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.919G>A	-	p.V307M	24.43	0.915	0.8757	Thompson et al., 2013	DNA	SEQ	MLH1_01641	-	-	-
?/?	11	c.919G>C	-	p.V307L	20.81	0.964	0.8578	Thompson et al., 2013	DNA	SEQ	MLH1_01642	-	-	-
?/?	11	c.919G>T	-	p.V307L	20.81	0.964	0.8578	Thompson et al., 2013	DNA	SEQ	MLH1_01643	-	-	-
?/?	11	c.920T>A	-	p.V307E	32.45	0.996	0.9499	Thompson et al., 2013	DNA	SEQ	MLH1_01644	-	-	-
?/?	11	c.920T>C	-	p.V307A	27.75	0.991	0.9286	Thompson et al., 2013	DNA	SEQ	MLH1_01645	-	-	-
?/?	11	c.920T>G	-	p.V307G	23.22	0.996	0.8986	Thompson et al., 2013	DNA	SEQ	MLH1_01646	-	-	-
?/?	11	c.922C>A	-	p.H308N	17.77	0.999	0.8303	Thompson et al., 2013	DNA	SEQ	MLH1_01647	-	-	-
?/?	11	c.922C>G	-	p.H308D	36.64	0.999	0.962	Thompson et al., 2013	DNA	SEQ	MLH1_01648	-	-	-
?/?	11	c.922C>T	-	p.H308Y	18.27	0.999	0.839	Thompson et al., 2013	DNA	SEQ	MLH1_01649	-	-	-
?/?	11	c.923A>C	-	p.H308P	43.5	0.999	0.9739	Thompson et al., 2013	DNA	SEQ	MLH1_01650	-	-	-
?/?	11	c.923A>G	-	p.H308R	31.55	0.999	0.9474	Thompson et al., 2013	DNA	SEQ	MLH1_01651	-	-	-
?/?	11	c.923A>T	-	p.H308L	25.24	0.999	0.9156	Thompson et al., 2013	DNA	SEQ	MLH1_01652	-	-	-
?/?	11	c.924C>A	-	p.H308Q	14.29	0.999	0.7489	Thompson et al., 2013	DNA	SEQ	MLH1_01653	-	-	-
?/?	11	c.924C>G	-	p.H308Q	14.29	0.999	0.7489	Thompson et al., 2013	DNA	SEQ	MLH1_01654	-	-	-
?/?	11	c.925C>A	-	p.P309T	17.77	1	0.8309	Thompson et al., 2013	DNA	SEQ	MLH1_01655	-	-	-
?/?	11	c.925C>G	-	p.P309A	20	1	0.8653	Thompson et al., 2013	DNA	SEQ	MLH1_01656	-	-	-
?/?	11	c.925C>T	-	p.P309S	17.5	1	0.826	Thompson et al., 2013	DNA	SEQ	MLH1_01657	-	-	-
?/?	11	c.926C>A	-	p.P309H	19.31	1	0.8558	Thompson et al., 2013	DNA	SEQ	MLH1_01658	-	-	-
?/?	11	c.926C>G	-	p.P309R	41.48	1	0.9711	Thompson et al., 2013	DNA	SEQ	MLH1_01659	-	-	-
?/?	11	c.926C>T	-	p.P309L	26.92	1	0.9265	Thompson et al., 2013	DNA	SEQ	MLH1_01660	-	-	-
?/?	11	c.928A>C	-	p.T310P	43.72	1	0.9743	Thompson et al., 2013	DNA	SEQ	MLH1_01661	-	-	-
?/?	11	c.928A>G	-	p.T310A	37.99	0.999	0.9649	Thompson et al., 2013	DNA	SEQ	MLH1_01662	-	-	-
?/?	11	c.928A>T	-	p.T310S	11.33	0.999	0.6379	Thompson et al., 2013	DNA	SEQ	MLH1_01663	-	-	-
?/?	11	c.929C>A	-	p.T310K	34.43	1	0.9566	Thompson et al., 2013	DNA	SEQ	MLH1_01664	-	-	-
?/?	11	c.929C>G	-	p.T310R	37.76	1	0.9645	Thompson et al., 2013	DNA	SEQ	MLH1_01665	-	-	-
