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
Duplication	NM_000138.5(FBN1):c.2213dup (p.Cys739fs)	FBN1	Pathogenic	15	48789542	48789543	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614441
single nucleotide variant	NM_000138.5(FBN1):c.2089C>T (p.Gln697Ter)	FBN1	Pathogenic	15	48796008	48796008	G	A	criteria provided, single submitter	ClinGen:CA16614443
single nucleotide variant	NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)	FBN1	Pathogenic/Likely pathogenic	15	48797333	48797333	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614446
Deletion	NM_000138.5(FBN1):c.978del (p.Arg327fs)	FBN1	Pathogenic	15	48818337	48818337	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614454
single nucleotide variant	NM_000138.5(FBN1):c.592C>T (p.Gln198Ter)	FBN1	Pathogenic	15	48829952	48829952	G	A	criteria provided, single submitter	ClinGen:CA16614457
Deletion	NM_000138.5(FBN1):c.8561del (p.Leu2854fs)	FBN1	Likely pathogenic	15	48703242	48703242	GA	G	criteria provided, single submitter	ClinGen:CA16614472
Deletion	NM_000138.5(FBN1):c.8087del (p.Asn2696fs)	FBN1	Likely pathogenic	15	48704905	48704905	GT	G	criteria provided, single submitter	ClinGen:CA16614478
Duplication	NM_000138.5(FBN1):c.7974dup (p.Cys2659fs)	FBN1	Pathogenic	15	48707809	48707810	A	AG	criteria provided, single submitter	ClinGen:CA16614486
Duplication	NM_000138.5(FBN1):c.7729dup (p.Cys2577fs)	FBN1	Pathogenic	15	48712973	48712974	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614487
Deletion	NM_000138.5(FBN1):c.6963del (p.Phe2322fs)	FBN1	Pathogenic	15	48720577	48720577	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614504

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