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


?/?	11	c.1007G>A	-	p.G336D	37.39	0.916	0.949	Thompson et al., 2013	DNA	SEQ	MLH1_02201	-	-	-
?/?	11	c.1007G>C	-	p.G336A	16.87	0.531	0.3719	Thompson et al., 2013	DNA	SEQ	MLH1_02202	-	-	-
?/?	11	c.1007G>T	-	p.G336V	24.7	0.916	0.8789	Thompson et al., 2013	DNA	SEQ	MLH1_02203	-	-	-
?/?	11	c.1009T>A	-	p.S337T	2.71	0.009	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02204	-	-	-
?/?	11	c.1009T>C	-	p.S337P	12.06	0.234	0.0724	Thompson et al., 2013	DNA	SEQ	MLH1_02205	-	-	-
?/?	11	c.1009T>G	-	p.S337A	7.07	0.003	0.0086	Thompson et al., 2013	DNA	SEQ	MLH1_02206	-	-	-
?/?	11	c.1010C>A	-	p.S337Y	10.02	0.415	0.0997	Thompson et al., 2013	DNA	SEQ	MLH1_02207	-	-	-
?/?	11	c.1010C>G	-	p.S337C	1.47	0.004	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02208	-	-	-
?/?	11	c.1010C>T	-	p.S337F	11.13	0.415	0.1232	Thompson et al., 2013	DNA	SEQ	MLH1_02209	-	-	-
?/?	11	c.1012A>C	-	p.N338H	9.64	0.809	0.3521	Thompson et al., 2013	DNA	SEQ	MLH1_02210	-	-	-
?/?	11	c.1012A>G	-	p.N338D	5.84	0.063	0.0072	Thompson et al., 2013	DNA	SEQ	MLH1_02211	-	-	-
?/?	11	c.1012A>T	-	p.N338Y	18.95	0.809	0.7159	Thompson et al., 2013	DNA	SEQ	MLH1_02212	-	-	-
?/?	11	c.1013A>C	-	p.N338T	13.59	0.489	0.2326	Thompson et al., 2013	DNA	SEQ	MLH1_02213	-	-	-
?/?	11	c.1013A>G	-	p.N338S	11.62	0.032	0.0294	Thompson et al., 2013	DNA	SEQ	MLH1_02214	-	-	-
?/?	11	c.1013A>T	-	p.N338I	30.09	0.878	0.9062	Thompson et al., 2013	DNA	SEQ	MLH1_02215	-	-	-
?/?	11	c.1014T>A	-	p.N338K	11.95	0.586	0.255	Thompson et al., 2013	DNA	SEQ	MLH1_02216	-	-	-
?/?	11	c.1014T>G	-	p.N338K	11.95	0.586	0.255	Thompson et al., 2013	DNA	SEQ	MLH1_02217	-	-	-
?/?	11	c.1015T>A	-	p.S339T	3.77	0.003	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02218	-	-	-
?/?	11	c.1015T>C	-	p.S339P	31.1	0.32	0.4914	Thompson et al., 2013	DNA	SEQ	MLH1_02219	-	-	-
?/?	11	c.1015T>G	-	p.S339A	24.53	0.003	0.1275	Thompson et al., 2013	DNA	SEQ	MLH1_02220	-	-	-
?/?	11	c.1016C>A	-	p.S339Y	10.56	0.383	0.0982	Thompson et al., 2013	DNA	SEQ	MLH1_02221	-	-	-
?/?	11	c.1016C>G	-	p.S339C	19.77	0.383	0.3112	Thompson et al., 2013	DNA	SEQ	MLH1_02222	-	-	-
?/?	11	c.1016C>T	-	p.S339F	22.69	0.32	0.3208	Thompson et al., 2013	DNA	SEQ	MLH1_02223	-	-	-
?/?	11	c.1018T>A	-	p.S340T	13.44	0.247	0.0954	Thompson et al., 2013	DNA	SEQ	MLH1_02224	-	-	-
?/?	11	c.1018T>C	-	p.S340P	39.26	0.948	0.9597	Thompson et al., 2013	DNA	SEQ	MLH1_02225	-	-	-
