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


?/?	5	c.464C>A	-	p.T155N	0.999	20.18	0.8672	Thompson et al., 2013	DNA	SEQ	PMS2_01002	-	-	-
?/?	5	c.464C>G	-	p.T155S	0.991	11.33	0.6299	Thompson et al., 2013	DNA	SEQ	PMS2_01003	-	-	-
?/?	5	c.464C>T	-	p.T155I	0.999	33.48	0.9537	Thompson et al., 2013	DNA	SEQ	PMS2_01001	-	-	-
?/?	5	c.466A>C	-	p.T156P	1.000	14.61	0.7590	Thompson et al., 2013	DNA	SEQ	PMS2_01005	-	-	-
?/?	5	c.466A>G	-	p.T156A	0.997	11.88	0.6604	Thompson et al., 2013	DNA	SEQ	PMS2_01004	-	-	-
?/?	5	c.466A>T	-	p.T156S	0.998	3.37	0.1006	Thompson et al., 2013	DNA	SEQ	PMS2_01006	-	-	-
?/?	5	c.467C>A	-	p.T156K	1.000	27.21	0.9282	Thompson et al., 2013	DNA	SEQ	PMS2_01008	-	-	-
?/?	5	c.467C>G	-	p.T156R	1.000	30.75	0.9446	Thompson et al., 2013	DNA	SEQ	PMS2_01009	-	-	-
?/?	5	c.467C>T	-	p.T156I	1.000	9.07	0.5163	Thompson et al., 2013	DNA	SEQ	PMS2_01007	-	-	-
?/?	5	c.469G>A	-	p.V157I	0.992	11.96	0.6591	Thompson et al., 2013	DNA	SEQ	PMS2_01011	-	-	-
?/?	5	c.469G>C	-	p.V157L	0.992	20.81	0.8717	Thompson et al., 2013	DNA	SEQ	PMS2_01012	-	-	-
?/?	5	c.469G>T	-	p.V157F	1.000	21.09	0.8788	Thompson et al., 2013	DNA	SEQ	PMS2_01010	-	-	-
?/?	5	c.470T>A	-	p.V157D	1.000	33.13	0.9528	Thompson et al., 2013	DNA	SEQ	PMS2_01014	-	-	-
?/?	5	c.470T>C	-	p.V157A	0.999	27.75	0.9308	Thompson et al., 2013	DNA	SEQ	PMS2_01013	-	-	-
?/?	5	c.470T>G	-	p.V157G	1.000	23.22	0.9002	Thompson et al., 2013	DNA	SEQ	PMS2_01015	-	-	-
?/?	5	c.472A>C	-	p.S158R	0.993	32.60	0.9498	Thompson et al., 2013	DNA	SEQ	PMS2_01018	-	-	-
?/?	5	c.472A>G	-	p.S158G	0.960	3.23	0.0795	Thompson et al., 2013	DNA	SEQ	PMS2_01017	-	-	-
?/?	5	c.472A>T	-	p.S158C	0.979	1.85	0.0258	Thompson et al., 2013	DNA	SEQ	PMS2_01016	-	-	-
?/?	5	c.473G>A	-	p.S158N	0.926	10.67	0.5297	Thompson et al., 2013	DNA	SEQ	PMS2_01020	-	-	-
?/?	5	c.473G>C	-	p.S158T	0.150	1.29	0.0003	Thompson et al., 2013	DNA	SEQ	PMS2_01021	-	-	-
?/?	5	c.473G>T	-	p.S158I	0.762	4.58	0.0759	Thompson et al., 2013	DNA	SEQ	PMS2_01019	-	-	-
?/?	5	c.474C>A	-	p.S158R	0.993	32.60	0.9498	Thompson et al., 2013	DNA	SEQ	PMS2_01023	-	-	-
?/?	5	c.474C>G	-	p.S158R	0.993	32.60	0.9498	Thompson et al., 2013	DNA	SEQ	PMS2_01022	-	-	-
?/?	5	c.475G>A	-	p.V159M	0.515	10.38	0.1552	Thompson et al., 2013	DNA	SEQ	PMS2_01026	-	-	-
?/?	5	c.475G>C	-	p.V159L	0.032	3.39	0.0018	Thompson et al., 2013	DNA	SEQ	PMS2_01024	-	-	-
