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.4010G>T	-	p.C1337F	0.002	2.55	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_08801	-	-	-
?/?	10	c.4011C>G	-	p.C1337W	0.622	4.41	0.0399	Thompson et al., 2013	DNA	SEQ	MSH6_08802	-	-	-
?/?	10	c.4012C>A	-	p.L1338M	0.037	2.02	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_08803	-	-	-
?/?	10	c.4012C>G	-	p.L1338V	0.015	5.62	0.0054	Thompson et al., 2013	DNA	SEQ	MSH6_08804	-	-	-
?/?	10	c.4013T>A	-	p.L1338Q	0.015	2.64	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_08805	-	-	-
?/?	10	c.4013T>C	-	p.L1338P	0.107	8.69	0.0211	Thompson et al., 2013	DNA	SEQ	MSH6_08806	-	-	-
?/?	10	c.4013T>G	-	p.L1338R	0.015	3.13	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_08807	-	-	-
?/?	10	c.4015G>A	-	p.A1339T	0.008	4.27	0.0028	Thompson et al., 2013	DNA	SEQ	MSH6_08808	-	-	-
?/?	10	c.4015G>C	-	p.A1339P	0.350	11.31	0.0995	Thompson et al., 2013	DNA	SEQ	MSH6_08809	-	-	-
?/?	10	c.4015G>T	-	p.A1339S	0.009	3.46	0.0018	Thompson et al., 2013	DNA	SEQ	MSH6_08810	-	-	-
?/?	10	c.4016C>A	-	p.A1339D	0.037	9.79	0.0206	Thompson et al., 2013	DNA	SEQ	MSH6_08811	-	-	-
?/?	10	c.4016C>G	-	p.A1339G	0.025	4.97	0.0043	Thompson et al., 2013	DNA	SEQ	MSH6_08812	-	-	-
?/?	10	c.4016C>T	-	p.A1339V	0.002	4.16	0.0026	Thompson et al., 2013	DNA	SEQ	MSH6_08813	-	-	-
?/?	10	c.4018A>C	-	p.S1340R	0.041	32.56	0.2462	Thompson et al., 2013	DNA	SEQ	MSH6_08814	-	-	-
?/?	10	c.4018A>G	-	p.S1340G	0.005	2.70	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_08815	-	-	-
?/?	10	c.4018A>T	-	p.S1340C	0.009	1.61	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08816	-	-	-
?/?	10	c.4019G>A	-	p.S1340N	0.005	10.79	0.0223	Thompson et al., 2013	DNA	SEQ	MSH6_08817	-	-	-
?/?	10	c.4019G>C	-	p.S1340T	0.000	2.29	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_08818	-	-	-
?/?	10	c.4019G>T	-	p.S1340I	0.009	2.61	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_08819	-	-	-
?/?	10	c.4020T>A	-	p.S1340R	0.041	32.56	0.2462	Thompson et al., 2013	DNA	SEQ	MSH6_08820	-	-	-
?/?	10	c.4020T>G	-	p.S1340R	0.041	32.56	0.2462	Thompson et al., 2013	DNA	SEQ	MSH6_08821	-	-	-
?/?	10	c.4021G>A	-	p.E1341K	0.009	3.72	0.0021	Thompson et al., 2013	DNA	SEQ	MSH6_08822	-	-	-
?/?	10	c.4021G>C	-	p.E1341Q	0.037	2.67	0.0011	Thompson et al., 2013	DNA	SEQ	MSH6_08823	-	-	-
?/?	10	c.4022A>C	-	p.E1341A	0.012	6.86	0.0083	Thompson et al., 2013	DNA	SEQ	MSH6_08824	-	-	-
?/?	10	c.4022A>G	-	p.E1341G	0.005	4.21	0.0027	Thompson et al., 2013	DNA	SEQ	MSH6_08825	-	-	-
?/?	10	c.4022A>T	-	p.E1341V	0.064	11.95	0.0357	Thompson et al., 2013	DNA	SEQ	MSH6_08826	-	-	-
?/?	10	c.4023A>C	-	p.E1341D	0.002	2.62	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_08827	-	-	-
?/?	10	c.4023A>T	-	p.E1341D	0.002	2.62	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_08828	-	-	-
?/?	10	c.4024A>G	-	p.R1342G	0.002	1.66	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08829	-	-	-
?/?	10	c.4024A>T	-	p.R1342W	0.219	3.57	0.0046	Thompson et al., 2013	DNA	SEQ	MSH6_08830	-	-	-
?/?	10	c.4025G>A	-	p.R1342K	0.001	2.89	0.0011	Thompson et al., 2013	DNA	SEQ	MSH6_08831	-	-	-
?/?	10	c.4025G>C	-	p.R1342T	0.005	2.48	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_08832	-	-	-
?/?	10	c.4025G>T	-	p.R1342M	0.024	2.02	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_08833	-	-	-
