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 MSH2_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 MSH2_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 MSH2_priors full legend here.

6175 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.A2T	0.292	33.24	0.4994	Thompson et al., 2013	DNA	SEQ	MSH2_00002	-	-	-
?/?	1	c.4G>C	-	p.A2P	0.958	38.15	0.9588	Thompson et al., 2013	DNA	SEQ	MSH2_00003	-	-	-
?/?	1	c.4G>T	-	p.A2S	0.846	23.39	0.8263	Thompson et al., 2013	DNA	SEQ	MSH2_00001	-	-	-
?/?	1	c.5C>A	-	p.A2E	0.958	37.64	0.9576	Thompson et al., 2013	DNA	SEQ	MSH2_00004	-	-	-
?/?	1	c.5C>G	-	p.A2G	0.292	22.29	0.2871	Thompson et al., 2013	DNA	SEQ	MSH2_00005	-	-	-
?/?	1	c.5C>T	-	p.A2V	0.909	35.49	0.9413	Thompson et al., 2013	DNA	SEQ	MSH2_00006	-	-	-
?/?	1	c.7G>A	-	p.V3M	0.275	8.83	0.0438	Thompson et al., 2013	DNA	SEQ	MSH2_00009	-	-	-
?/?	1	c.7G>C	-	p.V3L	0.002	4.21	0.0027	Thompson et al., 2013	DNA	SEQ	MSH2_00007	-	-	-
?/?	1	c.7G>T	-	p.V3L	0.002	4.21	0.0027	Thompson et al., 2013	DNA	SEQ	MSH2_00008	-	-	-
?/?	1	c.8T>A	-	p.V3E	0.131	33.45	0.3376	Thompson et al., 2013	DNA	SEQ	MSH2_00011	-	-	-
?/?	1	c.8T>C	-	p.V3A	0.055	6.07	0.0076	Thompson et al., 2013	DNA	SEQ	MSH2_00012	-	-	-
?/?	1	c.8T>G	-	p.V3G	0.093	9.02	0.0216	Thompson et al., 2013	DNA	SEQ	MSH2_00010	-	-	-
?/?	1	c.10C>A	-	p.Q4K	0.028	5.62	0.0057	Thompson et al., 2013	DNA	SEQ	MSH2_00013	-	-	-
?/?	1	c.10C>G	-	p.Q4E	0.016	4.54	0.0033	Thompson et al., 2013	DNA	SEQ	MSH2_00014	-	-	-
?/?	1	c.11A>C	-	p.Q4P	0.250	9.57	0.0471	Thompson et al., 2013	DNA	SEQ	MSH2_00016	-	-	-
?/?	1	c.11A>G	-	p.Q4R	0.184	6.79	0.0168	Thompson et al., 2013	DNA	SEQ	MSH2_00017	-	-	-
?/?	1	c.11A>T	-	p.Q4L	0.016	10.47	0.0219	Thompson et al., 2013	DNA	SEQ	MSH2_00015	-	-	-
?/?	1	c.12G>C	-	p.Q4H	0.049	2.96	0.0015	Thompson et al., 2013	DNA	SEQ	MSH2_00019	-	-	-
?/?	1	c.12G>T	-	p.Q4H	0.049	2.96	0.0015	Thompson et al., 2013	DNA	SEQ	MSH2_00018	-	-	-
?/?	1	c.13C>A	-	p.P5T	0.667	5.68	0.0820	Thompson et al., 2013	DNA	SEQ	MSH2_00021	-	-	-
?/?	1	c.13C>G	-	p.P5A	0.523	3.33	0.0142	Thompson et al., 2013	DNA	SEQ	MSH2_00022	-	-	-
?/?	1	c.13C>T	-	p.P5S	0.109	5.12	0.0065	Thompson et al., 2013	DNA	SEQ	MSH2_00020	-	-	-
?/?	1	c.14C>A	-	p.P5Q	0.296	8.28	0.0415	Thompson et al., 2013	DNA	SEQ	MSH2_00023	-	-	-
?/?	1	c.14C>G	-	p.P5R	0.296	30.61	0.4569	Thompson et al., 2013	DNA	SEQ	MSH2_00025	-	-	-
