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.3860_3863del (p.Asn1287fs)	BRCA2	Pathogenic	13	32912350	32912353	AAAAT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=del ATAA,ClinGen:CA018990
Deletion	NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)	BRCA2	Pathogenic	13	32912346	32912346	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4082&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=del A,ClinGen:CA018995
Duplication	NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)	BRCA2	Pathogenic	13	32912345	32912346	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=ins A,ClinGen:CA018986
Duplication	NM_000059.4(BRCA2):c.3863dup (p.Asn1288fs)	BRCA2	Pathogenic	13	32912353	32912354	T	TA	reviewed by expert panel	ClinGen:CA019002
Deletion	NM_000059.4(BRCA2):c.3866_3867del (p.Lys1289fs)	BRCA2	Pathogenic	13	32912357	32912358	TAA	T	reviewed by expert panel	ClinGen:CA019031
single nucleotide variant	NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)	BRCA2	Pathogenic	13	32912363	32912363	C	T	reviewed by expert panel	ClinGen:CA019043
single nucleotide variant	NM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter)	BRCA2	Pathogenic	13	32912373	32912373	T	A	reviewed by expert panel	ClinGen:CA019063
Deletion	NM_000059.4(BRCA2):c.3887del (p.Asn1296fs)	BRCA2	Pathogenic	13	32912376	32912376	CA	C	reviewed by expert panel	ClinGen:CA019069
Deletion	NM_000059.4(BRCA2):c.3911del (p.Thr1304fs)	BRCA2	Pathogenic	13	32912403	32912403	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4139&base_change=del C,ClinGen:CA019141
Deletion	NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)	BRCA2	Pathogenic	13	32912404	32912404	CT	C	reviewed by expert panel	ClinGen:CA019164