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.2314del (p.Val772fs)	BRCA1	Pathogenic	17	41245234	41245234	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2433&base_change=del G,ClinGen:CA001544
Deletion	NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)	BRCA1	Pathogenic	17	41245219	41245219	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2448&base_change=del T,ClinGen:CA001553
Deletion	NM_007294.4(BRCA1):c.232del (p.Arg78fs)	BRCA1	Pathogenic	17	41256954	41256954	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):351&base_change=del A,ClinGen:CA001555
single nucleotide variant	NM_007294.4(BRCA1):c.2331T>A (p.Tyr777Ter)	BRCA1	Pathogenic	17	41245217	41245217	A	T	reviewed by expert panel	ClinGen:CA001557
single nucleotide variant	NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)	BRCA1	Pathogenic	17	41245210	41245210	G	A	reviewed by expert panel	ClinGen:CA001563
Deletion	NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs)	BRCA1	Pathogenic	17	41245191	41245197	CAGTAACG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2470&base_change=del CGTTACT,ClinGen:CA001568
single nucleotide variant	NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter)	BRCA1	Pathogenic	17	41245194	41245194	A	T	reviewed by expert panel	ClinGen:CA001571
Deletion	NM_007294.4(BRCA1):c.2356del (p.Leu786fs)	BRCA1	Pathogenic	17	41245192	41245192	AG	A	reviewed by expert panel	ClinGen:CA001575
Deletion	NM_007294.4(BRCA1):c.2357del (p.Leu786fs)	BRCA1	Pathogenic	17	41245191	41245191	CA	C	reviewed by expert panel	ClinGen:CA001576
Deletion	NM_007294.4(BRCA1):c.2359del (p.Glu787fs)	BRCA1	Pathogenic	17	41245189	41245189	TC	T	reviewed by expert panel	ClinGen:CA001578