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
Deletion	NM_000546.6(TP53):c.248_249del (p.Ala83fs)	TP53	Pathogenic	17	7579438	7579439	CCG	C	criteria provided, single submitter	ClinGen:CA645369691
Deletion	NM_000546.6(TP53):c.216del (p.Val73fs)	TP53	Pathogenic	17	7579471	7579471	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA497925988
Insertion	NM_000546.6(TP53):c.214_215insG (p.Pro72fs)	TP53	Pathogenic	17	7579472	7579473	G	GC	criteria provided, single submitter	ClinGen:CA645369692
Duplication	NM_000546.6(TP53):c.97dup (p.Ser33fs)	TP53	Pathogenic	17	7579589	7579590	G	GA	criteria provided, single submitter	ClinGen:CA645369697
Deletion	NM_000546.6(TP53):c.86_96+4del	TP53	Pathogenic	17	7579696	7579710	CTTACCAGAACGTTGT	C	criteria provided, single submitter	ClinGen:CA645369698
Duplication	NM_000546.6(TP53):c.96+2dup	TP53	Likely pathogenic	17	7579697	7579698	T	TA	criteria provided, single submitter	ClinGen:CA645369699
single nucleotide variant	NM_000546.6(TP53):c.96+1G>C	TP53	Pathogenic/Likely pathogenic	17	7579699	7579699	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848258
single nucleotide variant	NM_000546.6(TP53):c.75-2A>G	TP53	Likely pathogenic	17	7579723	7579723	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848502
Deletion	NM_000546.6(TP53):c.58del (p.Ser20fs)	TP53	Pathogenic	17	7579855	7579855	GA	G	criteria provided, single submitter	ClinGen:CA645369693
Insertion	NM_000546.6(TP53):c.716_717insT (p.Ser240fs)	TP53	Pathogenic	17	7577564	7577565	G	GA	criteria provided, single submitter	ClinGen:CA645369702

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