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.4588A>T (p.Lys1530Ter)	BRCA2	Pathogenic	13	32913080	32913080	A	T	reviewed by expert panel	ClinGen:CA020499
Deletion	NM_000059.4(BRCA2):c.4593del (p.Val1532fs)	BRCA2	Pathogenic	13	32913080	32913080	GA	G	reviewed by expert panel	ClinGen:CA020516
Duplication	NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)	BRCA2	Pathogenic	13	32913079	32913080	G	GA	reviewed by expert panel	ClinGen:CA020508
Deletion	NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)	BRCA2	Pathogenic	13	32900273	32900274	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):690&base_change=del AA,ClinGen:CA020546
Duplication	NM_000059.4(BRCA2):c.4638dup (p.Asp1547Ter)	BRCA2	Pathogenic	13	32913125	32913126	C	CT	reviewed by expert panel	ClinGen:CA020568
Deletion	NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)	BRCA2	Pathogenic	13	32913139	32913142	AAGAG	A	reviewed by expert panel	ClinGen:CA020582
Deletion	NM_000059.4(BRCA2):c.464_468del (p.Arg155fs)	BRCA2	Pathogenic	13	32900276	32900280	AGAGAT	A	reviewed by expert panel	ClinGen:CA020578
single nucleotide variant	NM_000059.4(BRCA2):c.4684C>T (p.Gln1562Ter)	BRCA2	Pathogenic	13	32913176	32913176	C	T	reviewed by expert panel	ClinGen:CA020641
Duplication	NM_000059.4(BRCA2):c.4695_4698dup (p.Leu1567fs)	BRCA2	Pathogenic	13	32913186	32913187	A	AGACC	reviewed by expert panel	ClinGen:CA020665
Deletion	NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900282	TAA	T	reviewed by expert panel	ClinGen:CA020654