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.7880G>A (p.Gly2627Glu)	FBN1	Likely pathogenic	15	48707904	48707904	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392323342
Deletion	NM_000138.5(FBN1):c.7507del (p.Thr2503fs)	FBN1	Pathogenic	15	48714212	48714212	GT	G	criteria provided, single submitter	ClinGen:CA658656475
single nucleotide variant	NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)	FBN1	Likely pathogenic	15	48717643	48717643	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327896
single nucleotide variant	NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717655	48717655	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327954
single nucleotide variant	NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)	FBN1	Pathogenic	15	48720587	48720587	C	T	criteria provided, single submitter	ClinGen:CA392330600
single nucleotide variant	NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)	FBN1	Likely pathogenic	15	48726904	48726904	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335330
single nucleotide variant	NM_000138.5(FBN1):c.6313+2T>C	FBN1	Pathogenic	15	48729963	48729963	A	G	criteria provided, single submitter	ClinGen:CA392336880
single nucleotide variant	NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)	FBN1	Pathogenic/Likely pathogenic	15	48748885	48748885	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392346026
single nucleotide variant	NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter)	FBN1	Likely pathogenic	15	48757876	48757876	G	A	criteria provided, single submitter	ClinGen:CA392351363
Deletion	NM_000138.5(FBN1):c.4575del (p.Cys1526fs)	FBN1	Pathogenic	15	48760616	48760616	AG	A	criteria provided, single submitter	ClinGen:CA658656481

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