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.9227del (p.Gly3076fs)	BRCA2	Pathogenic	13	32954252	32954252	AG	A	reviewed by expert panel	ClinGen:CA026039
single nucleotide variant	NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter)	BRCA2	Pathogenic	13	32954273	32954273	A	T	reviewed by expert panel	ClinGen:CA026049
Deletion	NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)	BRCA2	Pathogenic	13	32954273	32954273	GA	G	reviewed by expert panel	ClinGen:CA026054
single nucleotide variant	NM_000059.4(BRCA2):c.9256+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32954283	32954283	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9484+1&base_change=G to A,ClinGen:CA026057
single nucleotide variant	NM_000059.4(BRCA2):c.9256G>T (p.Gly3086Ter)	BRCA2	Pathogenic	13	32954282	32954282	G	T	reviewed by expert panel	ClinGen:CA026059
single nucleotide variant	NM_000059.4(BRCA2):c.9257-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32968825	32968825	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026064
single nucleotide variant	NM_000059.4(BRCA2):c.9257-1G>C	BRCA2	Pathogenic	13	32968825	32968825	G	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9485-1&base_change=G to C,ClinGen:CA026065
Duplication	NM_000059.4(BRCA2):c.9262dup (p.Ala3088fs)	BRCA2	Pathogenic	13	32968830	32968831	T	TG	reviewed by expert panel	ClinGen:CA026070
Duplication	NM_000059.4(BRCA2):c.9269dup (p.Val3091fs)	BRCA2	Pathogenic	13	32968835	32968836	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9497&base_change=ins T,ClinGen:CA026074
Deletion	NM_000059.4(BRCA2):c.9275_9276del (p.Tyr3092fs)	BRCA2	Pathogenic	13	32968843	32968844	CTA	C	reviewed by expert panel	ClinGen:CA026078