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.7680dup (p.Gln2561fs)	BRCA2	Pathogenic	13	32931937	32931938	C	CT	reviewed by expert panel	ClinGen:CA025225
single nucleotide variant	NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)	BRCA2	Pathogenic	13	32931942	32931942	C	T	reviewed by expert panel	ClinGen:CA025228
Insertion	NM_000059.4(BRCA2):c.7681_7682insT (p.Gln2561fs)	BRCA2	Pathogenic	13	32931942	32931943	C	CT	reviewed by expert panel	ClinGen:CA025227
Deletion	NM_000059.4(BRCA2):c.7689del (p.His2563fs)	BRCA2	Pathogenic	13	32931950	32931950	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7917&base_change=del C,ClinGen:CA025233
Duplication	NM_000059.4(BRCA2):c.7697dup (p.Asp2566fs)	BRCA2	Pathogenic	13	32931957	32931958	G	GA	reviewed by expert panel	ClinGen:CA025236
Deletion	NM_000059.4(BRCA2):c.7707del (p.Lys2570fs)	BRCA2	Pathogenic	13	32931968	32931968	GT	G	reviewed by expert panel	ClinGen:CA025239
single nucleotide variant	NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)	BRCA2	Pathogenic	13	32931982	32931982	G	A	reviewed by expert panel	ClinGen:CA025247
single nucleotide variant	NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)	BRCA2	Pathogenic	13	32905146	32905146	C	T	reviewed by expert panel	ClinGen:CA025248
single nucleotide variant	NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)	BRCA2	Pathogenic	13	32931999	32931999	C	T	reviewed by expert panel	ClinGen:CA025250
Deletion	NM_000059.4(BRCA2):c.7751del (p.Gly2584fs)	BRCA2	Pathogenic	13	32932011	32932011	TG	T	reviewed by expert panel	ClinGen:CA025255