ロスムンド・トムソン症候群 - MGenReviews

ロスムンド・トムソン症候群

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_004260.4(RECQL4):c.517C>T (p.Gln173Ter)	RECQL4	Pathogenic	8	145741986	145741986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4949263
Deletion	NM_004260.4(RECQL4):c.871del (p.Ala291fs)	RECQL4	Pathogenic	8	145741632	145741632	GC	G	criteria provided, single submitter	ClinGen:CA586165522
Deletion	NM_004260.4(RECQL4):c.143_144del (p.Leu48fs)	RECQL4	Pathogenic	8	145742867	145742868	TCA	T	criteria provided, single submitter	ClinGen:CA658657854
single nucleotide variant	NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter)	RECQL4	Pathogenic	8	145741578	145741578	G	A	criteria provided, single submitter	ClinGen:CA372688649
Deletion	NM_004260.4(RECQL4):c.194_200del (p.Leu65fs)	RECQL4	Pathogenic	8	145742811	145742817	CGCGGGGA	C	criteria provided, single submitter	ClinGen:CA658657853
Deletion	NM_004260.4(RECQL4):c.2866_2885+19del	RECQL4	Likely pathogenic	8	145738006	145738044	ACTGGGCAGGGCGTGCTTACCTGTGGGCCAGGGCCTGGAG	A	criteria provided, single submitter	ClinGen:CA586165231
single nucleotide variant	NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738793	145738793	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4948352
single nucleotide variant	NM_004260.4(RECQL4):c.792G>A (p.Trp264Ter)	RECQL4	Pathogenic	8	145741711	145741711	C	T	criteria provided, single submitter	ClinGen:CA372689216
Deletion	NM_004260.4(RECQL4):c.2085del (p.Lys695fs)	RECQL4	Pathogenic	8	145739070	145739070	GT	G	criteria provided, single submitter	ClinGen:CA658797173
single nucleotide variant	NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter)	RECQL4	Pathogenic	8	145739613	145739613	C	T	criteria provided, single submitter	ClinGen:CA372680700

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