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.752T>G (p.Ile251Ser)	TP53	Likely pathogenic	17	7577529	7577529	A	C	criteria provided, single submitter	ClinGen:CA000396,UniProtKB:P04637#VAR_033038
single nucleotide variant	NM_000546.6(TP53):c.751A>C (p.Ile251Leu)	TP53	Pathogenic/Likely pathogenic	17	7577530	7577530	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000394,UniProtKB:P04637#VAR_045257
single nucleotide variant	NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	TP53	Pathogenic/Likely pathogenic	17	7577568	7577568	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000351,UniProtKB:P04637#VAR_005967
Deletion	NM_000546.6(TP53):c.685_692del (p.Cys229fs)	TP53	Pathogenic	17	7577589	7577596	GGTGGTACA	G	criteria provided, single submitter	ClinGen:CA000329
single nucleotide variant	NM_000546.6(TP53):c.646G>A (p.Val216Met)	TP53	Pathogenic/Likely pathogenic	17	7578203	7578203	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000308,UniProtKB:P04637#VAR_005956
single nucleotide variant	NM_000546.6(TP53):c.524G>T (p.Arg175Leu)	TP53	Pathogenic/Likely pathogenic	17	7578406	7578406	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000252,UniProtKB:P04637#VAR_005930
single nucleotide variant	NM_000546.6(TP53):c.493C>T (p.Gln165Ter)	TP53	Pathogenic	17	7578437	7578437	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000243
Duplication	NM_000546.6(TP53):c.455dup (p.Pro153fs)	TP53	Pathogenic	17	7578474	7578475	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA000202,OMIM:191170.0014
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
Duplication	NM_000546.6(TP53):c.216dup (p.Val73fs)	TP53	Pathogenic	17	7579470	7579471	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA000073,OMIM:191170.0016