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.1813dup (p.Ile605fs)	BRCA2	Pathogenic	13	32907428	32907428	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=ins A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=ins A,ClinGen:CA013353
Deletion	NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	BRCA2	Pathogenic	13	32907421	32907421	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=del A,ClinGen:CA013362
single nucleotide variant	NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)	BRCA2	Pathogenic	13	32907447	32907447	C	A	reviewed by expert panel	ClinGen:CA013511
single nucleotide variant	NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)	BRCA2	Pathogenic	13	32907465	32907465	C	A	reviewed by expert panel	ClinGen:CA013563
single nucleotide variant	NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)	BRCA2	Pathogenic	13	32907465	32907465	C	G	reviewed by expert panel	ClinGen:CA013573
Deletion	NM_000059.4(BRCA2):c.1929del (p.Arg645fs)	BRCA2	Pathogenic	13	32910421	32910421	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2157&base_change=del G,ClinGen:CA013940
single nucleotide variant	NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)	BRCA2	Pathogenic	13	32910462	32910462	T	A	reviewed by expert panel	ClinGen:CA014065
Deletion	NM_000059.4(BRCA2):c.2036del (p.Asn679fs)	BRCA2	Pathogenic	13	32910527	32910527	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2264&base_change=del A,ClinGen:CA014184
Deletion	NM_000059.4(BRCA2):c.2092del (p.Leu698fs)	BRCA2	Pathogenic	13	32910584	32910584	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2320&base_change=del C,ClinGen:CA014309
Duplication	NM_000059.4(BRCA2):c.2175dup (p.Val726fs)	BRCA2	Pathogenic	13	32910661	32910662	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2403&base_change=ins A,ClinGen:CA014516