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.1481G>T (p.Cys494Phe)	FBN1	Likely pathogenic	15	48805853	48805853	C	A	criteria provided, single submitter	ClinGen:CA16043494
single nucleotide variant	NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)	FBN1	Likely pathogenic	15	48805853	48805853	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606737
single nucleotide variant	NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)	FBN1	Likely pathogenic	15	48805853	48805853	C	G	reviewed by expert panel	ClinGen:CA392342805
single nucleotide variant	NM_000138.5(FBN1):c.1468+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48807579	48807579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012192
single nucleotide variant	NM_000138.5(FBN1):c.1468+2T>C	FBN1	Pathogenic	15	48807582	48807582	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012180
single nucleotide variant	NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)	FBN1	Pathogenic	15	48807584	48807584	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48807589	48807589	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)	FBN1	Pathogenic/Likely pathogenic	15	48807590	48807590	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392343563
single nucleotide variant	NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)	FBN1	Pathogenic/Likely pathogenic	15	48807593	48807593	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392343581
single nucleotide variant	NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)	FBN1	Pathogenic	15	48807599	48807599	G	A	reviewed by expert panel	ClinGen:CA012160,OMIM:134797.0047