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.8948_8953+5del	BRCA2	Pathogenic	13	32953644	32953654	AAAGATTCAGGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165434
single nucleotide variant	NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33434036	33434036	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165449
Deletion	NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)	BRCA2	Pathogenic	13	32972417	32972420	GAGAA	G	reviewed by expert panel	ClinGen:CA026293
Deletion	NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)	BRCA2	Pathogenic	13	32915306	32915310	AAGAAG	A	reviewed by expert panel	ClinGen:CA024442
Deletion	NM_000059.4(BRCA2):c.1428_1431del (p.His477fs)	BRCA2	Pathogenic	13	32907043	32907046	CTCAT	C	reviewed by expert panel	ClinGen:CA012021
Deletion	NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)	BRCA1	Pathogenic	17	41203101	41203102	GGC	G	reviewed by expert panel	ClinGen:CA003463
Duplication	NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)	BRCA2	Pathogenic	13	32913849	32913850	G	GT	reviewed by expert panel	ClinGen:CA165826
Duplication	NM_000059.4(BRCA2):c.3411dup (p.Gln1138fs)	BRCA2	Pathogenic	13	32911902	32911903	T	TG	reviewed by expert panel	ClinGen:CA165831
Deletion	NM_000059.4(BRCA2):c.429del (p.Val144fs)	BRCA2	Pathogenic	13	32900241	32900241	CT	C	reviewed by expert panel	ClinGen:CA019934
Deletion	NM_058216.3(RAD51C):c.905-2_905-1del	RAD51C	Pathogenic/Likely pathogenic	17	56801399	56801400	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA166374