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.

About this overview [Show]

The variants below are all in the PMS2_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 PMS2_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 PMS2_priors full legend here.

5735 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.4G>A	-	p.E2K	0.925	2.85	0.0530	Thompson et al., 2013	DNA	SEQ	PMS2_00001	-	-	-
?/?	1	c.4G>C	-	p.E2Q	0.948	1.88	0.0235	Thompson et al., 2013	DNA	SEQ	PMS2_00002	-	-	-
?/?	1	c.5A>C	-	p.E2A	0.925	2.92	0.0559	Thompson et al., 2013	DNA	SEQ	PMS2_00003	-	-	-
?/?	1	c.5A>G	-	p.E2G	0.948	2.89	0.0599	Thompson et al., 2013	DNA	SEQ	PMS2_00004	-	-	-
?/?	1	c.5A>T	-	p.E2V	0.971	7.68	0.3927	Thompson et al., 2013	DNA	SEQ	PMS2_00005	-	-	-
?/?	1	c.6G>C	-	p.E2D	0.875	3.48	0.0665	Thompson et al., 2013	DNA	SEQ	PMS2_00007	-	-	-
?/?	1	c.6G>T	-	p.E2D	0.875	3.48	0.0665	Thompson et al., 2013	DNA	SEQ	PMS2_00006	-	-	-
?/?	1	c.7C>G	-	p.R3G	0.031	3.85	0.0025	Thompson et al., 2013	DNA	SEQ	PMS2_00008	-	-	-
?/?	1	c.8G>A	-	p.R3Q	0.003	1.95	0.0005	Thompson et al., 2013	DNA	SEQ	PMS2_00011	-	-	-
?/?	1	c.8G>C	-	p.R3P	0.000	8.12	0.0116	Thompson et al., 2013	DNA	SEQ	PMS2_00010	-	-	-
?/?	1	c.8G>T	-	p.R3L	0.031	3.98	0.0026	Thompson et al., 2013	DNA	SEQ	PMS2_00009	-	-	-
?/?	1	c.10G>A	-	p.A4T	0.003	3.69	0.0020	Thompson et al., 2013	DNA	SEQ	PMS2_00014	-	-	-
?/?	1	c.10G>C	-	p.A4P	0.003	6.69	0.0076	Thompson et al., 2013	DNA	SEQ	PMS2_00012	-	-	-
?/?	1	c.10G>T	-	p.A4S	0.008	2.52	0.0009	Thompson et al., 2013	DNA	SEQ	PMS2_00013	-	-	-
?/?	1	c.11C>A	-	p.A4D	0.153	3.93	0.0043	Thompson et al., 2013	DNA	SEQ	PMS2_00015	-	-	-
?/?	1	c.11C>G	-	p.A4G	0.065	3.06	0.0017	Thompson et al., 2013	DNA	SEQ	PMS2_00016	-	-	-
?/?	1	c.11C>T	-	p.A4V	0.076	3.88	0.0030	Thompson et al., 2013	DNA	SEQ	PMS2_00017	-	-	-
?/?	1	c.13G>A	-	p.E5K	0.022	-	0.0029	Thompson et al., 2013	DNA	SEQ	PMS2_00018	-	-	-
?/?	1	c.13G>C	-	p.E5Q	0.056	-	0.0038	Thompson et al., 2013	DNA	SEQ	PMS2_00019	-	-	-
?/?	1	c.14A>C	-	p.E5A	0.007	-	0.0025	Thompson et al., 2013	DNA	SEQ	PMS2_00020	-	-	-
?/?	1	c.14A>G	-	p.E5G	0.001	-	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00021	-	-	-
?/?	1	c.14A>T	-	p.E5V	0.062	-	0.0040	Thompson et al., 2013	DNA	SEQ	PMS2_00022	-	-	-
?/?	1	c.15G>C	-	p.E5D	0.001	-	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00024	-	-	-
