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_007294.4(BRCA1):c.2273T>A (p.Leu758Ter)	BRCA1	Pathogenic	17	41245275	41245275	A	T	reviewed by expert panel	ClinGen:CA10597455
Deletion	NM_007294.4(BRCA1):c.2209del (p.Thr737fs)	BRCA1	Pathogenic	17	41245339	41245339	GT	G	reviewed by expert panel	ClinGen:CA16615369
Duplication	NM_007294.4(BRCA1):c.4996_4997dup (p.Lys1667fs)	BRCA1	Pathogenic	17	41219701	41219702	G	GTA	reviewed by expert panel	ClinGen:CA16615378
Indel	NM_007294.4(BRCA1):c.4064_4066delinsT (p.Asn1355fs)	BRCA1	Pathogenic	17	41243482	41243484	GAT	A	reviewed by expert panel	ClinGen:CA16615383
Deletion	NM_007294.4(BRCA1):c.885_888del (p.Asp295fs)	BRCA1	Pathogenic	17	41246660	41246663	TTCTG	T	reviewed by expert panel	ClinGen:CA16615392
Deletion	NM_007294.4(BRCA1):c.445del (p.Glu149fs)	BRCA1	Pathogenic	17	41251894	41251894	TC	T	reviewed by expert panel	ClinGen:CA16615436
single nucleotide variant	NM_058216.3(RAD51C):c.405-1G>A	RAD51C	Likely pathogenic	17	56774053	56774053	G	A	criteria provided, single submitter	ClinGen:CA16615461
Deletion	NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)	RAD51C	Pathogenic	17	56798118	56798121	CCAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615476
Deletion	NC_000017.11:g.(?_43044295)_(43057135_?)del	BRCA1	Pathogenic	17	41196312	41209152	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43082404)_(43124115_?)del	BRCA1	Pathogenic	17	41234421	41276132	na	na	criteria provided, single submitter	-