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


?/?	4	c.3007T>C	-	p.C1003R	0.012	28.62	0.1773	Thompson et al., 2013	DNA	SEQ	MSH6_06601	-	-	-
?/?	4	c.3007T>G	-	p.C1003G	0.033	13.46	0.0408	Thompson et al., 2013	DNA	SEQ	MSH6_06602	-	-	-
?/?	4	c.3008G>A	-	p.C1003Y	0.000	4.42	0.0029	Thompson et al., 2013	DNA	SEQ	MSH6_06603	-	-	-
?/?	4	c.3008G>C	-	p.C1003S	0.003	9.16	0.0154	Thompson et al., 2013	DNA	SEQ	MSH6_06604	-	-	-
?/?	4	c.3008G>T	-	p.C1003F	0.000	1.31	0.0002	Thompson et al., 2013	DNA	SEQ	MSH6_06605	-	-	-
?/?	4	c.3009T>G	-	p.C1003W	0.002	4.17	0.0026	Thompson et al., 2013	DNA	SEQ	MSH6_06606	-	-	-
?/?	4	c.3010A>C	-	p.K1004Q	0.520	10.91	0.1736	Thompson et al., 2013	DNA	SEQ	MSH6_06607	-	-	-
?/?	4	c.3010A>G	-	p.K1004E	0.520	20.38	0.4646	Thompson et al., 2013	DNA	SEQ	MSH6_06608	-	-	-
?/?	4	c.3011A>C	-	p.K1004T	0.302	23.37	0.3187	Thompson et al., 2013	DNA	SEQ	MSH6_06609	-	-	-
?/?	4	c.3011A>G	-	p.K1004R	0.294	3.39	0.0056	Thompson et al., 2013	DNA	SEQ	MSH6_06610	-	-	-
?/?	4	c.3011A>T	-	p.K1004I	0.520	26.95	0.6207	Thompson et al., 2013	DNA	SEQ	MSH6_06611	-	-	-
?/?	4	c.3012A>C	-	p.K1004N	0.381	12.79	0.1429	Thompson et al., 2013	DNA	SEQ	MSH6_06612	-	-	-
?/?	4	c.3012A>T	-	p.K1004N	0.381	12.79	0.1429	Thompson et al., 2013	DNA	SEQ	MSH6_06613	-	-	-
?/?	4	c.3013C>G	-	p.R1005G	0.988	10.58	0.5899	Thompson et al., 2013	DNA	SEQ	MSH6_06614	-	-	-
?/?	4	c.3014G>A	-	p.R1005Q	0.998	6.75	0.3512	Thompson et al., 2013	DNA	SEQ	MSH6_06615	-	-	-
?/?	4	c.3014G>C	-	p.R1005P	0.998	33.76	0.9544	Thompson et al., 2013	DNA	SEQ	MSH6_06616	-	-	-
?/?	4	c.3014G>T	-	p.R1005L	0.999	12.45	0.6857	Thompson et al., 2013	DNA	SEQ	MSH6_06617	-	-	-
?/?	4	c.3016T>A	-	p.Y1006N	0.992	20.87	0.8725	Thompson et al., 2013	DNA	SEQ	MSH6_06618	-	-	-
?/?	4	c.3016T>C	-	p.Y1006H	0.992	17.29	0.8169	Thompson et al., 2013	DNA	SEQ	MSH6_06619	-	-	-
?/?	4	c.3016T>G	-	p.Y1006D	0.992	27.70	0.9286	Thompson et al., 2013	DNA	SEQ	MSH6_06620	-	-	-
?/?	4	c.3017A>C	-	p.Y1006S	0.983	16.79	0.8007	Thompson et al., 2013	DNA	SEQ	MSH6_06621	-	-	-
?/?	4	c.3017A>G	-	p.Y1006C	0.992	14.54	0.7507	Thompson et al., 2013	DNA	SEQ	MSH6_06622	-	-	-
?/?	4	c.3017A>T	-	p.Y1006F	0.156	3.53	0.0034	Thompson et al., 2013	DNA	SEQ	MSH6_06623	-	-	-
?/?	4	c.3019T>A	-	p.W1007R	0.083	4.46	0.0043	Thompson et al., 2013	DNA	SEQ	MSH6_06624	-	-	-
?/?	4	c.3019T>C	-	p.W1007R	0.083	4.46	0.0043	Thompson et al., 2013	DNA	SEQ	MSH6_06625	-	-	-
