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.6879del (p.Phe2293fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918730	32918730	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602530
Duplication	NM_000059.4(BRCA2):c.6899_6906dup (p.Ser2303fs)	BRCA2	Pathogenic	13	32918751	32918752	C	CAAGAAAAA	criteria provided, single submitter	ClinGen:CA6941013
single nucleotide variant	NM_000059.4(BRCA2):c.6901G>T (p.Glu2301Ter)	BRCA2	Pathogenic	13	32918754	32918754	G	T	criteria provided, single submitter	ClinGen:CA10602532
single nucleotide variant	NM_000059.4(BRCA2):c.6938-2A>C	BRCA2	Pathogenic	13	32920962	32920962	A	C	criteria provided, single submitter	ClinGen:CA10602534
single nucleotide variant	NM_000059.4(BRCA2):c.6938-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32920963	32920963	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602535
single nucleotide variant	NM_000059.4(BRCA2):c.7007+2T>A	BRCA2	Pathogenic	13	32921035	32921035	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602536
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>T	BRCA2	Pathogenic	13	32928997	32928997	G	T	criteria provided, single submitter	ClinGen:CA10602537
Insertion	NM_000059.3:c.7338_7339ins4	BRCA2	Pathogenic	13	32929328	32929329	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7435+1G>C	BRCA2	Pathogenic	13	32929426	32929426	G	C	criteria provided, single submitter	ClinGen:CA6941091
single nucleotide variant	NM_000059.4(BRCA2):c.7436-2A>G	BRCA2	Pathogenic	13	32930563	32930563	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602538