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	NC_000011.10:g.(?_32396251)_(32417660_?)del	WT1	Pathogenic	11	32417797	32439206	na	na	criteria provided, single submitter	-
Deletion	NM_024426.6(WT1):c.1149del (p.Val384fs)	WT1	Pathogenic	11	32417918	32417918	CA	C	criteria provided, single submitter	ClinGen:CA658797607
single nucleotide variant	NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)	WT1	Pathogenic	11	32417947	32417947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA379960070
single nucleotide variant	NM_024426.6(WT1):c.965+1G>A	WT1	Pathogenic/Likely pathogenic	11	32439122	32439122	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)	WT1	Pathogenic	11	32449507	32449507	G	T	criteria provided, single submitter	-
Deletion	NM_024426.6(WT1):c.812del (p.Pro271fs)	WT1	Pathogenic	11	32449577	32449577	CG	C	criteria provided, single submitter	ClinGen:CA16613560
single nucleotide variant	NM_024426.6(WT1):c.699C>A (p.Tyr233Ter)	WT1	Likely pathogenic	11	32450128	32450128	G	T	criteria provided, single submitter	ClinGen:CA379963503
Duplication	NM_024426.6(WT1):c.682dup (p.Asp228fs)	WT1	Pathogenic	11	32450144	32450145	T	TC	criteria provided, single submitter	ClinGen:CA658658038
Deletion	NM_024426.6(WT1):c.653del (p.Arg218fs)	WT1	Pathogenic	11	32456254	32456254	GC	G	criteria provided, single submitter	-
Deletion	NM_024426.6(WT1):c.543_556del (p.Tyr182fs)	WT1	Pathogenic	11	32456351	32456364	CCGAAGGGCCCGTAG	C	criteria provided, single submitter	ClinGen:CA658658039