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
single nucleotide variant	NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)	WT1	Pathogenic	11	32410674	32410674	C	T	criteria provided, single submitter	-
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.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.1421A>C (p.His474Pro)	WT1	Likely pathogenic	11	32413544	32413544	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)	WT1	Likely pathogenic	11	32413559	32413559	T	C	criteria provided, single submitter	ClinGen:CA016344,OMIM:607102.0005
single nucleotide variant	NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)	WT1	Pathogenic	11	32413560	32413560	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016338,OMIM:607102.0006
single nucleotide variant	NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)	WT1	Pathogenic/Likely pathogenic	11	32413560	32413560	C	A	criteria provided, multiple submitters, no conflicts	-
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
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
single nucleotide variant	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	WT1	Pathogenic	11	32413566	32413566	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016324,OMIM:607102.0003