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


?/?	4	c.368A>C	-	p.K123T	8.15	0.681	0.1771	Thompson et al., 2013	DNA	SEQ	MLH1_00318	-	-	-
?/?	4	c.368A>G	-	p.K123R	1.87	0.681	0.0076	Thompson et al., 2013	DNA	SEQ	MLH1_00319	-	-	-
?/?	4	c.368A>T	-	p.K123M	3.89	0.965	0.1186	Thompson et al., 2013	DNA	SEQ	MLH1_00320	-	-	-
?/?	4	c.369G>C	-	p.K123N	4.05	0.938	0.1162	Thompson et al., 2013	DNA	SEQ	MLH1_00321	-	-	-
?/?	4	c.369G>T	-	p.K123N	4.05	0.938	0.1162	Thompson et al., 2013	DNA	SEQ	MLH1_00322	-	-	-
?/?	4	c.370T>A	-	p.C124S	14.04	0.999	0.7413	Thompson et al., 2013	DNA	SEQ	MLH1_00323	-	-	-
?/?	4	c.370T>C	-	p.C124R	34.86	1	0.9578	Thompson et al., 2013	DNA	SEQ	MLH1_00324	-	-	-
?/?	4	c.370T>G	-	p.C124G	15.41	0.999	0.7798	Thompson et al., 2013	DNA	SEQ	MLH1_00325	-	-	-
?/?	4	c.371G>A	-	p.C124Y	21.23	1	0.8804	Thompson et al., 2013	DNA	SEQ	MLH1_00326	-	-	-
?/?	4	c.371G>C	-	p.C124S	14.04	0.999	0.7413	Thompson et al., 2013	DNA	SEQ	MLH1_00327	-	-	-
?/?	4	c.371G>T	-	p.C124F	21.32	1	0.8814	Thompson et al., 2013	DNA	SEQ	MLH1_00328	-	-	-
?/?	4	c.372T>G	-	p.C124W	32.95	1	0.9523	Thompson et al., 2013	DNA	SEQ	MLH1_00329	-	-	-
?/?	4	c.373G>A	-	p.A125T	22.75	0.998	0.8951	Thompson et al., 2013	DNA	SEQ	MLH1_00330	-	-	-
?/?	4	c.373G>C	-	p.A125P	18.79	0.999	0.8474	Thompson et al., 2013	DNA	SEQ	MLH1_00331	-	-	-
?/?	4	c.373G>T	-	p.A125S	11.09	0.996	0.6236	Thompson et al., 2013	DNA	SEQ	MLH1_00332	-	-	-
?/?	4	c.374C>A	-	p.A125E	39.72	0.997	0.9679	Thompson et al., 2013	DNA	SEQ	MLH1_00333	-	-	-
?/?	4	c.374C>G	-	p.A125G	5.64	0.765	0.1177	Thompson et al., 2013	DNA	SEQ	MLH1_00334	-	-	-
?/?	4	c.374C>T	-	p.A125V	31.11	0.997	0.9453	Thompson et al., 2013	DNA	SEQ	MLH1_00335	-	-	-
?/?	4	c.376T>A	-	p.Y126N	17.86	0.993	0.8283	Thompson et al., 2013	DNA	SEQ	MLH1_00336	-	-	-
?/?	4	c.376T>C	-	p.Y126H	16.52	0.988	0.7982	Thompson et al., 2013	DNA	SEQ	MLH1_00337	-	-	-
?/?	4	c.376T>G	-	p.Y126D	35.81	0.993	0.959	Thompson et al., 2013	DNA	SEQ	MLH1_00338	-	-	-
?/?	4	c.377A>C	-	p.Y126S	18.59	0.984	0.8356	Thompson et al., 2013	DNA	SEQ	MLH1_00339	-	-	-
?/?	4	c.377A>G	-	p.Y126C	23.02	0.997	0.8972	Thompson et al., 2013	DNA	SEQ	MLH1_00340	-	-	-
?/?	4	c.377A>T	-	p.Y126F	22.82	0.386	0.388	Thompson et al., 2013	DNA	SEQ	MLH1_00341	-	-	-
?/?	4	c.379A>G	-	p.R127G	23.31	0.866	0.8371	Thompson et al., 2013	DNA	SEQ	MLH1_00342	-	-	-
