遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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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.3570del (p.Lys1191fs)	BRCA2	Pathogenic	13	32912061	32912061	CG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3798&base_change=del G,ClinGen:CA018365
Deletion	NM_000059.4(BRCA2):c.3593del (p.Asn1198fs)	BRCA2	Pathogenic	13	32912081	32912081	GA	G	reviewed by expert panel	ClinGen:CA018383
Deletion	NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)	BRCA2	Pathogenic	13	32912090	32912091	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3826&base_change=del TG,Breast Cancer Information Core (BIC) (BRCA2):3827&base_change=del GT,ClinGen:CA018389
Duplication	NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs)	BRCA2	Pathogenic	13	32912132	32912133	G	GT	reviewed by expert panel	ClinGen:CA018449
Indel	NM_000059.4(BRCA2):c.3645_3646delinsTAAAAAG (p.Phe1216fs)	BRCA2	Pathogenic	13	32912137	32912138	GT	TAAAAAG	reviewed by expert panel	ClinGen:CA018463
Deletion	NM_000059.4(BRCA2):c.364del (p.Thr122fs)	BRCA2	Pathogenic	13	32899257	32899257	GA	G	reviewed by expert panel	ClinGen:CA018470
Deletion	NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)	BRCA2	Pathogenic	13	32912172	32912173	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3908&base_change=del TG,ClinGen:CA018546
Deletion	NM_000059.4(BRCA2):c.3682_3685del (p.Asn1228fs)	BRCA2	Pathogenic	13	32912172	32912175	CTGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3910&base_change=del AATG,ClinGen:CA018554
Deletion	NM_000059.4(BRCA2):c.3685del (p.Val1229fs)	BRCA2	Pathogenic	13	32912177	32912177	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3913&base_change=del G,ClinGen:CA018575
Deletion	NM_000059.4(BRCA2):c.36del (p.Phe12fs)	BRCA2	Pathogenic	13	32890628	32890628	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):264&base_change=del T,ClinGen:CA018602