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.4511A>G (p.Asn1504Ser)	FBN1	Pathogenic	15	48760680	48760680	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)	FBN1	Pathogenic/Likely pathogenic	15	48760723	48760723	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4460-1G>C	FBN1	Likely pathogenic	15	48760732	48760732	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)	FBN1	Pathogenic	15	48762831	48762831	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)	FBN1	Pathogenic	15	48762876	48762876	A	G	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr)	FBN1	Pathogenic	15	48762941	48762941	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4337-1G>T	FBN1	Pathogenic	15	48762954	48762954	C	A	criteria provided, single submitter	ClinGen:CA346350
single nucleotide variant	NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)	FBN1	Pathogenic	15	48764792	48764792	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr)	FBN1	Pathogenic	15	48764798	48764798	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)	FBN1	Pathogenic	15	48766763	48766763	C	A	criteria provided, multiple submitters, no conflicts	-