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
Duplication	NM_007294.4(BRCA1):c.1846dup (p.Ser616fs)	BRCA1	Pathogenic	17	41245701	41245702	G	GA	reviewed by expert panel	ClinGen:CA327784
single nucleotide variant	NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)	BRCA1	Pathogenic	17	41245678	41245678	C	A	reviewed by expert panel	ClinGen:CA001216
Duplication	NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)	BRCA1	Pathogenic	17	41245670	41245671	T	TACTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1996&base_change=ins TAGT,ClinGen:CA001219
Deletion	NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)	BRCA1	Pathogenic	17	41245664	41245667	TACTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2000&base_change=del CAGT,ClinGen:CA001222
single nucleotide variant	NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)	BRCA1	Pathogenic	17	41258497	41258497	A	T	reviewed by expert panel	ClinGen:CA001227
Duplication	NM_007294.4(BRCA1):c.1892dup (p.Ser632fs)	BRCA1	Pathogenic	17	41245655	41245656	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2011&base_change=ins T,ClinGen:CA001230
Deletion	NM_007294.4(BRCA1):c.1898del (p.Pro633fs)	BRCA1	Pathogenic	17	41245650	41245650	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2017&base_change=del C,ClinGen:CA001239
Duplication	NM_007294.4(BRCA1):c.189dup (p.Cys64fs)	BRCA1	Pathogenic	17	41258495	41258496	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):308&base_change=ins A,ClinGen:CA001229
Deletion	NM_007294.4(BRCA1):c.1906del (p.Cys636fs)	BRCA1	Pathogenic	17	41245642	41245642	CA	C	reviewed by expert panel	ClinGen:CA001247
single nucleotide variant	NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	BRCA1	Pathogenic	17	41258495	41258495	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA001249