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
single nucleotide variant	NM_000546.6(TP53):c.993+2T>G	TP53	Likely pathogenic	17	7576851	7576851	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.375+1G>A	TP53	Pathogenic/Likely pathogenic	17	7579311	7579311	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.560-1G>A	TP53	Pathogenic	17	7578290	7578290	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.782+1G>A	TP53	Pathogenic	17	7577498	7577498	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.783-1G>T	TP53	Pathogenic	17	7577156	7577156	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.993+1G>T	TP53	Pathogenic	17	7576852	7576852	C	A	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.298del (p.Gln100fs)	TP53	Pathogenic	17	7579389	7579389	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.298C>T (p.Gln100Ter)	TP53	Pathogenic/Likely pathogenic	17	7579389	7579389	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.314G>T (p.Gly105Val)	TP53	Likely pathogenic	17	7579373	7579373	C	A	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.371dup (p.Cys124fs)	TP53	Pathogenic	17	7579315	7579316	G	GC	criteria provided, single submitter	-