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.1010G>T (p.Arg337Leu)	TP53	Likely pathogenic	17	7574017	7574017	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000015,UniProtKB:P04637#VAR_045537
single nucleotide variant	NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	TP53	Likely pathogenic	17	7574017	7574017	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000014,UniProtKB:P04637#VAR_045538
single nucleotide variant	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	TP53	Pathogenic/Likely pathogenic	17	7574018	7574018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000010,UniProtKB:P04637#VAR_006041
single nucleotide variant	NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	TP53	Likely pathogenic	17	7574027	7574027	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397832878
single nucleotide variant	NM_000546.6(TP53):c.994-1G>A	TP53	Pathogenic	17	7574034	7574034	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000528
single nucleotide variant	NM_000546.6(TP53):c.994-1G>C	TP53	Pathogenic	17	7574034	7574034	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580906
single nucleotide variant	NM_000546.6(TP53):c.994-2A>G	TP53	Pathogenic	17	7574035	7574035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA287485766
Deletion	NC_000017.11:g.(?_7669603)_(7670721_?)del	TP53	Likely pathogenic	17	7572921	7574039	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.993+2T>G	TP53	Likely pathogenic	17	7576851	7576851	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.993+1G>C	TP53	Pathogenic/Likely pathogenic	17	7576852	7576852	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607519