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.1010G>C (p.Arg337Pro)	TP53	Likely pathogenic	17	7574017	7574017	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000014,UniProtKB:P04637#VAR_045538
single nucleotide variant	NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)	TP53	Likely pathogenic	17	7574017	7574017	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000015,UniProtKB:P04637#VAR_045537
Deletion	NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del)	TP53	Likely pathogenic	17	7579348	7579359	AGAAGCCCAGACG	A	criteria provided, single submitter	ClinGen:CA000115
Indel	NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis)	TP53	Likely pathogenic	17	7577090	7577100	CGCCGGTCTCT	TG	criteria provided, single submitter	ClinGen:CA000443
single nucleotide variant	NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	TP53	Likely pathogenic	17	7573987	7573987	G	T	reviewed by expert panel	ClinGen:CA000022
single nucleotide variant	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53	Likely pathogenic	17	7573996	7573996	A	G	reviewed by expert panel	ClinGen:CA000021,UniProtKB:P04637#VAR_045546,OMIM:191170.0031
single nucleotide variant	NM_000546.6(TP53):c.814G>T (p.Val272Leu)	TP53	Likely pathogenic	17	7577124	7577124	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000430,UniProtKB:P04637#VAR_005992,OMIM:191170.0012