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.1024del (p.Arg342fs)	TP53	Pathogenic	17	7574003	7574003	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA497712605
single nucleotide variant	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53	Pathogenic	17	7574003	7574003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000019
single nucleotide variant	NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	TP53	Pathogenic/Likely pathogenic	17	7574002	7574002	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337802,UniProtKB:P04637#VAR_045544
single nucleotide variant	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53	Likely pathogenic	17	7573996	7573996	A	G	reviewed by expert panel	ClinGen:CA000021,UniProtKB:P04637#VAR_045546,OMIM:191170.0031
single nucleotide variant	NM_000546.6(TP53):c.1036G>T (p.Glu346Ter)	TP53	Pathogenic	17	7573991	7573991	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	TP53	Likely pathogenic	17	7573987	7573987	G	T	reviewed by expert panel	ClinGen:CA000022
Indel	NM_000546.6(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer)	TP53	Pathogenic	17	7573976	7573984	TGAGTTCCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.1045G>T (p.Glu349Ter)	TP53	Pathogenic	17	7573982	7573982	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000546.6(TP53):c.1049_1050del (p.Leu350fs)	TP53	Pathogenic	17	7573977	7573978	TGA	T	criteria provided, single submitter	ClinGen:CA645369694
single nucleotide variant	NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)	TP53	Likely pathogenic	17	7573967	7573967	G	A	criteria provided, single submitter	ClinGen:CA397832178