?/?	5	c.475G>T	-	p.V159L	0.032	3.39	0.0018	Thompson et al., 2013	DNA	SEQ	PMS2_01025	-	-	-
?/?	5	c.476T>A	-	p.V159E	0.985	33.75	0.9519	Thompson et al., 2013	DNA	SEQ	PMS2_01028	-	-	-
?/?	5	c.476T>C	-	p.V159A	0.795	9.20	0.3152	Thompson et al., 2013	DNA	SEQ	PMS2_01027	-	-	-
?/?	5	c.476T>G	-	p.V159G	0.996	14.61	0.7559	Thompson et al., 2013	DNA	SEQ	PMS2_01029	-	-	-
?/?	5	c.478C>A	-	p.Q160K	0.654	3.53	0.0279	Thompson et al., 2013	DNA	SEQ	PMS2_01031	-	-	-
?/?	5	c.478C>G	-	p.Q160E	0.932	7.35	0.3314	Thompson et al., 2013	DNA	SEQ	PMS2_01030	-	-	-
?/?	5	c.479A>C	-	p.Q160P	0.995	23.28	0.8988	Thompson et al., 2013	DNA	SEQ	PMS2_01033	-	-	-
?/?	5	c.479A>G	-	p.Q160R	0.970	3.89	0.1209	Thompson et al., 2013	DNA	SEQ	PMS2_01034	-	-	-
?/?	5	c.479A>T	-	p.Q160L	0.985	2.94	0.0720	Thompson et al., 2013	DNA	SEQ	PMS2_01032	-	-	-
?/?	5	c.480G>C	-	p.Q160H	0.992	5.74	0.2675	Thompson et al., 2013	DNA	SEQ	PMS2_01035	-	-	-
?/?	5	c.480G>T	-	p.Q160H	0.992	5.74	0.2675	Thompson et al., 2013	DNA	SEQ	PMS2_01036	-	-	-
?/?	5	c.481C>A	-	p.Q161K	0.037	4.84	0.0042	Thompson et al., 2013	DNA	SEQ	PMS2_01038	-	-	-
?/?	5	c.481C>G	-	p.Q161E	0.255	6.14	0.0181	Thompson et al., 2013	DNA	SEQ	PMS2_01037	-	-	-
?/?	5	c.482A>C	-	p.Q161P	0.856	13.19	0.5749	Thompson et al., 2013	DNA	SEQ	PMS2_01040	-	-	-
?/?	5	c.482A>G	-	p.Q161R	0.573	7.67	0.1058	Thompson et al., 2013	DNA	SEQ	PMS2_01041	-	-	-
?/?	5	c.482A>T	-	p.Q161L	0.471	28.14	0.5943	Thompson et al., 2013	DNA	SEQ	PMS2_01039	-	-	-
?/?	5	c.483G>C	-	p.Q161H	0.063	2.44	0.0010	Thompson et al., 2013	DNA	SEQ	PMS2_01043	-	-	-
?/?	5	c.483G>T	-	p.Q161H	0.063	2.44	0.0010	Thompson et al., 2013	DNA	SEQ	PMS2_01042	-	-	-
?/?	5	c.484T>A	-	p.L162I	0.994	3.79	0.1255	Thompson et al., 2013	DNA	SEQ	PMS2_01044	-	-	-
?/?	5	c.484T>G	-	p.L162V	0.921	12.29	0.6031	Thompson et al., 2013	DNA	SEQ	PMS2_01045	-	-	-
?/?	5	c.485T>C	-	p.L162S	0.999	26.82	0.9257	Thompson et al., 2013	DNA	SEQ	PMS2_01046	-	-	-
?/?	5	c.486A>C	-	p.L162F	0.998	9.03	0.5117	Thompson et al., 2013	DNA	SEQ	PMS2_01048	-	-	-
?/?	5	c.486A>T	-	p.L162F	0.998	9.03	0.5117	Thompson et al., 2013	DNA	SEQ	PMS2_01047	-	-	-
?/?	5	c.487T>A	-	p.F163I	0.998	10.86	0.6143	Thompson et al., 2013	DNA	SEQ	PMS2_01049	-	-	-
?/?	5	c.487T>C	-	p.F163L	0.996	12.82	0.6971	Thompson et al., 2013	DNA	SEQ	PMS2_01050	-	-	-
