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 MLH1_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 MLH1_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 MLH1_priors full legend here.

4981 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

MAPP score

Custom PP2.1 score

MAPP/PP2 Prior P

Reference

Template

Technique

DB-ID

Disease

Reference

Remarks


?/?	10	c.874C>G	-	p.L292V	4.36	0.009	0.003	Thompson et al., 2013	DNA	SEQ	MLH1_02111	-	-	-
?/?	10	c.875T>A	-	p.L292Q	16.62	0.866	0.7046	Thompson et al., 2013	DNA	SEQ	MLH1_02112	-	-	-
?/?	10	c.875T>C	-	p.L292P	17.54	0.866	0.7294	Thompson et al., 2013	DNA	SEQ	MLH1_02113	-	-	-
?/?	10	c.875T>G	-	p.L292R	34.8	0.916	0.9405	Thompson et al., 2013	DNA	SEQ	MLH1_02114	-	-	-
?/?	10	c.877T>A	-	p.Y293N	17.86	0.999	0.8319	Thompson et al., 2013	DNA	SEQ	MLH1_02115	-	-	-
?/?	10	c.877T>C	-	p.Y293H	16.52	0.999	0.8057	Thompson et al., 2013	DNA	SEQ	MLH1_02116	-	-	-
?/?	10	c.877T>G	-	p.Y293D	35.81	0.999	0.96	Thompson et al., 2013	DNA	SEQ	MLH1_02117	-	-	-
?/?	10	c.878A>C	-	p.Y293S	18.59	0.999	0.8442	Thompson et al., 2013	DNA	SEQ	MLH1_02118	-	-	-
?/?	10	c.878A>G	-	p.Y293C	23.02	1	0.8984	Thompson et al., 2013	DNA	SEQ	MLH1_02119	-	-	-
?/?	10	c.878A>T	-	p.Y293F	22.82	0.999	0.8962	Thompson et al., 2013	DNA	SEQ	MLH1_02120	-	-	-
?/?	10	c.880C>A	-	p.L294I	5.1	0.548	0.0404	Thompson et al., 2013	DNA	SEQ	MLH1_02121	-	-	-
?/?	10	c.880C>G	-	p.L294V	10.31	0.682	0.2692	Thompson et al., 2013	DNA	SEQ	MLH1_02122	-	-	-
?/?	10	c.880C>T	-	p.L294F	4.76	0.26	0.0105	Thompson et al., 2013	DNA	SEQ	MLH1_02123	-	-	-
?/?	10	c.881T>A	-	p.L294H	15.34	0.963	0.7504	Thompson et al., 2013	DNA	SEQ	MLH1_02124	-	-	-
?/?	10	c.881T>C	-	p.L294P	19.3	0.963	0.835	Thompson et al., 2013	DNA	SEQ	MLH1_02125	-	-	-
?/?	10	c.881T>G	-	p.L294R	37.1	0.978	0.9597	Thompson et al., 2013	DNA	SEQ	MLH1_02126	-	-	-
?/?	10	c.883A>C	-	p.S295R	36.37	0.981	0.9584	Thompson et al., 2013	DNA	SEQ	MLH1_02127	-	-	-
?/?	10	c.883A>G	-	p.S295G	9.08	0.966	0.4807	Thompson et al., 2013	DNA	SEQ	MLH1_02128	-	-	-
?/?	10	c.883A>T	-	p.S295C	20.41	0.948	0.8435	Thompson et al., 2013	DNA	SEQ	MLH1_02129	-	-	-
?/?	10	c.884G>A	-	p.S295N	14.09	0.975	0.7229	Thompson et al., 2013	DNA	SEQ	MLH1_02130	-	-	-
?/?	10	c.884G>C	-	p.S295T	13.44	0.909	0.6388	Thompson et al., 2013	DNA	SEQ	MLH1_02131	-	-	-
?/?	10	c.884G>T	-	p.S295I	29.33	0.42	0.5643	Thompson et al., 2013	DNA	SEQ	MLH1_02132	-	-	-
?/?	11	c.885T>A	-	p.S295R	36.37	0.981	0.9584	Thompson et al., 2013	DNA	SEQ	MLH1_02133	-	-	-
