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.892G>T (p.Glu298Ter)	TP53	Pathogenic	17	7577046	7577046	C	A	reviewed by expert panel	ClinGen:CA000484
single nucleotide variant	NM_000546.6(TP53):c.736A>G (p.Met246Val)	TP53	Pathogenic	17	7577545	7577545	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000374,UniProtKB:P04637#VAR_005978
Deletion	NM_000546.6(TP53):c.328del (p.Arg110fs)	TP53	Pathogenic	17	7579359	7579359	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000120
single nucleotide variant	NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)	TP53	Pathogenic	17	7578442	7578442	T	C	reviewed by expert panel	ClinGen:CA000240,UniProtKB:P04637#VAR_033035
single nucleotide variant	NM_000546.6(TP53):c.535C>T (p.His179Tyr)	TP53	Pathogenic/Likely pathogenic	17	7578395	7578395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000256,UniProtKB:P04637#VAR_044939
single nucleotide variant	NM_000546.6(TP53):c.580C>T (p.Leu194Phe)	TP53	Pathogenic/Likely pathogenic	17	7578269	7578269	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000278,UniProtKB:P04637#VAR_044997
single nucleotide variant	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53	Pathogenic	17	7578190	7578190	T	C	reviewed by expert panel	ClinGen:CA000315,UniProtKB:P04637#VAR_005957
single nucleotide variant	NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	TP53	Pathogenic/Likely pathogenic	17	7577580	7577580	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000337,UniProtKB:P04637#VAR_005963
Deletion	NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)	TP53	Pathogenic	17	7578471	7578482	CGGGCGGGGGTGT	C	criteria provided, single submitter	ClinGen:CA000194
single nucleotide variant	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	TP53	Pathogenic	17	7578211	7578211	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000302,UniProtKB:P04637#VAR_005955