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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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Template Hide Template column Descending
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4 c.2960C>T - p.T987I 0.020 5.37 0.0050 Thompson et al., 2013 DNA SEQ MSH6_06501
4 c.2962C>A - p.R988S 0.014 14.84 0.0466 Thompson et al., 2013 DNA SEQ MSH6_06502
4 c.2962C>G - p.R988G 0.014 18.54 0.0750 Thompson et al., 2013 DNA SEQ MSH6_06503
4 c.2962C>T - p.R988C 0.266 24.75 0.3137 Thompson et al., 2013 DNA SEQ MSH6_06504
4 c.2963G>A - p.R988H 0.027 7.92 0.0123 Thompson et al., 2013 DNA SEQ MSH6_06505
4 c.2963G>C - p.R988P 0.610 28.62 0.7335 Thompson et al., 2013 DNA SEQ MSH6_06506
4 c.2963G>T - p.R988L 0.071 20.73 0.1175 Thompson et al., 2013 DNA SEQ MSH6_06507
4 c.2965A>C - p.N989H 0.042 2.31 0.0008 Thompson et al., 2013 DNA SEQ MSH6_06508
4 c.2965A>G - p.N989D 0.021 4.35 0.0031 Thompson et al., 2013 DNA SEQ MSH6_06509
4 c.2965A>T - p.N989Y 0.036 4.07 0.0028 Thompson et al., 2013 DNA SEQ MSH6_06510
4 c.2966A>C - p.N989T 0.115 3.54 0.0029 Thompson et al., 2013 DNA SEQ MSH6_06511
4 c.2966A>G - p.N989S 0.007 3.38 0.0016 Thompson et al., 2013 DNA SEQ MSH6_06512
4 c.2966A>T - p.N989I 0.335 12.79 0.1205 Thompson et al., 2013 DNA SEQ MSH6_06513
4 c.2967T>A - p.N989K 0.004 3.22 0.0015 Thompson et al., 2013 DNA SEQ MSH6_06514
4 c.2967T>G - p.N989K 0.004 3.22 0.0015 Thompson et al., 2013 DNA SEQ MSH6_06515
4 c.2968T>A - p.L990M 0.219 4.74 0.0087 Thompson et al., 2013 DNA SEQ MSH6_06516
4 c.2968T>G - p.L990V 0.002 4.41 0.0029 Thompson et al., 2013 DNA SEQ MSH6_06517
4 c.2969T>C - p.L990S 0.423 4.02 0.0142 Thompson et al., 2013 DNA SEQ MSH6_06518
4 c.2969T>G - p.L990W 0.856 5.06 0.1332 Thompson et al., 2013 DNA SEQ MSH6_06519
4 c.2970G>C - p.L990F 0.219 3.47 0.0043 Thompson et al., 2013 DNA SEQ MSH6_06520
4 c.2970G>T - p.L990F 0.219 3.47 0.0043 Thompson et al., 2013 DNA SEQ MSH6_06521
4 c.2971C>A - p.P991T 0.891 17.77 0.7554 Thompson et al., 2013 DNA SEQ MSH6_06522
4 c.2971C>G - p.P991A 0.954 20.00 0.8408 Thompson et al., 2013 DNA SEQ MSH6_06523
4 c.2971C>T - p.P991S 0.891 17.50 0.7489 Thompson et al., 2013 DNA SEQ MSH6_06524
4 c.2972C>A - p.P991Q 0.994 17.67 0.8254 Thompson et al., 2013 DNA SEQ MSH6_06525
4 c.2972C>G - p.P991R 0.994 41.48 0.9704 Thompson et al., 2013 DNA SEQ MSH6_06526
4 c.2972C>T - p.P991L 0.933 26.92 0.9046 Thompson et al., 2013 DNA SEQ MSH6_06527
4 c.2974G>A - p.E992K 0.010 5.87 0.0058 Thompson et al., 2013 DNA SEQ MSH6_06528
4 c.2974G>C - p.E992Q 0.138 6.08 0.0108 Thompson et al., 2013 DNA SEQ MSH6_06529
4 c.2975A>C - p.E992A 0.024 20.04 0.0917 Thompson et al., 2013 DNA SEQ MSH6_06530
4 c.2975A>G - p.E992G 0.029 11.35 0.0276 Thompson et al., 2013 DNA SEQ MSH6_06531
4 c.2975A>T - p.E992V 0.086 27.97 0.2189 Thompson et al., 2013 DNA SEQ MSH6_06532
