Knowledge base for genomic medicine in Japanese
遺伝性褐色細胞腫・パラガングリオーマ
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_017849.4(TMEM127):c.410-2A>CTMEM127Pathogenic29691985596919855TGcriteria provided, multiple submitters, no conflictsClinGen:CA113854,OMIM:613403.0001
single nucleotide variantNM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)TMEM127Pathogenic29691978896919788GAcriteria provided, multiple submitters, no conflictsClinGen:CA113855,OMIM:613403.0002
single nucleotide variantNM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)SDHAF2Pathogenic116120529261205292GAcriteria provided, multiple submitters, no conflictsClinGen:CA017320,UniProtKB:Q9NX18#VAR_058705,OMIM:613019.0001
single nucleotide variantNM_000551.4(VHL):c.548C>A (p.Ser183Ter)VHLPathogenic31019155510191555CAcriteria provided, multiple submitters, no conflictsClinGen:CA020473,OMIM:608537.0002
single nucleotide variantNM_000551.4(VHL):c.481C>T (p.Arg161Ter)VHLPathogenic31019148810191488CTcriteria provided, multiple submitters, no conflictsClinGen:CA020408,OMIM:608537.0006
single nucleotide variantNM_000551.4(VHL):c.499C>T (p.Arg167Trp)VHLPathogenic31019150610191506CTcriteria provided, multiple submitters, no conflictsClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003
single nucleotide variantNM_000551.4(VHL):c.499C>G (p.Arg167Gly)VHLPathogenic31019150610191506CGcriteria provided, multiple submitters, no conflictsClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004
single nucleotide variantNM_000551.4(VHL):c.334T>C (p.Tyr112His)VHLPathogenic31018386510183865TCcriteria provided, multiple submitters, no conflictsClinGen:CA020277,UniProtKB:P40337#VAR_005717,OMIM:608537.0012
single nucleotide variantNM_000551.4(VHL):c.292T>C (p.Tyr98His)VHLPathogenic31018382310183823TCcriteria provided, multiple submitters, no conflictsClinGen:CA020246,UniProtKB:P40337#VAR_005707,OMIM:608537.0009
single nucleotide variantNM_000551.4(VHL):c.496G>T (p.Val166Phe)VHLPathogenic31019150310191503GTcriteria provided, multiple submitters, no conflictsClinGen:CA020436,UniProtKB:P40337#VAR_005759,OMIM:608537.0013