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.2279_2283del (p.Leu759_Leu760insTer)	BRCA2	Pathogenic	13	32910770	32910774	TTTATA	T	reviewed by expert panel	ClinGen:CA6940591
Deletion	NM_000059.4(BRCA2):c.2279del (p.Leu760fs)	BRCA2	Pathogenic	13	32910768	32910768	CT	C	reviewed by expert panel	ClinGen:CA10586500
Deletion	NM_000059.4(BRCA2):c.2319del (p.Thr774fs)	BRCA2	Pathogenic	13	32910811	32910811	CT	C	reviewed by expert panel	ClinGen:CA6940595
Deletion	NM_000059.4(BRCA2):c.2325del (p.Lys776fs)	BRCA2	Pathogenic	13	32910816	32910816	TC	T	reviewed by expert panel	ClinGen:CA014948
Deletion	NM_000059.4(BRCA2):c.2364del (p.Glu790fs)	BRCA2	Pathogenic	13	32910856	32910856	GC	G	reviewed by expert panel	ClinGen:CA10586501
single nucleotide variant	NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter)	BRCA2	Pathogenic	13	32911040	32911040	C	T	reviewed by expert panel	ClinGen:CA10586502
Duplication	NM_000059.4(BRCA2):c.2622dup (p.Val875fs)	BRCA2	Pathogenic	13	32911113	32911114	C	CT	reviewed by expert panel	ClinGen:CA10586503
Deletion	NM_000059.4(BRCA2):c.2648del (p.Phe883fs)	BRCA2	Pathogenic	13	32911137	32911137	CT	C	reviewed by expert panel	ClinGen:CA10586504
single nucleotide variant	NM_000059.4(BRCA2):c.2651C>A (p.Ser884Ter)	BRCA2	Pathogenic	13	32911143	32911143	C	A	reviewed by expert panel	ClinGen:CA10586505
Deletion	NM_000059.4(BRCA2):c.2655_2656del (p.Asp885fs)	BRCA2	Pathogenic	13	32911146	32911147	GAC	G	reviewed by expert panel	ClinGen:CA6940621