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.246dup (p.Glu83fs)	BRCA2	Pathogenic	13	32893389	32893390	C	CA	reviewed by expert panel	ClinGen:CA015364
single nucleotide variant	NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)	BRCA2	Pathogenic	13	32910963	32910963	T	G	reviewed by expert panel	ClinGen:CA015407
Deletion	NM_000059.4(BRCA2):c.2471_2476del (p.Leu824_Glu826delinsTer)	BRCA2	Pathogenic	13	32910963	32910968	TTAAATG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2699&base_change=del TAAATG,ClinGen:CA015387
single nucleotide variant	NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)	BRCA2	Pathogenic	13	32893396	32893396	C	T	reviewed by expert panel	ClinGen:CA015512
single nucleotide variant	NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)	BRCA2	Pathogenic	13	32911009	32911009	C	A	reviewed by expert panel	ClinGen:CA015526
single nucleotide variant	NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)	BRCA2	Pathogenic	13	32911029	32911029	C	G	reviewed by expert panel	ClinGen:CA015578
Deletion	NM_000059.4(BRCA2):c.2545del (p.Val849fs)	BRCA2	Pathogenic	13	32911036	32911036	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2773&base_change=del G,ClinGen:CA015601
Deletion	NM_000059.4(BRCA2):c.2586_2592del (p.Asn863fs)	BRCA2	Pathogenic	13	32911076	32911082	AAAAAATC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2812&base_change=del AAAAATC,Breast Cancer Information Core (BIC) (BRCA2):2814&base_change=del AAATCAA,ClinGen:CA015698
Deletion	NM_000059.4(BRCA2):c.2589del (p.Gln864fs)	BRCA2	Pathogenic	13	32911081	32911081	AT	A	reviewed by expert panel	ClinGen:CA015722
Deletion	NM_000059.4(BRCA2):c.2596_2599del (p.Glu866fs)	BRCA2	Pathogenic	13	32911086	32911089	GAAGA	G	reviewed by expert panel	ClinGen:CA015758