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


?/?	9	c.691A>T	-	p.I231F	10.34	0.004	0.0202	Thompson et al., 2013	DNA	SEQ	MLH1_01501	-	-	-
?/?	9	c.692T>A	-	p.I231N	15.37	0.41	0.2226	Thompson et al., 2013	DNA	SEQ	MLH1_01502	-	-	-
?/?	9	c.692T>C	-	p.I231T	13.55	0.025	0.04	Thompson et al., 2013	DNA	SEQ	MLH1_01503	-	-	-
?/?	9	c.692T>G	-	p.I231S	13.48	0.143	0.0638	Thompson et al., 2013	DNA	SEQ	MLH1_01504	-	-	-
?/?	9	c.693T>G	-	p.I231M	16.34	0.109	0.0836	Thompson et al., 2013	DNA	SEQ	MLH1_01505	-	-	-
?/?	9	c.694G>A	-	p.G232R	4.15	0.101	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_01506	-	-	-
?/?	9	c.694G>C	-	p.G232R	4.15	0.101	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_01507	-	-	-
?/?	9	c.695G>A	-	p.G232E	3.01	0.002	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_01508	-	-	-
?/?	9	c.695G>C	-	p.G232A	4.16	0.008	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_01509	-	-	-
?/?	9	c.695G>T	-	p.G232V	10.66	0.071	0.0286	Thompson et al., 2013	DNA	SEQ	MLH1_01510	-	-	-
?/?	9	c.697T>A	-	p.C233S	3.33	0.176	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_01511	-	-	-
?/?	9	c.697T>C	-	p.C233R	11.64	0.176	0.0532	Thompson et al., 2013	DNA	SEQ	MLH1_01512	-	-	-
?/?	9	c.697T>G	-	p.C233G	6.7	0.514	0.0634	Thompson et al., 2013	DNA	SEQ	MLH1_01513	-	-	-
?/?	9	c.698G>A	-	p.C233Y	3.18	0.023	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_01514	-	-	-
?/?	9	c.698G>C	-	p.C233S	3.33	0.176	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_01515	-	-	-
?/?	9	c.698G>T	-	p.C233F	4.81	0.023	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_01516	-	-	-
?/?	9	c.699T>G	-	p.C233W	6.71	0.754	0.1589	Thompson et al., 2013	DNA	SEQ	MLH1_01517	-	-	-
?/?	9	c.700G>A	-	p.E234K	5.63	0.03	0.0058	Thompson et al., 2013	DNA	SEQ	MLH1_01518	-	-	-
?/?	9	c.700G>C	-	p.E234Q	4.32	0.1	0.0043	Thompson et al., 2013	DNA	SEQ	MLH1_01519	-	-	-
?/?	9	c.701A>C	-	p.E234A	10.53	0.45	0.1258	Thompson et al., 2013	DNA	SEQ	MLH1_01520	-	-	-
?/?	9	c.701A>G	-	p.E234G	6.61	0.33	0.0291	Thompson et al., 2013	DNA	SEQ	MLH1_01521	-	-	-
?/?	9	c.701A>T	-	p.E234V	14.06	0.571	0.3171	Thompson et al., 2013	DNA	SEQ	MLH1_01522	-	-	-
?/?	9	c.702G>C	-	p.E234D	1.96	0.017	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_01523	-	-	-
?/?	9	c.702G>T	-	p.E234D	1.96	0.017	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_01524	-	-	-
?/?	9	c.703G>A	-	p.D235N	4.03	0.161	0.0047	Thompson et al., 2013	DNA	SEQ	MLH1_01525	-	-	-
?/?	9	c.703G>C	-	p.D235H	7.54	0.923	0.3358	Thompson et al., 2013	DNA	SEQ	MLH1_01526	-	-	-
?/?	9	c.703G>T	-	p.D235Y	12	0.923	0.5921	Thompson et al., 2013	DNA	SEQ	MLH1_01527	-	-	-
?/?	9	c.704A>C	-	p.D235A	19.75	0.687	0.6221	Thompson et al., 2013	DNA	SEQ	MLH1_01528	-	-	-
?/?	9	c.704A>G	-	p.D235G	11.5	0.687	0.3254	Thompson et al., 2013	DNA	SEQ	MLH1_01529	-	-	-
?/?	9	c.704A>T	-	p.D235V	29.7	0.847	0.8915	Thompson et al., 2013	DNA	SEQ	MLH1_01530	-	-	-
?/?	9	c.705T>A	-	p.D235E	4.19	0.142	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_01531	-	-	-
?/?	9	c.705T>G	-	p.D235E	4.19	0.142	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_01532	-	-	-
?/?	9	c.706A>C	-	p.K236Q	2.07	0.007	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_01533	-	-	-
