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.5545+1G>A	FBN1	Likely pathogenic	15	48744758	48744758	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)	FBN1	Pathogenic	15	48744801	48744801	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser)	FBN1	Pathogenic	15	48744801	48744801	A	T	criteria provided, single submitter	-
Indel	NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)	FBN1	Pathogenic	15	48744833	48744834	CA	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)	FBN1	Pathogenic	15	48755347	48755347	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)	FBN1	Pathogenic	15	48756100	48756100	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)	FBN1	Pathogenic	15	48756146	48756146	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)	FBN1	Likely pathogenic	15	48757809	48757809	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)	FBN1	Likely pathogenic	15	48758016	48758016	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)	FBN1	Pathogenic/Likely pathogenic	15	48758037	48758037	C	A	criteria provided, multiple submitters, no conflicts	-