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
Deletion	NM_000546.6(TP53):c.445del (p.Ser149fs)	TP53	Pathogenic	17	7578485	7578485	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620632
Deletion	NM_000546.6(TP53):c.327_328del (p.Phe109fs)	TP53	Pathogenic/Likely pathogenic	17	7579359	7579360	CGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620636
Deletion	NM_000546.6(TP53):c.273_279del (p.Trp91fs)	TP53	Pathogenic/Likely pathogenic	17	7579408	7579414	ACAGGGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620638
Deletion	NM_000546.6(TP53):c.254del (p.Pro85fs)	TP53	Pathogenic	17	7579433	7579433	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620639
single nucleotide variant	NM_000546.6(TP53):c.159G>A (p.Trp53Ter)	TP53	Pathogenic	17	7579528	7579528	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620640
Deletion	NM_000546.6(TP53):c.1049_1050del (p.Leu350fs)	TP53	Pathogenic	17	7573977	7573978	TGA	T	criteria provided, single submitter	ClinGen:CA645369694
Deletion	NM_000546.6(TP53):c.1024del (p.Arg342fs)	TP53	Pathogenic	17	7574003	7574003	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA497712605
Deletion	NM_000546.6(TP53):c.1018del (p.Met340fs)	TP53	Pathogenic	17	7574009	7574009	AT	A	criteria provided, single submitter	ClinGen:CA645369695
single nucleotide variant	NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	TP53	Likely pathogenic	17	7574027	7574027	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397832878
Deletion	NM_000546.6(TP53):c.993+1del	TP53	Pathogenic	17	7576852	7576852	AC	A	reviewed by expert panel	ClinGen:CA645369685