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.6508T>C (p.Cys2170Arg)	FBN1	Likely pathogenic	15	48726899	48726899	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5917G>A (p.Asp1973Asn)	FBN1	Likely pathogenic	15	48737573	48737573	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5541C>A (p.Cys1847Ter)	FBN1	Likely pathogenic	15	48744763	48744763	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4925A>G (p.Asp1642Gly)	FBN1	Likely pathogenic	15	48757782	48757782	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2534G>C (p.Cys845Ser)	FBN1	Likely pathogenic	15	48787671	48787671	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2344A>T (p.Arg782Ter)	FBN1	Likely pathogenic	15	48788372	48788372	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1538G>A (p.Cys513Tyr)	FBN1	Likely pathogenic	15	48805796	48805796	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)	FBN1	Likely pathogenic	15	48807673	48807673	C	T	reviewed by expert panel	-
Deletion	NM_000138.5(FBN1):c.7330+3_7330+6del	FBN1	Likely pathogenic	15	48717930	48717933	CACTT	C	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.1589-9T>A	FBN1	Pathogenic	15	48802375	48802375	A	T	criteria provided, single submitter	-