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
single nucleotide variant	NM_000059.4(BRCA2):c.2231C>A (p.Ser744Ter)	BRCA2	Pathogenic	13	32910723	32910723	C	A	reviewed by expert panel	ClinGen:CA10579530
Deletion	NM_000059.4(BRCA2):c.2256del (p.Gln754fs)	BRCA2	Pathogenic	13	32910748	32910748	AC	A	reviewed by expert panel	ClinGen:CA10579531
Deletion	NM_000059.4(BRCA2):c.2501del (p.Leu834fs)	BRCA2	Pathogenic	13	32910992	32910992	GT	G	reviewed by expert panel	ClinGen:CA10579537
Duplication	NM_000059.4(BRCA2):c.2611dup (p.Ser871fs)	BRCA2	Pathogenic	13	32911100	32911101	A	AT	reviewed by expert panel	ClinGen:CA10579541
Deletion	NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)	BRCA2	Pathogenic	13	32911114	32911115	CTG	C	reviewed by expert panel	ClinGen:CA10579542
single nucleotide variant	NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)	BRCA2	Pathogenic	13	32911133	32911133	G	T	reviewed by expert panel	ClinGen:CA10579544
single nucleotide variant	NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter)	BRCA2	Pathogenic	13	32911143	32911143	C	G	reviewed by expert panel	ClinGen:CA10579545
Duplication	NM_000059.4(BRCA2):c.2716dup (p.Thr906fs)	BRCA2	Pathogenic	13	32911207	32911208	T	TA	reviewed by expert panel	ClinGen:CA10579548
Duplication	NM_000059.4(BRCA2):c.2835dup (p.Asp946fs)	BRCA2	Pathogenic	13	32911321	32911322	T	TA	reviewed by expert panel	ClinGen:CA10579553
Deletion	NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)	BRCA2	Pathogenic	13	32911561	32911561	AC	A	reviewed by expert panel	ClinGen:CA10579562