?/?	9	c.706A>G	-	p.K236E	3.27	0.002	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_01534	-	-	-
?/?	9	c.707A>C	-	p.K236T	2.75	0.004	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_01535	-	-	-
?/?	9	c.707A>G	-	p.K236R	3.07	0.055	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_01536	-	-	-
?/?	9	c.707A>T	-	p.K236I	5.47	0.065	0.0063	Thompson et al., 2013	DNA	SEQ	MLH1_01537	-	-	-
?/?	9	c.708A>C	-	p.K236N	1.5	0.013	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_01538	-	-	-
?/?	9	c.708A>T	-	p.K236N	1.5	0.013	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_01539	-	-	-
?/?	9	c.709A>C	-	p.T237P	7.56	0.15	0.0185	Thompson et al., 2013	DNA	SEQ	MLH1_01540	-	-	-
?/?	9	c.709A>G	-	p.T237A	4.41	0.054	0.0037	Thompson et al., 2013	DNA	SEQ	MLH1_01541	-	-	-
?/?	9	c.709A>T	-	p.T237S	2.11	0.013	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_01542	-	-	-
?/?	9	c.710C>A	-	p.T237N	2.36	0.011	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_01543	-	-	-
?/?	9	c.710C>G	-	p.T237S	2.11	0.013	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_01544	-	-	-
?/?	9	c.710C>T	-	p.T237I	4.96	0.021	0.0042	Thompson et al., 2013	DNA	SEQ	MLH1_01545	-	-	-
?/?	9	c.712C>A	-	p.L238I	9.42	0.776	0.3094	Thompson et al., 2013	DNA	SEQ	MLH1_01546	-	-	-
?/?	9	c.712C>G	-	p.L238V	15.93	0.776	0.5962	Thompson et al., 2013	DNA	SEQ	MLH1_01547	-	-	-
?/?	9	c.713T>A	-	p.L238Q	13.44	0.97	0.6964	Thompson et al., 2013	DNA	SEQ	MLH1_01548	-	-	-
?/?	9	c.713T>C	-	p.L238P	21.6	0.97	0.8707	Thompson et al., 2013	DNA	SEQ	MLH1_01549	-	-	-
?/?	9	c.713T>G	-	p.L238R	32.47	0.961	0.9424	Thompson et al., 2013	DNA	SEQ	MLH1_01550	-	-	-
?/?	9	c.715G>A	-	p.A239T	4.09	0.071	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_01551	-	-	-
?/?	9	c.715G>C	-	p.A239P	5.65	0.234	0.0138	Thompson et al., 2013	DNA	SEQ	MLH1_01552	-	-	-
?/?	9	c.715G>T	-	p.A239S	2.42	0.007	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_01553	-	-	-
?/?	9	c.716C>A	-	p.A239D	26.71	0.101	0.212	Thompson et al., 2013	DNA	SEQ	MLH1_01554	-	-	-
?/?	9	c.716C>G	-	p.A239G	2.41	0.001	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_01555	-	-	-
?/?	9	c.716C>T	-	p.A239V	4.33	0.143	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_01556	-	-	-
?/?	9	c.718T>A	-	p.F240I	6.93	0.576	0.0869	Thompson et al., 2013	DNA	SEQ	MLH1_01557	-	-	-
?/?	9	c.718T>C	-	p.F240L	5.8	0.275	0.0173	Thompson et al., 2013	DNA	SEQ	MLH1_01558	-	-	-
?/?	9	c.718T>G	-	p.F240V	11.18	0.4	0.1175	Thompson et al., 2013	DNA	SEQ	MLH1_01559	-	-	-
?/?	9	c.719T>A	-	p.F240Y	12.63	0.942	0.6387	Thompson et al., 2013	DNA	SEQ	MLH1_01560	-	-	-
?/?	9	c.719T>C	-	p.F240S	11.84	0.957	0.6194	Thompson et al., 2013	DNA	SEQ	MLH1_01561	-	-	-
?/?	9	c.719T>G	-	p.F240C	10.31	0.967	0.5537	Thompson et al., 2013	DNA	SEQ	MLH1_01562	-	-	-
?/?	9	c.720C>A	-	p.F240L	5.8	0.275	0.0173	Thompson et al., 2013	DNA	SEQ	MLH1_01563	-	-	-
?/?	9	c.720C>G	-	p.F240L	5.8	0.275	0.0173	Thompson et al., 2013	DNA	SEQ	MLH1_01564	-	-	-
?/?	9	c.721A>C	-	p.K241Q	3.07	0.137	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_01565	-	-	-
?/?	9	c.721A>G	-	p.K241E	6.74	0.06	0.0098	Thompson et al., 2013	DNA	SEQ	MLH1_01566	-	-	-
?/?	9	c.722A>C	-	p.K241T	4.86	0.1	0.0056	Thompson et al., 2013	DNA	SEQ	MLH1_01567	-	-	-
