Full database search - 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.

About this overview [Show]

The variants below are all in the MLH1_priors database, matching your query. 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


?/?	6	c.506C>A	-	p.P169Q	8.94	0.961	0.4666	Thompson et al., 2013	DNA	SEQ	MLH1_01101	-	-	-
?/?	6	c.506C>G	-	p.P169R	32.22	0.976	0.9448	Thompson et al., 2013	DNA	SEQ	MLH1_01102	-	-	-
?/?	6	c.506C>T	-	p.P169L	6.45	0.89	0.2356	Thompson et al., 2013	DNA	SEQ	MLH1_01103	-	-	-
?/?	6	c.508A>C	-	p.S170R	37.1	0.6	0.8262	Thompson et al., 2013	DNA	SEQ	MLH1_01104	-	-	-
?/?	6	c.508A>G	-	p.S170G	3.45	0.012	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_01105	-	-	-
?/?	6	c.508A>T	-	p.S170C	15.75	0.73	0.5419	Thompson et al., 2013	DNA	SEQ	MLH1_01106	-	-	-
?/?	6	c.509G>A	-	p.S170N	11.16	0.012	0.0248	Thompson et al., 2013	DNA	SEQ	MLH1_01107	-	-	-
?/?	6	c.509G>C	-	p.S170T	6.54	0.036	0.0083	Thompson et al., 2013	DNA	SEQ	MLH1_01108	-	-	-
?/?	6	c.509G>T	-	p.S170I	25.15	0.673	0.7286	Thompson et al., 2013	DNA	SEQ	MLH1_01109	-	-	-
?/?	6	c.510T>A	-	p.S170R	37.1	0.6	0.8262	Thompson et al., 2013	DNA	SEQ	MLH1_01110	-	-	-
?/?	6	c.510T>G	-	p.S170R	37.1	0.6	0.8262	Thompson et al., 2013	DNA	SEQ	MLH1_01111	-	-	-
?/?	6	c.511G>A	-	p.E171K	19.98	0.924	0.8226	Thompson et al., 2013	DNA	SEQ	MLH1_01112	-	-	-
?/?	6	c.511G>C	-	p.E171Q	13.2	0.965	0.6831	Thompson et al., 2013	DNA	SEQ	MLH1_01113	-	-	-
?/?	6	c.512A>C	-	p.E171A	24.45	0.971	0.8996	Thompson et al., 2013	DNA	SEQ	MLH1_01114	-	-	-
?/?	6	c.512A>G	-	p.E171G	28.23	0.943	0.9168	Thompson et al., 2013	DNA	SEQ	MLH1_01115	-	-	-
?/?	6	c.512A>T	-	p.E171V	31.34	0.979	0.9422	Thompson et al., 2013	DNA	SEQ	MLH1_01116	-	-	-
?/?	6	c.513A>C	-	p.E171D	13.31	0.221	0.0845	Thompson et al., 2013	DNA	SEQ	MLH1_01117	-	-	-
?/?	6	c.513A>T	-	p.E171D	13.31	0.221	0.0845	Thompson et al., 2013	DNA	SEQ	MLH1_01118	-	-	-
?/?	6	c.514G>A	-	p.E172K	19.98	0.999	0.8646	Thompson et al., 2013	DNA	SEQ	MLH1_01119	-	-	-
?/?	6	c.514G>C	-	p.E172Q	13.2	0.999	0.7136	Thompson et al., 2013	DNA	SEQ	MLH1_01120	-	-	-
?/?	6	c.515A>C	-	p.E172A	24.45	0.999	0.9099	Thompson et al., 2013	DNA	SEQ	MLH1_01121	-	-	-
?/?	6	c.515A>G	-	p.E172G	28.23	0.999	0.9333	Thompson et al., 2013	DNA	SEQ	MLH1_01122	-	-	-
?/?	6	c.515A>T	-	p.E172V	31.34	0.999	0.9466	Thompson et al., 2013	DNA	SEQ	MLH1_01123	-	-	-
?/?	6	c.516A>C	-	p.E172D	13.31	0.999	0.7174	Thompson et al., 2013	DNA	SEQ	MLH1_01124	-	-	-
