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
Duplication	NM_000546.6(TP53):c.121_124dup (p.Asp42delinsGlyTer)	TP53	Pathogenic	17	7579562	7579563	T	TCATC	criteria provided, single submitter	ClinGen:CA658656662
single nucleotide variant	NM_000546.6(TP53):c.128T>A (p.Leu43Ter)	TP53	Likely pathogenic	17	7579559	7579559	A	T	criteria provided, single submitter	ClinGen:CA397846898
Indel	NM_000546.6(TP53):c.137delinsGT (p.Ser46fs)	TP53	Pathogenic	17	7579550	7579550	G	AC	criteria provided, single submitter	ClinGen:CA169169
Deletion	NM_000546.6(TP53):c.140del (p.Pro47fs)	TP53	Pathogenic	17	7579547	7579547	CG	C	criteria provided, multiple submitters, no conflicts	-
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
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
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.159G>A (p.Trp53Ter)	TP53	Pathogenic	17	7579528	7579528	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620640