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


?/?	1	c.4T>A	-	p.S2T	11.29	0.015	0.0257	Thompson et al., 2013	DNA	SEQ	MLH1_00001	-	-	-
?/?	1	c.4T>C	-	p.S2P	14.88	0.061	0.0567	Thompson et al., 2013	DNA	SEQ	MLH1_00002	-	-	-
?/?	1	c.4T>G	-	p.S2A	2.42	0.001	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_00003	-	-	-
?/?	1	c.5C>G	-	p.S2W	24.29	0.52	0.5638	Thompson et al., 2013	DNA	SEQ	MLH1_00004	-	-	-
?/?	1	c.5C>T	-	p.S2L	13.39	0.015	0.0375	Thompson et al., 2013	DNA	SEQ	MLH1_00005	-	-	-
?/?	1	c.7T>A	-	p.F3I	-	0.003	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_00006	-	-	-
?/?	1	c.7T>C	-	p.F3L	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_00007	-	-	-
?/?	1	c.7T>G	-	p.F3V	-	0.006	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_00008	-	-	-
?/?	1	c.8T>A	-	p.F3Y	-	0.024	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_00009	-	-	-
?/?	1	c.8T>C	-	p.F3S	-	0.008	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_00010	-	-	-
?/?	1	c.8T>G	-	p.F3C	-	0.068	0.0042	Thompson et al., 2013	DNA	SEQ	MLH1_00011	-	-	-
?/?	1	c.9C>A	-	p.F3L	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_00012	-	-	-
?/?	1	c.9C>G	-	p.F3L	-	-	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_00013	-	-	-
?/?	1	c.10G>A	-	p.V4M	-	0.029	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_00014	-	-	-
?/?	1	c.10G>C	-	p.V4L	-	0.131	0.0072	Thompson et al., 2013	DNA	SEQ	MLH1_00015	-	-	-
?/?	1	c.10G>T	-	p.V4L	-	0.131	0.0072	Thompson et al., 2013	DNA	SEQ	MLH1_00016	-	-	-
?/?	1	c.11T>A	-	p.V4E	-	0.396	0.0634	Thompson et al., 2013	DNA	SEQ	MLH1_00017	-	-	-
?/?	1	c.11T>C	-	p.V4A	-	0.298	0.0287	Thompson et al., 2013	DNA	SEQ	MLH1_00018	-	-	-
?/?	1	c.11T>G	-	p.V4G	-	0.525	0.1676	Thompson et al., 2013	DNA	SEQ	MLH1_00019	-	-	-
?/?	1	c.13G>A	-	p.A5T	4.2	0.133	0.0046	Thompson et al., 2013	DNA	SEQ	MLH1_00020	-	-	-
?/?	1	c.13G>C	-	p.A5P	4.44	0.007	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_00021	-	-	-
?/?	1	c.13G>T	-	p.A5S	3.46	0.017	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_00022	-	-	-
?/?	1	c.14C>A	-	p.A5E	31.49	0.294	0.4708	Thompson et al., 2013	DNA	SEQ	MLH1_00023	-	-	-
?/?	1	c.14C>G	-	p.A5G	3.53	0.01	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_00024	-	-	-
