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
Indel	NM_000546.6(TP53):c.795_796delinsCT (p.Gly266Ter)	TP53	Pathogenic	17	7577142	7577143	CC	AG	criteria provided, single submitter	ClinGen:CA658683981
single nucleotide variant	NM_000546.6(TP53):c.831T>A (p.Cys277Ter)	TP53	Pathogenic	17	7577107	7577107	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397836898
Duplication	NM_000546.6(TP53):c.643_644dup (p.Ser215fs)	TP53	Pathogenic	17	7578204	7578205	A	ACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683990
single nucleotide variant	NM_000546.6(TP53):c.560-1G>C	TP53	Pathogenic	17	7578290	7578290	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397840948
single nucleotide variant	NM_000546.6(TP53):c.782+1G>T	TP53	Likely pathogenic	17	7577498	7577498	C	A	criteria provided, single submitter	ClinGen:CA397837531
single nucleotide variant	NM_000546.6(TP53):c.672+2T>A	TP53	Likely pathogenic	17	7578175	7578175	A	T	criteria provided, single submitter	ClinGen:CA397839761
Duplication	NC_000017.10:g.(?_7578171)_(7579918_?)dup	TP53	Likely pathogenic	17	7578171	7579918	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669603)_(7676600_?)del	TP53	Pathogenic	17	7572921	7579918	na	na	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.522_559+5del	TP53	Pathogenic	17	7578366	7578408	GCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGC	G	criteria provided, single submitter	ClinGen:CA658798694
single nucleotide variant	NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	TP53	Pathogenic/Likely pathogenic	17	7578431	7578431	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397841811