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.1556A>G (p.Tyr519Cys)	FBN1	Pathogenic	15	48805778	48805778	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)	FBN1	Likely pathogenic	15	48805797	48805797	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)	FBN1	Pathogenic	15	48805823	48805823	C	T	criteria provided, single submitter	-
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.1468G>T (p.Asp490Tyr)	FBN1	Pathogenic	15	48807584	48807584	C	A	criteria provided, single submitter	-
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	-
Deletion	NM_000138.5(FBN1):c.1391del (p.Arg464fs)	FBN1	Pathogenic	15	48807661	48807661	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)	FBN1	Likely pathogenic	15	48807662	48807662	G	A	reviewed by expert panel	-
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	-