?/?	1	c.15G>T	-	p.E5D	0.001	-	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00023	-	-	-
?/?	1	c.16A>C	-	p.S6R	0.054	-	0.0038	Thompson et al., 2013	DNA	SEQ	PMS2_00027	-	-	-
?/?	1	c.16A>G	-	p.S6G	0.000	-	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00026	-	-	-
?/?	1	c.16A>T	-	p.S6C	0.158	-	0.0090	Thompson et al., 2013	DNA	SEQ	PMS2_00025	-	-	-
?/?	1	c.17G>A	-	p.S6N	0.023	-	0.0029	Thompson et al., 2013	DNA	SEQ	PMS2_00029	-	-	-
?/?	1	c.17G>C	-	p.S6T	0.013	-	0.0027	Thompson et al., 2013	DNA	SEQ	PMS2_00030	-	-	-
?/?	1	c.17G>T	-	p.S6I	0.094	-	0.0053	Thompson et al., 2013	DNA	SEQ	PMS2_00028	-	-	-
?/?	1	c.18C>A	-	p.S6R	0.054	-	0.0038	Thompson et al., 2013	DNA	SEQ	PMS2_00031	-	-	-
?/?	1	c.18C>G	-	p.S6R	0.054	-	0.0038	Thompson et al., 2013	DNA	SEQ	PMS2_00032	-	-	-
?/?	1	c.19T>A	-	p.S7T	0.012	-	0.0026	Thompson et al., 2013	DNA	SEQ	PMS2_00035	-	-	-
?/?	1	c.19T>C	-	p.S7P	0.000	-	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00034	-	-	-
?/?	1	c.19T>G	-	p.S7A	0.001	-	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00033	-	-	-
?/?	1	c.20C>G	-	p.S7W	0.013	-	0.0027	Thompson et al., 2013	DNA	SEQ	PMS2_00037	-	-	-
?/?	1	c.20C>T	-	p.S7L	0.018	-	0.0028	Thompson et al., 2013	DNA	SEQ	PMS2_00036	-	-	-
?/?	1	c.22A>C	-	p.S8R	0.432	24.11	0.4663	Thompson et al., 2013	DNA	SEQ	PMS2_00040	-	-	-
?/?	1	c.22A>G	-	p.S8G	0.006	2.57	0.0009	Thompson et al., 2013	DNA	SEQ	PMS2_00039	-	-	-
?/?	1	c.22A>T	-	p.S8C	0.018	2.42	0.0008	Thompson et al., 2013	DNA	SEQ	PMS2_00038	-	-	-
?/?	1	c.23G>A	-	p.S8N	0.200	4.04	0.0056	Thompson et al., 2013	DNA	SEQ	PMS2_00042	-	-	-
?/?	1	c.23G>C	-	p.S8T	0.004	2.90	0.0012	Thompson et al., 2013	DNA	SEQ	PMS2_00043	-	-	-
?/?	1	c.23G>T	-	p.S8I	0.314	4.31	0.0105	Thompson et al., 2013	DNA	SEQ	PMS2_00041	-	-	-
?/?	2	c.24T>A	-	p.S8R	0.432	24.11	0.4663	Thompson et al., 2013	DNA	SEQ	PMS2_00045	-	-	-
?/?	2	c.24T>G	-	p.S8R	0.432	24.11	0.4663	Thompson et al., 2013	DNA	SEQ	PMS2_00044	-	-	-
?/?	2	c.25A>C	-	p.T9P	0.011	5.79	0.0057	Thompson et al., 2013	DNA	SEQ	PMS2_00047	-	-	-
?/?	2	c.25A>G	-	p.T9A	0.046	3.95	0.0028	Thompson et al., 2013	DNA	SEQ	PMS2_00046	-	-	-
?/?	2	c.25A>T	-	p.T9S	0.003	1.38	0.0002	Thompson et al., 2013	DNA	SEQ	PMS2_00048	-	-	-
?/?	2	c.26C>A	-	p.T9K	0.079	4.24	0.0037	Thompson et al., 2013	DNA	SEQ	PMS2_00050	-	-	-
?/?	2	c.26C>G	-	p.T9R	0.005	4.89	0.0038	Thompson et al., 2013	DNA	SEQ	PMS2_00051	-	-	-
