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 MSH6_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 MSH6_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 MSH6_priors full legend here.

8948 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

Custom PP2.1 score

MAPP score

MAPP/PP2 Prior P

Reference

Template

Technique

DB-ID

Disease

Reference

Remarks


?/?	10	c.4057T>G	-	p.L1353V	0.005	10.38	0.0205	Thompson et al., 2013	DNA	SEQ	MSH6_08901	-	-	-
?/?	10	c.4058T>C	-	p.L1353S	0.042	21.40	0.1123	Thompson et al., 2013	DNA	SEQ	MSH6_08902	-	-	-
?/?	10	c.4058T>G	-	p.L1353W	0.649	17.16	0.5043	Thompson et al., 2013	DNA	SEQ	MSH6_08903	-	-	-
?/?	10	c.4059G>C	-	p.L1353F	0.377	7.56	0.0473	Thompson et al., 2013	DNA	SEQ	MSH6_08904	-	-	-
?/?	10	c.4059G>T	-	p.L1353F	0.377	7.56	0.0473	Thompson et al., 2013	DNA	SEQ	MSH6_08905	-	-	-
?/?	10	c.4060C>A	-	p.L1354M	0.047	3.08	0.0016	Thompson et al., 2013	DNA	SEQ	MSH6_08906	-	-	-
?/?	10	c.4060C>G	-	p.L1354V	0.077	3.55	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_08907	-	-	-
?/?	10	c.4061T>A	-	p.L1354Q	0.573	1.82	0.0045	Thompson et al., 2013	DNA	SEQ	MSH6_08908	-	-	-
?/?	10	c.4061T>C	-	p.L1354P	0.447	12.58	0.1754	Thompson et al., 2013	DNA	SEQ	MSH6_08909	-	-	-
?/?	10	c.4061T>G	-	p.L1354R	0.573	23.63	0.6035	Thompson et al., 2013	DNA	SEQ	MSH6_08910	-	-	-
?/?	10	c.4063A>C	-	p.T1355P	0.015	8.65	0.0142	Thompson et al., 2013	DNA	SEQ	MSH6_08911	-	-	-
?/?	10	c.4063A>G	-	p.T1355A	0.001	4.49	0.0031	Thompson et al., 2013	DNA	SEQ	MSH6_08912	-	-	-
?/?	10	c.4063A>T	-	p.T1355S	0.009	1.81	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_08913	-	-	-
?/?	10	c.4064C>A	-	p.T1355N	0.005	2.48	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_08914	-	-	-
?/?	10	c.4064C>G	-	p.T1355S	0.009	1.81	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_08915	-	-	-
?/?	10	c.4064C>T	-	p.T1355I	0.005	4.92	0.0038	Thompson et al., 2013	DNA	SEQ	MSH6_08916	-	-	-
?/?	10	c.4066T>A	-	p.L1356M	0.005	1.44	0.0002	Thompson et al., 2013	DNA	SEQ	MSH6_08917	-	-	-
?/?	10	c.4066T>G	-	p.L1356V	0.002	4.54	0.0032	Thompson et al., 2013	DNA	SEQ	MSH6_08918	-	-	-
?/?	10	c.4067T>C	-	p.L1356S	0.003	4.42	0.0030	Thompson et al., 2013	DNA	SEQ	MSH6_08919	-	-	-
?/?	10	c.4067T>G	-	p.L1356W	0.388	5.26	0.0223	Thompson et al., 2013	DNA	SEQ	MSH6_08920	-	-	-
?/?	10	c.4068G>C	-	p.L1356F	0.175	2.96	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_08921	-	-	-
?/?	10	c.4068G>T	-	p.L1356F	0.175	2.96	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_08922	-	-	-
?/?	10	c.4069A>C	-	p.I1357L	0.000	2.61	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_08923	-	-	-
?/?	10	c.4069A>G	-	p.I1357V	0.000	5.03	0.0039	Thompson et al., 2013	DNA	SEQ	MSH6_08924	-	-	-
