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


?/?	17	c.1960C>A	-	p.P654T	17.77	0.998	0.8297	Thompson et al., 2013	DNA	SEQ	MLH1_04301	-	-	-
?/?	17	c.1960C>G	-	p.P654A	20	0.998	0.8643	Thompson et al., 2013	DNA	SEQ	MLH1_04302	-	-	-
?/?	17	c.1960C>T	-	p.P654S	17.5	0.998	0.8247	Thompson et al., 2013	DNA	SEQ	MLH1_04303	-	-	-
?/?	17	c.1961C>A	-	p.P654H	19.31	0.999	0.8552	Thompson et al., 2013	DNA	SEQ	MLH1_04304	-	-	-
?/?	17	c.1961C>G	-	p.P654R	41.48	0.998	0.9709	Thompson et al., 2013	DNA	SEQ	MLH1_04305	-	-	-
?/?	17	c.1961C>T	-	p.P654L	26.92	0.998	0.926	Thompson et al., 2013	DNA	SEQ	MLH1_04306	-	-	-
?/?	17	c.1963A>C	-	p.I655L	2.93	-	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_04307	-	-	-
?/?	17	c.1963A>G	-	p.I655V	7.63	0.001	0.0101	Thompson et al., 2013	DNA	SEQ	MLH1_04308	-	-	-
?/?	17	c.1963A>T	-	p.I655F	3.18	0.028	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_04309	-	-	-
?/?	17	c.1964T>A	-	p.I655N	12.7	0.066	0.0411	Thompson et al., 2013	DNA	SEQ	MLH1_04310	-	-	-
?/?	17	c.1964T>C	-	p.I655T	6.75	0.001	0.0077	Thompson et al., 2013	DNA	SEQ	MLH1_04311	-	-	-
?/?	17	c.1964T>G	-	p.I655S	5.96	0.001	0.0058	Thompson et al., 2013	DNA	SEQ	MLH1_04312	-	-	-
?/?	17	c.1965C>G	-	p.I655M	2.38	0.001	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_04313	-	-	-
?/?	17	c.1966T>A	-	p.F656I	10.86	0.966	0.5816	Thompson et al., 2013	DNA	SEQ	MLH1_04314	-	-	-
?/?	17	c.1966T>C	-	p.F656L	12.82	0.939	0.6436	Thompson et al., 2013	DNA	SEQ	MLH1_04315	-	-	-
?/?	17	c.1966T>G	-	p.F656V	17.61	0.909	0.7656	Thompson et al., 2013	DNA	SEQ	MLH1_04316	-	-	-
?/?	17	c.1967T>A	-	p.F656Y	16.28	0.19	0.1133	Thompson et al., 2013	DNA	SEQ	MLH1_04317	-	-	-
?/?	17	c.1967T>C	-	p.F656S	19.43	0.958	0.8342	Thompson et al., 2013	DNA	SEQ	MLH1_04318	-	-	-
?/?	17	c.1967T>G	-	p.F656C	17.91	0.981	0.8218	Thompson et al., 2013	DNA	SEQ	MLH1_04319	-	-	-
?/?	17	c.1968C>A	-	p.F656L	12.82	0.939	0.6436	Thompson et al., 2013	DNA	SEQ	MLH1_04320	-	-	-
?/?	17	c.1968C>G	-	p.F656L	12.82	0.939	0.6436	Thompson et al., 2013	DNA	SEQ	MLH1_04321	-	-	-
?/?	17	c.1969A>C	-	p.I657L	5.9	0.007	0.0058	Thompson et al., 2013	DNA	SEQ	MLH1_04322	-	-	-
?/?	17	c.1969A>G	-	p.I657V	3.29	0.002	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_04323	-	-	-
?/?	17	c.1969A>T	-	p.I657F	6.32	0.352	0.0289	Thompson et al., 2013	DNA	SEQ	MLH1_04324	-	-	-
?/?	17	c.1970T>A	-	p.I657N	13.14	0.553	0.2694	Thompson et al., 2013	DNA	SEQ	MLH1_04325	-	-	-