?/?	6	c.516A>T	-	p.E172D	13.31	0.999	0.7174	Thompson et al., 2013	DNA	SEQ	MLH1_01125	-	-	-
?/?	6	c.517T>A	-	p.Y173N	5.69	0.487	0.04	Thompson et al., 2013	DNA	SEQ	MLH1_01126	-	-	-
?/?	6	c.517T>C	-	p.Y173H	1.74	0.008	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_01127	-	-	-
?/?	6	c.517T>G	-	p.Y173D	13.07	0.616	0.3227	Thompson et al., 2013	DNA	SEQ	MLH1_01128	-	-	-
?/?	6	c.518A>C	-	p.Y173S	5.02	0.364	0.0182	Thompson et al., 2013	DNA	SEQ	MLH1_01129	-	-	-
?/?	6	c.518A>G	-	p.Y173C	6.84	0.632	0.105	Thompson et al., 2013	DNA	SEQ	MLH1_01130	-	-	-
?/?	6	c.518A>T	-	p.Y173F	8.38	0.008	0.0129	Thompson et al., 2013	DNA	SEQ	MLH1_01131	-	-	-
?/?	6	c.520G>A	-	p.G174R	22.73	0.112	0.1635	Thompson et al., 2013	DNA	SEQ	MLH1_01132	-	-	-
?/?	6	c.520G>C	-	p.G174R	22.73	0.112	0.1635	Thompson et al., 2013	DNA	SEQ	MLH1_01133	-	-	-
?/?	6	c.520G>T	-	p.G174W	8.05	0.511	0.0921	Thompson et al., 2013	DNA	SEQ	MLH1_01134	-	-	-
?/?	6	c.521G>A	-	p.G174E	25.01	0.041	0.1522	Thompson et al., 2013	DNA	SEQ	MLH1_01135	-	-	-
?/?	6	c.521G>C	-	p.G174A	2.97	0.003	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_01136	-	-	-
?/?	6	c.521G>T	-	p.G174V	12.45	0.041	0.0355	Thompson et al., 2013	DNA	SEQ	MLH1_01137	-	-	-
?/?	6	c.523A>C	-	p.K175Q	11.06	0.839	0.4575	Thompson et al., 2013	DNA	SEQ	MLH1_01138	-	-	-
?/?	6	c.523A>G	-	p.K175E	20.58	0.675	0.632	Thompson et al., 2013	DNA	SEQ	MLH1_01139	-	-	-
?/?	6	c.524A>C	-	p.K175T	23.78	0.863	0.8415	Thompson et al., 2013	DNA	SEQ	MLH1_01140	-	-	-
?/?	6	c.524A>G	-	p.K175R	3.68	0.048	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_01141	-	-	-
?/?	6	c.524A>T	-	p.K175I	27.12	0.951	0.9124	Thompson et al., 2013	DNA	SEQ	MLH1_01142	-	-	-
?/?	6	c.525A>C	-	p.K175N	12.89	0.897	0.6045	Thompson et al., 2013	DNA	SEQ	MLH1_01143	-	-	-
?/?	6	c.525A>T	-	p.K175N	12.89	0.897	0.6045	Thompson et al., 2013	DNA	SEQ	MLH1_01144	-	-	-
?/?	6	c.526A>C	-	p.I176L	10.24	0.279	0.0612	Thompson et al., 2013	DNA	SEQ	MLH1_01145	-	-	-
?/?	6	c.526A>G	-	p.I176V	4.66	0.073	0.0045	Thompson et al., 2013	DNA	SEQ	MLH1_01146	-	-	-
?/?	6	c.526A>T	-	p.I176F	8.76	0.918	0.4102	Thompson et al., 2013	DNA	SEQ	MLH1_01147	-	-	-
?/?	6	c.527T>A	-	p.I176N	15.22	0.976	0.7573	Thompson et al., 2013	DNA	SEQ	MLH1_01148	-	-	-
?/?	6	c.527T>C	-	p.I176T	13.79	0.846	0.5891	Thompson et al., 2013	DNA	SEQ	MLH1_01149	-	-	-
?/?	6	c.527T>G	-	p.I176S	13.16	0.918	0.6367	Thompson et al., 2013	DNA	SEQ	MLH1_01150	-	-	-
