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
Duplication	NM_007294.4(BRCA1):c.2445dup (p.His816fs)	BRCA1	Pathogenic	17	41245102	41245103	G	GA	reviewed by expert panel	-
Duplication	NM_007294.4(BRCA1):c.2443dup (p.Ile815fs)	BRCA1	Pathogenic	17	41245104	41245105	A	AT	reviewed by expert panel	-
Duplication	NM_007294.4(BRCA1):c.2327dup (p.Asp776fs)	BRCA1	Pathogenic	17	41245220	41245221	A	AT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2312_2313insC (p.Leu771fs)	BRCA1	Pathogenic	17	41245235	41245236	C	CG	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2247_2248insGA (p.Leu750fs)	BRCA1	Pathogenic	17	41245300	41245301	G	GTC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2216_2217insCT (p.Lys739fs)	BRCA1	Pathogenic	17	41245331	41245332	T	TAG	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.2071_2171del (p.Lys690_Arg691insTer)	BRCA1	Pathogenic	17	41245377	41245477	AGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCT	A	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2162_2163insG (p.Phe721fs)	BRCA1	Pathogenic	17	41245385	41245386	A	AC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2128_2129insGA (p.Thr710fs)	BRCA1	Pathogenic	17	41245419	41245420	G	GTC	reviewed by expert panel	-
Duplication	NM_007294.4(BRCA1):c.2128dup (p.Thr710fs)	BRCA1	Pathogenic	17	41245419	41245420	G	GT	reviewed by expert panel	-