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
Insertion	NM_000059.4(BRCA2):c.6032_6033insGT (p.Phe2011fs)	BRCA2	Pathogenic	13	32914523	32914524	T	TTG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6144_6145insA (p.Val2049fs)	BRCA2	Pathogenic	13	32914636	32914637	T	TA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.6164dup (p.Ser2056fs)	BRCA2	Pathogenic	13	32914653	32914654	C	CT	reviewed by expert panel	ClinGen:CA645372977
Insertion	NM_000059.4(BRCA2):c.6272_6273insA (p.Ser2091fs)	BRCA2	Pathogenic	13	32914764	32914765	G	GA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6419_6420insA (p.Gly2141fs)	BRCA2	Pathogenic	13	32914911	32914912	G	GA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6534_6535insA (p.Val2179fs)	BRCA2	Pathogenic	13	32915026	32915027	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6662_6663insAAAG (p.Asn2221fs)	BRCA2	Pathogenic	13	32915154	32915155	A	AAAAG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.6723dup (p.Asp2242fs)	BRCA2	Pathogenic	13	32915214	32915215	C	CA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6947_6948insTT (p.Lys2316fs)	BRCA2	Pathogenic	13	32920973	32920974	A	ATT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7023_7024insTG (p.Gln2342fs)	BRCA2	Pathogenic	13	32929013	32929014	T	TTG	reviewed by expert panel	-