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.1910T>C	-	p.I637T	1.99	-	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_04201	-	-	-
?/?	17	c.1910T>G	-	p.I637S	1.79	-	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_04202	-	-	-
?/?	17	c.1911T>G	-	p.I637M	5.48	0.019	0.0052	Thompson et al., 2013	DNA	SEQ	MLH1_04203	-	-	-
?/?	17	c.1912G>A	-	p.G638R	36.48	0.774	0.9057	Thompson et al., 2013	DNA	SEQ	MLH1_04204	-	-	-
?/?	17	c.1912G>C	-	p.G638R	36.48	0.774	0.9057	Thompson et al., 2013	DNA	SEQ	MLH1_04205	-	-	-
?/?	17	c.1913G>A	-	p.G638E	34.76	0.6	0.8039	Thompson et al., 2013	DNA	SEQ	MLH1_04206	-	-	-
?/?	17	c.1913G>C	-	p.G638A	15.27	0.239	0.1198	Thompson et al., 2013	DNA	SEQ	MLH1_04207	-	-	-
?/?	17	c.1913G>T	-	p.G638V	24.5	0.504	0.5518	Thompson et al., 2013	DNA	SEQ	MLH1_04208	-	-	-
?/?	17	c.1915T>A	-	p.L639I	3.72	0.202	0.0047	Thompson et al., 2013	DNA	SEQ	MLH1_04209	-	-	-
?/?	17	c.1915T>G	-	p.L639V	12.21	0.57	0.2513	Thompson et al., 2013	DNA	SEQ	MLH1_04210	-	-	-
?/?	17	c.1916T>C	-	p.L639S	26.8	0.953	0.9109	Thompson et al., 2013	DNA	SEQ	MLH1_04211	-	-	-
?/?	17	c.1917A>C	-	p.L639F	9.02	0.923	0.4316	Thompson et al., 2013	DNA	SEQ	MLH1_04212	-	-	-
?/?	17	c.1917A>T	-	p.L639F	9.02	0.923	0.4316	Thompson et al., 2013	DNA	SEQ	MLH1_04213	-	-	-
?/?	17	c.1918C>A	-	p.P640T	17.77	0.998	0.8297	Thompson et al., 2013	DNA	SEQ	MLH1_04214	-	-	-
?/?	17	c.1918C>G	-	p.P640A	20	0.998	0.8643	Thompson et al., 2013	DNA	SEQ	MLH1_04215	-	-	-
?/?	17	c.1918C>T	-	p.P640S	17.5	0.998	0.8247	Thompson et al., 2013	DNA	SEQ	MLH1_04216	-	-	-
?/?	17	c.1919C>A	-	p.P640H	19.31	0.999	0.8552	Thompson et al., 2013	DNA	SEQ	MLH1_04217	-	-	-
?/?	17	c.1919C>G	-	p.P640R	41.48	0.998	0.9709	Thompson et al., 2013	DNA	SEQ	MLH1_04218	-	-	-
?/?	17	c.1919C>T	-	p.P640L	26.92	0.998	0.926	Thompson et al., 2013	DNA	SEQ	MLH1_04219	-	-	-
?/?	17	c.1921C>A	-	p.L641I	15.24	0.056	0.0585	Thompson et al., 2013	DNA	SEQ	MLH1_04220	-	-	-
?/?	17	c.1921C>G	-	p.L641V	24.82	0.016	0.1369	Thompson et al., 2013	DNA	SEQ	MLH1_04221	-	-	-
?/?	17	c.1921C>T	-	p.L641F	11.19	0.413	0.1236	Thompson et al., 2013	DNA	SEQ	MLH1_04222	-	-	-
?/?	17	c.1922T>A	-	p.L641H	16.5	0.56	0.3892	Thompson et al., 2013	DNA	SEQ	MLH1_04223	-	-	-
?/?	17	c.1922T>C	-	p.L641P	36.3	0.616	0.8289	Thompson et al., 2013	DNA	SEQ	MLH1_04224	-	-	-
?/?	17	c.1922T>G	-	p.L641R	38.06	0.73	0.8976	Thompson et al., 2013	DNA	SEQ	MLH1_04225	-	-	-
