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.2877C>G (p.Tyr959Ter)	ATM	Likely pathogenic	11	108141829	108141829	C	G	criteria provided, single submitter	ClinGen:CA16041395
Duplication	NM_000051.4(ATM):c.2999dup (p.Asn1000fs)	ATM	Pathogenic/Likely pathogenic	11	108142050	108142051	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041396
Deletion	NM_000051.4(ATM):c.3068del (p.Gly1023fs)	ATM	Likely pathogenic	11	108142123	108142123	TG	T	criteria provided, single submitter	ClinGen:CA16041397
Duplication	NM_000051.4(ATM):c.3231dup (p.Leu1078fs)	ATM	Pathogenic/Likely pathogenic	11	108143523	108143524	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041398
Duplication	NM_000051.4(ATM):c.3315dup (p.Arg1106fs)	ATM	Pathogenic/Likely pathogenic	11	108150246	108150247	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041399
Deletion	NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)	ATM	Pathogenic/Likely pathogenic	11	108150282	108150285	GCAAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041400
single nucleotide variant	NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)	ATM	Pathogenic/Likely pathogenic	11	108151860	108151860	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041401
single nucleotide variant	NM_000051.4(ATM):c.3577-1G>C	ATM	Likely pathogenic	11	108153436	108153436	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041402
Deletion	NM_000051.4(ATM):c.3603del (p.Phe1201fs)	ATM	Pathogenic/Likely pathogenic	11	108153460	108153460	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041403
single nucleotide variant	NM_000051.4(ATM):c.3747-2A>G	ATM	Pathogenic/Likely pathogenic	11	108154952	108154952	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041404