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_000059.4(BRCA2):c.517-1G>A	BRCA2	Pathogenic	13	32900635	32900635	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021567,Breast Cancer Information Core (BIC) (BRCA2):745-1&base_change=G to A
single nucleotide variant	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Pathogenic	13	32900634	32900634	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):745-2&base_change=A to G,ClinGen:CA021578
Deletion	NM_000059.4(BRCA2):c.5171del (p.Ile1724fs)	BRCA2	Pathogenic	13	32913663	32913663	AT	A	reviewed by expert panel	ClinGen:CA021561
Deletion	NM_000059.4(BRCA2):c.5180del (p.Asn1727fs)	BRCA2	Pathogenic	13	32913669	32913669	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5408&base_change=del A,ClinGen:CA021614
Duplication	NM_000059.4(BRCA2):c.5180dup (p.Asn1727fs)	BRCA2	Pathogenic	13	32913668	32913669	G	GA	reviewed by expert panel	ClinGen:CA021610
Duplication	NM_000059.4(BRCA2):c.5197dup (p.Ser1733fs)	BRCA2	Pathogenic	13	32913688	32913689	C	CT	reviewed by expert panel	ClinGen:CA021659
Duplication	NM_000059.4(BRCA2):c.51dup (p.Arg18fs)	BRCA2	Pathogenic	13	32890647	32890648	C	CA	reviewed by expert panel	ClinGen:CA021397
Deletion	NM_000059.4(BRCA2):c.5207_5208del (p.Gln1736fs)	BRCA2	Pathogenic	13	32913699	32913700	CAA	C	reviewed by expert panel	ClinGen:CA021686
Deletion	NM_000059.4(BRCA2):c.5208del (p.Asp1737fs)	BRCA2	Pathogenic	13	32913699	32913699	CA	C	reviewed by expert panel	ClinGen:CA021689
single nucleotide variant	NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter)	BRCA2	Pathogenic	13	32913709	32913709	T	A	reviewed by expert panel	ClinGen:CA021745