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
Indel	NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG	RAD51C	Likely pathogenic	17	56770151	56770156	TAACGA	CTAAG	criteria provided, single submitter	ClinGen:CA10583601
single nucleotide variant	NM_058216.3(RAD51C):c.837+1G>T	RAD51C	Pathogenic/Likely pathogenic	17	56787352	56787352	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583607
Deletion	NM_000059.4(BRCA2):c.2045del (p.Ile682fs)	BRCA2	Pathogenic	13	32910537	32910537	AT	A	reviewed by expert panel	ClinGen:CA10584440
Deletion	NM_000059.4(BRCA2):c.2677del (p.Gln893fs)	BRCA2	Pathogenic	13	32911168	32911168	TC	T	reviewed by expert panel	ClinGen:CA10584441
Deletion	NM_000059.4(BRCA2):c.4594_4598del (p.Val1532fs)	BRCA2	Pathogenic	13	32913084	32913088	AAAGTT	A	reviewed by expert panel	ClinGen:CA10584446
Deletion	NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)	BRCA2	Pathogenic	13	32915250	32915250	CT	C	reviewed by expert panel	ClinGen:CA10584450
single nucleotide variant	NM_000059.4(BRCA2):c.7617+1G>C	BRCA2	Pathogenic	13	32930747	32930747	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584451
Deletion	NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)	BRCA1	Pathogenic	17	41201176	41201176	GA	G	reviewed by expert panel	ClinGen:CA10584545
Deletion	NM_007294.4(BRCA1):c.5249del (p.Lys1750fs)	BRCA1	Pathogenic	17	41209097	41209097	CT	C	reviewed by expert panel	ClinGen:CA10584547
Duplication	NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)	BRCA1	Pathogenic	17	41219641	41219642	A	ATGAG	reviewed by expert panel	ClinGen:CA10584549