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.2731del (p.Glu911fs)	BRCA2	Pathogenic	13	32911223	32911223	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2959&base_change=del G,ClinGen:CA016174
single nucleotide variant	NM_000059.4(BRCA2):c.273C>A (p.Tyr91Ter)	BRCA2	Pathogenic	13	32893419	32893419	C	A	reviewed by expert panel	ClinGen:CA016201
single nucleotide variant	NM_000059.4(BRCA2):c.273C>G (p.Tyr91Ter)	BRCA2	Pathogenic	13	32893419	32893419	C	G	reviewed by expert panel	ClinGen:CA016209
single nucleotide variant	NM_000059.4(BRCA2):c.2748T>A (p.Cys916Ter)	BRCA2	Pathogenic	13	32911240	32911240	T	A	reviewed by expert panel	ClinGen:CA016242
Deletion	NM_000059.4(BRCA2):c.2760del (p.Ile921fs)	BRCA2	Pathogenic	13	32911250	32911250	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2988&base_change=del C,ClinGen:CA016290
Duplication	NM_000059.4(BRCA2):c.2765dup (p.Lys923fs)	BRCA2	Pathogenic	13	32911253	32911254	A	AT	reviewed by expert panel	ClinGen:CA016303
Duplication	NM_000059.4(BRCA2):c.276dup (p.Ser93fs)	BRCA2	Pathogenic	13	32893420	32893421	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):504&base_change=ins A,ClinGen:CA016296
Duplication	NM_000059.4(BRCA2):c.2773dup (p.Ser925fs)	BRCA2	Pathogenic	13	32911264	32911265	C	CT	reviewed by expert panel	ClinGen:CA016320
Deletion	NM_000059.4(BRCA2):c.2786del (p.Leu929fs)	BRCA2	Pathogenic	13	32911275	32911275	GT	G	reviewed by expert panel	ClinGen:CA016352
Duplication	NM_000059.4(BRCA2):c.2786dup (p.Leu929fs)	BRCA2	Pathogenic	13	32911274	32911275	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3014&base_change=ins T,ClinGen:CA016347