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.993G>A (p.Gln331=)	TP53	Likely pathogenic	17	7576853	7576853	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590137
single nucleotide variant	NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	TP53	Likely pathogenic	17	7574027	7574027	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397832878
single nucleotide variant	NM_000546.6(TP53):c.569C>T (p.Pro190Leu)	TP53	Likely pathogenic	17	7578280	7578280	G	A	reviewed by expert panel	ClinGen:CA16620625
Deletion	NM_000546.6(TP53):c.560-4_560-2del	TP53	Likely pathogenic	17	7578291	7578293	CTAA	C	criteria provided, single submitter	ClinGen:CA16615727
Deletion	NM_000546.6(TP53):c.283_375+21del	TP53	Likely pathogenic	17	7579291	7579404	CCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615710
Deletion	NC_000017.11:g.(?_7668402)_(7669690_?)del	TP53	Likely pathogenic	17	7571720	7573008	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.325T>G (p.Phe109Val)	TP53	Likely pathogenic	17	7579362	7579362	A	C	criteria provided, single submitter	ClinGen:CA16608667
single nucleotide variant	NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	TP53	Likely pathogenic	17	7577565	7577565	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603054
single nucleotide variant	NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	TP53	Likely pathogenic	17	7578534	7578534	C	G	reviewed by expert panel	ClinGen:CA16603044
single nucleotide variant	NM_000546.6(TP53):c.641A>G (p.His214Arg)	TP53	Likely pathogenic	17	7578208	7578208	T	C	reviewed by expert panel	ClinGen:CA16040595