?/?	11	c.1018T>G	-	p.S340A	28.89	0.626	0.7506	Thompson et al., 2013	DNA	SEQ	MLH1_02226	-	-	-
?/?	11	c.1019C>A	-	p.S340Y	23.48	0.96	0.8864	Thompson et al., 2013	DNA	SEQ	MLH1_02227	-	-	-
?/?	11	c.1019C>G	-	p.S340C	20.41	0.976	0.8587	Thompson et al., 2013	DNA	SEQ	MLH1_02228	-	-	-
?/?	11	c.1019C>T	-	p.S340F	21.57	0.976	0.8732	Thompson et al., 2013	DNA	SEQ	MLH1_02229	-	-	-
?/?	11	c.1021A>G	-	p.R341G	25.9	0.998	0.9197	Thompson et al., 2013	DNA	SEQ	MLH1_02230	-	-	-
?/?	11	c.1021A>T	-	p.R341W	22.31	0.999	0.8913	Thompson et al., 2013	DNA	SEQ	MLH1_02231	-	-	-
?/?	11	c.1022G>A	-	p.R341K	6.07	0.988	0.2896	Thompson et al., 2013	DNA	SEQ	MLH1_02232	-	-	-
?/?	11	c.1022G>C	-	p.R341T	26.48	0.995	0.9224	Thompson et al., 2013	DNA	SEQ	MLH1_02233	-	-	-
?/?	11	c.1022G>T	-	p.R341M	15.78	0.996	0.7867	Thompson et al., 2013	DNA	SEQ	MLH1_02234	-	-	-
?/?	11	c.1023G>C	-	p.R341S	21.57	0.998	0.8832	Thompson et al., 2013	DNA	SEQ	MLH1_02235	-	-	-
?/?	11	c.1023G>T	-	p.R341S	21.57	0.998	0.8832	Thompson et al., 2013	DNA	SEQ	MLH1_02236	-	-	-
?/?	11	c.1024A>C	-	p.M342L	6.77	0.003	0.0078	Thompson et al., 2013	DNA	SEQ	MLH1_02237	-	-	-
?/?	11	c.1024A>G	-	p.M342V	14.55	-	0.0422	Thompson et al., 2013	DNA	SEQ	MLH1_02238	-	-	-
?/?	11	c.1024A>T	-	p.M342L	6.77	0.003	0.0078	Thompson et al., 2013	DNA	SEQ	MLH1_02239	-	-	-
?/?	11	c.1025T>A	-	p.M342K	30.37	0.008	0.1951	Thompson et al., 2013	DNA	SEQ	MLH1_02240	-	-	-
?/?	11	c.1025T>C	-	p.M342T	2.45	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02241	-	-	-
?/?	11	c.1025T>G	-	p.M342R	30.65	0.014	0.2025	Thompson et al., 2013	DNA	SEQ	MLH1_02242	-	-	-
?/?	11	c.1026G>A	-	p.M342I	10.72	0.001	0.0216	Thompson et al., 2013	DNA	SEQ	MLH1_02243	-	-	-
?/?	11	c.1026G>C	-	p.M342I	10.72	0.001	0.0216	Thompson et al., 2013	DNA	SEQ	MLH1_02244	-	-	-
?/?	11	c.1026G>T	-	p.M342I	10.72	0.001	0.0216	Thompson et al., 2013	DNA	SEQ	MLH1_02245	-	-	-
?/?	11	c.1027T>A	-	p.Y343N	20.84	0.821	0.7669	Thompson et al., 2013	DNA	SEQ	MLH1_02246	-	-	-
?/?	11	c.1027T>C	-	p.Y343H	17.26	0.731	0.5939	Thompson et al., 2013	DNA	SEQ	MLH1_02247	-	-	-
?/?	11	c.1027T>G	-	p.Y343D	27.67	0.821	0.8623	Thompson et al., 2013	DNA	SEQ	MLH1_02248	-	-	-
?/?	11	c.1028A>C	-	p.Y343S	16.76	0.665	0.508	Thompson et al., 2013	DNA	SEQ	MLH1_02249	-	-	-
?/?	11	c.1028A>G	-	p.Y343C	14.55	0.858	0.6302	Thompson et al., 2013	DNA	SEQ	MLH1_02250	-	-	-
