マルファン症候群

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
Indel	NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)	FBN1	Likely pathogenic	15	48718040	48718049	ATAACCTTGC	TCTGTA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)	FBN1	Likely pathogenic	15	48779559	48779559	C	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.1948dup (p.Arg650fs)	FBN1	Likely pathogenic	15	48797233	48797234	C	CG	criteria provided, single submitter	-