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.5994C>G (p.Cys1998Trp)	FBN1	Pathogenic	15	48736781	48736781	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)	FBN1	Pathogenic	15	48736825	48736825	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)	FBN1	Likely pathogenic	15	48737578	48737578	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)	FBN1	Likely pathogenic	15	48737579	48737579	A	C	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)	FBN1	Pathogenic	15	48737632	48737633	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)	FBN1	Pathogenic	15	48737690	48737690	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5788+1G>T	FBN1	Pathogenic	15	48738902	48738902	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)	FBN1	Likely pathogenic	15	48738992	48738992	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5672-1G>A	FBN1	Pathogenic/Likely pathogenic	15	48739020	48739020	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)	FBN1	Pathogenic	15	48741043	48741043	A	G	criteria provided, single submitter	-

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