?/?	4	c.3019T>G	-	p.W1007G	0.138	5.48	0.0086	Thompson et al., 2013	DNA	SEQ	MSH6_06626	-	-	-
?/?	4	c.3020G>C	-	p.W1007S	0.026	3.00	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_06627	-	-	-
?/?	4	c.3020G>T	-	p.W1007L	0.138	7.48	0.0172	Thompson et al., 2013	DNA	SEQ	MSH6_06628	-	-	-
?/?	4	c.3021G>C	-	p.W1007C	0.856	6.30	0.2018	Thompson et al., 2013	DNA	SEQ	MSH6_06629	-	-	-
?/?	4	c.3021G>T	-	p.W1007C	0.856	6.30	0.2018	Thompson et al., 2013	DNA	SEQ	MSH6_06630	-	-	-
?/?	4	c.3022A>C	-	p.T1008P	0.631	31.34	0.7872	Thompson et al., 2013	DNA	SEQ	MSH6_06631	-	-	-
?/?	4	c.3022A>G	-	p.T1008A	0.717	25.10	0.7632	Thompson et al., 2013	DNA	SEQ	MSH6_06632	-	-	-
?/?	4	c.3022A>T	-	p.T1008S	0.357	2.66	0.0042	Thompson et al., 2013	DNA	SEQ	MSH6_06633	-	-	-
?/?	4	c.3023C>A	-	p.T1008N	0.717	11.17	0.3390	Thompson et al., 2013	DNA	SEQ	MSH6_06634	-	-	-
?/?	4	c.3023C>G	-	p.T1008S	0.357	2.66	0.0042	Thompson et al., 2013	DNA	SEQ	MSH6_06635	-	-	-
?/?	4	c.3023C>T	-	p.T1008I	0.943	34.31	0.9449	Thompson et al., 2013	DNA	SEQ	MSH6_06636	-	-	-
?/?	4	c.3025A>C	-	p.K1009Q	0.138	2.35	0.0013	Thompson et al., 2013	DNA	SEQ	MSH6_06637	-	-	-
?/?	4	c.3025A>G	-	p.K1009E	0.048	3.70	0.0024	Thompson et al., 2013	DNA	SEQ	MSH6_06638	-	-	-
?/?	4	c.3026A>C	-	p.K1009T	0.051	2.88	0.0014	Thompson et al., 2013	DNA	SEQ	MSH6_06639	-	-	-
?/?	4	c.3026A>G	-	p.K1009R	0.086	2.93	0.0017	Thompson et al., 2013	DNA	SEQ	MSH6_06640	-	-	-
?/?	4	c.3026A>T	-	p.K1009I	0.520	8.69	0.1114	Thompson et al., 2013	DNA	SEQ	MSH6_06641	-	-	-
?/?	4	c.3027A>C	-	p.K1009N	0.138	2.07	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_06642	-	-	-
?/?	4	c.3027A>T	-	p.K1009N	0.138	2.07	0.0009	Thompson et al., 2013	DNA	SEQ	MSH6_06643	-	-	-
?/?	4	c.3028A>C	-	p.T1010P	0.028	5.54	0.0055	Thompson et al., 2013	DNA	SEQ	MSH6_06644	-	-	-
?/?	4	c.3028A>G	-	p.T1010A	0.002	4.29	0.0028	Thompson et al., 2013	DNA	SEQ	MSH6_06645	-	-	-
?/?	4	c.3028A>T	-	p.T1010S	0.003	2.77	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_06646	-	-	-
?/?	4	c.3029C>A	-	p.T1010N	0.016	1.80	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_06647	-	-	-
?/?	4	c.3029C>G	-	p.T1010S	0.003	2.77	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_06648	-	-	-
?/?	4	c.3029C>T	-	p.T1010I	0.011	5.66	0.0054	Thompson et al., 2013	DNA	SEQ	MSH6_06649	-	-	-
?/?	4	c.3031A>C	-	p.I1011L	0.080	10.17	0.0268	Thompson et al., 2013	DNA	SEQ	MSH6_06650	-	-	-
