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.5332+2T>G	BRCA1	Pathogenic	17	41203078	41203078	A	C	criteria provided, single submitter	ClinGen:CA003488
single nucleotide variant	NM_007294.4(BRCA1):c.4987-1G>A	BRCA1	Pathogenic	17	41219713	41219713	C	T	reviewed by expert panel	ClinGen:CA003130
single nucleotide variant	NM_007294.4(BRCA1):c.4097-2A>C	BRCA1	Pathogenic	17	41243051	41243051	T	G	criteria provided, single submitter	ClinGen:CA002626
Deletion	NM_007294.4(BRCA1):c.3129_3138del (p.Asn1043fs)	BRCA1	Pathogenic	17	41244410	41244419	CTTCATTAATA	C	reviewed by expert panel	ClinGen:CA002045
Deletion	NM_007294.4(BRCA1):c.2945del (p.Pro982fs)	BRCA1	Pathogenic	17	41244603	41244603	TG	T	reviewed by expert panel	ClinGen:CA001923
Deletion	NM_007294.4(BRCA1):c.2938del (p.Ile980fs)	BRCA1	Pathogenic	17	41244610	41244610	AT	A	reviewed by expert panel	ClinGen:CA001920
Deletion	NM_007294.4(BRCA1):c.1860del (p.His621fs)	BRCA1	Pathogenic	17	41245688	41245688	GA	G	reviewed by expert panel	ClinGen:CA001208
single nucleotide variant	NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)	BRCA1	Pathogenic	17	41245834	41245834	C	A	reviewed by expert panel	ClinGen:CA001124
Deletion	NM_007294.4(BRCA1):c.1340_1341del (p.Val447fs)	BRCA1	Pathogenic	17	41246207	41246208	GAA	G	reviewed by expert panel	ClinGen:CA000876
single nucleotide variant	NM_007294.4(BRCA1):c.869T>G (p.Leu290Ter)	BRCA1	Pathogenic	17	41246679	41246679	A	C	reviewed by expert panel	ClinGen:CA003944