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.9784C>T (p.Gln3262Ter)	BRCA2	Likely pathogenic	13	32972434	32972434	C	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)	BRCA2	Pathogenic	13	32972426	32972426	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>C	BRCA2	Pathogenic	13	32928997	32928997	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6841+1G>A	BRCA2	Likely pathogenic	13	32915334	32915334	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32362503)_(32398790_?)del	BRCA2	Pathogenic	13	32936640	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32329423)_(32398790_?)del	BRCA2	Pathogenic	13	32903560	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32319345_?)del	BRCA2	Pathogenic	13	32889617	32893482	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32354841)_(32357949_?)del	BRCA2	Likely pathogenic	13	32928978	32932086	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32326081)_(32326633_?)del	BRCA2	Pathogenic	13	32900218	32900770	na	na	criteria provided, single submitter	-
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	-