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.6202dup (p.Ile2068fs)	BRCA2	Pathogenic	13	32914693	32914694	C	CA	reviewed by expert panel	ClinGen:CA023740
Deletion	NM_000059.4(BRCA2):c.6206del (p.Ile2068_Leu2069insTer)	BRCA2	Pathogenic	13	32914695	32914695	AT	A	reviewed by expert panel	ClinGen:CA023743
Deletion	NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)	BRCA2	Pathogenic	13	32914699	32914702	TAGAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6437&base_change=del AAAG,ClinGen:CA023748
Deletion	NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)	BRCA2	Pathogenic	13	32914707	32914707	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6444&base_change=del C,ClinGen:CA023764
Indel	NM_000059.4(BRCA2):c.6220_6222delinsAA (p.His2074fs)	BRCA2	Pathogenic	13	32914712	32914714	CAC	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6448&base_change=del CAC ins AA,ClinGen:CA023768
Deletion	NM_000059.4(BRCA2):c.6235del (p.Val2079fs)	BRCA2	Pathogenic	13	32914727	32914727	AG	A	reviewed by expert panel	ClinGen:CA023777
single nucleotide variant	NM_000059.4(BRCA2):c.6239T>G (p.Leu2080Ter)	BRCA2	Pathogenic	13	32914731	32914731	T	G	reviewed by expert panel	ClinGen:CA023781
Duplication	NM_000059.4(BRCA2):c.6240dup (p.Glu2081fs)	BRCA2	Pathogenic	13	32914731	32914732	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6468&base_change=ins A,ClinGen:CA023785
Deletion	NM_000059.4(BRCA2):c.6268_6269del (p.Glu2089_His2090insTer)	BRCA2	Pathogenic	13	32914760	32914761	GCA	G	reviewed by expert panel	ClinGen:CA023797
Deletion	NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs)	BRCA2	Pathogenic	13	32914761	32914762	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6498&base_change=del TA,ClinGen:CA023800