マルファン症候群

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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.5680G>A (p.Glu1894Lys)	FBN1	Likely pathogenic	15	48739011	48739011	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607803
single nucleotide variant	NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val)	FBN1	Likely pathogenic	15	48752454	48752454	C	A	criteria provided, single submitter	ClinGen:CA16607804
single nucleotide variant	NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)	FBN1	Likely pathogenic	15	48786406	48786406	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607810
single nucleotide variant	NM_000138.5(FBN1):c.60C>A (p.Tyr20Ter)	FBN1	Likely pathogenic	15	48936907	48936907	G	T	criteria provided, single submitter	ClinGen:CA16607819
single nucleotide variant	NM_000138.5(FBN1):c.8051+375G>T	FBN1	Pathogenic	15	48707358	48707358	C	A	criteria provided, single submitter	ClinGen:CA16614382
single nucleotide variant	NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)	FBN1	Pathogenic/Likely pathogenic	15	48707764	48707764	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614384
Duplication	NM_000138.5(FBN1):c.7881dup (p.Ser2628fs)	FBN1	Pathogenic	15	48707902	48707903	T	TC	criteria provided, single submitter	ClinGen:CA16614389
single nucleotide variant	NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter)	FBN1	Pathogenic	15	48707932	48707932	C	A	criteria provided, single submitter	ClinGen:CA16614391
single nucleotide variant	NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr)	FBN1	Pathogenic	15	48714253	48714253	C	T	criteria provided, single submitter	ClinGen:CA16614394
single nucleotide variant	NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly)	FBN1	Pathogenic	15	48717688	48717688	T	C	criteria provided, single submitter	ClinGen:CA16614395