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


?/?	13	c.1418A>T	-	p.H473L	5.39	-	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_03101	-	-	-
?/?	13	c.1419T>A	-	p.H473Q	5.12	0.01	0.0043	Thompson et al., 2013	DNA	SEQ	MLH1_03102	-	-	-
?/?	13	c.1419T>G	-	p.H473Q	5.12	0.01	0.0043	Thompson et al., 2013	DNA	SEQ	MLH1_03103	-	-	-
?/?	13	c.1420C>G	-	p.R474G	16.4	0.129	0.0911	Thompson et al., 2013	DNA	SEQ	MLH1_03104	-	-	-
?/?	13	c.1420C>T	-	p.R474W	13.31	0.589	0.3068	Thompson et al., 2013	DNA	SEQ	MLH1_03105	-	-	-
?/?	13	c.1421G>A	-	p.R474Q	6.32	0.134	0.0116	Thompson et al., 2013	DNA	SEQ	MLH1_03106	-	-	-
?/?	13	c.1421G>C	-	p.R474P	22.49	0.004	0.1075	Thompson et al., 2013	DNA	SEQ	MLH1_03107	-	-	-
?/?	13	c.1421G>T	-	p.R474L	19.66	0.179	0.1576	Thompson et al., 2013	DNA	SEQ	MLH1_03108	-	-	-
?/?	13	c.1423G>A	-	p.E475K	2.9	0.003	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_03109	-	-	-
?/?	13	c.1423G>C	-	p.E475Q	1.82	0.112	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03110	-	-	-
?/?	13	c.1424A>C	-	p.E475A	3.61	0.046	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_03111	-	-	-
?/?	13	c.1424A>G	-	p.E475G	3.79	0.046	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_03112	-	-	-
?/?	13	c.1424A>T	-	p.E475V	3.71	0.002	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_03113	-	-	-
?/?	13	c.1425A>C	-	p.E475D	2.3	0.046	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_03114	-	-	-
?/?	13	c.1425A>T	-	p.E475D	2.3	0.046	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_03115	-	-	-
?/?	13	c.1426G>A	-	p.D476N	3.36	0.01	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_03116	-	-	-
?/?	13	c.1426G>C	-	p.D476H	4.76	0.064	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_03117	-	-	-
?/?	13	c.1426G>T	-	p.D476Y	5.57	0.047	0.0061	Thompson et al., 2013	DNA	SEQ	MLH1_03118	-	-	-
?/?	13	c.1427A>C	-	p.D476A	5.68	0.006	0.0053	Thompson et al., 2013	DNA	SEQ	MLH1_03119	-	-	-
?/?	13	c.1427A>G	-	p.D476G	6.55	-	0.0071	Thompson et al., 2013	DNA	SEQ	MLH1_03120	-	-	-
?/?	13	c.1427A>T	-	p.D476V	3.99	-	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_03121	-	-	-
?/?	13	c.1428T>A	-	p.D476E	1.72	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03122	-	-	-
?/?	13	c.1428T>G	-	p.D476E	1.72	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03123	-	-	-
?/?	13	c.1429T>A	-	p.S477T	3.53	0.001	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_03124	-	-	-
?/?	13	c.1429T>C	-	p.S477P	30.93	0.112	0.2823	Thompson et al., 2013	DNA	SEQ	MLH1_03125	-	-	-
?/?	13	c.1429T>G	-	p.S477A	24.38	0.011	0.1297	Thompson et al., 2013	DNA	SEQ	MLH1_03126	-	-	-
?/?	13	c.1430C>A	-	p.S477Y	10.13	0.188	0.0414	Thompson et al., 2013	DNA	SEQ	MLH1_03127	-	-	-
?/?	13	c.1430C>G	-	p.S477C	19.89	0.295	0.2395	Thompson et al., 2013	DNA	SEQ	MLH1_03128	-	-	-
?/?	13	c.1430C>T	-	p.S477F	22.68	0.188	0.2119	Thompson et al., 2013	DNA	SEQ	MLH1_03129	-	-	-
?/?	13	c.1432G>A	-	p.D478N	6.44	0.006	0.0071	Thompson et al., 2013	DNA	SEQ	MLH1_03130	-	-	-
?/?	13	c.1432G>C	-	p.D478H	8.38	0.155	0.0238	Thompson et al., 2013	DNA	SEQ	MLH1_03131	-	-	-
?/?	13	c.1432G>T	-	p.D478Y	7.14	0.234	0.0232	Thompson et al., 2013	DNA	SEQ	MLH1_03132	-	-	-
?/?	13	c.1433A>C	-	p.D478A	14.56	0.002	0.0426	Thompson et al., 2013	DNA	SEQ	MLH1_03133	-	-	-
?/?	13	c.1433A>G	-	p.D478G	8.56	0.027	0.0146	Thompson et al., 2013	DNA	SEQ	MLH1_03134	-	-	-
