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.283_375+21del	TP53	Likely pathogenic	17	7579291	7579404	CCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615710
single nucleotide variant	NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	TP53	Pathogenic/Likely pathogenic	17	7579358	7579358	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA002845
Deletion	NM_000546.6(TP53):c.716del (p.Asn239fs)	TP53	Pathogenic	17	7577565	7577565	GT	G	criteria provided, single submitter	ClinGen:CA16615719
Deletion	NM_000546.6(TP53):c.560-4_560-2del	TP53	Likely pathogenic	17	7578291	7578293	CTAA	C	criteria provided, single submitter	ClinGen:CA16615727
single nucleotide variant	NM_000546.6(TP53):c.321C>A (p.Tyr107Ter)	TP53	Pathogenic	17	7579366	7579366	G	T	criteria provided, single submitter	ClinGen:CA16615729
single nucleotide variant	NM_000546.6(TP53):c.313G>C (p.Gly105Arg)	TP53	Pathogenic/Likely pathogenic	17	7579374	7579374	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615732
Deletion	NM_000546.6(TP53):c.448_460del (p.Thr150fs)	TP53	Pathogenic	17	7578470	7578482	CCGGGCGGGGGTGT	C	criteria provided, single submitter	ClinGen:CA16615954
Deletion	NM_000546.6(TP53):c.790del (p.Leu264fs)	TP53	Pathogenic	17	7577148	7577148	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615995
single nucleotide variant	NM_000546.6(TP53):c.853G>A (p.Glu285Lys)	TP53	Pathogenic/Likely pathogenic	17	7577085	7577085	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620615
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