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.551_554del (p.Asp184fs)	TP53	Pathogenic	17	7578376	7578379	GCTAT	G	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.509_510dup (p.Glu171fs)	TP53	Pathogenic	17	7578419	7578420	C	CCG	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.383del (p.Pro128fs)	TP53	Pathogenic	17	7578547	7578547	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.380C>A (p.Ser127Tyr)	TP53	Pathogenic	17	7578550	7578550	G	T	reviewed by expert panel	-
Duplication	NM_000546.6(TP53):c.342dup (p.His115fs)	TP53	Pathogenic	17	7579344	7579345	G	GC	criteria provided, single submitter	-
Indel	NM_000546.6(TP53):c.329_330delinsCC (p.Arg110Pro)	TP53	Pathogenic	17	7579357	7579358	AC	GG	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.250del (p.Ala84fs)	TP53	Pathogenic	17	7579437	7579437	GC	G	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.196dup (p.Met66fs)	TP53	Pathogenic	17	7579490	7579491	A	AT	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669599)_(8382320_?)del	TP53	Pathogenic	17	7572917	8285638	na	na	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.917_919+15del	TP53	Pathogenic	17	7577004	7577021	TGTCCTGCTTGCTTACCTC	T	criteria provided, single submitter	-