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 MLH1_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 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.1238C>A	-	p.T413K	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02701	-	-	-
?/?	12	c.1238C>G	-	p.T413R	-	0.01	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_02702	-	-	-
?/?	12	c.1238C>T	-	p.T413I	-	0.03	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02703	-	-	-
?/?	12	c.1240G>A	-	p.E414K	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02704	-	-	-
?/?	12	c.1240G>C	-	p.E414Q	-	0.03	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02705	-	-	-
?/?	12	c.1241A>C	-	p.E414A	-	0.017	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_02706	-	-	-
?/?	12	c.1241A>G	-	p.E414G	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02707	-	-	-
?/?	12	c.1241A>T	-	p.E414V	-	0.017	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_02708	-	-	-
?/?	12	c.1242G>C	-	p.E414D	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02709	-	-	-
?/?	12	c.1242G>T	-	p.E414D	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02710	-	-	-
?/?	12	c.1243G>A	-	p.D415N	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02711	-	-	-
?/?	12	c.1243G>C	-	p.D415H	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02712	-	-	-
?/?	12	c.1243G>T	-	p.D415Y	-	0.053	0.0037	Thompson et al., 2013	DNA	SEQ	MLH1_02713	-	-	-
?/?	12	c.1244A>C	-	p.D415A	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02714	-	-	-
?/?	12	c.1244A>G	-	p.D415G	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02715	-	-	-
?/?	12	c.1244A>T	-	p.D415V	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02716	-	-	-
?/?	12	c.1245T>A	-	p.D415E	-	0.012	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_02717	-	-	-
?/?	12	c.1245T>G	-	p.D415E	-	0.012	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_02718	-	-	-
?/?	12	c.1246A>C	-	p.K416Q	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02719	-	-	-
?/?	12	c.1246A>G	-	p.K416E	-	0.005	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02720	-	-	-
?/?	12	c.1247A>C	-	p.K416T	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02721	-	-	-
?/?	12	c.1247A>G	-	p.K416R	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02722	-	-	-
?/?	12	c.1247A>T	-	p.K416M	-	0.031	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02723	-	-	-
?/?	12	c.1248G>C	-	p.K416N	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02724	-	-	-
?/?	12	c.1248G>T	-	p.K416N	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02725	-	-	-
?/?	12	c.1249A>C	-	p.T417P	5.43	0.053	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_02726	-	-	-
?/?	12	c.1249A>G	-	p.T417A	3.32	0.002	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02727	-	-	-
?/?	12	c.1249A>T	-	p.T417S	2.34	0.031	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02728	-	-	-
?/?	12	c.1250C>A	-	p.T417K	4.24	0.031	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02729	-	-	-
?/?	12	c.1250C>G	-	p.T417R	4.57	0.076	0.0044	Thompson et al., 2013	DNA	SEQ	MLH1_02730	-	-	-
?/?	12	c.1250C>T	-	p.T417I	3.69	0.012	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02731	-	-	-
?/?	12	c.1252G>A	-	p.D418N	1.65	0.01	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02732	-	-	-
?/?	12	c.1252G>C	-	p.D418H	3.84	0.1	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_02733	-	-	-
?/?	12	c.1252G>T	-	p.D418Y	5.37	0.075	0.0063	Thompson et al., 2013	DNA	SEQ	MLH1_02734	-	-	-
?/?	12	c.1253A>C	-	p.D418A	2.72	0.001	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02735	-	-	-
?/?	12	c.1253A>G	-	p.D418G	2.02	-	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02736	-	-	-
?/?	12	c.1253A>T	-	p.D418V	6.39	0.01	0.0071	Thompson et al., 2013	DNA	SEQ	MLH1_02737	-	-	-
?/?	12	c.1254T>A	-	p.D418E	3.07	-	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_02738	-	-	-
?/?	12	c.1254T>G	-	p.D418E	3.07	-	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_02739	-	-	-
?/?	12	c.1255A>C	-	p.I419L	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02740	-	-	-
?/?	12	c.1255A>G	-	p.I419V	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02741	-	-	-
?/?	12	c.1255A>T	-	p.I419F	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02742	-	-	-
?/?	12	c.1256T>A	-	p.I419N	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02743	-	-	-
?/?	12	c.1256T>C	-	p.I419T	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02744	-	-	-
?/?	12	c.1256T>G	-	p.I419S	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02745	-	-	-
?/?	12	c.1257T>G	-	p.I419M	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02746	-	-	-
?/?	12	c.1258T>A	-	p.S420T	2.42	0.005	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02747	-	-	-
?/?	12	c.1258T>C	-	p.S420P	3.52	-	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02748	-	-	-
?/?	12	c.1258T>G	-	p.S420A	2.46	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02749	-	-	-
?/?	12	c.1259C>A	-	p.S420Y	3.35	0.012	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02750	-	-	-
