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.391A>T (p.Asn131Tyr)	TP53	Pathogenic	17	7578539	7578539	T	A	criteria provided, single submitter	ClinGen:CA000154,UniProtKB:P04637#VAR_044739
single nucleotide variant	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53	Pathogenic	17	7577022	7577022	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000495
single nucleotide variant	NM_000546.6(TP53):c.994-1G>A	TP53	Pathogenic	17	7574034	7574034	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000528
Deletion	NM_000546.6(TP53):c.447_459del (p.Thr150fs)	TP53	Pathogenic	17	7578471	7578483	CGGGCGGGGGTGTG	C	criteria provided, single submitter	ClinGen:CA000192
Deletion	NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del)	TP53	Likely pathogenic	17	7579348	7579359	AGAAGCCCAGACG	A	criteria provided, single submitter	ClinGen:CA000115
single nucleotide variant	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	TP53	Pathogenic/Likely pathogenic	17	7574018	7574018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000010,UniProtKB:P04637#VAR_006041
Duplication	NM_000546.6(TP53):c.155_157dup (p.Trp53Ter)	TP53	Pathogenic	17	7579529	7579530	C	CATT	criteria provided, single submitter	ClinGen:CA168994
Indel	NM_000546.6(TP53):c.137delinsGT (p.Ser46fs)	TP53	Pathogenic	17	7579550	7579550	G	AC	criteria provided, single submitter	ClinGen:CA169169
single nucleotide variant	NM_000546.6(TP53):c.711G>A (p.Met237Ile)	TP53	Pathogenic	17	7577570	7577570	C	T	reviewed by expert panel	ClinGen:CA000349,UniProtKB:P04637#VAR_005965
single nucleotide variant	NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	TP53	Pathogenic	17	7578475	7578475	G	A	reviewed by expert panel	ClinGen:CA000204,UniProtKB:P04637#VAR_005897

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