遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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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.2654del (p.Phe885fs)	BRCA1	Pathogenic	17	41244894	41244894	GA	G	reviewed by expert panel	ClinGen:CA001737
Duplication	NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)	BRCA1	Pathogenic	17	41244861	41244862	C	CT	reviewed by expert panel	ClinGen:CA001768
Deletion	NM_007294.4(BRCA1):c.2748del (p.Asn916fs)	BRCA1	Pathogenic	17	41244800	41244800	TA	T	reviewed by expert panel	ClinGen:CA001810
Deletion	NM_007294.4(BRCA1):c.2774del (p.Ile925fs)	BRCA1	Pathogenic	17	41244774	41244774	GA	G	reviewed by expert panel	ClinGen:CA001827
Duplication	NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)	BRCA1	Pathogenic	17	41244645	41244646	G	GGA	reviewed by expert panel	ClinGen:CA001889
Deletion	NM_007294.4(BRCA1):c.2940del (p.Pro981fs)	BRCA1	Pathogenic	17	41244608	41244608	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3059&base_change=del A,ClinGen:CA001921
Deletion	NM_007294.4(BRCA1):c.3204del (p.Gln1069fs)	BRCA1	Pathogenic	17	41244344	41244344	GA	G	reviewed by expert panel	ClinGen:CA002081
Deletion	NM_007294.4(BRCA1):c.3599_3600del (p.Gln1200fs)	BRCA1	Pathogenic	17	41243948	41243949	CCT	C	reviewed by expert panel	ClinGen:CA002297
Deletion	NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)	BRCA1	Pathogenic	17	41243876	41243876	AG	A	reviewed by expert panel	ClinGen:CA002352
Insertion	NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs)	BRCA1	Pathogenic	17	41243786	41243787	C	CAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3880&base_change=ins TT,ClinGen:CA002417