?/?	5	c.487T>G	-	p.F163V	0.999	17.61	0.8274	Thompson et al., 2013	DNA	SEQ	PMS2_01051	-	-	-
?/?	5	c.488T>A	-	p.F163Y	0.997	16.28	0.7991	Thompson et al., 2013	DNA	SEQ	PMS2_01054	-	-	-
?/?	5	c.488T>C	-	p.F163S	1.000	19.43	0.8575	Thompson et al., 2013	DNA	SEQ	PMS2_01053	-	-	-
?/?	5	c.488T>G	-	p.F163C	1.000	17.91	0.8334	Thompson et al., 2013	DNA	SEQ	PMS2_01052	-	-	-
?/?	5	c.489T>A	-	p.F163L	0.996	12.82	0.6971	Thompson et al., 2013	DNA	SEQ	PMS2_01056	-	-	-
?/?	5	c.489T>G	-	p.F163L	0.996	12.82	0.6971	Thompson et al., 2013	DNA	SEQ	PMS2_01055	-	-	-
?/?	5	c.490T>A	-	p.S164T	0.031	2.12	0.0006	Thompson et al., 2013	DNA	SEQ	PMS2_01059	-	-	-
?/?	5	c.490T>C	-	p.S164P	0.322	18.30	0.2262	Thompson et al., 2013	DNA	SEQ	PMS2_01058	-	-	-
?/?	5	c.490T>G	-	p.S164A	0.154	11.28	0.0455	Thompson et al., 2013	DNA	SEQ	PMS2_01057	-	-	-
?/?	5	c.491C>A	-	p.S164Y	0.001	3.08	0.0013	Thompson et al., 2013	DNA	SEQ	PMS2_01062	-	-	-
?/?	5	c.491C>G	-	p.S164C	0.007	2.98	0.0012	Thompson et al., 2013	DNA	SEQ	PMS2_01060	-	-	-
?/?	5	c.491C>T	-	p.S164F	0.099	5.28	0.0067	Thompson et al., 2013	DNA	SEQ	PMS2_01061	-	-	-
?/?	5	c.493A>C	-	p.T165P	0.022	42.76	0.3587	Thompson et al., 2013	DNA	SEQ	PMS2_01064	-	-	-
?/?	5	c.493A>G	-	p.T165A	0.325	30.30	0.4820	Thompson et al., 2013	DNA	SEQ	PMS2_01063	-	-	-
?/?	5	c.493A>T	-	p.T165S	0.202	9.81	0.0408	Thompson et al., 2013	DNA	SEQ	PMS2_01065	-	-	-
?/?	5	c.494C>A	-	p.T165K	0.444	40.96	0.7538	Thompson et al., 2013	DNA	SEQ	PMS2_01067	-	-	-
?/?	5	c.494C>G	-	p.T165R	0.925	46.55	0.9695	Thompson et al., 2013	DNA	SEQ	PMS2_01068	-	-	-
?/?	5	c.494C>T	-	p.T165I	0.882	12.65	0.5788	Thompson et al., 2013	DNA	SEQ	PMS2_01066	-	-	-
?/?	5	c.496C>A	-	p.L166I	0.988	5.25	0.2267	Thompson et al., 2013	DNA	SEQ	PMS2_01069	-	-	-
?/?	5	c.496C>G	-	p.L166V	0.967	13.96	0.7117	Thompson et al., 2013	DNA	SEQ	PMS2_01070	-	-	-
?/?	5	c.497T>A	-	p.L166Q	0.996	18.57	0.8422	Thompson et al., 2013	DNA	SEQ	PMS2_01072	-	-	-
?/?	5	c.497T>C	-	p.L166P	0.998	35.66	0.9595	Thompson et al., 2013	DNA	SEQ	PMS2_01071	-	-	-
?/?	5	c.497T>G	-	p.L166R	0.996	35.00	0.9575	Thompson et al., 2013	DNA	SEQ	PMS2_01073	-	-	-
?/?	5	c.499C>A	-	p.P167T	0.995	17.77	0.8279	Thompson et al., 2013	DNA	SEQ	PMS2_01076	-	-	-
?/?	5	c.499C>G	-	p.P167A	0.982	20.00	0.8561	Thompson et al., 2013	DNA	SEQ	PMS2_01074	-	-	-
?/?	5	c.499C>T	-	p.P167S	0.995	17.50	0.8229	Thompson et al., 2013	DNA	SEQ	PMS2_01075	-	-	-
