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.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.919+2T>G	TP53	Pathogenic	17	7577017	7577017	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA397836235
single nucleotide variant	NM_000546.6(TP53):c.919+1G>C	TP53	Likely pathogenic	17	7577018	7577018	C	G	criteria provided, single submitter	ClinGen:CA397836244
Deletion	NM_000546.6(TP53):c.844del (p.Arg282fs)	TP53	Pathogenic	17	7577094	7577094	CG	C	criteria provided, single submitter	ClinGen:CA497715983
Indel	NM_000546.5(TP53):c.766_770delACACTins16 (p.?)	TP53	Pathogenic	17	7577511	7577515	na	na	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del)	TP53	Pathogenic	17	7577537	7577551	TCCGGTTCATGCCGCC	T	criteria provided, single submitter	ClinGen:CA645369701
Deletion	NM_000546.6(TP53):c.635_636del (p.Phe212fs)	TP53	Pathogenic	17	7578213	7578214	GAA	G	criteria provided, single submitter	ClinGen:CA645369684
Deletion	NM_000546.6(TP53):c.599del (p.Asn200fs)	TP53	Pathogenic	17	7578250	7578250	AT	A	criteria provided, single submitter	ClinGen:CA497925338
Deletion	NM_000546.6(TP53):c.592del (p.Glu198fs)	TP53	Pathogenic	17	7578257	7578257	TC	T	criteria provided, single submitter	ClinGen:CA497925345
single nucleotide variant	NM_000546.6(TP53):c.559+1G>A	TP53	Pathogenic/Likely pathogenic	17	7578370	7578370	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397841068

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