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
Indel	NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs)	RAD51C	Pathogenic	17	56772509	56772517	AGAAATTTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4485-2A>C	BRCA1	Likely pathogenic	17	41226540	41226540	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter)	BRCA1	Pathogenic	17	41228600	41228601	G	GTATTCAC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3033_3034del (p.Glu1013fs)	BRCA1	Pathogenic	17	41244514	41244515	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)	RAD51C	Pathogenic	17	56770035	56770035	C	T	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32316547_?)del	BRCA2	Pathogenic	13	32889617	32890684	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32325070)_(32325190_?)del	BRCA2	Pathogenic	13	32899207	32899327	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.476-1G>C	BRCA2	Pathogenic	13	32900378	32900378	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter)	BRCA2	Pathogenic	13	32912129	32912129	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7510_7513dup (p.Pro2505fs)	BRCA2	Pathogenic	13	32930636	32930637	G	GTCTT	criteria provided, multiple submitters, no conflicts	-