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.8585-13_8598del	ATM	Pathogenic/Likely pathogenic	11	108217991	108218017	TTTCTTTTTTCTCCAGTTGGTTACATAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656263
single nucleotide variant	NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)	ATM	Pathogenic/Likely pathogenic	11	108225544	108225544	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382525570
single nucleotide variant	NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29099549	29099549	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411101344
single nucleotide variant	NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29130478	29130478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411090665
Deletion	NC_000011.9:g.(?_108150212)_(108216641_?)del	ATM	Pathogenic	11	108150212	108216641	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	NC_000011.9:g.(?_108098346)_(108138075_?)del	ATM	Pathogenic	11	108098346	108138075	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108235664)_(108235840_?)del	ATM	Likely pathogenic	11	108106391	108106567	na	na	criteria provided, single submitter	-
Deletion	NC_000011.9:g.(?_108206566)_(108206694_?)del	ATM	Likely pathogenic	11	108206566	108206694	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.432del (p.Leu145fs)	ATM	Pathogenic	11	108106497	108106497	TA	T	criteria provided, single submitter	ClinGen:CA658656154