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

1
...
91
92
93
94
95
...
135

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.5788G>A (p.Asp1930Asn)	FBN1	Pathogenic/Likely pathogenic	15	48738903	48738903	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg)	FBN1	Likely pathogenic	15	48748840	48748840	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5296+6T>C	FBN1	Likely pathogenic	15	48752437	48752437	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.5179del (p.Arg1727fs)	FBN1	Likely pathogenic	15	48755324	48755324	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5065+1G>T	FBN1	Pathogenic/Likely pathogenic	15	48756095	48756095	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5065+1G>C	FBN1	Pathogenic/Likely pathogenic	15	48756095	48756095	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr)	FBN1	Pathogenic	15	48756140	48756140	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe)	FBN1	Pathogenic	15	48756173	48756173	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4943-1G>A	FBN1	Likely pathogenic	15	48756219	48756219	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)	FBN1	Likely pathogenic	15	48760653	48760653	C	T	criteria provided, multiple submitters, no conflicts	-

1
...
91
92
93
94
95
...
135