View all contents - LOVD - human mismatch repair genes

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.

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The variants below are all in the MSH6_priors database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than MSH6_priors, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the MSH6_priors full legend here.

8948 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

Custom PP2.1 score

MAPP score

MAPP/PP2 Prior P

Reference

Template

Technique

DB-ID

Disease

Reference

Remarks


?/?	1	c.50T>G	-	p.L17R	0.027	4.67	0.0037	Thompson et al., 2013	DNA	SEQ	MSH6_00101	-	-	-
?/?	1	c.52A>C	-	p.S18R	0.000	2.64	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00102	-	-	-
?/?	1	c.52A>G	-	p.S18G	0.000	2.54	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_00103	-	-	-
?/?	1	c.52A>T	-	p.S18C	0.018	4.34	0.0030	Thompson et al., 2013	DNA	SEQ	MSH6_00104	-	-	-
?/?	1	c.53G>A	-	p.S18N	0.000	2.17	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_00105	-	-	-
?/?	1	c.53G>C	-	p.S18T	0.000	4.13	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00106	-	-	-
?/?	1	c.53G>T	-	p.S18I	0.005	4.68	0.0034	Thompson et al., 2013	DNA	SEQ	MSH6_00107	-	-	-
?/?	1	c.54T>A	-	p.S18R	0.000	2.64	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00108	-	-	-
?/?	1	c.54T>G	-	p.S18R	0.000	2.64	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00109	-	-	-
?/?	1	c.55G>A	-	p.D19N	0.000	1.41	0.0002	Thompson et al., 2013	DNA	SEQ	MSH6_00110	-	-	-
?/?	1	c.55G>C	-	p.D19H	0.023	2.00	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_00111	-	-	-
?/?	1	c.55G>T	-	p.D19Y	0.027	3.43	0.0019	Thompson et al., 2013	DNA	SEQ	MSH6_00112	-	-	-
?/?	1	c.56A>C	-	p.D19A	0.000	4.14	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00113	-	-	-
?/?	1	c.56A>G	-	p.D19G	0.004	2.81	0.0011	Thompson et al., 2013	DNA	SEQ	MSH6_00114	-	-	-
?/?	1	c.56A>T	-	p.D19V	0.004	3.17	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_00115	-	-	-
?/?	1	c.57T>A	-	p.D19E	0.004	4.46	0.0031	Thompson et al., 2013	DNA	SEQ	MSH6_00116	-	-	-
?/?	1	c.57T>G	-	p.D19E	0.004	4.46	0.0031	Thompson et al., 2013	DNA	SEQ	MSH6_00117	-	-	-
?/?	1	c.58G>A	-	p.A20T	0.000	5.67	0.0052	Thompson et al., 2013	DNA	SEQ	MSH6_00118	-	-	-
?/?	1	c.58G>C	-	p.A20P	0.000	7.60	0.0100	Thompson et al., 2013	DNA	SEQ	MSH6_00119	-	-	-
?/?	1	c.58G>T	-	p.A20S	0.001	2.76	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_00120	-	-	-
?/?	1	c.59C>A	-	p.A20D	0.023	3.43	0.0018	Thompson et al., 2013	DNA	SEQ	MSH6_00121	-	-	-
?/?	1	c.59C>G	-	p.A20G	0.009	2.99	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_00122	-	-	-
?/?	1	c.59C>T	-	p.A20V	0.004	8.53	0.0132	Thompson et al., 2013	DNA	SEQ	MSH6_00123	-	-	-
?/?	1	c.61A>C	-	p.N21H	0.025	3.17	0.0015	Thompson et al., 2013	DNA	SEQ	MSH6_00124	-	-	-
?/?	1	c.61A>G	-	p.N21D	0.005	4.01	0.0024	Thompson et al., 2013	DNA	SEQ	MSH6_00125	-	-	-
?/?	1	c.61A>T	-	p.N21Y	0.025	6.13	0.0068	Thompson et al., 2013	DNA	SEQ	MSH6_00126	-	-	-
?/?	1	c.62A>C	-	p.N21T	0.000	5.24	0.0043	Thompson et al., 2013	DNA	SEQ	MSH6_00127	-	-	-
?/?	1	c.62A>G	-	p.N21S	0.002	2.95	0.0012	Thompson et al., 2013	DNA	SEQ	MSH6_00128	-	-	-
?/?	1	c.62A>T	-	p.N21I	0.016	5.52	0.0052	Thompson et al., 2013	DNA	SEQ	MSH6_00129	-	-	-
?/?	1	c.63C>A	-	p.N21K	0.000	1.62	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_00130	-	-	-
