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_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	RAD51C	Pathogenic	17	56787223	56787223	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194618
Deletion	NM_000059.3(BRCA2):c.517-?_631+?del	BRCA2	Pathogenic	13	32900636	32900750	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)	BRCA2	Pathogenic	13	32913182	32913183	G	GC	reviewed by expert panel	ClinGen:CA020650
Deletion	NM_007294.3(BRCA1):c.5278-?_5467+?del	BRCA1	Pathogenic	17	41199660	41203134	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.3(BRCA1):c.4186-?_4357+?dup172	BRCA1	Pathogenic	17	41234421	41234592	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.1240dup (p.Asp414fs)	BRCA1	Pathogenic	17	41246307	41246308	T	TC	reviewed by expert panel	ClinGen:CA026485
Deletion	NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)	BRCA2	Pathogenic	13	32905147	32905148	CAA	C	reviewed by expert panel	ClinGen:CA025252
Deletion	NM_000059.4(BRCA2):c.6174del (p.Phe2058fs)	BRCA2	Pathogenic	13	32914664	32914664	AT	A	reviewed by expert panel	ClinGen:CA023718
Deletion	NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs)	BRCA2	Pathogenic	13	32915269	32915270	ATG	A	reviewed by expert panel	ClinGen:CA024404
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>A	BRCA2	Pathogenic	13	32928997	32928997	G	A	reviewed by expert panel	ClinGen:CA024727