Sequence variations are described basically as recommended by the Ad-Hoc Nomenclature Committee of the Human Genome Variation Society (HGVS). For the most recent recommendations see the HGVS "Nomenclature for the description of sequence variants" web page. The most recent publication on the subject is by den Dunnen JT & Antonarakis SE (2000), Hum.Mut. 15: 7-12. NOTE: in all cases, unless indicated otherwise, all data of an entry are as reported by the author(s)/submitter. 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. Protein: Predicted effect of change on protein (usually without experimental proof!) ? = unknown (0) = change expected to abolish translation ?fs = frame shift, but observed phenotype does not fit with prediction (for instance less severe phenotype (BMD) observed, more severe phenotype (DMD) expected) ?no fs = frame shift, but observed phenotype does not fit with prediction (for instance more severe phenotype (DMD) observed, less severe phenotype (BMD) expected) del = causes deletion fs = causes frame shift fs? = effect on reading frame very likely (no experimental proof) (fs?) = might affect the reading frame (no experimental proof) no fs = does not cause frame shift X = stop codon (nonsense) MAPP/PP2 Prior P: Prior probability of pathogenicity based on MAPP and PolyPhen-2 output Prior P: Prior probability of pathogenicity (used in Bayes Integrated Evaluation/Multifactorial Likelihood Analysis) IARC Classification: 5-tiered classification based on Posterior Probability InSiGHT Classification: 5-tiered classification on the InSiGHT database Tumour Char LR: Tumour characteristics likelihood ratio is a combination of microsatellite instability and BRAF likelihood ratios Segregation LR: Segregation likelihood ratio Odds for causality: Product of likelihood ratios Posterior P: Posterior probability of pathogenicity Reference: Literature reference with possible link to publication in PubMed, dbSNP entry or other online resource. "Submitted:" indicates that the mutation was submitted directly to this database by the laboratory indicated. MLH1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Disease: Disease phenotype of the patient(s). Reference: Literature reference with possible link to publication in PubMed, dbSNP entry or other online resource. "Submitted:" indicates that the mutation was submitted directly to this database by the laboratory indicated.