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_007294.4(BRCA1):c.3763_3764del (p.Asn1255fs)	BRCA1	Pathogenic	17	41243784	41243785	GTT	G	reviewed by expert panel	ClinGen:CA002419
Deletion	NM_007294.4(BRCA1):c.3771_3778del (p.Glu1257fs)	BRCA1	Pathogenic	17	41243770	41243777	AAATTCTCC	A	reviewed by expert panel	ClinGen:CA002427
single nucleotide variant	NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter)	BRCA1	Pathogenic	17	41243776	41243776	C	A	reviewed by expert panel	ClinGen:CA002429
Deletion	NM_007294.4(BRCA1):c.3779del (p.Leu1260fs)	BRCA1	Pathogenic	17	41243769	41243769	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3896&base_change=del T,ClinGen:CA002434
single nucleotide variant	NM_007294.4(BRCA1):c.3782T>G (p.Leu1261Ter)	BRCA1	Pathogenic	17	41243766	41243766	A	C	reviewed by expert panel	ClinGen:CA002437
Deletion	NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)	BRCA1	Pathogenic	17	41243766	41243766	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3901&base_change=del T,ClinGen:CA002435
single nucleotide variant	NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter)	BRCA1	Pathogenic	17	41243763	41243763	G	T	reviewed by expert panel	ClinGen:CA002440
Deletion	NM_007294.4(BRCA1):c.3794del (p.Asn1265fs)	BRCA1	Pathogenic	17	41243754	41243754	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3913&base_change=del A,ClinGen:CA002444
Deletion	NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)	BRCA1	Pathogenic	17	41276074	41276077	ACATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):156&base_change=del AATG,ClinGen:CA002398
Duplication	NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter)	BRCA1	Pathogenic	17	41243734	41243735	T	TA	reviewed by expert panel	ClinGen:CA327899