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.714del (p.Met237_Cys238insTer)	TP53	Pathogenic	17	7577567	7577567	TA	T	criteria provided, single submitter	ClinGen:CA658656525
single nucleotide variant	NM_000546.6(TP53):c.96+1G>T	TP53	Pathogenic/Likely pathogenic	17	7579699	7579699	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848251
Deletion	NM_000546.6(TP53):c.950del (p.Gln317fs)	TP53	Pathogenic	17	7576896	7576896	CT	C	criteria provided, single submitter	ClinGen:CA645587369
Deletion	NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del)	TP53	Likely pathogenic	17	7577092	7577100	GCCGGTCTCT	G	criteria provided, single submitter	ClinGen:CA658656537
Deletion	NM_000546.6(TP53):c.754del (p.Leu252fs)	TP53	Pathogenic	17	7577527	7577527	AG	A	criteria provided, single submitter	ClinGen:CA497717227
single nucleotide variant	NM_000546.6(TP53):c.738G>A (p.Met246Ile)	TP53	Pathogenic/Likely pathogenic	17	7577543	7577543	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA287487993
single nucleotide variant	NM_000546.6(TP53):c.712T>A (p.Cys238Ser)	TP53	Pathogenic	17	7577569	7577569	A	T	criteria provided, single submitter	ClinGen:CA397839198
single nucleotide variant	NM_000546.6(TP53):c.400T>A (p.Phe134Ile)	TP53	Pathogenic	17	7578530	7578530	A	T	criteria provided, single submitter	ClinGen:CA397842840
single nucleotide variant	NM_000546.6(TP53):c.376-1G>A	TP53	Pathogenic	17	7578555	7578555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA287488727
single nucleotide variant	NM_000546.6(TP53):c.375+2T>G	TP53	Likely pathogenic	17	7579310	7579310	A	C	criteria provided, single submitter	ClinGen:CA397844129