?/?	2	c.26C>T	-	p.T9I	0.079	3.26	0.0021	Thompson et al., 2013	DNA	SEQ	PMS2_00049	-	-	-
?/?	2	c.28G>A	-	p.E10K	0.381	5.75	0.0264	Thompson et al., 2013	DNA	SEQ	PMS2_00052	-	-	-
?/?	2	c.28G>C	-	p.E10Q	0.191	3.03	0.0028	Thompson et al., 2013	DNA	SEQ	PMS2_00053	-	-	-
?/?	2	c.29A>C	-	p.E10A	0.633	6.54	0.0962	Thompson et al., 2013	DNA	SEQ	PMS2_00054	-	-	-
?/?	2	c.29A>G	-	p.E10G	0.530	10.31	0.1616	Thompson et al., 2013	DNA	SEQ	PMS2_00055	-	-	-
?/?	2	c.29A>T	-	p.E10V	0.813	5.36	0.1273	Thompson et al., 2013	DNA	SEQ	PMS2_00056	-	-	-
?/?	2	c.30A>C	-	p.E10D	0.026	5.28	0.0049	Thompson et al., 2013	DNA	SEQ	PMS2_00057	-	-	-
?/?	2	c.30A>T	-	p.E10D	0.026	5.28	0.0049	Thompson et al., 2013	DNA	SEQ	PMS2_00058	-	-	-
?/?	2	c.31C>A	-	p.P11T	0.005	2.43	0.0008	Thompson et al., 2013	DNA	SEQ	PMS2_00061	-	-	-
?/?	2	c.31C>G	-	p.P11A	0.046	2.85	0.0013	Thompson et al., 2013	DNA	SEQ	PMS2_00059	-	-	-
?/?	2	c.31C>T	-	p.P11S	0.005	2.68	0.0010	Thompson et al., 2013	DNA	SEQ	PMS2_00060	-	-	-
?/?	2	c.32C>A	-	p.P11H	0.295	2.38	0.0025	Thompson et al., 2013	DNA	SEQ	PMS2_00062	-	-	-
?/?	2	c.32C>G	-	p.P11R	0.188	5.11	0.0090	Thompson et al., 2013	DNA	SEQ	PMS2_00064	-	-	-
?/?	2	c.32C>T	-	p.P11L	0.002	2.63	0.0009	Thompson et al., 2013	DNA	SEQ	PMS2_00063	-	-	-
?/?	2	c.34G>A	-	p.A12T	0.995	33.24	0.9522	Thompson et al., 2013	DNA	SEQ	PMS2_00067	-	-	-
?/?	2	c.34G>C	-	p.A12P	0.996	38.15	0.9647	Thompson et al., 2013	DNA	SEQ	PMS2_00065	-	-	-
?/?	2	c.34G>T	-	p.A12S	0.991	23.39	0.8982	Thompson et al., 2013	DNA	SEQ	PMS2_00066	-	-	-
?/?	2	c.35C>A	-	p.A12D	0.996	43.15	0.9731	Thompson et al., 2013	DNA	SEQ	PMS2_00068	-	-	-
?/?	2	c.35C>G	-	p.A12G	0.991	22.29	0.8878	Thompson et al., 2013	DNA	SEQ	PMS2_00069	-	-	-
?/?	2	c.35C>T	-	p.A12V	0.995	35.49	0.9585	Thompson et al., 2013	DNA	SEQ	PMS2_00070	-	-	-
?/?	2	c.37A>C	-	p.K13Q	0.883	2.54	0.0348	Thompson et al., 2013	DNA	SEQ	PMS2_00072	-	-	-
?/?	2	c.37A>G	-	p.K13E	0.805	3.82	0.0613	Thompson et al., 2013	DNA	SEQ	PMS2_00071	-	-	-
?/?	2	c.38A>C	-	p.K13T	0.927	4.00	0.1087	Thompson et al., 2013	DNA	SEQ	PMS2_00075	-	-	-
?/?	2	c.38A>G	-	p.K13R	0.875	3.22	0.0564	Thompson et al., 2013	DNA	SEQ	PMS2_00074	-	-	-
?/?	2	c.38A>T	-	p.K13M	0.958	2.99	0.0671	Thompson et al., 2013	DNA	SEQ	PMS2_00073	-	-	-
?/?	2	c.39G>C	-	p.K13N	0.820	1.80	0.0125	Thompson et al., 2013	DNA	SEQ	PMS2_00076	-	-	-
?/?	2	c.39G>T	-	p.K13N	0.820	1.80	0.0125	Thompson et al., 2013	DNA	SEQ	PMS2_00077	-	-	-
