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.1372A>T	-	p.M458L	4.18	-	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_03001	-	-	-
?/?	12	c.1373T>A	-	p.M458K	2.38	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_03002	-	-	-
?/?	12	c.1373T>C	-	p.M458T	2.39	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_03003	-	-	-
?/?	12	c.1373T>G	-	p.M458R	3.22	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03004	-	-	-
?/?	12	c.1374G>A	-	p.M458I	4.6	-	0.0032	Thompson et al., 2013	DNA	SEQ	MLH1_03005	-	-	-
?/?	12	c.1374G>C	-	p.M458I	4.6	-	0.0032	Thompson et al., 2013	DNA	SEQ	MLH1_03006	-	-	-
?/?	12	c.1374G>T	-	p.M458I	4.6	-	0.0032	Thompson et al., 2013	DNA	SEQ	MLH1_03007	-	-	-
?/?	12	c.1375T>A	-	p.S459T	2.14	0.004	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03008	-	-	-
?/?	12	c.1375T>C	-	p.S459P	3.91	-	0.0022	Thompson et al., 2013	DNA	SEQ	MLH1_03009	-	-	-
?/?	12	c.1375T>G	-	p.S459A	4.3	-	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_03010	-	-	-
?/?	12	c.1376C>T	-	p.S459L	6.27	0.007	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_03011	-	-	-
?/?	12	c.1378G>A	-	p.E460K	2.14	0.015	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03012	-	-	-
?/?	12	c.1378G>C	-	p.E460Q	1.89	0.002	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_03013	-	-	-
?/?	12	c.1379A>C	-	p.E460A	5.56	0.001	0.005	Thompson et al., 2013	DNA	SEQ	MLH1_03014	-	-	-
?/?	12	c.1379A>G	-	p.E460G	3.66	-	0.0019	Thompson et al., 2013	DNA	SEQ	MLH1_03015	-	-	-
?/?	12	c.1379A>T	-	p.E460V	7.55	-	0.0098	Thompson et al., 2013	DNA	SEQ	MLH1_03016	-	-	-
?/?	12	c.1380G>C	-	p.E460D	2.2	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03017	-	-	-
?/?	12	c.1380G>T	-	p.E460D	2.2	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03018	-	-	-
?/?	12	c.1381A>C	-	p.K461Q	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03019	-	-	-
?/?	12	c.1381A>G	-	p.K461E	-	0.015	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03020	-	-	-
?/?	12	c.1382A>C	-	p.K461T	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03021	-	-	-
?/?	12	c.1382A>G	-	p.K461R	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03022	-	-	-
?/?	12	c.1382A>T	-	p.K461M	-	0.07	0.0043	Thompson et al., 2013	DNA	SEQ	MLH1_03023	-	-	-
?/?	12	c.1383G>C	-	p.K461N	-	0.015	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03024	-	-	-
?/?	12	c.1383G>T	-	p.K461N	-	0.015	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03025	-	-	-
?/?	12	c.1384A>G	-	p.R462G	2.66	0.02	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_03026	-	-	-
?/?	12	c.1385G>A	-	p.R462K	2.48	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_03027	-	-	-
?/?	12	c.1385G>C	-	p.R462T	3.99	-	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_03028	-	-	-
?/?	12	c.1385G>T	-	p.R462I	5.53	0.007	0.005	Thompson et al., 2013	DNA	SEQ	MLH1_03029	-	-	-
?/?	12	c.1386A>C	-	p.R462S	1.47	0.013	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03030	-	-	-
?/?	12	c.1386A>T	-	p.R462S	1.47	0.013	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03031	-	-	-
?/?	12	c.1387G>A	-	p.G463R	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03032	-	-	-
?/?	12	c.1387G>C	-	p.G463R	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03033	-	-	-
?/?	12	c.1388G>A	-	p.G463E	-	0.015	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03034	-	-	-