?/?	17	c.1970T>C	-	p.I657T	8.41	0.167	0.0252	Thompson et al., 2013	DNA	SEQ	MLH1_04326	-	-	-
?/?	17	c.1970T>G	-	p.I657S	7.74	0.352	0.045	Thompson et al., 2013	DNA	SEQ	MLH1_04327	-	-	-
?/?	17	c.1971T>G	-	p.I657M	9.22	0.23	0.04	Thompson et al., 2013	DNA	SEQ	MLH1_04328	-	-	-
?/?	17	c.1972C>A	-	p.L658I	15.31	0.983	0.7652	Thompson et al., 2013	DNA	SEQ	MLH1_04329	-	-	-
?/?	17	c.1972C>G	-	p.L658V	25.14	0.882	0.8672	Thompson et al., 2013	DNA	SEQ	MLH1_04330	-	-	-
?/?	17	c.1972C>T	-	p.L658F	11.46	0.973	0.618	Thompson et al., 2013	DNA	SEQ	MLH1_04331	-	-	-
?/?	17	c.1973T>A	-	p.L658H	16.59	0.997	0.8058	Thompson et al., 2013	DNA	SEQ	MLH1_04332	-	-	-
?/?	17	c.1973T>C	-	p.L658P	36.53	0.99	0.9603	Thompson et al., 2013	DNA	SEQ	MLH1_04333	-	-	-
?/?	17	c.1973T>G	-	p.L658R	36.97	0.99	0.9613	Thompson et al., 2013	DNA	SEQ	MLH1_04334	-	-	-
?/?	17	c.1975C>G	-	p.R659G	25.9	0.997	0.9194	Thompson et al., 2013	DNA	SEQ	MLH1_04335	-	-	-
?/?	17	c.1976G>A	-	p.R659Q	14.43	0.996	0.7507	Thompson et al., 2013	DNA	SEQ	MLH1_04336	-	-	-
?/?	17	c.1976G>C	-	p.R659P	40.7	0.998	0.9697	Thompson et al., 2013	DNA	SEQ	MLH1_04337	-	-	-
?/?	17	c.1976G>T	-	p.R659L	19.03	0.997	0.85	Thompson et al., 2013	DNA	SEQ	MLH1_04338	-	-	-
?/?	17	c.1978C>A	-	p.L660I	15.46	0.473	0.275	Thompson et al., 2013	DNA	SEQ	MLH1_04339	-	-	-
?/?	17	c.1978C>G	-	p.L660V	25.8	0.798	0.8289	Thompson et al., 2013	DNA	SEQ	MLH1_04340	-	-	-
?/?	17	c.1979T>A	-	p.L660Q	15.01	0.982	0.7562	Thompson et al., 2013	DNA	SEQ	MLH1_04341	-	-	-
?/?	17	c.1979T>C	-	p.L660P	36.32	0.982	0.9584	Thompson et al., 2013	DNA	SEQ	MLH1_04342	-	-	-
?/?	17	c.1979T>G	-	p.L660R	33.02	0.982	0.9489	Thompson et al., 2013	DNA	SEQ	MLH1_04343	-	-	-
?/?	17	c.1981G>A	-	p.A661T	10.25	0.872	0.4496	Thompson et al., 2013	DNA	SEQ	MLH1_04344	-	-	-
?/?	17	c.1981G>C	-	p.A661P	14.14	0.958	0.7098	Thompson et al., 2013	DNA	SEQ	MLH1_04345	-	-	-
?/?	17	c.1981G>T	-	p.A661S	7.9	0.292	0.0368	Thompson et al., 2013	DNA	SEQ	MLH1_04346	-	-	-
?/?	17	c.1982C>A	-	p.A661D	44.89	0.958	0.9712	Thompson et al., 2013	DNA	SEQ	MLH1_04347	-	-	-
?/?	17	c.1982C>G	-	p.A661G	8.24	0.292	0.0404	Thompson et al., 2013	DNA	SEQ	MLH1_04348	-	-	-
?/?	17	c.1982C>T	-	p.A661V	9.48	0.909	0.4447	Thompson et al., 2013	DNA	SEQ	MLH1_04349	-	-	-
?/?	17	c.1984A>C	-	p.T662P	43.72	0.979	0.972	Thompson et al., 2013	DNA	SEQ	MLH1_04350	-	-	-
?/?	17	c.1984A>G	-	p.T662A	37.99	0.917	0.9509	Thompson et al., 2013	DNA	SEQ	MLH1_04351	-	-	-
