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.6447_6448dup (p.Lys2150fs)	BRCA2	Pathogenic	13	32914938	32914939	T	TTA	reviewed by expert panel	ClinGen:CA024063
Deletion	NM_000059.4(BRCA2):c.6449_6450del (p.Lys2150fs)	BRCA2	Pathogenic	13	32914940	32914941	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6677&base_change=del AA,ClinGen:CA024064
Duplication	NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)	BRCA2	Pathogenic	13	32914939	32914940	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6678&base_change=ins A,ClinGen:CA024068
single nucleotide variant	NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter)	BRCA2	Pathogenic	13	32914954	32914954	T	G	reviewed by expert panel	ClinGen:CA024081
single nucleotide variant	NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter)	BRCA2	Pathogenic	13	32914961	32914961	C	T	reviewed by expert panel	ClinGen:CA024090
single nucleotide variant	NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter)	BRCA2	Pathogenic	13	32914982	32914982	C	T	reviewed by expert panel	ClinGen:CA024107
Indel	NM_000059.4(BRCA2):c.6490_6492delinsGACT (p.Gln2164fs)	BRCA2	Pathogenic	13	32914982	32914984	CAG	GACT	reviewed by expert panel	ClinGen:CA024105
Deletion	NM_000059.4(BRCA2):c.6490del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914982	32914982	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6718&base_change=del C,ClinGen:CA024109
Deletion	NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914983	32914986	CAGTT	C	reviewed by expert panel	ClinGen:CA024111
Deletion	NM_000059.4(BRCA2):c.6491_6495del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914983	32914987	CAGTTG	C	reviewed by expert panel	ClinGen:CA024113