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.1327G>T (p.Glu443Ter)	BRCA2	Pathogenic	13	32906942	32906942	G	T	reviewed by expert panel	ClinGen:CA011622
Deletion	NM_000059.4(BRCA2):c.1335_1338del (p.Leu446fs)	BRCA2	Pathogenic	13	32906950	32906953	CTTTG	C	reviewed by expert panel	ClinGen:CA011655
single nucleotide variant	NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)	BRCA2	Pathogenic	13	32893279	32893279	G	T	reviewed by expert panel	ClinGen:CA011664
Deletion	NM_000059.4(BRCA2):c.1362del (p.Lys454fs)	BRCA2	Pathogenic	13	32906974	32906974	CA	C	reviewed by expert panel	ClinGen:CA011766
Deletion	NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)	BRCA2	Pathogenic	13	32907004	32907005	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1617&base_change=del AG,ClinGen:CA011849
Deletion	NM_000059.4(BRCA2):c.1389del (p.Val464fs)	BRCA2	Pathogenic	13	32907004	32907004	CA	C	reviewed by expert panel	ClinGen:CA011858
single nucleotide variant	NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)	BRCA2	Pathogenic	13	32907014	32907014	A	T	reviewed by expert panel	ClinGen:CA011908
single nucleotide variant	NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)	BRCA2	Pathogenic	13	32907026	32907026	G	T	reviewed by expert panel	ClinGen:CA011958
single nucleotide variant	NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)	BRCA2	Pathogenic	13	32907029	32907029	C	T	reviewed by expert panel	ClinGen:CA011969
single nucleotide variant	NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)	BRCA2	Pathogenic	13	32907038	32907038	G	T	reviewed by expert panel	ClinGen:CA012001