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.2457del (p.Asp821fs)	BRCA1	Pathogenic	17	41245091	41245091	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2576&base_change=del C,ClinGen:CA001638,OMIM:113705.0039
Deletion	NM_007294.4(BRCA1):c.2475del (p.Asp825fs)	BRCA1	Pathogenic	17	41245073	41245073	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2594&base_change=del C,ClinGen:CA001646
Deletion	NM_007294.4(BRCA1):c.2515del (p.His839fs)	BRCA1	Pathogenic	17	41245033	41245033	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2634&base_change=del C,ClinGen:CA001664
single nucleotide variant	NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)	BRCA1	Pathogenic	17	41244985	41244985	G	A	reviewed by expert panel	ClinGen:CA001689
single nucleotide variant	NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)	BRCA1	Pathogenic	17	41244945	41244945	G	C	reviewed by expert panel	ClinGen:CA001714
single nucleotide variant	NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)	BRCA1	Pathogenic	17	41244913	41244913	C	A	reviewed by expert panel	ClinGen:CA001729
single nucleotide variant	NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter)	BRCA1	Pathogenic	17	41244871	41244871	T	A	reviewed by expert panel	ClinGen:CA001754
Deletion	NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)	BRCA1	Pathogenic	17	41244866	41244869	GTTTC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2795&base_change=del AAAG,Breast Cancer Information Core (BIC) (BRCA1):2798&base_change=del GAAA,ClinGen:CA001756
Duplication	NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)	BRCA1	Pathogenic	17	41244840	41244841	C	CAT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2826&base_change=ins AT,ClinGen:CA001783
single nucleotide variant	NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)	BRCA1	Pathogenic	17	41244838	41244838	C	A	reviewed by expert panel	ClinGen:CA001786