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.9311dup (p.Phe3105fs)	BRCA2	Pathogenic	13	32968877	32968878	T	TA	reviewed by expert panel	ClinGen:CA10589557
Indel	NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)	BRCA2	Pathogenic	13	32968900	32968904	GAGGA	CCT	reviewed by expert panel	ClinGen:CA10589558
Deletion	NM_000059.4(BRCA2):c.9350del (p.His3117fs)	BRCA2	Pathogenic	13	32968919	32968919	CA	C	reviewed by expert panel	ClinGen:CA10589559
Duplication	NM_000059.4(BRCA2):c.9351dup (p.Met3118fs)	BRCA2	Pathogenic	13	32968919	32968920	A	AT	reviewed by expert panel	ClinGen:CA10589560
Insertion	NM_000059.4(BRCA2):c.9352_9353insAT (p.Met3118fs)	BRCA2	Pathogenic	13	32968921	32968922	A	AAT	reviewed by expert panel	ClinGen:CA10589561
Deletion	NM_000059.4(BRCA2):c.9354_9355del (p.Met3118fs)	BRCA2	Pathogenic	13	32968922	32968923	ATG	A	reviewed by expert panel	ClinGen:CA10589562
Deletion	NM_000059.4(BRCA2):c.9357_9360del (p.Ile3120fs)	BRCA2	Pathogenic	13	32968924	32968927	GTTAA	G	reviewed by expert panel	ClinGen:CA10589563
Deletion	NM_000059.4(BRCA2):c.9381_9388del (p.Trp3127_Glu3130delinsTer)	BRCA2	Pathogenic	13	32968949	32968956	TGGCGACCA	T	reviewed by expert panel	ClinGen:CA10589564
single nucleotide variant	NM_000059.4(BRCA2):c.9413T>G (p.Leu3138Ter)	BRCA2	Pathogenic	13	32968982	32968982	T	G	reviewed by expert panel	ClinGen:CA10589565
Deletion	NM_000059.4(BRCA2):c.9418_9430del (p.Ala3140fs)	BRCA2	Pathogenic	13	32968984	32968996	ATTTGCTGGAGATT	A	reviewed by expert panel	ClinGen:CA10589566