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.

About this overview [Show]

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


?/?	12	c.1100C>G	-	p.T367S	1.69	0.001	0.0003	Thompson et al., 2013	DNA	SEQ	MLH1_02401	-	-	-
?/?	12	c.1100C>T	-	p.T367I	4.72	0.001	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_02402	-	-	-
?/?	12	c.1102T>A	-	p.S368T	2.47	0.014	0.0008	Thompson et al., 2013	DNA	SEQ	MLH1_02403	-	-	-
?/?	12	c.1102T>C	-	p.S368P	4.39	-	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02404	-	-	-
?/?	12	c.1102T>G	-	p.S368A	4.66	0.005	0.0034	Thompson et al., 2013	DNA	SEQ	MLH1_02405	-	-	-
?/?	12	c.1103C>G	-	p.S368W	3.98	0.398	0.0125	Thompson et al., 2013	DNA	SEQ	MLH1_02406	-	-	-
?/?	12	c.1103C>T	-	p.S368L	6.42	0.01	0.0071	Thompson et al., 2013	DNA	SEQ	MLH1_02407	-	-	-
?/?	12	c.1105T>A	-	p.S369T	1.96	-	0.0005	Thompson et al., 2013	DNA	SEQ	MLH1_02408	-	-	-
?/?	12	c.1105T>C	-	p.S369P	4.25	0.033	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02409	-	-	-
?/?	12	c.1105T>G	-	p.S369A	3.54	0.001	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02410	-	-	-
?/?	12	c.1106C>A	-	p.S369Y	5.12	0.058	0.0052	Thompson et al., 2013	DNA	SEQ	MLH1_02411	-	-	-
?/?	12	c.1106C>G	-	p.S369C	1.59	0.1	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02412	-	-	-
?/?	12	c.1106C>T	-	p.S369F	6.28	0.058	0.0083	Thompson et al., 2013	DNA	SEQ	MLH1_02413	-	-	-
?/?	12	c.1108T>A	-	p.S370T	2.85	0.001	0.0011	Thompson et al., 2013	DNA	SEQ	MLH1_02414	-	-	-
?/?	12	c.1108T>C	-	p.S370P	4.89	0.001	0.0037	Thompson et al., 2013	DNA	SEQ	MLH1_02415	-	-	-
?/?	12	c.1108T>G	-	p.S370A	3.4	0.002	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02416	-	-	-
?/?	12	c.1109C>A	-	p.S370Y	4.26	0.096	0.0041	Thompson et al., 2013	DNA	SEQ	MLH1_02417	-	-	-
?/?	12	c.1109C>G	-	p.S370C	3.35	0.162	0.0031	Thompson et al., 2013	DNA	SEQ	MLH1_02418	-	-	-
?/?	12	c.1109C>T	-	p.S370F	3.73	0.096	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02419	-	-	-
?/?	12	c.1111A>C	-	p.T371P	3.53	-	0.0018	Thompson et al., 2013	DNA	SEQ	MLH1_02420	-	-	-
?/?	12	c.1111A>G	-	p.T371A	3.69	-	0.002	Thompson et al., 2013	DNA	SEQ	MLH1_02421	-	-	-
?/?	12	c.1111A>T	-	p.T371S	1.25	-	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02422	-	-	-
?/?	12	c.1112C>A	-	p.T371N	1.85	0.002	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02423	-	-	-
?/?	12	c.1112C>G	-	p.T371S	1.25	-	0.0002	Thompson et al., 2013	DNA	SEQ	MLH1_02424	-	-	-
