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.1831T>C (p.Cys611Arg)	FBN1	Pathogenic	15	48800785	48800785	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.1823del (p.Gly608fs)	FBN1	Pathogenic	15	48800793	48800793	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)	FBN1	Pathogenic	15	48800822	48800822	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)	FBN1	Pathogenic/Likely pathogenic	15	48800850	48800850	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)	FBN1	Pathogenic	15	48800856	48800856	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)	FBN1	Likely pathogenic	15	48800862	48800862	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)	FBN1	Pathogenic	15	48800889	48800889	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)	FBN1	Pathogenic	15	48802246	48802246	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)	FBN1	Pathogenic	15	48802291	48802291	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1575del (p.Thr526fs)	FBN1	Pathogenic	15	48805759	48805759	TC	T	criteria provided, single submitter	-

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