?/?	10	c.4026G>C	-	p.R1342S	0.002	1.60	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08834	-	-	-
?/?	10	c.4026G>T	-	p.R1342S	0.002	1.60	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08835	-	-	-
?/?	10	c.4027T>A	-	p.S1343T	0.001	2.04	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_08836	-	-	-
?/?	10	c.4027T>C	-	p.S1343P	0.001	2.30	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_08837	-	-	-
?/?	10	c.4027T>G	-	p.S1343A	0.003	3.17	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_08838	-	-	-
?/?	10	c.4028C>T	-	p.S1343L	0.001	4.58	0.0032	Thompson et al., 2013	DNA	SEQ	MSH6_08839	-	-	-
?/?	10	c.4030A>C	-	p.T1344P	0.017	9.51	0.0177	Thompson et al., 2013	DNA	SEQ	MSH6_08840	-	-	-
?/?	10	c.4030A>G	-	p.T1344A	0.014	7.62	0.0107	Thompson et al., 2013	DNA	SEQ	MSH6_08841	-	-	-
?/?	10	c.4030A>T	-	p.T1344S	0.003	1.20	0.0002	Thompson et al., 2013	DNA	SEQ	MSH6_08842	-	-	-
?/?	10	c.4031C>A	-	p.T1344N	0.024	3.78	0.0023	Thompson et al., 2013	DNA	SEQ	MSH6_08843	-	-	-
?/?	10	c.4031C>G	-	p.T1344S	0.003	1.20	0.0002	Thompson et al., 2013	DNA	SEQ	MSH6_08844	-	-	-
?/?	10	c.4031C>T	-	p.T1344I	0.016	7.66	0.0109	Thompson et al., 2013	DNA	SEQ	MSH6_08845	-	-	-
?/?	10	c.4033G>A	-	p.V1345I	0.001	1.90	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_08846	-	-	-
?/?	10	c.4033G>C	-	p.V1345L	0.001	2.37	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_08847	-	-	-
?/?	10	c.4033G>T	-	p.V1345L	0.001	2.37	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_08848	-	-	-
?/?	10	c.4034T>A	-	p.V1345E	0.002	9.80	0.0178	Thompson et al., 2013	DNA	SEQ	MSH6_08849	-	-	-
?/?	10	c.4034T>C	-	p.V1345A	0.001	2.99	0.0012	Thompson et al., 2013	DNA	SEQ	MSH6_08850	-	-	-
?/?	10	c.4034T>G	-	p.V1345G	0.003	1.98	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_08851	-	-	-
?/?	10	c.4036G>A	-	p.D1346N	0.001	1.83	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_08852	-	-	-
?/?	10	c.4036G>C	-	p.D1346H	0.120	2.84	0.0018	Thompson et al., 2013	DNA	SEQ	MSH6_08853	-	-	-
?/?	10	c.4036G>T	-	p.D1346Y	0.056	3.77	0.0026	Thompson et al., 2013	DNA	SEQ	MSH6_08854	-	-	-
?/?	10	c.4037A>C	-	p.D1346A	0.002	4.25	0.0027	Thompson et al., 2013	DNA	SEQ	MSH6_08855	-	-	-
?/?	10	c.4037A>G	-	p.D1346G	0.012	4.40	0.0031	Thompson et al., 2013	DNA	SEQ	MSH6_08856	-	-	-
?/?	10	c.4037A>T	-	p.D1346V	0.002	3.56	0.0018	Thompson et al., 2013	DNA	SEQ	MSH6_08857	-	-	-
?/?	10	c.4038T>A	-	p.D1346E	0.000	2.53	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_08858	-	-	-
?/?	10	c.4038T>G	-	p.D1346E	0.000	2.53	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_08859	-	-	-
?/?	10	c.4039G>A	-	p.A1347T	0.002	2.91	0.0012	Thompson et al., 2013	DNA	SEQ	MSH6_08860	-	-	-
?/?	10	c.4039G>C	-	p.A1347P	0.022	5.33	0.0049	Thompson et al., 2013	DNA	SEQ	MSH6_08861	-	-	-
?/?	10	c.4039G>T	-	p.A1347S	0.000	1.72	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08862	-	-	-
?/?	10	c.4040C>A	-	p.A1347D	0.007	2.88	0.0011	Thompson et al., 2013	DNA	SEQ	MSH6_08863	-	-	-
?/?	10	c.4040C>G	-	p.A1347G	0.000	2.03	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_08864	-	-	-
?/?	10	c.4040C>T	-	p.A1347V	0.001	3.38	0.0016	Thompson et al., 2013	DNA	SEQ	MSH6_08865	-	-	-
?/?	10	c.4042G>A	-	p.E1348K	0.001	3.16	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_08866	-	-	-
?/?	10	c.4042G>C	-	p.E1348Q	0.001	1.50	0.0003	Thompson et al., 2013	DNA	SEQ	MSH6_08867	-	-	-
