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.1855C>T (p.Gln619Ter)	BRCA2	Pathogenic	13	32907470	32907470	C	T	reviewed by expert panel	ClinGen:CA013627
Duplication	NM_000059.4(BRCA2):c.1855dup (p.Gln619fs)	BRCA2	Pathogenic	13	32907467	32907468	G	GC	reviewed by expert panel	ClinGen:CA013623
Deletion	NM_000059.4(BRCA2):c.1881del (p.Pro628fs)	BRCA2	Pathogenic	13	32907496	32907496	CA	C	reviewed by expert panel	ClinGen:CA013713
Duplication	NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)	BRCA2	Pathogenic	13	32907502	32907503	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2116&base_change=ins%20A,ClinGen:CA013728
Deletion	NM_000059.4(BRCA2):c.1889del (p.Thr630fs)	BRCA2	Pathogenic	13	32907504	32907504	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2117&base_change=del C,ClinGen:CA013753
Insertion	NM_000059.4(BRCA2):c.1899_1900insTT (p.Ala634fs)	BRCA2	Pathogenic	13	32907513	32907514	A	ATT	reviewed by expert panel	ClinGen:CA013763
Deletion	NM_000059.4(BRCA2):c.1901del (p.Ala634fs)	BRCA2	Pathogenic	13	32907516	32907516	GC	G	reviewed by expert panel	ClinGen:CA013780
Deletion	NM_000059.4(BRCA2):c.1933del (p.Arg645fs)	BRCA2	Pathogenic	13	32910422	32910422	GA	G	reviewed by expert panel	ClinGen:CA013952
single nucleotide variant	NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)	BRCA2	Pathogenic	13	32893342	32893342	C	T	reviewed by expert panel	ClinGen:CA014053
Deletion	NM_000059.4(BRCA2):c.2026del (p.Cys676fs)	BRCA2	Pathogenic	13	32910518	32910518	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2254&base_change=del T,ClinGen:CA014155