Knowledge base for genomic medicine in Japanese
家族性地中海熱
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
short repeatNM_001198536.1(MEFV):c.*246_*247CT[1]MEFVLikely pathogenic1632934423293443CAGCcriteria provided, single submitter-
indelNM_001198536.1(MEFV):c.*284_*286delinsGTAMEFVPathogenic1632934053293407CATTACcriteria provided, single submitter-
single nucleotide variantNM_000243.2(MEFV):c.826G>T (p.Glu276Ter)MEFVPathogenic1633042423304242CAcriteria provided, single submitter-
single nucleotide variantNM_000243.2(MEFV):c.2040G>T (p.Met680Ile)MEFVLikely pathogenic1632934473293447CAcriteria provided, single submitterUniProtKB (protein):O15553#VAR_028343
single nucleotide variantNM_000243.2(MEFV):c.1759+1G>AMEFVPathogenic1632942533294253CTcriteria provided, single submitter-
single nucleotide variantNM_000243.2(MEFV):c.2040G>C (p.Met680Ile)MEFVPathogenic1632934473293447CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608107.0004,UniProtKB (protein):O15553#VAR_028343
single nucleotide variantNM_000243.3(MEFV):c.2177T>C (p.Val726Ala)MEFVPathogenic/Likely pathogenic1632933103293310AGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608107.0003,UniProtKB (protein):O15553#VAR_009065
single nucleotide variantNM_000243.2(MEFV):c.2085G>C (p.Lys695Asn)MEFVLikely pathogenic1632934023293402CGcriteria provided, single submitter-