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.422G>A (p.Cys141Tyr)	TP53	Pathogenic	17	7578508	7578508	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000174,UniProtKB:P04637#VAR_005886
single nucleotide variant	NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	TP53	Pathogenic	17	7577094	7577094	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000453,UniProtKB:P04637#VAR_045384
single nucleotide variant	NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	TP53	Pathogenic	17	7577096	7577096	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000450,UniProtKB:P04637#VAR_006012
Indel	NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis)	TP53	Likely pathogenic	17	7577090	7577100	CGCCGGTCTCT	TG	criteria provided, single submitter	ClinGen:CA000443
single nucleotide variant	NM_000546.6(TP53):c.695T>C (p.Ile232Thr)	TP53	Pathogenic/Likely pathogenic	17	7577586	7577586	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000331,UniProtKB:P04637#VAR_005962
single nucleotide variant	NM_000546.6(TP53):c.1101-2A>G	TP53	Pathogenic/Likely pathogenic	17	7573010	7573010	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000038
single nucleotide variant	NM_000546.6(TP53):c.920-1G>A	TP53	Pathogenic	17	7576927	7576927	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000499
Deletion	NM_000546.6(TP53):c.808_817del (p.Phe270fs)	TP53	Pathogenic	17	7577121	7577130	CGCACCTCAAA	C	criteria provided, single submitter	ClinGen:CA000425
single nucleotide variant	NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	TP53	Pathogenic/Likely pathogenic	17	7577139	7577139	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000423,UniProtKB:P04637#VAR_036507
single nucleotide variant	NM_000546.6(TP53):c.473G>A (p.Arg158His)	TP53	Pathogenic/Likely pathogenic	17	7578457	7578457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000227,UniProtKB:P04637#VAR_005907

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