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.2185del (p.Glu729fs)	BRCA1	Pathogenic	17	41245363	41245363	TC	T	reviewed by expert panel	ClinGen:CA16620439
Deletion	NM_007294.4(BRCA1):c.1277del (p.Ser425_Ser426insTer)	BRCA1	Pathogenic	17	41246271	41246271	TG	T	reviewed by expert panel	ClinGen:CA16620441
Indel	NM_007294.4(BRCA1):c.891_896delinsTC (p.Met297fs)	BRCA1	Pathogenic	17	41246652	41246657	ACATTC	GA	reviewed by expert panel	ClinGen:CA16620442
Indel	NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)	BRCA1	Pathogenic	17	41256189	41256191	TGT	AGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620446
Duplication	NM_007294.4(BRCA1):c.310dup (p.Ser104fs)	BRCA1	Pathogenic	17	41256269	41256270	C	CT	reviewed by expert panel	ClinGen:CA16620447
Deletion	NM_058216.3(RAD51C):c.225del (p.Arg74_Tyr75insTer)	RAD51C	Pathogenic	17	56772371	56772371	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620490
single nucleotide variant	NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)	RAD51C	Pathogenic/Likely pathogenic	17	56772550	56772550	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620494
Deletion	NM_058216.3(RAD51C):c.774del (p.Thr259fs)	RAD51C	Pathogenic/Likely pathogenic	17	56787288	56787288	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677328
Duplication	NM_007294.4(BRCA1):c.1731dup (p.Ser578fs)	BRCA1	Pathogenic	17	41245816	41245817	A	AT	criteria provided, single submitter	ClinGen:CA16621908
single nucleotide variant	NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)	BRCA1	Pathogenic	17	41256204	41256204	G	A	reviewed by expert panel	ClinGen:CA10601391