?/?	10	c.4043A>C	-	p.E1348A	0.000	3.65	0.0019	Thompson et al., 2013	DNA	SEQ	MSH6_08868	-	-	-
?/?	10	c.4043A>G	-	p.E1348G	0.008	3.89	0.0023	Thompson et al., 2013	DNA	SEQ	MSH6_08869	-	-	-
?/?	10	c.4043A>T	-	p.E1348V	0.001	3.50	0.0017	Thompson et al., 2013	DNA	SEQ	MSH6_08870	-	-	-
?/?	10	c.4044A>C	-	p.E1348D	0.000	2.55	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_08871	-	-	-
?/?	10	c.4044A>T	-	p.E1348D	0.000	2.55	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_08872	-	-	-
?/?	10	c.4045G>A	-	p.A1349T	0.190	4.95	0.0085	Thompson et al., 2013	DNA	SEQ	MSH6_08873	-	-	-
?/?	10	c.4045G>C	-	p.A1349P	0.608	16.96	0.4542	Thompson et al., 2013	DNA	SEQ	MSH6_08874	-	-	-
?/?	10	c.4045G>T	-	p.A1349S	0.164	4.68	0.0067	Thompson et al., 2013	DNA	SEQ	MSH6_08875	-	-	-
?/?	10	c.4046C>A	-	p.A1349D	0.100	6.13	0.0094	Thompson et al., 2013	DNA	SEQ	MSH6_08876	-	-	-
?/?	10	c.4046C>G	-	p.A1349G	0.245	7.25	0.0251	Thompson et al., 2013	DNA	SEQ	MSH6_08877	-	-	-
?/?	10	c.4046C>T	-	p.A1349V	0.009	3.67	0.0020	Thompson et al., 2013	DNA	SEQ	MSH6_08878	-	-	-
?/?	10	c.4048G>A	-	p.V1350I	0.001	1.40	0.0002	Thompson et al., 2013	DNA	SEQ	MSH6_08879	-	-	-
?/?	10	c.4048G>C	-	p.V1350L	0.001	2.10	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_08880	-	-	-
?/?	10	c.4048G>T	-	p.V1350F	0.002	3.82	0.0021	Thompson et al., 2013	DNA	SEQ	MSH6_08881	-	-	-
?/?	10	c.4049T>A	-	p.V1350D	0.026	6.59	0.0081	Thompson et al., 2013	DNA	SEQ	MSH6_08882	-	-	-
?/?	10	c.4049T>C	-	p.V1350A	0.009	7.97	0.0115	Thompson et al., 2013	DNA	SEQ	MSH6_08883	-	-	-
?/?	10	c.4049T>G	-	p.V1350G	0.026	10.87	0.0248	Thompson et al., 2013	DNA	SEQ	MSH6_08884	-	-	-
?/?	10	c.4051C>A	-	p.H1351N	0.005	3.64	0.0019	Thompson et al., 2013	DNA	SEQ	MSH6_08885	-	-	-
?/?	10	c.4051C>G	-	p.H1351D	0.001	5.68	0.0052	Thompson et al., 2013	DNA	SEQ	MSH6_08886	-	-	-
?/?	10	c.4051C>T	-	p.H1351Y	0.005	5.38	0.0047	Thompson et al., 2013	DNA	SEQ	MSH6_08887	-	-	-
?/?	10	c.4052A>C	-	p.H1351P	0.000	10.38	0.0201	Thompson et al., 2013	DNA	SEQ	MSH6_08888	-	-	-
?/?	10	c.4052A>G	-	p.H1351R	0.000	2.75	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_08889	-	-	-
?/?	10	c.4052A>T	-	p.H1351L	0.000	6.43	0.0069	Thompson et al., 2013	DNA	SEQ	MSH6_08890	-	-	-
?/?	10	c.4053T>A	-	p.H1351Q	0.009	3.02	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_08891	-	-	-
?/?	10	c.4053T>G	-	p.H1351Q	0.009	3.02	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_08892	-	-	-
?/?	10	c.4054A>C	-	p.K1352Q	0.027	2.20	0.0007	Thompson et al., 2013	DNA	SEQ	MSH6_08893	-	-	-
?/?	10	c.4054A>G	-	p.K1352E	0.002	4.52	0.0031	Thompson et al., 2013	DNA	SEQ	MSH6_08894	-	-	-
?/?	10	c.4055A>C	-	p.K1352T	0.001	3.59	0.0018	Thompson et al., 2013	DNA	SEQ	MSH6_08895	-	-	-
?/?	10	c.4055A>G	-	p.K1352R	0.002	2.12	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_08896	-	-	-
?/?	10	c.4055A>T	-	p.K1352I	0.003	7.73	0.0105	Thompson et al., 2013	DNA	SEQ	MSH6_08897	-	-	-
?/?	10	c.4056A>C	-	p.K1352N	0.001	1.77	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_08898	-	-	-
?/?	10	c.4056A>T	-	p.K1352N	0.001	1.77	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_08899	-	-	-
?/?	10	c.4057T>A	-	p.L1353M	0.334	3.48	0.0071	Thompson et al., 2013	DNA	SEQ	MSH6_08900	-	-	-

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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)