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.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
Deletion	NM_000546.6(TP53):c.216del (p.Val73fs)	TP53	Pathogenic	17	7579471	7579471	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA497925988
Duplication	NM_000546.6(TP53):c.216dup (p.Val73fs)	TP53	Pathogenic	17	7579470	7579471	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA000073,OMIM:191170.0016
Deletion	NM_000546.6(TP53):c.248_249del (p.Ala83fs)	TP53	Pathogenic	17	7579438	7579439	CCG	C	criteria provided, single submitter	ClinGen:CA645369691
Deletion	NM_000546.6(TP53):c.250del (p.Ala84fs)	TP53	Pathogenic	17	7579437	7579437	GC	G	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.254del (p.Pro85fs)	TP53	Pathogenic	17	7579433	7579433	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620639
Deletion	NM_000546.6(TP53):c.247_256del (p.Ala83fs)	TP53	Pathogenic	17	7579431	7579440	GCAGGGGCCGC	G	criteria provided, single submitter	-