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.8226+1G>T	FBN1	Pathogenic	15	48704765	48704765	C	A	criteria provided, single submitter	ClinGen:CA017633,OMIM:134797.0066
single nucleotide variant	NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)	FBN1	Pathogenic	15	48812952	48812952	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011893
single nucleotide variant	NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)	FBN1	Pathogenic	15	48808515	48808515	T	A	criteria provided, single submitter	ClinGen:CA012019
single nucleotide variant	NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)	FBN1	Pathogenic	15	48812908	48812908	G	T	criteria provided, single submitter	ClinGen:CA011950
single nucleotide variant	NM_000138.5(FBN1):c.1148-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48808561	48808561	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011982
single nucleotide variant	NM_000138.5(FBN1):c.1468+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48807579	48807579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012192
single nucleotide variant	NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)	FBN1	Pathogenic	15	48805788	48805788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012230
single nucleotide variant	NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48802354	48802354	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012313
single nucleotide variant	NM_000138.5(FBN1):c.1837+1G>T	FBN1	Likely pathogenic	15	48800778	48800778	C	A	criteria provided, single submitter	ClinGen:CA012573
single nucleotide variant	NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	FBN1	Pathogenic	15	48905270	48905270	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012607

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