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
Duplication	NM_007294.4(BRCA1):c.2359dup (p.Glu787fs)	BRCA1	Pathogenic	17	41245188	41245189	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2478&base_change=ins G,ClinGen:CA001577
Deletion	NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)	BRCA1	Pathogenic	17	41245158	41245159	TTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2508&base_change=del GA,ClinGen:CA001585
Deletion	NM_007294.4(BRCA1):c.2389del (p.Glu797fs)	BRCA1	Pathogenic	17	41245159	41245159	TC	T	reviewed by expert panel	ClinGen:CA001586
Deletion	NM_007294.4(BRCA1):c.2390_2391del (p.Glu797fs)	BRCA1	Pathogenic	17	41245157	41245158	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2509&base_change=del AA,ClinGen:CA001589
Deletion	NM_007294.4(BRCA1):c.2393del (p.Pro798fs)	BRCA1	Pathogenic	17	41245155	41245155	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2512&base_change=del C,ClinGen:CA001592
single nucleotide variant	NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter)	BRCA1	Pathogenic	17	41245145	41245145	A	T	reviewed by expert panel	ClinGen:CA001597
Deletion	NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs)	BRCA1	Pathogenic	17	41245139	41245142	GACTC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2525&base_change=del GAGT,ClinGen:CA001600
single nucleotide variant	NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter)	BRCA1	Pathogenic	17	41245138	41245138	G	A	reviewed by expert panel	ClinGen:CA001603
single nucleotide variant	NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)	BRCA1	Pathogenic	17	41256945	41256945	G	A	reviewed by expert panel	ClinGen:CA001613
Deletion	NM_007294.4(BRCA1):c.2429del (p.Asn810fs)	BRCA1	Pathogenic	17	41245119	41245119	GT	G	reviewed by expert panel	ClinGen:CA001622