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 PMS2_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 PMS2_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 PMS2_priors full legend here.

5735 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


?/?	13	c.2219T>A	-	p.I740K	0.878	34.67	0.9302	Thompson et al., 2013	DNA	SEQ	PMS2_04901	-	-	-
?/?	13	c.2219T>C	-	p.I740T	0.759	16.31	0.5916	Thompson et al., 2013	DNA	SEQ	PMS2_04903	-	-	-
?/?	13	c.2219T>G	-	p.I740R	0.812	42.37	0.9407	Thompson et al., 2013	DNA	SEQ	PMS2_04902	-	-	-
?/?	13	c.2220A>G	-	p.I740M	0.209	4.22	0.0064	Thompson et al., 2013	DNA	SEQ	PMS2_04904	-	-	-
?/?	13	c.2221G>A	-	p.E741K	0.956	18.39	0.8149	Thompson et al., 2013	DNA	SEQ	PMS2_04905	-	-	-
?/?	13	c.2221G>C	-	p.E741Q	0.985	13.93	0.7262	Thompson et al., 2013	DNA	SEQ	PMS2_04906	-	-	-
?/?	13	c.2222A>C	-	p.E741A	0.973	22.87	0.8859	Thompson et al., 2013	DNA	SEQ	PMS2_04907	-	-	-
?/?	13	c.2222A>G	-	p.E741G	0.975	18.11	0.8218	Thompson et al., 2013	DNA	SEQ	PMS2_04908	-	-	-
?/?	13	c.2222A>T	-	p.E741V	0.989	26.14	0.9184	Thompson et al., 2013	DNA	SEQ	PMS2_04909	-	-	-
?/?	13	c.2223A>C	-	p.E741D	0.240	2.42	0.0021	Thompson et al., 2013	DNA	SEQ	PMS2_04910	-	-	-
?/?	13	c.2223A>T	-	p.E741D	0.240	2.42	0.0021	Thompson et al., 2013	DNA	SEQ	PMS2_04911	-	-	-
?/?	13	c.2224A>C	-	p.N742H	0.999	9.74	0.5555	Thompson et al., 2013	DNA	SEQ	PMS2_04913	-	-	-
?/?	13	c.2224A>G	-	p.N742D	0.954	6.27	0.2751	Thompson et al., 2013	DNA	SEQ	PMS2_04912	-	-	-
?/?	13	c.2224A>T	-	p.N742Y	0.999	19.03	0.8511	Thompson et al., 2013	DNA	SEQ	PMS2_04914	-	-	-
?/?	13	c.2225A>C	-	p.N742T	0.996	13.69	0.7277	Thompson et al., 2013	DNA	SEQ	PMS2_04917	-	-	-
?/?	13	c.2225A>G	-	p.N742S	0.994	11.57	0.6439	Thompson et al., 2013	DNA	SEQ	PMS2_04916	-	-	-
?/?	13	c.2225A>T	-	p.N742I	0.999	29.71	0.9402	Thompson et al., 2013	DNA	SEQ	PMS2_04915	-	-	-
?/?	13	c.2226T>A	-	p.N742K	0.996	11.98	0.6637	Thompson et al., 2013	DNA	SEQ	PMS2_04918	-	-	-
?/?	13	c.2226T>G	-	p.N742K	0.996	11.98	0.6637	Thompson et al., 2013	DNA	SEQ	PMS2_04919	-	-	-
?/?	13	c.2227C>A	-	p.L743M	0.810	6.98	0.2077	Thompson et al., 2013	DNA	SEQ	PMS2_04920	-	-	-
?/?	13	c.2227C>G	-	p.L743V	0.493	9.37	0.1171	Thompson et al., 2013	DNA	SEQ	PMS2_04921	-	-	-
?/?	13	c.2228T>A	-	p.L743Q	0.990	13.29	0.7089	Thompson et al., 2013	DNA	SEQ	PMS2_04923	-	-	-
?/?	13	c.2228T>C	-	p.L743P	0.990	20.75	0.8700	Thompson et al., 2013	DNA	SEQ	PMS2_04922	-	-	-
?/?	13	c.2228T>G	-	p.L743R	0.987	37.33	0.9616	Thompson et al., 2013	DNA	SEQ	PMS2_04924	-	-	-
