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.739-2A>CFHPathogenic1241669470241669470TGcriteria provided, single submitterClinGen:CA345439135
single nucleotide variantNM_000143.4(FH):c.379-1G>AFHPathogenic1241675444241675444CTcriteria provided, multiple submitters, no conflictsClinGen:CA345440237
single nucleotide variantNM_000143.4(FH):c.653T>C (p.Leu218Pro)FHPathogenic1241671988241671988AGcriteria provided, single submitterClinGen:CA345439305
single nucleotide variantNM_000143.4(FH):c.583A>G (p.Met195Val)FHPathogenic/Likely pathogenic1241672058241672058TCcriteria provided, multiple submitters, no conflictsClinGen:CA345439454
single nucleotide variantNM_000143.4(FH):c.905-1G>CFHLikely pathogenic1241667546241667546CGcriteria provided, single submitterClinGen:CA345438437
DuplicationNM_000143.4(FH):c.237dup (p.Lys80Ter)FHPathogenic1241680511241680512TTAcriteria provided, multiple submitters, no conflictsClinGen:CA658657002
DeletionNM_000143.4(FH):c.675del (p.Phe225fs)FHPathogenic1241671966241671966CACcriteria provided, single submitterClinGen:CA658795656
DuplicationNM_000143.4(FH):c.221dup (p.Ser75fs)FHPathogenic1241680527241680528TTCcriteria provided, single submitterClinGen:CA658795648
IndelNM_000143.4(FH):c.81delinsAT (p.Leu28fs)FHLikely pathogenic1241682942241682942GATcriteria provided, single submitterClinGen:CA658795650
single nucleotide variantNM_000143.4(FH):c.999C>A (p.Cys333Ter)FHPathogenic1241667451241667451GTcriteria provided, multiple submitters, no conflictsClinGen:CA345438252