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.1098G>C (p.Trp366Cys)	FBN1	Pathogenic/Likely pathogenic	15	48812905	48812905	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905251	48905251	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6872-961A>G	FBN1	Pathogenic/Likely pathogenic	15	48721629	48721629	T	C	criteria provided, multiple submitters, no conflicts	-