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.7080dup (p.Ser2361fs)	FBN1	Pathogenic	15	48719887	48719888	A	AT	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter)	FBN1	Pathogenic	15	48720585	48720586	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys)	FBN1	Pathogenic/Likely pathogenic	15	48720624	48720624	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)	FBN1	Pathogenic	15	48722873	48722873	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.6699del (p.Val2234fs)	FBN1	Pathogenic	15	48725103	48725103	CG	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs)	FBN1	Pathogenic	15	48725175	48725179	ATTCAT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val)	FBN1	Pathogenic	15	48726823	48726823	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr)	FBN1	Pathogenic	15	48729202	48729202	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp)	FBN1	Pathogenic/Likely pathogenic	15	48729261	48729261	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.6266del (p.Gly2089fs)	FBN1	Pathogenic	15	48730012	48730012	TC	T	criteria provided, single submitter	-

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