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.1054C>A	-	p.L352I	2.19	0.009	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02301	-	-	-
?/?	12	c.1054C>G	-	p.L352V	3.18	0.001	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02302	-	-	-
?/?	12	c.1054C>T	-	p.L352F	2.68	0.055	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02303	-	-	-
?/?	12	c.1055T>A	-	p.L352H	3.75	0.004	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02304	-	-	-
?/?	12	c.1055T>C	-	p.L352P	7.54	0.001	0.0099	Thompson et al., 2013	DNA	SEQ	MLH1_02305	-	-	-
?/?	12	c.1055T>G	-	p.L352R	9.2	0.088	0.0221	Thompson et al., 2013	DNA	SEQ	MLH1_02306	-	-	-
?/?	12	c.1057G>A	-	p.A353T	2.49	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02307	-	-	-
?/?	12	c.1057G>C	-	p.A353P	3.38	-	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02308	-	-	-
?/?	12	c.1057G>T	-	p.A353S	1.85	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02309	-	-	-
?/?	12	c.1058C>A	-	p.A353D	6.01	0.002	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_02310	-	-	-
?/?	12	c.1058C>G	-	p.A353G	2.48	-	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02311	-	-	-
?/?	12	c.1058C>T	-	p.A353V	2.92	-	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02312	-	-	-
?/?	12	c.1060G>A	-	p.G354S	1.76	0.005	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02313	-	-	-
?/?	12	c.1060G>C	-	p.G354R	31.43	0.088	0.2692	Thompson et al., 2013	DNA	SEQ	MLH1_02314	-	-	-
?/?	12	c.1060G>T	-	p.G354C	1.23	0.004	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02315	-	-	-
?/?	12	c.1061G>A	-	p.G354D	32.94	0.001	0.2205	Thompson et al., 2013	DNA	SEQ	MLH1_02316	-	-	-
?/?	12	c.1061G>C	-	p.G354A	2.93	0.003	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02317	-	-	-
?/?	12	c.1061G>T	-	p.G354V	1.73	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02318	-	-	-
?/?	12	c.1063C>A	-	p.P355T	2.35	0.001	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02319	-	-	-
?/?	12	c.1063C>G	-	p.P355A	3.5	0.006	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02320	-	-	-
?/?	12	c.1063C>T	-	p.P355S	2.59	0.001	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02321	-	-	-
?/?	12	c.1064C>A	-	p.P355H	11.62	0.195	0.0572	Thompson et al., 2013	DNA	SEQ	MLH1_02322	-	-	-
?/?	12	c.1064C>G	-	p.P355R	29.79	0.068	0.2305	Thompson et al., 2013	DNA	SEQ	MLH1_02323	-	-	-
?/?	12	c.1064C>T	-	p.P355L	6.35	0.003	0.0068	Thompson et al., 2013	DNA	SEQ	MLH1_02324	-	-	-
?/?	12	c.1066T>A	-	p.S356T	2.23	0.002	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02325	-	-	-
?/?	12	c.1066T>C	-	p.S356P	6.26	0.068	0.0086	Thompson et al., 2013	DNA	SEQ	MLH1_02326	-	-	-
?/?	12	c.1066T>G	-	p.S356A	3.38	0.002	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02327	-	-	-
?/?	12	c.1067C>A	-	p.S356Y	3.13	0.118	0.0022	Thompson et al., 2013	DNA	SEQ	MLH1_02328	-	-	-
?/?	12	c.1067C>G	-	p.S356C	1.6	0.195	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02329	-	-	-
?/?	12	c.1067C>T	-	p.S356F	2.62	0.118	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02330	-	-	-
?/?	12	c.1069G>A	-	p.G357R	32.99	0.047	0.2567	Thompson et al., 2013	DNA	SEQ	MLH1_02331	-	-	-
?/?	12	c.1069G>C	-	p.G357R	32.99	0.047	0.2567	Thompson et al., 2013	DNA	SEQ	MLH1_02332	-	-	-
?/?	12	c.1069G>T	-	p.G357W	5.98	0.405	0.0318	Thompson et al., 2013	DNA	SEQ	MLH1_02333	-	-	-