?/?	6	c.528T>G	-	p.I176M	14.77	0.909	0.6867	Thompson et al., 2013	DNA	SEQ	MLH1_01151	-	-	-
?/?	6	c.529T>A	-	p.L177M	4.65	0.248	0.0094	Thompson et al., 2013	DNA	SEQ	MLH1_01152	-	-	-
?/?	6	c.529T>G	-	p.L177V	2.07	0.001	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_01153	-	-	-
?/?	6	c.530T>C	-	p.L177S	3.3	0.005	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_01154	-	-	-
?/?	6	c.530T>G	-	p.L177W	4.79	0.516	0.0309	Thompson et al., 2013	DNA	SEQ	MLH1_01155	-	-	-
?/?	6	c.531G>C	-	p.L177F	3.9	0.262	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_01156	-	-	-
?/?	6	c.531G>T	-	p.L177F	3.9	0.262	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_01157	-	-	-
?/?	6	c.532G>A	-	p.E178K	18.35	0.634	0.5264	Thompson et al., 2013	DNA	SEQ	MLH1_01158	-	-	-
?/?	6	c.532G>C	-	p.E178Q	13.86	0.742	0.4822	Thompson et al., 2013	DNA	SEQ	MLH1_01159	-	-	-
?/?	6	c.533A>C	-	p.E178A	22.96	0.742	0.7455	Thompson et al., 2013	DNA	SEQ	MLH1_01160	-	-	-
?/?	6	c.533A>G	-	p.E178G	18.34	0.634	0.5261	Thompson et al., 2013	DNA	SEQ	MLH1_01161	-	-	-
?/?	6	c.533A>T	-	p.E178V	25.83	0.869	0.8679	Thompson et al., 2013	DNA	SEQ	MLH1_01162	-	-	-
?/?	6	c.534A>C	-	p.E178D	2.95	0.013	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_01163	-	-	-
?/?	6	c.534A>T	-	p.E178D	2.95	0.013	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_01164	-	-	-
?/?	6	c.535G>A	-	p.V179I	8.3	0.722	0.2108	Thompson et al., 2013	DNA	SEQ	MLH1_01165	-	-	-
?/?	6	c.535G>C	-	p.V179L	17.13	0.92	0.7628	Thompson et al., 2013	DNA	SEQ	MLH1_01166	-	-	-
?/?	6	c.535G>T	-	p.V179F	15.31	0.989	0.7697	Thompson et al., 2013	DNA	SEQ	MLH1_01167	-	-	-
?/?	6	c.536T>A	-	p.V179D	32.86	0.994	0.9508	Thompson et al., 2013	DNA	SEQ	MLH1_01168	-	-	-
?/?	6	c.536T>C	-	p.V179A	24.24	0.981	0.9017	Thompson et al., 2013	DNA	SEQ	MLH1_01169	-	-	-
?/?	6	c.536T>G	-	p.V179G	16.73	0.994	0.8068	Thompson et al., 2013	DNA	SEQ	MLH1_01170	-	-	-
?/?	6	c.538G>A	-	p.V180I	3.25	0.15	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_01171	-	-	-
?/?	6	c.538G>C	-	p.V180L	5.86	0.15	0.0105	Thompson et al., 2013	DNA	SEQ	MLH1_01172	-	-	-
?/?	6	c.538G>T	-	p.V180F	7.42	0.835	0.251	Thompson et al., 2013	DNA	SEQ	MLH1_01173	-	-	-
?/?	6	c.539T>A	-	p.V180D	37.78	0.949	0.9563	Thompson et al., 2013	DNA	SEQ	MLH1_01174	-	-	-
?/?	6	c.539T>C	-	p.V180A	8.2	0.694	0.1874	Thompson et al., 2013	DNA	SEQ	MLH1_01175	-	-	-