?/?	13	c.2230G>A	-	p.E744K	0.539	18.34	0.4255	Thompson et al., 2013	DNA	SEQ	PMS2_04925	-	-	-
?/?	13	c.2230G>C	-	p.E744Q	0.840	13.86	0.5857	Thompson et al., 2013	DNA	SEQ	PMS2_04926	-	-	-
?/?	13	c.2231A>C	-	p.E744A	0.659	22.97	0.6730	Thompson et al., 2013	DNA	SEQ	PMS2_04927	-	-	-
?/?	13	c.2231A>G	-	p.E744G	0.539	18.36	0.4261	Thompson et al., 2013	DNA	SEQ	PMS2_04928	-	-	-
?/?	13	c.2231A>T	-	p.E744V	0.840	25.79	0.8527	Thompson et al., 2013	DNA	SEQ	PMS2_04929	-	-	-
?/?	13	c.2232A>C	-	p.E744D	0.023	3.01	0.0014	Thompson et al., 2013	DNA	SEQ	PMS2_04930	-	-	-
?/?	13	c.2232A>T	-	p.E744D	0.023	3.01	0.0014	Thompson et al., 2013	DNA	SEQ	PMS2_04931	-	-	-
?/?	13	c.2233A>C	-	p.I745L	0.993	10.44	0.5878	Thompson et al., 2013	DNA	SEQ	PMS2_04932	-	-	-
?/?	13	c.2233A>G	-	p.I745V	0.993	10.65	0.5987	Thompson et al., 2013	DNA	SEQ	PMS2_04934	-	-	-
?/?	13	c.2233A>T	-	p.I745L	0.993	10.44	0.5878	Thompson et al., 2013	DNA	SEQ	PMS2_04933	-	-	-
?/?	13	c.2234T>A	-	p.I745K	0.999	28.51	0.9347	Thompson et al., 2013	DNA	SEQ	PMS2_04935	-	-	-
?/?	13	c.2234T>C	-	p.I745T	0.999	19.60	0.8594	Thompson et al., 2013	DNA	SEQ	PMS2_04937	-	-	-
?/?	13	c.2234T>G	-	p.I745R	0.999	32.56	0.9508	Thompson et al., 2013	DNA	SEQ	PMS2_04936	-	-	-
?/?	13	c.2235A>G	-	p.I745M	0.999	15.70	0.7869	Thompson et al., 2013	DNA	SEQ	PMS2_04938	-	-	-
?/?	13	c.2236T>A	-	p.F746I	0.999	10.86	0.6154	Thompson et al., 2013	DNA	SEQ	PMS2_04939	-	-	-
?/?	13	c.2236T>C	-	p.F746L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04940	-	-	-
?/?	13	c.2236T>G	-	p.F746V	0.999	17.61	0.8274	Thompson et al., 2013	DNA	SEQ	PMS2_04941	-	-	-
?/?	13	c.2237T>A	-	p.F746Y	0.999	16.28	0.8004	Thompson et al., 2013	DNA	SEQ	PMS2_04944	-	-	-
?/?	13	c.2237T>C	-	p.F746S	0.999	19.43	0.8570	Thompson et al., 2013	DNA	SEQ	PMS2_04943	-	-	-
?/?	13	c.2237T>G	-	p.F746C	1.000	17.91	0.8334	Thompson et al., 2013	DNA	SEQ	PMS2_04942	-	-	-
?/?	13	c.2238T>A	-	p.F746L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04946	-	-	-
?/?	13	c.2238T>G	-	p.F746L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04945	-	-	-
?/?	13	c.2239A>G	-	p.R747G	0.962	23.80	0.8903	Thompson et al., 2013	DNA	SEQ	PMS2_04947	-	-	-
?/?	13	c.2240G>A	-	p.R747K	0.096	3.53	0.0027	Thompson et al., 2013	DNA	SEQ	PMS2_04949	-	-	-
?/?	13	c.2240G>C	-	p.R747T	0.888	22.66	0.8411	Thompson et al., 2013	DNA	SEQ	PMS2_04950	-	-	-
?/?	13	c.2240G>T	-	p.R747I	0.968	26.17	0.9117	Thompson et al., 2013	DNA	SEQ	PMS2_04948	-	-	-
