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.2840del (p.Leu947fs)	BRCA2	Pathogenic	13	32911330	32911330	AT	A	reviewed by expert panel	ClinGen:CA016591
Duplication	NM_000059.4(BRCA2):c.3386dup (p.Phe1130fs)	BRCA2	Pathogenic	13	32911877	32911878	C	CA	reviewed by expert panel	ClinGen:CA017908
single nucleotide variant	NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)	BRCA2	Pathogenic	13	32911969	32911969	C	A	reviewed by expert panel	ClinGen:CA018138
Deletion	NM_000059.4(BRCA2):c.3779del (p.Leu1260fs)	BRCA2	Pathogenic	13	32912269	32912269	GT	G	reviewed by expert panel	ClinGen:CA018789
single nucleotide variant	NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter)	BRCA2	Pathogenic	13	32912431	32912431	C	G	reviewed by expert panel	ClinGen:CA019246
Deletion	NM_000059.4(BRCA2):c.4085del (p.His1362fs)	BRCA2	Pathogenic	13	32912577	32912577	CA	C	reviewed by expert panel	ClinGen:CA019488
Deletion	NM_000059.4(BRCA2):c.4519del (p.Gln1507fs)	BRCA2	Pathogenic	13	32913010	32913010	TC	T	reviewed by expert panel	ClinGen:CA020300
Deletion	NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913427	32913428	AAG	A	reviewed by expert panel	ClinGen:CA021033
Insertion	NM_000059.4(BRCA2):c.4976_4977insG (p.Tyr1661fs)	BRCA2	Pathogenic	13	32913468	32913469	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA021089
Deletion	NM_000059.4(BRCA2):c.5378del (p.Asn1793fs)	BRCA2	Pathogenic	13	32913869	32913869	CA	C	reviewed by expert panel	ClinGen:CA022162