リ・フラウメニ症候群

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
Indel	NM_000546.6(TP53):c.492_493delinsCT (p.Lys164_Gln165delinsAsnTer)	TP53	Pathogenic	17	7578437	7578438	GC	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.151G>T (p.Glu51Ter)	TP53	Pathogenic	17	7579536	7579536	C	A	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.917_919+6del	TP53	Pathogenic	17	7577013	7577021	TGCTTACCTC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.310C>T (p.Gln104Ter)	TP53	Pathogenic	17	7579377	7579377	G	A	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.140del (p.Pro47fs)	TP53	Pathogenic	17	7579547	7579547	CG	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000546.6(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer)	TP53	Pathogenic	17	7573976	7573984	TGAGTTCCA	C	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.949del (p.Gln317fs)	TP53	Pathogenic	17	7576897	7576897	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.814G>C (p.Val272Leu)	TP53	Pathogenic/Likely pathogenic	17	7577124	7577124	C	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)	TP53	Pathogenic/Likely pathogenic	17	7578456	7578457	GC	AA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	TP53	Pathogenic/Likely pathogenic	17	7578552	7578552	G	C	criteria provided, multiple submitters, no conflicts	-