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.(?_7669599)_(8382320_?)del	TP53	Pathogenic	17	7572917	8285638	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7687606)_(7688293_?)del	TP53	Pathogenic	17	7590924	7591611	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	NM_000546.5(TP53):c.-202_-29+?del	TP53	Likely pathogenic	17	7590695	7590868	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	-
Deletion	NC_000017.11:g.(?_7669599)_(7676604_?)del	TP53	Pathogenic	17	7572917	7579922	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669603)_(7676600_?)del	TP53	Pathogenic	17	7572921	7579918	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_7578171)_(7579918_?)dup	TP53	Likely pathogenic	17	7578171	7579918	na	na	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.38dup (p.Leu14fs)	TP53	Pathogenic/Likely pathogenic	17	7579874	7579875	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656673
Deletion	NM_000546.6(TP53):c.45del (p.Gln16fs)	TP53	Pathogenic	17	7579868	7579868	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798710