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.6494del (p.Leu2165fs)	BRCA2	Pathogenic	13	32914985	32914985	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6722&base_change=del T,ClinGen:CA024115
Deletion	NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)	BRCA2	Pathogenic	13	32915000	32915001	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6737&base_change=del AA,ClinGen:CA024123
Deletion	NM_000059.4(BRCA2):c.6527del (p.Asn2176fs)	BRCA2	Pathogenic	13	32915018	32915018	GA	G	reviewed by expert panel	ClinGen:CA024129
single nucleotide variant	NM_000059.4(BRCA2):c.652G>T (p.Glu218Ter)	BRCA2	Pathogenic	13	32903600	32903600	G	T	reviewed by expert panel	ClinGen:CA024134
Deletion	NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)	BRCA2	Pathogenic	13	32915020	32915023	ACATT	A	reviewed by expert panel	ClinGen:CA024136
single nucleotide variant	NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)	BRCA2	Pathogenic	13	32915039	32915039	G	T	reviewed by expert panel	ClinGen:CA024157
Deletion	NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)	BRCA2	Pathogenic	13	32915044	32915044	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6781&base_change=del G,ClinGen:CA024162
single nucleotide variant	NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter)	BRCA2	Pathogenic	13	32915049	32915049	C	A	reviewed by expert panel	ClinGen:CA024166
Deletion	NM_000059.4(BRCA2):c.6589del (p.Thr2197fs)	BRCA2	Pathogenic	13	32915078	32915078	TA	T	reviewed by expert panel	ClinGen:CA024192
Deletion	NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)	BRCA2	Pathogenic	13	32915089	32915090	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6828&base_change=del TT,ClinGen:CA024197