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.7403dup (p.Thr2469fs)	BRCA2	Likely pathogenic	13	32929392	32929393	G	GT	criteria provided, single submitter	ClinGen:CA658683844
Insertion	NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter)	BRCA2	Likely pathogenic	13	32969033	32969034	T	TTTGA	criteria provided, single submitter	ClinGen:CA658683822
Deletion	NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905091	32905092	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683831
Deletion	NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912230	32912233	ATATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683869
Duplication	NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs)	BRCA2	Likely pathogenic	13	32912760	32912761	C	CT	criteria provided, single submitter	ClinGen:CA658683807
Duplication	NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs)	BRCA2	Likely pathogenic	13	32914927	32914928	T	TAATC	criteria provided, single submitter	ClinGen:CA658683805
Deletion	NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)	BRCA1	Likely pathogenic	17	41234567	41234567	CA	C	criteria provided, single submitter	ClinGen:CA658684087
Duplication	NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953565	32953566	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683851
Deletion	NM_007294.4(BRCA1):c.754del (p.Arg252fs)	BRCA1	Pathogenic	17	41246794	41246794	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684122
Deletion	NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)	BRCA2	Pathogenic/Likely pathogenic	13	32954280	32954280	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683861