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.314T>A (p.Leu105Ter)	BRCA2	Pathogenic	13	32893460	32893460	T	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.712dup (p.Glu238fs)	BRCA2	Pathogenic	13	32905085	32905086	T	TG	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.919_922dup (p.Phe308Ter)	BRCA2	Pathogenic	13	32906532	32906533	A	ATAGT	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.1384G>T (p.Glu462Ter)	BRCA2	Pathogenic	13	32906999	32906999	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1539del (p.Glu514fs)	BRCA2	Pathogenic	13	32907152	32907152	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1550del (p.Asn517fs)	BRCA2	Pathogenic	13	32907164	32907164	CA	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1786_1795del (p.Asp596fs)	BRCA2	Pathogenic	13	32907397	32907406	TACATGATGAA	T	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.1958_1964delinsTG (p.Glu653fs)	BRCA2	Pathogenic	13	32910450	32910456	AAGAACC	TG	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.2205del (p.Ala736fs)	BRCA2	Pathogenic	13	32910697	32910697	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter)	BRCA2	Pathogenic	13	32911004	32911004	A	T	criteria provided, multiple submitters, no conflicts	-