?/?	1	c.14C>T	-	p.P5L	0.831	5.89	0.1632	Thompson et al., 2013	DNA	SEQ	MSH2_00024	-	-	-
?/?	1	c.16A>C	-	p.K6Q	0.267	4.32	0.0087	Thompson et al., 2013	DNA	SEQ	MSH2_00026	-	-	-
?/?	1	c.16A>G	-	p.K6E	0.017	6.91	0.0087	Thompson et al., 2013	DNA	SEQ	MSH2_00027	-	-	-
?/?	1	c.17A>C	-	p.K6T	0.008	8.30	0.0126	Thompson et al., 2013	DNA	SEQ	MSH2_00028	-	-	-
?/?	1	c.17A>G	-	p.K6R	0.049	3.45	0.0021	Thompson et al., 2013	DNA	SEQ	MSH2_00030	-	-	-
?/?	1	c.17A>T	-	p.K6M	0.334	15.19	0.1678	Thompson et al., 2013	DNA	SEQ	MSH2_00029	-	-	-
?/?	1	c.18G>C	-	p.K6N	0.030	4.36	0.0032	Thompson et al., 2013	DNA	SEQ	MSH2_00031	-	-	-
?/?	1	c.18G>T	-	p.K6N	0.030	4.36	0.0032	Thompson et al., 2013	DNA	SEQ	MSH2_00032	-	-	-
?/?	1	c.19G>A	-	p.E7K	0.004	4.19	0.0026	Thompson et al., 2013	DNA	SEQ	MSH2_00033	-	-	-
?/?	1	c.19G>C	-	p.E7Q	0.002	2.36	0.0007	Thompson et al., 2013	DNA	SEQ	MSH2_00034	-	-	-
?/?	1	c.20A>C	-	p.E7A	0.006	3.79	0.0021	Thompson et al., 2013	DNA	SEQ	MSH2_00036	-	-	-
?/?	1	c.20A>G	-	p.E7G	0.018	5.03	0.0043	Thompson et al., 2013	DNA	SEQ	MSH2_00035	-	-	-
?/?	1	c.20A>T	-	p.E7V	0.031	17.17	0.0682	Thompson et al., 2013	DNA	SEQ	MSH2_00037	-	-	-
?/?	1	c.21G>C	-	p.E7D	0.001	5.18	0.0042	Thompson et al., 2013	DNA	SEQ	MSH2_00039	-	-	-
?/?	1	c.21G>T	-	p.E7D	0.001	5.18	0.0042	Thompson et al., 2013	DNA	SEQ	MSH2_00038	-	-	-
?/?	1	c.22A>C	-	p.T8P	0.001	9.75	0.0175	Thompson et al., 2013	DNA	SEQ	MSH2_00040	-	-	-
?/?	1	c.22A>G	-	p.T8A	0.003	4.43	0.0030	Thompson et al., 2013	DNA	SEQ	MSH2_00042	-	-	-
?/?	1	c.22A>T	-	p.T8S	0.001	2.86	0.0011	Thompson et al., 2013	DNA	SEQ	MSH2_00041	-	-	-
?/?	1	c.23C>A	-	p.T8K	0.012	2.34	0.0007	Thompson et al., 2013	DNA	SEQ	MSH2_00045	-	-	-
?/?	1	c.23C>G	-	p.T8R	0.001	3.10	0.0013	Thompson et al., 2013	DNA	SEQ	MSH2_00043	-	-	-
?/?	1	c.23C>T	-	p.T8M	0.042	3.01	0.0015	Thompson et al., 2013	DNA	SEQ	MSH2_00044	-	-	-
?/?	1	c.25C>A	-	p.L9M	0.807	4.89	0.1035	Thompson et al., 2013	DNA	SEQ	MSH2_00047	-	-	-
?/?	1	c.25C>G	-	p.L9V	0.558	7.47	0.0946	Thompson et al., 2013	DNA	SEQ	MSH2_00046	-	-	-
?/?	1	c.26T>A	-	p.L9Q	0.761	14.49	0.5276	Thompson et al., 2013	DNA	SEQ	MSH2_00050	-	-	-
?/?	1	c.26T>C	-	p.L9P	0.087	19.21	0.1071	Thompson et al., 2013	DNA	SEQ	MSH2_00049	-	-	-
?/?	1	c.26T>G	-	p.L9R	0.247	42.44	0.5891	Thompson et al., 2013	DNA	SEQ	MSH2_00048	-	-	-
