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.1710T>A (p.Cys570Ter)	FBN1	Pathogenic/Likely pathogenic	15	48802245	48802245	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012495
single nucleotide variant	NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)	FBN1	Pathogenic/Likely pathogenic	15	48797234	48797234	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012686
single nucleotide variant	NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	FBN1	Pathogenic/Likely pathogenic	15	48796042	48796042	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012728
Deletion	NM_000138.5(FBN1):c.2682del (p.Ile895fs)	FBN1	Pathogenic/Likely pathogenic	15	48786447	48786447	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013347
Deletion	NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)	FBN1	Pathogenic/Likely pathogenic	15	48780632	48780633	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013816
Deletion	NM_000138.5(FBN1):c.3193del (p.Glu1065fs)	FBN1	Pathogenic/Likely pathogenic	15	48780580	48780580	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013866
single nucleotide variant	NM_000138.5(FBN1):c.4460-8G>A	FBN1	Pathogenic/Likely pathogenic	15	48760739	48760739	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015110
single nucleotide variant	NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	FBN1	Pathogenic/Likely pathogenic	15	48760294	48760294	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015232
single nucleotide variant	NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)	FBN1	Pathogenic/Likely pathogenic	15	48888508	48888508	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015657
single nucleotide variant	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	FBN1	Pathogenic/Likely pathogenic	15	48722933	48722933	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016742