.9517 Thompson et al., 2013 DNA SEQ MSH6_07801
6 c.3556G>T - p.G1186C 0.999 19.13 0.8526 Thompson et al., 2013 DNA SEQ MSH6_07802
7 c.3557G>A - p.G1186D 0.996 35.86 0.9596 Thompson et al., 2013 DNA SEQ MSH6_07803
7 c.3557G>C - p.G1186A 0.939 22.05 0.8608 Thompson et al., 2013 DNA SEQ MSH6_07804
7 c.3557G>T - p.G1186V 0.996 29.36 0.9379 Thompson et al., 2013 DNA SEQ MSH6_07805
7 c.3559G>A - p.E1187K 0.115 19.98 0.1287 Thompson et al., 2013 DNA SEQ MSH6_07806
7 c.3559G>C - p.E1187Q 0.162 13.20 0.0658 Thompson et al., 2013 DNA SEQ MSH6_07807
7 c.3560A>C - p.E1187A 0.381 24.45 0.4205 Thompson et al., 2013 DNA SEQ MSH6_07808
7 c.3560A>G - p.E1187G 0.888 28.23 0.8971 Thompson et al., 2013 DNA SEQ MSH6_07809
7 c.3560A>T - p.E1187V 0.738 31.34 0.8537 Thompson et al., 2013 DNA SEQ MSH6_07810
7 c.3561A>C - p.E1187D 0.888 13.31 0.6127 Thompson et al., 2013 DNA SEQ MSH6_07811
7 c.3561A>T - p.E1187D 0.888 13.31 0.6127 Thompson et al., 2013 DNA SEQ MSH6_07812
7 c.3562A>C - p.S1188R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ MSH6_07813
7 c.3562A>G - p.S1188G 0.999 9.08 0.5159 Thompson et al., 2013 DNA SEQ MSH6_07814
7 c.3562A>T - p.S1188C 1.000 20.41 0.8706 Thompson et al., 2013 DNA SEQ MSH6_07815
7 c.3563G>A - p.S1188N 0.996 14.09 0.7404 Thompson et al., 2013 DNA SEQ MSH6_07816
7 c.3563G>C - p.S1188T 0.999 13.44 0.7219 Thompson et al., 2013 DNA SEQ MSH6_07817
7 c.3563G>T - p.S1188I 1.000 29.33 0.9387 Thompson et al., 2013 DNA SEQ MSH6_07818
7 c.3564T>A - p.S1188R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ MSH6_07819
7 c.3564T>G - p.S1188R 1.000 36.37 0.9615 Thompson et al., 2013 DNA SEQ MSH6_07820
7 c.3565A>C - p.T1189P 1.000 43.72 0.9743 Thompson et al., 2013 DNA SEQ MSH6_07821
7 c.3565A>G - p.T1189A 1.000 37.99 0.9650 Thompson et al., 2013 DNA SEQ MSH6_07822
7 c.3565A>T - p.T1189S 1.000 11.33 0.6388 Thompson et al., 2013 DNA SEQ MSH6_07823
7 c.3566C>A - p.T1189K 1.000 34.43 0.9566 Thompson et al., 2013 DNA SEQ MSH6_07824
7 c.3566C>G - p.T1189R 1.000 37.76 0.9645 Thompson et al., 2013 DNA SEQ MSH6_07825
7 c.3566C>T - p.T1189I 1.000 33.48 0.9539 Thompson et al., 2013 DNA SEQ MSH6_07826
7 c.3568T>A - p.F1190I 0.997 10.86 0.6133 Thompson et al., 2013 DNA SEQ MSH6_07827
7 c.3568T>C - p.F1190L 0.977 12.82 0.6798 Thompson et al., 2013 DNA SEQ MSH6_07828
7 c.3568T>G - p.F1190V 0.997 17.61 0.8262 Thompson et al., 2013 DNA SEQ MSH6_07829
7 c.3569T>A - p.F1190Y 0.999 16.28 0.8004 Thompson et al., 2013 DNA SEQ MSH6_07830
7 c.3569T>C - p.F1190S 0.999 19.43 0.8570 Thompson et al., 2013 DNA SEQ MSH6_07831
7 c.3569T>G - p.F1190C 1.000 17.91 0.8334 Thompson et al., 2013 DNA SEQ MSH6_07832
7 c.3570T>A - p.F1190L 0.977 12.82 0.6798 Thompson et al., 2013 DNA SEQ MSH6_07833
7 c.3570T>G - p.F1190L 0.977 12.82 0.6798 Thompson et al., 2013 DNA SEQ MSH6_07834