?/?	17	c.1924C>A	-	p.L642M	10.18	0.905	0.4807	Thompson et al., 2013	DNA	SEQ	MLH1_04226	-	-	-
?/?	17	c.1924C>G	-	p.L642V	14.14	0.179	0.0813	Thompson et al., 2013	DNA	SEQ	MLH1_04227	-	-	-
?/?	17	c.1925T>A	-	p.L642Q	18.55	0.964	0.8229	Thompson et al., 2013	DNA	SEQ	MLH1_04228	-	-	-
?/?	17	c.1925T>C	-	p.L642P	35.69	0.941	0.949	Thompson et al., 2013	DNA	SEQ	MLH1_04229	-	-	-
?/?	17	c.1925T>G	-	p.L642R	34.97	0.964	0.9514	Thompson et al., 2013	DNA	SEQ	MLH1_04230	-	-	-
?/?	17	c.1927A>C	-	p.I643L	1.17	0.001	0.0001	Thompson et al., 2013	DNA	SEQ	MLH1_04231	-	-	-
?/?	17	c.1927A>G	-	p.I643V	12.46	0.002	0.0303	Thompson et al., 2013	DNA	SEQ	MLH1_04232	-	-	-
?/?	17	c.1927A>T	-	p.I643F	9.07	0.079	0.0207	Thompson et al., 2013	DNA	SEQ	MLH1_04233	-	-	-
?/?	17	c.1928T>A	-	p.I643N	25.03	0.278	0.3305	Thompson et al., 2013	DNA	SEQ	MLH1_04234	-	-	-
?/?	17	c.1928T>C	-	p.I643T	23.63	0.046	0.1388	Thompson et al., 2013	DNA	SEQ	MLH1_04235	-	-	-
?/?	17	c.1928T>G	-	p.I643S	26.85	0.079	0.1987	Thompson et al., 2013	DNA	SEQ	MLH1_04236	-	-	-
?/?	17	c.1929T>G	-	p.I643M	9.95	0.188	0.0398	Thompson et al., 2013	DNA	SEQ	MLH1_04237	-	-	-
?/?	17	c.1930G>A	-	p.D644N	9.35	0.714	0.2527	Thompson et al., 2013	DNA	SEQ	MLH1_04238	-	-	-
?/?	17	c.1930G>C	-	p.D644H	12.22	0.818	0.4917	Thompson et al., 2013	DNA	SEQ	MLH1_04239	-	-	-
?/?	17	c.1930G>T	-	p.D644Y	10.8	0.731	0.3353	Thompson et al., 2013	DNA	SEQ	MLH1_04240	-	-	-
?/?	17	c.1931A>C	-	p.D644A	18.22	0.48	0.362	Thompson et al., 2013	DNA	SEQ	MLH1_04241	-	-	-
?/?	17	c.1931A>G	-	p.D644G	13.52	0.034	0.0413	Thompson et al., 2013	DNA	SEQ	MLH1_04242	-	-	-
?/?	17	c.1931A>T	-	p.D644V	20.72	0.058	0.1118	Thompson et al., 2013	DNA	SEQ	MLH1_04243	-	-	-
?/?	17	c.1932C>A	-	p.D644E	3.99	0.02	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_04244	-	-	-
?/?	17	c.1932C>G	-	p.D644E	3.99	0.02	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_04245	-	-	-
?/?	17	c.1933A>C	-	p.N645H	4.45	0.151	0.0057	Thompson et al., 2013	DNA	SEQ	MLH1_04246	-	-	-
?/?	17	c.1933A>G	-	p.N645D	5.01	0.046	0.0047	Thompson et al., 2013	DNA	SEQ	MLH1_04247	-	-	-
?/?	17	c.1933A>T	-	p.N645Y	7.86	0.151	0.0203	Thompson et al., 2013	DNA	SEQ	MLH1_04248	-	-	-
?/?	17	c.1934A>C	-	p.N645T	6.58	0.019	0.0078	Thompson et al., 2013	DNA	SEQ	MLH1_04249	-	-	-
?/?	17	c.1934A>G	-	p.N645S	5.53	0.001	0.0049	Thompson et al., 2013	DNA	SEQ	MLH1_04250	-	-	-
?/?	17	c.1934A>T	-	p.N645I	21.23	0.228	0.2154	Thompson et al., 2013	DNA	SEQ	MLH1_04251	-	-	-
