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.638G>C (p.Arg213Pro)	TP53	Pathogenic/Likely pathogenic	17	7578211	7578211	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580932,UniProtKB:P04637#VAR_036506
single nucleotide variant	NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	TP53	Pathogenic/Likely pathogenic	17	7578262	7578262	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580934,UniProtKB:P04637#VAR_045007
single nucleotide variant	NM_000546.6(TP53):c.577C>T (p.His193Tyr)	TP53	Pathogenic/Likely pathogenic	17	7578272	7578272	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580936,UniProtKB:P04637#VAR_044996
Deletion	NM_000546.6(TP53):c.454_466del (p.Pro152fs)	TP53	Pathogenic	17	7578464	7578476	CGGGTGCCGGGCGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580942
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.329G>C (p.Arg110Pro)	TP53	Pathogenic	17	7579358	7579358	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580948,UniProtKB:P04637#VAR_005862
single nucleotide variant	NM_000546.6(TP53):c.273G>A (p.Trp91Ter)	TP53	Pathogenic	17	7579414	7579414	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580953
single nucleotide variant	NM_000546.6(TP53):c.158G>A (p.Trp53Ter)	TP53	Pathogenic	17	7579529	7579529	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580959
Deletion	NM_000546.6(TP53):c.52del (p.Thr18fs)	TP53	Pathogenic	17	7579861	7579861	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580965