7 c.3571T>A - p.F1191I 0.738 8.62 0.2375 Thompson et al., 2013 DNA SEQ MSH6_07835
7 c.3571T>C - p.F1191L 0.072 11.12 0.0315 Thompson et al., 2013 DNA SEQ MSH6_07836
7 c.3571T>G - p.F1191V 0.656 15.65 0.4596 Thompson et al., 2013 DNA SEQ MSH6_07837
7 c.3572T>A - p.F1191Y 0.064 5.80 0.0071 Thompson et al., 2013 DNA SEQ MSH6_07838
7 c.3572T>C - p.F1191S 0.896 16.38 0.7239 Thompson et al., 2013 DNA SEQ MSH6_07839
7 c.3572T>G - p.F1191C 0.939 15.86 0.7454 Thompson et al., 2013 DNA SEQ MSH6_07840
7 c.3573T>A - p.F1191L 0.072 11.12 0.0315 Thompson et al., 2013 DNA SEQ MSH6_07841
7 c.3573T>G - p.F1191L 0.072 11.12 0.0315 Thompson et al., 2013 DNA SEQ MSH6_07842
7 c.3574G>A - p.V1192I 0.907 11.96 0.5737 Thompson et al., 2013 DNA SEQ MSH6_07843
7 c.3574G>C - p.V1192L 0.872 20.81 0.8030 Thompson et al., 2013 DNA SEQ MSH6_07844
7 c.3574G>T - p.V1192F 0.996 21.09 0.8769 Thompson et al., 2013 DNA SEQ MSH6_07845
7 c.3575T>A - p.V1192D 0.998 33.13 0.9525 Thompson et al., 2013 DNA SEQ MSH6_07846
7 c.3575T>C - p.V1192A 0.996 27.75 0.9300 Thompson et al., 2013 DNA SEQ MSH6_07847
7 c.3575T>G - p.V1192G 0.997 23.22 0.8990 Thompson et al., 2013 DNA SEQ MSH6_07848
7 c.3577G>A - p.E1193K 1.000 19.98 0.8651 Thompson et al., 2013 DNA SEQ MSH6_07849
7 c.3577G>C - p.E1193Q 1.000 13.20 0.7144 Thompson et al., 2013 DNA SEQ MSH6_07850
7 c.3578A>C - p.E1193A 1.000 24.45 0.9102 Thompson et al., 2013 DNA SEQ MSH6_07851
7 c.3578A>G - p.E1193G 1.000 28.23 0.9336 Thompson et al., 2013 DNA SEQ MSH6_07852
7 c.3578A>T - p.E1193V 1.000 31.34 0.9468 Thompson et al., 2013 DNA SEQ MSH6_07853
7 c.3579A>C - p.E1193D 1.000 13.31 0.7183 Thompson et al., 2013 DNA SEQ MSH6_07854
7 c.3579A>T - p.E1193D 1.000 13.31 0.7183 Thompson et al., 2013 DNA SEQ MSH6_07855
7 c.3580T>A - p.L1194I 0.909 15.37 0.7058 Thompson et al., 2013 DNA SEQ MSH6_07856
7 c.3580T>G - p.L1194V 0.606 25.39 0.6734 Thompson et al., 2013 DNA SEQ MSH6_07857
7 c.3581T>C - p.L1194S 0.925 19.99 0.8234 Thompson et al., 2013 DNA SEQ MSH6_07858
7 c.3582A>C - p.L1194F 0.971 11.76 0.6298 Thompson et al., 2013 DNA SEQ MSH6_07859
7 c.3582A>T - p.L1194F 0.971 11.76 0.6298 Thompson et al., 2013 DNA SEQ MSH6_07860
7 c.3583A>C - p.S1195R 0.151 26.95 0.2536 Thompson et al., 2013 DNA SEQ MSH6_07861
7 c.3583A>G - p.S1195G 0.107 7.28 0.0142 Thompson et al., 2013 DNA SEQ MSH6_07862
7 c.3583A>T - p.S1195C 0.253 8.11 0.0332 Thompson et al., 2013 DNA SEQ MSH6_07863
7 c.3584G>A - p.S1195N 0.019 6.37 0.0073 Thompson et al., 2013 DNA SEQ MSH6_07864
7 c.3584G>C - p.S1195T 0.107 5.21 0.0067 Thompson et al., 2013 DNA SEQ MSH6_07865
7 c.3584G>T - p.S1195I 0.239 14.17 0.1030 Thompson et al., 2013 DNA SEQ MSH6_07866
7 c.3585T>A - p.S1195R 0.151 26.95 0.2536 Thompson et al., 2013 DNA SEQ MSH6_07867
7 c.3585T>G - p.S1195R 0.151 26.95 0.2536 Thompson et al., 2013 DNA SEQ MSH6_07868
