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
Deletion	NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del)	TP53	Likely pathogenic	17	7578184	7578192	CGGCTCATAG	C	criteria provided, single submitter	ClinGen:CA10580930
single nucleotide variant	NM_000546.6(TP53):c.401T>G (p.Phe134Cys)	TP53	Likely pathogenic	17	7578529	7578529	A	C	criteria provided, single submitter	ClinGen:CA002638,UniProtKB:P04637#VAR_044749
single nucleotide variant	NM_000546.6(TP53):c.981T>G (p.Tyr327Ter)	TP53	Likely pathogenic	17	7576865	7576865	A	C	criteria provided, single submitter	ClinGen:CA10584585
single nucleotide variant	NM_000546.6(TP53):c.538G>A (p.Glu180Lys)	TP53	Likely pathogenic	17	7578392	7578392	C	T	reviewed by expert panel	ClinGen:CA10584590,UniProtKB:P04637#VAR_044943
single nucleotide variant	NM_000546.6(TP53):c.473G>C (p.Arg158Pro)	TP53	Likely pathogenic	17	7578457	7578457	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584592,UniProtKB:P04637#VAR_044848
Deletion	NM_000546.5(TP53):c.-202_-29+?del	TP53	Likely pathogenic	17	7590695	7590868	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	TP53	Likely pathogenic	17	7578527	7578527	A	C	reviewed by expert panel	ClinGen:CA16602989
single nucleotide variant	NM_000546.6(TP53):c.641A>G (p.His214Arg)	TP53	Likely pathogenic	17	7578208	7578208	T	C	reviewed by expert panel	ClinGen:CA16040595
single nucleotide variant	NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	TP53	Likely pathogenic	17	7578534	7578534	C	G	reviewed by expert panel	ClinGen:CA16603044
single nucleotide variant	NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	TP53	Likely pathogenic	17	7577565	7577565	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603054