遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1022del (p.Asn341fs)	CHEK2	Pathogenic	22	29092962	29092962	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.683+2T>C	CHEK2	Pathogenic/Likely pathogenic	22	29115381	29115381	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.621del (p.Asp207fs)	CHEK2	Pathogenic	22	29115445	29115445	CA	C	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.383del (p.Pro128fs)	CHEK2	Pathogenic	22	29121292	29121292	TG	T	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.161_164del (p.His54fs)	CHEK2	Pathogenic	22	29130546	29130549	GGAGT	G	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.118_133del (p.Ser40fs)	CHEK2	Pathogenic	22	29130577	29130592	GTGCTGGTAGAGGAGCT	G	criteria provided, single submitter	-
Duplication	NC_000022.10:g.(?_29105984)_(29115483_?)dup	CHEK2	Likely pathogenic	22	29105984	29115483	na	na	criteria provided, single submitter	-
Duplication	NC_000022.10:g.(?_29120955)_(29121365_?)dup	CHEK2	Likely pathogenic	22	29120955	29121365	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28724967)_(28734731_?)del	CHEK2	Pathogenic	22	29120955	29130719	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)	CHEK2	Pathogenic	22	29085200	29085200	C	A	criteria provided, multiple submitters, no conflicts	-