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.5931del (p.Phe1977fs)	ATM	Pathogenic	11	108183148	108183148	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter)	ATM	Pathogenic	11	108188123	108188123	C	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7274del (p.Gly2425fs)	ATM	Pathogenic	11	108199931	108199931	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter)	ATM	Pathogenic	11	108202744	108202744	C	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.8148_8151+2del	ATM	Likely pathogenic	11	108205831	108205836	TGTTAAG	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000051.4(ATM):c.8625_8627delinsAAAA (p.Asn2875fs)	ATM	Pathogenic	11	108218046	108218048	TAT	AAAA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs)	ATM	Pathogenic	11	108236101	108236104	ACTAC	A	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28724967)_(28725377_?)del	CHEK2	Pathogenic	22	29120955	29121365	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)	CHEK2	Pathogenic	22	29090027	29090027	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)	CHEK2	Pathogenic	22	29091762	29091763	C	CAGAAACA	criteria provided, multiple submitters, no conflicts	-