?/?	12	c.1259C>G	-	p.S420C	1.88	0.055	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02751	-	-	-
?/?	12	c.1259C>T	-	p.S420F	2.75	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02752	-	-	-
?/?	12	c.1261A>C	-	p.S421R	3.52	0.007	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02753	-	-	-
?/?	12	c.1261A>G	-	p.S421G	2.79	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02754	-	-	-
?/?	12	c.1261A>T	-	p.S421C	6.07	0.088	0.0087	Thompson et al., 2013	DNA	SEQ	MLH1_02755	-	-	-
?/?	12	c.1262G>A	-	p.S421N	3.25	0.007	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02756	-	-	-
?/?	12	c.1262G>C	-	p.S421T	4.32	0.007	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02757	-	-	-
?/?	12	c.1262G>T	-	p.S421I	8.3	0.019	0.0132	Thompson et al., 2013	DNA	SEQ	MLH1_02758	-	-	-
?/?	12	c.1263T>A	-	p.S421R	3.52	0.007	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02759	-	-	-
?/?	12	c.1263T>G	-	p.S421R	3.52	0.007	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02760	-	-	-
?/?	12	c.1264G>A	-	p.G422S	1.01	-	0.0001	Thompson et al., 2013	DNA	SEQ	MLH1_02761	-	-	-
?/?	12	c.1264G>C	-	p.G422R	8.93	0.03	0.0163	Thompson et al., 2013	DNA	SEQ	MLH1_02762	-	-	-
?/?	12	c.1264G>T	-	p.G422C	3.98	0.091	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_02763	-	-	-
?/?	12	c.1265G>A	-	p.G422D	9.14	0.012	0.0159	Thompson et al., 2013	DNA	SEQ	MLH1_02764	-	-	-
?/?	12	c.1265G>C	-	p.G422A	4.34	0.002	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02765	-	-	-
?/?	12	c.1265G>T	-	p.G422V	6.47	0.001	0.007	Thompson et al., 2013	DNA	SEQ	MLH1_02766	-	-	-
?/?	12	c.1267A>G	-	p.R423G	3.09	-	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_02767	-	-	-
?/?	12	c.1267A>T	-	p.R423W	3.48	0.254	0.005	Thompson et al., 2013	DNA	SEQ	MLH1_02768	-	-	-
?/?	12	c.1268G>A	-	p.R423K	3.23	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02769	-	-	-
?/?	12	c.1268G>C	-	p.R423T	2.95	-	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02770	-	-	-
?/?	12	c.1268G>T	-	p.R423M	3.19	0.047	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02771	-	-	-
?/?	12	c.1269G>C	-	p.R423S	1.24	0.001	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02772	-	-	-
?/?	12	c.1269G>T	-	p.R423S	1.24	0.001	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02773	-	-	-
?/?	12	c.1270G>A	-	p.A424T	2.38	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02774	-	-	-
?/?	12	c.1270G>C	-	p.A424P	7.87	0.026	0.0121	Thompson et al., 2013	DNA	SEQ	MLH1_02775	-	-	-
?/?	12	c.1270G>T	-	p.A424S	2.15	-	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02776	-	-	-
?/?	12	c.1271C>A	-	p.A424D	4.36	0.001	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02777	-	-	-
?/?	12	c.1271C>G	-	p.A424G	3.41	0.01	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02778	-	-	-
?/?	12	c.1271C>T	-	p.A424V	1.92	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02779	-	-	-
?/?	12	c.1273A>G	-	p.R425G	1.81	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02780	-	-	-
?/?	12	c.1273A>T	-	p.R425W	2.96	0.084	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02781	-	-	-
?/?	12	c.1274G>A	-	p.R425K	1.71	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02782	-	-	-
?/?	12	c.1274G>C	-	p.R425T	2.71	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02783	-	-	-
?/?	12	c.1274G>T	-	p.R425M	1.76	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02784	-	-	-
?/?	12	c.1275G>C	-	p.R425S	1.66	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02785	-	-	-
?/?	12	c.1275G>T	-	p.R425S	1.66	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02786	-	-	-
?/?	12	c.1276C>A	-	p.Q426K	2.25	0.011	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02787	-	-	-
?/?	12	c.1276C>G	-	p.Q426E	2.31	0.002	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02788	-	-	-
?/?	12	c.1277A>C	-	p.Q426P	3.57	-	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02789	-	-	-
?/?	12	c.1277A>G	-	p.Q426R	2.81	0.002	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02790	-	-	-
?/?	12	c.1277A>T	-	p.Q426L	3.23	0.015	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02791	-	-	-
?/?	12	c.1278G>C	-	p.Q426H	1.66	0.093	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02792	-	-	-
?/?	12	c.1278G>T	-	p.Q426H	1.66	0.093	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02793	-	-	-
?/?	12	c.1279C>A	-	p.Q427K	2.47	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02794	-	-	-
?/?	12	c.1279C>G	-	p.Q427E	2.48	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02795	-	-	-
?/?	12	c.1280A>C	-	p.Q427P	3.66	-	0.0019	Thompson et al., 2013	DNA	SEQ	MLH1_02796	-	-	-
?/?	12	c.1280A>G	-	p.Q427R	3.01	0.001	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02797	-	-	-
?/?	12	c.1280A>T	-	p.Q427L	3.03	-	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02798	-	-	-
?/?	12	c.1281A>C	-	p.Q427H	1.63	0.047	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02799	-	-	-
?/?	12	c.1281A>T	-	p.Q427H	1.63	0.047	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02800	-	-	-

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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)