?/?	13	c.2241A>C	-	p.R747S	0.893	19.70	0.7974	Thompson et al., 2013	DNA	SEQ	PMS2_04951	-	-	-
?/?	13	c.2241A>T	-	p.R747S	0.893	19.70	0.7974	Thompson et al., 2013	DNA	SEQ	PMS2_04952	-	-	-
?/?	13	c.2242A>C	-	p.K748Q	0.999	14.08	0.7426	Thompson et al., 2013	DNA	SEQ	PMS2_04954	-	-	-
?/?	13	c.2242A>G	-	p.K748E	0.999	23.70	0.9039	Thompson et al., 2013	DNA	SEQ	PMS2_04953	-	-	-
?/?	13	c.2243A>C	-	p.K748T	0.999	27.99	0.9321	Thompson et al., 2013	DNA	SEQ	PMS2_04957	-	-	-
?/?	13	c.2243A>G	-	p.K748R	0.999	7.31	0.3944	Thompson et al., 2013	DNA	SEQ	PMS2_04956	-	-	-
?/?	13	c.2243A>T	-	p.K748M	1.000	17.24	0.8210	Thompson et al., 2013	DNA	SEQ	PMS2_04955	-	-	-
?/?	13	c.2244G>C	-	p.K748N	0.999	14.55	0.7566	Thompson et al., 2013	DNA	SEQ	PMS2_04959	-	-	-
?/?	13	c.2244G>T	-	p.K748N	0.999	14.55	0.7566	Thompson et al., 2013	DNA	SEQ	PMS2_04958	-	-	-
?/?	13	c.2245A>C	-	p.N749H	1.000	14.29	0.7497	Thompson et al., 2013	DNA	SEQ	PMS2_04961	-	-	-
?/?	13	c.2245A>G	-	p.N749D	0.999	29.27	0.9382	Thompson et al., 2013	DNA	SEQ	PMS2_04960	-	-	-
?/?	13	c.2245A>T	-	p.N749Y	1.000	20.20	0.8679	Thompson et al., 2013	DNA	SEQ	PMS2_04962	-	-	-
?/?	13	c.2246A>C	-	p.N749T	0.999	16.73	0.8101	Thompson et al., 2013	DNA	SEQ	PMS2_04965	-	-	-
?/?	13	c.2246A>G	-	p.N749S	0.999	13.40	0.7205	Thompson et al., 2013	DNA	SEQ	PMS2_04964	-	-	-
?/?	13	c.2246A>T	-	p.N749I	1.000	22.05	0.8891	Thompson et al., 2013	DNA	SEQ	PMS2_04963	-	-	-
?/?	13	c.2247T>A	-	p.N749K	0.999	25.31	0.9161	Thompson et al., 2013	DNA	SEQ	PMS2_04967	-	-	-
?/?	13	c.2247T>G	-	p.N749K	0.999	25.31	0.9161	Thompson et al., 2013	DNA	SEQ	PMS2_04966	-	-	-
?/?	13	c.2248G>A	-	p.G750S	1.000	7.50	0.4095	Thompson et al., 2013	DNA	SEQ	PMS2_04970	-	-	-
?/?	13	c.2248G>C	-	p.G750R	1.000	36.52	0.9618	Thompson et al., 2013	DNA	SEQ	PMS2_04969	-	-	-
?/?	13	c.2248G>T	-	p.G750C	1.000	19.13	0.8531	Thompson et al., 2013	DNA	SEQ	PMS2_04968	-	-	-
?/?	13	c.2249G>A	-	p.G750D	1.000	35.86	0.9603	Thompson et al., 2013	DNA	SEQ	PMS2_04972	-	-	-
?/?	13	c.2249G>C	-	p.G750A	1.000	22.05	0.8891	Thompson et al., 2013	DNA	SEQ	PMS2_04971	-	-	-
?/?	13	c.2249G>T	-	p.G750V	1.000	29.36	0.9389	Thompson et al., 2013	DNA	SEQ	PMS2_04973	-	-	-
?/?	13	c.2251T>A	-	p.F751I	0.999	10.86	0.6154	Thompson et al., 2013	DNA	SEQ	PMS2_04974	-	-	-
?/?	13	c.2251T>C	-	p.F751L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04975	-	-	-
?/?	13	c.2251T>G	-	p.F751V	0.999	17.61	0.8274	Thompson et al., 2013	DNA	SEQ	PMS2_04976	-	-	-
