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)
DeletionNM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)ATMPathogenic/Likely pathogenic11108170534108170538CTTAAGCcriteria provided, multiple submitters, no conflictsClinGen:CA658656233
DeletionNM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)ATMPathogenic11108178666108178667CAACcriteria provided, multiple submitters, no conflictsClinGen:CA658656268
single nucleotide variantNM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)ATMPathogenic11108183163108183163CTcriteria provided, single submitterClinGen:CA382548683
single nucleotide variantNM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)ATMPathogenic/Likely pathogenic11108200944108200944CAcriteria provided, multiple submitters, no conflictsClinGen:CA228418043
single nucleotide variantNM_000051.4(ATM):c.8671+1G>TATMLikely pathogenic11108218093108218093GTcriteria provided, multiple submitters, no conflictsClinGen:CA382521374
single nucleotide variantNM_000051.4(ATM):c.73-3C>GATMPathogenic/Likely pathogenic11108098500108098500CGcriteria provided, multiple submitters, no conflictsClinGen:CA658656135
single nucleotide variantNM_000051.4(ATM):c.362T>A (p.Leu121Ter)ATMPathogenic11108106427108106427TAcriteria provided, multiple submitters, no conflictsClinGen:CA6264593
DeletionNM_000051.4(ATM):c.964_968del (p.Glu322fs)ATMPathogenic11108117751108117755AATGAGAcriteria provided, multiple submitters, no conflictsClinGen:CA658656195
DuplicationNM_000051.4(ATM):c.441dup (p.Asp148fs)ATMPathogenic11108106503108106504CCAcriteria provided, multiple submitters, no conflictsClinGen:CA658656155
DuplicationNM_000051.4(ATM):c.442dup (p.Asp148fs)ATMPathogenic11108106506108106507AAGcriteria provided, multiple submitters, no conflictsClinGen:CA658656156