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_058216.3(RAD51C):c.705+1G>A	RAD51C	Likely pathogenic	17	56780691	56780691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580748
single nucleotide variant	NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)	RAD51C	Likely pathogenic	17	56809884	56809884	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677385
Deletion	NM_002878.3(RAD51D):c.739-?_*1161del	RAD51D	Likely pathogenic	17	33426811	33428384	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.263+2T>C	RAD51D	Likely pathogenic	17	33445518	33445518	A	G	criteria provided, single submitter	ClinGen:CA10583536
single nucleotide variant	NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)	BRCA1	Likely pathogenic	17	41209104	41209104	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583548
Indel	NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG	RAD51C	Likely pathogenic	17	56770151	56770156	TAACGA	CTAAG	criteria provided, single submitter	ClinGen:CA10583601
single nucleotide variant	NM_007294.4(BRCA1):c.4986+4A>G	BRCA1	Likely pathogenic	17	41222941	41222941	T	C	criteria provided, single submitter	ClinGen:CA10584550
single nucleotide variant	NM_058216.3(RAD51C):c.571+1G>T	RAD51C	Likely pathogenic	17	56774221	56774221	G	T	criteria provided, single submitter	ClinGen:CA10584581
single nucleotide variant	NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)	BRCA1	Likely pathogenic	17	41197774	41197774	A	C	criteria provided, single submitter	ClinGen:CA10586676
single nucleotide variant	NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)	BRCA1	Likely pathogenic	17	41215968	41215968	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586678