Knowledge base for genomic medicine in Japanese
遺伝性パラガングリオーマ・褐色細胞腫症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_003000.3(SDHB):c.287-1G>CSDHBPathogenic/Likely pathogenic11735523217355232CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_003000.3(SDHB):c.575G>C (p.Cys192Ser)SDHBLikely pathogenic11735053517350535CGcriteria provided, single submitter-
single nucleotide variantNM_003000.3(SDHB):c.600G>A (p.Trp200Ter)SDHBPathogenic/Likely pathogenic11735051017350510CTcriteria provided, multiple submitters, no conflicts-
duplicationNM_003000.2(SDHB):c.111_112dup (p.Arg38fs)SDHBPathogenic11737134317371344CCGGcriteria provided, single submitter-
deletionNM_017849.3(TMEM127):c.265_268del (p.Thr89fs)TMEM127Pathogenic29692071296920715ACTGTAcriteria provided, single submitter-
single nucleotide variantNM_017849.3(TMEM127):c.3G>T (p.Met1Ile)TMEM127Pathogenic29693111796931117CAcriteria provided, single submitter-
single nucleotide variantNM_017849.3(TMEM127):c.409+1G>TTMEM127Pathogenic29692057096920570CAcriteria provided, single submitter-
single nucleotide variantNM_003000.2(SDHB):c.286+2T>ASDHBPathogenic11735955317359553ATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_003000.2(SDHB):c.386C>G (p.Pro129Arg)SDHBLikely pathogenic11735513217355132GCcriteria provided, single submitter-
deletionNM_017849.3(TMEM127):c.248del (p.Phe83fs)TMEM127Pathogenic29692073296920732GAGcriteria provided, multiple submitters, no conflicts-