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.919+1G>A	TP53	Likely pathogenic	17	7577018	7577018	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000546.6(TP53):c.1045G>T (p.Glu349Ter)	TP53	Pathogenic	17	7573982	7573982	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.1036G>T (p.Glu346Ter)	TP53	Pathogenic	17	7573991	7573991	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.856G>T (p.Glu286Ter)	TP53	Pathogenic	17	7577082	7577082	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53	Pathogenic	17	7577121	7577121	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000546.6(TP53):c.714dup (p.Asn239Ter)	TP53	Pathogenic	17	7577566	7577567	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.711G>T (p.Met237Ile)	TP53	Likely pathogenic	17	7577570	7577570	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.695T>G (p.Ile232Ser)	TP53	Pathogenic	17	7577586	7577586	A	C	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.665del (p.Pro222fs)	TP53	Pathogenic	17	7578184	7578184	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.661G>T (p.Glu221Ter)	TP53	Pathogenic	17	7578188	7578188	C	A	criteria provided, single submitter	-