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.6866G>T (p.Cys2289Phe)	FBN1	Likely pathogenic	15	48722873	48722873	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	FBN1	Likely pathogenic	15	48779544	48779544	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)	FBN1	Likely pathogenic	15	48826326	48826326	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)	FBN1	Likely pathogenic	15	48712916	48712916	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7217G>T (p.Cys2406Phe)	FBN1	Likely pathogenic	15	48718049	48718049	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5009A>G (p.Tyr1670Cys)	FBN1	Likely pathogenic	15	48756152	48756152	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)	FBN1	Pathogenic/Likely pathogenic	15	48797314	48797314	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.387C>G (p.Cys129Trp)	FBN1	Likely pathogenic	15	48892391	48892391	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.163G>T (p.Gly55Ter)	FBN1	Pathogenic	15	48936804	48936804	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)	FBN1	Likely pathogenic	15	48726838	48726838	C	A	criteria provided, single submitter	-