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
single nucleotide variant	NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	TP53	Pathogenic	17	7577581	7577581	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603105
single nucleotide variant	NM_000546.6(TP53):c.993+1G>C	TP53	Pathogenic/Likely pathogenic	17	7576852	7576852	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607519
single nucleotide variant	NM_000546.6(TP53):c.673-1G>A	TP53	Pathogenic	17	7577609	7577609	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607882
single nucleotide variant	NM_000546.6(TP53):c.880G>T (p.Glu294Ter)	TP53	Pathogenic	17	7577058	7577058	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608665
single nucleotide variant	NM_000546.6(TP53):c.325T>G (p.Phe109Val)	TP53	Likely pathogenic	17	7579362	7579362	A	C	criteria provided, single submitter	ClinGen:CA16608667
Deletion	NC_000017.11:g.(?_7668402)_(7669690_?)del	TP53	Likely pathogenic	17	7571720	7573008	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.920-1G>C	TP53	Pathogenic	17	7576927	7576927	C	G	criteria provided, single submitter	ClinGen:CA16615686
single nucleotide variant	NM_000546.6(TP53):c.574C>T (p.Gln192Ter)	TP53	Pathogenic	17	7578275	7578275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615700
single nucleotide variant	NM_000546.6(TP53):c.783-2A>G	TP53	Pathogenic	17	7577157	7577157	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615702
single nucleotide variant	NM_000546.6(TP53):c.537T>A (p.His179Gln)	TP53	Pathogenic	17	7578393	7578393	A	T	reviewed by expert panel	ClinGen:CA16615708