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.97-11C>G	TP53	Pathogenic	17	7579601	7579601	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.97-2A>G	TP53	Pathogenic	17	7579592	7579592	T	C	criteria provided, single submitter	ClinGen:CA10584595
single nucleotide variant	NM_000546.6(TP53):c.97-1G>T	TP53	Pathogenic/Likely pathogenic	17	7579591	7579591	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.97-1G>A	TP53	Likely pathogenic	17	7579591	7579591	C	T	reviewed by expert panel	-
Duplication	NM_000546.6(TP53):c.97dup (p.Ser33fs)	TP53	Pathogenic	17	7579589	7579590	G	GA	criteria provided, single submitter	ClinGen:CA645369697
Deletion	NM_000546.6(TP53):c.112del (p.Gln38fs)	TP53	Pathogenic	17	7579575	7579575	TG	T	criteria provided, single submitter	ClinGen:CA645589425
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	-