遺伝性乳がん・卵巣がん症候群

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_000059.4(BRCA2):c.8702del (p.Gly2901fs)	BRCA2	Pathogenic	13	32950875	32950875	TG	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35118491)_(35119623_?)del	RAD51D	Pathogenic	17	33445510	33446642	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35118495)_(35119619_?)del	RAD51D	Pathogenic	17	33445514	33446638	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43057032)_(43057155_?)del	BRCA1	Pathogenic	17	41209049	41209172	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58696687)_(58696865_?)del	RAD51C	Pathogenic	17	56774048	56774226	na	na	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3726dup (p.Arg1243Ter)	BRCA1	Pathogenic	17	41243821	41243822	T	TA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3161_3164dup (p.Ser1056fs)	BRCA1	Pathogenic	17	41244383	41244384	G	GCCCA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3135_3138del (p.Asn1045fs)	BRCA1	Pathogenic	17	41244410	41244413	CTTCA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.2643dup (p.Cys882fs)	BRCA1	Pathogenic	17	41244904	41244905	A	AT	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.283_286del (p.Leu95fs)	BRCA1	Pathogenic	17	41256900	41256903	TCAAG	T	criteria provided, multiple submitters, no conflicts	-