?/?	1	c.28C>A	-	p.Q10K	0.001	23.34	0.1146	Thompson et al., 2013	DNA	SEQ	MSH2_00051	-	-	-
?/?	1	c.28C>G	-	p.Q10E	0.002	23.95	0.1211	Thompson et al., 2013	DNA	SEQ	MSH2_00052	-	-	-
?/?	1	c.29A>C	-	p.Q10P	0.002	9.80	0.0178	Thompson et al., 2013	DNA	SEQ	MSH2_00053	-	-	-
?/?	1	c.29A>G	-	p.Q10R	0.005	23.36	0.1165	Thompson et al., 2013	DNA	SEQ	MSH2_00055	-	-	-
?/?	1	c.29A>T	-	p.Q10L	0.024	4.50	0.0034	Thompson et al., 2013	DNA	SEQ	MSH2_00054	-	-	-
?/?	1	c.30G>C	-	p.Q10H	0.003	11.14	0.0238	Thompson et al., 2013	DNA	SEQ	MSH2_00057	-	-	-
?/?	1	c.30G>T	-	p.Q10H	0.003	11.14	0.0238	Thompson et al., 2013	DNA	SEQ	MSH2_00056	-	-	-
?/?	1	c.31T>A	-	p.L11M	0.038	2.60	0.0010	Thompson et al., 2013	DNA	SEQ	MSH2_00058	-	-	-
?/?	1	c.31T>G	-	p.L11V	0.038	3.73	0.0024	Thompson et al., 2013	DNA	SEQ	MSH2_00059	-	-	-
?/?	1	c.32T>C	-	p.L11S	0.570	6.84	0.0826	Thompson et al., 2013	DNA	SEQ	MSH2_00060	-	-	-
?/?	1	c.32T>G	-	p.L11W	0.933	5.60	0.2117	Thompson et al., 2013	DNA	SEQ	MSH2_00061	-	-	-
?/?	1	c.33G>C	-	p.L11F	0.570	2.66	0.0104	Thompson et al., 2013	DNA	SEQ	MSH2_00063	-	-	-
?/?	1	c.33G>T	-	p.L11F	0.570	2.66	0.0104	Thompson et al., 2013	DNA	SEQ	MSH2_00062	-	-	-
?/?	1	c.34G>A	-	p.E12K	0.002	18.43	0.0707	Thompson et al., 2013	DNA	SEQ	MSH2_00065	-	-	-
?/?	1	c.34G>C	-	p.E12Q	0.067	14.41	0.0542	Thompson et al., 2013	DNA	SEQ	MSH2_00064	-	-	-
?/?	1	c.35A>C	-	p.E12A	0.044	22.54	0.1256	Thompson et al., 2013	DNA	SEQ	MSH2_00067	-	-	-
?/?	1	c.35A>G	-	p.E12G	0.027	18.01	0.0743	Thompson et al., 2013	DNA	SEQ	MSH2_00068	-	-	-
?/?	1	c.35A>T	-	p.E12V	0.005	25.59	0.1396	Thompson et al., 2013	DNA	SEQ	MSH2_00066	-	-	-
?/?	1	c.36G>C	-	p.E12D	0.000	1.32	0.0002	Thompson et al., 2013	DNA	SEQ	MSH2_00070	-	-	-
?/?	1	c.36G>T	-	p.E12D	0.000	1.32	0.0002	Thompson et al., 2013	DNA	SEQ	MSH2_00069	-	-	-
?/?	1	c.37A>C	-	p.S13R	0.006	22.75	0.1109	Thompson et al., 2013	DNA	SEQ	MSH2_00071	-	-	-
?/?	1	c.37A>G	-	p.S13G	0.000	2.19	0.0006	Thompson et al., 2013	DNA	SEQ	MSH2_00072	-	-	-
?/?	1	c.37A>T	-	p.S13C	0.186	5.21	0.0094	Thompson et al., 2013	DNA	SEQ	MSH2_00073	-	-	-
?/?	1	c.38G>A	-	p.S13N	0.002	2.48	0.0008	Thompson et al., 2013	DNA	SEQ	MSH2_00075	-	-	-
?/?	1	c.38G>C	-	p.S13T	0.001	2.59	0.0009	Thompson et al., 2013	DNA	SEQ	MSH2_00074	-	-	-
?/?	1	c.38G>T	-	p.S13I	0.006	9.11	0.0154	Thompson et al., 2013	DNA	SEQ	MSH2_00076	-	-	-
?/?	1	c.39C>A	-	p.S13R	0.006	22.75	0.1109	Thompson et al., 2013	DNA	SEQ	MSH2_00078	-	-	-
