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.7606G>A (p.Gly2536Arg)	FBN1	Pathogenic/Likely pathogenic	15	48713848	48713848	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017296
single nucleotide variant	NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48707829	48707829	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017477
single nucleotide variant	NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703282	48703282	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017803
single nucleotide variant	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1	Pathogenic/Likely pathogenic	15	48712949	48712949	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017354
single nucleotide variant	NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	FBN1	Pathogenic/Likely pathogenic	15	48782093	48782093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013681
single nucleotide variant	NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48726898	48726898	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016539
Deletion	NM_000138.5(FBN1):c.5066del (p.Asp1689fs)	FBN1	Pathogenic/Likely pathogenic	15	48755437	48755437	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015603
single nucleotide variant	NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)	FBN1	Pathogenic/Likely pathogenic	15	48779599	48779599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014004
single nucleotide variant	NM_000138.5(FBN1):c.4210+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48766451	48766451	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014835
single nucleotide variant	NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	FBN1	Pathogenic/Likely pathogenic	15	48808422	48808422	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012048