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	NC_000013.11:g.(?_32316455)_(32357935_?)del	BRCA2	Pathogenic	13	32890592	32932072	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32944533)_(32945243_?)dup	BRCA2	Likely pathogenic	13	32944533	32945243	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32329437)_(32341202_?)del	BRCA2	Pathogenic	13	32903574	32915339	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32356422)_(32356615_?)del	BRCA2	Pathogenic	13	32930559	32930752	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32376664)_(32376797_?)del	BRCA2	Pathogenic	13	32950801	32950934	na	na	criteria provided, single submitter	-
Indel	NM_000059.3(BRCA2):c.533_539delinsGAC (p.Lys178fs)	BRCA2	Pathogenic	13	32900652	32900658	AACATAT	GAC	criteria provided, single submitter	ClinGen:CA658798103
single nucleotide variant	NM_000059.4(BRCA2):c.475+2T>A	BRCA2	Pathogenic	13	32900289	32900289	T	A	criteria provided, single submitter	ClinGen:CA387757263
Deletion	NM_000059.4(BRCA2):c.705del (p.His236fs)	BRCA2	Pathogenic	13	32905079	32905079	AT	A	criteria provided, single submitter	ClinGen:CA658798109
Deletion	NM_000059.4(BRCA2):c.2147del (p.Gln716fs)	BRCA2	Pathogenic	13	32910639	32910639	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798105
Duplication	NM_000059.4(BRCA2):c.1754dup (p.Lys586fs)	BRCA2	Pathogenic	13	32907364	32907365	G	GA	criteria provided, single submitter	ClinGen:CA658798085