?/?	2	c.40G>A	-	p.A14T	0.040	2.98	0.0014	Thompson et al., 2013	DNA	SEQ	PMS2_00080	-	-	-
?/?	2	c.40G>C	-	p.A14P	0.709	3.39	0.0320	Thompson et al., 2013	DNA	SEQ	PMS2_00078	-	-	-
?/?	2	c.40G>T	-	p.A14S	0.040	2.00	0.0006	Thompson et al., 2013	DNA	SEQ	PMS2_00079	-	-	-
?/?	2	c.41C>A	-	p.A14D	0.747	5.91	0.1208	Thompson et al., 2013	DNA	SEQ	PMS2_00081	-	-	-
?/?	2	c.41C>G	-	p.A14G	0.397	2.14	0.0031	Thompson et al., 2013	DNA	SEQ	PMS2_00082	-	-	-
?/?	2	c.41C>T	-	p.A14V	0.396	3.21	0.0076	Thompson et al., 2013	DNA	SEQ	PMS2_00083	-	-	-
?/?	2	c.43A>C	-	p.I15L	0.953	10.22	0.5340	Thompson et al., 2013	DNA	SEQ	PMS2_00085	-	-	-
?/?	2	c.43A>G	-	p.I15V	0.953	4.86	0.1749	Thompson et al., 2013	DNA	SEQ	PMS2_00086	-	-	-
?/?	2	c.43A>T	-	p.I15F	0.993	8.74	0.4878	Thompson et al., 2013	DNA	SEQ	PMS2_00084	-	-	-
?/?	2	c.44T>A	-	p.I15N	0.994	15.25	0.7719	Thompson et al., 2013	DNA	SEQ	PMS2_00087	-	-	-
?/?	2	c.44T>C	-	p.I15T	0.990	13.86	0.7281	Thompson et al., 2013	DNA	SEQ	PMS2_00089	-	-	-
?/?	2	c.44T>G	-	p.I15S	0.993	13.20	0.7083	Thompson et al., 2013	DNA	SEQ	PMS2_00088	-	-	-
?/?	2	c.45C>G	-	p.I15M	0.994	14.77	0.7589	Thompson et al., 2013	DNA	SEQ	PMS2_00090	-	-	-
?/?	2	c.46A>C	-	p.K16Q	0.589	2.56	0.0104	Thompson et al., 2013	DNA	SEQ	PMS2_00092	-	-	-
?/?	2	c.46A>G	-	p.K16E	0.440	4.57	0.0203	Thompson et al., 2013	DNA	SEQ	PMS2_00091	-	-	-
?/?	2	c.47A>C	-	p.K16T	0.704	8.89	0.2242	Thompson et al., 2013	DNA	SEQ	PMS2_00095	-	-	-
?/?	2	c.47A>G	-	p.K16R	0.032	2.07	0.0006	Thompson et al., 2013	DNA	SEQ	PMS2_00094	-	-	-
?/?	2	c.47A>T	-	p.K16I	0.812	7.29	0.2259	Thompson et al., 2013	DNA	SEQ	PMS2_00093	-	-	-
?/?	2	c.48A>C	-	p.K16N	0.589	4.07	0.0292	Thompson et al., 2013	DNA	SEQ	PMS2_00097	-	-	-
?/?	2	c.48A>T	-	p.K16N	0.589	4.07	0.0292	Thompson et al., 2013	DNA	SEQ	PMS2_00096	-	-	-
?/?	2	c.49C>A	-	p.P17T	0.501	4.82	0.0294	Thompson et al., 2013	DNA	SEQ	PMS2_00100	-	-	-
?/?	2	c.49C>G	-	p.P17A	0.048	2.14	0.0007	Thompson et al., 2013	DNA	SEQ	PMS2_00098	-	-	-
?/?	2	c.49C>T	-	p.P17S	0.377	3.77	0.0101	Thompson et al., 2013	DNA	SEQ	PMS2_00099	-	-	-

1 - 100
[<<] [<-] 1 2 3 4 5 6 ... [->] [>>]

Click here to save this list in a tab-delimited text file.

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: [ PMS2_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. PMS2 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 PMS2 priors (PMS2_priors)