?/?	10	c.4069A>T	-	p.I1357F	0.027	4.41	0.0033	Thompson et al., 2013	DNA	SEQ	MSH6_08925	-	-	-
?/?	10	c.4070T>A	-	p.I1357N	0.044	6.63	0.0088	Thompson et al., 2013	DNA	SEQ	MSH6_08926	-	-	-
?/?	10	c.4070T>C	-	p.I1357T	0.006	8.14	0.0120	Thompson et al., 2013	DNA	SEQ	MSH6_08927	-	-	-
?/?	10	c.4070T>G	-	p.I1357S	0.015	9.82	0.0189	Thompson et al., 2013	DNA	SEQ	MSH6_08928	-	-	-
?/?	10	c.4071T>G	-	p.I1357M	0.004	4.10	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_08929	-	-	-
?/?	10	c.4072A>C	-	p.K1358Q	0.001	1.71	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08930	-	-	-
?/?	10	c.4072A>G	-	p.K1358E	0.001	2.61	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_08931	-	-	-
?/?	10	c.4073A>C	-	p.K1358T	0.007	8.01	0.0116	Thompson et al., 2013	DNA	SEQ	MSH6_08932	-	-	-
?/?	10	c.4073A>G	-	p.K1358R	0.001	3.28	0.0015	Thompson et al., 2013	DNA	SEQ	MSH6_08933	-	-	-
?/?	10	c.4073A>T	-	p.K1358M	0.047	5.07	0.0049	Thompson et al., 2013	DNA	SEQ	MSH6_08934	-	-	-
?/?	10	c.4074G>C	-	p.K1358N	0.001	4.24	0.0027	Thompson et al., 2013	DNA	SEQ	MSH6_08935	-	-	-
?/?	10	c.4074G>T	-	p.K1358N	0.001	4.24	0.0027	Thompson et al., 2013	DNA	SEQ	MSH6_08936	-	-	-
?/?	10	c.4075G>A	-	p.E1359K	0.004	2.15	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_08937	-	-	-
?/?	10	c.4075G>C	-	p.E1359Q	0.006	2.08	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_08938	-	-	-
?/?	10	c.4076A>C	-	p.E1359A	0.026	9.90	0.0201	Thompson et al., 2013	DNA	SEQ	MSH6_08939	-	-	-
?/?	10	c.4076A>G	-	p.E1359G	0.001	5.55	0.0049	Thompson et al., 2013	DNA	SEQ	MSH6_08940	-	-	-
?/?	10	c.4076A>T	-	p.E1359V	0.003	13.91	0.0387	Thompson et al., 2013	DNA	SEQ	MSH6_08941	-	-	-
?/?	10	c.4077A>C	-	p.E1359D	0.026	3.55	0.0020	Thompson et al., 2013	DNA	SEQ	MSH6_08942	-	-	-
?/?	10	c.4077A>T	-	p.E1359D	0.026	3.55	0.0020	Thompson et al., 2013	DNA	SEQ	MSH6_08943	-	-	-
?/?	10	c.4078T>A	-	p.L1360I	0.684	3.85	0.0382	Thompson et al., 2013	DNA	SEQ	MSH6_08944	-	-	-
?/?	10	c.4078T>G	-	p.L1360V	0.594	6.17	0.0732	Thompson et al., 2013	DNA	SEQ	MSH6_08945	-	-	-
?/?	10	c.4079T>C	-	p.L1360S	0.464	3.70	0.0140	Thompson et al., 2013	DNA	SEQ	MSH6_08946	-	-	-
?/?	10	c.4080A>C	-	p.L1360F	0.798	3.02	0.0359	Thompson et al., 2013	DNA	SEQ	MSH6_08947	-	-	-
?/?	10	c.4080A>T	-	p.L1360F	0.798	3.02	0.0359	Thompson et al., 2013	DNA	SEQ	MSH6_08948	-	-	-

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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: [ MSH6_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. Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP score: output score from MAPP 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. MSH6 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 MSH6 priors (MSH6_priors)