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
Deletion	NM_000059.4(BRCA2):c.1844del (p.Asn615fs)	BRCA2	Pathogenic	13	32907458	32907458	TA	T	criteria provided, single submitter	ClinGen:CA658656344
Deletion	NM_000059.4(BRCA2):c.2105_2106del (p.Ile702fs)	BRCA2	Pathogenic	13	32910597	32910598	ATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656357
Deletion	NM_000059.4(BRCA2):c.6085del (p.Glu2029fs)	BRCA2	Pathogenic	13	32914577	32914577	AG	A	criteria provided, single submitter	ClinGen:CA658656413
single nucleotide variant	NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter)	BRCA2	Pathogenic	13	32910736	32910736	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387770853
single nucleotide variant	NM_000059.4(BRCA2):c.6395T>G (p.Leu2132Ter)	BRCA2	Pathogenic	13	32914887	32914887	T	G	reviewed by expert panel	ClinGen:CA387789224
single nucleotide variant	NM_000059.4(BRCA2):c.2596G>T (p.Glu866Ter)	BRCA2	Pathogenic	13	32911088	32911088	G	T	criteria provided, single submitter	ClinGen:CA387772621
Deletion	NM_000059.4(BRCA2):c.6975_6976del (p.Ser2326fs)	BRCA2	Pathogenic	13	32921000	32921001	GTT	G	criteria provided, single submitter	ClinGen:CA658656386
Deletion	NM_000059.4(BRCA2):c.6981_7005del (p.Leu2327fs)	BRCA2	Pathogenic	13	32921003	32921027	TCTTTAGAGCCGATTACCTGTGTACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656387
single nucleotide variant	NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)	BRCA2	Pathogenic	13	32954173	32954173	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757888
Deletion	NM_000059.4(BRCA2):c.9219_9228del (p.Ile3075fs)	BRCA2	Pathogenic	13	32954242	32954251	TGGACCTAATA	T	criteria provided, single submitter	ClinGen:CA658656440