?/?	1	c.39C>G	-	p.S13R	0.006	22.75	0.1109	Thompson et al., 2013	DNA	SEQ	MSH2_00077	-	-	-
?/?	1	c.40G>A	-	p.A14T	0.003	20.23	0.0862	Thompson et al., 2013	DNA	SEQ	MSH2_00081	-	-	-
?/?	1	c.40G>C	-	p.A14P	0.008	19.14	0.0783	Thompson et al., 2013	DNA	SEQ	MSH2_00079	-	-	-
?/?	1	c.40G>T	-	p.A14S	0.003	8.25	0.0122	Thompson et al., 2013	DNA	SEQ	MSH2_00080	-	-	-
?/?	1	c.41C>A	-	p.A14E	0.009	26.78	0.1546	Thompson et al., 2013	DNA	SEQ	MSH2_00083	-	-	-
?/?	1	c.41C>G	-	p.A14G	0.005	3.07	0.0013	Thompson et al., 2013	DNA	SEQ	MSH2_00082	-	-	-
?/?	1	c.41C>T	-	p.A14V	0.002	31.77	0.2074	Thompson et al., 2013	DNA	SEQ	MSH2_00084	-	-	-
?/?	1	c.43G>A	-	p.A15T	0.004	7.02	0.0085	Thompson et al., 2013	DNA	SEQ	MSH2_00087	-	-	-
?/?	1	c.43G>C	-	p.A15P	0.151	8.52	0.0243	Thompson et al., 2013	DNA	SEQ	MSH2_00085	-	-	-
?/?	1	c.43G>T	-	p.A15S	0.004	3.78	0.0021	Thompson et al., 2013	DNA	SEQ	MSH2_00086	-	-	-
?/?	1	c.44C>A	-	p.A15D	0.005	4.21	0.0027	Thompson et al., 2013	DNA	SEQ	MSH2_00088	-	-	-
?/?	1	c.44C>G	-	p.A15G	0.064	3.74	0.0026	Thompson et al., 2013	DNA	SEQ	MSH2_00090	-	-	-
?/?	1	c.44C>T	-	p.A15V	0.013	9.60	0.0178	Thompson et al., 2013	DNA	SEQ	MSH2_00089	-	-	-
?/?	1	c.46G>A	-	p.E16K	0.813	8.56	0.2968	Thompson et al., 2013	DNA	SEQ	MSH2_00091	-	-	-
?/?	1	c.46G>C	-	p.E16Q	0.382	4.37	0.0144	Thompson et al., 2013	DNA	SEQ	MSH2_00092	-	-	-
?/?	1	c.47A>C	-	p.E16A	0.382	22.63	0.3794	Thompson et al., 2013	DNA	SEQ	MSH2_00094	-	-	-
?/?	1	c.47A>G	-	p.E16G	0.879	21.77	0.8231	Thompson et al., 2013	DNA	SEQ	MSH2_00095	-	-	-
?/?	1	c.47A>T	-	p.E16V	0.857	35.00	0.9256	Thompson et al., 2013	DNA	SEQ	MSH2_00093	-	-	-
?/?	1	c.48G>C	-	p.E16D	0.268	8.80	0.0422	Thompson et al., 2013	DNA	SEQ	MSH2_00097	-	-	-
?/?	1	c.48G>T	-	p.E16D	0.268	8.80	0.0422	Thompson et al., 2013	DNA	SEQ	MSH2_00096	-	-	-
?/?	1	c.49G>A	-	p.V17I	0.008	1.99	0.0005	Thompson et al., 2013	DNA	SEQ	MSH2_00100	-	-	-
?/?	1	c.49G>C	-	p.V17L	0.009	2.98	0.0013	Thompson et al., 2013	DNA	SEQ	MSH2_00099	-	-	-
?/?	1	c.49G>T	-	p.V17F	0.157	3.30	0.0030	Thompson et al., 2013	DNA	SEQ	MSH2_00098	-	-	-

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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: [ MSH2_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. MSH2 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 MSH2 priors (MSH2_priors)