?/?	17	c.1935C>A	-	p.N645K	4	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_04252	-	-	-
?/?	17	c.1935C>G	-	p.N645K	4	0.001	0.0024	Thompson et al., 2013	DNA	SEQ	MLH1_04253	-	-	-
?/?	17	c.1936T>A	-	p.Y646N	17.86	0.975	0.8171	Thompson et al., 2013	DNA	SEQ	MLH1_04254	-	-	-
?/?	17	c.1936T>C	-	p.Y646H	16.52	0.457	0.2918	Thompson et al., 2013	DNA	SEQ	MLH1_04255	-	-	-
?/?	17	c.1936T>G	-	p.Y646D	35.81	0.981	0.957	Thompson et al., 2013	DNA	SEQ	MLH1_04256	-	-	-
?/?	17	c.1937A>C	-	p.Y646S	18.59	0.958	0.8199	Thompson et al., 2013	DNA	SEQ	MLH1_04257	-	-	-
?/?	17	c.1937A>G	-	p.Y646C	23.02	0.996	0.8968	Thompson et al., 2013	DNA	SEQ	MLH1_04258	-	-	-
?/?	17	c.1937A>T	-	p.Y646F	22.82	0.966	0.8824	Thompson et al., 2013	DNA	SEQ	MLH1_04259	-	-	-
?/?	17	c.1939G>A	-	p.V647M	4.62	0.241	0.009	Thompson et al., 2013	DNA	SEQ	MLH1_04260	-	-	-
?/?	17	c.1939G>C	-	p.V647L	3.57	0.032	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_04261	-	-	-
?/?	17	c.1939G>T	-	p.V647L	3.57	0.032	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_04262	-	-	-
?/?	17	c.1940T>A	-	p.V647E	23.72	0.011	0.1229	Thompson et al., 2013	DNA	SEQ	MLH1_04263	-	-	-
?/?	17	c.1940T>C	-	p.V647A	5.71	0.074	0.0072	Thompson et al., 2013	DNA	SEQ	MLH1_04264	-	-	-
?/?	17	c.1940T>G	-	p.V647G	5.3	0.124	0.0075	Thompson et al., 2013	DNA	SEQ	MLH1_04265	-	-	-
?/?	17	c.1942C>A	-	p.P648T	17.77	0.998	0.8297	Thompson et al., 2013	DNA	SEQ	MLH1_04266	-	-	-
?/?	17	c.1942C>G	-	p.P648A	20	0.998	0.8643	Thompson et al., 2013	DNA	SEQ	MLH1_04267	-	-	-
?/?	17	c.1942C>T	-	p.P648S	17.5	0.998	0.8247	Thompson et al., 2013	DNA	SEQ	MLH1_04268	-	-	-
?/?	17	c.1943C>A	-	p.P648H	19.31	0.999	0.8552	Thompson et al., 2013	DNA	SEQ	MLH1_04269	-	-	-
?/?	17	c.1943C>G	-	p.P648R	41.48	0.998	0.9709	Thompson et al., 2013	DNA	SEQ	MLH1_04270	-	-	-
?/?	17	c.1943C>T	-	p.P648L	26.92	0.998	0.926	Thompson et al., 2013	DNA	SEQ	MLH1_04271	-	-	-
?/?	17	c.1945C>A	-	p.P649T	4.14	0.032	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_04272	-	-	-
?/?	17	c.1945C>G	-	p.P649A	2.33	0.006	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_04273	-	-	-
?/?	17	c.1945C>T	-	p.P649S	3.43	0.002	0.0017	Thompson et al., 2013	DNA	SEQ	MLH1_04274	-	-	-
?/?	17	c.1946C>A	-	p.P649H	11	0.241	0.0612	Thompson et al., 2013	DNA	SEQ	MLH1_04275	-	-	-
?/?	17	c.1946C>G	-	p.P649R	23.09	0.112	0.1685	Thompson et al., 2013	DNA	SEQ	MLH1_04276	-	-	-
