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


?/?	18	c.2047T>C	-	p.F683L	12.82	0.969	0.6723	Thompson et al., 2013	DNA	SEQ	MLH1_04501	-	-	-
?/?	18	c.2047T>G	-	p.F683V	17.61	0.965	0.8057	Thompson et al., 2013	DNA	SEQ	MLH1_04502	-	-	-
?/?	18	c.2048T>A	-	p.F683Y	16.28	0.454	0.2824	Thompson et al., 2013	DNA	SEQ	MLH1_04503	-	-	-
?/?	18	c.2048T>C	-	p.F683S	19.43	0.979	0.8462	Thompson et al., 2013	DNA	SEQ	MLH1_04504	-	-	-
?/?	18	c.2048T>G	-	p.F683C	17.91	0.997	0.8316	Thompson et al., 2013	DNA	SEQ	MLH1_04505	-	-	-
?/?	18	c.2049C>A	-	p.F683L	12.82	0.969	0.6723	Thompson et al., 2013	DNA	SEQ	MLH1_04506	-	-	-
?/?	18	c.2049C>G	-	p.F683L	12.82	0.969	0.6723	Thompson et al., 2013	DNA	SEQ	MLH1_04507	-	-	-
?/?	18	c.2050T>A	-	p.Y684N	21.05	0.99	0.8737	Thompson et al., 2013	DNA	SEQ	MLH1_04508	-	-	-
?/?	18	c.2050T>C	-	p.Y684H	17.57	0.984	0.8173	Thompson et al., 2013	DNA	SEQ	MLH1_04509	-	-	-
?/?	18	c.2050T>G	-	p.Y684D	28.48	0.99	0.9321	Thompson et al., 2013	DNA	SEQ	MLH1_04510	-	-	-
?/?	18	c.2051A>C	-	p.Y684S	17.29	0.979	0.8085	Thompson et al., 2013	DNA	SEQ	MLH1_04511	-	-	-
?/?	18	c.2051A>G	-	p.Y684C	14.49	0.997	0.7532	Thompson et al., 2013	DNA	SEQ	MLH1_04512	-	-	-
?/?	18	c.2051A>T	-	p.Y684F	6.17	0.454	0.0417	Thompson et al., 2013	DNA	SEQ	MLH1_04513	-	-	-
?/?	18	c.2053T>A	-	p.S685T	9.21	0.028	0.0173	Thompson et al., 2013	DNA	SEQ	MLH1_04514	-	-	-
?/?	18	c.2053T>C	-	p.S685P	14.39	0.616	0.3722	Thompson et al., 2013	DNA	SEQ	MLH1_04515	-	-	-
?/?	18	c.2053T>G	-	p.S685A	4.78	0.019	0.0038	Thompson et al., 2013	DNA	SEQ	MLH1_04516	-	-	-
?/?	18	c.2054C>A	-	p.S685Y	12.78	0.679	0.372	Thompson et al., 2013	DNA	SEQ	MLH1_04517	-	-	-
?/?	18	c.2054C>G	-	p.S685C	10.21	0.679	0.2624	Thompson et al., 2013	DNA	SEQ	MLH1_04518	-	-	-
?/?	18	c.2054C>T	-	p.S685F	9.91	0.679	0.2495	Thompson et al., 2013	DNA	SEQ	MLH1_04519	-	-	-
?/?	18	c.2056A>C	-	p.I686L	7.91	0.019	0.0118	Thompson et al., 2013	DNA	SEQ	MLH1_04520	-	-	-
?/?	18	c.2056A>G	-	p.I686V	4.44	0.001	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_04521	-	-	-
?/?	18	c.2056A>T	-	p.I686F	6.32	0.003	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_04522	-	-	-
?/?	18	c.2057T>A	-	p.I686N	12.88	0.182	0.0677	Thompson et al., 2013	DNA	SEQ	MLH1_04523	-	-	-
?/?	18	c.2057T>C	-	p.I686T	9.62	0.019	0.0183	Thompson et al., 2013	DNA	SEQ	MLH1_04524	-	-	-
?/?	18	c.2057T>G	-	p.I686S	8.95	0.047	0.0176	Thompson et al., 2013	DNA	SEQ	MLH1_04525	-	-	-
?/?	18	c.2058C>G	-	p.I686M	11.45	0.011	0.0261	Thompson et al., 2013	DNA	SEQ	MLH1_04526	-	-	-
?/?	18	c.2059C>G	-	p.R687G	16.19	0.022	0.0581	Thompson et al., 2013	DNA	SEQ	MLH1_04527	-	-	-
?/?	18	c.2059C>T	-	p.R687W	11.89	0.772	0.4276	Thompson et al., 2013	DNA	SEQ	MLH1_04528	-	-	-
?/?	18	c.2060G>A	-	p.R687Q	4.49	0.031	0.0035	Thompson et al., 2013	DNA	SEQ	MLH1_04529	-	-	-
?/?	18	c.2060G>C	-	p.R687P	28.65	0.022	0.1839	Thompson et al., 2013	DNA	SEQ	MLH1_04530	-	-	-
?/?	18	c.2060G>T	-	p.R687L	20.36	0.165	0.1603	Thompson et al., 2013	DNA	SEQ	MLH1_04531	-	-	-
?/?	18	c.2062A>C	-	p.K688Q	2.95	0.101	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_04532	-	-	-
?/?	18	c.2062A>G	-	p.K688E	4.3	0.143	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_04533	-	-	-
?/?	18	c.2063A>C	-	p.K688T	4.39	0.227	0.0076	Thompson et al., 2013	DNA	SEQ	MLH1_04534	-	-	-