?/?	4	c.3031A>G	-	p.I1011V	0.024	5.97	0.0064	Thompson et al., 2013	DNA	SEQ	MSH6_06651	-	-	-
?/?	4	c.3031A>T	-	p.I1011F	0.886	8.76	0.3777	Thompson et al., 2013	DNA	SEQ	MSH6_06652	-	-	-
?/?	4	c.3032T>A	-	p.I1011N	0.886	15.45	0.6876	Thompson et al., 2013	DNA	SEQ	MSH6_06653	-	-	-
?/?	4	c.3032T>C	-	p.I1011T	0.044	14.42	0.0495	Thompson et al., 2013	DNA	SEQ	MSH6_06654	-	-	-
?/?	4	c.3032T>G	-	p.I1011S	0.140	13.65	0.0647	Thompson et al., 2013	DNA	SEQ	MSH6_06655	-	-	-
?/?	4	c.3033T>G	-	p.I1011M	0.825	14.88	0.6091	Thompson et al., 2013	DNA	SEQ	MSH6_06656	-	-	-
?/?	4	c.3034G>A	-	p.E1012K	0.014	3.59	0.0019	Thompson et al., 2013	DNA	SEQ	MSH6_06657	-	-	-
?/?	4	c.3034G>C	-	p.E1012Q	0.191	4.73	0.0077	Thompson et al., 2013	DNA	SEQ	MSH6_06658	-	-	-
?/?	4	c.3035A>C	-	p.E1012A	0.119	19.27	0.1216	Thompson et al., 2013	DNA	SEQ	MSH6_06659	-	-	-
?/?	4	c.3035A>G	-	p.E1012G	0.219	10.72	0.0530	Thompson et al., 2013	DNA	SEQ	MSH6_06660	-	-	-
?/?	4	c.3035A>T	-	p.E1012V	0.014	26.81	0.1578	Thompson et al., 2013	DNA	SEQ	MSH6_06661	-	-	-
?/?	4	c.3036A>C	-	p.E1012D	0.086	4.00	0.0034	Thompson et al., 2013	DNA	SEQ	MSH6_06662	-	-	-
?/?	4	c.3036A>T	-	p.E1012D	0.086	4.00	0.0034	Thompson et al., 2013	DNA	SEQ	MSH6_06663	-	-	-
?/?	4	c.3037A>C	-	p.K1013Q	0.069	2.38	0.0010	Thompson et al., 2013	DNA	SEQ	MSH6_06664	-	-	-
?/?	4	c.3037A>G	-	p.K1013E	0.048	3.20	0.0017	Thompson et al., 2013	DNA	SEQ	MSH6_06665	-	-	-
?/?	4	c.3038A>C	-	p.K1013T	0.051	3.98	0.0029	Thompson et al., 2013	DNA	SEQ	MSH6_06666	-	-	-
?/?	4	c.3038A>G	-	p.K1013R	0.086	1.73	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_06667	-	-	-
?/?	4	c.3038A>T	-	p.K1013M	0.782	3.15	0.0368	Thompson et al., 2013	DNA	SEQ	MSH6_06668	-	-	-
?/?	4	c.3039G>C	-	p.K1013N	0.083	2.08	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_06669	-	-	-
?/?	4	c.3039G>T	-	p.K1013N	0.083	2.08	0.0008	Thompson et al., 2013	DNA	SEQ	MSH6_06670	-	-	-
?/?	4	c.3040A>C	-	p.K1014Q	0.050	4.85	0.0045	Thompson et al., 2013	DNA	SEQ	MSH6_06671	-	-	-
?/?	4	c.3040A>G	-	p.K1014E	0.084	9.03	0.0209	Thompson et al., 2013	DNA	SEQ	MSH6_06672	-	-	-
?/?	4	c.3041A>C	-	p.K1014T	0.011	14.87	0.0463	Thompson et al., 2013	DNA	SEQ	MSH6_06673	-	-	-
?/?	4	c.3041A>G	-	p.K1014R	0.139	3.16	0.0025	Thompson et al., 2013	DNA	SEQ	MSH6_06674	-	-	-
?/?	4	c.3041A>T	-	p.K1014M	0.006	1.99	0.0005	Thompson et al., 2013	DNA	SEQ	MSH6_06675	-	-	-
