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.3937del (p.Tyr1313fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912428	32912428	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912404	32912405	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1846del (p.Cys616fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907461	32907461	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32899272	32899272	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)	BRCA2	Pathogenic/Likely pathogenic	13	32899298	32899299	T	TCTAAATTC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1910-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32910401	32910401	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32945167	32945167	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918736	32918740	CAGGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912822	32912826	TAATAA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913739	32913739	T	G	criteria provided, multiple submitters, no conflicts	-