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	NM_000138.5(FBN1):c.1021_1028del (p.Thr341fs)	FBN1	Pathogenic	15	48812975	48812982	CCCGTTTGT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)	FBN1	Pathogenic	15	48829873	48829873	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000015.10:g.(?_48520639)_(48520837_?)del	FBN1	Pathogenic	15	48812836	48813034	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48612990)_(48644789_?)del	FBN1	Pathogenic	15	48905187	48936986	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7571-1G>A	FBN1	Likely pathogenic	15	48713884	48713884	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter)	FBN1	Pathogenic	15	48714170	48714170	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)	FBN1	Likely pathogenic	15	48718028	48718028	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter)	FBN1	Pathogenic	15	48722982	48722982	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)	FBN1	Pathogenic/Likely pathogenic	15	48722988	48722988	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser)	FBN1	Likely pathogenic	15	48726839	48726839	A	T	criteria provided, single submitter	-

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