Full database search - 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 MLH1_priors database, matching your query. 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 MLH1_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 MLH1_priors full legend here.

4981 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

MAPP score

Custom PP2.1 score

MAPP/PP2 Prior P

Reference

Template

Technique

DB-ID

Disease

Reference

Remarks


?/?	12	c.1327A>G	-	p.K443E	5.39	-	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_02901	-	-	-
?/?	12	c.1328A>C	-	p.K443T	2.77	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02902	-	-	-
?/?	12	c.1328A>G	-	p.K443R	3.19	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02903	-	-	-
?/?	12	c.1328A>T	-	p.K443I	1.39	0.001	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02904	-	-	-
?/?	12	c.1329A>C	-	p.K443N	2.56	0.001	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02905	-	-	-
?/?	12	c.1329A>T	-	p.K443N	2.56	0.001	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02906	-	-	-
?/?	12	c.1330A>C	-	p.N444H	2.3	0.001	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02907	-	-	-
?/?	12	c.1330A>G	-	p.N444D	2.58	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02908	-	-	-
?/?	12	c.1330A>T	-	p.N444Y	3.12	0.018	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02909	-	-	-
?/?	12	c.1331A>C	-	p.N444T	3.05	-	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_02910	-	-	-
?/?	12	c.1331A>G	-	p.N444S	3.24	-	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02911	-	-	-
?/?	12	c.1331A>T	-	p.N444I	2.43	0.01	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02912	-	-	-
?/?	12	c.1332T>A	-	p.N444K	3.18	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02913	-	-	-
?/?	12	c.1332T>G	-	p.N444K	3.18	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02914	-	-	-
?/?	12	c.1333C>A	-	p.Q445K	3.76	0.006	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02915	-	-	-
?/?	12	c.1333C>G	-	p.Q445E	1.82	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02916	-	-	-
?/?	12	c.1334A>C	-	p.Q445P	7.61	0.026	0.0112	Thompson et al., 2013	DNA	SEQ	MLH1_02917	-	-	-
?/?	12	c.1334A>G	-	p.Q445R	4.71	0.001	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_02918	-	-	-
?/?	12	c.1334A>T	-	p.Q445L	4.6	0.009	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_02919	-	-	-
?/?	12	c.1335G>C	-	p.Q445H	5.01	0.066	0.0052	Thompson et al., 2013	DNA	SEQ	MLH1_02920	-	-	-
?/?	12	c.1335G>T	-	p.Q445H	5.01	0.066	0.0052	Thompson et al., 2013	DNA	SEQ	MLH1_02921	-	-	-
?/?	12	c.1336A>C	-	p.S446R	23.42	0.026	0.1267	Thompson et al., 2013	DNA	SEQ	MLH1_02922	-	-	-
?/?	12	c.1336A>G	-	p.S446G	1.77	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02923	-	-	-
?/?	12	c.1336A>T	-	p.S446C	2.43	0.082	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02924	-	-	-
?/?	12	c.1337G>A	-	p.S446N	2.48	0.001	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02925	-	-	-
?/?	12	c.1337G>C	-	p.S446T	2.22	-	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02926	-	-	-
?/?	12	c.1337G>T	-	p.S446I	3.43	0.012	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02927	-	-	-
?/?	12	c.1338C>A	-	p.S446R	23.42	0.026	0.1267	Thompson et al., 2013	DNA	SEQ	MLH1_02928	-	-	-
?/?	12	c.1338C>G	-	p.S446R	23.42	0.026	0.1267	Thompson et al., 2013	DNA	SEQ	MLH1_02929	-	-	-
?/?	12	c.1339T>A	-	p.L447M	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02930	-	-	-
?/?	12	c.1339T>G	-	p.L447V	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02931	-	-	-
?/?	12	c.1340T>C	-	p.L447S	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02932	-	-	-
?/?	12	c.1340T>G	-	p.L447W	-	0.082	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_02933	-	-	-
?/?	12	c.1341G>C	-	p.L447F	-	0.026	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02934	-	-	-
?/?	12	c.1341G>T	-	p.L447F	-	0.026	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02935	-	-	-
?/?	12	c.1342G>A	-	p.E448K	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02936	-	-	-
?/?	12	c.1342G>C	-	p.E448Q	-	0.007	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02937	-	-	-
?/?	12	c.1343A>C	-	p.E448A	-	0.018	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02938	-	-	-
?/?	12	c.1343A>G	-	p.E448G	-	0.018	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02939	-	-	-
?/?	12	c.1343A>T	-	p.E448V	-	0.021	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02940	-	-	-
?/?	12	c.1344G>C	-	p.E448D	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02941	-	-	-
?/?	12	c.1344G>T	-	p.E448D	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02942	-	-	-
?/?	12	c.1345G>A	-	p.G449R	2.37	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02943	-	-	-
?/?	12	c.1345G>C	-	p.G449R	2.37	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02944	-	-	-
?/?	12	c.1345G>T	-	p.G449W	3.56	0.129	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02945	-	-	-
?/?	12	c.1346G>A	-	p.G449E	3.52	-	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02946	-	-	-
?/?	12	c.1346G>C	-	p.G449A	3.69	0.006	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_02947	-	-	-
?/?	12	c.1346G>T	-	p.G449V	2.73	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02948	-	-	-
?/?	12	c.1348G>A	-	p.D450N	1.34	0.001	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02949	-	-	-
?/?	12	c.1348G>C	-	p.D450H	3.4	0.101	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02950	-	-	-
