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 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


?/?	3	c.234A>T	-	p.E78D	0.032	2.40	0.0008	Thompson et al., 2013	DNA	SEQ	PMS2_00501	-	-	-
?/?	3	c.235A>C	-	p.N79H	0.998	14.29	0.7481	Thompson et al., 2013	DNA	SEQ	PMS2_00503	-	-	-
?/?	3	c.235A>G	-	p.N79D	0.992	29.27	0.9365	Thompson et al., 2013	DNA	SEQ	PMS2_00502	-	-	-
?/?	3	c.235A>T	-	p.N79Y	0.999	20.20	0.8675	Thompson et al., 2013	DNA	SEQ	PMS2_00504	-	-	-
?/?	3	c.236A>C	-	p.N79T	0.996	16.73	0.8081	Thompson et al., 2013	DNA	SEQ	PMS2_00507	-	-	-
?/?	3	c.236A>G	-	p.N79S	0.979	13.40	0.7030	Thompson et al., 2013	DNA	SEQ	PMS2_00506	-	-	-
?/?	3	c.236A>T	-	p.N79I	0.999	22.05	0.8887	Thompson et al., 2013	DNA	SEQ	PMS2_00505	-	-	-
?/?	3	c.237C>A	-	p.N79K	0.998	25.31	0.9158	Thompson et al., 2013	DNA	SEQ	PMS2_00508	-	-	-
?/?	3	c.237C>G	-	p.N79K	0.998	25.31	0.9158	Thompson et al., 2013	DNA	SEQ	PMS2_00509	-	-	-
?/?	3	c.238T>A	-	p.F80I	0.992	8.75	0.4874	Thompson et al., 2013	DNA	SEQ	PMS2_00510	-	-	-
?/?	3	c.238T>C	-	p.F80L	0.979	11.28	0.6156	Thompson et al., 2013	DNA	SEQ	PMS2_00511	-	-	-
?/?	3	c.238T>G	-	p.F80V	0.990	15.92	0.7858	Thompson et al., 2013	DNA	SEQ	PMS2_00512	-	-	-
?/?	3	c.239T>A	-	p.F80Y	0.509	6.87	0.0656	Thompson et al., 2013	DNA	SEQ	PMS2_00515	-	-	-
?/?	3	c.239T>C	-	p.F80S	0.999	16.44	0.8039	Thompson et al., 2013	DNA	SEQ	PMS2_00514	-	-	-
?/?	3	c.239T>G	-	p.F80C	0.998	16.22	0.7984	Thompson et al., 2013	DNA	SEQ	PMS2_00513	-	-	-
?/?	3	c.240C>A	-	p.F80L	0.979	11.28	0.6156	Thompson et al., 2013	DNA	SEQ	PMS2_00516	-	-	-
?/?	3	c.240C>G	-	p.F80L	0.979	11.28	0.6156	Thompson et al., 2013	DNA	SEQ	PMS2_00517	-	-	-
?/?	3	c.241G>A	-	p.E81K	0.774	3.49	0.0446	Thompson et al., 2013	DNA	SEQ	PMS2_00518	-	-	-
?/?	3	c.241G>C	-	p.E81Q	0.875	2.28	0.0266	Thompson et al., 2013	DNA	SEQ	PMS2_00519	-	-	-
?/?	3	c.242A>C	-	p.E81A	0.208	9.54	0.0394	Thompson et al., 2013	DNA	SEQ	PMS2_00520	-	-	-
?/?	3	c.242A>G	-	p.E81G	0.846	6.48	0.2052	Thompson et al., 2013	DNA	SEQ	PMS2_00521	-	-	-
?/?	3	c.242A>T	-	p.E81V	0.715	14.81	0.4911	Thompson et al., 2013	DNA	SEQ	PMS2_00522	-	-	-
?/?	3	c.243A>C	-	p.E81D	0.484	4.63	0.0251	Thompson et al., 2013	DNA	SEQ	PMS2_00524	-	-	-
?/?	3	c.243A>T	-	p.E81D	0.484	4.63	0.0251	Thompson et al., 2013	DNA	SEQ	PMS2_00523	-	-	-
?/?	3	c.244G>A	-	p.G82S	0.999	7.16	0.3833	Thompson et al., 2013	DNA	SEQ	PMS2_00527	-	-	-
