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.7864T>C (p.Cys2622Arg)	FBN1	Pathogenic	15	48707920	48707920	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)	FBN1	Likely pathogenic	15	48712961	48712961	C	T	criteria provided, single submitter	-
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.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.7487G>T (p.Cys2496Phe)	FBN1	Likely pathogenic	15	48714232	48714232	C	A	criteria provided, single submitter	-
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.7432G>T (p.Glu2478Ter)	FBN1	Pathogenic	15	48717587	48717587	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)	FBN1	Pathogenic/Likely pathogenic	15	48717609	48717609	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)	FBN1	Pathogenic	15	48717610	48717610	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)	FBN1	Likely pathogenic	15	48717611	48717611	A	G	criteria provided, single submitter	-