?/?	11	c.885T>G	-	p.S295R	36.37	0.981	0.9584	Thompson et al., 2013	DNA	SEQ	MLH1_02134	-	-	-
?/?	11	c.886T>A	-	p.L296I	3.89	0.844	0.0744	Thompson et al., 2013	DNA	SEQ	MLH1_02135	-	-	-
?/?	11	c.886T>G	-	p.L296V	9.01	0.395	0.074	Thompson et al., 2013	DNA	SEQ	MLH1_02136	-	-	-
?/?	11	c.887T>C	-	p.L296S	17.99	0.981	0.8233	Thompson et al., 2013	DNA	SEQ	MLH1_02137	-	-	-
?/?	11	c.888A>C	-	p.L296F	7.45	0.981	0.3864	Thompson et al., 2013	DNA	SEQ	MLH1_02138	-	-	-
?/?	11	c.888A>T	-	p.L296F	7.45	0.981	0.3864	Thompson et al., 2013	DNA	SEQ	MLH1_02139	-	-	-
?/?	11	c.889G>A	-	p.E297K	6.52	0.052	0.0088	Thompson et al., 2013	DNA	SEQ	MLH1_02140	-	-	-
?/?	11	c.889G>C	-	p.E297Q	5.38	0.06	0.0059	Thompson et al., 2013	DNA	SEQ	MLH1_02141	-	-	-
?/?	11	c.890A>C	-	p.E297A	20.61	0.58	0.5348	Thompson et al., 2013	DNA	SEQ	MLH1_02142	-	-	-
?/?	11	c.890A>G	-	p.E297G	13.49	0.421	0.1824	Thompson et al., 2013	DNA	SEQ	MLH1_02143	-	-	-
?/?	11	c.890A>T	-	p.E297V	28.71	0.052	0.2046	Thompson et al., 2013	DNA	SEQ	MLH1_02144	-	-	-
?/?	11	c.891A>C	-	p.E297D	4.73	0.03	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_02145	-	-	-
?/?	11	c.891A>T	-	p.E297D	4.73	0.03	0.0039	Thompson et al., 2013	DNA	SEQ	MLH1_02146	-	-	-
?/?	11	c.892A>C	-	p.I298L	3.55	0.178	0.0038	Thompson et al., 2013	DNA	SEQ	MLH1_02147	-	-	-
?/?	11	c.892A>G	-	p.I298V	9.6	0.697	0.2504	Thompson et al., 2013	DNA	SEQ	MLH1_02148	-	-	-
?/?	11	c.892A>T	-	p.I298F	8.07	0.957	0.4054	Thompson et al., 2013	DNA	SEQ	MLH1_02149	-	-	-
?/?	11	c.893T>A	-	p.I298N	21.87	0.988	0.8821	Thompson et al., 2013	DNA	SEQ	MLH1_02150	-	-	-
?/?	11	c.893T>C	-	p.I298T	17.22	0.942	0.7813	Thompson et al., 2013	DNA	SEQ	MLH1_02151	-	-	-
?/?	11	c.893T>G	-	p.I298S	21.59	0.957	0.8642	Thompson et al., 2013	DNA	SEQ	MLH1_02152	-	-	-
?/?	11	c.894C>G	-	p.I298M	7.61	0.576	0.1053	Thompson et al., 2013	DNA	SEQ	MLH1_02153	-	-	-
?/?	11	c.895A>C	-	p.S299R	29	0.15	0.2855	Thompson et al., 2013	DNA	SEQ	MLH1_02154	-	-	-
?/?	11	c.895A>G	-	p.S299G	2.81	0.091	0.0016	Thompson et al., 2013	DNA	SEQ	MLH1_02155	-	-	-
?/?	11	c.895A>T	-	p.S299C	2.87	0.039	0.0013	Thompson et al., 2013	DNA	SEQ	MLH1_02156	-	-	-
?/?	11	c.896G>A	-	p.S299N	8.46	0.013	0.0134	Thompson et al., 2013	DNA	SEQ	MLH1_02157	-	-	-
?/?	11	c.896G>C	-	p.S299T	4.08	0.006	0.0025	Thompson et al., 2013	DNA	SEQ	MLH1_02158	-	-	-
?/?	11	c.896G>T	-	p.S299I	4.16	0.227	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_02159	-	-	-
?/?	11	c.897T>A	-	p.S299R	29	0.15	0.2855	Thompson et al., 2013	DNA	SEQ	MLH1_02160	-	-	-
