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.1908_1911del (p.Cys636fs)	BRCA1	Pathogenic	17	41245637	41245640	CAGTA	C	reviewed by expert panel	ClinGen:CA10589910
Deletion	NM_007294.4(BRCA1):c.1905_1909del (p.Asn635_Cys636insTer)	BRCA1	Pathogenic	17	41245639	41245643	GTACAA	G	reviewed by expert panel	ClinGen:CA10589911
Duplication	NM_007294.4(BRCA1):c.1887_1900dup (p.Pro634delinsGlnIleTer)	BRCA1	Pathogenic	17	41245647	41245648	G	GGTGGGCTTAGATTT	reviewed by expert panel	ClinGen:CA10589912
Deletion	NM_007294.4(BRCA1):c.1885del (p.Arg629fs)	BRCA1	Pathogenic	17	41245663	41245663	CT	C	reviewed by expert panel	ClinGen:CA10589913
Insertion	NM_007294.4(BRCA1):c.1878_1879insTAGT (p.Val627Ter)	BRCA1	Pathogenic	17	41245669	41245670	C	CACTA	reviewed by expert panel	ClinGen:CA10589914
Deletion	NM_007294.4(BRCA1):c.1847del (p.Ser616fs)	BRCA1	Pathogenic	17	41245701	41245701	AG	A	reviewed by expert panel	ClinGen:CA10589915
Insertion	NM_007294.4(BRCA1):c.1844_1845insG (p.Ser616fs)	BRCA1	Pathogenic	17	41245703	41245704	A	AC	reviewed by expert panel	ClinGen:CA10589916
Deletion	NM_007294.4(BRCA1):c.1820_1823del (p.Lys607fs)	BRCA1	Pathogenic	17	41245725	41245728	CTTTT	C	reviewed by expert panel	ClinGen:CA10589917
Deletion	NM_007294.4(BRCA1):c.1803del (p.His601fs)	BRCA1	Pathogenic	17	41245745	41245745	TG	T	reviewed by expert panel	ClinGen:CA10589918
Deletion	NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs)	BRCA1	Pathogenic	17	41245750	41245753	ATATT	A	reviewed by expert panel	ClinGen:CA10589919