リ・フラウメニ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.994-2A>G	TP53	Pathogenic	17	7574035	7574035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA287485766
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.994-1G>A	TP53	Pathogenic	17	7574034	7574034	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000528
single nucleotide variant	NM_000546.6(TP53):c.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.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.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.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>A (p.Arg337His)	TP53	Pathogenic/Likely pathogenic	17	7574017	7574017	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000013,UniProtKB:P04637#VAR_035016,OMIM:191170.0035
single nucleotide variant	NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)	TP53	Pathogenic	17	7574012	7574012	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397832685
Deletion	NM_000546.6(TP53):c.1018del (p.Met340fs)	TP53	Pathogenic	17	7574009	7574009	AT	A	criteria provided, single submitter	ClinGen:CA645369695