?/?	1	c.14C>T	-	p.A5V	2.42	0.294	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_00025	-	-	-
?/?	1	c.16G>A	-	p.G6R	32.8	0.983	0.9484	Thompson et al., 2013	DNA	SEQ	MLH1_00026	-	-	-
?/?	1	c.16G>C	-	p.G6R	32.8	0.983	0.9484	Thompson et al., 2013	DNA	SEQ	MLH1_00027	-	-	-
?/?	1	c.16G>T	-	p.G6W	6.31	0.996	0.3153	Thompson et al., 2013	DNA	SEQ	MLH1_00028	-	-	-
?/?	1	c.17G>A	-	p.G6E	31.62	0.964	0.9397	Thompson et al., 2013	DNA	SEQ	MLH1_00029	-	-	-
?/?	1	c.17G>C	-	p.G6A	3.87	0.914	0.0967	Thompson et al., 2013	DNA	SEQ	MLH1_00030	-	-	-
?/?	1	c.17G>T	-	p.G6V	3.05	0.964	0.0716	Thompson et al., 2013	DNA	SEQ	MLH1_00031	-	-	-
?/?	1	c.19G>A	-	p.V7I	4.41	0.041	0.0035	Thompson et al., 2013	DNA	SEQ	MLH1_00032	-	-	-
?/?	1	c.19G>C	-	p.V7L	6.79	0.117	0.0127	Thompson et al., 2013	DNA	SEQ	MLH1_00033	-	-	-
?/?	1	c.19G>T	-	p.V7F	6.52	0.05	0.0087	Thompson et al., 2013	DNA	SEQ	MLH1_00034	-	-	-
?/?	1	c.20T>A	-	p.V7D	33.34	0.513	0.7203	Thompson et al., 2013	DNA	SEQ	MLH1_00035	-	-	-
?/?	1	c.20T>C	-	p.V7A	7.89	0.18	0.0231	Thompson et al., 2013	DNA	SEQ	MLH1_00036	-	-	-
?/?	1	c.20T>G	-	p.V7G	5.21	0.365	0.0199	Thompson et al., 2013	DNA	SEQ	MLH1_00037	-	-	-
?/?	1	c.22A>C	-	p.I8L	10.44	0.935	0.5269	Thompson et al., 2013	DNA	SEQ	MLH1_00038	-	-	-
?/?	1	c.22A>G	-	p.I8V	10.65	0.739	0.3358	Thompson et al., 2013	DNA	SEQ	MLH1_00039	-	-	-
?/?	1	c.22A>T	-	p.I8F	10.65	0.994	0.5997	Thompson et al., 2013	DNA	SEQ	MLH1_00040	-	-	-
?/?	1	c.23T>A	-	p.I8N	17.95	0.997	0.8323	Thompson et al., 2013	DNA	SEQ	MLH1_00041	-	-	-
?/?	1	c.23T>C	-	p.I8T	19.6	0.99	0.8547	Thompson et al., 2013	DNA	SEQ	MLH1_00042	-	-	-
?/?	1	c.23T>G	-	p.I8S	20.83	0.994	0.8729	Thompson et al., 2013	DNA	SEQ	MLH1_00043	-	-	-
?/?	1	c.24T>G	-	p.I8M	15.7	0.992	0.7819	Thompson et al., 2013	DNA	SEQ	MLH1_00044	-	-	-
?/?	1	c.25C>G	-	p.R9G	24.2	0.914	0.8729	Thompson et al., 2013	DNA	SEQ	MLH1_00045	-	-	-
?/?	1	c.25C>T	-	p.R9W	19.89	0.99	0.8588	Thompson et al., 2013	DNA	SEQ	MLH1_00046	-	-	-
?/?	1	c.26G>A	-	p.R9Q	11.7	0.391	0.1244	Thompson et al., 2013	DNA	SEQ	MLH1_00047	-	-	-
?/?	1	c.26G>C	-	p.R9P	32.38	0.936	0.9359	Thompson et al., 2013	DNA	SEQ	MLH1_00048	-	-	-
?/?	1	c.26G>T	-	p.R9L	20.21	0.209	0.1846	Thompson et al., 2013	DNA	SEQ	MLH1_00049	-	-	-
?/?	1	c.28C>G	-	p.R10G	23.63	0.8	0.8001	Thompson et al., 2013	DNA	SEQ	MLH1_00050	-	-	-
