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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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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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1 c.146C>T - p.A49V 0.119 10.32 0.0325 Thompson et al., 2013 DNA SEQ MSH6_00301
1 c.148T>A - p.W50R 0.002 2.46 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00302
1 c.148T>C - p.W50R 0.002 2.46 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00303
1 c.148T>G - p.W50G 0.001 3.17 0.0014 Thompson et al., 2013 DNA SEQ MSH6_00304
1 c.149G>C - p.W50S 0.015 2.32 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00305
1 c.149G>T - p.W50L 0.025 7.30 0.0101 Thompson et al., 2013 DNA SEQ MSH6_00306
1 c.150G>C - p.W50C 0.179 5.78 0.0115 Thompson et al., 2013 DNA SEQ MSH6_00307
1 c.150G>T - p.W50C 0.179 5.78 0.0115 Thompson et al., 2013 DNA SEQ MSH6_00308
1 c.151A>C - p.S51R 0.015 5.32 0.0048 Thompson et al., 2013 DNA SEQ MSH6_00309
1 c.151A>G - p.S51G 0.006 2.50 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00310
1 c.151A>T - p.S51C 0.122 3.18 0.0023 Thompson et al., 2013 DNA SEQ MSH6_00311
1 c.152G>A - p.S51N 0.000 2.62 0.0009 Thompson et al., 2013 DNA SEQ MSH6_00312
1 c.152G>C - p.S51T 0.006 2.35 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00313
1 c.152G>T - p.S51I 0.044 4.59 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00314
1 c.153C>A - p.S51R 0.015 5.32 0.0048 Thompson et al., 2013 DNA SEQ MSH6_00315
1 c.153C>G - p.S51R 0.015 5.32 0.0048 Thompson et al., 2013 DNA SEQ MSH6_00316
1 c.154G>A - p.E52K 0.001 2.64 0.0009 Thompson et al., 2013 DNA SEQ MSH6_00317
1 c.154G>C - p.E52Q 0.059 2.06 0.0007 Thompson et al., 2013 DNA SEQ MSH6_00318
1 c.155A>C - p.E52A 0.056 3.26 0.0019 Thompson et al., 2013 DNA SEQ MSH6_00319
1 c.155A>G - p.E52G 0.095 3.74 0.0030 Thompson et al., 2013 DNA SEQ MSH6_00320
1 c.155A>T - p.E52V 0.085 6.70 0.0108 Thompson et al., 2013 DNA SEQ MSH6_00321
1 c.156G>C - p.E52D 0.034 1.96 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00322
1 c.156G>T - p.E52D 0.034 1.96 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00323
1 c.157G>A - p.A53T 0.076 - 0.0045 Thompson et al., 2013 DNA SEQ MSH6_00324
1 c.157G>C - p.A53P 0.268 - 0.0225 Thompson et al., 2013 DNA SEQ MSH6_00325
1 c.157G>T - p.A53S 0.044 - 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00326
1 c.158C>A - p.A53D 0.044 - 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00327
1 c.158C>G - p.A53G 0.071 - 0.0043 Thompson et al., 2013 DNA SEQ MSH6_00328
1 c.158C>T - p.A53V 0.119 - 0.0065 Thompson et al., 2013 DNA SEQ MSH6_00329
1 c.160G>A - p.G54R 0.015 2.76 0.0011 Thompson et al., 2013 DNA SEQ MSH6_00330
1 c.160G>C - p.G54R 0.015 2.76 0.0011 Thompson et al., 2013 DNA SEQ MSH6_00331
1 c.160G>T - p.G54W 0.122 4.10 0.0042 Thompson et al., 2013 DNA SEQ MSH6_00332
1 c.161G>A - p.G54E 0.001 2.08 0.0005 Thompson et al., 2013 DNA SEQ MSH6_00333
1 c.161G>C - p.G54A 0.006 3.11 0.0014 Thompson et al., 2013 DNA SEQ MSH6_00334
1 c.161G>T - p.G54V 0.027 6.60 0.0082 Thompson et al., 2013 DNA SEQ MSH6_00335
1 c.163C>A - p.P55T 0.067 2.70 0.0013 Thompson et al., 2013 DNA SEQ MSH6_00336
1 c.163C>G - p.P55A 0.003 4.47 0.0031 Thompson et al., 2013 DNA SEQ MSH6_00337
1 c.163C>T - p.P55S 0.024 1.82 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00338
1 c.164C>A - p.P55H 0.373 3.49 0.0084 Thompson et al., 2013 DNA SEQ MSH6_00339
1 c.164C>G - p.P55R 0.163 4.19 0.0052 Thompson et al., 2013 DNA SEQ MSH6_00340
1 c.164C>T - p.P55L 0.060 7.16 0.0113 Thompson et al., 2013 DNA SEQ MSH6_00341
1 c.166G>A - p.G56R 0.181 - 0.0109 Thompson et al., 2013 DNA SEQ MSH6_00342
1 c.166G>C - p.G56R 0.181 - 0.0109 Thompson et al., 2013 DNA SEQ MSH6_00343
1 c.166G>T - p.G56W 0.528 - 0.1712 Thompson et al., 2013 DNA SEQ MSH6_00344
1 c.167G>A - p.G56E 0.108 - 0.0059 Thompson et al., 2013 DNA SEQ MSH6_00345
1 c.167G>C - p.G56A 0.006 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00346
1 c.167G>T - p.G56V 0.108 - 0.0059 Thompson et al., 2013 DNA SEQ MSH6_00347
1 c.169C>A - p.P57T 0.002 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00348
1 c.169C>G - p.P57A 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00349
