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


?/?	19	c.2231C>T	-	p.A744V	35.49	0.292	0.5365	Thompson et al., 2013	DNA	SEQ	MLH1_04901	-	-	-
?/?	19	c.2233A>C	-	p.N745H	11.86	0.763	0.4169	Thompson et al., 2013	DNA	SEQ	MLH1_04902	-	-	-
?/?	19	c.2233A>G	-	p.N745D	24.47	0.023	0.1366	Thompson et al., 2013	DNA	SEQ	MLH1_04903	-	-	-
?/?	19	c.2233A>T	-	p.N745Y	10.34	0.842	0.423	Thompson et al., 2013	DNA	SEQ	MLH1_04904	-	-	-
?/?	19	c.2234A>C	-	p.N745T	7.44	0.396	0.0494	Thompson et al., 2013	DNA	SEQ	MLH1_04905	-	-	-
?/?	19	c.2234A>G	-	p.N745S	5.75	0.04	0.0063	Thompson et al., 2013	DNA	SEQ	MLH1_04906	-	-	-
?/?	19	c.2234A>T	-	p.N745I	12.72	0.873	0.5725	Thompson et al., 2013	DNA	SEQ	MLH1_04907	-	-	-
?/?	19	c.2235C>A	-	p.N745K	25.14	0.64	0.6997	Thompson et al., 2013	DNA	SEQ	MLH1_04908	-	-	-
?/?	19	c.2235C>G	-	p.N745K	25.14	0.64	0.6997	Thompson et al., 2013	DNA	SEQ	MLH1_04909	-	-	-
?/?	19	c.2236C>A	-	p.L746M	10.65	0.998	0.6038	Thompson et al., 2013	DNA	SEQ	MLH1_04910	-	-	-
?/?	19	c.2236C>G	-	p.L746V	25.8	0.997	0.9188	Thompson et al., 2013	DNA	SEQ	MLH1_04911	-	-	-
?/?	19	c.2237T>A	-	p.L746Q	15.01	0.998	0.7686	Thompson et al., 2013	DNA	SEQ	MLH1_04912	-	-	-
?/?	19	c.2237T>C	-	p.L746P	36.32	0.998	0.9611	Thompson et al., 2013	DNA	SEQ	MLH1_04913	-	-	-
?/?	19	c.2237T>G	-	p.L746R	33.02	0.998	0.9521	Thompson et al., 2013	DNA	SEQ	MLH1_04914	-	-	-
?/?	19	c.2239C>A	-	p.P747T	2.77	0.292	0.0035	Thompson et al., 2013	DNA	SEQ	MLH1_04915	-	-	-
?/?	19	c.2239C>G	-	p.P747A	12.08	0.901	0.573	Thompson et al., 2013	DNA	SEQ	MLH1_04916	-	-	-
?/?	19	c.2239C>T	-	p.P747S	7.53	0.872	0.2886	Thompson et al., 2013	DNA	SEQ	MLH1_04917	-	-	-
?/?	19	c.2240C>A	-	p.P747H	12.56	0.968	0.661	Thompson et al., 2013	DNA	SEQ	MLH1_04918	-	-	-
?/?	19	c.2240C>G	-	p.P747R	31.52	0.932	0.9311	Thompson et al., 2013	DNA	SEQ	MLH1_04919	-	-	-
?/?	19	c.2240C>T	-	p.P747L	25.57	0.958	0.9037	Thompson et al., 2013	DNA	SEQ	MLH1_04920	-	-	-
?/?	19	c.2242G>A	-	p.D748N	14.1	0.276	0.1174	Thompson et al., 2013	DNA	SEQ	MLH1_04921	-	-	-
?/?	19	c.2242G>C	-	p.D748H	18.66	0.958	0.8211	Thompson et al., 2013	DNA	SEQ	MLH1_04922	-	-	-
?/?	19	c.2242G>T	-	p.D748Y	15.01	0.932	0.7149	Thompson et al., 2013	DNA	SEQ	MLH1_04923	-	-	-
?/?	19	c.2243A>C	-	p.D748A	22.12	0.805	0.7787	Thompson et al., 2013	DNA	SEQ	MLH1_04924	-	-	-
?/?	19	c.2243A>G	-	p.D748G	18.49	0.805	0.7009	Thompson et al., 2013	DNA	SEQ	MLH1_04925	-	-	-
?/?	19	c.2243A>T	-	p.D748V	23.52	0.862	0.8376	Thompson et al., 2013	DNA	SEQ	MLH1_04926	-	-	-
?/?	19	c.2244T>A	-	p.D748E	4.6	0.096	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_04927	-	-	-