?/?	13	c.2252T>A	-	p.F751Y	0.999	16.28	0.8004	Thompson et al., 2013	DNA	SEQ	PMS2_04979	-	-	-
?/?	13	c.2252T>C	-	p.F751S	0.999	19.43	0.8570	Thompson et al., 2013	DNA	SEQ	PMS2_04978	-	-	-
?/?	13	c.2252T>G	-	p.F751C	1.000	17.91	0.8334	Thompson et al., 2013	DNA	SEQ	PMS2_04977	-	-	-
?/?	13	c.2253T>A	-	p.F751L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04980	-	-	-
?/?	13	c.2253T>G	-	p.F751L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04981	-	-	-
?/?	13	c.2254G>A	-	p.D752N	0.987	3.67	0.1147	Thompson et al., 2013	DNA	SEQ	PMS2_04983	-	-	-
?/?	13	c.2254G>C	-	p.D752H	0.996	6.34	0.3176	Thompson et al., 2013	DNA	SEQ	PMS2_04982	-	-	-
?/?	13	c.2254G>T	-	p.D752Y	0.996	7.84	0.4298	Thompson et al., 2013	DNA	SEQ	PMS2_04984	-	-	-
?/?	13	c.2255A>C	-	p.D752A	0.992	6.97	0.3620	Thompson et al., 2013	DNA	SEQ	PMS2_04985	-	-	-
?/?	13	c.2255A>G	-	p.D752G	0.987	5.11	0.2154	Thompson et al., 2013	DNA	SEQ	PMS2_04986	-	-	-
?/?	13	c.2255A>T	-	p.D752V	0.990	11.21	0.6233	Thompson et al., 2013	DNA	SEQ	PMS2_04987	-	-	-
?/?	13	c.2256T>A	-	p.D752E	0.682	2.75	0.0180	Thompson et al., 2013	DNA	SEQ	PMS2_04989	-	-	-
?/?	13	c.2256T>G	-	p.D752E	0.682	2.75	0.0180	Thompson et al., 2013	DNA	SEQ	PMS2_04988	-	-	-
?/?	13	c.2257T>A	-	p.F753I	0.999	10.86	0.6154	Thompson et al., 2013	DNA	SEQ	PMS2_04990	-	-	-
?/?	13	c.2257T>C	-	p.F753L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04991	-	-	-
?/?	13	c.2257T>G	-	p.F753V	0.999	17.61	0.8274	Thompson et al., 2013	DNA	SEQ	PMS2_04992	-	-	-
?/?	13	c.2258T>A	-	p.F753Y	0.999	16.28	0.8004	Thompson et al., 2013	DNA	SEQ	PMS2_04995	-	-	-
?/?	13	c.2258T>C	-	p.F753S	0.999	19.43	0.8570	Thompson et al., 2013	DNA	SEQ	PMS2_04994	-	-	-
?/?	13	c.2258T>G	-	p.F753C	1.000	17.91	0.8334	Thompson et al., 2013	DNA	SEQ	PMS2_04993	-	-	-
?/?	13	c.2259T>A	-	p.F753L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04997	-	-	-
?/?	13	c.2259T>G	-	p.F753L	0.999	12.82	0.6998	Thompson et al., 2013	DNA	SEQ	PMS2_04996	-	-	-
?/?	13	c.2260G>A	-	p.V754I	0.008	1.25	0.0002	Thompson et al., 2013	DNA	SEQ	PMS2_04999	-	-	-
?/?	13	c.2260G>C	-	p.V754L	0.014	3.08	0.0014	Thompson et al., 2013	DNA	SEQ	PMS2_05000	-	-	-
?/?	13	c.2260G>T	-	p.V754F	0.509	3.17	0.0120	Thompson et al., 2013	DNA	SEQ	PMS2_04998	-	-	-

4901 - 5000
[<<] [<-] ... 45 46 47 48 49 50 51 52 53 54 55 ... [->] [>>]

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: [ PMS2_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. PMS2 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 PMS2 priors (PMS2_priors)