?/?	18	c.2063A>G	-	p.K688R	3.08	0.419	0.0077	Thompson et al., 2013	DNA	SEQ	MLH1_04535	-	-	-
?/?	18	c.2063A>T	-	p.K688M	8.09	0.59	0.1256	Thompson et al., 2013	DNA	SEQ	MLH1_04536	-	-	-
?/?	18	c.2064G>C	-	p.K688N	2.6	0.037	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_04537	-	-	-
?/?	18	c.2064G>T	-	p.K688N	2.6	0.037	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_04538	-	-	-
?/?	18	c.2065C>A	-	p.Q689K	3.72	0.042	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_04539	-	-	-
?/?	18	c.2065C>G	-	p.Q689E	3.12	0.003	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_04540	-	-	-
?/?	18	c.2066A>C	-	p.Q689P	8.36	0.073	0.0168	Thompson et al., 2013	DNA	SEQ	MLH1_04541	-	-	-
?/?	18	c.2066A>G	-	p.Q689R	5.2	0.042	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_04542	-	-	-
?/?	18	c.2066A>T	-	p.Q689L	11.8	0.042	0.0317	Thompson et al., 2013	DNA	SEQ	MLH1_04543	-	-	-
?/?	18	c.2067G>C	-	p.Q689H	3.65	0.175	0.004	Thompson et al., 2013	DNA	SEQ	MLH1_04544	-	-	-
?/?	18	c.2067G>T	-	p.Q689H	3.65	0.175	0.004	Thompson et al., 2013	DNA	SEQ	MLH1_04545	-	-	-
?/?	18	c.2068T>A	-	p.Y690N	5.49	0.119	0.0079	Thompson et al., 2013	DNA	SEQ	MLH1_04546	-	-	-
?/?	18	c.2068T>C	-	p.Y690H	12.08	0.003	0.0284	Thompson et al., 2013	DNA	SEQ	MLH1_04547	-	-	-
?/?	18	c.2068T>G	-	p.Y690D	25.3	0.166	0.2389	Thompson et al., 2013	DNA	SEQ	MLH1_04548	-	-	-
?/?	18	c.2069A>C	-	p.Y690S	2.98	0.005	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_04549	-	-	-
?/?	18	c.2069A>G	-	p.Y690C	2.54	0.398	0.0045	Thompson et al., 2013	DNA	SEQ	MLH1_04550	-	-	-
?/?	18	c.2069A>T	-	p.Y690F	2.96	0.005	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_04551	-	-	-
?/?	18	c.2071A>C	-	p.I691L	3.31	0.007	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_04552	-	-	-
?/?	18	c.2071A>G	-	p.I691V	1.6	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_04553	-	-	-
?/?	18	c.2071A>T	-	p.I691L	3.31	0.007	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_04554	-	-	-
?/?	18	c.2072T>A	-	p.I691K	3.94	0.001	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_04555	-	-	-
?/?	18	c.2072T>C	-	p.I691T	2.2	-	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_04556	-	-	-
?/?	18	c.2072T>G	-	p.I691R	4.55	0.018	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_04557	-	-	-
?/?	18	c.2073A>G	-	p.I691M	3.84	0.027	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_04558	-	-	-
?/?	18	c.2074T>A	-	p.S692T	3.15	0.015	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_04559	-	-	-
?/?	18	c.2074T>C	-	p.S692P	2.7	0.001	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_04560	-	-	-
?/?	18	c.2074T>G	-	p.S692A	2.63	0.001	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_04561	-	-	-
?/?	18	c.2075C>A	-	p.S692Y	2.96	0.039	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_04562	-	-	-
?/?	18	c.2075C>G	-	p.S692C	2.24	0.093	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_04563	-	-	-
?/?	18	c.2075C>T	-	p.S692F	1.89	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_04564	-	-	-
?/?	18	c.2077G>A	-	p.E693K	4.5	0.031	0.0035	Thompson et al., 2013	DNA	SEQ	MLH1_04565	-	-	-
?/?	18	c.2077G>C	-	p.E693Q	2.9	0.045	0.0014	Thompson et al., 2013	DNA	SEQ	MLH1_04566	-	-	-
?/?	18	c.2078A>C	-	p.E693A	6.42	0.002	0.0069	Thompson et al., 2013	DNA	SEQ	MLH1_04567	-	-	-
?/?	18	c.2078A>G	-	p.E693G	4.93	0.018	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_04568	-	-	-