?/?	1	c.63C>G	-	p.N21K	0.000	1.62	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_00131	-	-	-
?/?	1	c.64A>C	-	p.K22Q	0.010	3.02	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_00132	-	-	-
?/?	1	c.64A>G	-	p.K22E	0.001	6.37	0.0067	Thompson et al., 2013	DNA	SEQ	MSH6_00133	-	-	-
?/?	1	c.65A>C	-	p.K22T	0.001	5.09	0.0041	Thompson et al., 2013	DNA	SEQ	MSH6_00134	-	-	-
?/?	1	c.65A>G	-	p.K22R	0.015	1.99	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_00135	-	-	-
?/?	1	c.65A>T	-	p.K22M	0.070	4.29	0.0037	Thompson et al., 2013	DNA	SEQ	MSH6_00136	-	-	-
?/?	1	c.66G>C	-	p.K22N	0.015	3.80	0.0022	Thompson et al., 2013	DNA	SEQ	MSH6_00137	-	-	-
?/?	1	c.66G>T	-	p.K22N	0.015	3.80	0.0022	Thompson et al., 2013	DNA	SEQ	MSH6_00138	-	-	-
?/?	1	c.67G>A	-	p.A23T	0.002	8.75	0.0138	Thompson et al., 2013	DNA	SEQ	MSH6_00139	-	-	-
?/?	1	c.67G>C	-	p.A23P	0.000	13.34	0.0349	Thompson et al., 2013	DNA	SEQ	MSH6_00140	-	-	-
?/?	1	c.67G>T	-	p.A23S	0.000	2.51	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_00141	-	-	-
?/?	1	c.68C>A	-	p.A23D	0.006	7.57	0.0102	Thompson et al., 2013	DNA	SEQ	MSH6_00142	-	-	-
?/?	1	c.68C>G	-	p.A23G	0.006	2.53	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00143	-	-	-
?/?	1	c.68C>T	-	p.A23V	0.006	14.54	0.0432	Thompson et al., 2013	DNA	SEQ	MSH6_00144	-	-	-
?/?	1	c.70T>A	-	p.S24T	0.004	4.06	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00145	-	-	-
?/?	1	c.70T>C	-	p.S24P	0.000	2.68	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00146	-	-	-
?/?	1	c.70T>G	-	p.S24A	0.000	2.23	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_00147	-	-	-
?/?	1	c.71C>G	-	p.S24W	0.142	8.34	0.0223	Thompson et al., 2013	DNA	SEQ	MSH6_00148	-	-	-
?/?	1	c.71C>T	-	p.S24L	0.004	5.20	0.0043	Thompson et al., 2013	DNA	SEQ	MSH6_00149	-	-	-
?/?	1	c.73G>A	-	p.A25T	0.001	2.32	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_00150	-	-	-
?/?	1	c.73G>C	-	p.A25P	0.000	3.27	0.0015	Thompson et al., 2013	DNA	SEQ	MSH6_00151	-	-	-
?/?	1	c.73G>T	-	p.A25S	0.004	1.76	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_00152	-	-	-
?/?	1	c.74C>A	-	p.A25D	0.006	4.16	0.0026	Thompson et al., 2013	DNA	SEQ	MSH6_00153	-	-	-
?/?	1	c.74C>G	-	p.A25G	0.000	2.11	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_00154	-	-	-
?/?	1	c.74C>T	-	p.A25V	0.000	2.43	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_00155	-	-	-
?/?	1	c.76A>G	-	p.R26G	0.006	2.85	0.0011	Thompson et al., 2013	DNA	SEQ	MSH6_00156	-	-	-
?/?	1	c.76A>T	-	p.R26W	0.057	3.48	0.0022	Thompson et al., 2013	DNA	SEQ	MSH6_00157	-	-	-
?/?	1	c.77G>A	-	p.R26K	0.002	1.87	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_00158	-	-	-
?/?	1	c.77G>C	-	p.R26T	0.002	3.11	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_00159	-	-	-
?/?	1	c.77G>T	-	p.R26M	0.010	1.87	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_00160	-	-	-
?/?	1	c.78G>C	-	p.R26S	0.006	1.94	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_00161	-	-	-
?/?	1	c.78G>T	-	p.R26S	0.006	1.94	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_00162	-	-	-
?/?	1	c.79G>A	-	p.A27T	0.052	2.79	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_00163	-	-	-
?/?	1	c.79G>C	-	p.A27P	0.181	3.25	0.0032	Thompson et al., 2013	DNA	SEQ	MSH6_00164	-	-	-
?/?	1	c.79G>T	-	p.A27S	0.003	2.34	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_00165	-	-	-