?/?	11	c.1028A>T	-	p.Y343F	3.43	0.009	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02251	-	-	-
?/?	11	c.1030T>A	-	p.F344I	8.41	0.307	0.0449	Thompson et al., 2013	DNA	SEQ	MLH1_02252	-	-	-
?/?	11	c.1030T>C	-	p.F344L	11.02	0.016	0.0245	Thompson et al., 2013	DNA	SEQ	MLH1_02253	-	-	-
?/?	11	c.1030T>G	-	p.F344V	15.21	0.308	0.1533	Thompson et al., 2013	DNA	SEQ	MLH1_02254	-	-	-
?/?	11	c.1031T>A	-	p.F344Y	4.5	0.009	0.0032	Thompson et al., 2013	DNA	SEQ	MLH1_02255	-	-	-
?/?	11	c.1031T>C	-	p.F344S	16.36	0.396	0.2371	Thompson et al., 2013	DNA	SEQ	MLH1_02256	-	-	-
?/?	11	c.1031T>G	-	p.F344C	15.37	0.685	0.4802	Thompson et al., 2013	DNA	SEQ	MLH1_02257	-	-	-
?/?	11	c.1032C>A	-	p.F344L	11.02	0.016	0.0245	Thompson et al., 2013	DNA	SEQ	MLH1_02258	-	-	-
?/?	11	c.1032C>G	-	p.F344L	11.02	0.016	0.0245	Thompson et al., 2013	DNA	SEQ	MLH1_02259	-	-	-
?/?	11	c.1033A>C	-	p.T345P	15.68	0.838	0.6497	Thompson et al., 2013	DNA	SEQ	MLH1_02260	-	-	-
?/?	11	c.1033A>G	-	p.T345A	12.19	0.243	0.0767	Thompson et al., 2013	DNA	SEQ	MLH1_02261	-	-	-
?/?	11	c.1033A>T	-	p.T345S	3.81	0.456	0.0145	Thompson et al., 2013	DNA	SEQ	MLH1_02262	-	-	-
?/?	11	c.1034C>A	-	p.T345N	10.29	0.79	0.3675	Thompson et al., 2013	DNA	SEQ	MLH1_02263	-	-	-
?/?	11	c.1034C>G	-	p.T345S	3.81	0.456	0.0145	Thompson et al., 2013	DNA	SEQ	MLH1_02264	-	-	-
?/?	11	c.1034C>T	-	p.T345I	8.38	0.243	0.0343	Thompson et al., 2013	DNA	SEQ	MLH1_02265	-	-	-
?/?	11	c.1036C>A	-	p.Q346K	27.25	0.56	0.6655	Thompson et al., 2013	DNA	SEQ	MLH1_02266	-	-	-
?/?	11	c.1036C>G	-	p.Q346E	26.89	0.944	0.9084	Thompson et al., 2013	DNA	SEQ	MLH1_02267	-	-	-
?/?	11	c.1037A>C	-	p.Q346P	39.94	0.986	0.9668	Thompson et al., 2013	DNA	SEQ	MLH1_02268	-	-	-
?/?	11	c.1037A>G	-	p.Q346R	33.7	0.969	0.9485	Thompson et al., 2013	DNA	SEQ	MLH1_02269	-	-	-
?/?	11	c.1037A>T	-	p.Q346L	19.88	0.992	0.8597	Thompson et al., 2013	DNA	SEQ	MLH1_02270	-	-	-
?/?	11	c.1038G>C	-	p.Q346H	14.36	0.989	0.743	Thompson et al., 2013	DNA	SEQ	MLH1_02271	-	-	-
?/?	11	c.1038G>T	-	p.Q346H	14.36	0.989	0.743	Thompson et al., 2013	DNA	SEQ	MLH1_02272	-	-	-
?/?	12	c.1039A>C	-	p.T347P	7.33	0.591	0.1033	Thompson et al., 2013	DNA	SEQ	MLH1_02273	-	-	-
?/?	12	c.1039A>G	-	p.T347A	3.41	0.017	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02274	-	-	-
?/?	12	c.1039A>T	-	p.T347S	1.83	0.029	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02275	-	-	-
?/?	12	c.1040C>A	-	p.T347N	2.46	0.513	0.0069	Thompson et al., 2013	DNA	SEQ	MLH1_02276	-	-	-
