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.7694G>A (p.Cys2565Tyr)	FBN1	Pathogenic	15	48713760	48713760	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	FBN1	Pathogenic/Likely pathogenic	15	48713872	48713872	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.6613dup (p.Glu2205fs)	FBN1	Pathogenic	15	48726793	48726794	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)	FBN1	Likely pathogenic	15	48729268	48729268	T	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.5905del (p.Arg1969fs)	FBN1	Pathogenic	15	48737585	48737585	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.4781del (p.Gly1594fs)	FBN1	Pathogenic	15	48758022	48758022	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)	FBN1	Pathogenic	15	48766776	48766776	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)	FBN1	Likely pathogenic	15	48777684	48777684	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)	FBN1	Pathogenic	15	48780315	48780315	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)	FBN1	Pathogenic	15	48787440	48787440	A	G	criteria provided, single submitter	-

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