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
single nucleotide variant	NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter)	BRCA2	Pathogenic	13	32945234	32945234	G	T	reviewed by expert panel	ClinGen:CA025737
single nucleotide variant	NM_000059.4(BRCA2):c.8632+1G>A	BRCA2	Pathogenic	13	32945238	32945238	G	A	reviewed by expert panel	ClinGen:CA025740
single nucleotide variant	NM_000059.4(BRCA2):c.8632+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32945239	32945239	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025743
single nucleotide variant	NM_000059.4(BRCA2):c.8633-2A>T	BRCA2	Pathogenic	13	32950805	32950805	A	T	criteria provided, single submitter	ClinGen:CA025750
Duplication	NM_000059.4(BRCA2):c.8636dup (p.Asn2879fs)	BRCA2	Pathogenic	13	32950806	32950807	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8864&base_change=ins A,ClinGen:CA025755
single nucleotide variant	NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)	BRCA2	Pathogenic	13	32950818	32950818	A	T	reviewed by expert panel	ClinGen:CA025757
Deletion	NM_000059.4(BRCA2):c.8646_8649del (p.Lys2882fs)	BRCA2	Pathogenic	13	32950819	32950822	AAACC	A	reviewed by expert panel	ClinGen:CA025758
Deletion	NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)	BRCA2	Pathogenic	13	32950847	32950848	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8901&base_change=del AA,ClinGen:CA025774
Deletion	NM_000059.4(BRCA2):c.8676del (p.Arg2892fs)	BRCA2	Pathogenic	13	32950850	32950850	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8904&base_change=del A,ClinGen:CA025775
single nucleotide variant	NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)	BRCA2	Pathogenic	13	32950854	32950854	C	T	reviewed by expert panel	ClinGen:CA025778