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.273G>A (p.Trp91Ter)	TP53	Pathogenic	17	7579414	7579414	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580953
Deletion	NM_000546.6(TP53):c.227_279del (p.Ala76fs)	TP53	Pathogenic	17	7579408	7579460	ACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTG	A	criteria provided, single submitter	ClinGen:CA645369690
Deletion	NM_000546.6(TP53):c.273_279del (p.Trp91fs)	TP53	Pathogenic/Likely pathogenic	17	7579408	7579414	ACAGGGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620638
Deletion	NM_000546.6(TP53):c.257_279del (p.Ala86fs)	TP53	Pathogenic	17	7579408	7579430	ACAGGGGCCAGGAGGGGGCTGGTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603324
Deletion	NM_000546.6(TP53):c.295del (p.Ser99fs)	TP53	Pathogenic	17	7579392	7579392	GA	G	criteria provided, single submitter	ClinGen:CA497925912
Deletion	NM_000546.6(TP53):c.294_297del (p.Ser99fs)	TP53	Pathogenic	17	7579390	7579393	GGGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000095
Deletion	NM_000546.6(TP53):c.298del (p.Gln100fs)	TP53	Pathogenic	17	7579389	7579389	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.298C>T (p.Gln100Ter)	TP53	Pathogenic/Likely pathogenic	17	7579389	7579389	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.310C>T (p.Gln104Ter)	TP53	Pathogenic	17	7579377	7579377	G	A	criteria provided, single submitter	-
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