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.718A>G (p.Ser240Gly)	TP53	Pathogenic/Likely pathogenic	17	7577563	7577563	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000546.6(TP53):c.314del (p.Gly105fs)	TP53	Pathogenic	17	7579373	7579373	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.184G>T (p.Glu62Ter)	TP53	Pathogenic	17	7579503	7579503	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.489C>G (p.Tyr163Ter)	TP53	Pathogenic	17	7578441	7578441	G	C	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.968_986del (p.Leu323fs)	TP53	Pathogenic	17	7576860	7576878	GGTGAAATATTCTCCATCCA	G	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.912dup (p.Lys305Ter)	TP53	Pathogenic	17	7577025	7577026	T	TA	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.839del (p.Arg280fs)	TP53	Pathogenic	17	7577099	7577099	TC	T	criteria provided, single submitter	-
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	-
Indel	NM_000546.6(TP53):c.557_559+2delinsGGGG	TP53	Likely pathogenic	17	7578369	7578373	ACCAT	CCCC	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.559+2del	TP53	Likely pathogenic	17	7578369	7578369	CA	C	criteria provided, single submitter	-