?/?	13	c.1433A>T	-	p.D478V	16.84	0.019	0.0624	Thompson et al., 2013	DNA	SEQ	MLH1_03135	-	-	-
?/?	13	c.1434T>A	-	p.D478E	6.38	0.002	0.0068	Thompson et al., 2013	DNA	SEQ	MLH1_03136	-	-	-
?/?	13	c.1434T>G	-	p.D478E	6.38	0.002	0.0068	Thompson et al., 2013	DNA	SEQ	MLH1_03137	-	-	-
?/?	13	c.1435G>A	-	p.V479M	9.27	0.011	0.0163	Thompson et al., 2013	DNA	SEQ	MLH1_03138	-	-	-
?/?	13	c.1435G>C	-	p.V479L	7.52	0.018	0.0105	Thompson et al., 2013	DNA	SEQ	MLH1_03139	-	-	-
?/?	13	c.1435G>T	-	p.V479L	7.52	0.018	0.0105	Thompson et al., 2013	DNA	SEQ	MLH1_03140	-	-	-
?/?	13	c.1436T>A	-	p.V479E	30.24	0.002	0.1896	Thompson et al., 2013	DNA	SEQ	MLH1_03141	-	-	-
?/?	13	c.1436T>C	-	p.V479A	9.96	0.026	0.0204	Thompson et al., 2013	DNA	SEQ	MLH1_03142	-	-	-
?/?	13	c.1436T>G	-	p.V479G	6.5	0.026	0.0078	Thompson et al., 2013	DNA	SEQ	MLH1_03143	-	-	-
?/?	13	c.1438G>A	-	p.E480K	9.25	0.046	0.0188	Thompson et al., 2013	DNA	SEQ	MLH1_03144	-	-	-
?/?	13	c.1438G>C	-	p.E480Q	5.16	0.011	0.0044	Thompson et al., 2013	DNA	SEQ	MLH1_03145	-	-	-
?/?	13	c.1439A>C	-	p.E480A	22.22	0.046	0.1229	Thompson et al., 2013	DNA	SEQ	MLH1_03146	-	-	-
?/?	13	c.1439A>G	-	p.E480G	22.18	0.046	0.1225	Thompson et al., 2013	DNA	SEQ	MLH1_03147	-	-	-
?/?	13	c.1439A>T	-	p.E480V	34.45	0.079	0.3039	Thompson et al., 2013	DNA	SEQ	MLH1_03148	-	-	-
?/?	13	c.1440A>C	-	p.E480D	8.96	0.003	0.0146	Thompson et al., 2013	DNA	SEQ	MLH1_03149	-	-	-
?/?	13	c.1440A>T	-	p.E480D	8.96	0.003	0.0146	Thompson et al., 2013	DNA	SEQ	MLH1_03150	-	-	-
?/?	13	c.1441A>C	-	p.M481L	2.15	0.002	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03151	-	-	-
?/?	13	c.1441A>G	-	p.M481V	5.15	0.017	0.0045	Thompson et al., 2013	DNA	SEQ	MLH1_03152	-	-	-
?/?	13	c.1441A>T	-	p.M481L	2.15	0.002	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03153	-	-	-
?/?	13	c.1442T>A	-	p.M481K	3.23	0.042	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_03154	-	-	-
?/?	13	c.1442T>C	-	p.M481T	3.43	0.002	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_03155	-	-	-
?/?	13	c.1442T>G	-	p.M481R	3.57	0.073	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_03156	-	-	-
?/?	13	c.1443G>A	-	p.M481I	4.03	0.006	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03157	-	-	-
?/?	13	c.1443G>C	-	p.M481I	4.03	0.006	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03158	-	-	-
?/?	13	c.1443G>T	-	p.M481I	4.03	0.006	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_03159	-	-	-
?/?	13	c.1444G>A	-	p.V482M	2.36	0.002	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_03160	-	-	-
?/?	13	c.1444G>C	-	p.V482L	2.26	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03161	-	-	-
?/?	13	c.1444G>T	-	p.V482L	2.26	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_03162	-	-	-
?/?	13	c.1445T>A	-	p.V482E	5.14	0.001	0.0042	Thompson et al., 2013	DNA	SEQ	MLH1_03163	-	-	-
?/?	13	c.1445T>C	-	p.V482A	3.53	0.002	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_03164	-	-	-
?/?	13	c.1445T>G	-	p.V482G	4.61	0.016	0.0035	Thompson et al., 2013	DNA	SEQ	MLH1_03165	-	-	-
?/?	13	c.1447G>A	-	p.E483K	4.2	0.005	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_03166	-	-	-
?/?	13	c.1447G>C	-	p.E483Q	2.76	0.018	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_03167	-	-	-
?/?	13	c.1448A>C	-	p.E483A	7.31	0.046	0.0111	Thompson et al., 2013	DNA	SEQ	MLH1_03168	-	-	-
