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
Deletion	NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)	ATM	Pathogenic	11	108115674	108115674	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349767
single nucleotide variant	NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	ATM	Pathogenic	11	108121561	108121561	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349954
single nucleotide variant	NM_000051.4(ATM):c.1607+1G>T	ATM	Pathogenic	11	108121800	108121800	G	T	reviewed by expert panel	ClinGen:CA348209
Duplication	NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)	ATM	Pathogenic	11	108124555	108124556	A	AAGATAAAGAAGAACTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA350744
single nucleotide variant	NM_000051.4(ATM):c.3077+1G>A	ATM	Likely pathogenic	11	108142134	108142134	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350862
single nucleotide variant	NM_000051.4(ATM):c.3284+1G>A	ATM	Likely pathogenic	11	108143580	108143580	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350813
single nucleotide variant	NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)	ATM	Pathogenic	11	108153523	108153523	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350108
single nucleotide variant	NM_000051.4(ATM):c.3994-159A>G	ATM	Likely pathogenic	11	108158168	108158168	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349592
single nucleotide variant	NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)	ATM	Pathogenic/Likely pathogenic	11	108163497	108163497	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349160
Deletion	NM_000051.4(ATM):c.5015del (p.Gly1672fs)	ATM	Pathogenic	11	108170449	108170449	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349969