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
single nucleotide variant	NM_000059.4(BRCA2):c.316+2T>C	BRCA2	Pathogenic	13	32893464	32893464	T	C	reviewed by expert panel	ClinGen:CA017370,Breast Cancer Information Core (BIC) (BRCA2):544+2&base_change=T to C
Deletion	NM_000059.4(BRCA2):c.316+4del	BRCA2	Pathogenic	13	32893465	32893465	TA	T	reviewed by expert panel	ClinGen:CA017376
single nucleotide variant	NM_000059.4(BRCA2):c.316+5G>A	BRCA2	Pathogenic	13	32893467	32893467	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):544+5&base_change=G to A,ClinGen:CA017381
single nucleotide variant	NM_000059.4(BRCA2):c.316+5G>C	BRCA2	Pathogenic	13	32893467	32893467	G	C	reviewed by expert panel	ClinGen:CA017387
single nucleotide variant	NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)	BRCA2	Pathogenic	13	32911658	32911658	C	T	reviewed by expert panel	ClinGen:CA017394
Deletion	NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)	BRCA2	Pathogenic	13	32911659	32911662	CAAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3395&base_change=del AAAA,ClinGen:CA017406
Deletion	NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)	BRCA2	Pathogenic	13	32911678	32911681	CTCAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3417&base_change=del GTCA,ClinGen:CA017491
Deletion	NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)	BRCA2	Pathogenic	13	32911684	32911687	CAATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3420&base_change=del AATT,Breast Cancer Information Core (BIC) (BRCA2):3423&base_change=del TAAT,ClinGen:CA017495
Deletion	NM_000059.4(BRCA2):c.3195del (p.Asn1066fs)	BRCA2	Pathogenic	13	32911686	32911686	AT	A	reviewed by expert panel	ClinGen:CA017514
Deletion	NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)	BRCA2	Pathogenic	13	32911691	32911691	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3427&base_change=del A,ClinGen:CA017526