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
Indel	NM_000059.4(BRCA2):c.7210_7216delinsTG (p.Lys2404fs)	BRCA2	Pathogenic	13	32929200	32929206	AAAGTCT	TG	reviewed by expert panel	ClinGen:CA024964
Deletion	NM_000059.4(BRCA2):c.7211_7212del (p.Lys2404fs)	BRCA2	Pathogenic	13	32929200	32929201	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7439&base_change=del AA,ClinGen:CA024966
Deletion	NM_000059.4(BRCA2):c.7224_7227del (p.Pro2409fs)	BRCA2	Pathogenic	13	32929214	32929217	CACCT	C	reviewed by expert panel	ClinGen:CA024972
Deletion	NM_000059.4(BRCA2):c.7226del (p.Pro2409fs)	BRCA2	Pathogenic	13	32929215	32929215	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7454&base_change=del C,ClinGen:CA024977
Insertion	NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)	BRCA2	Pathogenic	13	32929224	32929225	A	AG	reviewed by expert panel	ClinGen:CA024981
single nucleotide variant	NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)	BRCA2	Pathogenic	13	32929231	32929231	C	G	reviewed by expert panel	ClinGen:CA024987
single nucleotide variant	NM_000059.4(BRCA2):c.7261C>T (p.Gln2421Ter)	BRCA2	Pathogenic	13	32929251	32929251	C	T	reviewed by expert panel	ClinGen:CA025004
Deletion	NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)	BRCA2	Pathogenic	13	32905103	32905106	ATGAT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):957&base_change=del TGAT,ClinGen:CA025015
single nucleotide variant	NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter)	BRCA2	Pathogenic	13	32929293	32929293	C	T	reviewed by expert panel	ClinGen:CA025020
Deletion	NM_000059.4(BRCA2):c.7322del (p.Gly2441fs)	BRCA2	Pathogenic	13	32929311	32929311	TG	T	reviewed by expert panel	ClinGen:CA025029