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
single nucleotide variant	NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)	BRCA1	Pathogenic	17	41246536	41246536	T	A	reviewed by expert panel	ClinGen:CA000683
Duplication	NM_007294.4(BRCA1):c.1016dup (p.Val340fs)	BRCA1	Pathogenic	17	41246531	41246532	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1129&base_change=ins A,Breast Cancer Information Core (BIC) (BRCA1):1135&base_change=ins A,ClinGen:CA000681,OMIM:113705.0005,OMIM:113705.0027
Deletion	NM_007294.4(BRCA1):c.101del (p.Pro34fs)	BRCA1	Pathogenic	17	41267776	41267776	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):220&base_change=del C,ClinGen:CA000692
Deletion	NM_007294.4(BRCA1):c.1039_1040del (p.Leu347fs)	BRCA1	Pathogenic	17	41246508	41246509	CAG	C	reviewed by expert panel	ClinGen:CA356572
Deletion	NM_007294.4(BRCA1):c.1040del (p.Leu347fs)	BRCA1	Pathogenic	17	41246508	41246508	CA	C	reviewed by expert panel	ClinGen:CA000699
single nucleotide variant	NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter)	BRCA1	Pathogenic	17	41246503	41246503	C	A	reviewed by expert panel	ClinGen:CA000701
single nucleotide variant	NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)	BRCA1	Pathogenic	17	41246494	41246494	C	A	reviewed by expert panel	ClinGen:CA000702
single nucleotide variant	NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter)	BRCA1	Pathogenic	17	41246490	41246490	C	T	reviewed by expert panel	ClinGen:CA000704
single nucleotide variant	NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)	BRCA1	Pathogenic	17	41246489	41246489	C	T	reviewed by expert panel	ClinGen:CA000705
single nucleotide variant	NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter)	BRCA1	Pathogenic	17	41246485	41246485	T	A	reviewed by expert panel	ClinGen:CA000707