マルファン症候群 - MGenReviews

マルファン症候群

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_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)	FBN1	Likely pathogenic	15	48737651	48737651	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392340092
single nucleotide variant	NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg)	FBN1	Pathogenic/Likely pathogenic	15	48744834	48744834	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392344307
single nucleotide variant	NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	FBN1	Pathogenic/Likely pathogenic	15	48755320	48755320	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392349119
single nucleotide variant	NM_000138.5(FBN1):c.4688G>C (p.Cys1563Ser)	FBN1	Likely pathogenic	15	48760194	48760194	C	G	criteria provided, single submitter	ClinGen:CA392352967
single nucleotide variant	NM_000138.5(FBN1):c.4429G>T (p.Glu1477Ter)	FBN1	Pathogenic	15	48762861	48762861	C	A	criteria provided, single submitter	ClinGen:CA392354378
single nucleotide variant	NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser)	FBN1	Likely pathogenic	15	48762908	48762908	C	G	criteria provided, single submitter	ClinGen:CA392354610
single nucleotide variant	NM_000138.5(FBN1):c.4138T>C (p.Cys1380Arg)	FBN1	Likely pathogenic	15	48766524	48766524	A	G	criteria provided, single submitter	ClinGen:CA392320268
single nucleotide variant	NM_000138.5(FBN1):c.3761G>A (p.Cys1254Tyr)	FBN1	Likely pathogenic	15	48776092	48776092	C	T	criteria provided, single submitter	ClinGen:CA392323988
single nucleotide variant	NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter)	FBN1	Pathogenic	15	48776096	48776096	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392324001
single nucleotide variant	NM_000138.5(FBN1):c.3713-2A>T	FBN1	Pathogenic	15	48776142	48776142	T	A	criteria provided, single submitter	ClinGen:CA392324268

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