Knowledge base for genomic medicine in Japanese
家族性地中海熱
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000243.3(MEFV):c.2080A>G (p.Met694Val)MEFVPathogenic/Likely pathogenic1632934073293407TCcriteria provided, multiple submitters, no conflictsOMIM:608107.0001,ClinGen:CA280091,UniProtKB:O15553#VAR_009062,ClinVar:1802172
single nucleotide variantNM_000243.3(MEFV):c.2082G>A (p.Met694Ile)MEFVPathogenic/Likely pathogenic1632934053293405CTcriteria provided, multiple submitters, no conflictsClinGen:CA280093,UniProtKB:O15553#VAR_009061,OMIM:608107.0002,OMIM:608107.0018,ClinVar:2555
single nucleotide variantNM_000243.3(MEFV):c.2177T>C (p.Val726Ala)MEFVPathogenic/Likely pathogenic1632933103293310AGcriteria provided, multiple submitters, no conflictsOMIM:608107.0003,ClinGen:CA280095,UniProtKB:O15553#VAR_009065,ClinVar:1802172
single nucleotide variantNM_000243.3(MEFV):c.2282G>A (p.Arg761His)MEFVPathogenic/Likely pathogenic1632932053293205CTcriteria provided, multiple submitters, no conflictsClinGen:CA280110,UniProtKB:O15553#VAR_009067,OMIM:608107.0012
single nucleotide variantNM_000243.3(MEFV):c.2040G>A (p.Met680Ile)MEFVPathogenic1632934473293447CTcriteria provided, multiple submitters, no conflictsClinGen:CA280112,UniProtKB:O15553#VAR_028343,OMIM:608107.0013
single nucleotide variantNM_000243.3(MEFV):c.2040G>C (p.Met680Ile)MEFVPathogenic1632934473293447CGcriteria provided, multiple submitters, no conflictsClinGen:CA280267,UniProtKB:O15553#VAR_028343,OMIM:608107.0004
single nucleotide variantNM_000243.3(MEFV):c.726C>A (p.Ser242Arg)MEFVPathogenic1633043423304342GTcriteria provided, single submitterClinGen:CA280647
single nucleotide variantNM_000243.3(MEFV):c.2040G>T (p.Met680Ile)MEFVLikely pathogenic1632934473293447CAcriteria provided, single submitterClinGen:CA10577519,UniProtKB:O15553#VAR_028343
IndelNM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)MEFVPathogenic1632934053293407CATTACcriteria provided, single submitterClinGen:CA658656509