遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)	ATM	Pathogenic	11	108199878	108199878	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382559660
single nucleotide variant	NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)	ATM	Pathogenic	11	108214083	108214083	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382516731
Duplication	NM_000051.4(ATM):c.1838dup (p.Ser614fs)	ATM	Pathogenic	11	108123578	108123579	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797791
Insertion	NM_000051.4(ATM):c.2201_2202insC (p.Ile735fs)	ATM	Pathogenic	11	108127018	108127019	T	TC	criteria provided, single submitter	ClinGen:CA601696182
single nucleotide variant	NM_000051.4(ATM):c.2467-2A>T	ATM	Likely pathogenic	11	108137896	108137896	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382543077
single nucleotide variant	NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)	ATM	Pathogenic	11	108139175	108139175	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382545129
single nucleotide variant	NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter)	ATM	Pathogenic	11	108143259	108143259	G	A	criteria provided, single submitter	ClinGen:CA382514980
Duplication	NM_000051.4(ATM):c.4344dup (p.Leu1449fs)	ATM	Pathogenic	11	108160435	108160436	T	TA	criteria provided, single submitter	ClinGen:CA658795364
Deletion	NM_000051.4(ATM):c.5982del (p.Glu1995fs)	ATM	Pathogenic	11	108183199	108183199	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797724
single nucleotide variant	NM_000051.4(ATM):c.6006+1G>C	ATM	Pathogenic/Likely pathogenic	11	108183226	108183226	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548820