?/?	12	c.1348G>T	-	p.D450Y	5.15	0.047	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_02951	-	-	-
?/?	12	c.1349A>C	-	p.D450A	3.34	0.001	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02952	-	-	-
?/?	12	c.1349A>G	-	p.D450G	4.19	0.001	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_02953	-	-	-
?/?	12	c.1349A>T	-	p.D450V	6.01	-	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_02954	-	-	-
?/?	12	c.1350T>A	-	p.D450E	2.63	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02955	-	-	-
?/?	12	c.1350T>G	-	p.D450E	2.63	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02956	-	-	-
?/?	12	c.1351A>C	-	p.T451P	11.73	-	0.0263	Thompson et al., 2013	DNA	SEQ	MLH1_02957	-	-	-
?/?	12	c.1351A>G	-	p.T451A	7.7	-	0.0103	Thompson et al., 2013	DNA	SEQ	MLH1_02958	-	-	-
?/?	12	c.1351A>T	-	p.T451S	1.81	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02959	-	-	-
?/?	12	c.1352C>A	-	p.T451K	23.74	-	0.1181	Thompson et al., 2013	DNA	SEQ	MLH1_02960	-	-	-
?/?	12	c.1352C>G	-	p.T451R	23.69	0.001	0.118	Thompson et al., 2013	DNA	SEQ	MLH1_02961	-	-	-
?/?	12	c.1352C>T	-	p.T451I	8	0.004	0.0114	Thompson et al., 2013	DNA	SEQ	MLH1_02962	-	-	-
?/?	12	c.1354A>C	-	p.T452P	8.11	0.026	0.0129	Thompson et al., 2013	DNA	SEQ	MLH1_02963	-	-	-
?/?	12	c.1354A>G	-	p.T452A	5.35	0.001	0.0045	Thompson et al., 2013	DNA	SEQ	MLH1_02964	-	-	-
?/?	12	c.1354A>T	-	p.T452S	1.58	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02965	-	-	-
?/?	12	c.1355C>A	-	p.T452K	4.52	0.01	0.0032	Thompson et al., 2013	DNA	SEQ	MLH1_02966	-	-	-
?/?	12	c.1355C>G	-	p.T452R	5.21	0.018	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_02967	-	-	-
?/?	12	c.1355C>T	-	p.T452I	2.87	0.002	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02968	-	-	-
?/?	12	c.1357A>C	-	p.K453Q	1.89	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02969	-	-	-
?/?	12	c.1357A>G	-	p.K453E	2.62	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02970	-	-	-
?/?	12	c.1358A>C	-	p.K453T	2.47	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02971	-	-	-
?/?	12	c.1358A>G	-	p.K453R	3.16	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02972	-	-	-
?/?	12	c.1358A>T	-	p.K453M	2.58	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02973	-	-	-
?/?	12	c.1359G>C	-	p.K453N	1.59	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02974	-	-	-
?/?	12	c.1359G>T	-	p.K453N	1.59	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02975	-	-	-
?/?	12	c.1360G>A	-	p.G454R	2.35	0.001	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02976	-	-	-
?/?	12	c.1360G>C	-	p.G454R	2.35	0.001	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02977	-	-	-
?/?	12	c.1360G>T	-	p.G454W	3.51	0.201	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_02978	-	-	-
?/?	12	c.1361G>A	-	p.G454E	2.35	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02979	-	-	-
?/?	12	c.1361G>C	-	p.G454A	2.88	0.002	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02980	-	-	-
?/?	12	c.1361G>T	-	p.G454V	2.17	0.007	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02981	-	-	-
?/?	12	c.1363A>C	-	p.T455P	1.83	0.026	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02982	-	-	-
?/?	12	c.1363A>G	-	p.T455A	3.95	0.001	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_02983	-	-	-
?/?	12	c.1363A>T	-	p.T455S	1.75	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02984	-	-	-
?/?	12	c.1364C>A	-	p.T455N	2.24	0.002	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02985	-	-	-
?/?	12	c.1364C>G	-	p.T455S	1.75	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02986	-	-	-
?/?	12	c.1364C>T	-	p.T455I	6.27	0.004	0.0066	Thompson et al., 2013	DNA	SEQ	MLH1_02987	-	-	-
?/?	12	c.1366T>A	-	p.S456T	2.89	0.001	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02988	-	-	-
?/?	12	c.1366T>C	-	p.S456P	3.77	-	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02989	-	-	-
?/?	12	c.1366T>G	-	p.S456A	2.69	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02990	-	-	-
?/?	12	c.1367C>T	-	p.S456L	2.14	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02991	-	-	-
?/?	12	c.1369G>A	-	p.E457K	1.81	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02992	-	-	-
?/?	12	c.1369G>C	-	p.E457Q	1.58	0.002	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02993	-	-	-
?/?	12	c.1370A>C	-	p.E457A	2.72	0.018	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02994	-	-	-
?/?	12	c.1370A>G	-	p.E457G	2.8	0.018	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02995	-	-	-
?/?	12	c.1370A>T	-	p.E457V	3.42	0.001	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02996	-	-	-
?/?	12	c.1371A>C	-	p.E457D	2.13	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02997	-	-	-
?/?	12	c.1371A>T	-	p.E457D	2.13	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02998	-	-	-
?/?	12	c.1372A>C	-	p.M458L	4.18	-	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_02999	-	-	-
?/?	12	c.1372A>G	-	p.M458V	4.72	-	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_03000	-	-	-

2901 - 3000
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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: [ MLH1_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. MAPP score: output score from MAPP Custom PP2.1 score: Custom PolyPhen 2.1 score 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. MLH1 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 MLH1 priors (MLH1_priors)