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.5315del (p.Phe1772fs)	BRCA1	Pathogenic	17	41203097	41203097	GA	G	reviewed by expert panel	ClinGen:CA003469
Duplication	NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)	BRCA1	Pathogenic	17	41203092	41203093	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5438&base_change=ins C,ClinGen:CA003472,OMIM:113705.0021
Deletion	NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)	BRCA1	Pathogenic	17	41203091	41203092	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5439&base_change=del AA,ClinGen:CA003473
Deletion	NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs)	BRCA1	Pathogenic	17	41203088	41203089	CAT	C	reviewed by expert panel	ClinGen:CA003475
Duplication	NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)	BRCA1	Pathogenic	17	41203083	41203084	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5447&base_change=ins C,ClinGen:CA268388
single nucleotide variant	NM_007294.4(BRCA1):c.5332+1G>A	BRCA1	Pathogenic	17	41203079	41203079	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5451+1&base_change=G to A,ClinGen:CA003484
single nucleotide variant	NM_007294.4(BRCA1):c.5332+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41203079	41203079	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003485
single nucleotide variant	NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)	BRCA1	Pathogenic/Likely pathogenic	17	41203080	41203080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003491
single nucleotide variant	NM_007294.4(BRCA1):c.5333-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41201212	41201212	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003494
single nucleotide variant	NM_007294.4(BRCA1):c.5333-1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41201212	41201212	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5452-1&base_change=G to C,ClinGen:CA003496