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_005612.5(REST):c.831_832del (p.Cys278fs)	REST	Pathogenic	4	57777635	57777636	CAT	C	criteria provided, single submitter	ClinGen:CA351626,OMIM:600571.0001
single nucleotide variant	NM_005612.5(REST):c.1310T>A (p.Leu437Ter)	REST	Likely pathogenic	4	57796334	57796334	T	A	criteria provided, single submitter	ClinGen:CA357006327,OMIM:600571.0005
Deletion	NM_005612.5(REST):c.2413del (p.Leu805fs)	REST	Likely pathogenic	4	57797434	57797434	TC	T	criteria provided, single submitter	ClinGen:CA645372752,OMIM:600571.0006
single nucleotide variant	NM_005612.5(REST):c.2227G>T (p.Glu743Ter)	REST	Pathogenic	4	57797251	57797251	G	T	criteria provided, single submitter	-
Duplication	NM_005612.5(REST):c.265dup (p.Glu89fs)	REST	Pathogenic	4	57777068	57777069	A	AG	criteria provided, single submitter	-
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
single nucleotide variant	NM_024426.6(WT1):c.1316G>A (p.Arg439His)	WT1	Pathogenic	11	32414250	32414250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016285,OMIM:607102.0004
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.1400G>C (p.Arg467Pro)	WT1	Pathogenic	11	32413565	32413565	C	G	criteria provided, single submitter	ClinGen:CA016330,OMIM:607102.0007