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
Indel	NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)	BRCA2	Pathogenic	13	32913313	32913315	TGA	C	reviewed by expert panel	ClinGen:CA020871
Deletion	NM_007294.4(BRCA1):c.4250del (p.Val1417fs)	BRCA1	Pathogenic	17	41234528	41234528	CA	C	reviewed by expert panel	ClinGen:CA002730
Indel	NM_000059.4(BRCA2):c.476-4_476-1delinsT	BRCA2	Pathogenic/Likely pathogenic	13	32900375	32900378	CCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020802
Duplication	NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)	BRCA2	Pathogenic	13	32914206	32914207	A	AT	reviewed by expert panel	ClinGen:CA170048
single nucleotide variant	NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)	BRCA2	Pathogenic	13	32945095	32945095	G	A	reviewed by expert panel	ClinGen:CA025681
Deletion	NM_000059.4(BRCA2):c.5386del (p.Asp1796fs)	BRCA2	Pathogenic	13	32913878	32913878	AG	A	reviewed by expert panel	ClinGen:CA022191
single nucleotide variant	NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter)	BRCA2	Pathogenic	13	32914536	32914536	T	A	reviewed by expert panel	ClinGen:CA023566
Deletion	NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs)	BRCA1	Pathogenic	17	41245932	41245936	CGTTTG	C	reviewed by expert panel	ClinGen:CA001072
Duplication	NM_000059.4(BRCA2):c.787dup (p.Ser263fs)	BRCA2	Pathogenic	13	32905159	32905160	C	CA	reviewed by expert panel	ClinGen:CA273049
single nucleotide variant	NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter)	BRCA2	Pathogenic	13	32911772	32911772	A	T	reviewed by expert panel	ClinGen:CA017703