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)
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_000243.2(MEFV):c.2060G>A (p.Gly687Asp)MEFVPathogenic1632934273293427CTcriteria provided, single submitter-
single nucleotide variantNM_000243.2(MEFV):c.1894G>A (p.Gly632Ser)MEFVLikely pathogenic1632935933293593CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):O15553#VAR_028335
deletionNM_000243.2(MEFV):c.2076_2078delAAT (p.Ile692del)MEFVPathogenic1632934093293411ATT-criteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608107.0009
single nucleotide variantNM_000243.2(MEFV):c.1759+1G>AMEFVPathogenic1632942533294253CTcriteria 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.826G>T (p.Glu276Ter)MEFVPathogenic1633042423304242CAcriteria provided, single submitter-
indelNM_000243.2(MEFV):c.2080_2082delATGinsGTA (p.Met694Val)MEFVPathogenic1632934053293407CATTACcriteria provided, single submitter-
single nucleotide variantNM_000243.2(MEFV):c.2080A>G (p.Met694Val)MEFVPathogenic/Likely pathogenic1632934073293407TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608107.0001,UniProtKB (protein):O15553#VAR_009062
single nucleotide variantNM_000243.2(MEFV):c.2082G>A (p.Met694Ile)MEFVPathogenic1632934053293405CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608107.0002,OMIM Allelic Variant:608107.0018,UniProtKB (protein):O15553#VAR_009061