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.906del (p.Ser303fs)	TP53	Pathogenic	17	7577032	7577032	TC	T	criteria provided, single submitter	ClinGen:CA000489
single nucleotide variant	NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	TP53	Pathogenic	17	7577082	7577082	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000464,UniProtKB:P04637#VAR_006029
single nucleotide variant	NM_000546.6(TP53):c.827C>G (p.Ala276Gly)	TP53	Pathogenic	17	7577111	7577111	G	C	criteria provided, single submitter	ClinGen:CA000436,UniProtKB:P04637#VAR_045367
single nucleotide variant	NM_000546.6(TP53):c.814G>A (p.Val272Met)	TP53	Pathogenic	17	7577124	7577124	C	T	reviewed by expert panel	ClinGen:CA000427,UniProtKB:P04637#VAR_045354
Deletion	NM_000546.6(TP53):c.651_666del (p.Val218fs)	TP53	Pathogenic	17	7578183	7578198	GCGGCTCATAGGGCACC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000310
single nucleotide variant	NM_000546.6(TP53):c.615T>A (p.Tyr205Ter)	TP53	Pathogenic	17	7578234	7578234	A	T	criteria provided, single submitter	ClinGen:CA000298
single nucleotide variant	NM_000546.6(TP53):c.578A>G (p.His193Arg)	TP53	Pathogenic/Likely pathogenic	17	7578271	7578271	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000274,UniProtKB:P04637#VAR_005948
single nucleotide variant	NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	TP53	Pathogenic	17	7578403	7578403	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000254,UniProtKB:P04637#VAR_044921
Duplication	NM_000546.6(TP53):c.511_515dup (p.Val173fs)	TP53	Pathogenic	17	7578414	7578415	A	AACCTC	criteria provided, single submitter	ClinGen:CA193181
Deletion	NM_000546.6(TP53):c.394_409del (p.Lys132fs)	TP53	Pathogenic	17	7578521	7578536	AGTTGGCAAAACATCTT	A	criteria provided, single submitter	ClinGen:CA000156