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	NC_000015.10:g.(?_48410970)_(48412763_?)del	FBN1	Pathogenic	15	48703167	48704960	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48596263)_(48644789_?)del	FBN1	Pathogenic	15	48888460	48936986	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter)	FBN1	Pathogenic	15	48707962	48707962	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)	FBN1	Pathogenic	15	48717620	48717620	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)	FBN1	Pathogenic	15	48717621	48717621	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg)	FBN1	Pathogenic	15	48720657	48720657	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5918-1G>C	FBN1	Pathogenic	15	48736858	48736858	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5788+6T>G	FBN1	Likely pathogenic	15	48738897	48738897	A	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs)	FBN1	Pathogenic	15	48739000	48739003	CTCTT	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.5545+1del	FBN1	Likely pathogenic	15	48744758	48744758	AC	A	criteria provided, single submitter	-

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