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	NC_000022.11:g.(?_28687743)_(28687986_?)del	CHEK2	Likely pathogenic	22	29083731	29083974	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687743)_(28725367_?)del	CHEK2	Pathogenic	22	29083731	29121355	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28696997_?)del	CHEK2	Pathogenic	22	29083875	29092985	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28719495_?)del	CHEK2	Pathogenic	22	29083875	29115483	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28687996_?)del	CHEK2	Likely pathogenic	22	29083875	29083984	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28710069_?)del	CHEK2	Pathogenic	22	29083875	29106057	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28734731_?)del	CHEK2	Pathogenic	22	29083875	29130719	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687891)_(28689221_?)del	CHEK2	Likely pathogenic	22	29083879	29085209	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687891)_(28734727_?)del	CHEK2	Pathogenic	22	29083879	29130715	na	na	criteria provided, single submitter	-
Insertion	NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)	CHEK2	Likely pathogenic	22	29083958	29083959	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581023