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_000059.4(BRCA2):c.476-4_476-1del	BRCA2	Pathogenic	13	32900375	32900378	CCCAG	C	criteria provided, single submitter	ClinGen:CA10602519
single nucleotide variant	NM_000059.4(BRCA2):c.476-2A>C	BRCA2	Pathogenic	13	32900377	32900377	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602520
single nucleotide variant	NM_000059.4(BRCA2):c.516+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32900420	32900420	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602521
Deletion	NM_000059.4(BRCA2):c.516+1del	BRCA2	Pathogenic	13	32900419	32900419	AG	A	criteria provided, single submitter	ClinGen:CA10602522
single nucleotide variant	NM_000059.4(BRCA2):c.517-1G>T	BRCA2	Pathogenic	13	32900635	32900635	G	T	criteria provided, single submitter	ClinGen:CA10602523
single nucleotide variant	NM_000059.4(BRCA2):c.631+2T>A	BRCA2	Pathogenic/Likely pathogenic	13	32900752	32900752	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602524
Deletion	NM_000059.4(BRCA2):c.632-2del	BRCA2	Pathogenic	13	32903578	32903578	CA	C	criteria provided, single submitter	ClinGen:CA10602525
single nucleotide variant	NM_000059.4(BRCA2):c.682-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32905054	32905054	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602526
single nucleotide variant	NM_000059.4(BRCA2):c.793+2T>G	BRCA2	Pathogenic	13	32905169	32905169	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602527
Indel	NM_000059.3(BRCA2):c.891_898delAACAGTTGins10 (p.?)	BRCA2	Pathogenic	13	32906506	32906513	na	na	criteria provided, single submitter	-