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_000059.4(BRCA2):c.7191dup (p.Thr2398fs)	BRCA2	Pathogenic	13	32929179	32929180	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8488-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32945091	32945091	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4568del (p.Pro1523fs)	BRCA1	Likely pathogenic	17	41226455	41226455	TG	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4152_4153del (p.Leu1385fs)	BRCA1	Pathogenic	17	41242993	41242994	AGC	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3068del (p.Val1023fs)	BRCA1	Pathogenic	17	41244480	41244480	CA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)	BRCA1	Pathogenic	17	41245585	41245586	A	AC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.1383dup (p.Gly462fs)	BRCA1	Pathogenic	17	41246164	41246165	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.837+2T>C	RAD51C	Likely pathogenic	17	56787353	56787353	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.1000del (p.Glu334fs)	RAD51C	Likely pathogenic	17	56809878	56809878	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.5130T>G (p.Tyr1710Ter)	BRCA2	Pathogenic	13	32913622	32913622	T	G	criteria provided, single submitter	-