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.1A>G (p.Met1Val)	FBN1	Pathogenic	15	48936966	48936966	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012702
single nucleotide variant	NM_000138.5(FBN1):c.1A>C (p.Met1Leu)	FBN1	Pathogenic	15	48936966	48936966	T	G	reviewed by expert panel	ClinGen:CA392454066
single nucleotide variant	NM_000138.5(FBN1):c.1A>T (p.Met1Leu)	FBN1	Pathogenic	15	48936966	48936966	T	A	criteria provided, single submitter	-