?/?	4	c.3042G>C	-	p.K1014N	0.084	11.32	0.0344	Thompson et al., 2013	DNA	SEQ	MSH6_06676	-	-	-
?/?	4	c.3042G>T	-	p.K1014N	0.084	11.32	0.0344	Thompson et al., 2013	DNA	SEQ	MSH6_06677	-	-	-
?/?	4	c.3043T>A	-	p.L1015M	0.331	5.94	0.0231	Thompson et al., 2013	DNA	SEQ	MSH6_06678	-	-	-
?/?	4	c.3043T>G	-	p.L1015V	0.010	7.54	0.0102	Thompson et al., 2013	DNA	SEQ	MSH6_06679	-	-	-
?/?	4	c.3044T>C	-	p.L1015S	0.159	9.92	0.0351	Thompson et al., 2013	DNA	SEQ	MSH6_06680	-	-	-
?/?	4	c.3044T>G	-	p.L1015W	0.871	9.78	0.4223	Thompson et al., 2013	DNA	SEQ	MSH6_06681	-	-	-
?/?	4	c.3045G>C	-	p.L1015F	0.052	4.06	0.0030	Thompson et al., 2013	DNA	SEQ	MSH6_06682	-	-	-
?/?	4	c.3045G>T	-	p.L1015F	0.052	4.06	0.0030	Thompson et al., 2013	DNA	SEQ	MSH6_06683	-	-	-
?/?	4	c.3046G>A	-	p.A1016T	0.005	13.19	0.0348	Thompson et al., 2013	DNA	SEQ	MSH6_06684	-	-	-
?/?	4	c.3046G>C	-	p.A1016P	0.154	13.97	0.0719	Thompson et al., 2013	DNA	SEQ	MSH6_06685	-	-	-
?/?	4	c.3046G>T	-	p.A1016S	0.004	4.82	0.0036	Thompson et al., 2013	DNA	SEQ	MSH6_06686	-	-	-
?/?	4	c.3047C>A	-	p.A1016D	0.037	7.37	0.0109	Thompson et al., 2013	DNA	SEQ	MSH6_06687	-	-	-
?/?	4	c.3047C>G	-	p.A1016G	0.002	2.21	0.0006	Thompson et al., 2013	DNA	SEQ	MSH6_06688	-	-	-
?/?	4	c.3047C>T	-	p.A1016V	0.063	21.34	0.1209	Thompson et al., 2013	DNA	SEQ	MSH6_06689	-	-	-
?/?	4	c.3049A>C	-	p.N1017H	0.007	3.26	0.0015	Thompson et al., 2013	DNA	SEQ	MSH6_06690	-	-	-
?/?	4	c.3049A>G	-	p.N1017D	0.000	1.86	0.0004	Thompson et al., 2013	DNA	SEQ	MSH6_06691	-	-	-
?/?	4	c.3049A>T	-	p.N1017Y	0.022	4.51	0.0034	Thompson et al., 2013	DNA	SEQ	MSH6_06692	-	-	-
?/?	4	c.3050A>C	-	p.N1017T	0.001	3.82	0.0021	Thompson et al., 2013	DNA	SEQ	MSH6_06693	-	-	-
?/?	4	c.3050A>G	-	p.N1017S	0.001	3.94	0.0023	Thompson et al., 2013	DNA	SEQ	MSH6_06694	-	-	-
?/?	4	c.3050A>T	-	p.N1017I	0.013	4.25	0.0028	Thompson et al., 2013	DNA	SEQ	MSH6_06695	-	-	-
?/?	4	c.3051T>A	-	p.N1017K	0.001	3.96	0.0023	Thompson et al., 2013	DNA	SEQ	MSH6_06696	-	-	-
?/?	4	c.3051T>G	-	p.N1017K	0.001	3.96	0.0023	Thompson et al., 2013	DNA	SEQ	MSH6_06697	-	-	-
?/?	4	c.3052C>A	-	p.L1018I	0.535	14.11	0.2865	Thompson et al., 2013	DNA	SEQ	MSH6_06698	-	-	-
?/?	4	c.3052C>G	-	p.L1018V	0.184	19.19	0.1532	Thompson et al., 2013	DNA	SEQ	MSH6_06699	-	-	-
?/?	4	c.3052C>T	-	p.L1018F	0.546	7.63	0.0944	Thompson et al., 2013	DNA	SEQ	MSH6_06700	-	-	-

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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)