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
single nucleotide variant	NM_000059.4(BRCA2):c.7007+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32921035	32921035	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7976+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32936831	32936831	G	T	criteria provided, multiple submitters, no conflicts	-
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	-
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	-
Insertion	NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245906	41245907	T	TC	criteria provided, multiple submitters, no conflicts	-
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.8941_8944del (p.Glu2981fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953637	32953640	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912092	32912092	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2295del (p.Ser766fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245253	41245253	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)	BRCA1	Pathogenic/Likely pathogenic	17	41226489	41226489	CT	C	criteria provided, multiple submitters, no conflicts	-