Knowledge base for genomic medicine in Japanese
遺伝性平滑筋腫症−腎細胞がん症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000143.4(FH):c.1084G>C (p.Glu362Gln)FHLikely pathogenic1241667366241667366CGcriteria provided, single submitterClinGen:CA257453,OMIM:136850.0002
single nucleotide variantNM_000143.4(FH):c.301C>T (p.Arg101Ter)FHPathogenic1241676980241676980GAcriteria provided, multiple submitters, no conflictsOMIM:136850.0003,ClinGen:CA167288
single nucleotide variantNM_000143.4(FH):c.1027C>T (p.Arg343Ter)FHPathogenic1241667423241667423GAcriteria provided, multiple submitters, no conflictsClinGen:CA167294,OMIM:136850.0006
single nucleotide variantNM_000143.4(FH):c.698G>A (p.Arg233His)FHPathogenic1241671943241671943CTcriteria provided, multiple submitters, no conflictsClinGen:CA257459,UniProtKB:P07954#VAR_013501,OMIM:136850.0007
single nucleotide variantNM_000143.4(FH):c.698G>T (p.Arg233Leu)FHPathogenic/Likely pathogenic1241671943241671943CAcriteria provided, multiple submitters, no conflictsClinGen:CA257461,OMIM:136850.0008
single nucleotide variantNM_000143.4(FH):c.302G>C (p.Arg101Pro)FHPathogenic/Likely pathogenic1241676979241676979CGcriteria provided, multiple submitters, no conflictsClinGen:CA341389,OMIM:136850.0009
single nucleotide variantNM_000143.4(FH):c.1020T>A (p.Asn340Lys)FHPathogenic/Likely pathogenic1241667430241667430ATcriteria provided, multiple submitters, no conflictsClinGen:CA285319
single nucleotide variantNM_000143.4(FH):c.1126C>T (p.Gln376Ter)FHPathogenic/Likely pathogenic1241665853241665853GAcriteria provided, multiple submitters, no conflictsClinGen:CA220373
DeletionNM_000143.4(FH):c.1200del (p.Asn400fs)FHPathogenic1241665779241665779CACcriteria provided, single submitterClinGen:CA220379
single nucleotide variantNM_000143.4(FH):c.1255T>C (p.Ser419Pro)FHPathogenic/Likely pathogenic1241663872241663872AGcriteria provided, multiple submitters, no conflictsClinGen:CA285322