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
Deletion	NM_000059.4(BRCA2):c.8546del (p.Lys2849fs)	BRCA2	Pathogenic	13	32945148	32945148	GA	G	reviewed by expert panel	ClinGen:CA025704
Deletion	NM_000059.4(BRCA2):c.8560del (p.Tyr2854fs)	BRCA2	Pathogenic	13	32945165	32945165	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8788&base_change=del T,ClinGen:CA025708
Duplication	NM_000059.4(BRCA2):c.8561dup (p.Tyr2854Ter)	BRCA2	Pathogenic	13	32945165	32945166	T	TA	reviewed by expert panel	ClinGen:CA025709
single nucleotide variant	NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)	BRCA2	Pathogenic	13	32945177	32945177	C	T	reviewed by expert panel	ClinGen:CA025716
single nucleotide variant	NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)	BRCA2	Pathogenic	13	32945180	32945180	C	T	reviewed by expert panel	ClinGen:CA025718
Deletion	NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)	BRCA2	Pathogenic	13	32945181	32945181	CA	C	reviewed by expert panel	ClinGen:CA025721
single nucleotide variant	NM_000059.4(BRCA2):c.8594T>A (p.Leu2865Ter)	BRCA2	Pathogenic	13	32945199	32945199	T	A	reviewed by expert panel	ClinGen:CA025729
Duplication	NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)	BRCA2	Pathogenic	13	32945197	32945198	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8821&base_change=ins T,ClinGen:CA025726
Duplication	NM_000059.4(BRCA2):c.8601dup (p.Lys2868Ter)	BRCA2	Pathogenic	13	32945205	32945206	C	CT	reviewed by expert panel	ClinGen:CA025731
single nucleotide variant	NM_000059.4(BRCA2):c.8620G>T (p.Glu2874Ter)	BRCA2	Pathogenic	13	32945225	32945225	G	T	reviewed by expert panel	ClinGen:CA025736