ウィルムス腫瘍

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.4654_4657del (p.Gly1552fs)	BRCA2	Pathogenic	13	32913145	32913148	AAGGT	A	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.4731dup (p.Leu1578fs)	BRCA2	Pathogenic	13	32913221	32913222	G	GA	reviewed by expert panel	ClinGen:CA020718
Deletion	NM_000059.4(BRCA2):c.4936del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913428	32913428	AG	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4975_4976insG (p.Ser1659fs)	BRCA2	Pathogenic	13	32913467	32913468	T	TG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4980_4981insG (p.Tyr1661fs)	BRCA2	Pathogenic	13	32913472	32913473	T	TG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5085dup (p.Gly1696fs)	BRCA2	Pathogenic	13	32913575	32913576	G	GA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5219_5220dup (p.Ser1741Ter)	BRCA2	Pathogenic	13	32913710	32913711	T	TTA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.5240_5241insTA (p.Ser1748fs)	BRCA2	Pathogenic	13	32913731	32913732	A	AAT	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.5253C>A (p.Tyr1751Ter)	BRCA2	Pathogenic	13	32913745	32913745	C	A	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5327dup (p.Leu1776fs)	BRCA2	Pathogenic	13	32913817	32913818	A	AT	reviewed by expert panel	-