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.971del (p.Cys324fs)	CHEK2	Pathogenic	22	29095863	29095863	GC	G	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1134del (p.Ser379fs)	CHEK2	Pathogenic	22	29091823	29091823	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)	CHEK2	Pathogenic	22	29095846	29095846	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs)	CHEK2	Likely pathogenic	22	29091128	29091129	CTT	C	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1164del (p.Thr389fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091793	29091793	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.869del (p.Asn290fs)	CHEK2	Pathogenic	22	29099532	29099532	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000022.11:g.(?_28734393)_(28734731_?)del	CHEK2	Pathogenic	22	29130381	29130719	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28709996)_(28712027_?)del	CHEK2	Pathogenic	22	29105984	29108015	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28703495)_(28703576_?)del	CHEK2	Pathogenic	22	29099483	29099564	na	na	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)	CHEK2	Pathogenic	22	29121274	29121275	ATC	A	criteria provided, multiple submitters, no conflicts	-