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_000143.3(FH):c.1020T>A (p.Asn340Lys)FHPathogenic/Likely pathogenic1241667430241667430ATcriteria provided, multiple submitters, no conflictsHGMD:CM060264
single nucleotide variantNM_000143.3(FH):c.1126C>T (p.Gln376Ter)FHPathogenic1241665853241665853GAcriteria provided, multiple submitters, no conflicts-
deletionNM_000143.3(FH):c.1200del (p.Asn400fs)FHPathogenic1241665779241665779CACcriteria provided, single submitter-
single nucleotide variantNM_000143.3(FH):c.1255T>C (p.Ser419Pro)FHPathogenic/Likely pathogenic1241663872241663872AGcriteria provided, multiple submitters, no conflictsHGMD:CM060266
deletionNM_000143.3(FH):c.1293del (p.Glu432fs)FHPathogenic1241663834241663834CTCcriteria provided, multiple submitters, no conflictsHGMD:CD078039
deletionNM_000143.3(FH):c.1446_1449del (p.Glu484fs)FHPathogenic1241661212241661215CCTTTCcriteria provided, single submitter-
single nucleotide variantNM_000143.3(FH):c.320A>C (p.Asn107Thr)FHPathogenic/Likely pathogenic1241676961241676961TGcriteria provided, multiple submitters, no conflictsHGMD:CM020701,OMIM Allelic Variant:136850.0004,UniProtKB (protein):P07954#VAR_013497
single nucleotide variantNM_000143.3(FH):c.560C>G (p.Ser187Ter)FHPathogenic1241672081241672081GCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000143.3(FH):c.760C>T (p.Gln254Ter)FHPathogenic1241669447241669447GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000143.3(FH):c.952C>T (p.His318Tyr)FHPathogenic/Likely pathogenic1241667498241667498GAcriteria provided, multiple submitters, no conflictsHGMD:CM031677