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.4621C>T (p.Arg1541Ter)	FBN1	Pathogenic	15	48760261	48760261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015252
single nucleotide variant	NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)	FBN1	Likely pathogenic	15	48760671	48760671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015156
Duplication	NM_000138.5(FBN1):c.4429dup (p.Glu1477fs)	FBN1	Pathogenic	15	48762860	48762861	T	TC	criteria provided, single submitter	ClinGen:CA304348
Deletion	NM_000138.5(FBN1):c.4425del (p.Tyr1476fs)	FBN1	Pathogenic	15	48762865	48762865	AG	A	criteria provided, single submitter	ClinGen:CA015046
Deletion	NM_000138.5(FBN1):c.4405del (p.Arg1469fs)	FBN1	Pathogenic	15	48762885	48762885	CG	C	criteria provided, single submitter	ClinGen:CA015029
single nucleotide variant	NM_000138.5(FBN1):c.4337-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48762955	48762955	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014969
single nucleotide variant	NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)	FBN1	Pathogenic/Likely pathogenic	15	48764748	48764748	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014954
single nucleotide variant	NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)	FBN1	Pathogenic/Likely pathogenic	15	48766566	48766566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014760
single nucleotide variant	NM_000138.5(FBN1):c.4062G>A (p.Trp1354Ter)	FBN1	Pathogenic	15	48766750	48766750	C	T	criteria provided, single submitter	ClinGen:CA014736
single nucleotide variant	NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter)	FBN1	Pathogenic	15	48766762	48766762	G	T	criteria provided, single submitter	ClinGen:CA014724

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