ウィルムス腫瘍

腫瘍性疾患

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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.(?_32389058)_(32435345_?)del	WT1	Pathogenic	11	32410604	32456891	na	na	criteria provided, single submitter	-
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.334del (p.Asp112fs)	WT1	Pathogenic	11	32456573	32456573	TC	T	criteria provided, single submitter	ClinGen:CA658658040
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.543_556del (p.Tyr182fs)	WT1	Pathogenic	11	32456351	32456364	CCGAAGGGCCCGTAG	C	criteria provided, single submitter	ClinGen:CA658658039
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.1351A>C (p.Thr451Pro)	WT1	Likely pathogenic	11	32414215	32414215	T	G	criteria provided, single submitter	ClinGen:CA379959115
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
single nucleotide variant	NM_024426.6(WT1):c.512G>T (p.Gly171Val)	WT1	Likely pathogenic	11	32456395	32456395	C	A	criteria provided, single submitter	ClinGen:CA379964820
single nucleotide variant	NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)	WT1	Pathogenic/Likely pathogenic	11	32413565	32413565	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619314