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_005612.5(REST):c.2413del (p.Leu805fs)	REST	Likely pathogenic	4	57797434	57797434	TC	T	criteria provided, single submitter	ClinGen:CA645372752,OMIM:600571.0006
single nucleotide variant	NM_005612.5(REST):c.2227G>T (p.Glu743Ter)	REST	Pathogenic	4	57797251	57797251	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_005612.5(REST):c.1310T>A (p.Leu437Ter)	REST	Likely pathogenic	4	57796334	57796334	T	A	criteria provided, single submitter	ClinGen:CA357006327,OMIM:600571.0005
Deletion	NM_005612.5(REST):c.831_832del (p.Cys278fs)	REST	Pathogenic	4	57777635	57777636	CAT	C	criteria provided, single submitter	ClinGen:CA351626,OMIM:600571.0001
Duplication	NM_005612.5(REST):c.265dup (p.Glu89fs)	REST	Pathogenic	4	57777068	57777069	A	AG	criteria provided, single submitter	-
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.(?_32370936)_(32398790_?)del	BRCA2	Pathogenic	13	32945073	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32398790_?)del	BRCA2	Pathogenic	13	32889617	32972927	na	na	criteria provided, single submitter	-
Deletion	NG_012772.3:g.(?_5001)_(88292_?)del	BRCA2	Pathogenic	13	32889617	32972908	na	na	criteria provided, single submitter	-