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_007294.4(BRCA1):c.1649del (p.Asn550fs)	BRCA1	Pathogenic	17	41245899	41245899	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1768&base_change=del A,ClinGen:CA001091
single nucleotide variant	NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter)	BRCA1	Pathogenic	17	41245888	41245888	C	A	reviewed by expert panel	ClinGen:CA001096
Deletion	NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs)	BRCA1	Pathogenic	17	41245874	41245875	CTT	C	reviewed by expert panel	ClinGen:CA001102
Deletion	NM_007294.4(BRCA1):c.1700del (p.Asn567fs)	BRCA1	Pathogenic	17	41245848	41245848	AT	A	reviewed by expert panel	ClinGen:CA001113
Deletion	NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)	BRCA1	Pathogenic	17	41245831	41245835	GATTCT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1832&base_change=del AGAAT,ClinGen:CA001122
Deletion	NM_007294.4(BRCA1):c.1716del (p.Glu572fs)	BRCA1	Pathogenic	17	41245832	41245832	AT	A	reviewed by expert panel	ClinGen:CA001125
Duplication	NM_007294.4(BRCA1):c.1716dup (p.Ser573fs)	BRCA1	Pathogenic	17	41245831	41245832	A	AT	reviewed by expert panel	ClinGen:CA327771
single nucleotide variant	NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)	BRCA1	Pathogenic	17	41245819	41245819	C	A	reviewed by expert panel	ClinGen:CA001133
Deletion	NM_007294.4(BRCA1):c.1729_1730del (p.Glu577fs)	BRCA1	Pathogenic	17	41245818	41245819	TTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1848&base_change=del GA,ClinGen:CA001132
single nucleotide variant	NM_007294.4(BRCA1):c.1741A>T (p.Lys581Ter)	BRCA1	Pathogenic	17	41245807	41245807	T	A	reviewed by expert panel	ClinGen:CA001139