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	NC_000011.10:g.(?_108227615)_(108365518_?)del	ATM	Pathogenic	11	108098342	108236245	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108365072)_(108365518_?)del	ATM	Pathogenic	11	108235799	108236245	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108267165)_(108365514_?)del	ATM	Pathogenic	11	108137892	108236241	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108365076)_(108365514_?)del	ATM	Pathogenic	11	108235803	108236241	na	na	criteria provided, single submitter	-
Deletion	NC_000011.9:g.(?_108178618)_(108236241_?)del	ATM	Pathogenic	11	108178618	108236241	na	na	criteria provided, single submitter	-
Deletion	NM_000051.3(ATM):c.3403-?_*(1_?)del	ATM	Pathogenic	11	108151722	108236236	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108365082)_(108365508_?)del	ATM	Pathogenic	11	108235809	108236235	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.9146del (p.Phe3049fs)	ATM	Likely pathogenic	11	108236207	108236207	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	ATM	Pathogenic	11	108236203	108236203	C	T	reviewed by expert panel	ClinGen:CA115937,OMIM:607585.0012
Duplication	NM_000051.4(ATM):c.9131dup (p.Asn3044fs)	ATM	Pathogenic	11	108236190	108236191	C	CA	criteria provided, single submitter	-