?/?	13	c.1448A>G	-	p.E483G	5.61	0.046	0.0061	Thompson et al., 2013	DNA	SEQ	MLH1_03169	-	-	-
?/?	13	c.1448A>T	-	p.E483V	10.42	0.032	0.0231	Thompson et al., 2013	DNA	SEQ	MLH1_03170	-	-	-
?/?	13	c.1449A>C	-	p.E483D	1.65	0.003	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03171	-	-	-
?/?	13	c.1449A>T	-	p.E483D	1.65	0.003	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03172	-	-	-
?/?	13	c.1450G>A	-	p.D484N	9.52	0.001	0.0166	Thompson et al., 2013	DNA	SEQ	MLH1_03173	-	-	-
?/?	13	c.1450G>C	-	p.D484H	12.32	0.105	0.0451	Thompson et al., 2013	DNA	SEQ	MLH1_03174	-	-	-
?/?	13	c.1450G>T	-	p.D484Y	9.99	0.079	0.0256	Thompson et al., 2013	DNA	SEQ	MLH1_03175	-	-	-
?/?	13	c.1451A>C	-	p.D484A	20.14	0.018	0.0905	Thompson et al., 2013	DNA	SEQ	MLH1_03176	-	-	-
?/?	13	c.1451A>G	-	p.D484G	13.78	-	0.0375	Thompson et al., 2013	DNA	SEQ	MLH1_03177	-	-	-
?/?	13	c.1451A>T	-	p.D484V	25.66	0.001	0.1383	Thompson et al., 2013	DNA	SEQ	MLH1_03178	-	-	-
?/?	13	c.1452T>A	-	p.D484E	2.04	0.001	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03179	-	-	-
?/?	13	c.1452T>G	-	p.D484E	2.04	0.001	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03180	-	-	-
?/?	13	c.1453G>A	-	p.D485N	1.71	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_03181	-	-	-
?/?	13	c.1453G>C	-	p.D485H	2.7	0.001	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_03182	-	-	-
?/?	13	c.1453G>T	-	p.D485Y	3.32	0.026	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_03183	-	-	-
?/?	13	c.1454A>C	-	p.D485A	3.2	-	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03184	-	-	-
?/?	13	c.1454A>G	-	p.D485G	2.73	-	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_03185	-	-	-
?/?	13	c.1454A>T	-	p.D485V	3.41	0.007	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_03186	-	-	-
?/?	13	c.1455T>A	-	p.D485E	2.02	-	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03187	-	-	-
?/?	13	c.1455T>G	-	p.D485E	2.02	-	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03188	-	-	-
?/?	13	c.1456T>A	-	p.S486T	2.53	0.001	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_03189	-	-	-
?/?	13	c.1456T>C	-	p.S486P	4.7	0.001	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_03190	-	-	-
?/?	13	c.1456T>G	-	p.S486A	3.62	0.01	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_03191	-	-	-
?/?	13	c.1457C>A	-	p.S486Y	4.31	0.047	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_03192	-	-	-
?/?	13	c.1457C>G	-	p.S486C	2.7	0.082	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03193	-	-	-
?/?	13	c.1457C>T	-	p.S486F	4.7	0.047	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_03194	-	-	-
?/?	13	c.1459C>G	-	p.R487G	3.05	0.001	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_03195	-	-	-
?/?	13	c.1460G>A	-	p.R487Q	2.03	0.005	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03196	-	-	-
?/?	13	c.1460G>C	-	p.R487P	8.19	0.051	0.0146	Thompson et al., 2013	DNA	SEQ	MLH1_03197	-	-	-
?/?	13	c.1460G>T	-	p.R487L	3.03	0.029	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_03198	-	-	-
?/?	13	c.1462A>C	-	p.K488Q	1.71	0.166	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_03199	-	-	-
?/?	13	c.1462A>G	-	p.K488E	2.09	0.003	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_03200	-	-	-

3101 - 3200
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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)