遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.2192_2196del (p.Glu731fs)	BRCA2	Pathogenic	13	32910682	32910686	AAGAAG	A	reviewed by expert panel	ClinGen:CA16619667
Deletion	NM_000059.4(BRCA2):c.2273del (p.Ser758fs)	BRCA2	Pathogenic	13	32910765	32910765	AG	A	reviewed by expert panel	ClinGen:CA16619668
Deletion	NM_000059.4(BRCA2):c.2336del (p.Leu779fs)	BRCA2	Pathogenic	13	32910828	32910828	CT	C	reviewed by expert panel	ClinGen:CA16619671
Deletion	NM_000059.4(BRCA2):c.2775del (p.Thr926fs)	BRCA2	Pathogenic	13	32911267	32911267	CT	C	reviewed by expert panel	ClinGen:CA16619677
Deletion	NM_000059.4(BRCA2):c.3032del (p.Thr1011fs)	BRCA2	Pathogenic	13	32911524	32911524	AC	A	reviewed by expert panel	ClinGen:CA16619680
Deletion	NM_000059.4(BRCA2):c.3060_3061del (p.Glu1021fs)	BRCA2	Pathogenic	13	32911552	32911553	CTG	C	reviewed by expert panel	ClinGen:CA16619681
Insertion	NM_000059.4(BRCA2):c.3205_3206insTAATTGCAGTCAATTAATA (p.Ser1069delinsLeuIleAlaValAsnTer)	BRCA2	Pathogenic	13	32911697	32911698	T	TTAATTGCAGTCAATTAATA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619691
single nucleotide variant	NM_000059.4(BRCA2):c.3272T>A (p.Leu1091Ter)	BRCA2	Pathogenic	13	32911764	32911764	T	A	reviewed by expert panel	ClinGen:CA16619695
Duplication	NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)	BRCA2	Pathogenic	13	32911941	32911942	C	CT	reviewed by expert panel	ClinGen:CA16619697
Indel	NM_000059.4(BRCA2):c.3645_3647delinsTA (p.Phe1216fs)	BRCA2	Pathogenic	13	32912137	32912139	GTT	TA	reviewed by expert panel	ClinGen:CA16619698