?/?	18	c.2078A>T	-	p.E693V	8.69	0.021	0.0147	Thompson et al., 2013	DNA	SEQ	MLH1_04569	-	-	-
?/?	18	c.2079G>C	-	p.E693D	1.57	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_04570	-	-	-
?/?	18	c.2079G>T	-	p.E693D	1.57	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_04571	-	-	-
?/?	18	c.2080G>A	-	p.E694K	6.04	0.071	0.008	Thompson et al., 2013	DNA	SEQ	MLH1_04572	-	-	-
?/?	18	c.2080G>C	-	p.E694Q	4.02	0.249	0.0068	Thompson et al., 2013	DNA	SEQ	MLH1_04573	-	-	-
?/?	18	c.2081A>C	-	p.E694A	5.77	0.01	0.0056	Thompson et al., 2013	DNA	SEQ	MLH1_04574	-	-	-
?/?	18	c.2081A>G	-	p.E694G	6.3	0.005	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_04575	-	-	-
?/?	18	c.2081A>T	-	p.E694V	8.75	0.119	0.0225	Thompson et al., 2013	DNA	SEQ	MLH1_04576	-	-	-
?/?	18	c.2082G>C	-	p.E694D	1.81	0.003	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_04577	-	-	-
?/?	18	c.2082G>T	-	p.E694D	1.81	0.003	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_04578	-	-	-
?/?	18	c.2083T>A	-	p.S695T	1.58	-	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_04579	-	-	-
?/?	18	c.2083T>C	-	p.S695P	11.28	0.047	0.0293	Thompson et al., 2013	DNA	SEQ	MLH1_04580	-	-	-
?/?	18	c.2083T>G	-	p.S695A	6.6	0.027	0.0082	Thompson et al., 2013	DNA	SEQ	MLH1_04581	-	-	-
?/?	18	c.2084C>G	-	p.S695W	6.16	0.566	0.0653	Thompson et al., 2013	DNA	SEQ	MLH1_04582	-	-	-
?/?	18	c.2084C>T	-	p.S695L	5.76	0.027	0.006	Thompson et al., 2013	DNA	SEQ	MLH1_04583	-	-	-
?/?	18	c.2086A>C	-	p.T696P	7.59	-	0.01	Thompson et al., 2013	DNA	SEQ	MLH1_04584	-	-	-
?/?	18	c.2086A>G	-	p.T696A	4.27	0.001	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_04585	-	-	-
?/?	18	c.2086A>T	-	p.T696S	1.43	0.001	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_04586	-	-	-
?/?	18	c.2087C>A	-	p.T696N	2.22	0.001	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_04587	-	-	-
?/?	18	c.2087C>G	-	p.T696S	1.43	0.001	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_04588	-	-	-
?/?	18	c.2087C>T	-	p.T696I	2.86	0.011	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_04589	-	-	-
?/?	18	c.2089C>A	-	p.L697I	2.65	0.004	0.0009	Thompson et al., 2013	DNA	SEQ	MLH1_04590	-	-	-
?/?	18	c.2089C>G	-	p.L697V	3.54	0.019	0.0019	Thompson et al., 2013	DNA	SEQ	MLH1_04591	-	-	-
?/?	18	c.2089C>T	-	p.L697F	2.41	0.108	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_04592	-	-	-
?/?	18	c.2090T>A	-	p.L697H	2.72	0.156	0.0019	Thompson et al., 2013	DNA	SEQ	MLH1_04593	-	-	-
?/?	18	c.2090T>C	-	p.L697P	4.98	0.001	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_04594	-	-	-
?/?	18	c.2090T>G	-	p.L697R	3.63	0.047	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_04595	-	-	-
?/?	18	c.2092T>A	-	p.S698T	3.36	0.001	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_04596	-	-	-
?/?	18	c.2092T>C	-	p.S698P	5.7	0.047	0.0064	Thompson et al., 2013	DNA	SEQ	MLH1_04597	-	-	-
?/?	18	c.2092T>G	-	p.S698A	3.47	0.016	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_04598	-	-	-
?/?	18	c.2093C>T	-	p.S698L	3.76	0.027	0.0023	Thompson et al., 2013	DNA	SEQ	MLH1_04599	-	-	-
?/?	18	c.2095G>A	-	p.G699S	1.46	0.003	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_04600	-	-	-

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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)