?/?	9	c.722A>G	-	p.K241R	1.89	0.052	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_01568	-	-	-
?/?	9	c.722A>T	-	p.K241I	8.29	0.837	0.303	Thompson et al., 2013	DNA	SEQ	MLH1_01569	-	-	-
?/?	9	c.723A>C	-	p.K241N	3.02	0.571	0.0139	Thompson et al., 2013	DNA	SEQ	MLH1_01570	-	-	-
?/?	9	c.723A>T	-	p.K241N	3.02	0.571	0.0139	Thompson et al., 2013	DNA	SEQ	MLH1_01571	-	-	-
?/?	9	c.724A>C	-	p.M242L	3.68	0.009	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_01572	-	-	-
?/?	9	c.724A>G	-	p.M242V	7.81	0.004	0.0108	Thompson et al., 2013	DNA	SEQ	MLH1_01573	-	-	-
?/?	9	c.724A>T	-	p.M242L	3.68	0.009	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_01574	-	-	-
?/?	9	c.725T>A	-	p.M242K	28.21	0.416	0.5382	Thompson et al., 2013	DNA	SEQ	MLH1_01575	-	-	-
?/?	9	c.725T>C	-	p.M242T	6.58	0.03	0.0082	Thompson et al., 2013	DNA	SEQ	MLH1_01576	-	-	-
?/?	9	c.725T>G	-	p.M242R	32.48	0.684	0.8341	Thompson et al., 2013	DNA	SEQ	MLH1_01577	-	-	-
?/?	9	c.726G>A	-	p.M242I	5.02	0.095	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_01578	-	-	-
?/?	9	c.726G>C	-	p.M242I	5.02	0.095	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_01579	-	-	-
?/?	9	c.726G>T	-	p.M242I	5.02	0.095	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_01580	-	-	-
?/?	9	c.727A>C	-	p.N243H	2.37	0.011	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_01581	-	-	-
?/?	9	c.727A>G	-	p.N243D	4.05	0.037	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_01582	-	-	-
?/?	9	c.727A>T	-	p.N243Y	4.59	0.324	0.0126	Thompson et al., 2013	DNA	SEQ	MLH1_01583	-	-	-
?/?	9	c.728A>C	-	p.N243T	4.42	0.063	0.0038	Thompson et al., 2013	DNA	SEQ	MLH1_01584	-	-	-
?/?	9	c.728A>G	-	p.N243S	3.16	0.006	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_01585	-	-	-
?/?	9	c.728A>T	-	p.N243I	4.37	0.443	0.0186	Thompson et al., 2013	DNA	SEQ	MLH1_01586	-	-	-
?/?	9	c.729T>A	-	p.N243K	1.2	0.003	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_01587	-	-	-
?/?	9	c.729T>G	-	p.N243K	1.2	0.003	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_01588	-	-	-
?/?	9	c.730G>A	-	p.G244S	7.5	0.973	0.382	Thompson et al., 2013	DNA	SEQ	MLH1_01589	-	-	-
?/?	9	c.730G>C	-	p.G244R	36.52	0.995	0.9611	Thompson et al., 2013	DNA	SEQ	MLH1_01590	-	-	-
?/?	9	c.730G>T	-	p.G244C	19.13	0.75	0.6669	Thompson et al., 2013	DNA	SEQ	MLH1_01591	-	-	-
?/?	9	c.731G>A	-	p.G244D	35.86	0.993	0.9591	Thompson et al., 2013	DNA	SEQ	MLH1_01592	-	-	-
?/?	9	c.731G>C	-	p.G244A	22.05	0.743	0.7285	Thompson et al., 2013	DNA	SEQ	MLH1_01593	-	-	-
?/?	9	c.731G>T	-	p.G244V	29.36	0.988	0.9359	Thompson et al., 2013	DNA	SEQ	MLH1_01594	-	-	-
?/?	9	c.733T>A	-	p.Y245N	4.81	0.578	0.0402	Thompson et al., 2013	DNA	SEQ	MLH1_01595	-	-	-
?/?	9	c.733T>C	-	p.Y245H	12.17	0.033	0.0327	Thompson et al., 2013	DNA	SEQ	MLH1_01596	-	-	-
?/?	9	c.733T>G	-	p.Y245D	24.88	0.698	0.7445	Thompson et al., 2013	DNA	SEQ	MLH1_01597	-	-	-
?/?	9	c.734A>C	-	p.Y245S	3.51	0.311	0.0065	Thompson et al., 2013	DNA	SEQ	MLH1_01598	-	-	-
?/?	9	c.734A>G	-	p.Y245C	3.46	0.033	0.0019	Thompson et al., 2013	DNA	SEQ	MLH1_01599	-	-	-
?/?	9	c.734A>T	-	p.Y245F	3.91	0.019	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_01600	-	-	-

1501 - 1600
[<<] [<-] ... 11 12 13 14 15 16 17 18 19 20 21 ... [->] [>>]

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)