?/?	17	c.1984A>T	-	p.T662S	11.33	0.454	0.1473	Thompson et al., 2013	DNA	SEQ	MLH1_04352	-	-	-
?/?	17	c.1985C>A	-	p.T662N	20.18	0.979	0.8571	Thompson et al., 2013	DNA	SEQ	MLH1_04353	-	-	-
?/?	17	c.1985C>G	-	p.T662S	11.33	0.454	0.1473	Thompson et al., 2013	DNA	SEQ	MLH1_04354	-	-	-
?/?	17	c.1985C>T	-	p.T662I	33.48	0.987	0.9514	Thompson et al., 2013	DNA	SEQ	MLH1_04355	-	-	-
?/?	17	c.1987G>A	-	p.E663K	19.98	0.971	0.85	Thompson et al., 2013	DNA	SEQ	MLH1_04356	-	-	-
?/?	17	c.1987G>C	-	p.E663Q	13.2	0.983	0.6994	Thompson et al., 2013	DNA	SEQ	MLH1_04357	-	-	-
?/?	17	c.1988A>C	-	p.E663A	24.45	0.983	0.9041	Thompson et al., 2013	DNA	SEQ	MLH1_04358	-	-	-
?/?	17	c.1988A>G	-	p.E663G	28.23	0.971	0.9255	Thompson et al., 2013	DNA	SEQ	MLH1_04359	-	-	-
?/?	17	c.1988A>T	-	p.E663V	31.34	0.987	0.944	Thompson et al., 2013	DNA	SEQ	MLH1_04360	-	-	-
?/?	17	c.1989G>C	-	p.E663D	13.31	0.629	0.3442	Thompson et al., 2013	DNA	SEQ	MLH1_04361	-	-	-
?/?	17	c.1989G>T	-	p.E663D	13.31	0.629	0.3442	Thompson et al., 2013	DNA	SEQ	MLH1_04362	-	-	-
?/?	18	c.1990G>A	-	p.V664M	24.43	0.984	0.9043	Thompson et al., 2013	DNA	SEQ	MLH1_04363	-	-	-
?/?	18	c.1990G>C	-	p.V664L	20.81	0.629	0.5915	Thompson et al., 2013	DNA	SEQ	MLH1_04364	-	-	-
?/?	18	c.1990G>T	-	p.V664L	20.81	0.629	0.5915	Thompson et al., 2013	DNA	SEQ	MLH1_04365	-	-	-
?/?	18	c.1991T>A	-	p.V664E	32.45	0.984	0.9474	Thompson et al., 2013	DNA	SEQ	MLH1_04366	-	-	-
?/?	18	c.1991T>C	-	p.V664A	27.75	0.948	0.9155	Thompson et al., 2013	DNA	SEQ	MLH1_04367	-	-	-
?/?	18	c.1991T>G	-	p.V664G	23.22	0.987	0.8951	Thompson et al., 2013	DNA	SEQ	MLH1_04368	-	-	-
?/?	18	c.1993A>C	-	p.N665H	6.45	0.884	0.231	Thompson et al., 2013	DNA	SEQ	MLH1_04369	-	-	-
?/?	18	c.1993A>G	-	p.N665D	2.82	0.011	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_04370	-	-	-
?/?	18	c.1993A>T	-	p.N665Y	12.34	0.884	0.5671	Thompson et al., 2013	DNA	SEQ	MLH1_04371	-	-	-
?/?	18	c.1994A>C	-	p.N665T	10.07	0.576	0.1819	Thompson et al., 2013	DNA	SEQ	MLH1_04372	-	-	-
?/?	18	c.1994A>G	-	p.N665S	9.08	0.357	0.0647	Thompson et al., 2013	DNA	SEQ	MLH1_04373	-	-	-
?/?	18	c.1994A>T	-	p.N665I	33.29	0.852	0.9158	Thompson et al., 2013	DNA	SEQ	MLH1_04374	-	-	-
?/?	18	c.1995T>A	-	p.N665K	6.14	0.451	0.0407	Thompson et al., 2013	DNA	SEQ	MLH1_04375	-	-	-
?/?	18	c.1995T>G	-	p.N665K	6.14	0.451	0.0407	Thompson et al., 2013	DNA	SEQ	MLH1_04376	-	-	-
