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
Duplication	NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)	BRCA2	Pathogenic	13	32913032	32913033	G	GA	reviewed by expert panel	ClinGen:CA609453786
Deletion	NM_000059.4(BRCA2):c.4749del (p.Ile1583fs)	BRCA2	Pathogenic	13	32913240	32913240	AT	A	reviewed by expert panel	ClinGen:CA645509349
Indel	NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)	BRCA2	Pathogenic	13	32913693	32913697	AAAAA	GAAAAG	reviewed by expert panel	ClinGen:CA645509350
Indel	NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs)	BRCA2	Pathogenic	13	32914865	32914866	AC	G	reviewed by expert panel	ClinGen:CA645509067
Duplication	NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs)	BRCA2	Pathogenic	13	32914963	32914964	A	AT	reviewed by expert panel	ClinGen:CA645509068
single nucleotide variant	NM_000059.4(BRCA2):c.7977-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32937314	32937314	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387748410
single nucleotide variant	NM_000059.4(BRCA2):c.9256+2T>C	BRCA2	Pathogenic/Likely pathogenic	13	32954284	32954284	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA387758745
Duplication	NM_007294.4(BRCA1):c.4532dup (p.His1511fs)	BRCA1	Pathogenic	17	41226490	41226491	G	GT	reviewed by expert panel	ClinGen:CA645509505
single nucleotide variant	NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter)	BRCA1	Pathogenic	17	41226515	41226515	G	C	reviewed by expert panel	ClinGen:CA10592512
Duplication	NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)	BRCA1	Pathogenic	17	41243800	41243801	C	CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG	reviewed by expert panel	ClinGen:CA274940