?/?	4	c.380G>A	-	p.R127K	2.09	0.013	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_00343	-	-	-
?/?	4	c.380G>C	-	p.R127T	21.76	0.669	0.6551	Thompson et al., 2013	DNA	SEQ	MLH1_00344	-	-	-
?/?	4	c.380G>T	-	p.R127I	25.85	0.955	0.9047	Thompson et al., 2013	DNA	SEQ	MLH1_00345	-	-	-
?/?	4	c.381A>C	-	p.R127S	19.39	0.334	0.2598	Thompson et al., 2013	DNA	SEQ	MLH1_00346	-	-	-
?/?	4	c.381A>T	-	p.R127S	19.39	0.334	0.2598	Thompson et al., 2013	DNA	SEQ	MLH1_00347	-	-	-
?/?	4	c.382G>A	-	p.A128T	22.87	0.973	0.8859	Thompson et al., 2013	DNA	SEQ	MLH1_00348	-	-	-
?/?	4	c.382G>C	-	p.A128P	18.79	0.988	0.8412	Thompson et al., 2013	DNA	SEQ	MLH1_00349	-	-	-
?/?	4	c.382G>T	-	p.A128S	11.21	0.599	0.2383	Thompson et al., 2013	DNA	SEQ	MLH1_00350	-	-	-
?/?	4	c.383C>A	-	p.A128E	39.7	0.98	0.9655	Thompson et al., 2013	DNA	SEQ	MLH1_00351	-	-	-
?/?	4	c.383C>G	-	p.A128G	5.79	0.599	0.0653	Thompson et al., 2013	DNA	SEQ	MLH1_00352	-	-	-
?/?	4	c.383C>T	-	p.A128V	31.15	0.599	0.7609	Thompson et al., 2013	DNA	SEQ	MLH1_00353	-	-	-
?/?	4	c.385A>C	-	p.S129R	23.23	0.487	0.5037	Thompson et al., 2013	DNA	SEQ	MLH1_00354	-	-	-
?/?	4	c.385A>G	-	p.S129G	2.52	0.26	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_00355	-	-	-
?/?	4	c.385A>T	-	p.S129C	4.25	0.074	0.0037	Thompson et al., 2013	DNA	SEQ	MLH1_00356	-	-	-
?/?	4	c.386G>A	-	p.S129N	2.48	0.022	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_00357	-	-	-
?/?	4	c.386G>C	-	p.S129T	3.18	0.009	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_00358	-	-	-
?/?	4	c.386G>T	-	p.S129I	5.81	0.118	0.009	Thompson et al., 2013	DNA	SEQ	MLH1_00359	-	-	-
?/?	4	c.387T>A	-	p.S129R	23.23	0.487	0.5037	Thompson et al., 2013	DNA	SEQ	MLH1_00360	-	-	-
?/?	4	c.387T>G	-	p.S129R	23.23	0.487	0.5037	Thompson et al., 2013	DNA	SEQ	MLH1_00361	-	-	-
?/?	4	c.388T>A	-	p.Y130N	21.05	0.997	0.8769	Thompson et al., 2013	DNA	SEQ	MLH1_00362	-	-	-
?/?	4	c.388T>C	-	p.Y130H	17.57	0.995	0.8242	Thompson et al., 2013	DNA	SEQ	MLH1_00363	-	-	-
?/?	4	c.388T>G	-	p.Y130D	28.5	0.997	0.9341	Thompson et al., 2013	DNA	SEQ	MLH1_00364	-	-	-
?/?	4	c.389A>C	-	p.Y130S	17.3	0.995	0.819	Thompson et al., 2013	DNA	SEQ	MLH1_00365	-	-	-
?/?	4	c.389A>G	-	p.Y130C	14.49	0.999	0.7548	Thompson et al., 2013	DNA	SEQ	MLH1_00366	-	-	-
?/?	4	c.389A>T	-	p.Y130F	6.21	0.751	0.1352	Thompson et al., 2013	DNA	SEQ	MLH1_00367	-	-	-
