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.1510T>C (p.Cys504Arg)	FBN1	Pathogenic/Likely pathogenic	15	48805824	48805824	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48807589	48807589	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)	FBN1	Pathogenic/Likely pathogenic	15	48807631	48807631	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)	FBN1	Pathogenic/Likely pathogenic	15	48812905	48812905	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48888539	48888539	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.164+1del	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7204+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48719763	48719763	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp)	FBN1	Pathogenic/Likely pathogenic	15	48734030	48734030	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48888488	48888488	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)	FBN1	Pathogenic/Likely pathogenic	15	48713791	48713791	C	T	criteria provided, multiple submitters, no conflicts	-