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)
DuplicationNM_000051.4(ATM):c.4143dup (p.Pro1382fs)ATMPathogenic11108159733108159734AATcriteria provided, multiple submitters, no conflictsClinGen:CA298026
DuplicationNM_000051.4(ATM):c.4625dup (p.Leu1542fs)ATMPathogenic11108164051108164052GGTcriteria provided, multiple submitters, no conflictsClinGen:CA298018
InsertionNM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs)ATMPathogenic11108172397108172398GGTAcriteria provided, single submitterClinGen:CA298019
DeletionNM_000051.4(ATM):c.5320-5_5320-2delATMPathogenic/Likely pathogenic11108173575108173578TTCTATcriteria provided, multiple submitters, no conflictsClinGen:CA298027
single nucleotide variantNM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)ATMPathogenic/Likely pathogenic11108181014108181014ATcriteria provided, multiple submitters, no conflictsClinGen:CA298368
single nucleotide variantNM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)ATMPathogenic/Likely pathogenic11108186638108186638GAcriteria provided, multiple submitters, no conflictsClinGen:CA298296
single nucleotide variantNM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)ATMPathogenic11108196143108196143CTcriteria provided, multiple submitters, no conflictsClinGen:CA298317,UniProtKB:Q13315#VAR_010846
single nucleotide variantNM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)ATMPathogenic/Likely pathogenic11108204682108204682CAcriteria provided, multiple submitters, no conflictsClinGen:CA298325
single nucleotide variantNM_000051.4(ATM):c.8146G>T (p.Val2716Phe)ATMPathogenic/Likely pathogenic11108205831108205831GTcriteria provided, multiple submitters, no conflictsClinGen:CA298328
DeletionNM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)ATMPathogenic11108206684108206688TATAAGTcriteria provided, multiple submitters, no conflictsClinGen:CA276029