4 c.2976A>C - p.E992D 0.029 2.92 0.0013 Thompson et al., 2013 DNA SEQ MSH6_06533
4 c.2976A>T - p.E992D 0.029 2.92 0.0013 Thompson et al., 2013 DNA SEQ MSH6_06534
4 c.2977G>A - p.E993K 0.198 18.21 0.1457 Thompson et al., 2013 DNA SEQ MSH6_06535
4 c.2977G>C - p.E993Q 0.838 13.76 0.5796 Thompson et al., 2013 DNA SEQ MSH6_06536
4 c.2978A>C - p.E993A 0.642 23.13 0.6604 Thompson et al., 2013 DNA SEQ MSH6_06537
4 c.2978A>G - p.E993G 0.072 19.32 0.1023 Thompson et al., 2013 DNA SEQ MSH6_06538
4 c.2978A>T - p.E993V 0.838 24.29 0.8336 Thompson et al., 2013 DNA SEQ MSH6_06539
4 c.2979A>C - p.E993D 0.025 4.62 0.0036 Thompson et al., 2013 DNA SEQ MSH6_06540
4 c.2979A>T - p.E993D 0.025 4.62 0.0036 Thompson et al., 2013 DNA SEQ MSH6_06541
4 c.2980T>A - p.Y994N 0.952 17.86 0.8020 Thompson et al., 2013 DNA SEQ MSH6_06542
4 c.2980T>C - p.Y994H 0.963 16.52 0.7805 Thompson et al., 2013 DNA SEQ MSH6_06543
4 c.2980T>G - p.Y994D 0.952 35.81 0.9516 Thompson et al., 2013 DNA SEQ MSH6_06544
4 c.2981A>C - p.Y994S 0.896 18.59 0.7775 Thompson et al., 2013 DNA SEQ MSH6_06545
4 c.2981A>G - p.Y994C 0.963 23.02 0.8831 Thompson et al., 2013 DNA SEQ MSH6_06546
4 c.2981A>T - p.Y994F 0.072 22.82 0.1426 Thompson et al., 2013 DNA SEQ MSH6_06547
4 c.2983G>A - p.E995K 0.099 5.96 0.0088 Thompson et al., 2013 DNA SEQ MSH6_06548
4 c.2983G>C - p.E995Q 0.084 2.38 0.0010 Thompson et al., 2013 DNA SEQ MSH6_06549
4 c.2984A>C - p.E995A 0.084 7.43 0.0135 Thompson et al., 2013 DNA SEQ MSH6_06550
4 c.2984A>G - p.E995G 0.061 11.48 0.0323 Thompson et al., 2013 DNA SEQ MSH6_06551
4 c.2984A>T - p.E995V 0.010 4.00 0.0024 Thompson et al., 2013 DNA SEQ MSH6_06552
4 c.2985G>C - p.E995D 0.059 3.79 0.0027 Thompson et al., 2013 DNA SEQ MSH6_06553
4 c.2985G>T - p.E995D 0.059 3.79 0.0027 Thompson et al., 2013 DNA SEQ MSH6_06554
4 c.2986T>A - p.L996M 0.461 9.91 0.1161 Thompson et al., 2013 DNA SEQ MSH6_06555
4 c.2986T>G - p.L996V 0.055 8.23 0.0151 Thompson et al., 2013 DNA SEQ MSH6_06556
4 c.2987T>C - p.L996S 0.326 17.95 0.2216 Thompson et al., 2013 DNA SEQ MSH6_06557
4 c.2987T>G - p.L996W 0.911 16.52 0.7402 Thompson et al., 2013 DNA SEQ MSH6_06558
4 c.2988G>C - p.L996F 0.223 7.21 0.0226 Thompson et al., 2013 DNA SEQ MSH6_06559
4 c.2988G>T - p.L996F 0.223 7.21 0.0226 Thompson et al., 2013 DNA SEQ MSH6_06560
4 c.2989A>C - p.K997Q 0.066 2.63 0.0012 Thompson et al., 2013 DNA SEQ MSH6_06561
4 c.2989A>G - p.K997E 0.046 5.58 0.0061 Thompson et al., 2013 DNA SEQ MSH6_06562
4 c.2990A>C - p.K997T 0.008 5.32 0.0046 Thompson et al., 2013 DNA SEQ MSH6_06563
4 c.2990A>G - p.K997R 0.048 2.04 0.0006 Thompson et al., 2013 DNA SEQ MSH6_06564
4 c.2990A>T - p.K997I 0.066 8.30 0.0161 Thompson et al., 2013 DNA SEQ MSH6_06565
4 c.2991A>C - p.K997N 0.487 3.79 0.0163 Thompson et al., 2013 DNA SEQ MSH6_06566
4 c.2991A>T - p.K997N 0.487 3.79 0.0163 Thompson et al., 2013 DNA SEQ MSH6_06567
