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.(6841+1_6842-1)_(7007+1_7008-1)del	BRCA2	Pathogenic	13	32915334	32928997	na	na	criteria provided, single submitter	LOVD 3:BRCA2_002466
single nucleotide variant	NM_000059.4(BRCA2):c.1A>G (p.Met1Val)	BRCA2	Pathogenic	13	32890598	32890598	A	G	criteria provided, single submitter	ClinGen:CA335967
Deletion	NM_000059.4(BRCA2):c.67+2del	BRCA2	Likely pathogenic	13	32890666	32890666	GT	G	criteria provided, single submitter	ClinGen:CA335821
Deletion	NM_000059.4(BRCA2):c.4176del (p.Ala1393fs)	BRCA2	Pathogenic	13	32912667	32912667	GT	G	reviewed by expert panel	ClinGen:CA335700
Deletion	NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)	BRCA2	Pathogenic	13	32913004	32913014	TGACCTTCCAGG	T	reviewed by expert panel	ClinGen:CA338948
Duplication	NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs)	BRCA2	Pathogenic	13	32913076	32913077	C	CG	reviewed by expert panel	ClinGen:CA335811
single nucleotide variant	NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)	BRCA2	Pathogenic	13	32914514	32914514	A	T	reviewed by expert panel	ClinGen:CA335857
single nucleotide variant	NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)	BRCA2	Pathogenic	13	32936726	32936726	T	G	reviewed by expert panel	ClinGen:CA339124
Deletion	NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)	BRCA2	Pathogenic	13	32936798	32936798	GC	G	reviewed by expert panel	ClinGen:CA336502
single nucleotide variant	NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)	BRCA2	Pathogenic	13	32937482	32937482	A	T	reviewed by expert panel	ClinGen:CA339029