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.8403del (p.Pro2802fs)	BRCA2	Pathogenic	13	32944607	32944607	CT	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8729_8738del (p.Asn2910fs)	BRCA2	Pathogenic	13	32950900	32950909	AAGAATGCAGC	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.8805_8806dup (p.Leu2936fs)	BRCA2	Pathogenic	13	32953502	32953503	A	ATG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953637	32953640	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8967_8973del (p.Trp2990fs)	BRCA2	Pathogenic	13	32953899	32953905	ATTTGGCG	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9444del (p.Ser3149fs)	BRCA2	Pathogenic	13	32969013	32969013	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)	BRCA2	Pathogenic	13	32972317	32972317	G	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972322	32972322	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9772_9775del (p.Glu3258fs)	BRCA2	Pathogenic	13	32972421	32972424	AAGAG	A	criteria provided, single submitter	-
Deletion	NM_002878.4(RAD51D):c.854del (p.Gly285fs)	RAD51D	Likely pathogenic	17	33428269	33428269	TC	T	criteria provided, single submitter	-