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.96+1G>T	TP53	Pathogenic/Likely pathogenic	17	7579699	7579699	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848251
single nucleotide variant	NM_000546.6(TP53):c.434T>A (p.Leu145Gln)	TP53	Pathogenic/Likely pathogenic	17	7578496	7578496	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842430
single nucleotide variant	NM_000546.6(TP53):c.376-2A>T	TP53	Pathogenic/Likely pathogenic	17	7578556	7578556	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397843977
single nucleotide variant	NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	TP53	Pathogenic/Likely pathogenic	17	7578400	7578400	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA002428
single nucleotide variant	NM_000546.6(TP53):c.476C>T (p.Ala159Val)	TP53	Pathogenic/Likely pathogenic	17	7578454	7578454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842017
single nucleotide variant	NM_000546.6(TP53):c.949C>T (p.Gln317Ter)	TP53	Pathogenic/Likely pathogenic	17	7576897	7576897	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397835973
single nucleotide variant	NM_000546.6(TP53):c.375+2T>C	TP53	Pathogenic/Likely pathogenic	17	7579310	7579310	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397844132
single nucleotide variant	NM_000546.6(TP53):c.96+1G>C	TP53	Pathogenic/Likely pathogenic	17	7579699	7579699	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848258
single nucleotide variant	NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	TP53	Pathogenic/Likely pathogenic	17	7579374	7579374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397844735
single nucleotide variant	NM_000546.6(TP53):c.470T>C (p.Val157Ala)	TP53	Pathogenic/Likely pathogenic	17	7578460	7578460	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842041