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
Duplication	NM_000059.4(BRCA2):c.3593dup (p.Asn1198fs)	BRCA2	Pathogenic	13	32912080	32912081	G	GA	reviewed by expert panel	ClinGen:CA280072
Deletion	NM_000059.4(BRCA2):c.3599del (p.Cys1200fs)	BRCA2	Pathogenic	13	32912091	32912091	TG	T	reviewed by expert panel	ClinGen:CA10586511
Deletion	NM_000059.4(BRCA2):c.3639_3652del (p.Val1214fs)	BRCA2	Pathogenic	13	32912131	32912144	AAGTGGGGTTTAGGG	A	reviewed by expert panel	ClinGen:CA10586512
Deletion	NM_000059.4(BRCA2):c.3639del (p.Val1214fs)	BRCA2	Pathogenic	13	32912130	32912130	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3866&base_change=del A,ClinGen:CA018444
Deletion	NM_000059.4(BRCA2):c.3681del (p.Asn1228fs)	BRCA2	Pathogenic	13	32912173	32912173	TG	T	reviewed by expert panel	ClinGen:CA10586513
Deletion	NM_000059.4(BRCA2):c.3720_3723del (p.Phe1241fs)	BRCA2	Pathogenic	13	32912211	32912214	CTGTT	C	reviewed by expert panel	ClinGen:CA10586514
Deletion	NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)	BRCA2	Pathogenic	13	32912266	32912267	TAA	T	reviewed by expert panel	ClinGen:CA10586515
Deletion	NM_000059.4(BRCA2):c.3808_3809del (p.Val1270fs)	BRCA2	Pathogenic	13	32912299	32912300	TTG	T	reviewed by expert panel	ClinGen:CA10586516
Insertion	NM_000059.4(BRCA2):c.3849_3850insT (p.Ser1284Ter)	BRCA2	Pathogenic	13	32912341	32912342	A	AT	reviewed by expert panel	ClinGen:CA10586517
Deletion	NM_000059.4(BRCA2):c.3857_3860del (p.Lys1286fs)	BRCA2	Pathogenic	13	32912346	32912349	GAAAA	G	reviewed by expert panel	ClinGen:CA018962