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_000022.11:g.(?_28724977)_(28725367_?)del	CHEK2	Pathogenic	22	29120965	29121355	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1462-1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29085204	29085204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616300
Deletion	NC_000022.11:g.(?_28687743)_(28687986_?)del	CHEK2	Likely pathogenic	22	29083731	29083974	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28710006)_(28719485_?)del	CHEK2	Pathogenic	22	29105994	29115473	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1376-1G>C	CHEK2	Likely pathogenic	22	29090106	29090106	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616311
Duplication	NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)	CHEK2	Pathogenic	22	29091792	29091793	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616331
single nucleotide variant	NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter)	CHEK2	Pathogenic	22	29107910	29107910	G	T	criteria provided, single submitter	ClinGen:CA16616334
Deletion	NM_007194.4(CHEK2):c.276del (p.Trp93fs)	CHEK2	Pathogenic	22	29130434	29130434	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616353
Deletion	NC_000022.11:g.(?_28687743)_(28725367_?)del	CHEK2	Pathogenic	22	29083731	29121355	na	na	criteria provided, single submitter	-
Duplication	NC_000022.10:g.(?_29099493)_(29099554_?)dup	CHEK2	Likely pathogenic	22	29099493	29099554	na	na	criteria provided, single submitter	-