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.990_993del (p.Gln331fs)	TP53	Pathogenic	17	7576853	7576856	CCTGA	C	criteria provided, single submitter	ClinGen:CA658656523
Duplication	NM_000546.6(TP53):c.870dup (p.Lys291fs)	TP53	Pathogenic	17	7577067	7577068	T	TG	criteria provided, single submitter	ClinGen:CA645588334
single nucleotide variant	NM_000546.6(TP53):c.783-1G>A	TP53	Pathogenic	17	7577156	7577156	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397837303
single nucleotide variant	NM_000546.6(TP53):c.731G>C (p.Gly244Ala)	TP53	Pathogenic	17	7577550	7577550	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA287488006
Deletion	NM_000546.6(TP53):c.715_724del (p.Asn239fs)	TP53	Pathogenic	17	7577557	7577566	CAGGAACTGTT	C	criteria provided, single submitter	ClinGen:CA658656524
single nucleotide variant	NM_000546.6(TP53):c.476C>T (p.Ala159Val)	TP53	Pathogenic/Likely pathogenic	17	7578454	7578454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842017
Deletion	NM_000546.6(TP53):c.112del (p.Gln38fs)	TP53	Pathogenic	17	7579575	7579575	TG	T	criteria provided, single submitter	ClinGen:CA645589425
Deletion	NM_000546.6(TP53):c.848_857del (p.Arg283fs)	TP53	Pathogenic	17	7577081	7577090	TTCCTCTGTGC	T	criteria provided, single submitter	ClinGen:CA658656535
single nucleotide variant	NM_000546.6(TP53):c.673-2A>G	TP53	Pathogenic	17	7577610	7577610	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA397839547
single nucleotide variant	NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	TP53	Pathogenic/Likely pathogenic	17	7578400	7578400	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA002428