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
single nucleotide variant	NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)	BRCA2	Pathogenic	13	32968925	32968925	T	G	reviewed by expert panel	ClinGen:CA026114
Indel	NM_000059.4(BRCA2):c.9356_9357delinsG (p.Met3118_Leu3119insTer)	BRCA2	Pathogenic	13	32968925	32968926	TA	G	reviewed by expert panel	ClinGen:CA026113
Deletion	NM_000059.4(BRCA2):c.9360del (p.Ile3120fs)	BRCA2	Pathogenic	13	32968928	32968928	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9588&base_change=del T,ClinGen:CA026115
single nucleotide variant	NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)	BRCA2	Pathogenic	13	32968945	32968945	C	T	reviewed by expert panel	ClinGen:CA026122
single nucleotide variant	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2	Pathogenic	13	32968951	32968951	C	T	reviewed by expert panel	ClinGen:CA026127
Deletion	NM_000059.4(BRCA2):c.9393del (p.Lys3132fs)	BRCA2	Pathogenic	13	32968961	32968961	TC	T	reviewed by expert panel	ClinGen:CA026135
single nucleotide variant	NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)	BRCA2	Pathogenic	13	32893239	32893239	G	A	reviewed by expert panel	ClinGen:CA026138
Deletion	NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)	BRCA2	Pathogenic	13	32968971	32968971	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9631&base_change=del C,ClinGen:CA026143
Deletion	NM_000059.4(BRCA2):c.9408del (p.Thr3137fs)	BRCA2	Pathogenic	13	32968976	32968976	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9636&base_change=del T,ClinGen:CA026145
Deletion	NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)	BRCA2	Pathogenic	13	32968995	32968995	AT	A	reviewed by expert panel	ClinGen:CA026152