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.6990_6994del (p.Ile2330fs)	BRCA2	Pathogenic	13	32921015	32921019	ATTACC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7218&base_change=del TACCT,ClinGen:CA024671
Deletion	NM_000059.4(BRCA2):c.6996del (p.Cys2332fs)	BRCA2	Pathogenic	13	32921022	32921022	GT	G	reviewed by expert panel	ClinGen:CA024680
Deletion	NM_000059.4(BRCA2):c.7003_7007del (p.Phe2335fs)	BRCA2	Pathogenic	13	32921029	32921033	CTTTCG	C	reviewed by expert panel	ClinGen:CA024691,Breast Cancer Information Core (BIC) (BRCA2):7231&base_change=del TTTCG
single nucleotide variant	NM_000059.4(BRCA2):c.7007+1G>C	BRCA2	Pathogenic	13	32921034	32921034	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA024701
single nucleotide variant	NM_000059.4(BRCA2):c.7007+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32921034	32921034	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024704
single nucleotide variant	NM_000059.4(BRCA2):c.7007+5G>C	BRCA2	Likely pathogenic	13	32921038	32921038	G	C	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):7235+5&base_change=G to C,ClinGen:CA024710
single nucleotide variant	NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)	BRCA2	Pathogenic	13	32921033	32921033	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA024716
single nucleotide variant	NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)	BRCA2	Pathogenic/Likely pathogenic	13	32921033	32921033	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):7235&base_change=G to T,ClinGen:CA024720
single nucleotide variant	NM_000059.4(BRCA2):c.7008-2A>G	BRCA2	Pathogenic	13	32928996	32928996	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7236-2&base_change=A to G,ClinGen:CA024734
single nucleotide variant	NM_000059.4(BRCA2):c.7008-2A>T	BRCA2	Pathogenic	13	32928996	32928996	A	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7236-2&base_change=A to T,ClinGen:CA024737