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.1671_1674del (p.Asp559fs)	BRCA2	Pathogenic	13	32907284	32907287	TTTAA	T	reviewed by expert panel	ClinGen:CA10589109
Deletion	NM_000059.4(BRCA2):c.1674_1680del (p.Ile558fs)	BRCA2	Pathogenic	13	32907285	32907291	TTAATTGA	T	reviewed by expert panel	ClinGen:CA10589110
Deletion	NM_000059.4(BRCA2):c.1675del (p.Asp559fs)	BRCA2	Pathogenic	13	32907290	32907290	TG	T	reviewed by expert panel	ClinGen:CA10589111
Deletion	NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs)	BRCA2	Pathogenic	13	32907321	32907322	CAG	C	reviewed by expert panel	ClinGen:CA10589114
Deletion	NM_000059.4(BRCA2):c.1739_1754del (p.Ile580fs)	BRCA2	Pathogenic	13	32907352	32907367	TAATATCCACTTTGAAA	T	reviewed by expert panel	ClinGen:CA10589115
Deletion	NM_000059.4(BRCA2):c.1762_1766del (p.Asn588fs)	BRCA2	Pathogenic	13	32907376	32907380	CAAATA	C	reviewed by expert panel	ClinGen:CA10589116
Deletion	NM_000059.4(BRCA2):c.1774_1777del (p.Tyr592fs)	BRCA2	Pathogenic	13	32907389	32907392	TTATG	T	reviewed by expert panel	ClinGen:CA10589117
Deletion	NM_000059.4(BRCA2):c.1787_1799del (p.Asp596fs)	BRCA2	Pathogenic	13	32907402	32907414	GATGAAACATCTTA	G	reviewed by expert panel	ClinGen:CA10589118
Deletion	NM_000059.4(BRCA2):c.1792del (p.Thr598fs)	BRCA2	Pathogenic	13	32907405	32907405	GA	G	reviewed by expert panel	ClinGen:CA10589119
Deletion	NM_000059.4(BRCA2):c.1798_1802del (p.Tyr600fs)	BRCA2	Pathogenic	13	32907413	32907417	TTATAA	T	reviewed by expert panel	ClinGen:CA10589120