Knowledge base for genomic medicine in Japanese
家族性副甲状腺機能亢進症 (MEN以外)
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000001.11:g.(?_193122191)_(193250722_?)delCDC73Pathogenic1193091321193219852nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_193236246)_(193236366_?)delCDC73Pathogenic1193205376193205496nanacriteria provided, single submitter-
DuplicationNC_000001.10:g.(?_193172925)_(193205486_?)dupCDC73Likely pathogenic1193172925193205486nanacriteria provided, single submitter-
DeletionNM_024529.5(CDC73):c.1247del (p.Gly416fs)CDC73Pathogenic1193202211193202211AGAcriteria provided, single submitter-
DeletionNM_024529.5(CDC73):c.1052del (p.Pro351fs)CDC73Pathogenic1193181212193181212TCTcriteria provided, single submitterClinGen:CA658656978
single nucleotide variantNM_024529.5(CDC73):c.729+1G>TCDC73Likely pathogenic1193111197193111197GTcriteria provided, single submitterClinGen:CA16609963
IndelNM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs)CDC73Pathogenic1193111190193111192AGGCcriteria provided, single submitterClinGen:CA10602747
DeletionNM_024529.5(CDC73):c.718del (p.Ser240fs)CDC73Pathogenic1193111183193111183CACcriteria provided, single submitter-
single nucleotide variantNM_024529.5(CDC73):c.664C>T (p.Arg222Ter)CDC73Pathogenic1193111131193111131CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_024529.5(CDC73):c.505C>T (p.Gln169Ter)CDC73Pathogenic1193107296193107296CTcriteria provided, single submitterClinGen:CA343961378