?/?	19	c.2244T>G	-	p.D748E	4.6	0.096	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_04928	-	-	-
?/?	19	c.2245C>A	-	p.L749I	15.46	0.997	0.7796	Thompson et al., 2013	DNA	SEQ	MLH1_04929	-	-	-
?/?	19	c.2245C>G	-	p.L749V	25.8	0.997	0.9188	Thompson et al., 2013	DNA	SEQ	MLH1_04930	-	-	-
?/?	19	c.2246T>A	-	p.L749Q	15.01	0.998	0.7686	Thompson et al., 2013	DNA	SEQ	MLH1_04931	-	-	-
?/?	19	c.2246T>C	-	p.L749P	36.32	0.998	0.9611	Thompson et al., 2013	DNA	SEQ	MLH1_04932	-	-	-
?/?	19	c.2246T>G	-	p.L749R	33.02	0.998	0.9521	Thompson et al., 2013	DNA	SEQ	MLH1_04933	-	-	-
?/?	19	c.2248T>A	-	p.Y750N	17.86	0.934	0.7896	Thompson et al., 2013	DNA	SEQ	MLH1_04934	-	-	-
?/?	19	c.2248T>C	-	p.Y750H	16.52	0.934	0.7586	Thompson et al., 2013	DNA	SEQ	MLH1_04935	-	-	-
?/?	19	c.2248T>G	-	p.Y750D	35.81	0.934	0.9479	Thompson et al., 2013	DNA	SEQ	MLH1_04936	-	-	-
?/?	19	c.2249A>C	-	p.Y750S	18.59	0.794	0.6936	Thompson et al., 2013	DNA	SEQ	MLH1_04937	-	-	-
?/?	19	c.2249A>G	-	p.Y750C	23.02	0.169	0.2042	Thompson et al., 2013	DNA	SEQ	MLH1_04938	-	-	-
?/?	19	c.2249A>T	-	p.Y750F	22.82	0.887	0.8427	Thompson et al., 2013	DNA	SEQ	MLH1_04939	-	-	-
?/?	19	c.2251A>C	-	p.K751Q	11.6	0.718	0.3595	Thompson et al., 2013	DNA	SEQ	MLH1_04940	-	-	-
?/?	19	c.2251A>G	-	p.K751E	21.29	0.649	0.6241	Thompson et al., 2013	DNA	SEQ	MLH1_04941	-	-	-
?/?	19	c.2252A>C	-	p.K751T	24.98	0.808	0.8245	Thompson et al., 2013	DNA	SEQ	MLH1_04942	-	-	-
?/?	19	c.2252A>G	-	p.K751R	4.57	0.071	0.0043	Thompson et al., 2013	DNA	SEQ	MLH1_04943	-	-	-
?/?	19	c.2252A>T	-	p.K751I	27.34	0.847	0.8719	Thompson et al., 2013	DNA	SEQ	MLH1_04944	-	-	-
?/?	19	c.2253A>C	-	p.K751N	13.23	0.718	0.4307	Thompson et al., 2013	DNA	SEQ	MLH1_04945	-	-	-
?/?	19	c.2253A>T	-	p.K751N	13.23	0.718	0.4307	Thompson et al., 2013	DNA	SEQ	MLH1_04946	-	-	-
?/?	19	c.2254G>A	-	p.V752I	11.96	0.994	0.661	Thompson et al., 2013	DNA	SEQ	MLH1_04947	-	-	-
?/?	19	c.2254G>C	-	p.V752L	20.81	0.994	0.8727	Thompson et al., 2013	DNA	SEQ	MLH1_04948	-	-	-
?/?	19	c.2254G>T	-	p.V752F	21.09	0.998	0.8779	Thompson et al., 2013	DNA	SEQ	MLH1_04949	-	-	-
?/?	19	c.2255T>A	-	p.V752D	33.13	0.998	0.9525	Thompson et al., 2013	DNA	SEQ	MLH1_04950	-	-	-
?/?	19	c.2255T>C	-	p.V752A	27.75	0.994	0.9294	Thompson et al., 2013	DNA	SEQ	MLH1_04951	-	-	-
?/?	19	c.2255T>G	-	p.V752G	23.22	0.997	0.899	Thompson et al., 2013	DNA	SEQ	MLH1_04952	-	-	-
?/?	19	c.2257T>A	-	p.F753I	10.86	0.997	0.6133	Thompson et al., 2013	DNA	SEQ	MLH1_04953	-	-	-
?/?	19	c.2257T>C	-	p.F753L	12.82	0.994	0.6953	Thompson et al., 2013	DNA	SEQ	MLH1_04954	-	-	-
?/?	19	c.2257T>G	-	p.F753V	17.61	0.997	0.8262	Thompson et al., 2013	DNA	SEQ	MLH1_04955	-	-	-