?/?	11	c.897T>G	-	p.S299R	29	0.15	0.2855	Thompson et al., 2013	DNA	SEQ	MLH1_02161	-	-	-
?/?	11	c.898C>A	-	p.P300T	3.79	0.84	0.0693	Thompson et al., 2013	DNA	SEQ	MLH1_02162	-	-	-
?/?	11	c.898C>G	-	p.P300A	13.5	0.938	0.6691	Thompson et al., 2013	DNA	SEQ	MLH1_02163	-	-	-
?/?	11	c.898C>T	-	p.P300S	8.17	0.985	0.4413	Thompson et al., 2013	DNA	SEQ	MLH1_02164	-	-	-
?/?	11	c.899C>A	-	p.P300H	12.62	0.999	0.6923	Thompson et al., 2013	DNA	SEQ	MLH1_02165	-	-	-
?/?	11	c.899C>G	-	p.P300R	33.45	0.997	0.9532	Thompson et al., 2013	DNA	SEQ	MLH1_02166	-	-	-
?/?	11	c.899C>T	-	p.P300L	27.25	0.994	0.9267	Thompson et al., 2013	DNA	SEQ	MLH1_02167	-	-	-
?/?	11	c.901C>A	-	p.Q301K	4.08	0.019	0.0027	Thompson et al., 2013	DNA	SEQ	MLH1_02168	-	-	-
?/?	11	c.901C>G	-	p.Q301E	5.65	0.062	0.0067	Thompson et al., 2013	DNA	SEQ	MLH1_02169	-	-	-
?/?	11	c.902A>C	-	p.Q301P	11.15	0.452	0.1418	Thompson et al., 2013	DNA	SEQ	MLH1_02170	-	-	-
?/?	11	c.902A>G	-	p.Q301R	5.69	0.038	0.0061	Thompson et al., 2013	DNA	SEQ	MLH1_02171	-	-	-
?/?	11	c.902A>T	-	p.Q301L	7.5	0.147	0.018	Thompson et al., 2013	DNA	SEQ	MLH1_02172	-	-	-
?/?	11	c.903G>C	-	p.Q301H	3.13	0.033	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02173	-	-	-
?/?	11	c.903G>T	-	p.Q301H	3.13	0.033	0.0015	Thompson et al., 2013	DNA	SEQ	MLH1_02174	-	-	-
?/?	11	c.904A>C	-	p.N302H	5.45	0.383	0.0237	Thompson et al., 2013	DNA	SEQ	MLH1_02175	-	-	-
?/?	11	c.904A>G	-	p.N302D	14.34	0.96	0.718	Thompson et al., 2013	DNA	SEQ	MLH1_02176	-	-	-
?/?	11	c.904A>T	-	p.N302Y	7.88	0.939	0.3743	Thompson et al., 2013	DNA	SEQ	MLH1_02177	-	-	-
?/?	11	c.905A>C	-	p.N302T	7.41	0.896	0.3022	Thompson et al., 2013	DNA	SEQ	MLH1_02178	-	-	-
?/?	11	c.905A>G	-	p.N302S	7.57	0.418	0.056	Thompson et al., 2013	DNA	SEQ	MLH1_02179	-	-	-
?/?	11	c.905A>T	-	p.N302I	26.68	0.922	0.8986	Thompson et al., 2013	DNA	SEQ	MLH1_02180	-	-	-
?/?	11	c.906T>A	-	p.N302K	10.33	0.896	0.4794	Thompson et al., 2013	DNA	SEQ	MLH1_02181	-	-	-
?/?	11	c.906T>G	-	p.N302K	10.33	0.896	0.4794	Thompson et al., 2013	DNA	SEQ	MLH1_02182	-	-	-
?/?	11	c.907G>A	-	p.V303M	13.43	0.95	0.6777	Thompson et al., 2013	DNA	SEQ	MLH1_02183	-	-	-
?/?	11	c.907G>C	-	p.V303L	7.77	0.078	0.0146	Thompson et al., 2013	DNA	SEQ	MLH1_02184	-	-	-
?/?	11	c.907G>T	-	p.V303L	7.77	0.078	0.0146	Thompson et al., 2013	DNA	SEQ	MLH1_02185	-	-	-
?/?	11	c.908T>A	-	p.V303E	31.78	0.935	0.9331	Thompson et al., 2013	DNA	SEQ	MLH1_02186	-	-	-
?/?	11	c.908T>C	-	p.V303A	12.1	0.852	0.5223	Thompson et al., 2013	DNA	SEQ	MLH1_02187	-	-	-