?/?	12	c.1070G>A	-	p.G357E	31.92	0.002	0.2092	Thompson et al., 2013	DNA	SEQ	MLH1_02334	-	-	-
?/?	12	c.1070G>C	-	p.G357A	3.47	0.002	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_02335	-	-	-
?/?	12	c.1070G>T	-	p.G357V	4.18	0.019	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02336	-	-	-
?/?	12	c.1072G>A	-	p.E358K	4.38	0.001	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02337	-	-	-
?/?	12	c.1072G>C	-	p.E358Q	2.87	0.026	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02338	-	-	-
?/?	12	c.1073A>C	-	p.E358A	6.39	0.001	0.0068	Thompson et al., 2013	DNA	SEQ	MLH1_02339	-	-	-
?/?	12	c.1073A>G	-	p.E358G	4.37	0.001	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02340	-	-	-
?/?	12	c.1073A>T	-	p.E358V	11.59	-	0.0256	Thompson et al., 2013	DNA	SEQ	MLH1_02341	-	-	-
?/?	12	c.1074G>C	-	p.E358D	3.13	0.001	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02342	-	-	-
?/?	12	c.1074G>T	-	p.E358D	3.13	0.001	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02343	-	-	-
?/?	12	c.1075A>C	-	p.M359L	2.59	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02344	-	-	-
?/?	12	c.1075A>G	-	p.M359V	1.67	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02345	-	-	-
?/?	12	c.1075A>T	-	p.M359L	2.59	-	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_02346	-	-	-
?/?	12	c.1076T>A	-	p.M359K	3.41	-	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02347	-	-	-
?/?	12	c.1076T>C	-	p.M359T	2.1	-	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02348	-	-	-
?/?	12	c.1076T>G	-	p.M359R	3.78	-	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02349	-	-	-
?/?	12	c.1077G>A	-	p.M359I	1.87	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02350	-	-	-
?/?	12	c.1077G>C	-	p.M359I	1.87	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02351	-	-	-
?/?	12	c.1077G>T	-	p.M359I	1.87	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02352	-	-	-
?/?	12	c.1078G>A	-	p.V360I	3.78	0.001	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02353	-	-	-
?/?	12	c.1078G>C	-	p.V360L	4.61	0.006	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_02354	-	-	-
?/?	12	c.1078G>T	-	p.V360F	4.94	0.072	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_02355	-	-	-
?/?	12	c.1079T>A	-	p.V360D	5.45	0.004	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_02356	-	-	-
?/?	12	c.1079T>C	-	p.V360A	3.81	0.001	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02357	-	-	-
?/?	12	c.1079T>G	-	p.V360G	3.12	0.016	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_02358	-	-	-
?/?	12	c.1081A>C	-	p.K361Q	4.37	0.01	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02359	-	-	-
?/?	12	c.1081A>G	-	p.K361E	6.49	0.002	0.0071	Thompson et al., 2013	DNA	SEQ	MLH1_02360	-	-	-
?/?	12	c.1082A>C	-	p.K361T	7.57	0.046	0.012	Thompson et al., 2013	DNA	SEQ	MLH1_02361	-	-	-
?/?	12	c.1082A>G	-	p.K361R	3.61	0.003	0.0019	Thompson et al., 2013	DNA	SEQ	MLH1_02362	-	-	-
?/?	12	c.1082A>T	-	p.K361I	26.14	0.115	0.2138	Thompson et al., 2013	DNA	SEQ	MLH1_02363	-	-	-
?/?	12	c.1083A>C	-	p.K361N	3.63	0.01	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_02364	-	-	-
?/?	12	c.1083A>T	-	p.K361N	3.63	0.01	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_02365	-	-	-
?/?	12	c.1084T>A	-	p.S362T	3.11	0.027	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02366	-	-	-
?/?	12	c.1084T>C	-	p.S362P	4.59	0.001	0.0032	Thompson et al., 2013	DNA	SEQ	MLH1_02367	-	-	-
