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.404G>T (p.Cys135Phe)	TP53	Pathogenic	17	7578526	7578526	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602985
single nucleotide variant	NM_000546.6(TP53):c.403T>C (p.Cys135Arg)	TP53	Pathogenic	17	7578527	7578527	A	G	criteria provided, single submitter	ClinGen:CA16602986
single nucleotide variant	NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	TP53	Likely pathogenic	17	7578527	7578527	A	C	reviewed by expert panel	ClinGen:CA16602989
single nucleotide variant	NM_000546.6(TP53):c.527G>T (p.Cys176Phe)	TP53	Pathogenic/Likely pathogenic	17	7578403	7578403	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602995
single nucleotide variant	NM_000546.6(TP53):c.713G>T (p.Cys238Phe)	TP53	Pathogenic/Likely pathogenic	17	7577568	7577568	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603000
single nucleotide variant	NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	TP53	Pathogenic/Likely pathogenic	17	7577568	7577568	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603001
single nucleotide variant	NM_000546.6(TP53):c.712T>C (p.Cys238Arg)	TP53	Pathogenic	17	7577569	7577569	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603002
single nucleotide variant	NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	TP53	Pathogenic	17	7577569	7577569	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603003
single nucleotide variant	NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	TP53	Pathogenic	17	7577114	7577114	C	A	criteria provided, single submitter	ClinGen:CA16603006
single nucleotide variant	NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	TP53	Pathogenic	17	7577097	7577097	C	A	criteria provided, single submitter	ClinGen:CA16603009

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