?/?	1	c.28C>T	-	p.R10W	19.25	0.978	0.8429	Thompson et al., 2013	DNA	SEQ	MLH1_00051	-	-	-
?/?	1	c.29G>A	-	p.R10Q	10.95	0.757	0.3677	Thompson et al., 2013	DNA	SEQ	MLH1_00052	-	-	-
?/?	1	c.29G>C	-	p.R10P	29	0.91	0.9105	Thompson et al., 2013	DNA	SEQ	MLH1_00053	-	-	-
?/?	1	c.29G>T	-	p.R10L	20.56	0.871	0.7979	Thompson et al., 2013	DNA	SEQ	MLH1_00054	-	-	-
?/?	1	c.31C>A	-	p.L11M	10.65	0.999	0.6048	Thompson et al., 2013	DNA	SEQ	MLH1_00055	-	-	-
?/?	1	c.31C>G	-	p.L11V	25.8	0.999	0.9194	Thompson et al., 2013	DNA	SEQ	MLH1_00056	-	-	-
?/?	1	c.32T>A	-	p.L11Q	15.01	0.999	0.7693	Thompson et al., 2013	DNA	SEQ	MLH1_00057	-	-	-
?/?	1	c.32T>C	-	p.L11P	36.32	0.999	0.9612	Thompson et al., 2013	DNA	SEQ	MLH1_00058	-	-	-
?/?	1	c.32T>G	-	p.L11R	33.02	0.999	0.9523	Thompson et al., 2013	DNA	SEQ	MLH1_00059	-	-	-
?/?	1	c.34G>A	-	p.D12N	13.9	0.913	0.6601	Thompson et al., 2013	DNA	SEQ	MLH1_00060	-	-	-
?/?	1	c.34G>C	-	p.D12H	18.42	0.958	0.8168	Thompson et al., 2013	DNA	SEQ	MLH1_00061	-	-	-
?/?	1	c.34G>T	-	p.D12Y	14.31	0.975	0.7299	Thompson et al., 2013	DNA	SEQ	MLH1_00062	-	-	-
?/?	1	c.35A>C	-	p.D12A	22.31	0.617	0.617	Thompson et al., 2013	DNA	SEQ	MLH1_00063	-	-	-
?/?	1	c.35A>G	-	p.D12G	18.21	0.885	0.7609	Thompson et al., 2013	DNA	SEQ	MLH1_00064	-	-	-
?/?	1	c.35A>T	-	p.D12V	24.56	0.946	0.8906	Thompson et al., 2013	DNA	SEQ	MLH1_00065	-	-	-
?/?	1	c.36C>A	-	p.D12E	3.66	0.24	0.0053	Thompson et al., 2013	DNA	SEQ	MLH1_00066	-	-	-
?/?	1	c.36C>G	-	p.D12E	3.66	0.24	0.0053	Thompson et al., 2013	DNA	SEQ	MLH1_00067	-	-	-
?/?	1	c.37G>A	-	p.E13K	19.98	0.986	0.858	Thompson et al., 2013	DNA	SEQ	MLH1_00068	-	-	-
?/?	1	c.37G>C	-	p.E13Q	13.2	0.935	0.6548	Thompson et al., 2013	DNA	SEQ	MLH1_00069	-	-	-
?/?	1	c.38A>C	-	p.E13A	24.45	0.995	0.9085	Thompson et al., 2013	DNA	SEQ	MLH1_00070	-	-	-
?/?	1	c.38A>G	-	p.E13G	28.23	0.996	0.9325	Thompson et al., 2013	DNA	SEQ	MLH1_00071	-	-	-
?/?	1	c.38A>T	-	p.E13V	31.34	0.996	0.946	Thompson et al., 2013	DNA	SEQ	MLH1_00072	-	-	-
?/?	1	c.39G>C	-	p.E13D	13.31	0.995	0.7139	Thompson et al., 2013	DNA	SEQ	MLH1_00073	-	-	-
?/?	1	c.39G>T	-	p.E13D	13.31	0.995	0.7139	Thompson et al., 2013	DNA	SEQ	MLH1_00074	-	-	-
?/?	1	c.40A>C	-	p.T14P	8.87	0.597	0.1542	Thompson et al., 2013	DNA	SEQ	MLH1_00075	-	-	-
?/?	1	c.40A>G	-	p.T14A	6.61	0.049	0.009	Thompson et al., 2013	DNA	SEQ	MLH1_00076	-	-	-
