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_000059.4(BRCA2):c.7007+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32921035	32921035	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7976+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32936831	32936831	G	T	criteria provided, multiple submitters, no conflicts	-
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	-
Deletion	NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972322	32972322	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953637	32953640	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912092	32912092	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972419	32972420	GAA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32930696	32930697	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929413	32929413	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913413	32913413	G	T	criteria provided, multiple submitters, no conflicts	-