1 c.169C>T - p.P57S 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00350
1 c.170C>A - p.P57H 0.045 - 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00351
1 c.170C>G - p.P57R 0.025 - 0.0029 Thompson et al., 2013 DNA SEQ MSH6_00352
1 c.170C>T - p.P57L 0.009 - 0.0026 Thompson et al., 2013 DNA SEQ MSH6_00353
1 c.172A>G - p.R58G 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00354
1 c.172A>T - p.R58W 0.104 - 0.0057 Thompson et al., 2013 DNA SEQ MSH6_00355
1 c.173G>A - p.R58K 0.004 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00356
1 c.173G>C - p.R58T 0.006 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00357
1 c.173G>T - p.R58M 0.079 - 0.0046 Thompson et al., 2013 DNA SEQ MSH6_00358
1 c.174G>C - p.R58S 0.007 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00359
1 c.174G>T - p.R58S 0.007 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00360
1 c.175C>A - p.P59T 0.003 2.51 0.0008 Thompson et al., 2013 DNA SEQ MSH6_00361
1 c.175C>G - p.P59A 0.009 3.73 0.0021 Thompson et al., 2013 DNA SEQ MSH6_00362
1 c.175C>T - p.P59S 0.000 1.73 0.0004 Thompson et al., 2013 DNA SEQ MSH6_00363
1 c.176C>A - p.P59H 0.070 12.14 0.0379 Thompson et al., 2013 DNA SEQ MSH6_00364
1 c.176C>G - p.P59R 0.022 34.88 0.2605 Thompson et al., 2013 DNA SEQ MSH6_00365
1 c.176C>T - p.P59L 0.025 8.63 0.0148 Thompson et al., 2013 DNA SEQ MSH6_00366
1 c.178T>A - p.L60M 0.025 - 0.0029 Thompson et al., 2013 DNA SEQ MSH6_00367
1 c.178T>G - p.L60V 0.005 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00368
1 c.179T>C - p.L60S 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00369
1 c.179T>G - p.L60W 0.116 - 0.0063 Thompson et al., 2013 DNA SEQ MSH6_00370
1 c.180G>C - p.L60F 0.023 - 0.0029 Thompson et al., 2013 DNA SEQ MSH6_00371
1 c.180G>T - p.L60F 0.023 - 0.0029 Thompson et al., 2013 DNA SEQ MSH6_00372
1 c.181G>A - p.A61T 0.032 - 0.0031 Thompson et al., 2013 DNA SEQ MSH6_00373
1 c.181G>C - p.A61P 0.183 - 0.0111 Thompson et al., 2013 DNA SEQ MSH6_00374
1 c.181G>T - p.A61S 0.003 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00375
1 c.182C>A - p.A61E 0.109 - 0.0060 Thompson et al., 2013 DNA SEQ MSH6_00376
1 c.182C>G - p.A61G 0.045 - 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00377
1 c.182C>T - p.A61V 0.077 - 0.0046 Thompson et al., 2013 DNA SEQ MSH6_00378
1 c.184C>A - p.R62S 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00379
1 c.184C>G - p.R62G 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00380
1 c.184C>T - p.R62C 0.001 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00381
1 c.185G>A - p.R62H 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00382
1 c.185G>C - p.R62P 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00383
1 c.185G>T - p.R62L 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00384
1 c.187T>A - p.S63T 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00385
1 c.187T>C - p.S63P 0.015 - 0.0027 Thompson et al., 2013 DNA SEQ MSH6_00386
1 c.187T>G - p.S63A 0.006 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00387
1 c.188C>A - p.S63Y 0.036 - 0.0032 Thompson et al., 2013 DNA SEQ MSH6_00388
1 c.188C>G - p.S63C 0.047 - 0.0035 Thompson et al., 2013 DNA SEQ MSH6_00389
1 c.188C>T - p.S63F 0.027 - 0.0030 Thompson et al., 2013 DNA SEQ MSH6_00390
1 c.190G>A - p.A64T 0.000 - 0.0024 Thompson et al., 2013 DNA SEQ MSH6_00391
1 c.190G>C - p.A64P 0.049 - 0.0036 Thompson et al., 2013 DNA SEQ MSH6_00392
1 c.190G>T - p.A64S 0.004 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00393
1 c.191C>A - p.A64E 0.027 - 0.0030 Thompson et al., 2013 DNA SEQ MSH6_00394
1 c.191C>G - p.A64G 0.018 - 0.0028 Thompson et al., 2013 DNA SEQ MSH6_00395
1 c.191C>T - p.A64V 0.004 - 0.0025 Thompson et al., 2013 DNA SEQ MSH6_00396
1 c.193T>A - p.S65T 0.015 2.09 0.0006 Thompson et al., 2013 DNA SEQ MSH6_00397
1 c.193T>C - p.S65P 0.173 5.19 0.0088 Thompson et al., 2013 DNA SEQ MSH6_00398
1 c.193T>G - p.S65A 0.015 4.85 0.0039 Thompson et al., 2013 DNA SEQ MSH6_00399
1 c.194C>T - p.S65L 0.001 6.01 0.0059 Thompson et al., 2013 DNA SEQ MSH6_00400
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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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