?/?	12	c.1084T>G	-	p.S362A	4.95	0.009	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_02368	-	-	-
?/?	12	c.1085C>A	-	p.S362Y	4.13	0.155	0.0049	Thompson et al., 2013	DNA	SEQ	MLH1_02369	-	-	-
?/?	12	c.1085C>G	-	p.S362C	5.43	0.286	0.0157	Thompson et al., 2013	DNA	SEQ	MLH1_02370	-	-	-
?/?	12	c.1085C>T	-	p.S362F	5.66	0.234	0.0138	Thompson et al., 2013	DNA	SEQ	MLH1_02371	-	-	-
?/?	12	c.1087A>C	-	p.T363P	6.86	0.026	0.0089	Thompson et al., 2013	DNA	SEQ	MLH1_02372	-	-	-
?/?	12	c.1087A>G	-	p.T363A	3.52	-	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02373	-	-	-
?/?	12	c.1087A>T	-	p.T363S	1.65	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02374	-	-	-
?/?	12	c.1088C>A	-	p.T363K	28.8	0.01	0.1781	Thompson et al., 2013	DNA	SEQ	MLH1_02375	-	-	-
?/?	12	c.1088C>G	-	p.T363R	34.29	0.018	0.2499	Thompson et al., 2013	DNA	SEQ	MLH1_02376	-	-	-
?/?	12	c.1088C>T	-	p.T363I	3.07	0.007	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_02377	-	-	-
?/?	12	c.1090A>C	-	p.T364P	3.85	-	0.0022	Thompson et al., 2013	DNA	SEQ	MLH1_02378	-	-	-
?/?	12	c.1090A>G	-	p.T364A	2.83	-	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02379	-	-	-
?/?	12	c.1090A>T	-	p.T364S	1.36	0.006	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02380	-	-	-
?/?	12	c.1091C>A	-	p.T364K	28.2	-	0.1652	Thompson et al., 2013	DNA	SEQ	MLH1_02381	-	-	-
?/?	12	c.1091C>G	-	p.T364R	33.35	0.01	0.2321	Thompson et al., 2013	DNA	SEQ	MLH1_02382	-	-	-
?/?	12	c.1091C>T	-	p.T364I	4.26	0.001	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_02383	-	-	-
?/?	12	c.1093A>C	-	p.S365R	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02384	-	-	-
?/?	12	c.1093A>G	-	p.S365G	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02385	-	-	-
?/?	12	c.1093A>T	-	p.S365C	-	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02386	-	-	-
?/?	12	c.1094G>A	-	p.S365N	-	0.007	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02387	-	-	-
?/?	12	c.1094G>C	-	p.S365T	-	0.007	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02388	-	-	-
?/?	12	c.1094G>T	-	p.S365I	-	0.019	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02389	-	-	-
?/?	12	c.1095T>A	-	p.S365R	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02390	-	-	-
?/?	12	c.1095T>G	-	p.S365R	-	0.002	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02391	-	-	-
?/?	12	c.1096C>A	-	p.L366M	-	0.004	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02392	-	-	-
?/?	12	c.1096C>G	-	p.L366V	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_02393	-	-	-
?/?	12	c.1097T>A	-	p.L366Q	-	0.026	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02394	-	-	-
?/?	12	c.1097T>C	-	p.L366P	-	0.026	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02395	-	-	-
?/?	12	c.1097T>G	-	p.L366R	-	0.018	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02396	-	-	-
?/?	12	c.1099A>C	-	p.T367P	7.88	0.001	0.0109	Thompson et al., 2013	DNA	SEQ	MLH1_02397	-	-	-
?/?	12	c.1099A>G	-	p.T367A	3.8	-	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02398	-	-	-
?/?	12	c.1099A>T	-	p.T367S	1.69	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02399	-	-	-
?/?	12	c.1100C>A	-	p.T367N	5.29	0.018	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_02400	-	-	-

2301 - 2400
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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)