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.5386_5387del (p.Asp1796fs)	BRCA2	Pathogenic	13	32913877	32913878	AAG	A	reviewed by expert panel	ClinGen:CA022186
Deletion	NM_000059.4(BRCA2):c.5470_5471del (p.Asn1824fs)	BRCA2	Pathogenic	13	32913959	32913960	TAA	T	reviewed by expert panel	ClinGen:CA022385
Duplication	NM_000059.4(BRCA2):c.1447dup (p.Ala483fs)	BRCA2	Pathogenic	13	32907061	32907062	T	TG	reviewed by expert panel	ClinGen:CA169014
single nucleotide variant	NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter)	BRCA2	Pathogenic	13	32911904	32911904	C	T	reviewed by expert panel	ClinGen:CA017964
Deletion	NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs)	BRCA2	Pathogenic	13	32915194	32915195	TTA	T	reviewed by expert panel	ClinGen:CA024310
Deletion	NM_000059.4(BRCA2):c.3358del (p.Glu1120fs)	BRCA2	Pathogenic	13	32911850	32911850	AG	A	reviewed by expert panel	ClinGen:CA017851
Duplication	NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs)	BRCA2	Pathogenic	13	32914582	32914583	T	TA	reviewed by expert panel	ClinGen:CA169406
single nucleotide variant	NM_000059.4(BRCA2):c.8332-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32944537	32944537	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025585
Deletion	NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)	BRCA2	Pathogenic	13	32910551	32910555	TGATTA	T	reviewed by expert panel	ClinGen:CA014250
Deletion	NM_000059.4(BRCA2):c.6226_6229del (p.Val2076fs)	BRCA2	Pathogenic	13	32914717	32914720	AAGTT	A	reviewed by expert panel	ClinGen:CA023774