遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_007294.4(BRCA1):c.931_934dup (p.Gly312fs)	BRCA1	Pathogenic	17	41246613	41246614	C	CCAGG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.513dup (p.Gln172fs)	BRCA1	Pathogenic	17	41251825	41251826	G	GT	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.500_503del (p.Thr167fs)	BRCA1	Pathogenic	17	41251836	41251839	CTTTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41258546	41258546	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)	BRCA1	Likely pathogenic	17	41267745	41267745	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp)	BRCA1	Pathogenic	17	41276042	41276042	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)	RAD51C	Pathogenic	17	56770055	56770056	TCC	T	criteria provided, single submitter	-
Indel	NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)	RAD51C	Pathogenic	17	56774096	56774097	AG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32315480)_(32371120_?)del	BRCA2	Pathogenic	13	32889617	32945257	na	na	criteria provided, single submitter	-