?/?	12	c.1040C>G	-	p.T347S	1.83	0.029	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02277	-	-	-
?/?	12	c.1040C>T	-	p.T347I	4.44	0.257	0.0088	Thompson et al., 2013	DNA	SEQ	MLH1_02278	-	-	-
?/?	12	c.1042T>A	-	p.L348M	10.65	0.759	0.3551	Thompson et al., 2013	DNA	SEQ	MLH1_02279	-	-	-
?/?	12	c.1042T>G	-	p.L348V	25.8	0.067	0.1771	Thompson et al., 2013	DNA	SEQ	MLH1_02280	-	-	-
?/?	12	c.1043T>C	-	p.L348S	22.76	0.636	0.6464	Thompson et al., 2013	DNA	SEQ	MLH1_02281	-	-	-
?/?	12	c.1043T>G	-	p.L348W	22.06	0.898	0.8387	Thompson et al., 2013	DNA	SEQ	MLH1_02282	-	-	-
?/?	12	c.1044G>C	-	p.L348F	12.59	0.067	0.0405	Thompson et al., 2013	DNA	SEQ	MLH1_02283	-	-	-
?/?	12	c.1044G>T	-	p.L348F	12.59	0.067	0.0405	Thompson et al., 2013	DNA	SEQ	MLH1_02284	-	-	-
?/?	12	c.1045C>A	-	p.L349I	15.46	0.695	0.4941	Thompson et al., 2013	DNA	SEQ	MLH1_02285	-	-	-
?/?	12	c.1045C>G	-	p.L349V	25.8	0.898	0.8812	Thompson et al., 2013	DNA	SEQ	MLH1_02286	-	-	-
?/?	12	c.1046T>A	-	p.L349Q	15.01	0.988	0.7609	Thompson et al., 2013	DNA	SEQ	MLH1_02287	-	-	-
?/?	12	c.1046T>C	-	p.L349P	36.32	0.988	0.9594	Thompson et al., 2013	DNA	SEQ	MLH1_02288	-	-	-
?/?	12	c.1046T>G	-	p.L349R	33.02	0.988	0.9501	Thompson et al., 2013	DNA	SEQ	MLH1_02289	-	-	-
?/?	12	c.1048C>A	-	p.P350T	17.77	0.974	0.8148	Thompson et al., 2013	DNA	SEQ	MLH1_02290	-	-	-
?/?	12	c.1048C>G	-	p.P350A	20	0.964	0.8464	Thompson et al., 2013	DNA	SEQ	MLH1_02291	-	-	-
?/?	12	c.1048C>T	-	p.P350S	17.5	0.984	0.8159	Thompson et al., 2013	DNA	SEQ	MLH1_02292	-	-	-
?/?	12	c.1049C>A	-	p.P350Q	17.67	0.98	0.8167	Thompson et al., 2013	DNA	SEQ	MLH1_02293	-	-	-
?/?	12	c.1049C>G	-	p.P350R	41.48	0.98	0.9687	Thompson et al., 2013	DNA	SEQ	MLH1_02294	-	-	-
?/?	12	c.1049C>T	-	p.P350L	26.92	0.398	0.4926	Thompson et al., 2013	DNA	SEQ	MLH1_02295	-	-	-
?/?	12	c.1051G>A	-	p.G351R	23.55	0.757	0.7678	Thompson et al., 2013	DNA	SEQ	MLH1_02296	-	-	-
?/?	12	c.1051G>C	-	p.G351R	23.55	0.757	0.7678	Thompson et al., 2013	DNA	SEQ	MLH1_02297	-	-	-
?/?	12	c.1052G>A	-	p.G351E	25.14	0.694	0.7457	Thompson et al., 2013	DNA	SEQ	MLH1_02298	-	-	-
?/?	12	c.1052G>C	-	p.G351A	8.95	0.321	0.0543	Thompson et al., 2013	DNA	SEQ	MLH1_02299	-	-	-
?/?	12	c.1052G>T	-	p.G351V	8.36	0.605	0.1416	Thompson et al., 2013	DNA	SEQ	MLH1_02300	-	-	-

2201 - 2300
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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)