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
Deletion	NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)	FBN1	Likely pathogenic	15	48744776	48744783	GGAGGTGAA	G	criteria provided, single submitter	ClinGen:CA015869
single nucleotide variant	NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)	FBN1	Likely pathogenic	15	48741084	48741084	T	C	criteria provided, single submitter	ClinGen:CA015886
single nucleotide variant	NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)	FBN1	Likely pathogenic	15	48829988	48829988	A	G	criteria provided, single submitter	ClinGen:CA015898
single nucleotide variant	NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)	FBN1	Likely pathogenic	15	48740965	48740965	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015930
single nucleotide variant	NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)	FBN1	Likely pathogenic	15	48936911	48936911	G	A	criteria provided, single submitter	ClinGen:CA015969
Duplication	NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)	FBN1	Likely pathogenic	15	48736762	48736763	T	TGTATCCA	criteria provided, single submitter	ClinGen:CA281824
single nucleotide variant	NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)	FBN1	Likely pathogenic	15	48729269	48729269	C	A	criteria provided, single submitter	ClinGen:CA016393
single nucleotide variant	NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)	FBN1	Likely pathogenic	15	48829895	48829895	A	C	criteria provided, single submitter	ClinGen:CA016532
Duplication	NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)	FBN1	Likely pathogenic	15	48726850	48726851	C	CCAAT	criteria provided, single submitter	ClinGen:CA281833
Deletion	NM_000138.5(FBN1):c.6704del (p.Gly2235fs)	FBN1	Likely pathogenic	15	48725098	48725098	TC	T	criteria provided, single submitter	ClinGen:CA016675

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