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.1442T>G (p.Leu481Ter)ATMPathogenic11108121634108121634TGreviewed by expert panelClinGen:CA382534080
DeletionNM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer)ATMPathogenic11108123578108123581TGTGATcriteria provided, single submitterClinGen:CA658656174
single nucleotide variantNM_000051.4(ATM):c.1898+1G>TATMPathogenic/Likely pathogenic11108123640108123640GTcriteria provided, multiple submitters, no conflictsClinGen:CA382536128
single nucleotide variantNM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)ATMPathogenic11108127010108127010CAcriteria provided, multiple submitters, no conflictsClinGen:CA382538927
DeletionNM_000051.4(ATM):c.2922-50_2938delATMPathogenic11108141927108141993ATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGAcriteria provided, single submitterClinGen:CA658656157
DeletionNM_000051.4(ATM):c.3627del (p.Phe1209fs)ATMPathogenic11108153485108153485CTCcriteria provided, multiple submitters, no conflictsClinGen:CA169922
single nucleotide variantNM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)ATMPathogenic11108153533108153533CTcriteria provided, multiple submitters, no conflictsClinGen:CA382523231
DeletionNM_000051.4(ATM):c.3747-3_3751delATMLikely pathogenic11108154949108154956TTTTAGATCTcriteria provided, single submitterClinGen:CA658656246
DeletionNM_000051.4(ATM):c.4087del (p.Thr1363fs)ATMPathogenic11108158420108158420CACcriteria provided, single submitterClinGen:CA658656282
single nucleotide variantNM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)ATMPathogenic11108163518108163518CTcriteria provided, multiple submitters, no conflictsClinGen:CA382534097