?/?	3	c.244G>C	-	p.G82R	1.000	45.20	0.9761	Thompson et al., 2013	DNA	SEQ	PMS2_00526	-	-	-
?/?	3	c.244G>T	-	p.G82C	1.000	18.48	0.8430	Thompson et al., 2013	DNA	SEQ	PMS2_00525	-	-	-
?/?	3	c.245G>A	-	p.G82D	0.999	41.57	0.9712	Thompson et al., 2013	DNA	SEQ	PMS2_00529	-	-	-
?/?	3	c.245G>C	-	p.G82A	0.997	6.16	0.3045	Thompson et al., 2013	DNA	SEQ	PMS2_00528	-	-	-
?/?	3	c.245G>T	-	p.G82V	1.000	27.14	0.9278	Thompson et al., 2013	DNA	SEQ	PMS2_00530	-	-	-
?/?	3	c.247T>A	-	p.L83I	0.998	15.46	0.7803	Thompson et al., 2013	DNA	SEQ	PMS2_00531	-	-	-
?/?	3	c.247T>G	-	p.L83V	0.993	25.80	0.9175	Thompson et al., 2013	DNA	SEQ	PMS2_00532	-	-	-
?/?	3	c.248T>C	-	p.L83S	1.000	22.76	0.8960	Thompson et al., 2013	DNA	SEQ	PMS2_00533	-	-	-
?/?	3	c.249A>C	-	p.L83F	0.999	12.59	0.6911	Thompson et al., 2013	DNA	SEQ	PMS2_00535	-	-	-
?/?	3	c.249A>T	-	p.L83F	0.999	12.59	0.6911	Thompson et al., 2013	DNA	SEQ	PMS2_00534	-	-	-
?/?	3	c.250A>C	-	p.T84P	0.859	16.96	0.7079	Thompson et al., 2013	DNA	SEQ	PMS2_00537	-	-	-
?/?	3	c.250A>G	-	p.T84A	0.044	14.69	0.0515	Thompson et al., 2013	DNA	SEQ	PMS2_00536	-	-	-
?/?	3	c.250A>T	-	p.T84S	0.120	4.41	0.0049	Thompson et al., 2013	DNA	SEQ	PMS2_00538	-	-	-
?/?	4	c.251C>A	-	p.T84N	0.883	15.62	0.6901	Thompson et al., 2013	DNA	SEQ	PMS2_00540	-	-	-
?/?	4	c.251C>G	-	p.T84S	0.120	4.41	0.0049	Thompson et al., 2013	DNA	SEQ	PMS2_00541	-	-	-
?/?	4	c.251C>T	-	p.T84I	0.902	16.01	0.7186	Thompson et al., 2013	DNA	SEQ	PMS2_00539	-	-	-
?/?	4	c.253C>A	-	p.L85M	0.997	6.94	0.3647	Thompson et al., 2013	DNA	SEQ	PMS2_00542	-	-	-
?/?	4	c.253C>G	-	p.L85V	0.973	25.13	0.9058	Thompson et al., 2013	DNA	SEQ	PMS2_00543	-	-	-
?/?	4	c.254T>A	-	p.L85Q	0.997	11.81	0.6574	Thompson et al., 2013	DNA	SEQ	PMS2_00545	-	-	-
?/?	4	c.254T>C	-	p.L85P	0.999	36.53	0.9617	Thompson et al., 2013	DNA	SEQ	PMS2_00544	-	-	-
?/?	4	c.254T>G	-	p.L85R	0.997	37.00	0.9625	Thompson et al., 2013	DNA	SEQ	PMS2_00546	-	-	-
?/?	4	c.256A>C	-	p.K86Q	0.999	14.08	0.7426	Thompson et al., 2013	DNA	SEQ	PMS2_00548	-	-	-
?/?	4	c.256A>G	-	p.K86E	0.999	23.70	0.9039	Thompson et al., 2013	DNA	SEQ	PMS2_00547	-	-	-
?/?	4	c.257A>C	-	p.K86T	0.999	27.99	0.9321	Thompson et al., 2013	DNA	SEQ	PMS2_00551	-	-	-
?/?	4	c.257A>G	-	p.K86R	0.999	7.31	0.3944	Thompson et al., 2013	DNA	SEQ	PMS2_00550	-	-	-
