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.797G>A (p.Gly266Glu)	TP53	Pathogenic/Likely pathogenic	17	7577141	7577141	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000421
single nucleotide variant	NM_000546.6(TP53):c.714T>G (p.Cys238Trp)	TP53	Pathogenic/Likely pathogenic	17	7577567	7577567	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000353
single nucleotide variant	NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	TP53	Pathogenic/Likely pathogenic	17	7578449	7578449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000234
single nucleotide variant	NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	TP53	Pathogenic/Likely pathogenic	17	7577559	7577559	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000357,UniProtKB:P04637#VAR_045217
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.375G>A (p.Thr125=)	TP53	Pathogenic	17	7579312	7579312	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000144
Deletion	NM_000546.6(TP53):c.1125del (p.Gln375fs)	TP53	Pathogenic	17	7572984	7572984	AC	A	criteria provided, single submitter	ClinGen:CA000041
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.842A>T (p.Asp281Val)	TP53	Pathogenic/Likely pathogenic	17	7577096	7577096	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000452,UniProtKB:P04637#VAR_006014