?/?	11	c.929C>T	-	p.T310I	33.48	1	0.9539	Thompson et al., 2013	DNA	SEQ	MLH1_01666	-	-	-
?/?	11	c.931A>C	-	p.K311Q	14.08	1	0.7434	Thompson et al., 2013	DNA	SEQ	MLH1_01667	-	-	-
?/?	11	c.931A>G	-	p.K311E	23.7	0.999	0.9039	Thompson et al., 2013	DNA	SEQ	MLH1_01668	-	-	-
?/?	11	c.932A>C	-	p.K311T	27.99	1	0.9323	Thompson et al., 2013	DNA	SEQ	MLH1_01669	-	-	-
?/?	11	c.932A>G	-	p.K311R	7.31	0.999	0.3944	Thompson et al., 2013	DNA	SEQ	MLH1_01670	-	-	-
?/?	11	c.932A>T	-	p.K311M	17.24	1	0.821	Thompson et al., 2013	DNA	SEQ	MLH1_01671	-	-	-
?/?	11	c.933G>C	-	p.K311N	14.55	1	0.7573	Thompson et al., 2013	DNA	SEQ	MLH1_01672	-	-	-
?/?	11	c.933G>T	-	p.K311N	14.55	1	0.7573	Thompson et al., 2013	DNA	SEQ	MLH1_01673	-	-	-
?/?	11	c.934C>A	-	p.H312N	17.77	0.697	0.5747	Thompson et al., 2013	DNA	SEQ	MLH1_01674	-	-	-
?/?	11	c.934C>G	-	p.H312D	36.64	0.942	0.952	Thompson et al., 2013	DNA	SEQ	MLH1_01675	-	-	-
?/?	11	c.934C>T	-	p.H312Y	18.27	0.4	0.2888	Thompson et al., 2013	DNA	SEQ	MLH1_01676	-	-	-
?/?	11	c.935A>C	-	p.H312P	43.5	0.984	0.9722	Thompson et al., 2013	DNA	SEQ	MLH1_01677	-	-	-
?/?	11	c.935A>G	-	p.H312R	31.55	0.942	0.9339	Thompson et al., 2013	DNA	SEQ	MLH1_01678	-	-	-
?/?	11	c.935A>T	-	p.H312L	25.24	0.984	0.9106	Thompson et al., 2013	DNA	SEQ	MLH1_01679	-	-	-
?/?	11	c.936T>A	-	p.H312Q	14.29	0.957	0.7138	Thompson et al., 2013	DNA	SEQ	MLH1_01680	-	-	-
?/?	11	c.936T>G	-	p.H312Q	14.29	0.957	0.7138	Thompson et al., 2013	DNA	SEQ	MLH1_01681	-	-	-
?/?	11	c.937G>A	-	p.E313K	19.98	0.999	0.8646	Thompson et al., 2013	DNA	SEQ	MLH1_01682	-	-	-
?/?	11	c.937G>C	-	p.E313Q	13.2	1	0.7144	Thompson et al., 2013	DNA	SEQ	MLH1_01683	-	-	-
?/?	11	c.938A>C	-	p.E313A	24.45	0.999	0.9099	Thompson et al., 2013	DNA	SEQ	MLH1_01684	-	-	-
?/?	11	c.938A>G	-	p.E313G	28.23	1	0.9336	Thompson et al., 2013	DNA	SEQ	MLH1_01685	-	-	-
?/?	11	c.938A>T	-	p.E313V	31.34	1	0.9468	Thompson et al., 2013	DNA	SEQ	MLH1_01686	-	-	-
?/?	11	c.939A>C	-	p.E313D	13.31	0.999	0.7174	Thompson et al., 2013	DNA	SEQ	MLH1_01687	-	-	-
?/?	11	c.939A>T	-	p.E313D	13.31	0.999	0.7174	Thompson et al., 2013	DNA	SEQ	MLH1_01688	-	-	-
?/?	11	c.940G>A	-	p.V314I	11.96	0.997	0.6638	Thompson et al., 2013	DNA	SEQ	MLH1_01689	-	-	-
?/?	11	c.940G>C	-	p.V314L	20.81	0.997	0.8741	Thompson et al., 2013	DNA	SEQ	MLH1_01690	-	-	-
?/?	11	c.940G>T	-	p.V314F	21.09	0.999	0.8783	Thompson et al., 2013	DNA	SEQ	MLH1_01691	-	-	-
