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)
DeletionNM_000143.4(FH):c.1293del (p.Glu432fs)FHPathogenic1241663834241663834CTCcriteria provided, multiple submitters, no conflictsClinGen:CA285325,OMIM:136850.0015
DeletionNM_000143.4(FH):c.1446_1449del (p.Glu484fs)FHPathogenic1241661212241661215CCTTTCcriteria provided, single submitterClinGen:CA220380
single nucleotide variantNM_000143.4(FH):c.320A>C (p.Asn107Thr)FHPathogenic/Likely pathogenic1241676961241676961TGcriteria provided, multiple submitters, no conflictsClinGen:CA257456,UniProtKB:P07954#VAR_013497,OMIM:136850.0004
single nucleotide variantNM_000143.4(FH):c.560C>G (p.Ser187Ter)FHPathogenic1241672081241672081GCcriteria provided, multiple submitters, no conflictsClinGen:CA220384
single nucleotide variantNM_000143.4(FH):c.760C>T (p.Gln254Ter)FHPathogenic1241669447241669447GAcriteria provided, multiple submitters, no conflictsClinGen:CA220387
single nucleotide variantNM_000143.4(FH):c.952C>T (p.His318Tyr)FHPathogenic/Likely pathogenic1241667498241667498GAcriteria provided, multiple submitters, no conflictsClinGen:CA285329
single nucleotide variantNM_000143.4(FH):c.697C>T (p.Arg233Cys)FHPathogenic1241671944241671944GAcriteria provided, multiple submitters, no conflictsClinGen:CA165194
single nucleotide variantNM_000143.4(FH):c.1000A>C (p.Ser334Arg)FHLikely pathogenic1241667450241667450TGcriteria provided, multiple submitters, no conflictsClinGen:CA167342
single nucleotide variantNM_000143.4(FH):c.557G>A (p.Ser186Asn)FHLikely pathogenic1241672084241672084CTcriteria provided, multiple submitters, no conflictsClinGen:CA169030
single nucleotide variantNM_000143.4(FH):c.1067T>A (p.Leu356Ter)FHPathogenic/Likely pathogenic1241667383241667383ATcriteria provided, multiple submitters, no conflictsClinGen:CA233988