7 c.3586G>A - p.E1196K 0.999 19.98 0.8646 Thompson et al., 2013 DNA SEQ MSH6_07869
7 c.3586G>C - p.E1196Q 0.999 13.20 0.7136 Thompson et al., 2013 DNA SEQ MSH6_07870
7 c.3587A>C - p.E1196A 0.999 24.45 0.9099 Thompson et al., 2013 DNA SEQ MSH6_07871
7 c.3587A>G - p.E1196G 0.999 28.23 0.9333 Thompson et al., 2013 DNA SEQ MSH6_07872
7 c.3587A>T - p.E1196V 1.000 31.34 0.9468 Thompson et al., 2013 DNA SEQ MSH6_07873
7 c.3588A>C - p.E1196D 0.989 13.31 0.7087 Thompson et al., 2013 DNA SEQ MSH6_07874
7 c.3588A>T - p.E1196D 0.989 13.31 0.7087 Thompson et al., 2013 DNA SEQ MSH6_07875
7 c.3589A>C - p.T1197P 0.996 43.72 0.9739 Thompson et al., 2013 DNA SEQ MSH6_07876
7 c.3589A>G - p.T1197A 0.869 37.99 0.9404 Thompson et al., 2013 DNA SEQ MSH6_07877
7 c.3589A>T - p.T1197S 0.989 11.33 0.6280 Thompson et al., 2013 DNA SEQ MSH6_07878
7 c.3590C>A - p.T1197N 0.996 20.18 0.8657 Thompson et al., 2013 DNA SEQ MSH6_07879
7 c.3590C>G - p.T1197S 0.989 11.33 0.6280 Thompson et al., 2013 DNA SEQ MSH6_07880
7 c.3590C>T - p.T1197I 0.954 33.48 0.9445 Thompson et al., 2013 DNA SEQ MSH6_07881
7 c.3592G>A - p.A1198T 0.081 4.62 0.0046 Thompson et al., 2013 DNA SEQ MSH6_07882
7 c.3592G>C - p.A1198P 0.747 7.17 0.1757 Thompson et al., 2013 DNA SEQ MSH6_07883
7 c.3592G>T - p.A1198S 0.016 2.65 0.0010 Thompson et al., 2013 DNA SEQ MSH6_07884
7 c.3593C>A - p.A1198D 0.234 32.85 0.4313 Thompson et al., 2013 DNA SEQ MSH6_07885
7 c.3593C>G - p.A1198G 0.234 2.62 0.0024 Thompson et al., 2013 DNA SEQ MSH6_07886
7 c.3593C>T - p.A1198V 0.683 4.41 0.0511 Thompson et al., 2013 DNA SEQ MSH6_07887
7 c.3595A>C - p.S1199R 0.263 33.83 0.4785 Thompson et al., 2013 DNA SEQ MSH6_07888
7 c.3595A>G - p.S1199G 0.510 7.42 0.0774 Thompson et al., 2013 DNA SEQ MSH6_07889
7 c.3595A>T - p.S1199C 0.900 19.83 0.8045 Thompson et al., 2013 DNA SEQ MSH6_07890
7 c.3596G>A - p.S1199N 0.121 11.31 0.0400 Thompson et al., 2013 DNA SEQ MSH6_07891
7 c.3596G>C - p.S1199T 0.021 3.65 0.0021 Thompson et al., 2013 DNA SEQ MSH6_07892
7 c.3596G>T - p.S1199I 0.263 32.42 0.4544 Thompson et al., 2013 DNA SEQ MSH6_07893
7 c.3597C>A - p.S1199R 0.263 33.83 0.4785 Thompson et al., 2013 DNA SEQ MSH6_07894
7 c.3597C>G - p.S1199R 0.263 33.83 0.4785 Thompson et al., 2013 DNA SEQ MSH6_07895
7 c.3598A>C - p.I1200L 0.781 10.44 0.3663 Thompson et al., 2013 DNA SEQ MSH6_07896
7 c.3598A>G - p.I1200V 0.370 10.65 0.0950 Thompson et al., 2013 DNA SEQ MSH6_07897
7 c.3598A>T - p.I1200L 0.781 10.44 0.3663 Thompson et al., 2013 DNA SEQ MSH6_07898
7 c.3599T>A - p.I1200K 0.990 28.51 0.9323 Thompson et al., 2013 DNA SEQ MSH6_07899
7 c.3599T>C - p.I1200T 0.972 19.60 0.8449 Thompson et al., 2013 DNA SEQ MSH6_07900
7801 - 7900
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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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