?/?	1	c.40A>T	-	p.T14S	1.57	0.371	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_00077	-	-	-
?/?	1	c.41C>A	-	p.T14K	6.35	0.042	0.008	Thompson et al., 2013	DNA	SEQ	MLH1_00078	-	-	-
?/?	1	c.41C>G	-	p.T14R	7.31	0.597	0.1052	Thompson et al., 2013	DNA	SEQ	MLH1_00079	-	-	-
?/?	1	c.41C>T	-	p.T14I	6.97	0.132	0.0143	Thompson et al., 2013	DNA	SEQ	MLH1_00080	-	-	-
?/?	1	c.43G>A	-	p.V15M	24.43	0.998	0.9094	Thompson et al., 2013	DNA	SEQ	MLH1_00081	-	-	-
?/?	1	c.43G>C	-	p.V15L	20.81	0.994	0.8727	Thompson et al., 2013	DNA	SEQ	MLH1_00082	-	-	-
?/?	1	c.43G>T	-	p.V15L	20.81	0.994	0.8727	Thompson et al., 2013	DNA	SEQ	MLH1_00083	-	-	-
?/?	1	c.44T>A	-	p.V15E	32.45	0.998	0.9503	Thompson et al., 2013	DNA	SEQ	MLH1_00084	-	-	-
?/?	1	c.44T>C	-	p.V15A	27.75	0.997	0.9303	Thompson et al., 2013	DNA	SEQ	MLH1_00085	-	-	-
?/?	1	c.44T>G	-	p.V15G	23.22	0.998	0.8994	Thompson et al., 2013	DNA	SEQ	MLH1_00086	-	-	-
?/?	1	c.46G>A	-	p.V16M	24.43	0.986	0.9051	Thompson et al., 2013	DNA	SEQ	MLH1_00087	-	-	-
?/?	1	c.46G>C	-	p.V16L	20.81	0.896	0.8187	Thompson et al., 2013	DNA	SEQ	MLH1_00088	-	-	-
?/?	1	c.46G>T	-	p.V16L	20.81	0.896	0.8187	Thompson et al., 2013	DNA	SEQ	MLH1_00089	-	-	-
?/?	1	c.47T>A	-	p.V16E	32.45	0.989	0.9484	Thompson et al., 2013	DNA	SEQ	MLH1_00090	-	-	-
?/?	1	c.47T>C	-	p.V16A	27.75	0.973	0.9233	Thompson et al., 2013	DNA	SEQ	MLH1_00091	-	-	-
?/?	1	c.47T>G	-	p.V16G	23.22	0.989	0.8959	Thompson et al., 2013	DNA	SEQ	MLH1_00092	-	-	-
?/?	1	c.49A>C	-	p.N17H	14.29	0.999	0.7489	Thompson et al., 2013	DNA	SEQ	MLH1_00093	-	-	-
?/?	1	c.49A>G	-	p.N17D	29.27	0.999	0.9382	Thompson et al., 2013	DNA	SEQ	MLH1_00094	-	-	-
?/?	1	c.49A>T	-	p.N17Y	20.2	0.999	0.8675	Thompson et al., 2013	DNA	SEQ	MLH1_00095	-	-	-
?/?	1	c.50A>C	-	p.N17T	16.73	0.999	0.8101	Thompson et al., 2013	DNA	SEQ	MLH1_00096	-	-	-
?/?	1	c.50A>G	-	p.N17S	13.4	0.999	0.7205	Thompson et al., 2013	DNA	SEQ	MLH1_00097	-	-	-
?/?	1	c.50A>T	-	p.N17I	22.05	0.999	0.8887	Thompson et al., 2013	DNA	SEQ	MLH1_00098	-	-	-
?/?	1	c.51C>A	-	p.N17K	25.31	0.999	0.9161	Thompson et al., 2013	DNA	SEQ	MLH1_00099	-	-	-
?/?	1	c.51C>G	-	p.N17K	25.31	0.999	0.9161	Thompson et al., 2013	DNA	SEQ	MLH1_00100	-	-	-

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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)