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
Deletion	NM_000059.4(BRCA2):c.5592_5593del (p.Phe1866fs)	BRCA2	Pathogenic	13	32914083	32914084	GAC	G	reviewed by expert panel	ClinGen:CA022659
Indel	NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)	BRCA2	Pathogenic	13	32914101	32914102	TC	AG	reviewed by expert panel	ClinGen:CA022697,OMIM:600185.0021
Deletion	NM_000059.4(BRCA2):c.5624del (p.Lys1875fs)	BRCA2	Pathogenic	13	32914115	32914115	TA	T	reviewed by expert panel	ClinGen:CA022733
single nucleotide variant	NM_000059.4(BRCA2):c.5626G>T (p.Glu1876Ter)	BRCA2	Pathogenic	13	32914118	32914118	G	T	reviewed by expert panel	ClinGen:CA022743
Deletion	NM_000059.4(BRCA2):c.5641_5644del (p.Lys1881fs)	BRCA2	Pathogenic	13	32914130	32914133	GAATA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5869&base_change=del 4,ClinGen:CA022798
Deletion	NM_000059.4(BRCA2):c.5650_5659del (p.Ile1884fs)	BRCA2	Pathogenic	13	32914139	32914148	AAAAATTTGCC	A	reviewed by expert panel	ClinGen:CA022835
single nucleotide variant	NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)	BRCA2	Pathogenic	13	32914148	32914148	C	T	reviewed by expert panel	ClinGen:CA022876
Deletion	NM_000059.4(BRCA2):c.5665del (p.Ile1889fs)	BRCA2	Pathogenic	13	32914154	32914154	GA	G	reviewed by expert panel	ClinGen:CA022906
single nucleotide variant	NM_000059.4(BRCA2):c.5699C>A (p.Ser1900Ter)	BRCA2	Pathogenic	13	32914191	32914191	C	A	reviewed by expert panel	ClinGen:CA023001
Deletion	NM_000059.4(BRCA2):c.5717_5718del (p.Asn1906fs)	BRCA2	Pathogenic	13	32914209	32914210	AAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5945&base_change=del AC,ClinGen:CA023037