?/?	1	c.80C>A	-	p.A27D	0.108	32.90	0.3079	Thompson et al., 2013	DNA	SEQ	MSH6_00166	-	-	-
?/?	1	c.80C>G	-	p.A27G	0.002	3.35	0.0016	Thompson et al., 2013	DNA	SEQ	MSH6_00167	-	-	-
?/?	1	c.80C>T	-	p.A27V	0.076	2.73	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_00168	-	-	-
?/?	1	c.82T>A	-	p.S28T	0.006	-	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00169	-	-	-
?/?	1	c.82T>C	-	p.S28P	0.000	-	0.0024	Thompson et al., 2013	DNA	SEQ	MSH6_00170	-	-	-
?/?	1	c.82T>G	-	p.S28A	0.006	-	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00171	-	-	-
?/?	1	c.83C>T	-	p.S28L	0.017	-	0.0027	Thompson et al., 2013	DNA	SEQ	MSH6_00172	-	-	-
?/?	1	c.85C>A	-	p.R29S	0.000	-	0.0024	Thompson et al., 2013	DNA	SEQ	MSH6_00173	-	-	-
?/?	1	c.85C>G	-	p.R29G	0.000	-	0.0024	Thompson et al., 2013	DNA	SEQ	MSH6_00174	-	-	-
?/?	1	c.85C>T	-	p.R29C	0.018	-	0.0028	Thompson et al., 2013	DNA	SEQ	MSH6_00175	-	-	-
?/?	1	c.86G>A	-	p.R29H	0.013	-	0.0027	Thompson et al., 2013	DNA	SEQ	MSH6_00176	-	-	-
?/?	1	c.86G>C	-	p.R29P	0.004	-	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00177	-	-	-
?/?	1	c.86G>T	-	p.R29L	0.004	-	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_00178	-	-	-
?/?	1	c.88G>A	-	p.E30K	0.000	5.06	0.0040	Thompson et al., 2013	DNA	SEQ	MSH6_00179	-	-	-
?/?	1	c.88G>C	-	p.E30Q	0.000	2.57	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00180	-	-	-
?/?	1	c.89A>C	-	p.E30A	0.000	3.42	0.0016	Thompson et al., 2013	DNA	SEQ	MSH6_00181	-	-	-
?/?	1	c.89A>G	-	p.E30G	0.000	1.90	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_00182	-	-	-
?/?	1	c.89A>T	-	p.E30V	0.000	4.97	0.0038	Thompson et al., 2013	DNA	SEQ	MSH6_00183	-	-	-
?/?	1	c.90A>C	-	p.E30D	0.000	5.64	0.0051	Thompson et al., 2013	DNA	SEQ	MSH6_00184	-	-	-
?/?	1	c.90A>T	-	p.E30D	0.000	5.64	0.0051	Thompson et al., 2013	DNA	SEQ	MSH6_00185	-	-	-
?/?	1	c.91G>A	-	p.G31S	0.000	3.88	0.0022	Thompson et al., 2013	DNA	SEQ	MSH6_00186	-	-	-
?/?	1	c.91G>C	-	p.G31R	0.001	5.34	0.0045	Thompson et al., 2013	DNA	SEQ	MSH6_00187	-	-	-
?/?	1	c.91G>T	-	p.G31C	0.047	7.26	0.0110	Thompson et al., 2013	DNA	SEQ	MSH6_00188	-	-	-
?/?	1	c.92G>A	-	p.G31D	0.015	1.15	0.0001	Thompson et al., 2013	DNA	SEQ	MSH6_00189	-	-	-
?/?	1	c.92G>C	-	p.G31A	0.006	5.80	0.0056	Thompson et al., 2013	DNA	SEQ	MSH6_00190	-	-	-
?/?	1	c.92G>T	-	p.G31V	0.010	9.79	0.0184	Thompson et al., 2013	DNA	SEQ	MSH6_00191	-	-	-
?/?	1	c.94G>A	-	p.G32S	0.000	1.62	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_00192	-	-	-
?/?	1	c.94G>C	-	p.G32R	0.009	2.58	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00193	-	-	-
?/?	1	c.94G>T	-	p.G32C	0.000	2.67	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_00194	-	-	-
?/?	1	c.95G>A	-	p.G32D	0.004	3.79	0.0021	Thompson et al., 2013	DNA	SEQ	MSH6_00195	-	-	-
?/?	1	c.95G>C	-	p.G32A	0.004	3.26	0.0015	Thompson et al., 2013	DNA	SEQ	MSH6_00196	-	-	-
?/?	1	c.95G>T	-	p.G32V	0.006	3.48	0.0018	Thompson et al., 2013	DNA	SEQ	MSH6_00197	-	-	-
?/?	1	c.97C>A	-	p.R33S	0.002	3.92	0.0023	Thompson et al., 2013	DNA	SEQ	MSH6_00198	-	-	-
?/?	1	c.97C>G	-	p.R33G	0.000	4.16	0.0026	Thompson et al., 2013	DNA	SEQ	MSH6_00199	-	-	-
?/?	1	c.97C>T	-	p.R33C	0.030	4.54	0.0035	Thompson et al., 2013	DNA	SEQ	MSH6_00200	-	-	-

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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.

LOVD - human mismatch repair genes

In silico MSH6 priors (MSH6_priors)