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.8591T>C (p.Met2864Thr)	FBN1	Likely pathogenic	15	48703212	48703212	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)	FBN1	Likely pathogenic	15	48703203	48703203	T	G	criteria provided, single submitter	ClinGen:CA017835
Deletion	NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)	FBN1	Likely pathogenic	15	48703197	48703198	CAA	C	criteria provided, single submitter	ClinGen:CA017840