?/?	11	c.908T>G	-	p.V303G	13.85	0.961	0.7027	Thompson et al., 2013	DNA	SEQ	MLH1_02188	-	-	-
?/?	11	c.910G>A	-	p.D304N	13.97	1	0.74	Thompson et al., 2013	DNA	SEQ	MLH1_02189	-	-	-
?/?	11	c.910G>C	-	p.D304H	20.32	1	0.8695	Thompson et al., 2013	DNA	SEQ	MLH1_01620	-	-	-
?/?	11	c.910G>T	-	p.D304Y	21.06	1	0.8784	Thompson et al., 2013	DNA	SEQ	MLH1_01621	-	-	-
?/?	11	c.911A>C	-	p.D304A	29.51	1	0.9395	Thompson et al., 2013	DNA	SEQ	MLH1_01622	-	-	-
?/?	11	c.911A>G	-	p.D304G	20.85	1	0.876	Thompson et al., 2013	DNA	SEQ	MLH1_01623	-	-	-
?/?	11	c.911A>T	-	p.D304V	22.25	1	0.8911	Thompson et al., 2013	DNA	SEQ	MLH1_01624	-	-	-
?/?	11	c.912T>A	-	p.D304E	23.98	0.999	0.9062	Thompson et al., 2013	DNA	SEQ	MLH1_01625	-	-	-
?/?	11	c.912T>G	-	p.D304E	23.98	0.999	0.9062	Thompson et al., 2013	DNA	SEQ	MLH1_01626	-	-	-
?/?	11	c.913G>A	-	p.V305I	11.96	0.997	0.6638	Thompson et al., 2013	DNA	SEQ	MLH1_01627	-	-	-
?/?	11	c.913G>C	-	p.V305L	20.81	0.997	0.8741	Thompson et al., 2013	DNA	SEQ	MLH1_01628	-	-	-
?/?	11	c.913G>T	-	p.V305F	21.09	0.999	0.8783	Thompson et al., 2013	DNA	SEQ	MLH1_01629	-	-	-
?/?	11	c.914T>A	-	p.V305D	33.13	0.999	0.9527	Thompson et al., 2013	DNA	SEQ	MLH1_01630	-	-	-
?/?	11	c.914T>C	-	p.V305A	27.75	0.999	0.9308	Thompson et al., 2013	DNA	SEQ	MLH1_01631	-	-	-
?/?	11	c.914T>G	-	p.V305G	23.22	0.999	0.8998	Thompson et al., 2013	DNA	SEQ	MLH1_01632	-	-	-
?/?	11	c.916A>C	-	p.N306H	14.29	1	0.7497	Thompson et al., 2013	DNA	SEQ	MLH1_01633	-	-	-
?/?	11	c.916A>G	-	p.N306D	29.27	0.999	0.9382	Thompson et al., 2013	DNA	SEQ	MLH1_01634	-	-	-
?/?	11	c.916A>T	-	p.N306Y	20.2	1	0.8679	Thompson et al., 2013	DNA	SEQ	MLH1_01635	-	-	-
?/?	11	c.917A>C	-	p.N306T	16.73	1	0.8108	Thompson et al., 2013	DNA	SEQ	MLH1_01636	-	-	-
?/?	11	c.917A>G	-	p.N306S	13.4	0.999	0.7205	Thompson et al., 2013	DNA	SEQ	MLH1_01637	-	-	-
?/?	11	c.917A>T	-	p.N306I	22.05	1	0.8891	Thompson et al., 2013	DNA	SEQ	MLH1_01638	-	-	-
?/?	11	c.918T>A	-	p.N306K	25.31	1	0.9164	Thompson et al., 2013	DNA	SEQ	MLH1_01639	-	-	-
?/?	11	c.918T>G	-	p.N306K	25.31	1	0.9164	Thompson et al., 2013	DNA	SEQ	MLH1_01640	-	-	-

1901 - 2000
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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: [ MLH1_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. MAPP score: output score from MAPP Custom PP2.1 score: Custom PolyPhen 2.1 score 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. MLH1 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 MLH1 priors (MLH1_priors)