Knowledge base for genomic medicine in Japanese
遺伝性乳がん (ATM/CHEK2)
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_007194.4(CHEK2):c.1259+1G>CCHEK2Pathogenic/Likely pathogenic222909169729091697CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_007194.4(CHEK2):c.444+1G>TCHEK2Pathogenic/Likely pathogenic222912123029121230CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000051.3(ATM):c.1235G>A (p.Trp412Ter)ATMPathogenic11108119829108119829GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000051.3(ATM):c.1339C>T (p.Arg447Ter)ATMPathogenic/Likely pathogenic11108121531108121531CTcriteria provided, multiple submitters, no conflicts-
short repeatNM_001351834.2(ATM):c.1562_1563GA[1] (p.Glu522fs)ATMPathogenic11108121753108121754CAGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000051.3(ATM):c.170G>A (p.Trp57Ter)ATMPathogenic11108098600108098600GAcriteria provided, multiple submitters, no conflicts-
duplicationNM_000051.3(ATM):c.2502dup (p.Val835fs)ATMPathogenic11108137931108137932GGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000051.3(ATM):c.2638+2T>CATMPathogenic/Likely pathogenic11108138071108138071TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter)ATMPathogenic/Likely pathogenic11108150305108150305CGcriteria provided, multiple submitters, no conflicts-
deletionNM_001351834.2(ATM):c.3802del (p.Glu1267_Val1268insTer)ATMPathogenic11108155008108155008AGAcriteria provided, multiple submitters, no conflicts-