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
Duplication	NM_000059.4(BRCA2):c.610_613dup (p.Ser205delinsThrTer)	BRCA2	Pathogenic	13	32900728	32900729	C	CCTTA	reviewed by expert panel	ClinGen:CA023689
Deletion	NM_000059.4(BRCA2):c.610del (p.Ser205fs)	BRCA2	Pathogenic	13	32900727	32900727	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):838&base_change=del C,ClinGen:CA023661
single nucleotide variant	NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)	BRCA2	Pathogenic	13	32914616	32914616	C	T	reviewed by expert panel	ClinGen:CA023676
Duplication	NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs)	BRCA2	Pathogenic	13	32914616	32914617	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6357&base_change=ins A,ClinGen:CA023682
Deletion	NM_000059.4(BRCA2):c.6154del (p.Ser2052fs)	BRCA2	Pathogenic	13	32914645	32914645	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6382&base_change=del T,ClinGen:CA023702
Deletion	NM_000059.4(BRCA2):c.6164del (p.Phe2055fs)	BRCA2	Pathogenic	13	32914654	32914654	CT	C	reviewed by expert panel	ClinGen:CA023710
single nucleotide variant	NM_000059.4(BRCA2):c.6169G>T (p.Gly2057Ter)	BRCA2	Pathogenic	13	32914661	32914661	G	T	reviewed by expert panel	ClinGen:CA023712
Deletion	NM_000059.4(BRCA2):c.6178del (p.Thr2060fs)	BRCA2	Pathogenic	13	32914670	32914670	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6406&base_change=del A,ClinGen:CA023722
Deletion	NM_000059.4(BRCA2):c.6198_6199del (p.Ser2067fs)	BRCA2	Pathogenic	13	32914689	32914690	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6426&base_change=del TT,ClinGen:CA023731
Deletion	NM_000059.4(BRCA2):c.6201del (p.Ile2068fs)	BRCA2	Pathogenic	13	32914692	32914692	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6429&base_change=del C,ClinGen:CA023737