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.3283C>T (p.Gln1095Ter)	BRCA2	Pathogenic	13	32911775	32911775	C	T	reviewed by expert panel	ClinGen:CA017706
single nucleotide variant	NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)	BRCA2	Pathogenic	13	32911788	32911788	C	G	reviewed by expert panel	ClinGen:CA017733
single nucleotide variant	NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter)	BRCA2	Pathogenic	13	32911811	32911811	C	T	reviewed by expert panel	ClinGen:CA017774
Deletion	NM_000059.4(BRCA2):c.3352_3356del (p.Leu1118fs)	BRCA2	Pathogenic	13	32911843	32911847	TATTAG	T	reviewed by expert panel	ClinGen:CA017832
Deletion	NM_000059.4(BRCA2):c.3354del (p.Glu1119fs)	BRCA2	Pathogenic	13	32911846	32911846	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3582&base_change=del A,ClinGen:CA017848
single nucleotide variant	NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)	BRCA2	Pathogenic	13	32911854	32911854	C	G	reviewed by expert panel	ClinGen:CA017866
Deletion	NM_000059.4(BRCA2):c.3366_3367del (p.Gln1124fs)	BRCA2	Pathogenic	13	32911858	32911859	GAA	G	reviewed by expert panel	ClinGen:CA017878
Deletion	NM_000059.4(BRCA2):c.3381del (p.Phe1127fs)	BRCA2	Pathogenic	13	32911871	32911871	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3609&base_change=del T,ClinGen:CA017889
single nucleotide variant	NM_000059.4(BRCA2):c.3442C>T (p.Gln1148Ter)	BRCA2	Pathogenic	13	32911934	32911934	C	T	reviewed by expert panel	ClinGen:CA018022
Duplication	NM_000059.4(BRCA2):c.3452dup (p.Thr1154fs)	BRCA2	Pathogenic	13	32911943	32911944	A	AT	reviewed by expert panel	ClinGen:CA018072