?/?	19	c.2258T>A	-	p.F753Y	16.28	0.997	0.7991	Thompson et al., 2013	DNA	SEQ	MLH1_04956	-	-	-
?/?	19	c.2258T>C	-	p.F753S	19.43	0.997	0.8559	Thompson et al., 2013	DNA	SEQ	MLH1_04957	-	-	-
?/?	19	c.2258T>G	-	p.F753C	17.91	0.999	0.8328	Thompson et al., 2013	DNA	SEQ	MLH1_04958	-	-	-
?/?	19	c.2259T>A	-	p.F753L	12.82	0.994	0.6953	Thompson et al., 2013	DNA	SEQ	MLH1_04959	-	-	-
?/?	19	c.2259T>G	-	p.F753L	12.82	0.994	0.6953	Thompson et al., 2013	DNA	SEQ	MLH1_04960	-	-	-
?/?	19	c.2260G>A	-	p.E754K	19.98	0.997	0.8636	Thompson et al., 2013	DNA	SEQ	MLH1_04961	-	-	-
?/?	19	c.2260G>C	-	p.E754Q	13.2	0.997	0.7118	Thompson et al., 2013	DNA	SEQ	MLH1_04962	-	-	-
?/?	19	c.2261A>C	-	p.E754A	24.45	0.997	0.9092	Thompson et al., 2013	DNA	SEQ	MLH1_04963	-	-	-
?/?	19	c.2261A>G	-	p.E754G	28.23	0.997	0.9328	Thompson et al., 2013	DNA	SEQ	MLH1_04964	-	-	-
?/?	19	c.2261A>T	-	p.E754V	31.34	0.997	0.9462	Thompson et al., 2013	DNA	SEQ	MLH1_04965	-	-	-
?/?	19	c.2262G>C	-	p.E754D	13.31	0.994	0.7131	Thompson et al., 2013	DNA	SEQ	MLH1_04966	-	-	-
?/?	19	c.2262G>T	-	p.E754D	13.31	0.994	0.7131	Thompson et al., 2013	DNA	SEQ	MLH1_04967	-	-	-
?/?	19	c.2263A>G	-	p.R755G	25.9	0.999	0.92	Thompson et al., 2013	DNA	SEQ	MLH1_04968	-	-	-
?/?	19	c.2263A>T	-	p.R755W	22.31	0.999	0.8913	Thompson et al., 2013	DNA	SEQ	MLH1_04969	-	-	-
?/?	19	c.2264G>A	-	p.R755K	6.07	0.994	0.2949	Thompson et al., 2013	DNA	SEQ	MLH1_04970	-	-	-
?/?	19	c.2264G>C	-	p.R755T	26.48	0.997	0.9231	Thompson et al., 2013	DNA	SEQ	MLH1_04971	-	-	-
?/?	19	c.2264G>T	-	p.R755M	15.78	0.998	0.7882	Thompson et al., 2013	DNA	SEQ	MLH1_04972	-	-	-
?/?	19	c.2265G>C	-	p.R755S	21.57	0.999	0.8837	Thompson et al., 2013	DNA	SEQ	MLH1_04973	-	-	-
?/?	19	c.2265G>T	-	p.R755S	21.57	0.999	0.8837	Thompson et al., 2013	DNA	SEQ	MLH1_04974	-	-	-
?/?	19	c.2266T>A	-	p.C756S	14.04	0.997	0.7397	Thompson et al., 2013	DNA	SEQ	MLH1_04975	-	-	-
?/?	19	c.2266T>C	-	p.C756R	34.86	0.998	0.9574	Thompson et al., 2013	DNA	SEQ	MLH1_04976	-	-	-
?/?	19	c.2266T>G	-	p.C756G	15.41	0.997	0.7783	Thompson et al., 2013	DNA	SEQ	MLH1_04977	-	-	-
?/?	19	c.2267G>A	-	p.C756Y	21.23	0.998	0.8795	Thompson et al., 2013	DNA	SEQ	MLH1_04978	-	-	-
?/?	19	c.2267G>C	-	p.C756S	14.04	0.997	0.7397	Thompson et al., 2013	DNA	SEQ	MLH1_04979	-	-	-
?/?	19	c.2267G>T	-	p.C756F	21.32	0.998	0.8805	Thompson et al., 2013	DNA	SEQ	MLH1_04980	-	-	-
?/?	19	c.2268T>G	-	p.C756W	32.95	0.999	0.9521	Thompson et al., 2013	DNA	SEQ	MLH1_04981	-	-	-

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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)