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.6689G>A (p.Cys2230Tyr)	FBN1	Likely pathogenic	15	48725113	48725113	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392333422
single nucleotide variant	NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)	FBN1	Likely pathogenic	15	48741049	48741049	C	T	criteria provided, single submitter	ClinGen:CA392342167
single nucleotide variant	NM_000138.5(FBN1):c.5422+2T>C	FBN1	Pathogenic/Likely pathogenic	15	48748832	48748832	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392345768
single nucleotide variant	NM_000138.5(FBN1):c.4337-1G>A	FBN1	Pathogenic/Likely pathogenic	15	48762954	48762954	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392354863
single nucleotide variant	NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter)	FBN1	Likely pathogenic	15	48782106	48782106	A	T	criteria provided, single submitter	ClinGen:CA392328996
single nucleotide variant	NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe)	FBN1	Likely pathogenic	15	48782191	48782191	C	A	criteria provided, single submitter	ClinGen:CA392329615
single nucleotide variant	NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)	FBN1	Pathogenic/Likely pathogenic	15	48782270	48782270	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392330212
single nucleotide variant	NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser)	FBN1	Likely pathogenic	15	48797266	48797266	C	G	criteria provided, single submitter	ClinGen:CA392339043
single nucleotide variant	NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser)	FBN1	Likely pathogenic	15	48805823	48805823	C	G	criteria provided, single submitter	ClinGen:CA392342609
single nucleotide variant	NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48892377	48892377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446521