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.395A>G (p.Lys132Arg)	TP53	Pathogenic	17	7578535	7578535	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603045
single nucleotide variant	NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	TP53	Pathogenic/Likely pathogenic	17	7578536	7578536	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA002647
single nucleotide variant	NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	TP53	Likely pathogenic	17	7577565	7577565	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603054
single nucleotide variant	NM_000546.6(TP53):c.452C>G (p.Pro151Arg)	TP53	Pathogenic/Likely pathogenic	17	7578478	7578478	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603057
single nucleotide variant	NM_000546.6(TP53):c.451C>G (p.Pro151Ala)	TP53	Pathogenic	17	7578479	7578479	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603058
single nucleotide variant	NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	TP53	Pathogenic	17	7577106	7577106	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603060
single nucleotide variant	NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	TP53	Pathogenic	17	7578407	7578407	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603066
single nucleotide variant	NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	TP53	Pathogenic/Likely pathogenic	17	7577539	7577539	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603069
single nucleotide variant	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53	Pathogenic	17	7577120	7577120	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA001530
single nucleotide variant	NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	TP53	Pathogenic	17	7577121	7577121	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001542