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.845G>C (p.Arg282Pro)	TP53	Pathogenic/Likely pathogenic	17	7577093	7577093	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603074
single nucleotide variant	NM_000546.6(TP53):c.644G>T (p.Ser215Ile)	TP53	Pathogenic	17	7578205	7578205	C	A	criteria provided, single submitter	ClinGen:CA16603075
single nucleotide variant	NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	TP53	Pathogenic	17	7577559	7577559	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603078
single nucleotide variant	NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	TP53	Pathogenic	17	7577560	7577560	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603080
single nucleotide variant	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53	Pathogenic/Likely pathogenic	17	7579313	7579313	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044089
single nucleotide variant	NM_000546.6(TP53):c.517G>T (p.Val173Leu)	TP53	Pathogenic/Likely pathogenic	17	7578413	7578413	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603082
single nucleotide variant	NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)	TP53	Pathogenic	17	7578235	7578235	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603095
single nucleotide variant	NM_000546.6(TP53):c.613T>C (p.Tyr205His)	TP53	Pathogenic/Likely pathogenic	17	7578236	7578236	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603099
single nucleotide variant	NM_000546.6(TP53):c.658T>C (p.Tyr220His)	TP53	Pathogenic	17	7578191	7578191	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA002135
single nucleotide variant	NM_000546.6(TP53):c.700T>C (p.Tyr234His)	TP53	Pathogenic	17	7577581	7577581	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603104