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
single nucleotide variant	NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter)	BRCA1	Pathogenic	17	41243476	41243476	C	A	reviewed by expert panel	ClinGen:CA002602
Duplication	NM_007294.4(BRCA1):c.4348dup (p.Ser1450fs)	BRCA1	Pathogenic	17	41234429	41234430	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4467&base_change=ins T,ClinGen:CA002781
Deletion	NM_007294.4(BRCA1):c.4587_4590del (p.Ile1529fs)	BRCA1	Pathogenic	17	41226433	41226436	CCTTA	C	reviewed by expert panel	ClinGen:CA002917
single nucleotide variant	NM_007294.4(BRCA1):c.4986+5G>A	BRCA1	Pathogenic/Likely pathogenic	17	41222940	41222940	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+5&base_change=G to A,ClinGen:CA003124
single nucleotide variant	NM_007294.4(BRCA1):c.5193+1G>A	BRCA1	Pathogenic	17	41215349	41215349	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5312+1&base_change=G to A,ClinGen:CA003336
Insertion	NM_007294.4(BRCA1):c.5268_5269insC (p.Asp1757fs)	BRCA1	Pathogenic	17	41209077	41209078	C	CG	reviewed by expert panel	ClinGen:CA003411
Duplication	NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)	BRCA1	Pathogenic	17	41197807	41197808	A	ATC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5598&base_change=ins GA,ClinGen:CA003642
Deletion	NM_007294.4(BRCA1):c.882del (p.Asp295fs)	BRCA1	Pathogenic	17	41246666	41246666	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1001&base_change=del A,ClinGen:CA003945
Insertion	NM_007294.4(BRCA1):c.902_903insT (p.Lys301fs)	BRCA1	Pathogenic	17	41246645	41246646	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1021&base_change=ins T,ClinGen:CA003958
Insertion	NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs)	BRCA1	Pathogenic	17	41246563	41246564	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1103&base_change=ins C,ClinGen:CA003997