リ・フラウメニ症候群 - MGenReviews

リ・フラウメニ症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.592G>T (p.Glu198Ter)	TP53	Pathogenic	17	7578257	7578257	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.548C>G (p.Ser183Ter)	TP53	Pathogenic	17	7578382	7578382	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.511G>T (p.Glu171Ter)	TP53	Pathogenic	17	7578419	7578419	C	A	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.455del (p.Pro152fs)	TP53	Pathogenic	17	7578475	7578475	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.437G>A (p.Trp146Ter)	TP53	Pathogenic	17	7578493	7578493	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.430C>T (p.Gln144Ter)	TP53	Pathogenic	17	7578500	7578500	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.396G>T (p.Lys132Asn)	TP53	Pathogenic/Likely pathogenic	17	7578534	7578534	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000546.6(TP53):c.371dup (p.Cys124fs)	TP53	Pathogenic	17	7579315	7579316	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.314G>T (p.Gly105Val)	TP53	Likely pathogenic	17	7579373	7579373	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.298C>T (p.Gln100Ter)	TP53	Pathogenic/Likely pathogenic	17	7579389	7579389	G	A	criteria provided, multiple submitters, no conflicts	-

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