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.5368C>T (p.Arg1790Ter)	FBN1	Pathogenic	15	48748888	48748888	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015774
single nucleotide variant	NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)	FBN1	Pathogenic/Likely pathogenic	15	48744867	48744867	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015808
single nucleotide variant	NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48744800	48744800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015839
single nucleotide variant	NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)	FBN1	Likely pathogenic	15	48744792	48744792	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015847
Deletion	NM_000138.5(FBN1):c.561del (p.Phe187fs)	FBN1	Likely pathogenic	15	48829983	48829983	TA	T	criteria provided, single submitter	ClinGen:CA015919
single nucleotide variant	NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)	FBN1	Likely pathogenic	15	48738970	48738970	G	C	criteria provided, single submitter	ClinGen:CA015998
single nucleotide variant	NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)	FBN1	Pathogenic	15	48737627	48737627	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016131
single nucleotide variant	NM_000138.5(FBN1):c.5788+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48738898	48738898	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016065,OMIM:134797.0039
single nucleotide variant	NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48737650	48737650	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016110
single nucleotide variant	NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)	FBN1	Likely pathogenic	15	48737621	48737621	G	A	criteria provided, single submitter	ClinGen:CA016139