?/?	12	c.1388G>C	-	p.G463A	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03035	-	-	-
?/?	12	c.1388G>T	-	p.G463V	-	0.011	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_03036	-	-	-
?/?	12	c.1390C>A	-	p.P464T	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03037	-	-	-
?/?	12	c.1390C>G	-	p.P464A	-	0.009	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_03038	-	-	-
?/?	12	c.1390C>T	-	p.P464S	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03039	-	-	-
?/?	12	c.1391C>A	-	p.P464H	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03040	-	-	-
?/?	12	c.1391C>G	-	p.P464R	-	0.015	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03041	-	-	-
?/?	12	c.1391C>T	-	p.P464L	-	0.015	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03042	-	-	-
?/?	12	c.1393A>C	-	p.T465P	1.78	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_03043	-	-	-
?/?	12	c.1393A>G	-	p.T465A	3.17	0.001	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03044	-	-	-
?/?	12	c.1393A>T	-	p.T465S	3.19	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03045	-	-	-
?/?	12	c.1394C>A	-	p.T465N	1.79	0.01	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_03046	-	-	-
?/?	12	c.1394C>G	-	p.T465S	3.19	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03047	-	-	-
?/?	12	c.1394C>T	-	p.T465I	3.7	0.001	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_03048	-	-	-
?/?	12	c.1396T>A	-	p.S466T	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03049	-	-	-
?/?	12	c.1396T>C	-	p.S466P	-	0.047	0.0035	Thompson et al., 2013	DNA	SEQ	MLH1_03050	-	-	-
?/?	12	c.1396T>G	-	p.S466A	-	0.016	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03051	-	-	-
?/?	12	c.1397C>A	-	p.S466Y	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03052	-	-	-
?/?	12	c.1397C>G	-	p.S466C	-	0.195	0.0122	Thompson et al., 2013	DNA	SEQ	MLH1_03053	-	-	-
?/?	12	c.1397C>T	-	p.S466F	-	0.068	0.0042	Thompson et al., 2013	DNA	SEQ	MLH1_03054	-	-	-
?/?	12	c.1399A>C	-	p.S467R	4.42	0.079	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_03055	-	-	-
?/?	12	c.1399A>G	-	p.S467G	4.3	0.046	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_03056	-	-	-
?/?	12	c.1399A>T	-	p.S467C	7.29	0.295	0.0313	Thompson et al., 2013	DNA	SEQ	MLH1_03057	-	-	-
?/?	12	c.1400G>A	-	p.S467N	2.28	0.079	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_03058	-	-	-
?/?	12	c.1400G>C	-	p.S467T	4.97	0.032	0.0044	Thompson et al., 2013	DNA	SEQ	MLH1_03059	-	-	-
?/?	12	c.1400G>T	-	p.S467I	9.7	0.005	0.0176	Thompson et al., 2013	DNA	SEQ	MLH1_03060	-	-	-
?/?	12	c.1401C>A	-	p.S467R	4.42	0.079	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_03061	-	-	-
?/?	12	c.1401C>G	-	p.S467R	4.42	0.079	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_03062	-	-	-
?/?	12	c.1402A>C	-	p.N468H	1.87	0.048	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03063	-	-	-
?/?	12	c.1402A>G	-	p.N468D	4.16	0.01	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03064	-	-	-
?/?	12	c.1402A>T	-	p.N468Y	3.08	0.018	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03065	-	-	-
?/?	12	c.1403A>C	-	p.N468T	3.18	0.002	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03066	-	-	-
?/?	12	c.1403A>G	-	p.N468S	2.95	-	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_03067	-	-	-