?/?	12	c.1112C>T	-	p.T371I	5.86	0.014	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_02425	-	-	-
?/?	12	c.1114T>A	-	p.S372T	4.14	0.008	0.0026	Thompson et al., 2013	DNA	SEQ	MLH1_02426	-	-	-
?/?	12	c.1114T>C	-	p.S372P	6.29	-	0.0065	Thompson et al., 2013	DNA	SEQ	MLH1_02427	-	-	-
?/?	12	c.1114T>G	-	p.S372A	3.92	0.001	0.0022	Thompson et al., 2013	DNA	SEQ	MLH1_02428	-	-	-
?/?	12	c.1115C>A	-	p.S372Y	5.54	0.038	0.0058	Thompson et al., 2013	DNA	SEQ	MLH1_02429	-	-	-
?/?	12	c.1115C>G	-	p.S372C	4.81	0.002	0.0036	Thompson et al., 2013	DNA	SEQ	MLH1_02430	-	-	-
?/?	12	c.1115C>T	-	p.S372F	4.33	0.038	0.0033	Thompson et al., 2013	DNA	SEQ	MLH1_02431	-	-	-
?/?	12	c.1117G>A	-	p.G373R	4.62	0.091	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_02432	-	-	-
?/?	12	c.1117G>C	-	p.G373R	4.62	0.091	0.0048	Thompson et al., 2013	DNA	SEQ	MLH1_02433	-	-	-
?/?	12	c.1118G>A	-	p.G373E	4.21	0.002	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_02434	-	-	-
?/?	12	c.1118G>C	-	p.G373A	3.97	0.021	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02435	-	-	-
?/?	12	c.1118G>T	-	p.G373V	9.95	0.002	0.0184	Thompson et al., 2013	DNA	SEQ	MLH1_02436	-	-	-
?/?	12	c.1120A>C	-	p.S374R	34.5	0.091	0.3155	Thompson et al., 2013	DNA	SEQ	MLH1_02437	-	-	-
?/?	12	c.1120A>G	-	p.S374G	3.75	0.009	0.0021	Thompson et al., 2013	DNA	SEQ	MLH1_02438	-	-	-
?/?	12	c.1120A>T	-	p.S374C	4.36	0.25	0.0082	Thompson et al., 2013	DNA	SEQ	MLH1_02439	-	-	-
?/?	12	c.1121G>A	-	p.S374N	10.63	0.004	0.0215	Thompson et al., 2013	DNA	SEQ	MLH1_02440	-	-	-
?/?	12	c.1121G>C	-	p.S374T	2.37	0.002	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02441	-	-	-
?/?	12	c.1121G>T	-	p.S374I	10.05	0.156	0.0357	Thompson et al., 2013	DNA	SEQ	MLH1_02442	-	-	-
?/?	12	c.1122T>A	-	p.S374R	34.5	0.091	0.3155	Thompson et al., 2013	DNA	SEQ	MLH1_02443	-	-	-
?/?	12	c.1122T>G	-	p.S374R	34.5	0.091	0.3155	Thompson et al., 2013	DNA	SEQ	MLH1_02444	-	-	-
?/?	12	c.1123A>C	-	p.S375R	23.79	0.04	0.1376	Thompson et al., 2013	DNA	SEQ	MLH1_02445	-	-	-
?/?	12	c.1123A>G	-	p.S375G	2.32	-	0.0007	Thompson et al., 2013	DNA	SEQ	MLH1_02446	-	-	-
?/?	12	c.1123A>T	-	p.S375C	6.67	0.186	0.0163	Thompson et al., 2013	DNA	SEQ	MLH1_02447	-	-	-
?/?	12	c.1124G>A	-	p.S375N	3.72	0.027	0.0022	Thompson et al., 2013	DNA	SEQ	MLH1_02448	-	-	-
?/?	12	c.1124G>C	-	p.S375T	1.86	0.001	0.0004	Thompson et al., 2013	DNA	SEQ	MLH1_02449	-	-	-
?/?	12	c.1124G>T	-	p.S375I	11.4	0.006	0.0253	Thompson et al., 2013	DNA	SEQ	MLH1_02450	-	-	-