?/?	17	c.1946C>T	-	p.P649L	3.21	0.005	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_04277	-	-	-
?/?	17	c.1948T>A	-	p.L650M	4.12	0.091	0.0037	Thompson et al., 2013	DNA	SEQ	MLH1_04278	-	-	-
?/?	17	c.1948T>G	-	p.L650V	24.65	0.376	0.4198	Thompson et al., 2013	DNA	SEQ	MLH1_04279	-	-	-
?/?	17	c.1949T>C	-	p.L650S	17.98	0.81	0.6919	Thompson et al., 2013	DNA	SEQ	MLH1_04280	-	-	-
?/?	17	c.1949T>G	-	p.L650W	17.07	0.149	0.1067	Thompson et al., 2013	DNA	SEQ	MLH1_04281	-	-	-
?/?	17	c.1950G>C	-	p.L650F	11.15	0.81	0.4316	Thompson et al., 2013	DNA	SEQ	MLH1_04282	-	-	-
?/?	17	c.1950G>T	-	p.L650F	11.15	0.81	0.4316	Thompson et al., 2013	DNA	SEQ	MLH1_04283	-	-	-
?/?	17	c.1951G>A	-	p.E651K	4.4	0.228	0.0076	Thompson et al., 2013	DNA	SEQ	MLH1_04284	-	-	-
?/?	17	c.1951G>C	-	p.E651Q	3.48	0.569	0.019	Thompson et al., 2013	DNA	SEQ	MLH1_04285	-	-	-
?/?	17	c.1952A>C	-	p.E651A	21.32	0.037	0.1094	Thompson et al., 2013	DNA	SEQ	MLH1_04286	-	-	-
?/?	17	c.1952A>G	-	p.E651G	12.63	0.018	0.0334	Thompson et al., 2013	DNA	SEQ	MLH1_04287	-	-	-
?/?	17	c.1952A>T	-	p.E651V	30.41	0.303	0.4607	Thompson et al., 2013	DNA	SEQ	MLH1_04288	-	-	-
?/?	17	c.1953G>C	-	p.E651D	4.01	0.228	0.0062	Thompson et al., 2013	DNA	SEQ	MLH1_04289	-	-	-
?/?	17	c.1953G>T	-	p.E651D	4.01	0.228	0.0062	Thompson et al., 2013	DNA	SEQ	MLH1_04290	-	-	-
?/?	17	c.1954G>A	-	p.G652R	36.52	0.958	0.9547	Thompson et al., 2013	DNA	SEQ	MLH1_04291	-	-	-
?/?	17	c.1954G>C	-	p.G652R	36.52	0.958	0.9547	Thompson et al., 2013	DNA	SEQ	MLH1_04292	-	-	-
?/?	17	c.1955G>A	-	p.G652E	35.36	0.457	0.6986	Thompson et al., 2013	DNA	SEQ	MLH1_04293	-	-	-
?/?	17	c.1955G>C	-	p.G652A	22.05	0.939	0.8608	Thompson et al., 2013	DNA	SEQ	MLH1_04294	-	-	-
?/?	17	c.1955G>T	-	p.G652V	29.36	0.932	0.92	Thompson et al., 2013	DNA	SEQ	MLH1_04295	-	-	-
?/?	17	c.1957C>A	-	p.L653M	10.65	0.973	0.5781	Thompson et al., 2013	DNA	SEQ	MLH1_04296	-	-	-
?/?	17	c.1957C>G	-	p.L653V	25.8	0.953	0.9036	Thompson et al., 2013	DNA	SEQ	MLH1_04297	-	-	-
?/?	17	c.1958T>A	-	p.L653Q	15.01	0.99	0.7625	Thompson et al., 2013	DNA	SEQ	MLH1_04298	-	-	-
?/?	17	c.1958T>C	-	p.L653P	36.32	0.99	0.9598	Thompson et al., 2013	DNA	SEQ	MLH1_04299	-	-	-
?/?	17	c.1958T>G	-	p.L653R	33.02	0.99	0.9505	Thompson et al., 2013	DNA	SEQ	MLH1_04300	-	-	-

4201 - 4300
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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)