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.5406+5G>C	BRCA1	Pathogenic/Likely pathogenic	17	41201133	41201133	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003560
single nucleotide variant	NM_007294.4(BRCA1):c.5407-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41199722	41199722	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5526-2&base_change=A to G,ClinGen:CA003572
Deletion	NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)	BRCA1	Pathogenic	17	41199708	41199708	AT	A	reviewed by expert panel	ClinGen:CA003582,Breast Cancer Information Core (BIC) (BRCA1):5537&base_change=del A
single nucleotide variant	NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	BRCA1	Pathogenic	17	41199696	41199696	G	A	reviewed by expert panel	ClinGen:CA003593
single nucleotide variant	NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)	BRCA1	Likely pathogenic	17	41199695	41199695	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003594
Deletion	NM_007294.4(BRCA1):c.5440del (p.Ala1814fs)	BRCA1	Pathogenic	17	41199687	41199687	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5559&base_change=del G,ClinGen:CA003598
single nucleotide variant	NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)	BRCA1	Pathogenic	17	41199683	41199683	C	T	reviewed by expert panel	ClinGen:CA003599
single nucleotide variant	NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)	BRCA1	Pathogenic	17	41199682	41199682	C	T	reviewed by expert panel	ClinGen:CA003600
single nucleotide variant	NM_007294.4(BRCA1):c.5449G>T (p.Glu1817Ter)	BRCA1	Pathogenic	17	41199678	41199678	C	A	reviewed by expert panel	ClinGen:CA003602
single nucleotide variant	NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)	BRCA1	Pathogenic/Likely pathogenic	17	41199660	41199660	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003618