ウィルムス腫瘍

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.9649-1G>T	BRCA2	Pathogenic	13	32972298	32972298	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387765053
Insertion	NM_000059.4(BRCA2):c.6261_6262insGT (p.Thr2088fs)	BRCA2	Pathogenic	13	32914753	32914754	A	AGT	criteria provided, single submitter	ClinGen:CA658798130
Deletion	NC_000011.10:g.(?_32389058)_(32435345_?)del	WT1	Pathogenic	11	32410604	32456891	na	na	criteria provided, single submitter	-
Deletion	NM_024426.6(WT1):c.1149del (p.Val384fs)	WT1	Pathogenic	11	32417918	32417918	CA	C	criteria provided, single submitter	ClinGen:CA658797607
single nucleotide variant	NM_024426.6(WT1):c.478C>T (p.Gln160Ter)	WT1	Pathogenic	11	32456429	32456429	G	A	criteria provided, single submitter	ClinGen:CA379964944
Deletion	NC_000013.11:g.(?_32316455)_(32357935_?)del	BRCA2	Pathogenic	13	32890592	32932072	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32944533)_(32945243_?)dup	BRCA2	Likely pathogenic	13	32944533	32945243	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32329437)_(32341202_?)del	BRCA2	Pathogenic	13	32903574	32915339	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32356422)_(32356615_?)del	BRCA2	Pathogenic	13	32930559	32930752	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32376664)_(32376797_?)del	BRCA2	Pathogenic	13	32950801	32950934	na	na	criteria provided, single submitter	-