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.6763dup (p.Thr2255fs)	BRCA2	Pathogenic	13	32915254	32915255	T	TA	reviewed by expert panel	ClinGen:CA10586564
Deletion	NM_000059.4(BRCA2):c.6947_6950del (p.Lys2316fs)	BRCA2	Pathogenic	13	32920972	32920975	AAAAG	A	reviewed by expert panel	ClinGen:CA024613
Insertion	NM_000059.4(BRCA2):c.6948_6949insTT (p.Asp2317fs)	BRCA2	Pathogenic	13	32920974	32920975	A	ATT	reviewed by expert panel	ClinGen:CA10586565
single nucleotide variant	NM_000059.4(BRCA2):c.6982G>T (p.Glu2328Ter)	BRCA2	Pathogenic	13	32921008	32921008	G	T	reviewed by expert panel	ClinGen:CA10586566
Deletion	NM_000059.4(BRCA2):c.7037del (p.Asn2346fs)	BRCA2	Pathogenic	13	32929026	32929026	GA	G	reviewed by expert panel	ClinGen:CA10586567
single nucleotide variant	NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)	BRCA2	Pathogenic	13	32929053	32929053	G	T	reviewed by expert panel	ClinGen:CA6941056
Deletion	NM_000059.4(BRCA2):c.7083_7092del (p.Leu2362fs)	BRCA2	Pathogenic	13	32929072	32929081	CATTTGTATGA	C	reviewed by expert panel	ClinGen:CA10586568
Deletion	NM_000059.4(BRCA2):c.7109_7110del (p.Lys2370fs)	BRCA2	Pathogenic	13	32929096	32929097	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7336&base_change=del AA,ClinGen:CA024875
Deletion	NM_000059.4(BRCA2):c.7184_7187del (p.His2395fs)	BRCA2	Pathogenic	13	32929174	32929177	CACTT	C	reviewed by expert panel	ClinGen:CA10586569
Deletion	NM_000059.4(BRCA2):c.7248del (p.His2417fs)	BRCA2	Pathogenic	13	32929235	32929235	AT	A	reviewed by expert panel	ClinGen:CA10586570