?/?	4	c.391T>A	-	p.S131T	3.13	0.036	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_00368	-	-	-
?/?	4	c.391T>C	-	p.S131P	8.9	0.614	0.1649	Thompson et al., 2013	DNA	SEQ	MLH1_00369	-	-	-
?/?	4	c.391T>G	-	p.S131A	5.18	0.023	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_00370	-	-	-
?/?	4	c.392C>T	-	p.S131L	4.35	0.021	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_00371	-	-	-
?/?	4	c.394G>A	-	p.D132N	13.97	0.907	0.6569	Thompson et al., 2013	DNA	SEQ	MLH1_00372	-	-	-
?/?	4	c.394G>C	-	p.D132H	20.32	0.997	0.868	Thompson et al., 2013	DNA	SEQ	MLH1_00373	-	-	-
?/?	4	c.394G>T	-	p.D132Y	21.06	0.997	0.877	Thompson et al., 2013	DNA	SEQ	MLH1_00374	-	-	-
?/?	4	c.395A>C	-	p.D132A	29.51	0.991	0.9373	Thompson et al., 2013	DNA	SEQ	MLH1_00375	-	-	-
?/?	4	c.395A>G	-	p.D132G	20.85	0.991	0.8717	Thompson et al., 2013	DNA	SEQ	MLH1_00376	-	-	-
?/?	4	c.395A>T	-	p.D132V	22.25	0.99	0.8869	Thompson et al., 2013	DNA	SEQ	MLH1_00377	-	-	-
?/?	4	c.396T>A	-	p.D132E	23.98	0.984	0.9006	Thompson et al., 2013	DNA	SEQ	MLH1_00378	-	-	-
?/?	4	c.396T>G	-	p.D132E	23.98	0.984	0.9006	Thompson et al., 2013	DNA	SEQ	MLH1_00379	-	-	-
?/?	4	c.397G>A	-	p.G133R	36.52	1	0.9618	Thompson et al., 2013	DNA	SEQ	MLH1_00380	-	-	-
?/?	4	c.397G>C	-	p.G133R	36.52	1	0.9618	Thompson et al., 2013	DNA	SEQ	MLH1_00381	-	-	-
?/?	4	c.398G>A	-	p.G133E	35.36	0.999	0.9589	Thompson et al., 2013	DNA	SEQ	MLH1_00382	-	-	-
?/?	4	c.398G>C	-	p.G133A	22.05	0.999	0.8887	Thompson et al., 2013	DNA	SEQ	MLH1_00383	-	-	-
?/?	4	c.398G>T	-	p.G133V	29.36	0.999	0.9386	Thompson et al., 2013	DNA	SEQ	MLH1_00384	-	-	-
?/?	4	c.400A>C	-	p.K134Q	11.39	0.753	0.3846	Thompson et al., 2013	DNA	SEQ	MLH1_00385	-	-	-
?/?	4	c.400A>G	-	p.K134E	21.03	0.952	0.8544	Thompson et al., 2013	DNA	SEQ	MLH1_00386	-	-	-
?/?	4	c.401A>C	-	p.K134T	24.57	0.988	0.9069	Thompson et al., 2013	DNA	SEQ	MLH1_00387	-	-	-
?/?	4	c.401A>G	-	p.K134R	4.25	0.753	0.0625	Thompson et al., 2013	DNA	SEQ	MLH1_00388	-	-	-
?/?	4	c.401A>T	-	p.K134I	27.32	0.995	0.9274	Thompson et al., 2013	DNA	SEQ	MLH1_00389	-	-	-
?/?	4	c.402A>C	-	p.K134N	13.1	0.993	0.7047	Thompson et al., 2013	DNA	SEQ	MLH1_00390	-	-	-
?/?	4	c.402A>T	-	p.K134N	13.1	0.993	0.7047	Thompson et al., 2013	DNA	SEQ	MLH1_00391	-	-	-
?/?	4	c.403C>A	-	p.L135M	3.57	0.394	0.0096	Thompson et al., 2013	DNA	SEQ	MLH1_00392	-	-	-
?/?	4	c.403C>G	-	p.L135V	3.23	0.534	0.0139	Thompson et al., 2013	DNA	SEQ	MLH1_00393	-	-	-
