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_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)	CHEK2	Pathogenic	22	29115460	29115461	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)	CHEK2	Pathogenic	22	29120982	29120982	G	T	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.449del (p.Val150fs)	CHEK2	Pathogenic	22	29121108	29121108	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)	CHEK2	Pathogenic	22	29121267	29121267	G	T	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.269del (p.Pro90fs)	CHEK2	Pathogenic	22	29130441	29130441	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.252del (p.Glu84fs)	CHEK2	Pathogenic	22	29130458	29130458	GT	G	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.181del (p.Ser61fs)	CHEK2	Pathogenic	22	29130529	29130529	CT	C	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)	CHEK2	Pathogenic	22	29130625	29130632	TGGGACTGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	CHEK2	Pathogenic	22	29130679	29130679	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000011.10:g.(?_108267161)_(108272862_?)del	ATM	Pathogenic	11	108137888	108143589	na	na	criteria provided, single submitter	-