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_000059.4(BRCA2):c.729dup (p.Asp244Ter)	BRCA2	Pathogenic	13	32905102	32905103	A	AT	reviewed by expert panel	ClinGen:CA10589046
Deletion	NM_000059.4(BRCA2):c.736_755del (p.Phe246fs)	BRCA2	Pathogenic	13	32905107	32905126	TAGATTTATCGCTTCTGTGAC	T	reviewed by expert panel	ClinGen:CA10589047
Deletion	NM_000059.4(BRCA2):c.739_740del (p.Ile247fs)	BRCA2	Pathogenic	13	32905112	32905113	TTA	T	reviewed by expert panel	ClinGen:CA10589048
Deletion	NM_000059.4(BRCA2):c.743del (p.Ala248fs)	BRCA2	Pathogenic	13	32905117	32905117	GC	G	reviewed by expert panel	ClinGen:CA10589049
Deletion	NM_000059.4(BRCA2):c.757_758del (p.Asp252_Ser253insTer)	BRCA2	Pathogenic	13	32905131	32905132	CAG	C	reviewed by expert panel	ClinGen:CA10589050
Indel	NM_000059.3(BRCA2):c.765_770delinsAAACAAT (p.Asn255fs)	BRCA2	Pathogenic	13	32905139	32905144	CACAAA	AAACAAT	reviewed by expert panel	ClinGen:CA10589051
Deletion	NM_000059.4(BRCA2):c.798del (p.Phe266fs)	BRCA2	Pathogenic	13	32906411	32906411	AT	A	reviewed by expert panel	ClinGen:CA10589052
Duplication	NM_000059.4(BRCA2):c.805dup (p.Thr269fs)	BRCA2	Pathogenic	13	32906415	32906416	G	GA	reviewed by expert panel	ClinGen:CA10589053
Duplication	NM_000059.4(BRCA2):c.831dup (p.Ser278Ter)	BRCA2	Pathogenic	13	32906445	32906446	A	AT	reviewed by expert panel	ClinGen:CA10589054
Deletion	NM_000059.4(BRCA2):c.842_843del (p.Asp281fs)	BRCA2	Pathogenic	13	32906457	32906458	GAC	G	reviewed by expert panel	ClinGen:CA10589055