Knowledge base for genomic medicine in Japanese
原発性免疫不全症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)ATMPathogenic11108160395108160395ATcriteria provided, multiple submitters, no conflictsClinGen:CA382531617
single nucleotide variantNM_000051.4(ATM):c.5497-2A>CATMPathogenic/Likely pathogenic11108175400108175400ACcriteria provided, multiple submitters, no conflictsClinGen:CA382545605
IndelNM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)ATMPathogenic/Likely pathogenic11108186556108186556CAAcriteria provided, multiple submitters, no conflictsClinGen:CA658656175
single nucleotide variantNM_000051.4(ATM):c.6327G>A (p.Trp2109Ter)ATMPathogenic11108188228108188228GAcriteria provided, single submitterClinGen:CA382552243
single nucleotide variantNM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)ATMPathogenic/Likely pathogenic11108192065108192065GTcriteria provided, multiple submitters, no conflictsClinGen:CA382554013
single nucleotide variantNM_000051.4(ATM):c.7865C>T (p.Ala2622Val)ATMPathogenic/Likely pathogenic11108203565108203565CTcriteria provided, multiple submitters, no conflictsClinGen:CA382561402
single nucleotide variantNM_000051.4(ATM):c.8152-1G>AATMPathogenic/Likely pathogenic11108206571108206571GAcriteria provided, multiple submitters, no conflictsClinGen:CA382562325
DeletionNM_000051.4(ATM):c.8585-13_8598delATMPathogenic/Likely pathogenic11108217991108218017TTTCTTTTTTCTCCAGTTGGTTACATACTcriteria provided, multiple submitters, no conflictsClinGen:CA658656263
single nucleotide variantNM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)ATMPathogenic/Likely pathogenic11108225544108225544TAcriteria provided, multiple submitters, no conflictsClinGen:CA382525570
DeletionNC_000011.9:g.(?_108150212)_(108216641_?)delATMPathogenic11108150212108216641nanacriteria provided, single submitter-