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	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.1265G>T (p.Gly422Val)	WT1	Likely pathogenic	11	32414301	32414301	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351790
single nucleotide variant	NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)	WT1	Pathogenic	11	32414251	32414251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016279,OMIM:607102.0026
single nucleotide variant	NM_024426.6(WT1):c.1447+4C>T	WT1	Pathogenic/Likely pathogenic	11	32413514	32413514	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016600,OMIM:607102.0018
single nucleotide variant	NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)	WT1	Pathogenic	11	32414263	32414263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016273,OMIM:607102.0014
single nucleotide variant	NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)	WT1	Likely pathogenic	11	32414269	32414269	A	C	criteria provided, single submitter	ClinGen:CA016265,OMIM:607102.0013
single nucleotide variant	NM_024426.6(WT1):c.1348C>T (p.His450Tyr)	WT1	Pathogenic/Likely pathogenic	11	32414218	32414218	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016298,OMIM:607102.0012
single nucleotide variant	NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)	WT1	Pathogenic	11	32413578	32413578	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016309,OMIM:607102.0010,OMIM:607102.0024
single nucleotide variant	NM_024426.6(WT1):c.1447+5G>A	WT1	Pathogenic	11	32413513	32413513	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016607,OMIM:607102.0009,OMIM:607102.0020
single nucleotide variant	NM_024426.6(WT1):c.1400G>C (p.Arg467Pro)	WT1	Pathogenic	11	32413565	32413565	C	G	criteria provided, single submitter	ClinGen:CA016330,OMIM:607102.0007