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.5351del (p.Asn1784fs)	BRCA2	Pathogenic	13	32913837	32913837	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5579&base_change=del A,ClinGen:CA022110
Deletion	NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)	BRCA2	Pathogenic	13	32913901	32913902	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5638&base_change=del GT,ClinGen:CA022266
Deletion	NM_000059.4(BRCA2):c.5436del (p.Glu1812fs)	BRCA2	Pathogenic	13	32913927	32913927	GA	G	reviewed by expert panel	ClinGen:CA022325
Duplication	NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)	BRCA2	Pathogenic	13	32913958	32913959	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5699&base_change=ins A,ClinGen:CA022391
Deletion	NM_000059.4(BRCA2):c.5498del (p.Asn1833fs)	BRCA2	Pathogenic	13	32913989	32913989	TA	T	reviewed by expert panel	ClinGen:CA022455
Deletion	NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	BRCA2	Pathogenic	13	32914068	32914071	CAATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5803&base_change=del ATTA,Breast Cancer Information Core (BIC) (BRCA2):5804&base_change=del TTAA,ClinGen:CA022586
Deletion	NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer)	BRCA2	Pathogenic	13	32914068	32914068	AT	A	reviewed by expert panel	ClinGen:CA022612
single nucleotide variant	NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)	BRCA2	Pathogenic	13	32914106	32914106	A	T	reviewed by expert panel	ClinGen:CA022708
Deletion	NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)	BRCA2	Pathogenic	13	32914110	32914113	GTAAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5849&base_change=del TTAA,ClinGen:CA022719
Deletion	NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)	BRCA2	Pathogenic	13	32914123	32914123	AC	A	reviewed by expert panel	ClinGen:CA022753