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	NC_000013.11:g.(?_32370936)_(32398790_?)del	BRCA2	Pathogenic	13	32945073	32972927	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32928978)_(32954302_?)dup	BRCA2	Likely pathogenic	13	32928978	32954302	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9117_9117+11del	BRCA2	Likely pathogenic	13	32954050	32954061	CGGTACAAACCTT	C	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	-
Deletion	NC_000013.11:g.(?_32330899)_(32380165_?)del	BRCA2	Pathogenic	13	32905036	32954302	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32371120_?)del	BRCA2	Pathogenic	13	32889617	32945257	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9772_9775del (p.Glu3258fs)	BRCA2	Pathogenic	13	32972421	32972424	AAGAG	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972322	32972322	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)	BRCA2	Pathogenic	13	32972317	32972317	G	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9444del (p.Ser3149fs)	BRCA2	Pathogenic	13	32969013	32969013	CT	C	criteria provided, multiple submitters, no conflicts	-