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
single nucleotide variant	NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)	FBN1	Likely pathogenic	15	48719764	48719764	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)	FBN1	Pathogenic	15	48703291	48703291	T	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6751del (p.Cys2251fs)	FBN1	Pathogenic	15	48722988	48722988	CA	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.661del (p.Cys221fs)	FBN1	Pathogenic	15	48829883	48829883	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)	FBN1	Likely pathogenic	15	48722911	48722911	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)	FBN1	Pathogenic	15	48805776	48805776	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp)	FBN1	Pathogenic	15	48789539	48789539	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg)	FBN1	Pathogenic	15	48784751	48784751	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)	FBN1	Pathogenic	15	48787767	48787767	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)	FBN1	Pathogenic	15	48936918	48936927	AAAAGCACGGT	A	criteria provided, single submitter	-