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_000059.4(BRCA2):c.9295_9301del (p.Asn3099fs)	BRCA2	Pathogenic	13	32968860	32968866	GTTACAAT	G	reviewed by expert panel	ClinGen:CA10586596
Deletion	NM_000059.4(BRCA2):c.9366_9367del (p.Ser3123fs)	BRCA2	Pathogenic	13	32968935	32968936	CAA	C	reviewed by expert panel	ClinGen:CA10586597
Deletion	NM_000059.4(BRCA2):c.9429_9430del (p.Ser3144fs)	BRCA2	Pathogenic	13	32968995	32968996	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9654&base_change=del TT,ClinGen:CA026150
Duplication	NM_000059.4(BRCA2):c.9674dup (p.Tyr3225Ter)	BRCA2	Pathogenic	13	32972323	32972324	T	TA	reviewed by expert panel	ClinGen:CA10586598
Deletion	NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)	BRCA2	Pathogenic	13	32972337	32972337	CT	C	reviewed by expert panel	ClinGen:CA6941439
Duplication	NM_007294.4(BRCA1):c.5485dup (p.Glu1829fs)	BRCA1	Pathogenic	17	41197801	41197802	T	TC	reviewed by expert panel	ClinGen:CA8589943
Deletion	NM_007294.4(BRCA1):c.5391del (p.Phe1798fs)	BRCA1	Pathogenic	17	41201153	41201153	AT	A	reviewed by expert panel	ClinGen:CA054811
Deletion	NM_007294.4(BRCA1):c.5366del (p.Ala1789fs)	BRCA1	Pathogenic	17	41201178	41201178	AG	A	reviewed by expert panel	ClinGen:CA054762
Deletion	NM_007294.4(BRCA1):c.5338del (p.Leu1780fs)	BRCA1	Pathogenic	17	41201206	41201206	AG	A	reviewed by expert panel	ClinGen:CA10586600
Deletion	NM_007294.4(BRCA1):c.5276del (p.Lys1759fs)	BRCA1	Pathogenic	17	41209070	41209070	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5393&base_change=del A,ClinGen:CA003415