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.470T>C (p.Val157Ala)	TP53	Pathogenic/Likely pathogenic	17	7578460	7578460	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842041
single nucleotide variant	NM_000546.6(TP53):c.438G>A (p.Trp146Ter)	TP53	Pathogenic	17	7578492	7578492	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842363
Indel	NM_000546.6(TP53):c.403_405delinsGG (p.Cys135fs)	TP53	Pathogenic	17	7578525	7578527	GCA	CC	criteria provided, single submitter	ClinGen:CA645369689
single nucleotide variant	NM_000546.6(TP53):c.392A>T (p.Asn131Ile)	TP53	Pathogenic	17	7578538	7578538	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842926
single nucleotide variant	NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	TP53	Pathogenic	17	7578541	7578541	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842949
Duplication	NM_000546.6(TP53):c.323_329dup (p.Leu111fs)	TP53	Pathogenic	17	7579357	7579358	A	ACGGAAAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369686
Indel	NM_000546.6(TP53):c.324_328delinsAAAA (p.Phe109fs)	TP53	Pathogenic	17	7579359	7579363	GGAAA	TTTT	criteria provided, single submitter	ClinGen:CA645369687
Indel	NM_000546.6(TP53):c.326delinsCCCAA (p.Phe109fs)	TP53	Pathogenic	17	7579361	7579361	A	TTGGG	criteria provided, single submitter	ClinGen:CA645369688
single nucleotide variant	NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	TP53	Pathogenic/Likely pathogenic	17	7579374	7579374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397844735
Deletion	NM_000546.6(TP53):c.227_279del (p.Ala76fs)	TP53	Pathogenic	17	7579408	7579460	ACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTG	A	criteria provided, single submitter	ClinGen:CA645369690