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

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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.1948C>T (p.Arg650Cys)	FBN1	Pathogenic/Likely pathogenic	15	48797234	48797234	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012686
single nucleotide variant	NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	FBN1	Pathogenic/Likely pathogenic	15	48796042	48796042	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012728
single nucleotide variant	NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)	FBN1	Likely pathogenic	15	48796040	48796040	G	T	criteria provided, single submitter	ClinGen:CA012756
Deletion	NM_000138.5(FBN1):c.2186del (p.Leu729fs)	FBN1	Likely pathogenic	15	48789570	48789570	TA	T	criteria provided, single submitter	ClinGen:CA012860
single nucleotide variant	NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)	FBN1	Likely pathogenic	15	48788347	48788347	C	G	criteria provided, single submitter	ClinGen:CA012976
single nucleotide variant	NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)	FBN1	Pathogenic	15	48787772	48787772	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013041
single nucleotide variant	NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)	FBN1	Likely pathogenic	15	48903005	48903005	C	G	criteria provided, single submitter	ClinGen:CA013283
single nucleotide variant	NM_000138.5(FBN1):c.2677G>C (p.Asp893His)	FBN1	Likely pathogenic	15	48787320	48787320	C	G	criteria provided, single submitter	ClinGen:CA013303
Deletion	NM_000138.5(FBN1):c.2682del (p.Ile895fs)	FBN1	Pathogenic/Likely pathogenic	15	48786447	48786447	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013347
single nucleotide variant	NM_000138.5(FBN1):c.2855-1G>C	FBN1	Likely pathogenic	15	48782276	48782276	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013455

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