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.2557T>A (p.Cys853Ser)	FBN1	Likely pathogenic	15	48787440	48787440	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)	FBN1	Pathogenic/Likely pathogenic	15	48787759	48787759	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp)	FBN1	Pathogenic	15	48787772	48787772	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48787773	48787773	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48788347	48788347	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)	FBN1	Pathogenic	15	48788415	48788418	CATTA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)	FBN1	Pathogenic	15	48789469	48789469	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48796043	48796043	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1960+1G>C	FBN1	Pathogenic	15	48797221	48797221	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)	FBN1	Pathogenic/Likely pathogenic	15	48797333	48797333	A	G	criteria provided, multiple submitters, no conflicts	-

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