4 c.2992T>A - p.S998T 0.977 7.43 0.3810 Thompson et al., 2013 DNA SEQ MSH6_06568
4 c.2992T>C - p.S998P 0.992 18.26 0.8347 Thompson et al., 2013 DNA SEQ MSH6_06569
4 c.2992T>G - p.S998A 0.840 19.32 0.7503 Thompson et al., 2013 DNA SEQ MSH6_06570
4 c.2993C>A - p.S998Y 0.992 14.18 0.7399 Thompson et al., 2013 DNA SEQ MSH6_06571
4 c.2993C>G - p.S998C 0.992 16.85 0.8080 Thompson et al., 2013 DNA SEQ MSH6_06572
4 c.2993C>T - p.S998F 0.992 17.41 0.8193 Thompson et al., 2013 DNA SEQ MSH6_06573
4 c.2995A>C - p.T999P 0.364 10.81 0.0957 Thompson et al., 2013 DNA SEQ MSH6_06574
4 c.2995A>G - p.T999A 0.013 8.14 0.0123 Thompson et al., 2013 DNA SEQ MSH6_06575
4 c.2995A>T - p.T999S 0.003 1.80 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06576
4 c.2996C>A - p.T999N 0.180 3.17 0.0030 Thompson et al., 2013 DNA SEQ MSH6_06577
4 c.2996C>G - p.T999S 0.003 1.80 0.0004 Thompson et al., 2013 DNA SEQ MSH6_06578
4 c.2996C>T - p.T999I 0.180 8.04 0.0241 Thompson et al., 2013 DNA SEQ MSH6_06579
4 c.2998A>C - p.K1000Q 0.689 10.94 0.3028 Thompson et al., 2013 DNA SEQ MSH6_06580
4 c.2998A>G - p.K1000E 0.422 20.42 0.3648 Thompson et al., 2013 DNA SEQ MSH6_06581
4 c.2999A>C - p.K1000T 0.006 23.45 0.1179 Thompson et al., 2013 DNA SEQ MSH6_06582
4 c.2999A>G - p.K1000R 0.035 3.45 0.0019 Thompson et al., 2013 DNA SEQ MSH6_06583
4 c.2999A>T - p.K1000M 0.707 14.74 0.4799 Thompson et al., 2013 DNA SEQ MSH6_06584
4 c.3000G>C - p.K1000N 0.137 12.81 0.0559 Thompson et al., 2013 DNA SEQ MSH6_06585
4 c.3000G>T - p.K1000N 0.137 12.81 0.0559 Thompson et al., 2013 DNA SEQ MSH6_06586
4 c.3001A>C - p.K1001Q 0.840 14.08 0.5944 Thompson et al., 2013 DNA SEQ MSH6_06587
4 c.3001A>G - p.K1001E 0.977 23.70 0.8954 Thompson et al., 2013 DNA SEQ MSH6_06588
4 c.3002A>C - p.K1001T 0.846 27.99 0.8773 Thompson et al., 2013 DNA SEQ MSH6_06589
4 c.3002A>G - p.K1001R 0.781 7.31 0.2047 Thompson et al., 2013 DNA SEQ MSH6_06590
4 c.3002A>T - p.K1001M 0.987 17.24 0.8127 Thompson et al., 2013 DNA SEQ MSH6_06591
4 c.3003G>C - p.K1001N 0.990 14.55 0.7494 Thompson et al., 2013 DNA SEQ MSH6_06592
4 c.3003G>T - p.K1001N 0.990 14.55 0.7494 Thompson et al., 2013 DNA SEQ MSH6_06593
4 c.3004G>A - p.G1002S 0.589 7.50 0.1075 Thompson et al., 2013 DNA SEQ MSH6_06594
4 c.3004G>C - p.G1002R 0.907 36.52 0.9443 Thompson et al., 2013 DNA SEQ MSH6_06595
4 c.3004G>T - p.G1002C 0.989 19.13 0.8472 Thompson et al., 2013 DNA SEQ MSH6_06596
4 c.3005G>A - p.G1002D 0.716 35.86 0.8782 Thompson et al., 2013 DNA SEQ MSH6_06597
4 c.3005G>C - p.G1002A 0.680 22.05 0.6723 Thompson et al., 2013 DNA SEQ MSH6_06598
4 c.3005G>T - p.G1002V 0.796 29.36 0.8656 Thompson et al., 2013 DNA SEQ MSH6_06599
4 c.3007T>A - p.C1003S 0.003 9.16 0.0154 Thompson et al., 2013 DNA SEQ MSH6_06600
6501 - 6600
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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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