?/?	12	c.1125T>A	-	p.S375R	23.79	0.04	0.1376	Thompson et al., 2013	DNA	SEQ	MLH1_02451	-	-	-
?/?	12	c.1125T>G	-	p.S375R	23.79	0.04	0.1376	Thompson et al., 2013	DNA	SEQ	MLH1_02452	-	-	-
?/?	12	c.1126G>A	-	p.D376N	2.06	0.041	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02453	-	-	-
?/?	12	c.1126G>C	-	p.D376H	3.75	0.22	0.0052	Thompson et al., 2013	DNA	SEQ	MLH1_02454	-	-	-
?/?	12	c.1126G>T	-	p.D376Y	5.63	0.255	0.0149	Thompson et al., 2013	DNA	SEQ	MLH1_02455	-	-	-
?/?	12	c.1127A>C	-	p.D376A	4.25	0.006	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02456	-	-	-
?/?	12	c.1127A>G	-	p.D376G	4.46	0.041	0.0036	Thompson et al., 2013	DNA	SEQ	MLH1_02457	-	-	-
?/?	12	c.1127A>T	-	p.D376V	5.38	0.041	0.0055	Thompson et al., 2013	DNA	SEQ	MLH1_02458	-	-	-
?/?	12	c.1128T>A	-	p.D376E	2.77	0.002	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02459	-	-	-
?/?	12	c.1128T>G	-	p.D376E	2.77	0.002	0.001	Thompson et al., 2013	DNA	SEQ	MLH1_02460	-	-	-
?/?	12	c.1129A>C	-	p.K377Q	2.93	0.017	0.0012	Thompson et al., 2013	DNA	SEQ	MLH1_02461	-	-	-
?/?	12	c.1129A>G	-	p.K377E	6.11	0.073	0.0083	Thompson et al., 2013	DNA	SEQ	MLH1_02462	-	-	-
?/?	12	c.1130A>C	-	p.K377T	8.8	0.104	0.0215	Thompson et al., 2013	DNA	SEQ	MLH1_02463	-	-	-
?/?	12	c.1130A>G	-	p.K377R	2.15	0.003	0.0006	Thompson et al., 2013	DNA	SEQ	MLH1_02464	-	-	-
?/?	12	c.1130A>T	-	p.K377M	14.15	0.277	0.1187	Thompson et al., 2013	DNA	SEQ	MLH1_02465	-	-	-
?/?	12	c.1131G>C	-	p.K377N	4.21	0.017	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02466	-	-	-
?/?	12	c.1131G>T	-	p.K377N	4.21	0.017	0.0028	Thompson et al., 2013	DNA	SEQ	MLH1_02467	-	-	-
?/?	12	c.1132G>A	-	p.V378I	6.47	0.004	0.0071	Thompson et al., 2013	DNA	SEQ	MLH1_02468	-	-	-
?/?	12	c.1132G>C	-	p.V378L	10.97	0.014	0.024	Thompson et al., 2013	DNA	SEQ	MLH1_02469	-	-	-
?/?	12	c.1132G>T	-	p.V378F	10.99	0.297	0.0763	Thompson et al., 2013	DNA	SEQ	MLH1_02470	-	-	-
?/?	12	c.1133T>A	-	p.V378D	36.69	0.412	0.6754	Thompson et al., 2013	DNA	SEQ	MLH1_02471	-	-	-
?/?	12	c.1133T>C	-	p.V378A	13.58	0.042	0.0431	Thompson et al., 2013	DNA	SEQ	MLH1_02472	-	-	-
?/?	12	c.1133T>G	-	p.V378G	10.23	0.235	0.0512	Thompson et al., 2013	DNA	SEQ	MLH1_02473	-	-	-
?/?	12	c.1135T>A	-	p.Y379N	8.25	0.376	0.0569	Thompson et al., 2013	DNA	SEQ	MLH1_02474	-	-	-
?/?	12	c.1135T>C	-	p.Y379H	13.18	0.024	0.0375	Thompson et al., 2013	DNA	SEQ	MLH1_02475	-	-	-
