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.7447T>C (p.Cys2483Arg)	FBN1	Pathogenic/Likely pathogenic	15	48717572	48717572	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7699+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48713754	48713754	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48712991	48712991	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)	FBN1	Pathogenic/Likely pathogenic	15	48707892	48707892	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)	FBN1	Pathogenic/Likely pathogenic	15	48796046	48796046	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)	FBN1	Pathogenic/Likely pathogenic	15	48779303	48779303	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.4056del (p.Trp1354fs)	FBN1	Pathogenic/Likely pathogenic	15	48766756	48766756	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5065+1G>C	FBN1	Pathogenic/Likely pathogenic	15	48756095	48756095	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5065+1G>T	FBN1	Pathogenic/Likely pathogenic	15	48756095	48756095	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)	FBN1	Pathogenic/Likely pathogenic	15	48738903	48738903	C	T	criteria provided, multiple submitters, no conflicts	-