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.97-2A>G	TP53	Pathogenic	17	7579592	7579592	T	C	criteria provided, single submitter	ClinGen:CA10584595
Deletion	NM_000546.5(TP53):c.-202_-29+?del	TP53	Likely pathogenic	17	7590695	7590868	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	TP53	Pathogenic/Likely pathogenic	17	7577547	7577547	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588670,UniProtKB:P04637#VAR_005971
Deletion	NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)	TP53	Pathogenic/Likely pathogenic	17	7579348	7579365	AGAAGCCCAGACGGAAACC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588673
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
Duplication	NM_000546.6(TP53):c.983dup (p.Thr329fs)	TP53	Pathogenic	17	7576862	7576863	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603410
single nucleotide variant	NM_000546.6(TP53):c.731G>A (p.Gly244Asp)	TP53	Pathogenic/Likely pathogenic	17	7577550	7577550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043048
Deletion	NM_000546.6(TP53):c.626_627del (p.Arg209fs)	TP53	Pathogenic	17	7578222	7578223	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043138
single nucleotide variant	NM_000546.6(TP53):c.746G>C (p.Arg249Thr)	TP53	Pathogenic	17	7577535	7577535	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602484
single nucleotide variant	NM_000546.6(TP53):c.518T>C (p.Val173Ala)	TP53	Pathogenic/Likely pathogenic	17	7578412	7578412	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602486