?/?	11	c.941T>A	-	p.V314D	33.13	0.999	0.9527	Thompson et al., 2013	DNA	SEQ	MLH1_01692	-	-	-
?/?	11	c.941T>C	-	p.V314A	27.75	0.999	0.9308	Thompson et al., 2013	DNA	SEQ	MLH1_01693	-	-	-
?/?	11	c.941T>G	-	p.V314G	23.22	0.999	0.8998	Thompson et al., 2013	DNA	SEQ	MLH1_01694	-	-	-
?/?	11	c.943C>A	-	p.H315N	17.77	0.902	0.764	Thompson et al., 2013	DNA	SEQ	MLH1_01695	-	-	-
?/?	11	c.943C>G	-	p.H315D	36.64	0.944	0.9524	Thompson et al., 2013	DNA	SEQ	MLH1_01696	-	-	-
?/?	11	c.943C>T	-	p.H315Y	18.27	0.966	0.8191	Thompson et al., 2013	DNA	SEQ	MLH1_01697	-	-	-
?/?	11	c.944A>C	-	p.H315P	43.5	0.959	0.9692	Thompson et al., 2013	DNA	SEQ	MLH1_01698	-	-	-
?/?	11	c.944A>G	-	p.H315R	31.55	0.326	0.506	Thompson et al., 2013	DNA	SEQ	MLH1_01699	-	-	-
?/?	11	c.944A>T	-	p.H315L	25.24	0.944	0.8957	Thompson et al., 2013	DNA	SEQ	MLH1_01700	-	-	-
?/?	11	c.945C>A	-	p.H315Q	14.29	0.589	0.3422	Thompson et al., 2013	DNA	SEQ	MLH1_01701	-	-	-
?/?	11	c.945C>G	-	p.H315Q	14.29	0.589	0.3422	Thompson et al., 2013	DNA	SEQ	MLH1_01702	-	-	-
?/?	11	c.946T>A	-	p.F316I	10.86	0.999	0.6154	Thompson et al., 2013	DNA	SEQ	MLH1_01703	-	-	-
?/?	11	c.946T>C	-	p.F316L	12.82	0.999	0.6998	Thompson et al., 2013	DNA	SEQ	MLH1_01704	-	-	-
?/?	11	c.946T>G	-	p.F316V	17.61	0.999	0.8274	Thompson et al., 2013	DNA	SEQ	MLH1_01705	-	-	-
?/?	11	c.947T>A	-	p.F316Y	16.28	0.999	0.8004	Thompson et al., 2013	DNA	SEQ	MLH1_01706	-	-	-
?/?	11	c.947T>C	-	p.F316S	19.43	0.999	0.857	Thompson et al., 2013	DNA	SEQ	MLH1_01707	-	-	-
?/?	11	c.947T>G	-	p.F316C	17.91	1	0.8334	Thompson et al., 2013	DNA	SEQ	MLH1_01708	-	-	-
?/?	11	c.948C>A	-	p.F316L	12.82	0.999	0.6998	Thompson et al., 2013	DNA	SEQ	MLH1_01709	-	-	-
?/?	11	c.948C>G	-	p.F316L	12.82	0.999	0.6998	Thompson et al., 2013	DNA	SEQ	MLH1_01710	-	-	-
?/?	11	c.949C>A	-	p.L317M	10.65	1	0.6058	Thompson et al., 2013	DNA	SEQ	MLH1_01711	-	-	-
?/?	11	c.949C>G	-	p.L317V	25.8	0.999	0.9194	Thompson et al., 2013	DNA	SEQ	MLH1_01712	-	-	-
?/?	11	c.950T>A	-	p.L317Q	15.01	1	0.7701	Thompson et al., 2013	DNA	SEQ	MLH1_01713	-	-	-
?/?	11	c.950T>C	-	p.L317P	36.32	1	0.9614	Thompson et al., 2013	DNA	SEQ	MLH1_01714	-	-	-
?/?	11	c.950T>G	-	p.L317R	33.02	1	0.9525	Thompson et al., 2013	DNA	SEQ	MLH1_01715	-	-	-
?/?	11	c.952C>A	-	p.H318N	17.77	0.697	0.5747	Thompson et al., 2013	DNA	SEQ	MLH1_01716	-	-	-
?/?	11	c.952C>G	-	p.H318D	36.64	0.942	0.952	Thompson et al., 2013	DNA	SEQ	MLH1_01717	-	-	-
