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.6267_6274del (p.Glu2089fs)	BRCA2	Pathogenic	13	32914759	32914766	AGCATAGTC	A	reviewed by expert panel	ClinGen:CA10579686
Duplication	NM_000059.4(BRCA2):c.6332dup (p.Arg2112fs)	BRCA2	Pathogenic	13	32914822	32914823	T	TA	reviewed by expert panel	ClinGen:CA10579689
single nucleotide variant	NM_000059.4(BRCA2):c.6351T>A (p.Cys2117Ter)	BRCA2	Pathogenic	13	32914843	32914843	T	A	reviewed by expert panel	ClinGen:CA10579691
Deletion	NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs)	BRCA2	Pathogenic	13	32914938	32914939	ATT	A	reviewed by expert panel	ClinGen:CA10579695
Deletion	NM_000059.4(BRCA2):c.6567_6573del (p.Asn2189fs)	BRCA2	Pathogenic	13	32915055	32915061	AAAAACGT	A	reviewed by expert panel	ClinGen:CA10579702
Deletion	NM_000059.4(BRCA2):c.6596del (p.Thr2199fs)	BRCA2	Pathogenic	13	32915088	32915088	AC	A	reviewed by expert panel	ClinGen:CA10579704
Duplication	NM_000059.4(BRCA2):c.6699_6702dup (p.Met2235fs)	BRCA2	Pathogenic	13	32915190	32915191	C	CTTTT	reviewed by expert panel	ClinGen:CA10579705
single nucleotide variant	NM_000059.4(BRCA2):c.6781G>T (p.Glu2261Ter)	BRCA2	Pathogenic	13	32915273	32915273	G	T	reviewed by expert panel	ClinGen:CA10579711
Duplication	NM_000059.4(BRCA2):c.6990dup (p.Thr2331fs)	BRCA2	Pathogenic	13	32921014	32921015	A	AT	reviewed by expert panel	ClinGen:CA10579717
Indel	NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)	BRCA2	Pathogenic	13	32929199	32929202	CAAA	GG	reviewed by expert panel	ClinGen:CA10579727