?/?	18	c.1996T>A	-	p.W666R	37.82	0.997	0.9642	Thompson et al., 2013	DNA	SEQ	MLH1_04377	-	-	-
?/?	18	c.1996T>C	-	p.W666R	37.82	0.997	0.9642	Thompson et al., 2013	DNA	SEQ	MLH1_04378	-	-	-
?/?	18	c.1996T>G	-	p.W666G	23.29	0.996	0.8993	Thompson et al., 2013	DNA	SEQ	MLH1_04379	-	-	-
?/?	18	c.1997G>C	-	p.W666S	16.73	0.997	0.8088	Thompson et al., 2013	DNA	SEQ	MLH1_04380	-	-	-
?/?	18	c.1997G>T	-	p.W666L	33.15	0.996	0.9521	Thompson et al., 2013	DNA	SEQ	MLH1_04381	-	-	-
?/?	18	c.1998G>C	-	p.W666C	29.05	0.999	0.9372	Thompson et al., 2013	DNA	SEQ	MLH1_04382	-	-	-
?/?	18	c.1998G>T	-	p.W666C	29.05	0.999	0.9372	Thompson et al., 2013	DNA	SEQ	MLH1_04383	-	-	-
?/?	18	c.1999G>A	-	p.D667N	13.85	0.392	0.1731	Thompson et al., 2013	DNA	SEQ	MLH1_04384	-	-	-
?/?	18	c.1999G>C	-	p.D667H	18.37	0.932	0.7986	Thompson et al., 2013	DNA	SEQ	MLH1_04385	-	-	-
?/?	18	c.1999G>T	-	p.D667Y	14.2	0.892	0.6509	Thompson et al., 2013	DNA	SEQ	MLH1_04386	-	-	-
?/?	18	c.2000A>C	-	p.D667A	22.35	0.713	0.7089	Thompson et al., 2013	DNA	SEQ	MLH1_04387	-	-	-
?/?	18	c.2000A>G	-	p.D667G	18.16	0.805	0.6922	Thompson et al., 2013	DNA	SEQ	MLH1_04388	-	-	-
?/?	18	c.2000A>T	-	p.D667V	24.78	0.157	0.2237	Thompson et al., 2013	DNA	SEQ	MLH1_04389	-	-	-
?/?	18	c.2001C>A	-	p.D667E	3.48	0.178	0.0036	Thompson et al., 2013	DNA	SEQ	MLH1_04390	-	-	-
?/?	18	c.2001C>G	-	p.D667E	3.48	0.178	0.0036	Thompson et al., 2013	DNA	SEQ	MLH1_04391	-	-	-
?/?	18	c.2002G>A	-	p.E668K	2.73	0.001	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_04392	-	-	-
?/?	18	c.2002G>C	-	p.E668Q	2.02	0.011	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_04393	-	-	-
?/?	18	c.2003A>C	-	p.E668A	5.49	0.016	0.0051	Thompson et al., 2013	DNA	SEQ	MLH1_04394	-	-	-
?/?	18	c.2003A>G	-	p.E668G	3.3	0.027	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_04395	-	-	-
?/?	18	c.2003A>T	-	p.E668V	9.76	0.002	0.0176	Thompson et al., 2013	DNA	SEQ	MLH1_04396	-	-	-
?/?	18	c.2004A>C	-	p.E668D	3.05	0.002	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_04397	-	-	-
?/?	18	c.2004A>T	-	p.E668D	3.05	0.002	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_04398	-	-	-
?/?	18	c.2005G>A	-	p.E669K	19.98	0.995	0.8626	Thompson et al., 2013	DNA	SEQ	MLH1_04399	-	-	-
?/?	18	c.2005G>C	-	p.E669Q	13.2	0.996	0.711	Thompson et al., 2013	DNA	SEQ	MLH1_04400	-	-	-

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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)