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.559+1G>T	TP53	Pathogenic/Likely pathogenic	17	7578370	7578370	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.97-1G>T	TP53	Pathogenic/Likely pathogenic	17	7579591	7579591	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.375+1G>C	TP53	Pathogenic/Likely pathogenic	17	7579311	7579311	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.375+1G>T	TP53	Pathogenic/Likely pathogenic	17	7579311	7579311	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.673-2A>T	TP53	Pathogenic/Likely pathogenic	17	7577610	7577610	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.375+1G>A	TP53	Pathogenic/Likely pathogenic	17	7579311	7579311	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.298C>T (p.Gln100Ter)	TP53	Pathogenic/Likely pathogenic	17	7579389	7579389	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.396G>T (p.Lys132Asn)	TP53	Pathogenic/Likely pathogenic	17	7578534	7578534	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.672+1G>T	TP53	Pathogenic/Likely pathogenic	17	7578176	7578176	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.718A>G (p.Ser240Gly)	TP53	Pathogenic/Likely pathogenic	17	7577563	7577563	T	C	criteria provided, multiple submitters, no conflicts	-