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
Duplication	NM_000546.6(TP53):c.801dup (p.Asn268fs)	TP53	Pathogenic	17	7577136	7577137	T	TC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000546.6(TP53):c.812_815dup (p.Arg273fs)	TP53	Pathogenic	17	7577122	7577123	C	CACCT	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.848_867dup (p.Arg290fs)	TP53	Pathogenic	17	7577070	7577071	G	GGAGATTCTCTTCCTCTGTGC	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.901_902dup (p.Gly302fs)	TP53	Pathogenic	17	7577035	7577036	T	TGG	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.945del (p.Gln317fs)	TP53	Pathogenic	17	7576901	7576901	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.375+1G>T	TP53	Pathogenic/Likely pathogenic	17	7579311	7579311	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.559+2T>A	TP53	Pathogenic	17	7578369	7578369	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.673-2A>T	TP53	Pathogenic/Likely pathogenic	17	7577610	7577610	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.783-2A>C	TP53	Pathogenic	17	7577157	7577157	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.783-2A>T	TP53	Likely pathogenic	17	7577157	7577157	T	A	criteria provided, single submitter	-