?/?	4	c.257A>T	-	p.K86I	1.000	25.96	0.9207	Thompson et al., 2013	DNA	SEQ	PMS2_00549	-	-	-
?/?	4	c.258A>C	-	p.K86N	0.999	14.55	0.7566	Thompson et al., 2013	DNA	SEQ	PMS2_00553	-	-	-
?/?	4	c.258A>T	-	p.K86N	0.999	14.55	0.7566	Thompson et al., 2013	DNA	SEQ	PMS2_00552	-	-	-
?/?	4	c.259C>A	-	p.H87N	0.997	17.77	0.8291	Thompson et al., 2013	DNA	SEQ	PMS2_00555	-	-	-
?/?	4	c.259C>G	-	p.H87D	0.998	36.64	0.9618	Thompson et al., 2013	DNA	SEQ	PMS2_00554	-	-	-
?/?	4	c.259C>T	-	p.H87Y	0.998	18.27	0.8384	Thompson et al., 2013	DNA	SEQ	PMS2_00556	-	-	-
?/?	4	c.260A>C	-	p.H87P	0.999	43.50	0.9739	Thompson et al., 2013	DNA	SEQ	PMS2_00558	-	-	-
?/?	4	c.260A>G	-	p.H87R	0.998	31.55	0.9472	Thompson et al., 2013	DNA	SEQ	PMS2_00559	-	-	-
?/?	4	c.260A>T	-	p.H87L	0.999	25.24	0.9156	Thompson et al., 2013	DNA	SEQ	PMS2_00557	-	-	-
?/?	4	c.261T>A	-	p.H87Q	0.999	14.29	0.7489	Thompson et al., 2013	DNA	SEQ	PMS2_00560	-	-	-
?/?	4	c.261T>G	-	p.H87Q	0.999	14.29	0.7489	Thompson et al., 2013	DNA	SEQ	PMS2_00561	-	-	-
?/?	4	c.262C>A	-	p.H88N	0.836	6.28	0.1873	Thompson et al., 2013	DNA	SEQ	PMS2_00563	-	-	-
?/?	4	c.262C>G	-	p.H88D	0.836	16.12	0.6620	Thompson et al., 2013	DNA	SEQ	PMS2_00562	-	-	-
?/?	4	c.262C>T	-	p.H88Y	0.017	3.92	0.0024	Thompson et al., 2013	DNA	SEQ	PMS2_00564	-	-	-
?/?	4	c.263A>C	-	p.H88P	0.875	38.04	0.9420	Thompson et al., 2013	DNA	SEQ	PMS2_00566	-	-	-
?/?	4	c.263A>G	-	p.H88R	0.836	15.81	0.6520	Thompson et al., 2013	DNA	SEQ	PMS2_00567	-	-	-
?/?	4	c.263A>T	-	p.H88L	0.623	16.93	0.4690	Thompson et al., 2013	DNA	SEQ	PMS2_00565	-	-	-
?/?	4	c.264C>A	-	p.H88Q	0.806	8.18	0.2698	Thompson et al., 2013	DNA	SEQ	PMS2_00569	-	-	-
?/?	4	c.264C>G	-	p.H88Q	0.806	8.18	0.2698	Thompson et al., 2013	DNA	SEQ	PMS2_00568	-	-	-
?/?	4	c.265A>C	-	p.T89P	0.999	43.72	0.9742	Thompson et al., 2013	DNA	SEQ	PMS2_00571	-	-	-
?/?	4	c.265A>G	-	p.T89A	0.998	37.99	0.9647	Thompson et al., 2013	DNA	SEQ	PMS2_00570	-	-	-
?/?	4	c.265A>T	-	p.T89S	0.999	11.33	0.6379	Thompson et al., 2013	DNA	SEQ	PMS2_00572	-	-	-
?/?	4	c.266C>A	-	p.T89K	0.999	34.43	0.9564	Thompson et al., 2013	DNA	SEQ	PMS2_00574	-	-	-
?/?	4	c.266C>G	-	p.T89R	0.999	37.76	0.9644	Thompson et al., 2013	DNA	SEQ	PMS2_00575	-	-	-
?/?	4	c.266C>T	-	p.T89I	0.999	33.48	0.9537	Thompson et al., 2013	DNA	SEQ	PMS2_00573	-	-	-
?/?	4	c.268T>A	-	p.S90T	0.844	13.44	0.5728	Thompson et al., 2013	DNA	SEQ	PMS2_00578	-	-	-
