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.378C>G (p.Tyr126Ter)	TP53	Pathogenic/Likely pathogenic	17	7578552	7578552	G	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)	TP53	Pathogenic/Likely pathogenic	17	7578456	7578457	GC	AA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.814G>C (p.Val272Leu)	TP53	Pathogenic/Likely pathogenic	17	7577124	7577124	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000546.6(TP53):c.375+1dup	TP53	Pathogenic/Likely pathogenic	17	7579310	7579311	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798706
Deletion	NM_000546.6(TP53):c.917_919+10del	TP53	Pathogenic/Likely pathogenic	17	7577009	7577021	TGCTTGCTTACCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798699
single nucleotide variant	NM_000546.6(TP53):c.993+1G>A	TP53	Pathogenic/Likely pathogenic	17	7576852	7576852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397835645
single nucleotide variant	NM_000546.6(TP53):c.375+2T>A	TP53	Pathogenic/Likely pathogenic	17	7579310	7579310	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397844133
single nucleotide variant	NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	TP53	Pathogenic/Likely pathogenic	17	7578431	7578431	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397841811
Duplication	NM_000546.6(TP53):c.38dup (p.Leu14fs)	TP53	Pathogenic/Likely pathogenic	17	7579874	7579875	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656673
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