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.3382C>T (p.Gln1128Ter)	ATM	Pathogenic	11	108150315	108150315	C	T	criteria provided, single submitter	ClinGen:CA382517750
Duplication	NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)	ATM	Pathogenic	11	108151794	108151795	G	GCTGTGGTTTTATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656206
Deletion	NM_000051.4(ATM):c.3577-9_3583del	ATM	Pathogenic	11	108153427	108153442	GGTTCGTGCAGGTTTTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656220
Deletion	NM_000051.4(ATM):c.4056_4065del (p.His1352fs)	ATM	Pathogenic	11	108158387	108158396	ACATGAGCCAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656280
Duplication	NM_000051.4(ATM):c.5405dup (p.His1802fs)	ATM	Pathogenic	11	108173664	108173665	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656255
Deletion	NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)	ATM	Pathogenic/Likely pathogenic	11	108175414	108175415	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656259
single nucleotide variant	NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)	ATM	Pathogenic	11	108183190	108183190	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548737
single nucleotide variant	NM_000051.4(ATM):c.6198+2T>C	ATM	Pathogenic	11	108186842	108186842	T	C	criteria provided, single submitter	ClinGen:CA382550826
Deletion	NC_000011.10:g.(?_108365076)_(108365514_?)del	ATM	Pathogenic	11	108235803	108236241	na	na	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.6404dup (p.Arg2136fs)	ATM	Pathogenic	11	108190736	108190737	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656227