?/?	4	c.404T>A	-	p.L135Q	7.89	0.959	0.3951	Thompson et al., 2013	DNA	SEQ	MLH1_00394	-	-	-
?/?	4	c.404T>C	-	p.L135P	4.63	0.117	0.0054	Thompson et al., 2013	DNA	SEQ	MLH1_00395	-	-	-
?/?	4	c.404T>G	-	p.L135R	28.83	0.975	0.9298	Thompson et al., 2013	DNA	SEQ	MLH1_00396	-	-	-
?/?	4	c.406A>C	-	p.K136Q	3.31	0.032	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_00397	-	-	-
?/?	4	c.406A>G	-	p.K136E	10.44	0.264	0.06	Thompson et al., 2013	DNA	SEQ	MLH1_00398	-	-	-
?/?	4	c.407A>C	-	p.K136T	9.01	0.056	0.0185	Thompson et al., 2013	DNA	SEQ	MLH1_00399	-	-	-
?/?	4	c.407A>G	-	p.K136R	2.29	0.589	0.0081	Thompson et al., 2013	DNA	SEQ	MLH1_00400	-	-	-
?/?	4	c.407A>T	-	p.K136I	3.19	0.492	0.0113	Thompson et al., 2013	DNA	SEQ	MLH1_00401	-	-	-
?/?	4	c.408A>C	-	p.K136N	6.88	0.589	0.0901	Thompson et al., 2013	DNA	SEQ	MLH1_00402	-	-	-
?/?	4	c.408A>T	-	p.K136N	6.88	0.589	0.0901	Thompson et al., 2013	DNA	SEQ	MLH1_00403	-	-	-
?/?	4	c.409G>A	-	p.A137T	6.2	0.06	0.0081	Thompson et al., 2013	DNA	SEQ	MLH1_00404	-	-	-
?/?	4	c.409G>C	-	p.A137P	5.31	0.837	0.1365	Thompson et al., 2013	DNA	SEQ	MLH1_00405	-	-	-
?/?	4	c.409G>T	-	p.A137S	3.86	0.133	0.0038	Thompson et al., 2013	DNA	SEQ	MLH1_00406	-	-	-
?/?	4	c.410C>A	-	p.A137D	36.06	0.345	0.6006	Thompson et al., 2013	DNA	SEQ	MLH1_00407	-	-	-
?/?	4	c.410C>G	-	p.A137G	3.51	0.027	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_00408	-	-	-
?/?	4	c.410C>T	-	p.A137V	6.41	0.716	0.1265	Thompson et al., 2013	DNA	SEQ	MLH1_00409	-	-	-
?/?	4	c.412C>A	-	p.P138T	3.42	0.183	0.0036	Thompson et al., 2013	DNA	SEQ	MLH1_00410	-	-	-
?/?	4	c.412C>G	-	p.P138A	4.36	0.129	0.0049	Thompson et al., 2013	DNA	SEQ	MLH1_00411	-	-	-
?/?	4	c.412C>T	-	p.P138S	3.82	0.183	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_00412	-	-	-
?/?	4	c.413C>A	-	p.P138H	11.57	0.943	0.5927	Thompson et al., 2013	DNA	SEQ	MLH1_00413	-	-	-
?/?	4	c.413C>G	-	p.P138R	32.69	0.901	0.9278	Thompson et al., 2013	DNA	SEQ	MLH1_00414	-	-	-
?/?	4	c.413C>T	-	p.P138L	8.98	0.749	0.2637	Thompson et al., 2013	DNA	SEQ	MLH1_00415	-	-	-
?/?	4	c.415C>A	-	p.P139T	4.46	0.918	0.1306	Thompson et al., 2013	DNA	SEQ	MLH1_00416	-	-	-
?/?	4	c.415C>G	-	p.P139A	5.14	0.701	0.076	Thompson et al., 2013	DNA	SEQ	MLH1_00417	-	-	-

801 - 900
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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)