?/?	6	c.539T>G	-	p.V180G	10.06	0.934	0.5048	Thompson et al., 2013	DNA	SEQ	MLH1_01176	-	-	-
?/?	6	c.541G>A	-	p.G181S	0.74	0.003	0.0001	Thompson et al., 2013	DNA	SEQ	MLH1_01177	-	-	-
?/?	6	c.541G>C	-	p.G181R	35.66	0.048	0.2927	Thompson et al., 2013	DNA	SEQ	MLH1_01178	-	-	-
?/?	6	c.541G>T	-	p.G181C	16.48	0.516	0.345	Thompson et al., 2013	DNA	SEQ	MLH1_01179	-	-	-
?/?	6	c.542G>A	-	p.G181D	37.87	0.116	0.3879	Thompson et al., 2013	DNA	SEQ	MLH1_01180	-	-	-
?/?	6	c.542G>C	-	p.G181A	16.38	0.009	0.0565	Thompson et al., 2013	DNA	SEQ	MLH1_01181	-	-	-
?/?	6	c.542G>T	-	p.G181V	25.29	0.069	0.1718	Thompson et al., 2013	DNA	SEQ	MLH1_01182	-	-	-
?/?	6	c.544A>G	-	p.R182G	24.23	0.957	0.8921	Thompson et al., 2013	DNA	SEQ	MLH1_01183	-	-	-
?/?	6	c.544A>T	-	p.R182W	19.93	0.993	0.8609	Thompson et al., 2013	DNA	SEQ	MLH1_01184	-	-	-
?/?	6	c.545G>A	-	p.R182K	4.19	0.085	0.0037	Thompson et al., 2013	DNA	SEQ	MLH1_01185	-	-	-
?/?	6	c.545G>C	-	p.R182T	23.48	0.875	0.8445	Thompson et al., 2013	DNA	SEQ	MLH1_01186	-	-	-
?/?	6	c.545G>T	-	p.R182M	14.56	0.973	0.7359	Thompson et al., 2013	DNA	SEQ	MLH1_01187	-	-	-
?/?	7	c.546G>C	-	p.R182S	20.03	0.931	0.8278	Thompson et al., 2013	DNA	SEQ	MLH1_01188	-	-	-
?/?	7	c.546G>T	-	p.R182S	20.03	0.931	0.8278	Thompson et al., 2013	DNA	SEQ	MLH1_01189	-	-	-
?/?	7	c.547T>A	-	p.Y183N	17.86	0.994	0.8289	Thompson et al., 2013	DNA	SEQ	MLH1_01190	-	-	-
?/?	7	c.547T>C	-	p.Y183H	16.52	0.994	0.8023	Thompson et al., 2013	DNA	SEQ	MLH1_01191	-	-	-
?/?	7	c.547T>G	-	p.Y183D	35.81	0.994	0.9592	Thompson et al., 2013	DNA	SEQ	MLH1_01192	-	-	-
?/?	7	c.548A>C	-	p.Y183S	18.59	0.994	0.8414	Thompson et al., 2013	DNA	SEQ	MLH1_01193	-	-	-
?/?	7	c.548A>G	-	p.Y183C	23.02	0.998	0.8976	Thompson et al., 2013	DNA	SEQ	MLH1_01194	-	-	-
?/?	7	c.548A>T	-	p.Y183F	22.82	0.56	0.5709	Thompson et al., 2013	DNA	SEQ	MLH1_01195	-	-	-
?/?	7	c.550T>A	-	p.S184T	9.91	0.027	0.0203	Thompson et al., 2013	DNA	SEQ	MLH1_01196	-	-	-
?/?	7	c.550T>C	-	p.S184P	14.77	0.106	0.0668	Thompson et al., 2013	DNA	SEQ	MLH1_01197	-	-	-
?/?	7	c.550T>G	-	p.S184A	3.13	-	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_01198	-	-	-
?/?	7	c.551C>T	-	p.S184L	13.43	0.027	0.0396	Thompson et al., 2013	DNA	SEQ	MLH1_01199	-	-	-
?/?	7	c.553G>A	-	p.V185I	0.44	0.003	1.59E-05	Thompson et al., 2013	DNA	SEQ	MLH1_01200	-	-	-

1101 - 1200
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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)