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.151G>T (p.Glu51Ter)	TP53	Pathogenic	17	7579536	7579536	C	A	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.155_156del (p.Gln52fs)	TP53	Pathogenic	17	7579531	7579532	ATT	A	criteria provided, single submitter	ClinGen:CA658798707
Duplication	NM_000546.6(TP53):c.156dup (p.Trp53fs)	TP53	Pathogenic	17	7579530	7579531	A	AT	criteria provided, single submitter	ClinGen:CA645589403
Duplication	NM_000546.6(TP53):c.155_157dup (p.Trp53Ter)	TP53	Pathogenic	17	7579529	7579530	C	CATT	criteria provided, single submitter	ClinGen:CA168994
single nucleotide variant	NM_000546.6(TP53):c.158G>A (p.Trp53Ter)	TP53	Pathogenic	17	7579529	7579529	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580959
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
single nucleotide variant	NM_000546.6(TP53):c.184G>T (p.Glu62Ter)	TP53	Pathogenic	17	7579503	7579503	C	A	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.196dup (p.Met66fs)	TP53	Pathogenic	17	7579490	7579491	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.202G>T (p.Glu68Ter)	TP53	Pathogenic	17	7579485	7579485	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353535
Insertion	NM_000546.6(TP53):c.214_215insG (p.Pro72fs)	TP53	Pathogenic	17	7579472	7579473	G	GC	criteria provided, single submitter	ClinGen:CA645369692