リ・フラウメニ症候群

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
Deletion	NC_000017.11:g.(?_7669603)_(7670721_?)del	TP53	Likely pathogenic	17	7572921	7574039	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669599)_(7688293_?)del	TP53	Pathogenic	17	7572917	7591611	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669599)_(8382320_?)del	TP53	Pathogenic	17	7572917	8285638	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669599)_(7676604_?)del	TP53	Pathogenic	17	7572917	7579922	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7668402)_(7669690_?)del	TP53	Likely pathogenic	17	7571720	7573008	na	na	criteria provided, single submitter	-
Deletion	NM_000546.5(TP53):c.-202_*1207del	TP53	Pathogenic	17	7571720	7590868	na	na	criteria provided, single submitter	-
Duplication	NM_000546.5(TP53):c.2588dup	TP53	Pathogenic	17	7571520	7571521	T	TC	criteria provided, single submitter	ClinGen:CA645372603