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.5525del (p.Pro1842fs)	BRCA2	Pathogenic	13	32914016	32914016	AC	A	criteria provided, single submitter	-
Indel	NM_000059.3(BRCA2):c.5998delinsCG (p.Phe2000fs)	BRCA2	Pathogenic	13	32914490	32914490	T	CG	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.6777_6778insA (p.Glu2260fs)	BRCA2	Pathogenic	13	32915269	32915270	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6993_7007+7del	BRCA2	Pathogenic	13	32921017	32921038	TACCTGTGTACCCTTTCGGTAAG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7435+2T>A	BRCA2	Likely pathogenic	13	32929427	32929427	T	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8147del (p.Val2716fs)	BRCA2	Pathogenic	13	32937486	32937486	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8755-2A>C	BRCA2	Likely pathogenic	13	32953452	32953452	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32316455)_(32326288_?)del	BRCA2	Pathogenic	13	32890592	32900425	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32356408)_(32356629_?)del	BRCA2	Pathogenic	13	32930545	32930766	na	na	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.897dup (p.Val300fs)	BRCA2	Pathogenic	13	32906510	32906511	G	GT	criteria provided, single submitter	-