?/?	11	c.952C>T	-	p.H318Y	18.27	0.4	0.2888	Thompson et al., 2013	DNA	SEQ	MLH1_01718	-	-	-
?/?	11	c.953A>C	-	p.H318P	43.5	0.988	0.9727	Thompson et al., 2013	DNA	SEQ	MLH1_01719	-	-	-
?/?	11	c.953A>G	-	p.H318R	31.55	0.984	0.9441	Thompson et al., 2013	DNA	SEQ	MLH1_01720	-	-	-
?/?	11	c.953A>T	-	p.H318L	25.24	0.984	0.9106	Thompson et al., 2013	DNA	SEQ	MLH1_01721	-	-	-
?/?	11	c.954C>A	-	p.H318Q	14.29	0.984	0.7367	Thompson et al., 2013	DNA	SEQ	MLH1_01722	-	-	-
?/?	11	c.954C>G	-	p.H318Q	14.29	0.984	0.7367	Thompson et al., 2013	DNA	SEQ	MLH1_01723	-	-	-
?/?	11	c.955G>A	-	p.E319K	19.98	0.832	0.7581	Thompson et al., 2013	DNA	SEQ	MLH1_01724	-	-	-
?/?	11	c.955G>C	-	p.E319Q	13.2	0.412	0.1697	Thompson et al., 2013	DNA	SEQ	MLH1_01725	-	-	-
?/?	11	c.956A>C	-	p.E319A	24.45	0.892	0.8649	Thompson et al., 2013	DNA	SEQ	MLH1_01726	-	-	-
?/?	11	c.956A>G	-	p.E319G	28.23	0.872	0.8906	Thompson et al., 2013	DNA	SEQ	MLH1_01727	-	-	-
?/?	11	c.956A>T	-	p.E319V	31.34	0.919	0.9265	Thompson et al., 2013	DNA	SEQ	MLH1_01728	-	-	-
?/?	11	c.957G>C	-	p.E319D	13.31	0.169	0.0689	Thompson et al., 2013	DNA	SEQ	MLH1_01729	-	-	-
?/?	11	c.957G>T	-	p.E319D	13.31	0.169	0.0689	Thompson et al., 2013	DNA	SEQ	MLH1_01730	-	-	-
?/?	11	c.958G>A	-	p.E320K	18.42	0.336	0.2396	Thompson et al., 2013	DNA	SEQ	MLH1_01731	-	-	-
?/?	11	c.958G>C	-	p.E320Q	14.69	0.606	0.3732	Thompson et al., 2013	DNA	SEQ	MLH1_01732	-	-	-
?/?	11	c.959A>C	-	p.E320A	22.37	0.457	0.4505	Thompson et al., 2013	DNA	SEQ	MLH1_01733	-	-	-
?/?	11	c.959A>G	-	p.E320G	18.14	0.255	0.1773	Thompson et al., 2013	DNA	SEQ	MLH1_01734	-	-	-
?/?	11	c.959A>T	-	p.E320V	24.89	0.606	0.6634	Thompson et al., 2013	DNA	SEQ	MLH1_01735	-	-	-
?/?	11	c.960G>C	-	p.E320D	1.01	0.007	0.0001	Thompson et al., 2013	DNA	SEQ	MLH1_01736	-	-	-
?/?	11	c.960G>T	-	p.E320D	1.01	0.007	0.0001	Thompson et al., 2013	DNA	SEQ	MLH1_01737	-	-	-
?/?	11	c.961A>C	-	p.S321R	6.4	0.395	0.0355	Thompson et al., 2013	DNA	SEQ	MLH1_01738	-	-	-
?/?	11	c.961A>G	-	p.S321G	2.34	0.269	0.0022	Thompson et al., 2013	DNA	SEQ	MLH1_01739	-	-	-
?/?	11	c.961A>T	-	p.S321C	2.59	0.761	0.0219	Thompson et al., 2013	DNA	SEQ	MLH1_01740	-	-	-

2001 - 2100
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Click here to save this list in a tab-delimited text file.

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)