?/?	12	c.1135T>G	-	p.Y379D	33.63	0.079	0.2925	Thompson et al., 2013	DNA	SEQ	MLH1_02476	-	-	-
?/?	12	c.1136A>C	-	p.Y379S	6.81	0.024	0.0086	Thompson et al., 2013	DNA	SEQ	MLH1_02477	-	-	-
?/?	12	c.1136A>G	-	p.Y379C	20.19	0.522	0.4615	Thompson et al., 2013	DNA	SEQ	MLH1_02478	-	-	-
?/?	12	c.1136A>T	-	p.Y379F	20.69	0.024	0.0979	Thompson et al., 2013	DNA	SEQ	MLH1_02479	-	-	-
?/?	12	c.1138G>A	-	p.A380T	11	0.798	0.4116	Thompson et al., 2013	DNA	SEQ	MLH1_02480	-	-	-
?/?	12	c.1138G>C	-	p.A380P	12.98	0.092	0.0479	Thompson et al., 2013	DNA	SEQ	MLH1_02481	-	-	-
?/?	12	c.1138G>T	-	p.A380S	6.91	0.728	0.153	Thompson et al., 2013	DNA	SEQ	MLH1_02482	-	-	-
?/?	12	c.1139C>A	-	p.A380D	7.07	0.055	0.0107	Thompson et al., 2013	DNA	SEQ	MLH1_02483	-	-	-
?/?	12	c.1139C>G	-	p.A380G	7.26	0.728	0.1682	Thompson et al., 2013	DNA	SEQ	MLH1_02484	-	-	-
?/?	12	c.1139C>T	-	p.A380V	14.14	0.879	0.6359	Thompson et al., 2013	DNA	SEQ	MLH1_02485	-	-	-
?/?	12	c.1141C>A	-	p.H381N	8.03	0.011	0.0118	Thompson et al., 2013	DNA	SEQ	MLH1_02486	-	-	-
?/?	12	c.1141C>G	-	p.H381D	22.21	0.067	0.1328	Thompson et al., 2013	DNA	SEQ	MLH1_02487	-	-	-
?/?	12	c.1141C>T	-	p.H381Y	8.35	0.001	0.0124	Thompson et al., 2013	DNA	SEQ	MLH1_02488	-	-	-
?/?	12	c.1142A>C	-	p.H381P	22.73	0.179	0.2064	Thompson et al., 2013	DNA	SEQ	MLH1_02489	-	-	-
?/?	12	c.1142A>G	-	p.H381R	23.52	0.003	0.1172	Thompson et al., 2013	DNA	SEQ	MLH1_02490	-	-	-
?/?	12	c.1142A>T	-	p.H381L	21.82	0.067	0.1282	Thompson et al., 2013	DNA	SEQ	MLH1_02491	-	-	-
?/?	12	c.1143C>A	-	p.H381Q	6.12	0.006	0.0063	Thompson et al., 2013	DNA	SEQ	MLH1_02492	-	-	-
?/?	12	c.1143C>G	-	p.H381Q	6.12	0.006	0.0063	Thompson et al., 2013	DNA	SEQ	MLH1_02493	-	-	-
?/?	12	c.1144C>A	-	p.Q382K	14.81	0.013	0.0463	Thompson et al., 2013	DNA	SEQ	MLH1_02494	-	-	-
?/?	12	c.1144C>G	-	p.Q382E	13.18	0.022	0.0372	Thompson et al., 2013	DNA	SEQ	MLH1_02495	-	-	-
?/?	12	c.1145A>C	-	p.Q382P	17.81	0.444	0.3162	Thompson et al., 2013	DNA	SEQ	MLH1_02496	-	-	-
?/?	12	c.1145A>G	-	p.Q382R	22.8	0.208	0.2286	Thompson et al., 2013	DNA	SEQ	MLH1_02497	-	-	-
?/?	12	c.1145A>T	-	p.Q382L	24.78	0.325	0.3708	Thompson et al., 2013	DNA	SEQ	MLH1_02498	-	-	-
?/?	12	c.1146G>C	-	p.Q382H	4.22	0.019	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02499	-	-	-
?/?	12	c.1146G>T	-	p.Q382H	4.22	0.019	0.0029	Thompson et al., 2013	DNA	SEQ	MLH1_02500	-	-	-

2401 - 2500
[<<] [<-] ... 20 21 22 23 24 25 26 27 28 29 30 ... [->] [>>]

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)