?/?	12	c.1403A>T	-	p.N468I	2.21	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03068	-	-	-
?/?	12	c.1404C>A	-	p.N468K	2.81	-	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_03069	-	-	-
?/?	12	c.1404C>G	-	p.N468K	2.81	-	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_03070	-	-	-
?/?	12	c.1405C>A	-	p.P469T	2.9	0.006	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_03071	-	-	-
?/?	12	c.1405C>G	-	p.P469A	3.81	0.002	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_03072	-	-	-
?/?	12	c.1405C>T	-	p.P469S	3.82	-	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_03073	-	-	-
?/?	12	c.1406C>A	-	p.P469H	2.97	0.093	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_03074	-	-	-
?/?	12	c.1406C>G	-	p.P469R	5.96	0.027	0.0065	Thompson et al., 2013	DNA	SEQ	MLH1_03075	-	-	-
?/?	12	c.1406C>T	-	p.P469L	5.46	0.015	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_03076	-	-	-
?/?	12	c.1408A>G	-	p.R470G	10.39	0.305	0.07	Thompson et al., 2013	DNA	SEQ	MLH1_03077	-	-	-
?/?	12	c.1409G>A	-	p.R470K	1.28	0.009	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_03078	-	-	-
?/?	12	c.1409G>C	-	p.R470T	7.87	0.121	0.018	Thompson et al., 2013	DNA	SEQ	MLH1_03079	-	-	-
?/?	12	c.1409G>T	-	p.R470I	22.46	0.03	0.1183	Thompson et al., 2013	DNA	SEQ	MLH1_03080	-	-	-
?/?	13	c.1410A>C	-	p.R470S	7.86	0.016	0.0115	Thompson et al., 2013	DNA	SEQ	MLH1_03081	-	-	-
?/?	13	c.1410A>T	-	p.R470S	7.86	0.016	0.0115	Thompson et al., 2013	DNA	SEQ	MLH1_03082	-	-	-
?/?	13	c.1411A>C	-	p.K471Q	14.08	0.303	0.1295	Thompson et al., 2013	DNA	SEQ	MLH1_03083	-	-	-
?/?	13	c.1411A>G	-	p.K471E	23.7	0.01	0.1222	Thompson et al., 2013	DNA	SEQ	MLH1_03084	-	-	-
?/?	13	c.1412A>C	-	p.K471T	27.99	0.018	0.1736	Thompson et al., 2013	DNA	SEQ	MLH1_03085	-	-	-
?/?	13	c.1412A>G	-	p.K471R	7.31	0.037	0.0107	Thompson et al., 2013	DNA	SEQ	MLH1_03086	-	-	-
?/?	13	c.1412A>T	-	p.K471M	17.24	0.59	0.4444	Thompson et al., 2013	DNA	SEQ	MLH1_03087	-	-	-
?/?	13	c.1413G>C	-	p.K471N	14.55	0.419	0.208	Thompson et al., 2013	DNA	SEQ	MLH1_03088	-	-	-
?/?	13	c.1413G>T	-	p.K471N	14.55	0.419	0.208	Thompson et al., 2013	DNA	SEQ	MLH1_03089	-	-	-
?/?	13	c.1414A>G	-	p.R472G	25.9	0.668	0.7375	Thompson et al., 2013	DNA	SEQ	MLH1_03090	-	-	-
?/?	13	c.1415G>A	-	p.R472K	6.07	0.195	0.0137	Thompson et al., 2013	DNA	SEQ	MLH1_03091	-	-	-
?/?	13	c.1415G>C	-	p.R472T	26.48	0.299	0.3802	Thompson et al., 2013	DNA	SEQ	MLH1_03092	-	-	-
?/?	13	c.1415G>T	-	p.R472I	26.94	0.052	0.1821	Thompson et al., 2013	DNA	SEQ	MLH1_03093	-	-	-
?/?	13	c.1416A>C	-	p.R472S	21.57	0.083	0.133	Thompson et al., 2013	DNA	SEQ	MLH1_03094	-	-	-
?/?	13	c.1416A>T	-	p.R472S	21.57	0.083	0.133	Thompson et al., 2013	DNA	SEQ	MLH1_03095	-	-	-
?/?	13	c.1417C>A	-	p.H473N	5.75	0.01	0.0056	Thompson et al., 2013	DNA	SEQ	MLH1_03096	-	-	-
?/?	13	c.1417C>G	-	p.H473D	15.07	-	0.0456	Thompson et al., 2013	DNA	SEQ	MLH1_03097	-	-	-
?/?	13	c.1417C>T	-	p.H473Y	5.62	0.049	0.0062	Thompson et al., 2013	DNA	SEQ	MLH1_03098	-	-	-
?/?	13	c.1418A>C	-	p.H473P	0.94	-	0.0001	Thompson et al., 2013	DNA	SEQ	MLH1_03099	-	-	-
?/?	13	c.1418A>G	-	p.H473R	16.8	0.01	0.0599	Thompson et al., 2013	DNA	SEQ	MLH1_03100	-	-	-

3001 - 3100
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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)