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.315C>G (p.Tyr105Ter)	RECQL4	Pathogenic	8	145742473	145742473	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.118+2T>C	RECQL4	Likely pathogenic	8	145742984	145742984	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3393+2T>G	RECQL4	Likely pathogenic	8	145737292	145737292	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.3237-1G>A	RECQL4	Likely pathogenic	8	145737451	145737451	C	T	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.3055+1del	RECQL4	Likely pathogenic	8	145737774	145737774	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3393+1G>A	RECQL4	Likely pathogenic	8	145737293	145737293	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2885+1G>T	RECQL4	Likely pathogenic	8	145738024	145738024	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2755+1G>A	RECQL4	Pathogenic/Likely pathogenic	8	145738229	145738229	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145741414	145741414	G	C	criteria provided, multiple submitters, no conflicts	-

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