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.7204G>C (p.Asp2402His)	FBN1	Likely pathogenic	15	48719764	48719764	C	G	criteria provided, single submitter	ClinGen:CA16606688
single nucleotide variant	NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr)	FBN1	Pathogenic	15	48722945	48722945	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606691
single nucleotide variant	NM_000138.5(FBN1):c.6379+2T>C	FBN1	Pathogenic	15	48729517	48729517	A	G	criteria provided, single submitter	ClinGen:CA16606697
single nucleotide variant	NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe)	FBN1	Pathogenic/Likely pathogenic	15	48762908	48762908	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606704
single nucleotide variant	NM_000138.5(FBN1):c.4211-1G>A	FBN1	Pathogenic/Likely pathogenic	15	48764874	48764874	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606706
single nucleotide variant	NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)	FBN1	Pathogenic	15	48802285	48802285	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606733
single nucleotide variant	NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)	FBN1	Pathogenic/Likely pathogenic	15	48805812	48805812	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606736
single nucleotide variant	NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)	FBN1	Likely pathogenic	15	48805853	48805853	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606737
single nucleotide variant	NM_000138.5(FBN1):c.7465T>C (p.Cys2489Arg)	FBN1	Pathogenic	15	48714254	48714254	A	G	criteria provided, single submitter	ClinGen:CA16606955
single nucleotide variant	NM_000138.5(FBN1):c.3635G>C (p.Cys1212Ser)	FBN1	Pathogenic	15	48777648	48777648	C	G	criteria provided, single submitter	ClinGen:CA16606967

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