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
Duplication	NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs)	BRCA2	Pathogenic/Likely pathogenic	13	32915315	32915316	G	GAGCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798090
single nucleotide variant	NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913763	32913763	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784744
Deletion	NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)	BRCA2	Pathogenic/Likely pathogenic	13	32954280	32954280	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683861
Duplication	NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953565	32953566	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683851
Deletion	NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912230	32912233	ATATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683869
Deletion	NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905091	32905092	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683831
Duplication	NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913691	32913692	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683841
single nucleotide variant	NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32906817	32906817	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387762066
single nucleotide variant	NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929409	32929409	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387741973
Deletion	NM_000059.4(BRCA2):c.2176del (p.Val726fs)	BRCA2	Pathogenic/Likely pathogenic	13	32910668	32910668	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683818