?/?	5	c.500C>A	-	p.P167H	0.998	19.31	0.8547	Thompson et al., 2013	DNA	SEQ	PMS2_01077	-	-	-
?/?	5	c.500C>G	-	p.P167R	0.999	41.48	0.9710	Thompson et al., 2013	DNA	SEQ	PMS2_01079	-	-	-
?/?	5	c.500C>T	-	p.P167L	0.998	26.92	0.9260	Thompson et al., 2013	DNA	SEQ	PMS2_01078	-	-	-
?/?	5	c.502G>A	-	p.V168M	0.993	24.43	0.9076	Thompson et al., 2013	DNA	SEQ	PMS2_01082	-	-	-
?/?	5	c.502G>C	-	p.V168L	0.883	20.81	0.8103	Thompson et al., 2013	DNA	SEQ	PMS2_01081	-	-	-
?/?	5	c.502G>T	-	p.V168L	0.883	20.81	0.8103	Thompson et al., 2013	DNA	SEQ	PMS2_01080	-	-	-
?/?	5	c.503T>A	-	p.V168E	0.990	32.45	0.9486	Thompson et al., 2013	DNA	SEQ	PMS2_01084	-	-	-
?/?	5	c.503T>C	-	p.V168A	0.983	27.75	0.9263	Thompson et al., 2013	DNA	SEQ	PMS2_01083	-	-	-
?/?	5	c.503T>G	-	p.V168G	0.995	23.22	0.8982	Thompson et al., 2013	DNA	SEQ	PMS2_01085	-	-	-
?/?	5	c.505C>A	-	p.R169S	0.987	21.57	0.8783	Thompson et al., 2013	DNA	SEQ	PMS2_01088	-	-	-
?/?	5	c.505C>G	-	p.R169G	0.996	25.90	0.9191	Thompson et al., 2013	DNA	SEQ	PMS2_01087	-	-	-
?/?	5	c.505C>T	-	p.R169C	0.883	29.01	0.9008	Thompson et al., 2013	DNA	SEQ	PMS2_01086	-	-	-
?/?	5	c.506G>A	-	p.R169H	0.775	14.41	0.5393	Thompson et al., 2013	DNA	SEQ	PMS2_01089	-	-	-
?/?	5	c.506G>C	-	p.R169P	0.995	40.70	0.9693	Thompson et al., 2013	DNA	SEQ	PMS2_01091	-	-	-
?/?	5	c.506G>T	-	p.R169L	0.973	19.03	0.8365	Thompson et al., 2013	DNA	SEQ	PMS2_01090	-	-	-
?/?	5	c.508C>A	-	p.H170N	0.885	4.63	0.1244	Thompson et al., 2013	DNA	SEQ	PMS2_01093	-	-	-
?/?	5	c.508C>G	-	p.H170D	0.885	7.77	0.3152	Thompson et al., 2013	DNA	SEQ	PMS2_01092	-	-	-
?/?	5	c.508C>T	-	p.H170Y	0.018	5.39	0.0050	Thompson et al., 2013	DNA	SEQ	PMS2_01094	-	-	-
?/?	5	c.509A>C	-	p.H170P	0.914	15.08	0.7012	Thompson et al., 2013	DNA	SEQ	PMS2_01096	-	-	-
?/?	5	c.509A>G	-	p.H170R	0.779	4.48	0.0775	Thompson et al., 2013	DNA	SEQ	PMS2_01097	-	-	-
?/?	5	c.509A>T	-	p.H170L	0.676	14.06	0.4207	Thompson et al., 2013	DNA	SEQ	PMS2_01095	-	-	-
?/?	5	c.510T>A	-	p.H170Q	0.829	4.50	0.0950	Thompson et al., 2013	DNA	SEQ	PMS2_01098	-	-	-
?/?	5	c.510T>G	-	p.H170Q	0.829	4.50	0.0950	Thompson et al., 2013	DNA	SEQ	PMS2_01099	-	-	-
?/?	5	c.511A>C	-	p.K171Q	0.987	14.08	0.7327	Thompson et al., 2013	DNA	SEQ	PMS2_01101	-	-	-

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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)