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	NG_005905.2:g.(168864_170280)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41201137	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(160933_166866)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41209068	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(154652_160848)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41215349	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NG_005905.2:g.(150290_154032)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41219711	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(147057_150288)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41222944	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(113863_118103)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41256138	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(102259_111450)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41267742	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(92714_93868)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41277287	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41277500	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5161_5164del (p.Asn1721fs)	BRCA2	Pathogenic	13	32913651	32913654	TCAAA	T	reviewed by expert panel	ClinGen:CA16044340