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.1164_1168del (p.Pro389fs)	BRCA2	Pathogenic	13	32906777	32906781	TGTACC	T	reviewed by expert panel	ClinGen:CA10586490
Deletion	NM_000059.4(BRCA2):c.1187_1200del (p.Ser396fs)	BRCA2	Pathogenic	13	32906801	32906814	GTCTCAACTAACCCT	G	reviewed by expert panel	ClinGen:CA10586491
Deletion	NM_000059.4(BRCA2):c.1226del (p.Glu409fs)	BRCA2	Pathogenic	13	32906841	32906841	GA	G	reviewed by expert panel	ClinGen:CA10586492
Deletion	NM_000059.4(BRCA2):c.1311_1314del (p.Lys437fs)	BRCA2	Pathogenic	13	32906926	32906929	AAGAT	A	reviewed by expert panel	ClinGen:CA10586494
single nucleotide variant	NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter)	BRCA2	Pathogenic	13	32906940	32906940	C	G	reviewed by expert panel	ClinGen:CA10586495
Deletion	NM_000059.4(BRCA2):c.1507_1508del (p.Lys503fs)	BRCA2	Pathogenic	13	32907119	32907120	CAA	C	reviewed by expert panel	ClinGen:CA10586496
Insertion	NM_000059.4(BRCA2):c.1704_1705insG (p.Gln569fs)	BRCA2	Pathogenic	13	32907319	32907320	A	AG	reviewed by expert panel	ClinGen:CA10586497
Deletion	NM_000059.4(BRCA2):c.1989del (p.Phe663fs)	BRCA2	Pathogenic	13	32910478	32910478	CT	C	reviewed by expert panel	ClinGen:CA10586498
Deletion	NM_000059.4(BRCA2):c.2085_2089del (p.Glu696fs)	BRCA2	Pathogenic	13	32910575	32910579	TAAGGA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2312&base_change=del AGGAA,ClinGen:CA014280
Deletion	NM_000059.4(BRCA2):c.2226del (p.Gln742fs)	BRCA2	Pathogenic	13	32910717	32910717	CA	C	reviewed by expert panel	ClinGen:CA10586499