?/?	4	c.268T>C	-	p.S90P	0.994	39.26	0.9666	Thompson et al., 2013	DNA	SEQ	PMS2_00577	-	-	-
?/?	4	c.268T>G	-	p.S90A	0.976	28.89	0.9304	Thompson et al., 2013	DNA	SEQ	PMS2_00576	-	-	-
?/?	4	c.269C>A	-	p.S90Y	0.996	23.48	0.9009	Thompson et al., 2013	DNA	SEQ	PMS2_00581	-	-	-
?/?	4	c.269C>G	-	p.S90C	0.905	20.41	0.8178	Thompson et al., 2013	DNA	SEQ	PMS2_00579	-	-	-
?/?	4	c.269C>T	-	p.S90F	0.997	21.57	0.8828	Thompson et al., 2013	DNA	SEQ	PMS2_00580	-	-	-
?/?	4	c.271A>C	-	p.K91Q	0.998	14.08	0.7417	Thompson et al., 2013	DNA	SEQ	PMS2_00583	-	-	-
?/?	4	c.271A>G	-	p.K91E	0.996	23.70	0.9028	Thompson et al., 2013	DNA	SEQ	PMS2_00582	-	-	-
?/?	4	c.272A>C	-	p.K91T	0.998	27.99	0.9318	Thompson et al., 2013	DNA	SEQ	PMS2_00586	-	-	-
?/?	4	c.272A>G	-	p.K91R	0.997	7.31	0.3924	Thompson et al., 2013	DNA	SEQ	PMS2_00585	-	-	-
?/?	4	c.272A>T	-	p.K91M	0.999	17.24	0.8204	Thompson et al., 2013	DNA	SEQ	PMS2_00584	-	-	-
?/?	4	c.273G>C	-	p.K91N	0.981	14.55	0.7422	Thompson et al., 2013	DNA	SEQ	PMS2_00587	-	-	-
?/?	4	c.273G>T	-	p.K91N	0.981	14.55	0.7422	Thompson et al., 2013	DNA	SEQ	PMS2_00588	-	-	-
?/?	4	c.274A>C	-	p.I92L	0.047	1.48	0.0003	Thompson et al., 2013	DNA	SEQ	PMS2_00590	-	-	-
?/?	4	c.274A>G	-	p.I92V	0.585	11.64	0.2430	Thompson et al., 2013	DNA	SEQ	PMS2_00591	-	-	-
?/?	4	c.274A>T	-	p.I92F	0.871	8.90	0.3712	Thompson et al., 2013	DNA	SEQ	PMS2_00589	-	-	-
?/?	4	c.275T>A	-	p.I92N	0.963	25.03	0.9013	Thompson et al., 2013	DNA	SEQ	PMS2_00592	-	-	-
?/?	4	c.275T>C	-	p.I92T	0.859	23.02	0.8290	Thompson et al., 2013	DNA	SEQ	PMS2_00594	-	-	-
?/?	4	c.275T>G	-	p.I92S	0.950	26.65	0.9088	Thompson et al., 2013	DNA	SEQ	PMS2_00593	-	-	-
?/?	4	c.276T>G	-	p.I92M	0.902	9.87	0.4600	Thompson et al., 2013	DNA	SEQ	PMS2_00595	-	-	-
?/?	4	c.277C>A	-	p.Q93K	0.022	3.22	0.0016	Thompson et al., 2013	DNA	SEQ	PMS2_00597	-	-	-
?/?	4	c.277C>G	-	p.Q93E	0.259	6.02	0.0176	Thompson et al., 2013	DNA	SEQ	PMS2_00596	-	-	-
?/?	4	c.278A>C	-	p.Q93P	0.735	14.12	0.4853	Thompson et al., 2013	DNA	SEQ	PMS2_00599	-	-	-
?/?	4	c.278A>G	-	p.Q93R	0.022	4.20	0.0029	Thompson et al., 2013	DNA	SEQ	PMS2_00600	-	-	-
?/?	4	c.278A>T	-	p.Q93L	0.382	10.55	0.0976	Thompson et al., 2013	DNA	SEQ	PMS2_00598	-	-	-

501 - 600
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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: [ 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)